##nvar,1,Integer,"Number of overlapping variants"
##var,1,String,"Variant ID"
##cnt,1,Integer,"Alternate allele counts"
##func,.,String,"Genomic annotation"
##transcript,.,String,"Transcript ID"
##genomic,.,String,"Genomic DNA change"
##codon,.,String,"Codon change"
##protein,.,String,"Any nonsynon amino acid change"
##worst,1,String,"Worst annotation"
##class,.,String,"Summary of all annotations"
##allele_ref,1,String,"VCF reference sequence"
##allele_alt,.,String,"VCF alternate sequence(s)"
##seqdb_ref,1,String,"SEQDB reference sequence"
chr22:16287215	allele_ref	C
chr22:16287215	allele_alt	T
chr22:16287215	seqdb_ref	C
chr22:16287215	snp_fw_seq3	CCT/CTT
chr22:16287215	snp_rv_seq3	AGG/AAG
chr22:16287215	func	intronic
chr22:16287215	transcript	NM_001136213
chr22:16287215	genomic	.
chr22:16287215	codon	.
chr22:16287215	protein	.
chr22:16287215	worst	intronic
chr22:16287215	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:16287215	nvar	1
chr22:16287215	var	chr22:16287215:C/T
chr22:16287226	allele_ref	C
chr22:16287226	allele_alt	T
chr22:16287226	seqdb_ref	C
chr22:16287226	snp_fw_seq3	CCA/CTA
chr22:16287226	snp_rv_seq3	TGG/TAG
chr22:16287226	func	intronic
chr22:16287226	transcript	NM_001136213
chr22:16287226	genomic	.
chr22:16287226	codon	.
chr22:16287226	protein	.
chr22:16287226	worst	intronic
chr22:16287226	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:16287226	nvar	1
chr22:16287226	var	chr22:16287226:C/T
chr22:16287649	allele_ref	G
chr22:16287649	allele_alt	A
chr22:16287649	seqdb_ref	G
chr22:16287649	snp_fw_seq3	CGT/CAT
chr22:16287649	snp_rv_seq3	ACG/ATG
chr22:16287649	func	silent
chr22:16287649	transcript	NM_001136213
chr22:16287649	genomic	.
chr22:16287649	codon	.
chr22:16287649	protein	.
chr22:16287649	worst	silent
chr22:16287649	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:16287649	nvar	1
chr22:16287649	var	chr22:16287649:G/A
chr22:16287851	allele_ref	G
chr22:16287851	allele_alt	A
chr22:16287851	seqdb_ref	G
chr22:16287851	snp_fw_seq3	GGA/GAA
chr22:16287851	snp_rv_seq3	TCC/TTC
chr22:16287851	func	missense
chr22:16287851	transcript	NM_001136213
chr22:16287851	genomic	g.35G>A
chr22:16287851	codon	c.35TCC>TTC
chr22:16287851	protein	p.12S>F
chr22:16287851	worst	missense
chr22:16287851	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:16287851	nvar	1
chr22:16287851	var	chr22:16287851:G/A
chr22:17072483	allele_ref	A
chr22:17072483	allele_alt	G
chr22:17072483	seqdb_ref	A
chr22:17072483	snp_fw_seq3	CAA/CGA
chr22:17072483	snp_rv_seq3	TTG/TCG
chr22:17072483	func	missense
chr22:17072483	transcript	NM_014406
chr22:17072483	genomic	g.958A>G
chr22:17072483	codon	c.958TGG>CGG
chr22:17072483	protein	p.320W>R
chr22:17072483	worst	missense
chr22:17072483	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17072483	nvar	1
chr22:17072483	var	chr22:17072483:A/G
chr22:17073066	allele_ref	A
chr22:17073066	allele_alt	G
chr22:17073066	seqdb_ref	A
chr22:17073066	snp_fw_seq3	CAG/CGG
chr22:17073066	snp_rv_seq3	CTG/CCG
chr22:17073066	func	silent
chr22:17073066	transcript	NM_014406
chr22:17073066	genomic	.
chr22:17073066	codon	.
chr22:17073066	protein	.
chr22:17073066	worst	silent
chr22:17073066	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17073066	nvar	1
chr22:17073066	var	chr22:17073066:A/G
chr22:17073198	allele_ref	C
chr22:17073198	allele_alt	T
chr22:17073198	seqdb_ref	C
chr22:17073198	snp_fw_seq3	GCT/GTT
chr22:17073198	snp_rv_seq3	AGC/AAC
chr22:17073198	func	silent
chr22:17073198	transcript	NM_014406
chr22:17073198	genomic	.
chr22:17073198	codon	.
chr22:17073198	protein	.
chr22:17073198	worst	silent
chr22:17073198	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17073198	nvar	1
chr22:17073198	var	chr22:17073198:C/T
chr22:17280778	allele_ref	T
chr22:17280778	allele_alt	C
chr22:17280778	seqdb_ref	T
chr22:17280778	snp_fw_seq3	ATG/ACG
chr22:17280778	snp_rv_seq3	CAT/CGT
chr22:17280778	func	missense
chr22:17280778	transcript	NM_175878
chr22:17280778	genomic	g.472T>C
chr22:17280778	codon	c.472ATG>GTG
chr22:17280778	protein	p.158M>V
chr22:17280778	worst	missense
chr22:17280778	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17280778	nvar	1
chr22:17280778	var	chr22:17280778:T/C
chr22:17280822	allele_ref	G
chr22:17280822	allele_alt	A
chr22:17280822	seqdb_ref	G
chr22:17280822	snp_fw_seq3	CGT/CAT
chr22:17280822	snp_rv_seq3	ACG/ATG
chr22:17280822	func	missense
chr22:17280822	transcript	NM_175878
chr22:17280822	genomic	g.428G>A
chr22:17280822	codon	c.428ACG>ATG
chr22:17280822	protein	p.143T>M
chr22:17280822	worst	missense
chr22:17280822	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17280822	nvar	1
chr22:17280822	var	chr22:17280822:G/A
chr22:17280882	allele_ref	C
chr22:17280882	allele_alt	A
chr22:17280882	seqdb_ref	C
chr22:17280882	snp_fw_seq3	CCA/CAA
chr22:17280882	snp_rv_seq3	TGG/TTG
chr22:17280882	func	missense
chr22:17280882	transcript	NM_175878
chr22:17280882	genomic	g.368C>A
chr22:17280882	codon	c.368TGG>TTG
chr22:17280882	protein	p.123W>L
chr22:17280882	worst	missense
chr22:17280882	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17280882	nvar	1
chr22:17280882	var	chr22:17280882:C/A
chr22:17280889	allele_ref	G
chr22:17280889	allele_alt	A
chr22:17280889	seqdb_ref	G
chr22:17280889	snp_fw_seq3	TGG/TAG
chr22:17280889	snp_rv_seq3	CCA/CTA
chr22:17280889	func	missense
chr22:17280889	transcript	NM_175878
chr22:17280889	genomic	g.361G>A
chr22:17280889	codon	c.361CAC>TAC
chr22:17280889	protein	p.121H>Y
chr22:17280889	worst	missense
chr22:17280889	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17280889	nvar	1
chr22:17280889	var	chr22:17280889:G/A
chr22:17288849	allele_ref	A
chr22:17288849	allele_alt	G
chr22:17288849	seqdb_ref	A
chr22:17288849	snp_fw_seq3	AAG/AGG
chr22:17288849	snp_rv_seq3	CTT/CCT
chr22:17288849	func	missense
chr22:17288849	transcript	NM_175878
chr22:17288849	genomic	g.115A>G
chr22:17288849	codon	c.115TTC>CTC
chr22:17288849	protein	p.39F>L
chr22:17288849	worst	missense
chr22:17288849	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17288849	nvar	1
chr22:17288849	var	chr22:17288849:A/G
chr22:17444582	allele_ref	G
chr22:17444582	allele_alt	A
chr22:17444582	seqdb_ref	G
chr22:17444582	snp_fw_seq3	GGG/GAG
chr22:17444582	snp_rv_seq3	CCC/CTC
chr22:17444582	func	intronic
chr22:17444582	transcript	NM_001037814
chr22:17444582	genomic	.
chr22:17444582	codon	.
chr22:17444582	protein	.
chr22:17444582	worst	intronic
chr22:17444582	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17444582	nvar	1
chr22:17444582	var	chr22:17444582:G/A
chr22:17444748	allele_ref	A
chr22:17444748	allele_alt	G
chr22:17444748	seqdb_ref	A
chr22:17444748	snp_fw_seq3	AAA/AGA
chr22:17444748	snp_rv_seq3	TTT/TCT
chr22:17444748	func	intronic
chr22:17444748	transcript	NM_001037814
chr22:17444748	genomic	.
chr22:17444748	codon	.
chr22:17444748	protein	.
chr22:17444748	worst	intronic
chr22:17444748	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17444748	nvar	1
chr22:17444748	var	chr22:17444748:A/G
chr22:17445710	allele_ref	C
chr22:17445710	allele_alt	T
chr22:17445710	seqdb_ref	C
chr22:17445710	snp_fw_seq3	GCG/GTG
chr22:17445710	snp_rv_seq3	CGC/CAC
chr22:17445710	func	silent
chr22:17445710	transcript	NM_001037814
chr22:17445710	genomic	.
chr22:17445710	codon	.
chr22:17445710	protein	.
chr22:17445710	worst	silent
chr22:17445710	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17445710	nvar	1
chr22:17445710	var	chr22:17445710:C/T
chr22:17446153	allele_ref	G
chr22:17446153	allele_alt	C
chr22:17446153	seqdb_ref	G
chr22:17446153	snp_fw_seq3	GGG/GCG
chr22:17446153	snp_rv_seq3	CCC/CGC
chr22:17446153	func	missense
chr22:17446153	transcript	NM_001037814
chr22:17446153	genomic	g.1294G>C
chr22:17446153	codon	c.1294CCA>GCA
chr22:17446153	protein	p.432P>A
chr22:17446153	worst	missense
chr22:17446153	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17446153	nvar	1
chr22:17446153	var	chr22:17446153:G/C
chr22:17446991	allele_ref	C
chr22:17446991	allele_alt	T
chr22:17446991	seqdb_ref	C
chr22:17446991	snp_fw_seq3	CCT/CTT
chr22:17446991	snp_rv_seq3	AGG/AAG
chr22:17446991	func	silent,splice
chr22:17446991	annot_details	DIST=-1,NMD=0,OFPTV=1,EXIN=6,ISEQ=TGAATG,ESEQ=GGAAGA,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS6+-1G>A
chr22:17446991	transcript	NM_001037814,NM_001037814
chr22:17446991	genomic	.,.
chr22:17446991	codon	.,.
chr22:17446991	protein	.,.
chr22:17446991	worst	splice
chr22:17446991	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17446991	nvar	1
chr22:17446991	var	chr22:17446991:C/T
chr22:17447036	allele_ref	C
chr22:17447036	allele_alt	G
chr22:17447036	seqdb_ref	C
chr22:17447036	snp_fw_seq3	CCT/CGT
chr22:17447036	snp_rv_seq3	AGG/ACG
chr22:17447036	func	missense
chr22:17447036	transcript	NM_001037814
chr22:17447036	genomic	g.1242C>G
chr22:17447036	codon	c.1242GAG>GAC
chr22:17447036	protein	p.414E>D
chr22:17447036	worst	missense
chr22:17447036	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17447036	nvar	1
chr22:17447036	var	chr22:17447036:C/G
chr22:17447237	allele_ref	C
chr22:17447237	allele_alt	G
chr22:17447237	seqdb_ref	C
chr22:17447237	snp_fw_seq3	CCA/CGA
chr22:17447237	snp_rv_seq3	TGG/TCG
chr22:17447237	func	silent
chr22:17447237	transcript	NM_001037814
chr22:17447237	genomic	.
chr22:17447237	codon	.
chr22:17447237	protein	.
chr22:17447237	worst	silent
chr22:17447237	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17447237	nvar	1
chr22:17447237	var	chr22:17447237:C/G
chr22:17450920	allele_ref	T
chr22:17450920	allele_alt	C
chr22:17450920	seqdb_ref	T
chr22:17450920	snp_fw_seq3	CTG/CCG
chr22:17450920	snp_rv_seq3	CAG/CGG
chr22:17450920	func	missense
chr22:17450920	transcript	NM_001037814
chr22:17450920	genomic	g.850T>C
chr22:17450920	codon	c.850AGA>GGA
chr22:17450920	protein	p.284R>G
chr22:17450920	worst	missense
chr22:17450920	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17450920	nvar	1
chr22:17450920	var	chr22:17450920:T/C
chr22:17450929	allele_ref	C
chr22:17450929	allele_alt	T
chr22:17450929	seqdb_ref	C
chr22:17450929	snp_fw_seq3	GCA/GTA
chr22:17450929	snp_rv_seq3	TGC/TAC
chr22:17450929	func	missense
chr22:17450929	transcript	NM_001037814
chr22:17450929	genomic	g.841C>T
chr22:17450929	codon	c.841GCA>ACA
chr22:17450929	protein	p.281A>T
chr22:17450929	worst	missense
chr22:17450929	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17450929	nvar	1
chr22:17450929	var	chr22:17450929:C/T
chr22:17468815	allele_ref	G
chr22:17468815	allele_alt	A
chr22:17468815	seqdb_ref	G
chr22:17468815	snp_fw_seq3	GGG/GAG
chr22:17468815	snp_rv_seq3	CCC/CTC
chr22:17468815	func	intronic
chr22:17468815	transcript	NM_001037814
chr22:17468815	genomic	.
chr22:17468815	codon	.
chr22:17468815	protein	.
chr22:17468815	worst	intronic
chr22:17468815	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17468815	nvar	1
chr22:17468815	var	chr22:17468815:G/A
chr22:17468901	allele_ref	G
chr22:17468901	allele_alt	A
chr22:17468901	seqdb_ref	G
chr22:17468901	snp_fw_seq3	CGG/CAG
chr22:17468901	snp_rv_seq3	CCG/CTG
chr22:17468901	func	missense
chr22:17468901	transcript	NM_001037814
chr22:17468901	genomic	g.635G>A
chr22:17468901	codon	c.635CCG>CTG
chr22:17468901	protein	p.212P>L
chr22:17468901	worst	missense
chr22:17468901	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17468901	nvar	1
chr22:17468901	var	chr22:17468901:G/A
chr22:17469026	allele_ref	G
chr22:17469026	allele_alt	A
chr22:17469026	seqdb_ref	G
chr22:17469026	snp_fw_seq3	CGT/CAT
chr22:17469026	snp_rv_seq3	ACG/ATG
chr22:17469026	func	silent
chr22:17469026	transcript	NM_001037814
chr22:17469026	genomic	.
chr22:17469026	codon	.
chr22:17469026	protein	.
chr22:17469026	worst	silent
chr22:17469026	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17469026	nvar	1
chr22:17469026	var	chr22:17469026:G/A
chr22:17469049	allele_ref	C
chr22:17469049	allele_alt	A
chr22:17469049	seqdb_ref	C
chr22:17469049	snp_fw_seq3	CCC/CAC
chr22:17469049	snp_rv_seq3	GGG/GTG
chr22:17469049	func	nonsense
chr22:17469049	annot_details	NMD=1,OFPTV=1,PEPSIZE=575->163,HGVS=p.G163*
chr22:17469049	transcript	NM_001037814
chr22:17469049	genomic	g.487C>A
chr22:17469049	codon	c.487GGA>TGA
chr22:17469049	protein	p.163G>*
chr22:17469049	worst	nonsense
chr22:17469049	class	nonsense,NON=1,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17469049	nvar	1
chr22:17469049	var	chr22:17469049:C/A
chr22:17472785	allele_ref	G
chr22:17472785	allele_alt	A
chr22:17472785	seqdb_ref	G
chr22:17472785	snp_fw_seq3	AGC/AAC
chr22:17472785	snp_rv_seq3	GCT/GTT
chr22:17472785	func	silent
chr22:17472785	transcript	NM_001037814
chr22:17472785	genomic	.
chr22:17472785	codon	.
chr22:17472785	protein	.
chr22:17472785	worst	silent
chr22:17472785	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17472785	nvar	1
chr22:17472785	var	chr22:17472785:G/A
chr22:17472983	allele_ref	G
chr22:17472983	allele_alt	A
chr22:17472983	seqdb_ref	G
chr22:17472983	snp_fw_seq3	AGC/AAC
chr22:17472983	snp_rv_seq3	GCT/GTT
chr22:17472983	func	silent
chr22:17472983	transcript	NM_001037814
chr22:17472983	genomic	.
chr22:17472983	codon	.
chr22:17472983	protein	.
chr22:17472983	worst	silent
chr22:17472983	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17472983	nvar	1
chr22:17472983	var	chr22:17472983:G/A
chr22:17473071	allele_ref	G
chr22:17473071	allele_alt	C
chr22:17473071	seqdb_ref	G
chr22:17473071	snp_fw_seq3	AGG/ACG
chr22:17473071	snp_rv_seq3	CCT/CGT
chr22:17473071	func	intronic,splice
chr22:17473071	annot_details	DIST=5,NMD=0,OFPTV=1,EXIN=2,ISEQ=GATTCC,ESEQ=GGTCCG,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS2+5C>G
chr22:17473071	transcript	NM_001037814,NM_001037814
chr22:17473071	genomic	.,.
chr22:17473071	codon	.,.
chr22:17473071	protein	.,.
chr22:17473071	worst	splice
chr22:17473071	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17473071	nvar	1
chr22:17473071	var	chr22:17473071:G/C
chr22:17488938	allele_ref	A
chr22:17488938	allele_alt	G
chr22:17488938	seqdb_ref	A
chr22:17488938	snp_fw_seq3	GAC/GGC
chr22:17488938	snp_rv_seq3	GTC/GCC
chr22:17488938	func	missense
chr22:17488938	transcript	NM_001037814
chr22:17488938	genomic	g.67A>G
chr22:17488938	codon	c.67TCT>CCT
chr22:17488938	protein	p.23S>P
chr22:17488938	worst	missense
chr22:17488938	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17488938	nvar	1
chr22:17488938	var	chr22:17488938:A/G
chr22:17488995	allele_ref	G
chr22:17488995	allele_alt	A
chr22:17488995	seqdb_ref	G
chr22:17488995	snp_fw_seq3	GGC/GAC
chr22:17488995	snp_rv_seq3	GCC/GTC
chr22:17488995	func	missense
chr22:17488995	transcript	NM_001037814
chr22:17488995	genomic	g.10G>A
chr22:17488995	codon	c.10CCG>TCG
chr22:17488995	protein	p.4P>S
chr22:17488995	worst	missense
chr22:17488995	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17488995	nvar	1
chr22:17488995	var	chr22:17488995:G/A
chr22:17565932	allele_ref	T
chr22:17565932	allele_alt	C
chr22:17565932	seqdb_ref	T
chr22:17565932	snp_fw_seq3	GTT/GCT
chr22:17565932	snp_rv_seq3	AAC/AGC
chr22:17565932	func	5-UTR
chr22:17565932	transcript	NM_014339
chr22:17565932	genomic	.
chr22:17565932	codon	.
chr22:17565932	protein	.
chr22:17565932	worst	UTR5
chr22:17565932	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:17565932	nvar	1
chr22:17565932	var	chr22:17565932:T/C
chr22:17578008	allele_ref	T
chr22:17578008	allele_alt	C
chr22:17578008	seqdb_ref	T
chr22:17578008	snp_fw_seq3	TTG/TCG
chr22:17578008	snp_rv_seq3	CAA/CGA
chr22:17578008	func	intronic
chr22:17578008	transcript	NM_014339
chr22:17578008	genomic	.
chr22:17578008	codon	.
chr22:17578008	protein	.
chr22:17578008	worst	intronic
chr22:17578008	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17578008	nvar	1
chr22:17578008	var	chr22:17578008:T/C
chr22:17579825	allele_ref	T
chr22:17579825	allele_alt	C
chr22:17579825	seqdb_ref	T
chr22:17579825	snp_fw_seq3	GTA/GCA
chr22:17579825	snp_rv_seq3	TAC/TGC
chr22:17579825	func	intronic
chr22:17579825	transcript	NM_014339
chr22:17579825	genomic	.
chr22:17579825	codon	.
chr22:17579825	protein	.
chr22:17579825	worst	intronic
chr22:17579825	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17579825	nvar	1
chr22:17579825	var	chr22:17579825:T/C
chr22:17581199	allele_ref	G
chr22:17581199	allele_alt	C
chr22:17581199	seqdb_ref	G
chr22:17581199	snp_fw_seq3	AGA/ACA
chr22:17581199	snp_rv_seq3	TCT/TGT
chr22:17581199	func	intronic
chr22:17581199	transcript	NM_014339
chr22:17581199	genomic	.
chr22:17581199	codon	.
chr22:17581199	protein	.
chr22:17581199	worst	intronic
chr22:17581199	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17581199	nvar	1
chr22:17581199	var	chr22:17581199:G/C
chr22:17581224	allele_ref	C
chr22:17581224	allele_alt	T
chr22:17581224	seqdb_ref	C
chr22:17581224	snp_fw_seq3	TCC/TTC
chr22:17581224	snp_rv_seq3	GGA/GAA
chr22:17581224	func	intronic
chr22:17581224	transcript	NM_014339
chr22:17581224	genomic	.
chr22:17581224	codon	.
chr22:17581224	protein	.
chr22:17581224	worst	intronic
chr22:17581224	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17581224	nvar	1
chr22:17581224	var	chr22:17581224:C/T
chr22:17581286	allele_ref	G
chr22:17581286	allele_alt	C
chr22:17581286	seqdb_ref	G
chr22:17581286	snp_fw_seq3	AGG/ACG
chr22:17581286	snp_rv_seq3	CCT/CGT
chr22:17581286	func	missense
chr22:17581286	transcript	NM_014339
chr22:17581286	genomic	g.465G>C
chr22:17581286	codon	c.465CAG>CAC
chr22:17581286	protein	p.155Q>H
chr22:17581286	worst	missense
chr22:17581286	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17581286	nvar	1
chr22:17581286	var	chr22:17581286:G/C
chr22:17582877	allele_ref	G
chr22:17582877	allele_alt	T
chr22:17582877	seqdb_ref	G
chr22:17582877	snp_fw_seq3	GGG/GTG
chr22:17582877	snp_rv_seq3	CCC/CAC
chr22:17582877	func	intronic
chr22:17582877	transcript	NM_014339
chr22:17582877	genomic	.
chr22:17582877	codon	.
chr22:17582877	protein	.
chr22:17582877	worst	intronic
chr22:17582877	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17582877	nvar	1
chr22:17582877	var	chr22:17582877:G/T
chr22:17582986	allele_ref	C
chr22:17582986	allele_alt	T
chr22:17582986	seqdb_ref	C
chr22:17582986	snp_fw_seq3	GCG/GTG
chr22:17582986	snp_rv_seq3	CGC/CAC
chr22:17582986	func	intronic
chr22:17582986	transcript	NM_014339
chr22:17582986	genomic	.
chr22:17582986	codon	.
chr22:17582986	protein	.
chr22:17582986	worst	intronic
chr22:17582986	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17582986	nvar	1
chr22:17582986	var	chr22:17582986:C/T
chr22:17583012	allele_ref	G
chr22:17583012	allele_alt	A
chr22:17583012	seqdb_ref	G
chr22:17583012	snp_fw_seq3	CGT/CAT
chr22:17583012	snp_rv_seq3	ACG/ATG
chr22:17583012	func	intronic
chr22:17583012	transcript	NM_014339
chr22:17583012	genomic	.
chr22:17583012	codon	.
chr22:17583012	protein	.
chr22:17583012	worst	intronic
chr22:17583012	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17583012	nvar	1
chr22:17583012	var	chr22:17583012:G/A
chr22:17585642	allele_ref	C
chr22:17585642	allele_alt	T
chr22:17585642	seqdb_ref	C
chr22:17585642	snp_fw_seq3	TCA/TTA
chr22:17585642	snp_rv_seq3	TGA/TAA
chr22:17585642	func	silent
chr22:17585642	transcript	NM_014339
chr22:17585642	genomic	.
chr22:17585642	codon	.
chr22:17585642	protein	.
chr22:17585642	worst	silent
chr22:17585642	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17585642	nvar	1
chr22:17585642	var	chr22:17585642:C/T
chr22:17586471	allele_ref	C
chr22:17586471	allele_alt	T
chr22:17586471	seqdb_ref	C
chr22:17586471	snp_fw_seq3	TCT/TTT
chr22:17586471	snp_rv_seq3	AGA/AAA
chr22:17586471	func	intronic
chr22:17586471	transcript	NM_014339
chr22:17586471	genomic	.
chr22:17586471	codon	.
chr22:17586471	protein	.
chr22:17586471	worst	intronic
chr22:17586471	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17586471	nvar	1
chr22:17586471	var	chr22:17586471:C/T
chr22:17588588	allele_ref	C
chr22:17588588	allele_alt	A
chr22:17588588	seqdb_ref	C
chr22:17588588	snp_fw_seq3	CCA/CAA
chr22:17588588	snp_rv_seq3	TGG/TTG
chr22:17588588	func	intronic
chr22:17588588	transcript	NM_014339
chr22:17588588	genomic	.
chr22:17588588	codon	.
chr22:17588588	protein	.
chr22:17588588	worst	intronic
chr22:17588588	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17588588	nvar	1
chr22:17588588	var	chr22:17588588:C/A
chr22:17589152	allele_ref	T
chr22:17589152	allele_alt	G
chr22:17589152	seqdb_ref	T
chr22:17589152	snp_fw_seq3	CTG/CGG
chr22:17589152	snp_rv_seq3	CAG/CCG
chr22:17589152	func	intronic
chr22:17589152	transcript	NM_014339
chr22:17589152	genomic	.
chr22:17589152	codon	.
chr22:17589152	protein	.
chr22:17589152	worst	intronic
chr22:17589152	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17589152	nvar	1
chr22:17589152	var	chr22:17589152:T/G
chr22:17589209	allele_ref	C
chr22:17589209	allele_alt	T
chr22:17589209	seqdb_ref	C
chr22:17589209	snp_fw_seq3	GCG/GTG
chr22:17589209	snp_rv_seq3	CGC/CAC
chr22:17589209	func	missense
chr22:17589209	transcript	NM_014339
chr22:17589209	genomic	g.1100C>T
chr22:17589209	codon	c.1100GCG>GTG
chr22:17589209	protein	p.367A>V
chr22:17589209	worst	missense
chr22:17589209	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17589209	nvar	1
chr22:17589209	var	chr22:17589209:C/T
chr22:17589225	allele_ref	C
chr22:17589225	allele_alt	T
chr22:17589225	seqdb_ref	C
chr22:17589225	snp_fw_seq3	CCC/CTC
chr22:17589225	snp_rv_seq3	GGG/GAG
chr22:17589225	func	silent
chr22:17589225	transcript	NM_014339
chr22:17589225	genomic	.
chr22:17589225	codon	.
chr22:17589225	protein	.
chr22:17589225	worst	silent
chr22:17589225	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17589225	nvar	1
chr22:17589225	var	chr22:17589225:C/T
chr22:17589246	allele_ref	G
chr22:17589246	allele_alt	A
chr22:17589246	seqdb_ref	G
chr22:17589246	snp_fw_seq3	AGG/AAG
chr22:17589246	snp_rv_seq3	CCT/CTT
chr22:17589246	func	silent
chr22:17589246	transcript	NM_014339
chr22:17589246	genomic	.
chr22:17589246	codon	.
chr22:17589246	protein	.
chr22:17589246	worst	silent
chr22:17589246	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17589246	nvar	1
chr22:17589246	var	chr22:17589246:G/A
chr22:17589567	allele_ref	C
chr22:17589567	allele_alt	T
chr22:17589567	seqdb_ref	C
chr22:17589567	snp_fw_seq3	TCC/TTC
chr22:17589567	snp_rv_seq3	GGA/GAA
chr22:17589567	func	silent
chr22:17589567	transcript	NM_014339
chr22:17589567	genomic	.
chr22:17589567	codon	.
chr22:17589567	protein	.
chr22:17589567	worst	silent
chr22:17589567	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17589567	nvar	1
chr22:17589567	var	chr22:17589567:C/T
chr22:17589928	allele_ref	G
chr22:17589928	allele_alt	A
chr22:17589928	seqdb_ref	G
chr22:17589928	snp_fw_seq3	TGA/TAA
chr22:17589928	snp_rv_seq3	TCA/TTA
chr22:17589928	func	missense
chr22:17589928	transcript	NM_014339
chr22:17589928	genomic	g.1819G>A
chr22:17589928	codon	c.1819GAG>AAG
chr22:17589928	protein	p.607E>K
chr22:17589928	worst	missense
chr22:17589928	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17589928	nvar	1
chr22:17589928	var	chr22:17589928:G/A
chr22:17590180	allele_ref	G
chr22:17590180	allele_alt	A
chr22:17590180	seqdb_ref	G
chr22:17590180	snp_fw_seq3	CGC/CAC
chr22:17590180	snp_rv_seq3	GCG/GTG
chr22:17590180	func	missense
chr22:17590180	transcript	NM_014339
chr22:17590180	genomic	g.2071G>A
chr22:17590180	codon	c.2071GCA>ACA
chr22:17590180	protein	p.691A>T
chr22:17590180	worst	missense
chr22:17590180	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17590180	nvar	1
chr22:17590180	var	chr22:17590180:G/A
chr22:17590269	allele_ref	C
chr22:17590269	allele_alt	T
chr22:17590269	seqdb_ref	C
chr22:17590269	snp_fw_seq3	CCG/CTG
chr22:17590269	snp_rv_seq3	CGG/CAG
chr22:17590269	func	silent
chr22:17590269	transcript	NM_014339
chr22:17590269	genomic	.
chr22:17590269	codon	.
chr22:17590269	protein	.
chr22:17590269	worst	silent
chr22:17590269	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17590269	nvar	1
chr22:17590269	var	chr22:17590269:C/T
chr22:17590404	allele_ref	G
chr22:17590404	allele_alt	A
chr22:17590404	seqdb_ref	G
chr22:17590404	snp_fw_seq3	AGG/AAG
chr22:17590404	snp_rv_seq3	CCT/CTT
chr22:17590404	func	silent
chr22:17590404	transcript	NM_014339
chr22:17590404	genomic	.
chr22:17590404	codon	.
chr22:17590404	protein	.
chr22:17590404	worst	silent
chr22:17590404	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17590404	nvar	1
chr22:17590404	var	chr22:17590404:G/A
chr22:17590744	allele_ref	T
chr22:17590744	allele_alt	C
chr22:17590744	seqdb_ref	T
chr22:17590744	snp_fw_seq3	CTT/CCT
chr22:17590744	snp_rv_seq3	AAG/AGG
chr22:17590744	func	3-UTR
chr22:17590744	transcript	NM_014339
chr22:17590744	genomic	.
chr22:17590744	codon	.
chr22:17590744	protein	.
chr22:17590744	worst	UTR3
chr22:17590744	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:17590744	nvar	1
chr22:17590744	var	chr22:17590744:T/C
chr22:17600672	allele_ref	G
chr22:17600672	allele_alt	A
chr22:17600672	seqdb_ref	G
chr22:17600672	snp_fw_seq3	CGC/CAC
chr22:17600672	snp_rv_seq3	GCG/GTG
chr22:17600672	func	missense,missense
chr22:17600672	transcript	NM_001163079,NM_031890
chr22:17600672	genomic	g.281G>A,g.1346G>A
chr22:17600672	codon	c.281GCG>GTG,c.1346GCG>GTG
chr22:17600672	protein	p.94A>V,p.449A>V
chr22:17600672	worst	missense
chr22:17600672	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17600672	nvar	1
chr22:17600672	var	chr22:17600672:G/A
chr22:17600977	allele_ref	G
chr22:17600977	allele_alt	A
chr22:17600977	seqdb_ref	G
chr22:17600977	snp_fw_seq3	CGA/CAA
chr22:17600977	snp_rv_seq3	TCG/TTG
chr22:17600977	func	5-UTR,silent
chr22:17600977	transcript	NM_001163079,NM_031890
chr22:17600977	genomic	.,.
chr22:17600977	codon	.,.
chr22:17600977	protein	.,.
chr22:17600977	worst	silent
chr22:17600977	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:17600977	nvar	1
chr22:17600977	var	chr22:17600977:G/A
chr22:17601199	allele_ref	G
chr22:17601199	allele_alt	A
chr22:17601199	seqdb_ref	G
chr22:17601199	snp_fw_seq3	GGG/GAG
chr22:17601199	snp_rv_seq3	CCC/CTC
chr22:17601199	func	intronic,silent
chr22:17601199	transcript	NM_001163079,NM_031890
chr22:17601199	genomic	.,.
chr22:17601199	codon	.,.
chr22:17601199	protein	.,.
chr22:17601199	worst	silent
chr22:17601199	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17601199	nvar	1
chr22:17601199	var	chr22:17601199:G/A
chr22:17601271	allele_ref	G
chr22:17601271	allele_alt	A
chr22:17601271	seqdb_ref	G
chr22:17601271	snp_fw_seq3	GGC/GAC
chr22:17601271	snp_rv_seq3	GCC/GTC
chr22:17601271	func	intronic,silent
chr22:17601271	transcript	NM_001163079,NM_031890
chr22:17601271	genomic	.,.
chr22:17601271	codon	.,.
chr22:17601271	protein	.,.
chr22:17601271	worst	silent
chr22:17601271	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17601271	nvar	1
chr22:17601271	var	chr22:17601271:G/A
chr22:17601466	allele_ref	T
chr22:17601466	allele_alt	C
chr22:17601466	seqdb_ref	T
chr22:17601466	snp_fw_seq3	CTC/CCC
chr22:17601466	snp_rv_seq3	GAG/GGG
chr22:17601466	func	intronic,silent
chr22:17601466	transcript	NM_001163079,NM_031890
chr22:17601466	genomic	.,.
chr22:17601466	codon	.,.
chr22:17601466	protein	.,.
chr22:17601466	worst	silent
chr22:17601466	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17601466	nvar	1
chr22:17601466	var	chr22:17601466:T/C
chr22:17618882	allele_ref	C
chr22:17618882	allele_alt	T
chr22:17618882	seqdb_ref	C
chr22:17618882	snp_fw_seq3	GCT/GTT
chr22:17618882	snp_rv_seq3	AGC/AAC
chr22:17618882	func	3-UTR,3-UTR
chr22:17618882	transcript	NM_017829,NM_033070
chr22:17618882	genomic	.,.
chr22:17618882	codon	.,.
chr22:17618882	protein	.,.
chr22:17618882	worst	UTR3
chr22:17618882	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:17618882	nvar	1
chr22:17618882	var	chr22:17618882:C/T
chr22:17619076	allele_ref	C
chr22:17619076	allele_alt	G
chr22:17619076	seqdb_ref	C
chr22:17619076	snp_fw_seq3	TCC/TGC
chr22:17619076	snp_rv_seq3	GGA/GCA
chr22:17619076	func	missense,missense
chr22:17619076	transcript	NM_017829,NM_033070
chr22:17619076	genomic	g.1017C>G,g.1107C>G
chr22:17619076	codon	c.1017AGG>AGC,c.1107AGG>AGC
chr22:17619076	protein	p.339R>S,p.369R>S
chr22:17619076	worst	missense
chr22:17619076	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17619076	nvar	1
chr22:17619076	var	chr22:17619076:C/G
chr22:17619130	allele_ref	T
chr22:17619130	allele_alt	C
chr22:17619130	seqdb_ref	T
chr22:17619130	snp_fw_seq3	CTG/CCG
chr22:17619130	snp_rv_seq3	CAG/CGG
chr22:17619130	func	silent,silent
chr22:17619130	transcript	NM_017829,NM_033070
chr22:17619130	genomic	.,.
chr22:17619130	codon	.,.
chr22:17619130	protein	.,.
chr22:17619130	worst	silent
chr22:17619130	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17619130	nvar	1
chr22:17619130	var	chr22:17619130:T/C
chr22:17619282	allele_ref	G
chr22:17619282	allele_alt	A
chr22:17619282	seqdb_ref	G
chr22:17619282	snp_fw_seq3	GGA/GAA
chr22:17619282	snp_rv_seq3	TCC/TTC
chr22:17619282	func	intronic,intronic
chr22:17619282	transcript	NM_017829,NM_033070
chr22:17619282	genomic	.,.
chr22:17619282	codon	.,.
chr22:17619282	protein	.,.
chr22:17619282	worst	intronic
chr22:17619282	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17619282	nvar	1
chr22:17619282	var	chr22:17619282:G/A
chr22:17619292	allele_ref	C
chr22:17619292	allele_alt	T
chr22:17619292	seqdb_ref	C
chr22:17619292	snp_fw_seq3	CCC/CTC
chr22:17619292	snp_rv_seq3	GGG/GAG
chr22:17619292	func	intronic,intronic
chr22:17619292	transcript	NM_017829,NM_033070
chr22:17619292	genomic	.,.
chr22:17619292	codon	.,.
chr22:17619292	protein	.,.
chr22:17619292	worst	intronic
chr22:17619292	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17619292	nvar	1
chr22:17619292	var	chr22:17619292:C/T
chr22:17619393	allele_ref	A
chr22:17619393	allele_alt	G
chr22:17619393	seqdb_ref	A
chr22:17619393	snp_fw_seq3	GAG/GGG
chr22:17619393	snp_rv_seq3	CTC/CCC
chr22:17619393	func	intronic,intronic
chr22:17619393	transcript	NM_017829,NM_033070
chr22:17619393	genomic	.,.
chr22:17619393	codon	.,.
chr22:17619393	protein	.,.
chr22:17619393	worst	intronic
chr22:17619393	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17619393	nvar	1
chr22:17619393	var	chr22:17619393:A/G
chr22:17622001	allele_ref	C
chr22:17622001	allele_alt	T
chr22:17622001	seqdb_ref	C
chr22:17622001	snp_fw_seq3	ACG/ATG
chr22:17622001	snp_rv_seq3	CGT/CAT
chr22:17622001	func	missense,missense
chr22:17622001	transcript	NM_017829,NM_033070
chr22:17622001	genomic	g.604C>T,g.694C>T
chr22:17622001	codon	c.604GTC>ATC,c.694GTC>ATC
chr22:17622001	protein	p.202V>I,p.232V>I
chr22:17622001	worst	missense
chr22:17622001	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17622001	nvar	1
chr22:17622001	var	chr22:17622001:C/T
chr22:17630389	allele_ref	G
chr22:17630389	allele_alt	C
chr22:17630389	seqdb_ref	G
chr22:17630389	snp_fw_seq3	GGA/GCA
chr22:17630389	snp_rv_seq3	TCC/TGC
chr22:17630389	func	intronic,intronic
chr22:17630389	transcript	NM_017829,NM_033070
chr22:17630389	genomic	.,.
chr22:17630389	codon	.,.
chr22:17630389	protein	.,.
chr22:17630389	worst	intronic
chr22:17630389	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17630389	nvar	1
chr22:17630389	var	chr22:17630389:G/C
chr22:17630486	allele_ref	C
chr22:17630486	allele_alt	A
chr22:17630486	seqdb_ref	C
chr22:17630486	snp_fw_seq3	TCC/TAC
chr22:17630486	snp_rv_seq3	GGA/GTA
chr22:17630486	func	silent,silent
chr22:17630486	transcript	NM_017829,NM_033070
chr22:17630486	genomic	.,.
chr22:17630486	codon	.,.
chr22:17630486	protein	.,.
chr22:17630486	worst	silent
chr22:17630486	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17630486	nvar	1
chr22:17630486	var	chr22:17630486:C/A
chr22:17640022	allele_ref	G
chr22:17640022	allele_alt	C
chr22:17640022	seqdb_ref	G
chr22:17640022	snp_fw_seq3	CGG/CCG
chr22:17640022	snp_rv_seq3	CCG/CGG
chr22:17640022	func	intronic,silent
chr22:17640022	transcript	NM_017829,NM_033070
chr22:17640022	genomic	.,.
chr22:17640022	codon	.,.
chr22:17640022	protein	.,.
chr22:17640022	worst	silent
chr22:17640022	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17640022	nvar	1
chr22:17640022	var	chr22:17640022:G/C
chr22:17662679	allele_ref	C
chr22:17662679	allele_alt	T
chr22:17662679	seqdb_ref	C
chr22:17662679	snp_fw_seq3	GCG/GTG
chr22:17662679	snp_rv_seq3	CGC/CAC
chr22:17662679	func	intronic,intronic
chr22:17662679	transcript	NM_017424,NM_177405
chr22:17662679	genomic	.,.
chr22:17662679	codon	.,.
chr22:17662679	protein	.,.
chr22:17662679	worst	intronic
chr22:17662679	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17662679	nvar	1
chr22:17662679	var	chr22:17662679:C/T
chr22:17662699	allele_ref	A
chr22:17662699	allele_alt	G
chr22:17662699	seqdb_ref	A
chr22:17662699	snp_fw_seq3	CAG/CGG
chr22:17662699	snp_rv_seq3	CTG/CCG
chr22:17662699	func	intronic,intronic
chr22:17662699	transcript	NM_017424,NM_177405
chr22:17662699	genomic	.,.
chr22:17662699	codon	.,.
chr22:17662699	protein	.,.
chr22:17662699	worst	intronic
chr22:17662699	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17662699	nvar	1
chr22:17662699	var	chr22:17662699:A/G
chr22:17662793	allele_ref	A
chr22:17662793	allele_alt	G
chr22:17662793	seqdb_ref	A
chr22:17662793	snp_fw_seq3	CAT/CGT
chr22:17662793	snp_rv_seq3	ATG/ACG
chr22:17662793	func	silent,silent
chr22:17662793	transcript	NM_017424,NM_177405
chr22:17662793	genomic	.,.
chr22:17662793	codon	.,.
chr22:17662793	protein	.,.
chr22:17662793	worst	silent
chr22:17662793	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17662793	nvar	1
chr22:17662793	var	chr22:17662793:A/G
chr22:17662917	allele_ref	G
chr22:17662917	allele_alt	C
chr22:17662917	seqdb_ref	G
chr22:17662917	snp_fw_seq3	CGC/CCC
chr22:17662917	snp_rv_seq3	GCG/GGG
chr22:17662917	func	intronic,splice,intronic,splice
chr22:17662917	annot_details	DIST=5,NMD=0,OFPTV=0,EXIN=8,ISEQ=GACGCG,ESEQ=GTCGTG,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS8+5C>G,DIST=5,NMD=0,OFPTV=1,EXIN=6,ISEQ=GACGCG,ESEQ=GTCGTG,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS6+5C>G
chr22:17662917	transcript	NM_017424,NM_017424,NM_177405,NM_177405
chr22:17662917	genomic	.,.,.,.
chr22:17662917	codon	.,.,.,.
chr22:17662917	protein	.,.,.,.
chr22:17662917	worst	splice
chr22:17662917	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17662917	nvar	1
chr22:17662917	var	chr22:17662917:G/C
chr22:17669199	allele_ref	G
chr22:17669199	allele_alt	A
chr22:17669199	seqdb_ref	G
chr22:17669199	snp_fw_seq3	CGC/CAC
chr22:17669199	snp_rv_seq3	GCG/GTG
chr22:17669199	func	intronic,intronic
chr22:17669199	transcript	NM_017424,NM_177405
chr22:17669199	genomic	.,.
chr22:17669199	codon	.,.
chr22:17669199	protein	.,.
chr22:17669199	worst	intronic
chr22:17669199	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17669199	nvar	1
chr22:17669199	var	chr22:17669199:G/A
chr22:17669306	allele_ref	T
chr22:17669306	allele_alt	C
chr22:17669306	seqdb_ref	T
chr22:17669306	snp_fw_seq3	ATG/ACG
chr22:17669306	snp_rv_seq3	CAT/CGT
chr22:17669306	func	missense,missense
chr22:17669306	transcript	NM_017424,NM_177405
chr22:17669306	genomic	g.1004T>C,g.281T>C
chr22:17669306	codon	c.1004CAT>CGT,c.281CAT>CGT
chr22:17669306	protein	p.335H>R,p.94H>R
chr22:17669306	worst	missense
chr22:17669306	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17669306	nvar	1
chr22:17669306	var	chr22:17669306:T/C
chr22:17670786	allele_ref	G
chr22:17670786	allele_alt	A
chr22:17670786	seqdb_ref	G
chr22:17670786	snp_fw_seq3	CGC/CAC
chr22:17670786	snp_rv_seq3	GCG/GTG
chr22:17670786	func	intronic,intronic
chr22:17670786	transcript	NM_017424,NM_177405
chr22:17670786	genomic	.,.
chr22:17670786	codon	.,.
chr22:17670786	protein	.,.
chr22:17670786	worst	intronic
chr22:17670786	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17670786	nvar	1
chr22:17670786	var	chr22:17670786:G/A
chr22:17670807	allele_ref	C
chr22:17670807	allele_alt	T
chr22:17670807	seqdb_ref	C
chr22:17670807	snp_fw_seq3	GCC/GTC
chr22:17670807	snp_rv_seq3	GGC/GAC
chr22:17670807	func	intronic,intronic
chr22:17670807	transcript	NM_017424,NM_177405
chr22:17670807	genomic	.,.
chr22:17670807	codon	.,.
chr22:17670807	protein	.,.
chr22:17670807	worst	intronic
chr22:17670807	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17670807	nvar	1
chr22:17670807	var	chr22:17670807:C/T
chr22:17670854	allele_ref	G
chr22:17670854	allele_alt	A
chr22:17670854	seqdb_ref	G
chr22:17670854	snp_fw_seq3	CGT/CAT
chr22:17670854	snp_rv_seq3	ACG/ATG
chr22:17670854	func	missense,missense
chr22:17670854	transcript	NM_017424,NM_177405
chr22:17670854	genomic	g.950G>A,g.227G>A
chr22:17670854	codon	c.950ACG>ATG,c.227ACG>ATG
chr22:17670854	protein	p.317T>M,p.76T>M
chr22:17670854	worst	missense
chr22:17670854	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17670854	nvar	1
chr22:17670854	var	chr22:17670854:G/A
chr22:17670945	allele_ref	A
chr22:17670945	allele_alt	G
chr22:17670945	seqdb_ref	A
chr22:17670945	snp_fw_seq3	CAG/CGG
chr22:17670945	snp_rv_seq3	CTG/CCG
chr22:17670945	func	intronic,intronic
chr22:17670945	transcript	NM_017424,NM_177405
chr22:17670945	genomic	.,.
chr22:17670945	codon	.,.
chr22:17670945	protein	.,.
chr22:17670945	worst	intronic
chr22:17670945	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17670945	nvar	1
chr22:17670945	var	chr22:17670945:A/G
chr22:17690409	allele_ref	G
chr22:17690409	allele_alt	A
chr22:17690409	seqdb_ref	G
chr22:17690409	snp_fw_seq3	TGT/TAT
chr22:17690409	snp_rv_seq3	ACA/ATA
chr22:17690409	func	silent
chr22:17690409	transcript	NM_017424
chr22:17690409	genomic	.
chr22:17690409	codon	.
chr22:17690409	protein	.
chr22:17690409	worst	silent
chr22:17690409	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17690409	nvar	1
chr22:17690409	var	chr22:17690409:G/A
chr22:17690430	allele_ref	C
chr22:17690430	allele_alt	G
chr22:17690430	seqdb_ref	C
chr22:17690430	snp_fw_seq3	CCA/CGA
chr22:17690430	snp_rv_seq3	TGG/TCG
chr22:17690430	func	silent
chr22:17690430	transcript	NM_017424
chr22:17690430	genomic	.
chr22:17690430	codon	.
chr22:17690430	protein	.
chr22:17690430	worst	silent
chr22:17690430	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:17690430	nvar	1
chr22:17690430	var	chr22:17690430:C/G
chr22:18062738	allele_ref	C
chr22:18062738	allele_alt	G
chr22:18062738	seqdb_ref	C
chr22:18062738	snp_fw_seq3	TCG/TGG
chr22:18062738	snp_rv_seq3	CGA/CCA
chr22:18062738	func	intronic
chr22:18062738	transcript	NM_031481
chr22:18062738	genomic	.
chr22:18062738	codon	.
chr22:18062738	protein	.
chr22:18062738	worst	intronic
chr22:18062738	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18062738	nvar	1
chr22:18062738	var	chr22:18062738:C/G
chr22:18070022	allele_ref	A
chr22:18070022	allele_alt	G
chr22:18070022	seqdb_ref	A
chr22:18070022	snp_fw_seq3	CAG/CGG
chr22:18070022	snp_rv_seq3	CTG/CCG
chr22:18070022	func	missense
chr22:18070022	transcript	NM_031481
chr22:18070022	genomic	g.530A>G
chr22:18070022	codon	c.530CAG>CGG
chr22:18070022	protein	p.177Q>R
chr22:18070022	worst	missense
chr22:18070022	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18070022	nvar	1
chr22:18070022	var	chr22:18070022:A/G
chr22:18070872	allele_ref	C
chr22:18070872	allele_alt	T
chr22:18070872	seqdb_ref	C
chr22:18070872	snp_fw_seq3	TCT/TTT
chr22:18070872	snp_rv_seq3	AGA/AAA
chr22:18070872	func	intronic
chr22:18070872	transcript	NM_031481
chr22:18070872	genomic	.
chr22:18070872	codon	.
chr22:18070872	protein	.
chr22:18070872	worst	intronic
chr22:18070872	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18070872	nvar	1
chr22:18070872	var	chr22:18070872:C/T
chr22:18072346	allele_ref	C
chr22:18072346	allele_alt	T
chr22:18072346	seqdb_ref	C
chr22:18072346	snp_fw_seq3	ACT/ATT
chr22:18072346	snp_rv_seq3	AGT/AAT
chr22:18072346	func	intronic
chr22:18072346	transcript	NM_031481
chr22:18072346	genomic	.
chr22:18072346	codon	.
chr22:18072346	protein	.
chr22:18072346	worst	intronic
chr22:18072346	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18072346	nvar	1
chr22:18072346	var	chr22:18072346:C/T
chr22:18073027	allele_ref	C
chr22:18073027	allele_alt	A
chr22:18073027	seqdb_ref	C
chr22:18073027	snp_fw_seq3	GCG/GAG
chr22:18073027	snp_rv_seq3	CGC/CTC
chr22:18073027	func	3-UTR
chr22:18073027	transcript	NM_031481
chr22:18073027	genomic	.
chr22:18073027	codon	.
chr22:18073027	protein	.
chr22:18073027	worst	UTR3
chr22:18073027	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:18073027	nvar	1
chr22:18073027	var	chr22:18073027:C/A
chr22:18073035	allele_ref	G
chr22:18073035	allele_alt	A
chr22:18073035	seqdb_ref	G
chr22:18073035	snp_fw_seq3	CGC/CAC
chr22:18073035	snp_rv_seq3	GCG/GTG
chr22:18073035	func	3-UTR
chr22:18073035	transcript	NM_031481
chr22:18073035	genomic	.
chr22:18073035	codon	.
chr22:18073035	protein	.
chr22:18073035	worst	UTR3
chr22:18073035	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:18073035	nvar	1
chr22:18073035	var	chr22:18073035:G/A
chr22:18073043	allele_ref	T
chr22:18073043	allele_alt	G
chr22:18073043	seqdb_ref	T
chr22:18073043	snp_fw_seq3	CTC/CGC
chr22:18073043	snp_rv_seq3	GAG/GCG
chr22:18073043	func	3-UTR
chr22:18073043	transcript	NM_031481
chr22:18073043	genomic	.
chr22:18073043	codon	.
chr22:18073043	protein	.
chr22:18073043	worst	UTR3
chr22:18073043	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:18073043	nvar	1
chr22:18073043	var	chr22:18073043:T/G
chr22:18075417	allele_ref	G
chr22:18075417	allele_alt	A
chr22:18075417	seqdb_ref	G
chr22:18075417	snp_fw_seq3	CGA/CAA
chr22:18075417	snp_rv_seq3	TCG/TTG
chr22:18075417	func	3-UTR,3-UTR,3-UTR
chr22:18075417	transcript	NM_001039366,NM_001039367,NM_001696
chr22:18075417	genomic	.,.,.
chr22:18075417	codon	.,.,.
chr22:18075417	protein	.,.,.
chr22:18075417	worst	UTR3
chr22:18075417	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=3,npcRNA=0
chr22:18075417	nvar	1
chr22:18075417	var	chr22:18075417:G/A
chr22:18075532	allele_ref	A
chr22:18075532	allele_alt	G
chr22:18075532	seqdb_ref	A
chr22:18075532	snp_fw_seq3	AAT/AGT
chr22:18075532	snp_rv_seq3	ATT/ACT
chr22:18075532	func	intronic,intronic,intronic
chr22:18075532	transcript	NM_001039366,NM_001039367,NM_001696
chr22:18075532	genomic	.,.,.
chr22:18075532	codon	.,.,.
chr22:18075532	protein	.,.,.
chr22:18075532	worst	intronic
chr22:18075532	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18075532	nvar	1
chr22:18075532	var	chr22:18075532:A/G
chr22:18077280	allele_ref	T
chr22:18077280	allele_alt	C
chr22:18077280	seqdb_ref	T
chr22:18077280	snp_fw_seq3	GTA/GCA
chr22:18077280	snp_rv_seq3	TAC/TGC
chr22:18077280	func	intronic,intronic,intronic
chr22:18077280	transcript	NM_001039366,NM_001039367,NM_001696
chr22:18077280	genomic	.,.,.
chr22:18077280	codon	.,.,.
chr22:18077280	protein	.,.,.
chr22:18077280	worst	intronic
chr22:18077280	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18077280	nvar	1
chr22:18077280	var	chr22:18077280:T/C
chr22:18077334	allele_ref	G
chr22:18077334	allele_alt	A
chr22:18077334	seqdb_ref	G
chr22:18077334	snp_fw_seq3	TGG/TAG
chr22:18077334	snp_rv_seq3	CCA/CTA
chr22:18077334	func	silent,silent,silent
chr22:18077334	transcript	NM_001039366,NM_001039367,NM_001696
chr22:18077334	genomic	.,.,.
chr22:18077334	codon	.,.,.
chr22:18077334	protein	.,.,.
chr22:18077334	worst	silent
chr22:18077334	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18077334	nvar	1
chr22:18077334	var	chr22:18077334:G/A
chr22:18080962	allele_ref	G
chr22:18080962	allele_alt	A
chr22:18080962	seqdb_ref	G
chr22:18080962	snp_fw_seq3	TGT/TAT
chr22:18080962	snp_rv_seq3	ACA/ATA
chr22:18080962	func	silent,splice,silent,splice,silent,splice
chr22:18080962	annot_details	DIST=-2,NMD=0,OFPTV=1,EXIN=6,ISEQ=GGAATG,ESEQ=TACAGA,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS6+-2C>T,DIST=-2,NMD=0,OFPTV=1,EXIN=6,ISEQ=GGAATG,ESEQ=TACAGA,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS6+-2C>T,DIST=-2,NMD=0,OFPTV=1,EXIN=7,ISEQ=GGAATG,ESEQ=TACAGA,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS7+-2C>T
chr22:18080962	transcript	NM_001039366,NM_001039366,NM_001039367,NM_001039367,NM_001696,NM_001696
chr22:18080962	genomic	.,.,.,.,.,.
chr22:18080962	codon	.,.,.,.,.,.
chr22:18080962	protein	.,.,.,.,.,.
chr22:18080962	worst	splice
chr22:18080962	class	mixed,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=3,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18080962	nvar	1
chr22:18080962	var	chr22:18080962:G/A
chr22:18081099	allele_ref	A
chr22:18081099	allele_alt	G
chr22:18081099	seqdb_ref	A
chr22:18081099	snp_fw_seq3	AAG/AGG
chr22:18081099	snp_rv_seq3	CTT/CCT
chr22:18081099	func	intronic,intronic,intronic
chr22:18081099	transcript	NM_001039366,NM_001039367,NM_001696
chr22:18081099	genomic	.,.,.
chr22:18081099	codon	.,.,.
chr22:18081099	protein	.,.,.
chr22:18081099	worst	intronic
chr22:18081099	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18081099	nvar	1
chr22:18081099	var	chr22:18081099:A/G
chr22:18083979	allele_ref	A
chr22:18083979	allele_alt	G
chr22:18083979	seqdb_ref	A
chr22:18083979	snp_fw_seq3	TAC/TGC
chr22:18083979	snp_rv_seq3	GTA/GCA
chr22:18083979	func	intronic,intronic,intronic
chr22:18083979	transcript	NM_001039366,NM_001039367,NM_001696
chr22:18083979	genomic	.,.,.
chr22:18083979	codon	.,.,.
chr22:18083979	protein	.,.,.
chr22:18083979	worst	intronic
chr22:18083979	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18083979	nvar	1
chr22:18083979	var	chr22:18083979:A/G
chr22:18095617	allele_ref	C
chr22:18095617	allele_alt	T
chr22:18095617	seqdb_ref	C
chr22:18095617	snp_fw_seq3	TCG/TTG
chr22:18095617	snp_rv_seq3	CGA/CAA
chr22:18095617	func	silent,silent,silent
chr22:18095617	transcript	NM_001039366,NM_001039367,NM_001696
chr22:18095617	genomic	.,.,.
chr22:18095617	codon	.,.,.
chr22:18095617	protein	.,.,.
chr22:18095617	worst	silent
chr22:18095617	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18095617	nvar	1
chr22:18095617	var	chr22:18095617:C/T
chr22:18111431	allele_ref	T
chr22:18111431	allele_alt	C
chr22:18111431	seqdb_ref	T
chr22:18111431	snp_fw_seq3	GTA/GCA
chr22:18111431	snp_rv_seq3	TAC/TGC
chr22:18111431	func	5-UTR,5-UTR,5-UTR
chr22:18111431	transcript	NM_001039366,NM_001039367,NM_001696
chr22:18111431	genomic	.,.,.
chr22:18111431	codon	.,.,.
chr22:18111431	protein	.,.,.
chr22:18111431	worst	UTR5
chr22:18111431	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=3,UTR3=0,npcRNA=0
chr22:18111431	nvar	1
chr22:18111431	var	chr22:18111431:T/C
chr22:18165995	allele_ref	T
chr22:18165995	allele_alt	G
chr22:18165995	seqdb_ref	T
chr22:18165995	snp_fw_seq3	ATA/AGA
chr22:18165995	snp_rv_seq3	TAT/TCT
chr22:18165995	func	missense
chr22:18165995	transcript	NM_015367
chr22:18165995	genomic	g.137T>G
chr22:18165995	codon	c.137ATA>AGA
chr22:18165995	protein	p.46I>R
chr22:18165995	worst	missense
chr22:18165995	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18165995	nvar	1
chr22:18165995	var	chr22:18165995:T/G
chr22:18166021	allele_ref	A
chr22:18166021	allele_alt	G
chr22:18166021	seqdb_ref	A
chr22:18166021	snp_fw_seq3	AAT/AGT
chr22:18166021	snp_rv_seq3	ATT/ACT
chr22:18166021	func	missense
chr22:18166021	transcript	NM_015367
chr22:18166021	genomic	g.163A>G
chr22:18166021	codon	c.163ATT>GTT
chr22:18166021	protein	p.55I>V
chr22:18166021	worst	missense
chr22:18166021	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18166021	nvar	1
chr22:18166021	var	chr22:18166021:A/G
chr22:18178859	allele_ref	C
chr22:18178859	allele_alt	T
chr22:18178859	seqdb_ref	C
chr22:18178859	snp_fw_seq3	ACA/ATA
chr22:18178859	snp_rv_seq3	TGT/TAT
chr22:18178859	func	intronic
chr22:18178859	transcript	NM_015367
chr22:18178859	genomic	.
chr22:18178859	codon	.
chr22:18178859	protein	.
chr22:18178859	worst	intronic
chr22:18178859	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18178859	nvar	1
chr22:18178859	var	chr22:18178859:C/T
chr22:18209496	allele_ref	A
chr22:18209496	allele_alt	G
chr22:18209496	seqdb_ref	A
chr22:18209496	snp_fw_seq3	CAG/CGG
chr22:18209496	snp_rv_seq3	CTG/CCG
chr22:18209496	func	silent
chr22:18209496	transcript	NM_015367
chr22:18209496	genomic	.
chr22:18209496	codon	.
chr22:18209496	protein	.
chr22:18209496	worst	silent
chr22:18209496	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18209496	nvar	1
chr22:18209496	var	chr22:18209496:A/G
chr22:18209613	allele_ref	A
chr22:18209613	allele_alt	G
chr22:18209613	seqdb_ref	A
chr22:18209613	snp_fw_seq3	CAG/CGG
chr22:18209613	snp_rv_seq3	CTG/CCG
chr22:18209613	func	silent
chr22:18209613	transcript	NM_015367
chr22:18209613	genomic	.
chr22:18209613	codon	.
chr22:18209613	protein	.
chr22:18209613	worst	silent
chr22:18209613	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18209613	nvar	1
chr22:18209613	var	chr22:18209613:A/G
chr22:18210242	allele_ref	C
chr22:18210242	allele_alt	T
chr22:18210242	seqdb_ref	C
chr22:18210242	snp_fw_seq3	GCT/GTT
chr22:18210242	snp_rv_seq3	AGC/AAC
chr22:18210242	func	missense
chr22:18210242	transcript	NM_015367
chr22:18210242	genomic	g.1400C>T
chr22:18210242	codon	c.1400GCT>GTT
chr22:18210242	protein	p.467A>V
chr22:18210242	worst	missense
chr22:18210242	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18210242	nvar	1
chr22:18210242	var	chr22:18210242:C/T
chr22:18218344	allele_ref	G
chr22:18218344	allele_alt	A
chr22:18218344	seqdb_ref	G
chr22:18218344	snp_fw_seq3	CGT/CAT
chr22:18218344	snp_rv_seq3	ACG/ATG
chr22:18218344	func	3-UTR,3-UTR,3-UTR,3-UTR,3-UTR,3-UTR,3-UTR
chr22:18218344	transcript	NM_001196,NM_001244567,NM_001244569,NM_001244570,NM_001244572,NM_197966,NM_197967
chr22:18218344	genomic	.,.,.,.,.,.,.
chr22:18218344	codon	.,.,.,.,.,.,.
chr22:18218344	protein	.,.,.,.,.,.,.
chr22:18218344	worst	UTR3
chr22:18218344	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=7,npcRNA=0
chr22:18218344	nvar	1
chr22:18218344	var	chr22:18218344:G/A
chr22:18220831	allele_ref	A
chr22:18220831	allele_alt	G
chr22:18220831	seqdb_ref	A
chr22:18220831	snp_fw_seq3	AAT/AGT
chr22:18220831	snp_rv_seq3	ATT/ACT
chr22:18220831	func	silent,silent,silent,silent,silent,silent,silent
chr22:18220831	transcript	NM_001196,NM_001244567,NM_001244569,NM_001244570,NM_001244572,NM_197966,NM_197967
chr22:18220831	genomic	.,.,.,.,.,.,.
chr22:18220831	codon	.,.,.,.,.,.,.
chr22:18220831	protein	.,.,.,.,.,.,.
chr22:18220831	worst	silent
chr22:18220831	class	silent,NON=0,SL=0,MIS=0,SYN=7,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18220831	nvar	1
chr22:18220831	var	chr22:18220831:A/G
chr22:18222263	allele_ref	A
chr22:18222263	allele_alt	G
chr22:18222263	seqdb_ref	A
chr22:18222263	snp_fw_seq3	CAG/CGG
chr22:18222263	snp_rv_seq3	CTG/CCG
chr22:18222263	func	intronic,intronic,intronic,intronic,intronic,intronic,intronic
chr22:18222263	transcript	NM_001196,NM_001244567,NM_001244569,NM_001244570,NM_001244572,NM_197966,NM_197967
chr22:18222263	genomic	.,.,.,.,.,.,.
chr22:18222263	codon	.,.,.,.,.,.,.
chr22:18222263	protein	.,.,.,.,.,.,.
chr22:18222263	worst	intronic
chr22:18222263	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=7,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18222263	nvar	1
chr22:18222263	var	chr22:18222263:A/G
chr22:18226521	allele_ref	C
chr22:18226521	allele_alt	T
chr22:18226521	seqdb_ref	C
chr22:18226521	snp_fw_seq3	GCG/GTG
chr22:18226521	snp_rv_seq3	CGC/CAC
chr22:18226521	func	intronic,intronic,intronic,intronic,intronic,intronic,intronic
chr22:18226521	transcript	NM_001196,NM_001244567,NM_001244569,NM_001244570,NM_001244572,NM_197966,NM_197967
chr22:18226521	genomic	.,.,.,.,.,.,.
chr22:18226521	codon	.,.,.,.,.,.,.
chr22:18226521	protein	.,.,.,.,.,.,.
chr22:18226521	worst	intronic
chr22:18226521	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=7,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18226521	nvar	1
chr22:18226521	var	chr22:18226521:C/T
chr22:18226528	allele_ref	G
chr22:18226528	allele_alt	A
chr22:18226528	seqdb_ref	G
chr22:18226528	snp_fw_seq3	AGA/AAA
chr22:18226528	snp_rv_seq3	TCT/TTT
chr22:18226528	func	intronic,intronic,intronic,intronic,intronic,intronic,intronic
chr22:18226528	transcript	NM_001196,NM_001244567,NM_001244569,NM_001244570,NM_001244572,NM_197966,NM_197967
chr22:18226528	genomic	.,.,.,.,.,.,.
chr22:18226528	codon	.,.,.,.,.,.,.
chr22:18226528	protein	.,.,.,.,.,.,.
chr22:18226528	worst	intronic
chr22:18226528	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=7,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18226528	nvar	1
chr22:18226528	var	chr22:18226528:G/A
chr22:18226612	allele_ref	A
chr22:18226612	allele_alt	G
chr22:18226612	seqdb_ref	A
chr22:18226612	snp_fw_seq3	CAT/CGT
chr22:18226612	snp_rv_seq3	ATG/ACG
chr22:18226612	func	silent,silent,intronic,intronic,intronic,silent,5-UTR
chr22:18226612	transcript	NM_001196,NM_001244567,NM_001244569,NM_001244570,NM_001244572,NM_197966,NM_197967
chr22:18226612	genomic	.,.,.,.,.,.,.
chr22:18226612	codon	.,.,.,.,.,.,.
chr22:18226612	protein	.,.,.,.,.,.,.
chr22:18226612	worst	silent
chr22:18226612	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:18226612	nvar	1
chr22:18226612	var	chr22:18226612:A/G
chr22:18226689	allele_ref	T
chr22:18226689	allele_alt	C
chr22:18226689	seqdb_ref	T
chr22:18226689	snp_fw_seq3	CTG/CCG
chr22:18226689	snp_rv_seq3	CAG/CGG
chr22:18226689	func	missense,missense,intronic,intronic,intronic,missense,5-UTR
chr22:18226689	transcript	NM_001196,NM_001244567,NM_001244569,NM_001244570,NM_001244572,NM_197966,NM_197967
chr22:18226689	genomic	g.103T>C,g.103T>C,.,.,.,g.241T>C,.
chr22:18226689	codon	c.103AGA>GGA,c.103AGA>GGA,.,.,.,c.241AGA>GGA,.
chr22:18226689	protein	p.35R>G,p.35R>G,.,.,.,p.81R>G,.
chr22:18226689	worst	missense
chr22:18226689	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:18226689	nvar	1
chr22:18226689	var	chr22:18226689:T/C
chr22:18226764	allele_ref	T
chr22:18226764	allele_alt	C
chr22:18226764	seqdb_ref	T
chr22:18226764	snp_fw_seq3	CTG/CCG
chr22:18226764	snp_rv_seq3	CAG/CGG
chr22:18226764	func	missense,missense,intronic,intronic,intronic,missense,5-UTR
chr22:18226764	transcript	NM_001196,NM_001244567,NM_001244569,NM_001244570,NM_001244572,NM_197966,NM_197967
chr22:18226764	genomic	g.28T>C,g.28T>C,.,.,.,g.166T>C,.
chr22:18226764	codon	c.28AGC>GGC,c.28AGC>GGC,.,.,.,c.166AGC>GGC,.
chr22:18226764	protein	p.10S>G,p.10S>G,.,.,.,p.56S>G,.
chr22:18226764	worst	missense
chr22:18226764	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:18226764	nvar	1
chr22:18226764	var	chr22:18226764:T/C
chr22:18226792	allele_ref	G
chr22:18226792	allele_alt	C
chr22:18226792	seqdb_ref	G
chr22:18226792	snp_fw_seq3	GGG/GCG
chr22:18226792	snp_rv_seq3	CCC/CGC
chr22:18226792	func	intronic,intronic,intronic,intronic,intronic,intronic,intronic
chr22:18226792	transcript	NM_001196,NM_001244567,NM_001244569,NM_001244570,NM_001244572,NM_197966,NM_197967
chr22:18226792	genomic	.,.,.,.,.,.,.
chr22:18226792	codon	.,.,.,.,.,.,.
chr22:18226792	protein	.,.,.,.,.,.,.
chr22:18226792	worst	intronic
chr22:18226792	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=7,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18226792	nvar	1
chr22:18226792	var	chr22:18226792:G/C
chr22:18273463	allele_ref	G
chr22:18273463	allele_alt	A
chr22:18273463	seqdb_ref	G
chr22:18273463	snp_fw_seq3	CGG/CAG
chr22:18273463	snp_rv_seq3	CCG/CTG
chr22:18273463	func	3-UTR
chr22:18273463	transcript	NM_015241
chr22:18273463	genomic	.
chr22:18273463	codon	.
chr22:18273463	protein	.
chr22:18273463	worst	UTR3
chr22:18273463	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:18273463	nvar	1
chr22:18273463	var	chr22:18273463:G/A
chr22:18273976	allele_ref	C
chr22:18273976	allele_alt	A
chr22:18273976	seqdb_ref	C
chr22:18273976	snp_fw_seq3	TCA/TAA
chr22:18273976	snp_rv_seq3	TGA/TTA
chr22:18273976	func	silent
chr22:18273976	transcript	NM_015241
chr22:18273976	genomic	.
chr22:18273976	codon	.
chr22:18273976	protein	.
chr22:18273976	worst	silent
chr22:18273976	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18273976	nvar	1
chr22:18273976	var	chr22:18273976:C/A
chr22:18274009	allele_ref	C
chr22:18274009	allele_alt	G
chr22:18274009	seqdb_ref	C
chr22:18274009	snp_fw_seq3	TCT/TGT
chr22:18274009	snp_rv_seq3	AGA/ACA
chr22:18274009	func	missense
chr22:18274009	transcript	NM_015241
chr22:18274009	genomic	g.5709C>G
chr22:18274009	codon	c.5709GAG>GAC
chr22:18274009	protein	p.1903E>D
chr22:18274009	worst	missense
chr22:18274009	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18274009	nvar	1
chr22:18274009	var	chr22:18274009:C/G
chr22:18274071	allele_ref	C
chr22:18274071	allele_alt	T
chr22:18274071	seqdb_ref	C
chr22:18274071	snp_fw_seq3	GCC/GTC
chr22:18274071	snp_rv_seq3	GGC/GAC
chr22:18274071	func	intronic,splice
chr22:18274071	annot_details	DIST=4,NMD=0,OFPTV=1,EXIN=30,ISEQ=GACGGC,ESEQ=GGTACG,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS30+4G>A
chr22:18274071	transcript	NM_015241,NM_015241
chr22:18274071	genomic	.,.
chr22:18274071	codon	.,.
chr22:18274071	protein	.,.
chr22:18274071	worst	splice
chr22:18274071	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18274071	nvar	1
chr22:18274071	var	chr22:18274071:C/T
chr22:18274092	allele_ref	G
chr22:18274092	allele_alt	C
chr22:18274092	seqdb_ref	G
chr22:18274092	snp_fw_seq3	GGT/GCT
chr22:18274092	snp_rv_seq3	ACC/AGC
chr22:18274092	func	intronic
chr22:18274092	transcript	NM_015241
chr22:18274092	genomic	.
chr22:18274092	codon	.
chr22:18274092	protein	.
chr22:18274092	worst	intronic
chr22:18274092	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18274092	nvar	1
chr22:18274092	var	chr22:18274092:G/C
chr22:18293502	allele_ref	C
chr22:18293502	allele_alt	T
chr22:18293502	seqdb_ref	C
chr22:18293502	snp_fw_seq3	GCT/GTT
chr22:18293502	snp_rv_seq3	AGC/AAC
chr22:18293502	func	silent
chr22:18293502	transcript	NM_015241
chr22:18293502	genomic	.
chr22:18293502	codon	.
chr22:18293502	protein	.
chr22:18293502	worst	silent
chr22:18293502	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18293502	nvar	1
chr22:18293502	var	chr22:18293502:C/T
chr22:18300240	allele_ref	T
chr22:18300240	allele_alt	C
chr22:18300240	seqdb_ref	T
chr22:18300240	snp_fw_seq3	CTA/CCA
chr22:18300240	snp_rv_seq3	TAG/TGG
chr22:18300240	func	silent
chr22:18300240	transcript	NM_015241
chr22:18300240	genomic	.
chr22:18300240	codon	.
chr22:18300240	protein	.
chr22:18300240	worst	silent
chr22:18300240	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18300240	nvar	1
chr22:18300240	var	chr22:18300240:T/C
chr22:18300594	allele_ref	G
chr22:18300594	allele_alt	A
chr22:18300594	seqdb_ref	G
chr22:18300594	snp_fw_seq3	CGT/CAT
chr22:18300594	snp_rv_seq3	ACG/ATG
chr22:18300594	func	silent
chr22:18300594	transcript	NM_015241
chr22:18300594	genomic	.
chr22:18300594	codon	.
chr22:18300594	protein	.
chr22:18300594	worst	silent
chr22:18300594	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18300594	nvar	1
chr22:18300594	var	chr22:18300594:G/A
chr22:18300637	allele_ref	A
chr22:18300637	allele_alt	T
chr22:18300637	seqdb_ref	A
chr22:18300637	snp_fw_seq3	CAT/CTT
chr22:18300637	snp_rv_seq3	ATG/AAG
chr22:18300637	func	missense
chr22:18300637	transcript	NM_015241
chr22:18300637	genomic	g.4790A>T
chr22:18300637	codon	c.4790ATG>AAG
chr22:18300637	protein	p.1597M>K
chr22:18300637	worst	missense
chr22:18300637	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18300637	nvar	1
chr22:18300637	var	chr22:18300637:A/T
chr22:18300879	allele_ref	G
chr22:18300879	allele_alt	A
chr22:18300879	seqdb_ref	G
chr22:18300879	snp_fw_seq3	CGC/CAC
chr22:18300879	snp_rv_seq3	GCG/GTG
chr22:18300879	func	silent
chr22:18300879	transcript	NM_015241
chr22:18300879	genomic	.
chr22:18300879	codon	.
chr22:18300879	protein	.
chr22:18300879	worst	silent
chr22:18300879	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18300879	nvar	1
chr22:18300879	var	chr22:18300879:G/A
chr22:18301137	allele_ref	C
chr22:18301137	allele_alt	T
chr22:18301137	seqdb_ref	C
chr22:18301137	snp_fw_seq3	GCA/GTA
chr22:18301137	snp_rv_seq3	TGC/TAC
chr22:18301137	func	silent
chr22:18301137	transcript	NM_015241
chr22:18301137	genomic	.
chr22:18301137	codon	.
chr22:18301137	protein	.
chr22:18301137	worst	silent
chr22:18301137	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18301137	nvar	1
chr22:18301137	var	chr22:18301137:C/T
chr22:18301190	allele_ref	G
chr22:18301190	allele_alt	A
chr22:18301190	seqdb_ref	G
chr22:18301190	snp_fw_seq3	CGT/CAT
chr22:18301190	snp_rv_seq3	ACG/ATG
chr22:18301190	func	missense
chr22:18301190	transcript	NM_015241
chr22:18301190	genomic	g.4237G>A
chr22:18301190	codon	c.4237CGC>TGC
chr22:18301190	protein	p.1413R>C
chr22:18301190	worst	missense
chr22:18301190	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18301190	nvar	1
chr22:18301190	var	chr22:18301190:G/A
chr22:18301238	allele_ref	C
chr22:18301238	allele_alt	T
chr22:18301238	seqdb_ref	C
chr22:18301238	snp_fw_seq3	TCG/TTG
chr22:18301238	snp_rv_seq3	CGA/CAA
chr22:18301238	func	missense
chr22:18301238	transcript	NM_015241
chr22:18301238	genomic	g.4189C>T
chr22:18301238	codon	c.4189GAG>AAG
chr22:18301238	protein	p.1397E>K
chr22:18301238	worst	missense
chr22:18301238	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18301238	nvar	1
chr22:18301238	var	chr22:18301238:C/T
chr22:18301693	allele_ref	T
chr22:18301693	allele_alt	C
chr22:18301693	seqdb_ref	T
chr22:18301693	snp_fw_seq3	CTG/CCG
chr22:18301693	snp_rv_seq3	CAG/CGG
chr22:18301693	func	missense
chr22:18301693	transcript	NM_015241
chr22:18301693	genomic	g.3734T>C
chr22:18301693	codon	c.3734CAG>CGG
chr22:18301693	protein	p.1245Q>R
chr22:18301693	worst	missense
chr22:18301693	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18301693	nvar	1
chr22:18301693	var	chr22:18301693:T/C
chr22:18304753	allele_ref	T
chr22:18304753	allele_alt	C
chr22:18304753	seqdb_ref	T
chr22:18304753	snp_fw_seq3	GTA/GCA
chr22:18304753	snp_rv_seq3	TAC/TGC
chr22:18304753	func	intronic
chr22:18304753	transcript	NM_015241
chr22:18304753	genomic	.
chr22:18304753	codon	.
chr22:18304753	protein	.
chr22:18304753	worst	intronic
chr22:18304753	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18304753	nvar	1
chr22:18304753	var	chr22:18304753:T/C
chr22:18304784	allele_ref	A
chr22:18304784	allele_alt	C
chr22:18304784	seqdb_ref	A
chr22:18304784	snp_fw_seq3	AAG/ACG
chr22:18304784	snp_rv_seq3	CTT/CGT
chr22:18304784	func	intronic
chr22:18304784	transcript	NM_015241
chr22:18304784	genomic	.
chr22:18304784	codon	.
chr22:18304784	protein	.
chr22:18304784	worst	intronic
chr22:18304784	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18304784	nvar	1
chr22:18304784	var	chr22:18304784:A/C
chr22:18304821	allele_ref	G
chr22:18304821	allele_alt	A
chr22:18304821	seqdb_ref	G
chr22:18304821	snp_fw_seq3	CGG/CAG
chr22:18304821	snp_rv_seq3	CCG/CTG
chr22:18304821	func	silent
chr22:18304821	transcript	NM_015241
chr22:18304821	genomic	.
chr22:18304821	codon	.
chr22:18304821	protein	.
chr22:18304821	worst	silent
chr22:18304821	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18304821	nvar	1
chr22:18304821	var	chr22:18304821:G/A
chr22:18304891	allele_ref	C
chr22:18304891	allele_alt	T
chr22:18304891	seqdb_ref	C
chr22:18304891	snp_fw_seq3	ACG/ATG
chr22:18304891	snp_rv_seq3	CGT/CAT
chr22:18304891	func	missense
chr22:18304891	transcript	NM_015241
chr22:18304891	genomic	g.3353C>T
chr22:18304891	codon	c.3353CGT>CAT
chr22:18304891	protein	p.1118R>H
chr22:18304891	worst	missense
chr22:18304891	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18304891	nvar	1
chr22:18304891	var	chr22:18304891:C/T
chr22:18304978	allele_ref	G
chr22:18304978	allele_alt	A
chr22:18304978	seqdb_ref	G
chr22:18304978	snp_fw_seq3	TGA/TAA
chr22:18304978	snp_rv_seq3	TCA/TTA
chr22:18304978	func	intronic
chr22:18304978	transcript	NM_015241
chr22:18304978	genomic	.
chr22:18304978	codon	.
chr22:18304978	protein	.
chr22:18304978	worst	intronic
chr22:18304978	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18304978	nvar	1
chr22:18304978	var	chr22:18304978:G/A
chr22:18305684	allele_ref	C
chr22:18305684	allele_alt	A
chr22:18305684	seqdb_ref	C
chr22:18305684	snp_fw_seq3	ACC/AAC
chr22:18305684	snp_rv_seq3	GGT/GTT
chr22:18305684	func	intronic
chr22:18305684	transcript	NM_015241
chr22:18305684	genomic	.
chr22:18305684	codon	.
chr22:18305684	protein	.
chr22:18305684	worst	intronic
chr22:18305684	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18305684	nvar	1
chr22:18305684	var	chr22:18305684:C/A
chr22:18310363	allele_ref	C
chr22:18310363	allele_alt	T
chr22:18310363	seqdb_ref	C
chr22:18310363	snp_fw_seq3	GCG/GTG
chr22:18310363	snp_rv_seq3	CGC/CAC
chr22:18310363	func	intronic
chr22:18310363	transcript	NM_015241
chr22:18310363	genomic	.
chr22:18310363	codon	.
chr22:18310363	protein	.
chr22:18310363	worst	intronic
chr22:18310363	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18310363	nvar	1
chr22:18310363	var	chr22:18310363:C/T
chr22:18310367	allele_ref	T
chr22:18310367	allele_alt	C
chr22:18310367	seqdb_ref	T
chr22:18310367	snp_fw_seq3	GTG/GCG
chr22:18310367	snp_rv_seq3	CAC/CGC
chr22:18310367	func	intronic
chr22:18310367	transcript	NM_015241
chr22:18310367	genomic	.
chr22:18310367	codon	.
chr22:18310367	protein	.
chr22:18310367	worst	intronic
chr22:18310367	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18310367	nvar	1
chr22:18310367	var	chr22:18310367:T/C
chr22:18310439	allele_ref	G
chr22:18310439	allele_alt	A
chr22:18310439	seqdb_ref	G
chr22:18310439	snp_fw_seq3	CGC/CAC
chr22:18310439	snp_rv_seq3	GCG/GTG
chr22:18310439	func	missense
chr22:18310439	transcript	NM_015241
chr22:18310439	genomic	g.3164G>A
chr22:18310439	codon	c.3164GCG>GTG
chr22:18310439	protein	p.1055A>V
chr22:18310439	worst	missense
chr22:18310439	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18310439	nvar	1
chr22:18310439	var	chr22:18310439:G/A
chr22:18314815	allele_ref	G
chr22:18314815	allele_alt	A
chr22:18314815	seqdb_ref	G
chr22:18314815	snp_fw_seq3	GGC/GAC
chr22:18314815	snp_rv_seq3	GCC/GTC
chr22:18314815	func	missense
chr22:18314815	transcript	NM_015241
chr22:18314815	genomic	g.2860G>A
chr22:18314815	codon	c.2860CCC>TCC
chr22:18314815	protein	p.954P>S
chr22:18314815	worst	missense
chr22:18314815	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18314815	nvar	1
chr22:18314815	var	chr22:18314815:G/A
chr22:18324564	allele_ref	C
chr22:18324564	allele_alt	T
chr22:18324564	seqdb_ref	C
chr22:18324564	snp_fw_seq3	GCG/GTG
chr22:18324564	snp_rv_seq3	CGC/CAC
chr22:18324564	func	intronic,intronic
chr22:18324564	transcript	NM_001122731,NM_015241
chr22:18324564	genomic	.,.
chr22:18324564	codon	.,.
chr22:18324564	protein	.,.
chr22:18324564	worst	intronic
chr22:18324564	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18324564	nvar	1
chr22:18324564	var	chr22:18324564:C/T
chr22:18324580	allele_ref	G
chr22:18324580	allele_alt	A
chr22:18324580	seqdb_ref	G
chr22:18324580	snp_fw_seq3	CGT/CAT
chr22:18324580	snp_rv_seq3	ACG/ATG
chr22:18324580	func	intronic,intronic
chr22:18324580	transcript	NM_001122731,NM_015241
chr22:18324580	genomic	.,.
chr22:18324580	codon	.,.
chr22:18324580	protein	.,.
chr22:18324580	worst	intronic
chr22:18324580	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18324580	nvar	1
chr22:18324580	var	chr22:18324580:G/A
chr22:18324626	allele_ref	G
chr22:18324626	allele_alt	A
chr22:18324626	seqdb_ref	G
chr22:18324626	snp_fw_seq3	CGC/CAC
chr22:18324626	snp_rv_seq3	GCG/GTG
chr22:18324626	func	silent,silent
chr22:18324626	transcript	NM_001122731,NM_015241
chr22:18324626	genomic	.,.
chr22:18324626	codon	.,.
chr22:18324626	protein	.,.
chr22:18324626	worst	silent
chr22:18324626	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18324626	nvar	1
chr22:18324626	var	chr22:18324626:G/A
chr22:18347687	allele_ref	G
chr22:18347687	allele_alt	C
chr22:18347687	seqdb_ref	G
chr22:18347687	snp_fw_seq3	TGG/TCG
chr22:18347687	snp_rv_seq3	CCA/CGA
chr22:18347687	func	silent,silent,silent
chr22:18347687	transcript	NM_001122731,NM_001136004,NM_015241
chr22:18347687	genomic	.,.,.
chr22:18347687	codon	.,.,.
chr22:18347687	protein	.,.,.
chr22:18347687	worst	silent
chr22:18347687	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18347687	nvar	1
chr22:18347687	var	chr22:18347687:G/C
chr22:18348823	allele_ref	G
chr22:18348823	allele_alt	A
chr22:18348823	seqdb_ref	G
chr22:18348823	snp_fw_seq3	CGG/CAG
chr22:18348823	snp_rv_seq3	CCG/CTG
chr22:18348823	func	intronic,intronic,intronic
chr22:18348823	transcript	NM_001122731,NM_001136004,NM_015241
chr22:18348823	genomic	.,.,.
chr22:18348823	codon	.,.,.
chr22:18348823	protein	.,.,.
chr22:18348823	worst	intronic
chr22:18348823	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18348823	nvar	1
chr22:18348823	var	chr22:18348823:G/A
chr22:18354637	allele_ref	C
chr22:18354637	allele_alt	T
chr22:18354637	seqdb_ref	C
chr22:18354637	snp_fw_seq3	GCA/GTA
chr22:18354637	snp_rv_seq3	TGC/TAC
chr22:18354637	func	silent,silent,silent
chr22:18354637	transcript	NM_001122731,NM_001136004,NM_015241
chr22:18354637	genomic	.,.,.
chr22:18354637	codon	.,.,.
chr22:18354637	protein	.,.,.
chr22:18354637	worst	silent
chr22:18354637	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18354637	nvar	1
chr22:18354637	var	chr22:18354637:C/T
chr22:18354766	allele_ref	C
chr22:18354766	allele_alt	T
chr22:18354766	seqdb_ref	C
chr22:18354766	snp_fw_seq3	GCG/GTG
chr22:18354766	snp_rv_seq3	CGC/CAC
chr22:18354766	func	silent,silent,silent
chr22:18354766	transcript	NM_001122731,NM_001136004,NM_015241
chr22:18354766	genomic	.,.,.
chr22:18354766	codon	.,.,.
chr22:18354766	protein	.,.,.
chr22:18354766	worst	silent
chr22:18354766	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18354766	nvar	1
chr22:18354766	var	chr22:18354766:C/T
chr22:18354783	allele_ref	T
chr22:18354783	allele_alt	G
chr22:18354783	seqdb_ref	T
chr22:18354783	snp_fw_seq3	ATG/AGG
chr22:18354783	snp_rv_seq3	CAT/CCT
chr22:18354783	func	missense,missense,missense
chr22:18354783	transcript	NM_001122731,NM_001136004,NM_015241
chr22:18354783	genomic	g.2248T>G,g.2620T>G,g.2248T>G
chr22:18354783	codon	c.2248ATG>CTG,c.2620ATG>CTG,c.2248ATG>CTG
chr22:18354783	protein	p.750M>L,p.874M>L,p.750M>L
chr22:18354783	worst	missense
chr22:18354783	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18354783	nvar	1
chr22:18354783	var	chr22:18354783:T/G
chr22:18358301	allele_ref	C
chr22:18358301	allele_alt	T
chr22:18358301	seqdb_ref	C
chr22:18358301	snp_fw_seq3	ACG/ATG
chr22:18358301	snp_rv_seq3	CGT/CAT
chr22:18358301	func	intronic,missense,intronic
chr22:18358301	transcript	NM_001122731,NM_001136004,NM_015241
chr22:18358301	genomic	.,g.2417C>T,.
chr22:18358301	codon	.,c.2417CGT>CAT,.
chr22:18358301	protein	.,p.806R>H,.
chr22:18358301	worst	missense
chr22:18358301	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18358301	nvar	1
chr22:18358301	var	chr22:18358301:C/T
chr22:18362142	allele_ref	G
chr22:18362142	allele_alt	A
chr22:18362142	seqdb_ref	G
chr22:18362142	snp_fw_seq3	GGT/GAT
chr22:18362142	snp_rv_seq3	ACC/ATC
chr22:18362142	func	intronic,silent,intronic
chr22:18362142	transcript	NM_001122731,NM_001136004,NM_015241
chr22:18362142	genomic	.,.,.
chr22:18362142	codon	.,.,.
chr22:18362142	protein	.,.,.
chr22:18362142	worst	silent
chr22:18362142	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18362142	nvar	1
chr22:18362142	var	chr22:18362142:G/A
chr22:18368614	allele_ref	C
chr22:18368614	allele_alt	T
chr22:18368614	seqdb_ref	C
chr22:18368614	snp_fw_seq3	TCG/TTG
chr22:18368614	snp_rv_seq3	CGA/CAA
chr22:18368614	func	intronic,intronic,intronic
chr22:18368614	transcript	NM_001122731,NM_001136004,NM_015241
chr22:18368614	genomic	.,.,.
chr22:18368614	codon	.,.,.
chr22:18368614	protein	.,.,.
chr22:18368614	worst	intronic
chr22:18368614	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18368614	nvar	1
chr22:18368614	var	chr22:18368614:C/T
chr22:18368615	allele_ref	G
chr22:18368615	allele_alt	A
chr22:18368615	seqdb_ref	G
chr22:18368615	snp_fw_seq3	CGG/CAG
chr22:18368615	snp_rv_seq3	CCG/CTG
chr22:18368615	func	intronic,intronic,intronic
chr22:18368615	transcript	NM_001122731,NM_001136004,NM_015241
chr22:18368615	genomic	.,.,.
chr22:18368615	codon	.,.,.
chr22:18368615	protein	.,.,.
chr22:18368615	worst	intronic
chr22:18368615	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18368615	nvar	1
chr22:18368615	var	chr22:18368615:G/A
chr22:18368793	allele_ref	C
chr22:18368793	allele_alt	T
chr22:18368793	seqdb_ref	C
chr22:18368793	snp_fw_seq3	CCT/CTT
chr22:18368793	snp_rv_seq3	AGG/AAG
chr22:18368793	func	missense,missense,missense
chr22:18368793	transcript	NM_001122731,NM_001136004,NM_015241
chr22:18368793	genomic	g.2092C>T,g.2092C>T,g.2092C>T
chr22:18368793	codon	c.2092GGA>AGA,c.2092GGA>AGA,c.2092GGA>AGA
chr22:18368793	protein	p.698G>R,p.698G>R,p.698G>R
chr22:18368793	worst	missense
chr22:18368793	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18368793	nvar	1
chr22:18368793	var	chr22:18368793:C/T
chr22:18369916	allele_ref	A
chr22:18369916	allele_alt	G
chr22:18369916	seqdb_ref	A
chr22:18369916	snp_fw_seq3	AAT/AGT
chr22:18369916	snp_rv_seq3	ATT/ACT
chr22:18369916	func	intronic,intronic,intronic
chr22:18369916	transcript	NM_001122731,NM_001136004,NM_015241
chr22:18369916	genomic	.,.,.
chr22:18369916	codon	.,.,.
chr22:18369916	protein	.,.,.
chr22:18369916	worst	intronic
chr22:18369916	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18369916	nvar	1
chr22:18369916	var	chr22:18369916:A/G
chr22:18370066	allele_ref	C
chr22:18370066	allele_alt	A,T
chr22:18370066	seqdb_ref	C
chr22:18370066	func	intronic,intronic,intronic
chr22:18370066	transcript	NM_001122731,NM_001136004,NM_015241
chr22:18370066	genomic	.,.,.
chr22:18370066	codon	.,.,.
chr22:18370066	protein	.,.,.
chr22:18370066	worst	intronic
chr22:18370066	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18370066	nvar	1
chr22:18370066	var	chr22:18370066:C/A,T
chr22:18370182	allele_ref	G
chr22:18370182	allele_alt	A
chr22:18370182	seqdb_ref	G
chr22:18370182	snp_fw_seq3	CGG/CAG
chr22:18370182	snp_rv_seq3	CCG/CTG
chr22:18370182	func	silent,silent,silent
chr22:18370182	transcript	NM_001122731,NM_001136004,NM_015241
chr22:18370182	genomic	.,.,.
chr22:18370182	codon	.,.,.
chr22:18370182	protein	.,.,.
chr22:18370182	worst	silent
chr22:18370182	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18370182	nvar	1
chr22:18370182	var	chr22:18370182:G/A
chr22:18372020	allele_ref	A
chr22:18372020	allele_alt	G
chr22:18372020	seqdb_ref	A
chr22:18372020	snp_fw_seq3	CAT/CGT
chr22:18372020	snp_rv_seq3	ATG/ACG
chr22:18372020	func	intronic,intronic,intronic
chr22:18372020	transcript	NM_001122731,NM_001136004,NM_015241
chr22:18372020	genomic	.,.,.
chr22:18372020	codon	.,.,.
chr22:18372020	protein	.,.,.
chr22:18372020	worst	intronic
chr22:18372020	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18372020	nvar	1
chr22:18372020	var	chr22:18372020:A/G
chr22:18376646	allele_ref	C
chr22:18376646	allele_alt	T
chr22:18376646	seqdb_ref	C
chr22:18376646	snp_fw_seq3	TCG/TTG
chr22:18376646	snp_rv_seq3	CGA/CAA
chr22:18376646	func	missense,missense,missense
chr22:18376646	transcript	NM_001122731,NM_001136004,NM_015241
chr22:18376646	genomic	g.1474C>T,g.1474C>T,g.1474C>T
chr22:18376646	codon	c.1474GAA>AAA,c.1474GAA>AAA,c.1474GAA>AAA
chr22:18376646	protein	p.492E>K,p.492E>K,p.492E>K
chr22:18376646	worst	missense
chr22:18376646	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18376646	nvar	1
chr22:18376646	var	chr22:18376646:C/T
chr22:18378002	allele_ref	T
chr22:18378002	allele_alt	C
chr22:18378002	seqdb_ref	T
chr22:18378002	snp_fw_seq3	TTG/TCG
chr22:18378002	snp_rv_seq3	CAA/CGA
chr22:18378002	func	intronic,intronic,intronic
chr22:18378002	transcript	NM_001122731,NM_001136004,NM_015241
chr22:18378002	genomic	.,.,.
chr22:18378002	codon	.,.,.
chr22:18378002	protein	.,.,.
chr22:18378002	worst	intronic
chr22:18378002	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18378002	nvar	1
chr22:18378002	var	chr22:18378002:T/C
chr22:18378204	allele_ref	A
chr22:18378204	allele_alt	G
chr22:18378204	seqdb_ref	A
chr22:18378204	snp_fw_seq3	AAT/AGT
chr22:18378204	snp_rv_seq3	ATT/ACT
chr22:18378204	func	intronic,intronic,intronic
chr22:18378204	transcript	NM_001122731,NM_001136004,NM_015241
chr22:18378204	genomic	.,.,.
chr22:18378204	codon	.,.,.
chr22:18378204	protein	.,.,.
chr22:18378204	worst	intronic
chr22:18378204	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18378204	nvar	1
chr22:18378204	var	chr22:18378204:A/G
chr22:18379160	allele_ref	T
chr22:18379160	allele_alt	A
chr22:18379160	seqdb_ref	T
chr22:18379160	snp_fw_seq3	ATA/AAA
chr22:18379160	snp_rv_seq3	TAT/TTT
chr22:18379160	func	intronic,intronic,intronic
chr22:18379160	transcript	NM_001122731,NM_001136004,NM_015241
chr22:18379160	genomic	.,.,.
chr22:18379160	codon	.,.,.
chr22:18379160	protein	.,.,.
chr22:18379160	worst	intronic
chr22:18379160	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18379160	nvar	1
chr22:18379160	var	chr22:18379160:T/A
chr22:18379796	allele_ref	A
chr22:18379796	allele_alt	G
chr22:18379796	seqdb_ref	A
chr22:18379796	snp_fw_seq3	CAG/CGG
chr22:18379796	snp_rv_seq3	CTG/CCG
chr22:18379796	func	intronic,intronic,intronic
chr22:18379796	transcript	NM_001122731,NM_001136004,NM_015241
chr22:18379796	genomic	.,.,.
chr22:18379796	codon	.,.,.
chr22:18379796	protein	.,.,.
chr22:18379796	worst	intronic
chr22:18379796	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18379796	nvar	1
chr22:18379796	var	chr22:18379796:A/G
chr22:18389616	allele_ref	G
chr22:18389616	allele_alt	T
chr22:18389616	seqdb_ref	G
chr22:18389616	snp_fw_seq3	GGG/GTG
chr22:18389616	snp_rv_seq3	CCC/CAC
chr22:18389616	func	5-UTR,5-UTR,5-UTR
chr22:18389616	transcript	NM_001122731,NM_001136004,NM_015241
chr22:18389616	genomic	.,.,.
chr22:18389616	codon	.,.,.
chr22:18389616	protein	.,.,.
chr22:18389616	worst	UTR5
chr22:18389616	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=3,UTR3=0,npcRNA=0
chr22:18389616	nvar	1
chr22:18389616	var	chr22:18389616:G/T
chr22:18562595	allele_ref	T
chr22:18562595	allele_alt	G
chr22:18562595	seqdb_ref	T
chr22:18562595	snp_fw_seq3	ATG/AGG
chr22:18562595	snp_rv_seq3	CAT/CCT
chr22:18562595	func	intronic,intronic,intronic
chr22:18562595	transcript	NM_001127649,NM_001199319,NM_017929
chr22:18562595	genomic	.,.,.
chr22:18562595	codon	.,.,.
chr22:18562595	protein	.,.,.
chr22:18562595	worst	intronic
chr22:18562595	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18562595	nvar	1
chr22:18562595	var	chr22:18562595:T/G
chr22:18570725	allele_ref	C
chr22:18570725	allele_alt	T
chr22:18570725	seqdb_ref	C
chr22:18570725	snp_fw_seq3	CCT/CTT
chr22:18570725	snp_rv_seq3	AGG/AAG
chr22:18570725	func	intronic,intronic,intronic
chr22:18570725	transcript	NM_001127649,NM_001199319,NM_017929
chr22:18570725	genomic	.,.,.
chr22:18570725	codon	.,.,.
chr22:18570725	protein	.,.,.
chr22:18570725	worst	intronic
chr22:18570725	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18570725	nvar	1
chr22:18570725	var	chr22:18570725:C/T
chr22:18606946	allele_ref	C
chr22:18606946	allele_alt	T
chr22:18606946	seqdb_ref	C
chr22:18606946	snp_fw_seq3	CCG/CTG
chr22:18606946	snp_rv_seq3	CGG/CAG
chr22:18606946	func	missense,missense
chr22:18606946	transcript	NM_001193414,NM_018943
chr22:18606946	genomic	g.52C>T,g.250C>T
chr22:18606946	codon	c.52CGC>TGC,c.250CGC>TGC
chr22:18606946	protein	p.18R>C,p.84R>C
chr22:18606946	worst	missense
chr22:18606946	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18606946	nvar	1
chr22:18606946	var	chr22:18606946:C/T
chr22:18609087	allele_ref	T
chr22:18609087	allele_alt	C
chr22:18609087	seqdb_ref	T
chr22:18609087	snp_fw_seq3	CTT/CCT
chr22:18609087	snp_rv_seq3	AAG/AGG
chr22:18609087	func	intronic,intronic
chr22:18609087	transcript	NM_001193414,NM_018943
chr22:18609087	genomic	.,.
chr22:18609087	codon	.,.
chr22:18609087	protein	.,.
chr22:18609087	worst	intronic
chr22:18609087	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18609087	nvar	1
chr22:18609087	var	chr22:18609087:T/C
chr22:18609561	allele_ref	C
chr22:18609561	allele_alt	T
chr22:18609561	seqdb_ref	C
chr22:18609561	snp_fw_seq3	ACG/ATG
chr22:18609561	snp_rv_seq3	CGT/CAT
chr22:18609561	func	silent,silent
chr22:18609561	transcript	NM_001193414,NM_018943
chr22:18609561	genomic	.,.
chr22:18609561	codon	.,.
chr22:18609561	protein	.,.
chr22:18609561	worst	silent
chr22:18609561	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18609561	nvar	1
chr22:18609561	var	chr22:18609561:C/T
chr22:18609642	allele_ref	C
chr22:18609642	allele_alt	T
chr22:18609642	seqdb_ref	C
chr22:18609642	snp_fw_seq3	ACA/ATA
chr22:18609642	snp_rv_seq3	TGT/TAT
chr22:18609642	func	silent,silent
chr22:18609642	transcript	NM_001193414,NM_018943
chr22:18609642	genomic	.,.
chr22:18609642	codon	.,.
chr22:18609642	protein	.,.
chr22:18609642	worst	silent
chr22:18609642	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18609642	nvar	1
chr22:18609642	var	chr22:18609642:C/T
chr22:18613603	allele_ref	C
chr22:18613603	allele_alt	T
chr22:18613603	seqdb_ref	C
chr22:18613603	snp_fw_seq3	TCC/TTC
chr22:18613603	snp_rv_seq3	GGA/GAA
chr22:18613603	func	intronic,intronic
chr22:18613603	transcript	NM_001193414,NM_018943
chr22:18613603	genomic	.,.
chr22:18613603	codon	.,.
chr22:18613603	protein	.,.
chr22:18613603	worst	intronic
chr22:18613603	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18613603	nvar	1
chr22:18613603	var	chr22:18613603:C/T
chr22:18640397	allele_ref	C
chr22:18640397	allele_alt	G
chr22:18640397	seqdb_ref	C
chr22:18640397	snp_fw_seq3	GCA/GGA
chr22:18640397	snp_rv_seq3	TGC/TCC
chr22:18640397	func	5-UTR
chr22:18640397	transcript	NM_017414
chr22:18640397	genomic	.
chr22:18640397	codon	.
chr22:18640397	protein	.
chr22:18640397	worst	UTR5
chr22:18640397	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:18640397	nvar	1
chr22:18640397	var	chr22:18640397:C/G
chr22:18644702	allele_ref	T
chr22:18644702	allele_alt	C
chr22:18644702	seqdb_ref	T
chr22:18644702	snp_fw_seq3	CTG/CCG
chr22:18644702	snp_rv_seq3	CAG/CGG
chr22:18644702	func	silent,splice
chr22:18644702	annot_details	DIST=0,NMD=0,OFPTV=1,EXIN=4,ISEQ=GTAAGA,ESEQ=TGCCCT,SPLICE_TYPE=donor,ALT=C,HGVS=c.IVS4+0T>C
chr22:18644702	transcript	NM_017414,NM_017414
chr22:18644702	genomic	.,.
chr22:18644702	codon	.,.
chr22:18644702	protein	.,.
chr22:18644702	worst	splice
chr22:18644702	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18644702	nvar	1
chr22:18644702	var	chr22:18644702:T/C
chr22:18650682	allele_ref	C
chr22:18650682	allele_alt	T
chr22:18650682	seqdb_ref	C
chr22:18650682	snp_fw_seq3	ACG/ATG
chr22:18650682	snp_rv_seq3	CGT/CAT
chr22:18650682	func	missense
chr22:18650682	transcript	NM_017414
chr22:18650682	genomic	g.506C>T
chr22:18650682	codon	c.506ACG>ATG
chr22:18650682	protein	p.169T>M
chr22:18650682	worst	missense
chr22:18650682	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18650682	nvar	1
chr22:18650682	var	chr22:18650682:C/T
chr22:18894058	allele_ref	C
chr22:18894058	allele_alt	G
chr22:18894058	seqdb_ref	C
chr22:18894058	snp_fw_seq3	CCG/CGG
chr22:18894058	snp_rv_seq3	CGG/CCG
chr22:18894058	func	intronic
chr22:18894058	transcript	NM_005675
chr22:18894058	genomic	.
chr22:18894058	codon	.
chr22:18894058	protein	.
chr22:18894058	worst	intronic
chr22:18894058	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18894058	nvar	1
chr22:18894058	var	chr22:18894058:C/G
chr22:18897763	allele_ref	C
chr22:18897763	allele_alt	T
chr22:18897763	seqdb_ref	C
chr22:18897763	snp_fw_seq3	GCG/GTG
chr22:18897763	snp_rv_seq3	CGC/CAC
chr22:18897763	func	missense
chr22:18897763	transcript	NM_005675
chr22:18897763	genomic	g.350C>T
chr22:18897763	codon	c.350GCG>GTG
chr22:18897763	protein	p.117A>V
chr22:18897763	worst	missense
chr22:18897763	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18897763	nvar	1
chr22:18897763	var	chr22:18897763:C/T
chr22:18897796	allele_ref	C
chr22:18897796	allele_alt	T
chr22:18897796	seqdb_ref	C
chr22:18897796	snp_fw_seq3	ACG/ATG
chr22:18897796	snp_rv_seq3	CGT/CAT
chr22:18897796	func	intronic
chr22:18897796	transcript	NM_005675
chr22:18897796	genomic	.
chr22:18897796	codon	.
chr22:18897796	protein	.
chr22:18897796	worst	intronic
chr22:18897796	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18897796	nvar	1
chr22:18897796	var	chr22:18897796:C/T
chr22:18898436	allele_ref	G
chr22:18898436	allele_alt	A
chr22:18898436	seqdb_ref	G
chr22:18898436	snp_fw_seq3	CGA/CAA
chr22:18898436	snp_rv_seq3	TCG/TTG
chr22:18898436	func	silent
chr22:18898436	transcript	NM_005675
chr22:18898436	genomic	.
chr22:18898436	codon	.
chr22:18898436	protein	.
chr22:18898436	worst	silent
chr22:18898436	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18898436	nvar	1
chr22:18898436	var	chr22:18898436:G/A
chr22:18898523	allele_ref	C
chr22:18898523	allele_alt	T
chr22:18898523	seqdb_ref	C
chr22:18898523	snp_fw_seq3	ACG/ATG
chr22:18898523	snp_rv_seq3	CGT/CAT
chr22:18898523	func	silent
chr22:18898523	transcript	NM_005675
chr22:18898523	genomic	.
chr22:18898523	codon	.
chr22:18898523	protein	.
chr22:18898523	worst	silent
chr22:18898523	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18898523	nvar	1
chr22:18898523	var	chr22:18898523:C/T
chr22:18898582	allele_ref	T
chr22:18898582	allele_alt	G
chr22:18898582	seqdb_ref	T
chr22:18898582	snp_fw_seq3	CTG/CGG
chr22:18898582	snp_rv_seq3	CAG/CCG
chr22:18898582	func	intronic
chr22:18898582	transcript	NM_005675
chr22:18898582	genomic	.
chr22:18898582	codon	.
chr22:18898582	protein	.
chr22:18898582	worst	intronic
chr22:18898582	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18898582	nvar	1
chr22:18898582	var	chr22:18898582:T/G
chr22:18899016	allele_ref	G
chr22:18899016	allele_alt	A
chr22:18899016	seqdb_ref	G
chr22:18899016	snp_fw_seq3	GGT/GAT
chr22:18899016	snp_rv_seq3	ACC/ATC
chr22:18899016	func	intronic
chr22:18899016	transcript	NM_005675
chr22:18899016	genomic	.
chr22:18899016	codon	.
chr22:18899016	protein	.
chr22:18899016	worst	intronic
chr22:18899016	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18899016	nvar	1
chr22:18899016	var	chr22:18899016:G/A
chr22:18900669	allele_ref	A
chr22:18900669	allele_alt	G
chr22:18900669	seqdb_ref	A
chr22:18900669	snp_fw_seq3	TAA/TGA
chr22:18900669	snp_rv_seq3	TTA/TCA
chr22:18900669	func	3-UTR,3-UTR
chr22:18900669	transcript	NM_001195226,NM_016335
chr22:18900669	genomic	.,.
chr22:18900669	codon	.,.
chr22:18900669	protein	.,.
chr22:18900669	worst	UTR3
chr22:18900669	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:18900669	nvar	1
chr22:18900669	var	chr22:18900669:A/G
chr22:18900750	allele_ref	G
chr22:18900750	allele_alt	A
chr22:18900750	seqdb_ref	G
chr22:18900750	snp_fw_seq3	AGC/AAC
chr22:18900750	snp_rv_seq3	GCT/GTT
chr22:18900750	func	silent,silent
chr22:18900750	transcript	NM_001195226,NM_016335
chr22:18900750	genomic	.,.
chr22:18900750	codon	.,.
chr22:18900750	protein	.,.
chr22:18900750	worst	silent
chr22:18900750	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18900750	nvar	1
chr22:18900750	var	chr22:18900750:G/A
chr22:18900868	allele_ref	G
chr22:18900868	allele_alt	C
chr22:18900868	seqdb_ref	G
chr22:18900868	snp_fw_seq3	CGG/CCG
chr22:18900868	snp_rv_seq3	CCG/CGG
chr22:18900868	func	silent,silent
chr22:18900868	transcript	NM_001195226,NM_016335
chr22:18900868	genomic	.,.
chr22:18900868	codon	.,.
chr22:18900868	protein	.,.
chr22:18900868	worst	silent
chr22:18900868	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18900868	nvar	1
chr22:18900868	var	chr22:18900868:G/C
chr22:18901004	allele_ref	C
chr22:18901004	allele_alt	T
chr22:18901004	seqdb_ref	C
chr22:18901004	snp_fw_seq3	CCG/CTG
chr22:18901004	snp_rv_seq3	CGG/CAG
chr22:18901004	func	missense,missense
chr22:18901004	transcript	NM_001195226,NM_016335
chr22:18901004	genomic	g.1238C>T,g.1562C>T
chr22:18901004	codon	c.1238CGG>CAG,c.1562CGG>CAG
chr22:18901004	protein	p.413R>Q,p.521R>Q
chr22:18901004	worst	missense
chr22:18901004	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18901004	nvar	1
chr22:18901004	var	chr22:18901004:C/T
chr22:18904414	allele_ref	A
chr22:18904414	allele_alt	G
chr22:18904414	seqdb_ref	A
chr22:18904414	snp_fw_seq3	CAA/CGA
chr22:18904414	snp_rv_seq3	TTG/TCG
chr22:18904414	func	silent,silent
chr22:18904414	transcript	NM_001195226,NM_016335
chr22:18904414	genomic	.,.
chr22:18904414	codon	.,.
chr22:18904414	protein	.,.
chr22:18904414	worst	silent
chr22:18904414	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18904414	nvar	1
chr22:18904414	var	chr22:18904414:A/G
chr22:18904489	allele_ref	G
chr22:18904489	allele_alt	A
chr22:18904489	seqdb_ref	G
chr22:18904489	snp_fw_seq3	CGT/CAT
chr22:18904489	snp_rv_seq3	ACG/ATG
chr22:18904489	func	silent,silent
chr22:18904489	transcript	NM_001195226,NM_016335
chr22:18904489	genomic	.,.
chr22:18904489	codon	.,.
chr22:18904489	protein	.,.
chr22:18904489	worst	silent
chr22:18904489	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18904489	nvar	1
chr22:18904489	var	chr22:18904489:G/A
chr22:18905842	allele_ref	C
chr22:18905842	allele_alt	T
chr22:18905842	seqdb_ref	C
chr22:18905842	snp_fw_seq3	GCG/GTG
chr22:18905842	snp_rv_seq3	CGC/CAC
chr22:18905842	func	missense,missense
chr22:18905842	transcript	NM_001195226,NM_016335
chr22:18905842	genomic	g.1090C>T,g.1414C>T
chr22:18905842	codon	c.1090GCC>ACC,c.1414GCC>ACC
chr22:18905842	protein	p.364A>T,p.472A>T
chr22:18905842	worst	missense
chr22:18905842	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18905842	nvar	1
chr22:18905842	var	chr22:18905842:C/T
chr22:18905964	allele_ref	C
chr22:18905964	allele_alt	T
chr22:18905964	seqdb_ref	C
chr22:18905964	snp_fw_seq3	GCG/GTG
chr22:18905964	snp_rv_seq3	CGC/CAC
chr22:18905964	func	missense,missense
chr22:18905964	transcript	NM_001195226,NM_016335
chr22:18905964	genomic	g.968C>T,g.1292C>T
chr22:18905964	codon	c.968CGC>CAC,c.1292CGC>CAC
chr22:18905964	protein	p.323R>H,p.431R>H
chr22:18905964	worst	missense
chr22:18905964	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18905964	nvar	1
chr22:18905964	var	chr22:18905964:C/T
chr22:18905978	allele_ref	G
chr22:18905978	allele_alt	A
chr22:18905978	seqdb_ref	G
chr22:18905978	snp_fw_seq3	CGT/CAT
chr22:18905978	snp_rv_seq3	ACG/ATG
chr22:18905978	func	silent,silent
chr22:18905978	transcript	NM_001195226,NM_016335
chr22:18905978	genomic	.,.
chr22:18905978	codon	.,.
chr22:18905978	protein	.,.
chr22:18905978	worst	silent
chr22:18905978	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18905978	nvar	1
chr22:18905978	var	chr22:18905978:G/A
chr22:18907088	allele_ref	C
chr22:18907088	allele_alt	T
chr22:18907088	seqdb_ref	C
chr22:18907088	snp_fw_seq3	CCG/CTG
chr22:18907088	snp_rv_seq3	CGG/CAG
chr22:18907088	func	missense,missense
chr22:18907088	transcript	NM_001195226,NM_016335
chr22:18907088	genomic	g.803C>T,g.1127C>T
chr22:18907088	codon	c.803CGG>CAG,c.1127CGG>CAG
chr22:18907088	protein	p.268R>Q,p.376R>Q
chr22:18907088	worst	missense
chr22:18907088	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18907088	nvar	1
chr22:18907088	var	chr22:18907088:C/T
chr22:18907124	allele_ref	G
chr22:18907124	allele_alt	A
chr22:18907124	seqdb_ref	G
chr22:18907124	snp_fw_seq3	GGG/GAG
chr22:18907124	snp_rv_seq3	CCC/CTC
chr22:18907124	func	intronic,intronic
chr22:18907124	transcript	NM_001195226,NM_016335
chr22:18907124	genomic	.,.
chr22:18907124	codon	.,.
chr22:18907124	protein	.,.
chr22:18907124	worst	intronic
chr22:18907124	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18907124	nvar	1
chr22:18907124	var	chr22:18907124:G/A
chr22:18907160	allele_ref	G
chr22:18907160	allele_alt	A
chr22:18907160	seqdb_ref	G
chr22:18907160	snp_fw_seq3	AGG/AAG
chr22:18907160	snp_rv_seq3	CCT/CTT
chr22:18907160	func	intronic,intronic
chr22:18907160	transcript	NM_001195226,NM_016335
chr22:18907160	genomic	.,.
chr22:18907160	codon	.,.
chr22:18907160	protein	.,.
chr22:18907160	worst	intronic
chr22:18907160	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18907160	nvar	1
chr22:18907160	var	chr22:18907160:G/A
chr22:18907192	allele_ref	A
chr22:18907192	allele_alt	C
chr22:18907192	seqdb_ref	A
chr22:18907192	snp_fw_seq3	TAC/TCC
chr22:18907192	snp_rv_seq3	GTA/GGA
chr22:18907192	func	intronic,intronic
chr22:18907192	transcript	NM_001195226,NM_016335
chr22:18907192	genomic	.,.
chr22:18907192	codon	.,.
chr22:18907192	protein	.,.
chr22:18907192	worst	intronic
chr22:18907192	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18907192	nvar	1
chr22:18907192	var	chr22:18907192:A/C
chr22:18908875	allele_ref	A
chr22:18908875	allele_alt	G
chr22:18908875	seqdb_ref	A
chr22:18908875	snp_fw_seq3	AAG/AGG
chr22:18908875	snp_rv_seq3	CTT/CCT
chr22:18908875	func	silent,silent
chr22:18908875	transcript	NM_001195226,NM_016335
chr22:18908875	genomic	.,.
chr22:18908875	codon	.,.
chr22:18908875	protein	.,.
chr22:18908875	worst	silent
chr22:18908875	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18908875	nvar	1
chr22:18908875	var	chr22:18908875:A/G
chr22:18910301	allele_ref	A
chr22:18910301	allele_alt	G
chr22:18910301	seqdb_ref	A
chr22:18910301	snp_fw_seq3	CAG/CGG
chr22:18910301	snp_rv_seq3	CTG/CCG
chr22:18910301	func	intronic,intronic
chr22:18910301	transcript	NM_001195226,NM_016335
chr22:18910301	genomic	.,.
chr22:18910301	codon	.,.
chr22:18910301	protein	.,.
chr22:18910301	worst	intronic
chr22:18910301	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18910301	nvar	1
chr22:18910301	var	chr22:18910301:A/G
chr22:18910307	allele_ref	G
chr22:18910307	allele_alt	A
chr22:18910307	seqdb_ref	G
chr22:18910307	snp_fw_seq3	TGG/TAG
chr22:18910307	snp_rv_seq3	CCA/CTA
chr22:18910307	func	intronic,intronic
chr22:18910307	transcript	NM_001195226,NM_016335
chr22:18910307	genomic	.,.
chr22:18910307	codon	.,.
chr22:18910307	protein	.,.
chr22:18910307	worst	intronic
chr22:18910307	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18910307	nvar	1
chr22:18910307	var	chr22:18910307:G/A
chr22:18910479	allele_ref	C
chr22:18910479	allele_alt	T
chr22:18910479	seqdb_ref	C
chr22:18910479	snp_fw_seq3	ACG/ATG
chr22:18910479	snp_rv_seq3	CGT/CAT
chr22:18910479	func	intronic,intronic
chr22:18910479	transcript	NM_001195226,NM_016335
chr22:18910479	genomic	.,.
chr22:18910479	codon	.,.
chr22:18910479	protein	.,.
chr22:18910479	worst	intronic
chr22:18910479	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18910479	nvar	1
chr22:18910479	var	chr22:18910479:C/T
chr22:18912531	allele_ref	G
chr22:18912531	allele_alt	A
chr22:18912531	seqdb_ref	G
chr22:18912531	snp_fw_seq3	GGC/GAC
chr22:18912531	snp_rv_seq3	GCC/GTC
chr22:18912531	func	intronic,intronic
chr22:18912531	transcript	NM_001195226,NM_016335
chr22:18912531	genomic	.,.
chr22:18912531	codon	.,.
chr22:18912531	protein	.,.
chr22:18912531	worst	intronic
chr22:18912531	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18912531	nvar	1
chr22:18912531	var	chr22:18912531:G/A
chr22:18912677	allele_ref	C
chr22:18912677	allele_alt	T
chr22:18912677	seqdb_ref	C
chr22:18912677	snp_fw_seq3	CCA/CTA
chr22:18912677	snp_rv_seq3	TGG/TAG
chr22:18912677	func	nonsense,nonsense
chr22:18912677	annot_details	NMD=1,OFPTV=1,PEPSIZE=493->77,HGVS=p.W77*,NMD=1,OFPTV=1,PEPSIZE=601->185,HGVS=p.W185*
chr22:18912677	transcript	NM_001195226,NM_016335
chr22:18912677	genomic	g.230C>T,g.554C>T
chr22:18912677	codon	c.230TGG>TAG,c.554TGG>TAG
chr22:18912677	protein	p.77W>*,p.185W>*
chr22:18912677	worst	nonsense
chr22:18912677	class	nonsense,NON=2,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18912677	nvar	1
chr22:18912677	var	chr22:18912677:C/T
chr22:18912678	allele_ref	A
chr22:18912678	allele_alt	G
chr22:18912678	seqdb_ref	A
chr22:18912678	snp_fw_seq3	CAG/CGG
chr22:18912678	snp_rv_seq3	CTG/CCG
chr22:18912678	func	missense,missense
chr22:18912678	transcript	NM_001195226,NM_016335
chr22:18912678	genomic	g.229A>G,g.553A>G
chr22:18912678	codon	c.229TGG>CGG,c.553TGG>CGG
chr22:18912678	protein	p.77W>R,p.185W>R
chr22:18912678	worst	missense
chr22:18912678	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18912678	nvar	1
chr22:18912678	var	chr22:18912678:A/G
chr22:18913277	allele_ref	C
chr22:18913277	allele_alt	G
chr22:18913277	seqdb_ref	C
chr22:18913277	snp_fw_seq3	ACC/AGC
chr22:18913277	snp_rv_seq3	GGT/GCT
chr22:18913277	func	intronic,intronic
chr22:18913277	transcript	NM_001195226,NM_016335
chr22:18913277	genomic	.,.
chr22:18913277	codon	.,.
chr22:18913277	protein	.,.
chr22:18913277	worst	intronic
chr22:18913277	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18913277	nvar	1
chr22:18913277	var	chr22:18913277:C/G
chr22:18918760	allele_ref	T
chr22:18918760	allele_alt	C
chr22:18918760	seqdb_ref	T
chr22:18918760	snp_fw_seq3	TTC/TCC
chr22:18918760	snp_rv_seq3	GAA/GGA
chr22:18918760	func	intronic,intronic
chr22:18918760	transcript	NM_001195226,NM_016335
chr22:18918760	genomic	.,.
chr22:18918760	codon	.,.
chr22:18918760	protein	.,.
chr22:18918760	worst	intronic
chr22:18918760	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:18918760	nvar	1
chr22:18918760	var	chr22:18918760:T/C
chr22:19026613	allele_ref	A
chr22:19026613	allele_alt	G
chr22:19026613	seqdb_ref	A
chr22:19026613	snp_fw_seq3	CAC/CGC
chr22:19026613	snp_rv_seq3	GTG/GCG
chr22:19026613	func	missense,missense,missense,missense,npcRNA
chr22:19026613	transcript	NM_001173533,NM_001173534,NM_001184781,NM_005137,NR_033674
chr22:19026613	genomic	g.1295A>G,g.1286A>G,g.1409A>G,g.1418A>G,.
chr22:19026613	codon	c.1295GTG>GCG,c.1286GTG>GCG,c.1409GTG>GCG,c.1418GTG>GCG,.
chr22:19026613	protein	p.432V>A,p.429V>A,p.470V>A,p.473V>A,.
chr22:19026613	worst	missense
chr22:19026613	class	mixed,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:19026613	nvar	1
chr22:19026613	var	chr22:19026613:A/G
chr22:19050698	allele_ref	A
chr22:19050698	allele_alt	C
chr22:19050698	seqdb_ref	A
chr22:19050698	snp_fw_seq3	CAC/CCC
chr22:19050698	snp_rv_seq3	GTG/GGG
chr22:19050698	func	intronic,intronic,intronic,intronic,intronic
chr22:19050698	transcript	NM_001173533,NM_001173534,NM_001184781,NM_005137,NR_033674
chr22:19050698	genomic	.,.,.,.,.
chr22:19050698	codon	.,.,.,.,.
chr22:19050698	protein	.,.,.,.,.
chr22:19050698	worst	intronic
chr22:19050698	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19050698	nvar	1
chr22:19050698	var	chr22:19050698:A/C
chr22:19050827	allele_ref	G
chr22:19050827	allele_alt	A
chr22:19050827	seqdb_ref	G
chr22:19050827	snp_fw_seq3	CGG/CAG
chr22:19050827	snp_rv_seq3	CCG/CTG
chr22:19050827	func	intronic,intronic,intronic,intronic,intronic
chr22:19050827	transcript	NM_001173533,NM_001173534,NM_001184781,NM_005137,NR_033674
chr22:19050827	genomic	.,.,.,.,.
chr22:19050827	codon	.,.,.,.,.
chr22:19050827	protein	.,.,.,.,.
chr22:19050827	worst	intronic
chr22:19050827	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19050827	nvar	1
chr22:19050827	var	chr22:19050827:G/A
chr22:19052486	allele_ref	G
chr22:19052486	allele_alt	A
chr22:19052486	seqdb_ref	G
chr22:19052486	snp_fw_seq3	CGG/CAG
chr22:19052486	snp_rv_seq3	CCG/CTG
chr22:19052486	func	silent,silent,silent,silent,npcRNA
chr22:19052486	transcript	NM_001173533,NM_001173534,NM_001184781,NM_005137,NR_033674
chr22:19052486	genomic	.,.,.,.,.
chr22:19052486	codon	.,.,.,.,.
chr22:19052486	protein	.,.,.,.,.
chr22:19052486	worst	silent
chr22:19052486	class	mixed,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:19052486	nvar	1
chr22:19052486	var	chr22:19052486:G/A
chr22:19055688	allele_ref	G
chr22:19055688	allele_alt	A
chr22:19055688	seqdb_ref	G
chr22:19055688	snp_fw_seq3	CGC/CAC
chr22:19055688	snp_rv_seq3	GCG/GTG
chr22:19055688	func	missense,missense,missense,missense,npcRNA
chr22:19055688	transcript	NM_001173533,NM_001173534,NM_001184781,NM_005137,NR_033674
chr22:19055688	genomic	g.130G>A,g.130G>A,g.253G>A,g.253G>A,.
chr22:19055688	codon	c.130CGG>TGG,c.130CGG>TGG,c.253CGG>TGG,c.253CGG>TGG,.
chr22:19055688	protein	p.44R>W,p.44R>W,p.85R>W,p.85R>W,.
chr22:19055688	worst	missense
chr22:19055688	class	mixed,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:19055688	nvar	1
chr22:19055688	var	chr22:19055688:G/A
chr22:19077049	allele_ref	C
chr22:19077049	allele_alt	T
chr22:19077049	seqdb_ref	c
chr22:19077049	snp_fw_seq3	gcc/gTc
chr22:19077049	snp_rv_seq3	ggc/gAc
chr22:19077049	func	intronic,intronic,intronic,intronic,intronic
chr22:19077049	transcript	NM_001173533,NM_001173534,NM_001184781,NM_005137,NR_033674
chr22:19077049	genomic	.,.,.,.,.
chr22:19077049	codon	.,.,.,.,.
chr22:19077049	protein	.,.,.,.,.
chr22:19077049	worst	intronic
chr22:19077049	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19077049	nvar	1
chr22:19077049	var	chr22:19077049:C/T
chr22:19109609	allele_ref	A
chr22:19109609	allele_alt	C
chr22:19109609	seqdb_ref	A
chr22:19109609	snp_fw_seq3	CAG/CCG
chr22:19109609	snp_rv_seq3	CTG/CGG
chr22:19109609	func	intronic,intronic,intronic,intronic,intronic
chr22:19109609	transcript	NM_001173533,NM_001173534,NM_001184781,NM_005137,NR_033674
chr22:19109609	genomic	.,.,.,.,.
chr22:19109609	codon	.,.,.,.,.
chr22:19109609	protein	.,.,.,.,.
chr22:19109609	worst	intronic
chr22:19109609	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19109609	nvar	1
chr22:19109609	var	chr22:19109609:A/C
chr22:19109753	allele_ref	A
chr22:19109753	allele_alt	G
chr22:19109753	seqdb_ref	A
chr22:19109753	snp_fw_seq3	GAA/GGA
chr22:19109753	snp_rv_seq3	TTC/TCC
chr22:19109753	func	5-UTR,5-UTR,5-UTR,5-UTR,npcRNA
chr22:19109753	transcript	NM_001173533,NM_001173534,NM_001184781,NM_005137,NR_033674
chr22:19109753	genomic	.,.,.,.,.
chr22:19109753	codon	.,.,.,.,.
chr22:19109753	protein	.,.,.,.,.
chr22:19109753	worst	UTR5
chr22:19109753	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=4,UTR3=0,npcRNA=1
chr22:19109753	nvar	1
chr22:19109753	var	chr22:19109753:A/G
chr22:19109764	allele_ref	A
chr22:19109764	allele_alt	G
chr22:19109764	seqdb_ref	A
chr22:19109764	snp_fw_seq3	CAG/CGG
chr22:19109764	snp_rv_seq3	CTG/CCG
chr22:19109764	func	5-UTR,5-UTR,5-UTR,5-UTR,npcRNA
chr22:19109764	transcript	NM_001173533,NM_001173534,NM_001184781,NM_005137,NR_033674
chr22:19109764	genomic	.,.,.,.,.
chr22:19109764	codon	.,.,.,.,.
chr22:19109764	protein	.,.,.,.,.
chr22:19109764	worst	UTR5
chr22:19109764	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=4,UTR3=0,npcRNA=1
chr22:19109764	nvar	1
chr22:19109764	var	chr22:19109764:A/G
chr22:19118992	allele_ref	A
chr22:19118992	allele_alt	G
chr22:19118992	seqdb_ref	A
chr22:19118992	snp_fw_seq3	AAA/AGA
chr22:19118992	snp_rv_seq3	TTT/TCT
chr22:19118992	func	3-UTR,missense
chr22:19118992	transcript	NM_022719,NM_053006
chr22:19118992	genomic	.,g.80A>G
chr22:19118992	codon	.,c.80AAA>AGA
chr22:19118992	protein	.,p.27K>R
chr22:19118992	worst	missense
chr22:19118992	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:19118992	nvar	1
chr22:19118992	var	chr22:19118992:A/G
chr22:19119162	allele_ref	G
chr22:19119162	allele_alt	A
chr22:19119162	seqdb_ref	G
chr22:19119162	snp_fw_seq3	CGG/CAG
chr22:19119162	snp_rv_seq3	CCG/CTG
chr22:19119162	func	3-UTR,missense
chr22:19119162	transcript	NM_022719,NM_053006
chr22:19119162	genomic	.,g.250G>A
chr22:19119162	codon	.,c.250GGA>AGA
chr22:19119162	protein	.,p.84G>R
chr22:19119162	worst	missense
chr22:19119162	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:19119162	nvar	1
chr22:19119162	var	chr22:19119162:G/A
chr22:19119545	allele_ref	C
chr22:19119545	allele_alt	T
chr22:19119545	seqdb_ref	C
chr22:19119545	snp_fw_seq3	GCG/GTG
chr22:19119545	snp_rv_seq3	CGC/CAC
chr22:19119545	func	3-UTR,silent
chr22:19119545	transcript	NM_022719,NM_053006
chr22:19119545	genomic	.,.
chr22:19119545	codon	.,.
chr22:19119545	protein	.,.
chr22:19119545	worst	silent
chr22:19119545	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:19119545	nvar	1
chr22:19119545	var	chr22:19119545:C/T
chr22:19119589	allele_ref	G
chr22:19119589	allele_alt	A
chr22:19119589	seqdb_ref	G
chr22:19119589	snp_fw_seq3	CGT/CAT
chr22:19119589	snp_rv_seq3	ACG/ATG
chr22:19119589	func	3-UTR,missense
chr22:19119589	transcript	NM_022719,NM_053006
chr22:19119589	genomic	.,g.677G>A
chr22:19119589	codon	.,c.677CGT>CAT
chr22:19119589	protein	.,p.226R>H
chr22:19119589	worst	missense
chr22:19119589	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:19119589	nvar	1
chr22:19119589	var	chr22:19119589:G/A
chr22:19119686	allele_ref	C
chr22:19119686	allele_alt	T
chr22:19119686	seqdb_ref	C
chr22:19119686	snp_fw_seq3	GCC/GTC
chr22:19119686	snp_rv_seq3	GGC/GAC
chr22:19119686	func	3-UTR,silent
chr22:19119686	transcript	NM_022719,NM_053006
chr22:19119686	genomic	.,.
chr22:19119686	codon	.,.
chr22:19119686	protein	.,.
chr22:19119686	worst	silent
chr22:19119686	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:19119686	nvar	1
chr22:19119686	var	chr22:19119686:C/T
chr22:19119751	allele_ref	C
chr22:19119751	allele_alt	T
chr22:19119751	seqdb_ref	C
chr22:19119751	snp_fw_seq3	ACG/ATG
chr22:19119751	snp_rv_seq3	CGT/CAT
chr22:19119751	func	3-UTR,missense
chr22:19119751	transcript	NM_022719,NM_053006
chr22:19119751	genomic	.,g.839C>T
chr22:19119751	codon	.,c.839ACG>ATG
chr22:19119751	protein	.,p.280T>M
chr22:19119751	worst	missense
chr22:19119751	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:19119751	nvar	1
chr22:19119751	var	chr22:19119751:C/T
chr22:19119938	allele_ref	G
chr22:19119938	allele_alt	A
chr22:19119938	seqdb_ref	G
chr22:19119938	snp_fw_seq3	GGG/GAG
chr22:19119938	snp_rv_seq3	CCC/CTC
chr22:19119938	func	3-UTR,silent
chr22:19119938	transcript	NM_022719,NM_053006
chr22:19119938	genomic	.,.
chr22:19119938	codon	.,.
chr22:19119938	protein	.,.
chr22:19119938	worst	silent
chr22:19119938	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:19119938	nvar	1
chr22:19119938	var	chr22:19119938:G/A
chr22:19121722	allele_ref	G
chr22:19121722	allele_alt	C
chr22:19121722	seqdb_ref	G
chr22:19121722	snp_fw_seq3	CGA/CCA
chr22:19121722	snp_rv_seq3	TCG/TGG
chr22:19121722	func	missense
chr22:19121722	transcript	NM_022719
chr22:19121722	genomic	g.1418G>C
chr22:19121722	codon	c.1418TCG>TGG
chr22:19121722	protein	p.473S>W
chr22:19121722	worst	missense
chr22:19121722	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19121722	nvar	1
chr22:19121722	var	chr22:19121722:G/C
chr22:19121872	allele_ref	G
chr22:19121872	allele_alt	A
chr22:19121872	seqdb_ref	G
chr22:19121872	snp_fw_seq3	TGC/TAC
chr22:19121872	snp_rv_seq3	GCA/GTA
chr22:19121872	func	missense
chr22:19121872	transcript	NM_022719
chr22:19121872	genomic	g.1268G>A
chr22:19121872	codon	c.1268GCA>GTA
chr22:19121872	protein	p.423A>V
chr22:19121872	worst	missense
chr22:19121872	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19121872	nvar	1
chr22:19121872	var	chr22:19121872:G/A
chr22:19122665	allele_ref	C
chr22:19122665	allele_alt	T
chr22:19122665	seqdb_ref	C
chr22:19122665	snp_fw_seq3	GCT/GTT
chr22:19122665	snp_rv_seq3	AGC/AAC
chr22:19122665	func	silent
chr22:19122665	transcript	NM_022719
chr22:19122665	genomic	.
chr22:19122665	codon	.
chr22:19122665	protein	.
chr22:19122665	worst	silent
chr22:19122665	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19122665	nvar	1
chr22:19122665	var	chr22:19122665:C/T
chr22:19126631	allele_ref	T
chr22:19126631	allele_alt	C
chr22:19126631	seqdb_ref	T
chr22:19126631	snp_fw_seq3	GTC/GCC
chr22:19126631	snp_rv_seq3	GAC/GGC
chr22:19126631	func	intronic
chr22:19126631	transcript	NM_022719
chr22:19126631	genomic	.
chr22:19126631	codon	.
chr22:19126631	protein	.
chr22:19126631	worst	intronic
chr22:19126631	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19126631	nvar	1
chr22:19126631	var	chr22:19126631:T/C
chr22:19126794	allele_ref	C
chr22:19126794	allele_alt	T
chr22:19126794	seqdb_ref	C
chr22:19126794	snp_fw_seq3	TCG/TTG
chr22:19126794	snp_rv_seq3	CGA/CAA
chr22:19126794	func	missense
chr22:19126794	transcript	NM_022719
chr22:19126794	genomic	g.700C>T
chr22:19126794	codon	c.700GAG>AAG
chr22:19126794	protein	p.234E>K
chr22:19126794	worst	missense
chr22:19126794	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19126794	nvar	1
chr22:19126794	var	chr22:19126794:C/T
chr22:19132061	allele_ref	C
chr22:19132061	allele_alt	T
chr22:19132061	seqdb_ref	C
chr22:19132061	snp_fw_seq3	TCG/TTG
chr22:19132061	snp_rv_seq3	CGA/CAA
chr22:19132061	func	silent
chr22:19132061	transcript	NM_022719
chr22:19132061	genomic	.
chr22:19132061	codon	.
chr22:19132061	protein	.
chr22:19132061	worst	silent
chr22:19132061	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19132061	nvar	1
chr22:19132061	var	chr22:19132061:C/T
chr22:19132155	allele_ref	G
chr22:19132155	allele_alt	C
chr22:19132155	seqdb_ref	G
chr22:19132155	snp_fw_seq3	CGC/CCC
chr22:19132155	snp_rv_seq3	GCG/GGG
chr22:19132155	func	5-UTR
chr22:19132155	transcript	NM_022719
chr22:19132155	genomic	.
chr22:19132155	codon	.
chr22:19132155	protein	.
chr22:19132155	worst	UTR5
chr22:19132155	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:19132155	nvar	1
chr22:19132155	var	chr22:19132155:G/C
chr22:19136621	allele_ref	G
chr22:19136621	allele_alt	T
chr22:19136621	seqdb_ref	G
chr22:19136621	snp_fw_seq3	GGG/GTG
chr22:19136621	snp_rv_seq3	CCC/CAC
chr22:19136621	func	intronic
chr22:19136621	transcript	NM_005315
chr22:19136621	genomic	.
chr22:19136621	codon	.
chr22:19136621	protein	.
chr22:19136621	worst	intronic
chr22:19136621	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19136621	nvar	1
chr22:19136621	var	chr22:19136621:G/T
chr22:19137141	allele_ref	G
chr22:19137141	allele_alt	A
chr22:19137141	seqdb_ref	G
chr22:19137141	snp_fw_seq3	CGC/CAC
chr22:19137141	snp_rv_seq3	GCG/GTG
chr22:19137141	func	intronic
chr22:19137141	transcript	NM_005315
chr22:19137141	genomic	.
chr22:19137141	codon	.
chr22:19137141	protein	.
chr22:19137141	worst	intronic
chr22:19137141	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19137141	nvar	1
chr22:19137141	var	chr22:19137141:G/A
chr22:19165216	allele_ref	G
chr22:19165216	allele_alt	A
chr22:19165216	seqdb_ref	G
chr22:19165216	snp_fw_seq3	GGG/GAG
chr22:19165216	snp_rv_seq3	CCC/CTC
chr22:19165216	func	intronic,intronic,intronic,intronic
chr22:19165216	transcript	NM_001256534,NM_005984,NR_033687,NR_046298
chr22:19165216	genomic	.,.,.,.
chr22:19165216	codon	.,.,.,.
chr22:19165216	protein	.,.,.,.
chr22:19165216	worst	intronic
chr22:19165216	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19165216	nvar	1
chr22:19165216	var	chr22:19165216:G/A
chr22:19165478	allele_ref	A
chr22:19165478	allele_alt	G
chr22:19165478	seqdb_ref	A
chr22:19165478	snp_fw_seq3	AAC/AGC
chr22:19165478	snp_rv_seq3	GTT/GCT
chr22:19165478	func	silent,silent,npcRNA,npcRNA
chr22:19165478	transcript	NM_001256534,NM_005984,NR_033687,NR_046298
chr22:19165478	genomic	.,.,.,.
chr22:19165478	codon	.,.,.,.
chr22:19165478	protein	.,.,.,.
chr22:19165478	worst	silent
chr22:19165478	class	mixed,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:19165478	nvar	1
chr22:19165478	var	chr22:19165478:A/G
chr22:19167801	allele_ref	C
chr22:19167801	allele_alt	T
chr22:19167801	seqdb_ref	C
chr22:19167801	snp_fw_seq3	ACG/ATG
chr22:19167801	snp_rv_seq3	CGT/CAT
chr22:19167801	func	intronic,intronic
chr22:19167801	transcript	NM_001835,NM_007098
chr22:19167801	genomic	.,.
chr22:19167801	codon	.,.
chr22:19167801	protein	.,.
chr22:19167801	worst	intronic
chr22:19167801	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19167801	nvar	1
chr22:19167801	var	chr22:19167801:C/T
chr22:19170888	allele_ref	C
chr22:19170888	allele_alt	T
chr22:19170888	seqdb_ref	C
chr22:19170888	snp_fw_seq3	CCG/CTG
chr22:19170888	snp_rv_seq3	CGG/CAG
chr22:19170888	func	intronic,intronic
chr22:19170888	transcript	NM_001835,NM_007098
chr22:19170888	genomic	.,.
chr22:19170888	codon	.,.
chr22:19170888	protein	.,.
chr22:19170888	worst	intronic
chr22:19170888	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19170888	nvar	1
chr22:19170888	var	chr22:19170888:C/T
chr22:19170956	allele_ref	C
chr22:19170956	allele_alt	G
chr22:19170956	seqdb_ref	C
chr22:19170956	snp_fw_seq3	ACG/AGG
chr22:19170956	snp_rv_seq3	CGT/CCT
chr22:19170956	func	missense,missense
chr22:19170956	transcript	NM_001835,NM_007098
chr22:19170956	genomic	g.4603C>G,g.4774C>G
chr22:19170956	codon	c.4603GTG>CTG,c.4774GTG>CTG
chr22:19170956	protein	p.1535V>L,p.1592V>L
chr22:19170956	worst	missense
chr22:19170956	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19170956	nvar	1
chr22:19170956	var	chr22:19170956:C/G
chr22:19175095	allele_ref	A
chr22:19175095	allele_alt	C
chr22:19175095	seqdb_ref	A
chr22:19175095	snp_fw_seq3	GAG/GCG
chr22:19175095	snp_rv_seq3	CTC/CGC
chr22:19175095	func	intronic,missense
chr22:19175095	transcript	NM_001835,NM_007098
chr22:19175095	genomic	.,g.4580A>C
chr22:19175095	codon	.,c.4580CTC>CGC
chr22:19175095	protein	.,p.1527L>R
chr22:19175095	worst	missense
chr22:19175095	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19175095	nvar	1
chr22:19175095	var	chr22:19175095:A/C
chr22:19175133	allele_ref	C
chr22:19175133	allele_alt	A
chr22:19175133	seqdb_ref	C
chr22:19175133	snp_fw_seq3	ACA/AAA
chr22:19175133	snp_rv_seq3	TGT/TTT
chr22:19175133	func	intronic,silent
chr22:19175133	transcript	NM_001835,NM_007098
chr22:19175133	genomic	.,.
chr22:19175133	codon	.,.
chr22:19175133	protein	.,.
chr22:19175133	worst	silent
chr22:19175133	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19175133	nvar	1
chr22:19175133	var	chr22:19175133:C/A
chr22:19175623	allele_ref	G
chr22:19175623	allele_alt	A
chr22:19175623	seqdb_ref	G
chr22:19175623	snp_fw_seq3	CGT/CAT
chr22:19175623	snp_rv_seq3	ACG/ATG
chr22:19175623	func	intronic,intronic
chr22:19175623	transcript	NM_001835,NM_007098
chr22:19175623	genomic	.,.
chr22:19175623	codon	.,.
chr22:19175623	protein	.,.
chr22:19175623	worst	intronic
chr22:19175623	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19175623	nvar	1
chr22:19175623	var	chr22:19175623:G/A
chr22:19183787	allele_ref	A
chr22:19183787	allele_alt	G
chr22:19183787	seqdb_ref	A
chr22:19183787	snp_fw_seq3	GAT/GGT
chr22:19183787	snp_rv_seq3	ATC/ACC
chr22:19183787	func	missense,missense
chr22:19183787	transcript	NM_001835,NM_007098
chr22:19183787	genomic	g.4181A>G,g.4181A>G
chr22:19183787	codon	c.4181ATC>ACC,c.4181ATC>ACC
chr22:19183787	protein	p.1394I>T,p.1394I>T
chr22:19183787	worst	missense
chr22:19183787	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19183787	nvar	1
chr22:19183787	var	chr22:19183787:A/G
chr22:19184095	allele_ref	T
chr22:19184095	allele_alt	C
chr22:19184095	seqdb_ref	T
chr22:19184095	snp_fw_seq3	ATG/ACG
chr22:19184095	snp_rv_seq3	CAT/CGT
chr22:19184095	func	missense,missense
chr22:19184095	transcript	NM_001835,NM_007098
chr22:19184095	genomic	g.3946T>C,g.3946T>C
chr22:19184095	codon	c.3946ATG>GTG,c.3946ATG>GTG
chr22:19184095	protein	p.1316M>V,p.1316M>V
chr22:19184095	worst	missense
chr22:19184095	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19184095	nvar	1
chr22:19184095	var	chr22:19184095:T/C
chr22:19187375	allele_ref	G
chr22:19187375	allele_alt	A
chr22:19187375	seqdb_ref	G
chr22:19187375	snp_fw_seq3	TGA/TAA
chr22:19187375	snp_rv_seq3	TCA/TTA
chr22:19187375	func	intronic,intronic
chr22:19187375	transcript	NM_001835,NM_007098
chr22:19187375	genomic	.,.
chr22:19187375	codon	.,.
chr22:19187375	protein	.,.
chr22:19187375	worst	intronic
chr22:19187375	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19187375	nvar	1
chr22:19187375	var	chr22:19187375:G/A
chr22:19189027	allele_ref	C
chr22:19189027	allele_alt	T
chr22:19189027	seqdb_ref	C
chr22:19189027	snp_fw_seq3	ACT/ATT
chr22:19189027	snp_rv_seq3	AGT/AAT
chr22:19189027	func	intronic,intronic
chr22:19189027	transcript	NM_001835,NM_007098
chr22:19189027	genomic	.,.
chr22:19189027	codon	.,.
chr22:19189027	protein	.,.
chr22:19189027	worst	intronic
chr22:19189027	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19189027	nvar	1
chr22:19189027	var	chr22:19189027:C/T
chr22:19195680	allele_ref	T
chr22:19195680	allele_alt	C
chr22:19195680	seqdb_ref	T
chr22:19195680	snp_fw_seq3	ATT/ACT
chr22:19195680	snp_rv_seq3	AAT/AGT
chr22:19195680	func	missense,missense
chr22:19195680	transcript	NM_001835,NM_007098
chr22:19195680	genomic	g.3584T>C,g.3584T>C
chr22:19195680	codon	c.3584AAT>AGT,c.3584AAT>AGT
chr22:19195680	protein	p.1195N>S,p.1195N>S
chr22:19195680	worst	missense
chr22:19195680	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19195680	nvar	1
chr22:19195680	var	chr22:19195680:T/C
chr22:19196502	allele_ref	G
chr22:19196502	allele_alt	A
chr22:19196502	seqdb_ref	G
chr22:19196502	snp_fw_seq3	TGG/TAG
chr22:19196502	snp_rv_seq3	CCA/CTA
chr22:19196502	func	silent,silent
chr22:19196502	transcript	NM_001835,NM_007098
chr22:19196502	genomic	.,.
chr22:19196502	codon	.,.
chr22:19196502	protein	.,.
chr22:19196502	worst	silent
chr22:19196502	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19196502	nvar	1
chr22:19196502	var	chr22:19196502:G/A
chr22:19197896	allele_ref	T
chr22:19197896	allele_alt	C
chr22:19197896	seqdb_ref	T
chr22:19197896	snp_fw_seq3	GTG/GCG
chr22:19197896	snp_rv_seq3	CAC/CGC
chr22:19197896	func	silent,silent
chr22:19197896	transcript	NM_001835,NM_007098
chr22:19197896	genomic	.,.
chr22:19197896	codon	.,.
chr22:19197896	protein	.,.
chr22:19197896	worst	silent
chr22:19197896	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19197896	nvar	1
chr22:19197896	var	chr22:19197896:T/C
chr22:19197949	allele_ref	G
chr22:19197949	allele_alt	A
chr22:19197949	seqdb_ref	G
chr22:19197949	snp_fw_seq3	CGG/CAG
chr22:19197949	snp_rv_seq3	CCG/CTG
chr22:19197949	func	missense,missense
chr22:19197949	transcript	NM_001835,NM_007098
chr22:19197949	genomic	g.3136G>A,g.3136G>A
chr22:19197949	codon	c.3136CGC>TGC,c.3136CGC>TGC
chr22:19197949	protein	p.1046R>C,p.1046R>C
chr22:19197949	worst	missense
chr22:19197949	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19197949	nvar	1
chr22:19197949	var	chr22:19197949:G/A
chr22:19197988	allele_ref	T
chr22:19197988	allele_alt	A
chr22:19197988	seqdb_ref	T
chr22:19197988	snp_fw_seq3	ATG/AAG
chr22:19197988	snp_rv_seq3	CAT/CTT
chr22:19197988	func	missense,missense
chr22:19197988	transcript	NM_001835,NM_007098
chr22:19197988	genomic	g.3097T>A,g.3097T>A
chr22:19197988	codon	c.3097ATC>TTC,c.3097ATC>TTC
chr22:19197988	protein	p.1033I>F,p.1033I>F
chr22:19197988	worst	missense
chr22:19197988	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19197988	nvar	1
chr22:19197988	var	chr22:19197988:T/A
chr22:19203603	allele_ref	C
chr22:19203603	allele_alt	T
chr22:19203603	seqdb_ref	C
chr22:19203603	snp_fw_seq3	ACC/ATC
chr22:19203603	snp_rv_seq3	GGT/GAT
chr22:19203603	func	intronic,intronic
chr22:19203603	transcript	NM_001835,NM_007098
chr22:19203603	genomic	.,.
chr22:19203603	codon	.,.
chr22:19203603	protein	.,.
chr22:19203603	worst	intronic
chr22:19203603	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19203603	nvar	1
chr22:19203603	var	chr22:19203603:C/T
chr22:19209167	allele_ref	A
chr22:19209167	allele_alt	G
chr22:19209167	seqdb_ref	A
chr22:19209167	snp_fw_seq3	AAG/AGG
chr22:19209167	snp_rv_seq3	CTT/CCT
chr22:19209167	func	intronic,intronic
chr22:19209167	transcript	NM_001835,NM_007098
chr22:19209167	genomic	.,.
chr22:19209167	codon	.,.
chr22:19209167	protein	.,.
chr22:19209167	worst	intronic
chr22:19209167	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19209167	nvar	1
chr22:19209167	var	chr22:19209167:A/G
chr22:19212947	allele_ref	T
chr22:19212947	allele_alt	C
chr22:19212947	seqdb_ref	T
chr22:19212947	snp_fw_seq3	GTG/GCG
chr22:19212947	snp_rv_seq3	CAC/CGC
chr22:19212947	func	intronic,intronic
chr22:19212947	transcript	NM_001835,NM_007098
chr22:19212947	genomic	.,.
chr22:19212947	codon	.,.
chr22:19212947	protein	.,.
chr22:19212947	worst	intronic
chr22:19212947	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19212947	nvar	1
chr22:19212947	var	chr22:19212947:T/C
chr22:19212968	allele_ref	T
chr22:19212968	allele_alt	C
chr22:19212968	seqdb_ref	T
chr22:19212968	snp_fw_seq3	ATG/ACG
chr22:19212968	snp_rv_seq3	CAT/CGT
chr22:19212968	func	intronic,intronic
chr22:19212968	transcript	NM_001835,NM_007098
chr22:19212968	genomic	.,.
chr22:19212968	codon	.,.
chr22:19212968	protein	.,.
chr22:19212968	worst	intronic
chr22:19212968	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19212968	nvar	1
chr22:19212968	var	chr22:19212968:T/C
chr22:19213033	allele_ref	C
chr22:19213033	allele_alt	T
chr22:19213033	seqdb_ref	C
chr22:19213033	snp_fw_seq3	TCG/TTG
chr22:19213033	snp_rv_seq3	CGA/CAA
chr22:19213033	func	missense,missense
chr22:19213033	transcript	NM_001835,NM_007098
chr22:19213033	genomic	g.2071C>T,g.2071C>T
chr22:19213033	codon	c.2071GAG>AAG,c.2071GAG>AAG
chr22:19213033	protein	p.691E>K,p.691E>K
chr22:19213033	worst	missense
chr22:19213033	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19213033	nvar	1
chr22:19213033	var	chr22:19213033:C/T
chr22:19213744	allele_ref	C
chr22:19213744	allele_alt	T
chr22:19213744	seqdb_ref	C
chr22:19213744	snp_fw_seq3	TCG/TTG
chr22:19213744	snp_rv_seq3	CGA/CAA
chr22:19213744	func	splice,missense,splice,missense
chr22:19213744	annot_details	DIST=-2,NMD=0,OFPTV=0,EXIN=12,ISEQ=GTCATG,ESEQ=GAGCCC,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS12+-2G>A,DIST=-2,NMD=0,OFPTV=0,EXIN=12,ISEQ=GTCATG,ESEQ=GAGCCC,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS12+-2G>A
chr22:19213744	transcript	NM_001835,NM_001835,NM_007098,NM_007098
chr22:19213744	genomic	.,g.1945C>T,.,g.1945C>T
chr22:19213744	codon	.,c.1945GAG>AAG,.,c.1945GAG>AAG
chr22:19213744	protein	.,p.649E>K,.,p.649E>K
chr22:19213744	worst	missense
chr22:19213744	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19213744	nvar	1
chr22:19213744	var	chr22:19213744:C/T
chr22:19219980	allele_ref	C
chr22:19219980	allele_alt	T
chr22:19219980	seqdb_ref	C
chr22:19219980	snp_fw_seq3	CCA/CTA
chr22:19219980	snp_rv_seq3	TGG/TAG
chr22:19219980	func	intronic,intronic
chr22:19219980	transcript	NM_001835,NM_007098
chr22:19219980	genomic	.,.
chr22:19219980	codon	.,.
chr22:19219980	protein	.,.
chr22:19219980	worst	intronic
chr22:19219980	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19219980	nvar	1
chr22:19219980	var	chr22:19219980:C/T
chr22:19219991	allele_ref	A
chr22:19219991	allele_alt	G
chr22:19219991	seqdb_ref	A
chr22:19219991	snp_fw_seq3	TAC/TGC
chr22:19219991	snp_rv_seq3	GTA/GCA
chr22:19219991	func	intronic,intronic
chr22:19219991	transcript	NM_001835,NM_007098
chr22:19219991	genomic	.,.
chr22:19219991	codon	.,.
chr22:19219991	protein	.,.
chr22:19219991	worst	intronic
chr22:19219991	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19219991	nvar	1
chr22:19219991	var	chr22:19219991:A/G
chr22:19220065	allele_ref	C
chr22:19220065	allele_alt	T
chr22:19220065	seqdb_ref	C
chr22:19220065	snp_fw_seq3	CCG/CTG
chr22:19220065	snp_rv_seq3	CGG/CAG
chr22:19220065	func	silent,silent
chr22:19220065	transcript	NM_001835,NM_007098
chr22:19220065	genomic	.,.
chr22:19220065	codon	.,.
chr22:19220065	protein	.,.
chr22:19220065	worst	silent
chr22:19220065	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19220065	nvar	1
chr22:19220065	var	chr22:19220065:C/T
chr22:19220648	allele_ref	G
chr22:19220648	allele_alt	A
chr22:19220648	seqdb_ref	G
chr22:19220648	snp_fw_seq3	CGT/CAT
chr22:19220648	snp_rv_seq3	ACG/ATG
chr22:19220648	func	intronic,intronic
chr22:19220648	transcript	NM_001835,NM_007098
chr22:19220648	genomic	.,.
chr22:19220648	codon	.,.
chr22:19220648	protein	.,.
chr22:19220648	worst	intronic
chr22:19220648	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19220648	nvar	1
chr22:19220648	var	chr22:19220648:G/A
chr22:19220768	allele_ref	C
chr22:19220768	allele_alt	T
chr22:19220768	seqdb_ref	C
chr22:19220768	snp_fw_seq3	CCG/CTG
chr22:19220768	snp_rv_seq3	CGG/CAG
chr22:19220768	func	missense,missense
chr22:19220768	transcript	NM_001835,NM_007098
chr22:19220768	genomic	g.1442C>T,g.1442C>T
chr22:19220768	codon	c.1442CGG>CAG,c.1442CGG>CAG
chr22:19220768	protein	p.481R>Q,p.481R>Q
chr22:19220768	worst	missense
chr22:19220768	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19220768	nvar	1
chr22:19220768	var	chr22:19220768:C/T
chr22:19222138	allele_ref	C
chr22:19222138	allele_alt	T
chr22:19222138	seqdb_ref	C
chr22:19222138	snp_fw_seq3	ACG/ATG
chr22:19222138	snp_rv_seq3	CGT/CAT
chr22:19222138	func	missense,missense
chr22:19222138	transcript	NM_001835,NM_007098
chr22:19222138	genomic	g.1061C>T,g.1061C>T
chr22:19222138	codon	c.1061CGT>CAT,c.1061CGT>CAT
chr22:19222138	protein	p.354R>H,p.354R>H
chr22:19222138	worst	missense
chr22:19222138	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19222138	nvar	1
chr22:19222138	var	chr22:19222138:C/T
chr22:19222260	allele_ref	G
chr22:19222260	allele_alt	A
chr22:19222260	seqdb_ref	G
chr22:19222260	snp_fw_seq3	CGG/CAG
chr22:19222260	snp_rv_seq3	CCG/CTG
chr22:19222260	func	intronic,intronic
chr22:19222260	transcript	NM_001835,NM_007098
chr22:19222260	genomic	.,.
chr22:19222260	codon	.,.
chr22:19222260	protein	.,.
chr22:19222260	worst	intronic
chr22:19222260	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19222260	nvar	1
chr22:19222260	var	chr22:19222260:G/A
chr22:19223352	allele_ref	T
chr22:19223352	allele_alt	C
chr22:19223352	seqdb_ref	T
chr22:19223352	snp_fw_seq3	ATA/ACA
chr22:19223352	snp_rv_seq3	TAT/TGT
chr22:19223352	func	missense,missense
chr22:19223352	transcript	NM_001835,NM_007098
chr22:19223352	genomic	g.836T>C,g.836T>C
chr22:19223352	codon	c.836TAT>TGT,c.836TAT>TGT
chr22:19223352	protein	p.279Y>C,p.279Y>C
chr22:19223352	worst	missense
chr22:19223352	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19223352	nvar	1
chr22:19223352	var	chr22:19223352:T/C
chr22:19226767	allele_ref	T
chr22:19226767	allele_alt	C
chr22:19226767	seqdb_ref	T
chr22:19226767	snp_fw_seq3	ATG/ACG
chr22:19226767	snp_rv_seq3	CAT/CGT
chr22:19226767	func	intronic,intronic
chr22:19226767	transcript	NM_001835,NM_007098
chr22:19226767	genomic	.,.
chr22:19226767	codon	.,.
chr22:19226767	protein	.,.
chr22:19226767	worst	intronic
chr22:19226767	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19226767	nvar	1
chr22:19226767	var	chr22:19226767:T/C
chr22:19241585	allele_ref	A
chr22:19241585	allele_alt	C
chr22:19241585	seqdb_ref	A
chr22:19241585	snp_fw_seq3	CAT/CCT
chr22:19241585	snp_rv_seq3	ATG/AGG
chr22:19241585	func	missense,missense
chr22:19241585	transcript	NM_001835,NM_007098
chr22:19241585	genomic	g.416A>C,g.416A>C
chr22:19241585	codon	c.416ATG>AGG,c.416ATG>AGG
chr22:19241585	protein	p.139M>R,p.139M>R
chr22:19241585	worst	missense
chr22:19241585	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19241585	nvar	1
chr22:19241585	var	chr22:19241585:A/C
chr22:19340928	allele_ref	G
chr22:19340928	allele_alt	A
chr22:19340928	seqdb_ref	G
chr22:19340928	snp_fw_seq3	CGT/CAT
chr22:19340928	snp_rv_seq3	ACG/ATG
chr22:19340928	func	silent
chr22:19340928	transcript	NM_003325
chr22:19340928	genomic	.
chr22:19340928	codon	.
chr22:19340928	protein	.
chr22:19340928	worst	silent
chr22:19340928	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19340928	nvar	1
chr22:19340928	var	chr22:19340928:G/A
chr22:19346835	allele_ref	G
chr22:19346835	allele_alt	A
chr22:19346835	seqdb_ref	G
chr22:19346835	snp_fw_seq3	CGG/CAG
chr22:19346835	snp_rv_seq3	CCG/CTG
chr22:19346835	func	intronic
chr22:19346835	transcript	NM_003325
chr22:19346835	genomic	.
chr22:19346835	codon	.
chr22:19346835	protein	.
chr22:19346835	worst	intronic
chr22:19346835	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19346835	nvar	1
chr22:19346835	var	chr22:19346835:G/A
chr22:19348896	allele_ref	C
chr22:19348896	allele_alt	T
chr22:19348896	seqdb_ref	C
chr22:19348896	snp_fw_seq3	GCT/GTT
chr22:19348896	snp_rv_seq3	AGC/AAC
chr22:19348896	func	intronic
chr22:19348896	transcript	NM_003325
chr22:19348896	genomic	.
chr22:19348896	codon	.
chr22:19348896	protein	.
chr22:19348896	worst	intronic
chr22:19348896	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19348896	nvar	1
chr22:19348896	var	chr22:19348896:C/T
chr22:19349470	allele_ref	A
chr22:19349470	allele_alt	G
chr22:19349470	seqdb_ref	a
chr22:19349470	snp_fw_seq3	tac/tGc
chr22:19349470	snp_rv_seq3	gta/gCa
chr22:19349470	func	intronic
chr22:19349470	transcript	NM_003325
chr22:19349470	genomic	.
chr22:19349470	codon	.
chr22:19349470	protein	.
chr22:19349470	worst	intronic
chr22:19349470	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19349470	nvar	1
chr22:19349470	var	chr22:19349470:A/G
chr22:19365526	allele_ref	G
chr22:19365526	allele_alt	C
chr22:19365526	seqdb_ref	G
chr22:19365526	snp_fw_seq3	AGA/ACA
chr22:19365526	snp_rv_seq3	TCT/TGT
chr22:19365526	func	silent
chr22:19365526	transcript	NM_003325
chr22:19365526	genomic	.
chr22:19365526	codon	.
chr22:19365526	protein	.
chr22:19365526	worst	silent
chr22:19365526	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19365526	nvar	1
chr22:19365526	var	chr22:19365526:G/C
chr22:19371166	allele_ref	G
chr22:19371166	allele_alt	A
chr22:19371166	seqdb_ref	G
chr22:19371166	snp_fw_seq3	AGA/AAA
chr22:19371166	snp_rv_seq3	TCT/TTT
chr22:19371166	func	silent
chr22:19371166	transcript	NM_003325
chr22:19371166	genomic	.
chr22:19371166	codon	.
chr22:19371166	protein	.
chr22:19371166	worst	silent
chr22:19371166	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19371166	nvar	1
chr22:19371166	var	chr22:19371166:G/A
chr22:19375217	allele_ref	A
chr22:19375217	allele_alt	G
chr22:19375217	seqdb_ref	A
chr22:19375217	snp_fw_seq3	CAA/CGA
chr22:19375217	snp_rv_seq3	TTG/TCG
chr22:19375217	func	intronic
chr22:19375217	transcript	NM_003325
chr22:19375217	genomic	.
chr22:19375217	codon	.
chr22:19375217	protein	.
chr22:19375217	worst	intronic
chr22:19375217	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19375217	nvar	1
chr22:19375217	var	chr22:19375217:A/G
chr22:19379574	allele_ref	C
chr22:19379574	allele_alt	T
chr22:19379574	seqdb_ref	C
chr22:19379574	snp_fw_seq3	ACC/ATC
chr22:19379574	snp_rv_seq3	GGT/GAT
chr22:19379574	func	intronic
chr22:19379574	transcript	NM_003325
chr22:19379574	genomic	.
chr22:19379574	codon	.
chr22:19379574	protein	.
chr22:19379574	worst	intronic
chr22:19379574	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19379574	nvar	1
chr22:19379574	var	chr22:19379574:C/T
chr22:19384439	allele_ref	G
chr22:19384439	allele_alt	A
chr22:19384439	seqdb_ref	G
chr22:19384439	snp_fw_seq3	AGC/AAC
chr22:19384439	snp_rv_seq3	GCT/GTT
chr22:19384439	func	silent
chr22:19384439	transcript	NM_003325
chr22:19384439	genomic	.
chr22:19384439	codon	.
chr22:19384439	protein	.
chr22:19384439	worst	silent
chr22:19384439	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19384439	nvar	1
chr22:19384439	var	chr22:19384439:G/A
chr22:19420109	allele_ref	T
chr22:19420109	allele_alt	C
chr22:19420109	seqdb_ref	T
chr22:19420109	snp_fw_seq3	CTA/CCA
chr22:19420109	snp_rv_seq3	TAG/TGG
chr22:19420109	func	missense
chr22:19420109	transcript	NM_003776
chr22:19420109	genomic	g.32T>C
chr22:19420109	codon	c.32CTA>CCA
chr22:19420109	protein	p.11L>P
chr22:19420109	worst	missense
chr22:19420109	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19420109	nvar	1
chr22:19420109	var	chr22:19420109:T/C
chr22:19420762	allele_ref	T
chr22:19420762	allele_alt	C
chr22:19420762	seqdb_ref	T
chr22:19420762	snp_fw_seq3	ATT/ACT
chr22:19420762	snp_rv_seq3	AAT/AGT
chr22:19420762	func	intronic
chr22:19420762	transcript	NM_003776
chr22:19420762	genomic	.
chr22:19420762	codon	.
chr22:19420762	protein	.
chr22:19420762	worst	intronic
chr22:19420762	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19420762	nvar	1
chr22:19420762	var	chr22:19420762:T/C
chr22:19423248	allele_ref	G
chr22:19423248	allele_alt	A
chr22:19423248	seqdb_ref	G
chr22:19423248	snp_fw_seq3	AGC/AAC
chr22:19423248	snp_rv_seq3	GCT/GTT
chr22:19423248	func	silent
chr22:19423248	transcript	NM_003776
chr22:19423248	genomic	.
chr22:19423248	codon	.
chr22:19423248	protein	.
chr22:19423248	worst	silent
chr22:19423248	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19423248	nvar	1
chr22:19423248	var	chr22:19423248:G/A
chr22:19423250	allele_ref	G
chr22:19423250	allele_alt	A
chr22:19423250	seqdb_ref	G
chr22:19423250	snp_fw_seq3	CGT/CAT
chr22:19423250	snp_rv_seq3	ACG/ATG
chr22:19423250	func	missense
chr22:19423250	transcript	NM_003776
chr22:19423250	genomic	g.386G>A
chr22:19423250	codon	c.386CGT>CAT
chr22:19423250	protein	p.129R>H
chr22:19423250	worst	missense
chr22:19423250	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19423250	nvar	1
chr22:19423250	var	chr22:19423250:G/A
chr22:19443171	allele_ref	C
chr22:19443171	allele_alt	T
chr22:19443171	seqdb_ref	C
chr22:19443171	snp_fw_seq3	TCC/TTC
chr22:19443171	snp_rv_seq3	GGA/GAA
chr22:19443171	func	intronic,intronic
chr22:19443171	transcript	NM_001035247,NM_005659
chr22:19443171	genomic	.,.
chr22:19443171	codon	.,.
chr22:19443171	protein	.,.
chr22:19443171	worst	intronic
chr22:19443171	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19443171	nvar	1
chr22:19443171	var	chr22:19443171:C/T
chr22:19443311	allele_ref	G
chr22:19443311	allele_alt	C
chr22:19443311	seqdb_ref	G
chr22:19443311	snp_fw_seq3	AGT/ACT
chr22:19443311	snp_rv_seq3	ACT/AGT
chr22:19443311	func	intronic,intronic
chr22:19443311	transcript	NM_001035247,NM_005659
chr22:19443311	genomic	.,.
chr22:19443311	codon	.,.
chr22:19443311	protein	.,.
chr22:19443311	worst	intronic
chr22:19443311	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19443311	nvar	1
chr22:19443311	var	chr22:19443311:G/C
chr22:19455376	allele_ref	C
chr22:19455376	allele_alt	T
chr22:19455376	seqdb_ref	C
chr22:19455376	snp_fw_seq3	CCG/CTG
chr22:19455376	snp_rv_seq3	CGG/CAG
chr22:19455376	func	intronic,intronic
chr22:19455376	transcript	NM_001035247,NM_005659
chr22:19455376	genomic	.,.
chr22:19455376	codon	.,.
chr22:19455376	protein	.,.
chr22:19455376	worst	intronic
chr22:19455376	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19455376	nvar	1
chr22:19455376	var	chr22:19455376:C/T
chr22:19455430	allele_ref	G
chr22:19455430	allele_alt	C
chr22:19455430	seqdb_ref	G
chr22:19455430	snp_fw_seq3	GGG/GCG
chr22:19455430	snp_rv_seq3	CCC/CGC
chr22:19455430	func	missense,missense
chr22:19455430	transcript	NM_001035247,NM_005659
chr22:19455430	genomic	g.388G>C,g.388G>C
chr22:19455430	codon	c.388CCT>GCT,c.388CCT>GCT
chr22:19455430	protein	p.130P>A,p.130P>A
chr22:19455430	worst	missense
chr22:19455430	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19455430	nvar	1
chr22:19455430	var	chr22:19455430:G/C
chr22:19463060	allele_ref	G
chr22:19463060	allele_alt	A
chr22:19463060	seqdb_ref	G
chr22:19463060	snp_fw_seq3	GGT/GAT
chr22:19463060	snp_rv_seq3	ACC/ATC
chr22:19463060	func	silent,silent
chr22:19463060	transcript	NM_001035247,NM_005659
chr22:19463060	genomic	.,.
chr22:19463060	codon	.,.
chr22:19463060	protein	.,.
chr22:19463060	worst	silent
chr22:19463060	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19463060	nvar	1
chr22:19463060	var	chr22:19463060:G/A
chr22:19467652	allele_ref	T
chr22:19467652	allele_alt	C
chr22:19467652	seqdb_ref	T
chr22:19467652	snp_fw_seq3	GTG/GCG
chr22:19467652	snp_rv_seq3	CAC/CGC
chr22:19467652	func	intronic,intronic,intronic
chr22:19467652	transcript	NM_001178010,NM_001178011,NM_003504
chr22:19467652	genomic	.,.,.
chr22:19467652	codon	.,.,.
chr22:19467652	protein	.,.,.
chr22:19467652	worst	intronic
chr22:19467652	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19467652	nvar	1
chr22:19467652	var	chr22:19467652:T/C
chr22:19467717	allele_ref	C
chr22:19467717	allele_alt	T
chr22:19467717	seqdb_ref	C
chr22:19467717	snp_fw_seq3	TCT/TTT
chr22:19467717	snp_rv_seq3	AGA/AAA
chr22:19467717	func	silent,silent,silent
chr22:19467717	transcript	NM_001178010,NM_001178011,NM_003504
chr22:19467717	genomic	.,.,.
chr22:19467717	codon	.,.,.
chr22:19467717	protein	.,.,.
chr22:19467717	worst	silent
chr22:19467717	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19467717	nvar	1
chr22:19467717	var	chr22:19467717:C/T
chr22:19470201	allele_ref	C
chr22:19470201	allele_alt	T
chr22:19470201	seqdb_ref	C
chr22:19470201	snp_fw_seq3	TCC/TTC
chr22:19470201	snp_rv_seq3	GGA/GAA
chr22:19470201	func	intronic,intronic,intronic
chr22:19470201	transcript	NM_001178010,NM_001178011,NM_003504
chr22:19470201	genomic	.,.,.
chr22:19470201	codon	.,.,.
chr22:19470201	protein	.,.,.
chr22:19470201	worst	intronic
chr22:19470201	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19470201	nvar	1
chr22:19470201	var	chr22:19470201:C/T
chr22:19470305	allele_ref	C
chr22:19470305	allele_alt	T
chr22:19470305	seqdb_ref	C
chr22:19470305	snp_fw_seq3	ACA/ATA
chr22:19470305	snp_rv_seq3	TGT/TAT
chr22:19470305	func	silent,intronic,silent
chr22:19470305	transcript	NM_001178010,NM_001178011,NM_003504
chr22:19470305	genomic	.,.,.
chr22:19470305	codon	.,.,.
chr22:19470305	protein	.,.,.
chr22:19470305	worst	silent
chr22:19470305	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19470305	nvar	1
chr22:19470305	var	chr22:19470305:C/T
chr22:19471407	allele_ref	A
chr22:19471407	allele_alt	G
chr22:19471407	seqdb_ref	A
chr22:19471407	snp_fw_seq3	GAT/GGT
chr22:19471407	snp_rv_seq3	ATC/ACC
chr22:19471407	func	missense,missense,missense
chr22:19471407	transcript	NM_001178010,NM_001178011,NM_003504
chr22:19471407	genomic	g.365A>G,g.227A>G,g.365A>G
chr22:19471407	codon	c.365GAT>GGT,c.227GAT>GGT,c.365GAT>GGT
chr22:19471407	protein	p.122D>G,p.76D>G,p.122D>G
chr22:19471407	worst	missense
chr22:19471407	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19471407	nvar	1
chr22:19471407	var	chr22:19471407:A/G
chr22:19486600	allele_ref	C
chr22:19486600	allele_alt	T
chr22:19486600	seqdb_ref	C
chr22:19486600	snp_fw_seq3	GCT/GTT
chr22:19486600	snp_rv_seq3	AGC/AAC
chr22:19486600	func	intronic,intronic,intronic
chr22:19486600	transcript	NM_001178010,NM_001178011,NM_003504
chr22:19486600	genomic	.,.,.
chr22:19486600	codon	.,.,.
chr22:19486600	protein	.,.,.
chr22:19486600	worst	intronic
chr22:19486600	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19486600	nvar	1
chr22:19486600	var	chr22:19486600:C/T
chr22:19486707	allele_ref	G
chr22:19486707	allele_alt	T
chr22:19486707	seqdb_ref	G
chr22:19486707	snp_fw_seq3	AGC/ATC
chr22:19486707	snp_rv_seq3	GCT/GAT
chr22:19486707	func	intronic,intronic,intronic
chr22:19486707	transcript	NM_001178010,NM_001178011,NM_003504
chr22:19486707	genomic	.,.,.
chr22:19486707	codon	.,.,.
chr22:19486707	protein	.,.,.
chr22:19486707	worst	intronic
chr22:19486707	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19486707	nvar	1
chr22:19486707	var	chr22:19486707:G/T
chr22:19492987	allele_ref	G
chr22:19492987	allele_alt	A
chr22:19492987	seqdb_ref	G
chr22:19492987	snp_fw_seq3	GGA/GAA
chr22:19492987	snp_rv_seq3	TCC/TTC
chr22:19492987	func	silent,silent,silent
chr22:19492987	transcript	NM_001178010,NM_001178011,NM_003504
chr22:19492987	genomic	.,.,.
chr22:19492987	codon	.,.,.
chr22:19492987	protein	.,.,.
chr22:19492987	worst	silent
chr22:19492987	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19492987	nvar	1
chr22:19492987	var	chr22:19492987:G/A
chr22:19502445	allele_ref	C
chr22:19502445	allele_alt	T
chr22:19502445	seqdb_ref	C
chr22:19502445	snp_fw_seq3	ACA/ATA
chr22:19502445	snp_rv_seq3	TGT/TAT
chr22:19502445	func	intronic,intronic,intronic
chr22:19502445	transcript	NM_001178010,NM_001178011,NM_003504
chr22:19502445	genomic	.,.,.
chr22:19502445	codon	.,.,.
chr22:19502445	protein	.,.,.
chr22:19502445	worst	intronic
chr22:19502445	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19502445	nvar	1
chr22:19502445	var	chr22:19502445:C/T
chr22:19504186	allele_ref	G
chr22:19504186	allele_alt	A
chr22:19504186	seqdb_ref	G
chr22:19504186	snp_fw_seq3	CGT/CAT
chr22:19504186	snp_rv_seq3	ACG/ATG
chr22:19504186	func	intronic,intronic,intronic
chr22:19504186	transcript	NM_001178010,NM_001178011,NM_003504
chr22:19504186	genomic	.,.,.
chr22:19504186	codon	.,.,.
chr22:19504186	protein	.,.,.
chr22:19504186	worst	intronic
chr22:19504186	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19504186	nvar	1
chr22:19504186	var	chr22:19504186:G/A
chr22:19504318	allele_ref	G
chr22:19504318	allele_alt	A
chr22:19504318	seqdb_ref	G
chr22:19504318	snp_fw_seq3	CGA/CAA
chr22:19504318	snp_rv_seq3	TCG/TTG
chr22:19504318	func	intronic,intronic,intronic
chr22:19504318	transcript	NM_001178010,NM_001178011,NM_003504
chr22:19504318	genomic	.,.,.
chr22:19504318	codon	.,.,.
chr22:19504318	protein	.,.,.
chr22:19504318	worst	intronic
chr22:19504318	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19504318	nvar	1
chr22:19504318	var	chr22:19504318:G/A
chr22:19504328	allele_ref	G
chr22:19504328	allele_alt	T
chr22:19504328	seqdb_ref	G
chr22:19504328	snp_fw_seq3	TGT/TTT
chr22:19504328	snp_rv_seq3	ACA/AAA
chr22:19504328	func	intronic,intronic,intronic
chr22:19504328	transcript	NM_001178010,NM_001178011,NM_003504
chr22:19504328	genomic	.,.,.
chr22:19504328	codon	.,.,.
chr22:19504328	protein	.,.,.
chr22:19504328	worst	intronic
chr22:19504328	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19504328	nvar	1
chr22:19504328	var	chr22:19504328:G/T
chr22:19506476	allele_ref	C
chr22:19506476	allele_alt	T
chr22:19506476	seqdb_ref	C
chr22:19506476	snp_fw_seq3	TCA/TTA
chr22:19506476	snp_rv_seq3	TGA/TAA
chr22:19506476	func	intronic,intronic,intronic
chr22:19506476	transcript	NM_001178010,NM_001178011,NM_003504
chr22:19506476	genomic	.,.,.
chr22:19506476	codon	.,.,.
chr22:19506476	protein	.,.,.
chr22:19506476	worst	intronic
chr22:19506476	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19506476	nvar	1
chr22:19506476	var	chr22:19506476:C/T
chr22:19511103	allele_ref	C
chr22:19511103	allele_alt	T
chr22:19511103	seqdb_ref	C
chr22:19511103	snp_fw_seq3	CCC/CTC
chr22:19511103	snp_rv_seq3	GGG/GAG
chr22:19511103	func	3-UTR,3-UTR
chr22:19511103	transcript	NM_001130861,NM_003277
chr22:19511103	genomic	.,.
chr22:19511103	codon	.,.
chr22:19511103	protein	.,.
chr22:19511103	worst	UTR3
chr22:19511103	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:19511103	nvar	1
chr22:19511103	var	chr22:19511103:C/T
chr22:19511476	allele_ref	G
chr22:19511476	allele_alt	A
chr22:19511476	seqdb_ref	G
chr22:19511476	snp_fw_seq3	CGC/CAC
chr22:19511476	snp_rv_seq3	GCG/GTG
chr22:19511476	func	silent,silent
chr22:19511476	transcript	NM_001130861,NM_003277
chr22:19511476	genomic	.,.
chr22:19511476	codon	.,.
chr22:19511476	protein	.,.
chr22:19511476	worst	silent
chr22:19511476	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19511476	nvar	1
chr22:19511476	var	chr22:19511476:G/A
chr22:19702274	allele_ref	C
chr22:19702274	allele_alt	T
chr22:19702274	seqdb_ref	c
chr22:19702274	snp_fw_seq3	ccc/cTc
chr22:19702274	snp_rv_seq3	ggg/gAg
chr22:19702274	func	intronic
chr22:19702274	transcript	NM_002688
chr22:19702274	genomic	.
chr22:19702274	codon	.
chr22:19702274	protein	.
chr22:19702274	worst	intronic
chr22:19702274	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19702274	nvar	1
chr22:19702274	var	chr22:19702274:C/T
chr22:19707112	allele_ref	A
chr22:19707112	allele_alt	G
chr22:19707112	seqdb_ref	A
chr22:19707112	snp_fw_seq3	CAT/CGT
chr22:19707112	snp_rv_seq3	ATG/ACG
chr22:19707112	func	intronic,intronic,intronic,intronic
chr22:19707112	transcript	NM_001009939,NM_002688,NR_037611,NR_037612
chr22:19707112	genomic	.,.,.,.
chr22:19707112	codon	.,.,.,.
chr22:19707112	protein	.,.,.,.
chr22:19707112	worst	intronic
chr22:19707112	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19707112	nvar	1
chr22:19707112	var	chr22:19707112:A/G
chr22:19707622	allele_ref	G
chr22:19707622	allele_alt	A
chr22:19707622	seqdb_ref	G
chr22:19707622	snp_fw_seq3	TGG/TAG
chr22:19707622	snp_rv_seq3	CCA/CTA
chr22:19707622	func	intronic,intronic,intronic,intronic
chr22:19707622	transcript	NM_001009939,NM_002688,NR_037611,NR_037612
chr22:19707622	genomic	.,.,.,.
chr22:19707622	codon	.,.,.,.
chr22:19707622	protein	.,.,.,.
chr22:19707622	worst	intronic
chr22:19707622	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19707622	nvar	1
chr22:19707622	var	chr22:19707622:G/A
chr22:19750845	allele_ref	G
chr22:19750845	allele_alt	A
chr22:19750845	seqdb_ref	G
chr22:19750845	snp_fw_seq3	CGG/CAG
chr22:19750845	snp_rv_seq3	CCG/CTG
chr22:19750845	func	silent,silent,silent
chr22:19750845	transcript	NM_005992,NM_080646,NM_080647
chr22:19750845	genomic	.,.,.
chr22:19750845	codon	.,.,.
chr22:19750845	protein	.,.,.
chr22:19750845	worst	silent
chr22:19750845	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19750845	nvar	1
chr22:19750845	var	chr22:19750845:G/A
chr22:19751829	allele_ref	C
chr22:19751829	allele_alt	T
chr22:19751829	seqdb_ref	C
chr22:19751829	snp_fw_seq3	CCT/CTT
chr22:19751829	snp_rv_seq3	AGG/AAG
chr22:19751829	func	silent,silent,silent
chr22:19751829	transcript	NM_005992,NM_080646,NM_080647
chr22:19751829	genomic	.,.,.
chr22:19751829	codon	.,.,.
chr22:19751829	protein	.,.,.
chr22:19751829	worst	silent
chr22:19751829	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19751829	nvar	1
chr22:19751829	var	chr22:19751829:C/T
chr22:19751892	allele_ref	C
chr22:19751892	allele_alt	T
chr22:19751892	seqdb_ref	C
chr22:19751892	snp_fw_seq3	TCG/TTG
chr22:19751892	snp_rv_seq3	CGA/CAA
chr22:19751892	func	intronic,intronic,intronic
chr22:19751892	transcript	NM_005992,NM_080646,NM_080647
chr22:19751892	genomic	.,.,.
chr22:19751892	codon	.,.,.
chr22:19751892	protein	.,.,.
chr22:19751892	worst	intronic
chr22:19751892	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19751892	nvar	1
chr22:19751892	var	chr22:19751892:C/T
chr22:19753379	allele_ref	C
chr22:19753379	allele_alt	T
chr22:19753379	seqdb_ref	C
chr22:19753379	snp_fw_seq3	CCG/CTG
chr22:19753379	snp_rv_seq3	CGG/CAG
chr22:19753379	func	intronic,intronic,intronic
chr22:19753379	transcript	NM_005992,NM_080646,NM_080647
chr22:19753379	genomic	.,.,.
chr22:19753379	codon	.,.,.
chr22:19753379	protein	.,.,.
chr22:19753379	worst	intronic
chr22:19753379	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19753379	nvar	1
chr22:19753379	var	chr22:19753379:C/T
chr22:19766782	allele_ref	C
chr22:19766782	allele_alt	T
chr22:19766782	seqdb_ref	C
chr22:19766782	snp_fw_seq3	ACG/ATG
chr22:19766782	snp_rv_seq3	CGT/CAT
chr22:19766782	func	intronic,missense
chr22:19766782	transcript	NM_005992,NM_080646
chr22:19766782	genomic	.,g.1049C>T
chr22:19766782	codon	.,c.1049ACG>ATG
chr22:19766782	protein	.,p.350T>M
chr22:19766782	worst	missense
chr22:19766782	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19766782	nvar	1
chr22:19766782	var	chr22:19766782:C/T
chr22:19766797	allele_ref	C
chr22:19766797	allele_alt	G
chr22:19766797	seqdb_ref	C
chr22:19766797	snp_fw_seq3	CCA/CGA
chr22:19766797	snp_rv_seq3	TGG/TCG
chr22:19766797	func	intronic,missense
chr22:19766797	transcript	NM_005992,NM_080646
chr22:19766797	genomic	.,g.1064C>G
chr22:19766797	codon	.,c.1064CCA>CGA
chr22:19766797	protein	.,p.355P>R
chr22:19766797	worst	missense
chr22:19766797	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19766797	nvar	1
chr22:19766797	var	chr22:19766797:C/G
chr22:19776382	allele_ref	G
chr22:19776382	allele_alt	A
chr22:19776382	seqdb_ref	G
chr22:19776382	snp_fw_seq3	CGC/CAC
chr22:19776382	snp_rv_seq3	GCG/GTG
chr22:19776382	func	silent
chr22:19776382	transcript	NM_053004
chr22:19776382	genomic	.
chr22:19776382	codon	.
chr22:19776382	protein	.
chr22:19776382	worst	silent
chr22:19776382	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19776382	nvar	1
chr22:19776382	var	chr22:19776382:G/A
chr22:19789541	allele_ref	A
chr22:19789541	allele_alt	C
chr22:19789541	seqdb_ref	A
chr22:19789541	snp_fw_seq3	CAG/CCG
chr22:19789541	snp_rv_seq3	CTG/CGG
chr22:19789541	func	missense
chr22:19789541	transcript	NM_053004
chr22:19789541	genomic	g.715A>C
chr22:19789541	codon	c.715TGG>GGG
chr22:19789541	protein	p.239W>G
chr22:19789541	worst	missense
chr22:19789541	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19789541	nvar	1
chr22:19789541	var	chr22:19789541:A/C
chr22:19799859	allele_ref	G
chr22:19799859	allele_alt	C
chr22:19799859	seqdb_ref	G
chr22:19799859	snp_fw_seq3	CGG/CCG
chr22:19799859	snp_rv_seq3	CCG/CGG
chr22:19799859	func	silent
chr22:19799859	transcript	NM_053004
chr22:19799859	genomic	.
chr22:19799859	codon	.
chr22:19799859	protein	.
chr22:19799859	worst	silent
chr22:19799859	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19799859	nvar	1
chr22:19799859	var	chr22:19799859:G/C
chr22:19799963	allele_ref	G
chr22:19799963	allele_alt	A
chr22:19799963	seqdb_ref	G
chr22:19799963	snp_fw_seq3	CGG/CAG
chr22:19799963	snp_rv_seq3	CCG/CTG
chr22:19799963	func	missense
chr22:19799963	transcript	NM_053004
chr22:19799963	genomic	g.262G>A
chr22:19799963	codon	c.262CGG>TGG
chr22:19799963	protein	p.88R>W
chr22:19799963	worst	missense
chr22:19799963	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19799963	nvar	1
chr22:19799963	var	chr22:19799963:G/A
chr22:19808769	allele_ref	C
chr22:19808769	allele_alt	T
chr22:19808769	seqdb_ref	C
chr22:19808769	snp_fw_seq3	GCG/GTG
chr22:19808769	snp_rv_seq3	CGC/CAC
chr22:19808769	func	missense
chr22:19808769	transcript	NM_053004
chr22:19808769	genomic	g.110C>T
chr22:19808769	codon	c.110CGC>CAC
chr22:19808769	protein	p.37R>H
chr22:19808769	worst	missense
chr22:19808769	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19808769	nvar	1
chr22:19808769	var	chr22:19808769:C/T
chr22:19808791	allele_ref	C
chr22:19808791	allele_alt	T
chr22:19808791	seqdb_ref	C
chr22:19808791	snp_fw_seq3	TCG/TTG
chr22:19808791	snp_rv_seq3	CGA/CAA
chr22:19808791	func	missense
chr22:19808791	transcript	NM_053004
chr22:19808791	genomic	g.88C>T
chr22:19808791	codon	c.88GAA>AAA
chr22:19808791	protein	p.30E>K
chr22:19808791	worst	missense
chr22:19808791	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19808791	nvar	1
chr22:19808791	var	chr22:19808791:C/T
chr22:19808859	allele_ref	G
chr22:19808859	allele_alt	C
chr22:19808859	seqdb_ref	G
chr22:19808859	snp_fw_seq3	CGG/CCG
chr22:19808859	snp_rv_seq3	CCG/CGG
chr22:19808859	func	missense
chr22:19808859	transcript	NM_053004
chr22:19808859	genomic	g.20G>C
chr22:19808859	codon	c.20CCG>CGG
chr22:19808859	protein	p.7P>R
chr22:19808859	worst	missense
chr22:19808859	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19808859	nvar	1
chr22:19808859	var	chr22:19808859:G/C
chr22:19838729	allele_ref	C
chr22:19838729	allele_alt	T
chr22:19838729	seqdb_ref	C
chr22:19838729	snp_fw_seq3	CCG/CTG
chr22:19838729	snp_rv_seq3	CGG/CAG
chr22:19838729	func	silent,intronic
chr22:19838729	transcript	NM_024627,NM_053004
chr22:19838729	genomic	.,.
chr22:19838729	codon	.,.
chr22:19838729	protein	.,.
chr22:19838729	worst	silent
chr22:19838729	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19838729	nvar	1
chr22:19838729	var	chr22:19838729:C/T
chr22:19838873	allele_ref	C
chr22:19838873	allele_alt	T
chr22:19838873	seqdb_ref	C
chr22:19838873	snp_fw_seq3	CCG/CTG
chr22:19838873	snp_rv_seq3	CGG/CAG
chr22:19838873	func	silent,intronic
chr22:19838873	transcript	NM_024627,NM_053004
chr22:19838873	genomic	.,.
chr22:19838873	codon	.,.
chr22:19838873	protein	.,.
chr22:19838873	worst	silent
chr22:19838873	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19838873	nvar	1
chr22:19838873	var	chr22:19838873:C/T
chr22:19838891	allele_ref	T
chr22:19838891	allele_alt	A
chr22:19838891	seqdb_ref	T
chr22:19838891	snp_fw_seq3	GTG/GAG
chr22:19838891	snp_rv_seq3	CAC/CTC
chr22:19838891	func	silent,intronic
chr22:19838891	transcript	NM_024627,NM_053004
chr22:19838891	genomic	.,.
chr22:19838891	codon	.,.
chr22:19838891	protein	.,.
chr22:19838891	worst	silent
chr22:19838891	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19838891	nvar	1
chr22:19838891	var	chr22:19838891:T/A
chr22:19839019	allele_ref	C
chr22:19839019	allele_alt	T
chr22:19839019	seqdb_ref	C
chr22:19839019	snp_fw_seq3	TCG/TTG
chr22:19839019	snp_rv_seq3	CGA/CAA
chr22:19839019	func	missense,intronic
chr22:19839019	transcript	NM_024627,NM_053004
chr22:19839019	genomic	g.766C>T,.
chr22:19839019	codon	c.766GAG>AAG,.
chr22:19839019	protein	p.256E>K,.
chr22:19839019	worst	missense
chr22:19839019	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19839019	nvar	1
chr22:19839019	var	chr22:19839019:C/T
chr22:19839351	allele_ref	C
chr22:19839351	allele_alt	T
chr22:19839351	seqdb_ref	C
chr22:19839351	snp_fw_seq3	GCG/GTG
chr22:19839351	snp_rv_seq3	CGC/CAC
chr22:19839351	func	missense,intronic
chr22:19839351	transcript	NM_024627,NM_053004
chr22:19839351	genomic	g.434C>T,.
chr22:19839351	codon	c.434CGC>CAC,.
chr22:19839351	protein	p.145R>H,.
chr22:19839351	worst	missense
chr22:19839351	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19839351	nvar	1
chr22:19839351	var	chr22:19839351:C/T
chr22:19839418	allele_ref	C
chr22:19839418	allele_alt	A
chr22:19839418	seqdb_ref	C
chr22:19839418	snp_fw_seq3	TCG/TAG
chr22:19839418	snp_rv_seq3	CGA/CTA
chr22:19839418	func	missense,intronic
chr22:19839418	transcript	NM_024627,NM_053004
chr22:19839418	genomic	g.367C>A,.
chr22:19839418	codon	c.367GAT>TAT,.
chr22:19839418	protein	p.123D>Y,.
chr22:19839418	worst	missense
chr22:19839418	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19839418	nvar	1
chr22:19839418	var	chr22:19839418:C/A
chr22:19839438	allele_ref	C
chr22:19839438	allele_alt	T
chr22:19839438	seqdb_ref	C
chr22:19839438	snp_fw_seq3	GCG/GTG
chr22:19839438	snp_rv_seq3	CGC/CAC
chr22:19839438	func	missense,intronic
chr22:19839438	transcript	NM_024627,NM_053004
chr22:19839438	genomic	g.347C>T,.
chr22:19839438	codon	c.347CGC>CAC,.
chr22:19839438	protein	p.116R>H,.
chr22:19839438	worst	missense
chr22:19839438	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19839438	nvar	1
chr22:19839438	var	chr22:19839438:C/T
chr22:19839727	allele_ref	T
chr22:19839727	allele_alt	A
chr22:19839727	seqdb_ref	T
chr22:19839727	snp_fw_seq3	TTG/TAG
chr22:19839727	snp_rv_seq3	CAA/CTA
chr22:19839727	func	missense,intronic
chr22:19839727	transcript	NM_024627,NM_053004
chr22:19839727	genomic	g.58T>A,.
chr22:19839727	codon	c.58AAT>TAT,.
chr22:19839727	protein	p.20N>Y,.
chr22:19839727	worst	missense
chr22:19839727	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19839727	nvar	1
chr22:19839727	var	chr22:19839727:T/A
chr22:19864649	allele_ref	C
chr22:19864649	allele_alt	T
chr22:19864649	seqdb_ref	C
chr22:19864649	snp_fw_seq3	CCG/CTG
chr22:19864649	snp_rv_seq3	CGG/CAG
chr22:19864649	func	silent
chr22:19864649	transcript	NM_006440
chr22:19864649	genomic	.
chr22:19864649	codon	.
chr22:19864649	protein	.
chr22:19864649	worst	silent
chr22:19864649	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19864649	nvar	1
chr22:19864649	var	chr22:19864649:C/T
chr22:19865869	allele_ref	T
chr22:19865869	allele_alt	C
chr22:19865869	seqdb_ref	T
chr22:19865869	snp_fw_seq3	CTG/CCG
chr22:19865869	snp_rv_seq3	CAG/CGG
chr22:19865869	func	intronic
chr22:19865869	transcript	NM_006440
chr22:19865869	genomic	.
chr22:19865869	codon	.
chr22:19865869	protein	.
chr22:19865869	worst	intronic
chr22:19865869	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19865869	nvar	1
chr22:19865869	var	chr22:19865869:T/C
chr22:19867744	allele_ref	G
chr22:19867744	allele_alt	A
chr22:19867744	seqdb_ref	G
chr22:19867744	snp_fw_seq3	CGG/CAG
chr22:19867744	snp_rv_seq3	CCG/CTG
chr22:19867744	func	silent
chr22:19867744	transcript	NM_006440
chr22:19867744	genomic	.
chr22:19867744	codon	.
chr22:19867744	protein	.
chr22:19867744	worst	silent
chr22:19867744	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19867744	nvar	1
chr22:19867744	var	chr22:19867744:G/A
chr22:19867771	allele_ref	C
chr22:19867771	allele_alt	T
chr22:19867771	seqdb_ref	C
chr22:19867771	snp_fw_seq3	GCG/GTG
chr22:19867771	snp_rv_seq3	CGC/CAC
chr22:19867771	func	silent
chr22:19867771	transcript	NM_006440
chr22:19867771	genomic	.
chr22:19867771	codon	.
chr22:19867771	protein	.
chr22:19867771	worst	silent
chr22:19867771	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19867771	nvar	1
chr22:19867771	var	chr22:19867771:C/T
chr22:19868096	allele_ref	G
chr22:19868096	allele_alt	A
chr22:19868096	seqdb_ref	G
chr22:19868096	snp_fw_seq3	CGA/CAA
chr22:19868096	snp_rv_seq3	TCG/TTG
chr22:19868096	func	intronic
chr22:19868096	transcript	NM_006440
chr22:19868096	genomic	.
chr22:19868096	codon	.
chr22:19868096	protein	.
chr22:19868096	worst	intronic
chr22:19868096	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19868096	nvar	1
chr22:19868096	var	chr22:19868096:G/A
chr22:19868218	allele_ref	A
chr22:19868218	allele_alt	G
chr22:19868218	seqdb_ref	A
chr22:19868218	snp_fw_seq3	TAT/TGT
chr22:19868218	snp_rv_seq3	ATA/ACA
chr22:19868218	func	missense
chr22:19868218	transcript	NM_006440
chr22:19868218	genomic	g.1109A>G
chr22:19868218	codon	c.1109ATA>ACA
chr22:19868218	protein	p.370I>T
chr22:19868218	worst	missense
chr22:19868218	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19868218	nvar	1
chr22:19868218	var	chr22:19868218:A/G
chr22:19868228	allele_ref	G
chr22:19868228	allele_alt	A
chr22:19868228	seqdb_ref	G
chr22:19868228	snp_fw_seq3	AGC/AAC
chr22:19868228	snp_rv_seq3	GCT/GTT
chr22:19868228	func	silent
chr22:19868228	transcript	NM_006440
chr22:19868228	genomic	.
chr22:19868228	codon	.
chr22:19868228	protein	.
chr22:19868228	worst	silent
chr22:19868228	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19868228	nvar	1
chr22:19868228	var	chr22:19868228:G/A
chr22:19870831	allele_ref	C
chr22:19870831	allele_alt	T
chr22:19870831	seqdb_ref	C
chr22:19870831	snp_fw_seq3	CCG/CTG
chr22:19870831	snp_rv_seq3	CGG/CAG
chr22:19870831	func	intronic
chr22:19870831	transcript	NM_006440
chr22:19870831	genomic	.
chr22:19870831	codon	.
chr22:19870831	protein	.
chr22:19870831	worst	intronic
chr22:19870831	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19870831	nvar	1
chr22:19870831	var	chr22:19870831:C/T
chr22:19882888	allele_ref	G
chr22:19882888	allele_alt	A
chr22:19882888	seqdb_ref	G
chr22:19882888	snp_fw_seq3	CGG/CAG
chr22:19882888	snp_rv_seq3	CCG/CTG
chr22:19882888	func	intronic
chr22:19882888	transcript	NM_006440
chr22:19882888	genomic	.
chr22:19882888	codon	.
chr22:19882888	protein	.
chr22:19882888	worst	intronic
chr22:19882888	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19882888	nvar	1
chr22:19882888	var	chr22:19882888:G/A
chr22:19882984	allele_ref	T
chr22:19882984	allele_alt	G
chr22:19882984	seqdb_ref	T
chr22:19882984	snp_fw_seq3	CTG/CGG
chr22:19882984	snp_rv_seq3	CAG/CCG
chr22:19882984	func	missense
chr22:19882984	transcript	NM_006440
chr22:19882984	genomic	g.895T>G
chr22:19882984	codon	c.895AGC>CGC
chr22:19882984	protein	p.299S>R
chr22:19882984	worst	missense
chr22:19882984	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19882984	nvar	1
chr22:19882984	var	chr22:19882984:T/G
chr22:19885548	allele_ref	G
chr22:19885548	allele_alt	T
chr22:19885548	seqdb_ref	G
chr22:19885548	snp_fw_seq3	GGC/GTC
chr22:19885548	snp_rv_seq3	GCC/GAC
chr22:19885548	func	intronic
chr22:19885548	transcript	NM_006440
chr22:19885548	genomic	.
chr22:19885548	codon	.
chr22:19885548	protein	.
chr22:19885548	worst	intronic
chr22:19885548	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19885548	nvar	1
chr22:19885548	var	chr22:19885548:G/T
chr22:19898886	allele_ref	C
chr22:19898886	allele_alt	T
chr22:19898886	seqdb_ref	C
chr22:19898886	snp_fw_seq3	ACG/ATG
chr22:19898886	snp_rv_seq3	CGT/CAT
chr22:19898886	func	intronic
chr22:19898886	transcript	NM_006440
chr22:19898886	genomic	.
chr22:19898886	codon	.
chr22:19898886	protein	.
chr22:19898886	worst	intronic
chr22:19898886	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19898886	nvar	1
chr22:19898886	var	chr22:19898886:C/T
chr22:19898887	allele_ref	G
chr22:19898887	allele_alt	A
chr22:19898887	seqdb_ref	G
chr22:19898887	snp_fw_seq3	CGC/CAC
chr22:19898887	snp_rv_seq3	GCG/GTG
chr22:19898887	func	intronic
chr22:19898887	transcript	NM_006440
chr22:19898887	genomic	.
chr22:19898887	codon	.
chr22:19898887	protein	.
chr22:19898887	worst	intronic
chr22:19898887	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19898887	nvar	1
chr22:19898887	var	chr22:19898887:G/A
chr22:19902805	allele_ref	G
chr22:19902805	allele_alt	A
chr22:19902805	seqdb_ref	G
chr22:19902805	snp_fw_seq3	GGA/GAA
chr22:19902805	snp_rv_seq3	TCC/TTC
chr22:19902805	func	intronic
chr22:19902805	transcript	NM_006440
chr22:19902805	genomic	.
chr22:19902805	codon	.
chr22:19902805	protein	.
chr22:19902805	worst	intronic
chr22:19902805	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19902805	nvar	1
chr22:19902805	var	chr22:19902805:G/A
chr22:19902833	allele_ref	A
chr22:19902833	allele_alt	C
chr22:19902833	seqdb_ref	A
chr22:19902833	snp_fw_seq3	CAG/CCG
chr22:19902833	snp_rv_seq3	CTG/CGG
chr22:19902833	func	intronic
chr22:19902833	transcript	NM_006440
chr22:19902833	genomic	.
chr22:19902833	codon	.
chr22:19902833	protein	.
chr22:19902833	worst	intronic
chr22:19902833	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19902833	nvar	1
chr22:19902833	var	chr22:19902833:A/C
chr22:19903290	allele_ref	C
chr22:19903290	allele_alt	G
chr22:19903290	seqdb_ref	C
chr22:19903290	snp_fw_seq3	TCT/TGT
chr22:19903290	snp_rv_seq3	AGA/ACA
chr22:19903290	func	splice,missense
chr22:19903290	annot_details	DIST=-2,NMD=0,OFPTV=1,EXIN=6,ISEQ=CGAGTG,ESEQ=GAGAAA,SPLICE_TYPE=donor,ALT=C,HGVS=c.IVS6+-2G>C
chr22:19903290	transcript	NM_006440,NM_006440
chr22:19903290	genomic	.,g.526C>G
chr22:19903290	codon	.,c.526GAG>CAG
chr22:19903290	protein	.,p.176E>Q
chr22:19903290	worst	missense
chr22:19903290	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19903290	nvar	1
chr22:19903290	var	chr22:19903290:C/G
chr22:19905759	allele_ref	A
chr22:19905759	allele_alt	C
chr22:19905759	seqdb_ref	A
chr22:19905759	snp_fw_seq3	AAA/ACA
chr22:19905759	snp_rv_seq3	TTT/TGT
chr22:19905759	func	intronic
chr22:19905759	transcript	NM_006440
chr22:19905759	genomic	.
chr22:19905759	codon	.
chr22:19905759	protein	.
chr22:19905759	worst	intronic
chr22:19905759	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19905759	nvar	1
chr22:19905759	var	chr22:19905759:A/C
chr22:19905781	allele_ref	G
chr22:19905781	allele_alt	C
chr22:19905781	seqdb_ref	G
chr22:19905781	snp_fw_seq3	GGT/GCT
chr22:19905781	snp_rv_seq3	ACC/AGC
chr22:19905781	func	intronic
chr22:19905781	transcript	NM_006440
chr22:19905781	genomic	.
chr22:19905781	codon	.
chr22:19905781	protein	.
chr22:19905781	worst	intronic
chr22:19905781	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19905781	nvar	1
chr22:19905781	var	chr22:19905781:G/C
chr22:19906511	allele_ref	G
chr22:19906511	allele_alt	A
chr22:19906511	seqdb_ref	G
chr22:19906511	snp_fw_seq3	CGA/CAA
chr22:19906511	snp_rv_seq3	TCG/TTG
chr22:19906511	func	silent
chr22:19906511	transcript	NM_006440
chr22:19906511	genomic	.
chr22:19906511	codon	.
chr22:19906511	protein	.
chr22:19906511	worst	silent
chr22:19906511	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19906511	nvar	1
chr22:19906511	var	chr22:19906511:G/A
chr22:19907099	allele_ref	C
chr22:19907099	allele_alt	A
chr22:19907099	seqdb_ref	C
chr22:19907099	snp_fw_seq3	GCC/GAC
chr22:19907099	snp_rv_seq3	GGC/GTC
chr22:19907099	func	missense
chr22:19907099	transcript	NM_006440
chr22:19907099	genomic	g.196C>A
chr22:19907099	codon	c.196GCC>TCC
chr22:19907099	protein	p.66A>S
chr22:19907099	worst	missense
chr22:19907099	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19907099	nvar	1
chr22:19907099	var	chr22:19907099:C/A
chr22:19907118	allele_ref	G
chr22:19907118	allele_alt	A
chr22:19907118	seqdb_ref	G
chr22:19907118	snp_fw_seq3	GGG/GAG
chr22:19907118	snp_rv_seq3	CCC/CTC
chr22:19907118	func	silent,splice
chr22:19907118	annot_details	DIST=-4,NMD=0,OFPTV=1,EXIN=3,ISEQ=GACCTT,ESEQ=CCCGCC,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS3+-4C>T
chr22:19907118	transcript	NM_006440,NM_006440
chr22:19907118	genomic	.,.
chr22:19907118	codon	.,.
chr22:19907118	protein	.,.
chr22:19907118	worst	splice
chr22:19907118	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19907118	nvar	1
chr22:19907118	var	chr22:19907118:G/A
chr22:19950040	allele_ref	C
chr22:19950040	allele_alt	T
chr22:19950040	seqdb_ref	C
chr22:19950040	snp_fw_seq3	CCG/CTG
chr22:19950040	snp_rv_seq3	CGG/CAG
chr22:19950040	func	intronic,intronic,intronic
chr22:19950040	transcript	NM_000754,NM_001135161,NM_001135162
chr22:19950040	genomic	.,.,.
chr22:19950040	codon	.,.,.
chr22:19950040	protein	.,.,.
chr22:19950040	worst	intronic
chr22:19950040	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19950040	nvar	1
chr22:19950040	var	chr22:19950040:C/T
chr22:19950235	allele_ref	C
chr22:19950235	allele_alt	T
chr22:19950235	seqdb_ref	C
chr22:19950235	snp_fw_seq3	ACG/ATG
chr22:19950235	snp_rv_seq3	CGT/CAT
chr22:19950235	func	silent,silent,silent,silent
chr22:19950235	transcript	NM_000754,NM_001135161,NM_001135162,NM_007310
chr22:19950235	genomic	.,.,.,.
chr22:19950235	codon	.,.,.,.
chr22:19950235	protein	.,.,.,.
chr22:19950235	worst	silent
chr22:19950235	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19950235	nvar	1
chr22:19950235	var	chr22:19950235:C/T
chr22:19950268	allele_ref	G
chr22:19950268	allele_alt	A
chr22:19950268	seqdb_ref	G
chr22:19950268	snp_fw_seq3	AGA/AAA
chr22:19950268	snp_rv_seq3	TCT/TTT
chr22:19950268	func	silent,silent,silent,silent
chr22:19950268	transcript	NM_000754,NM_001135161,NM_001135162,NM_007310
chr22:19950268	genomic	.,.,.,.
chr22:19950268	codon	.,.,.,.
chr22:19950268	protein	.,.,.,.
chr22:19950268	worst	silent
chr22:19950268	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19950268	nvar	1
chr22:19950268	var	chr22:19950268:G/A
chr22:19951116	allele_ref	A
chr22:19951116	allele_alt	G
chr22:19951116	seqdb_ref	A
chr22:19951116	snp_fw_seq3	GAG/GGG
chr22:19951116	snp_rv_seq3	CTC/CCC
chr22:19951116	func	missense,missense,missense,missense
chr22:19951116	transcript	NM_000754,NM_001135161,NM_001135162,NM_007310
chr22:19951116	genomic	g.317A>G,g.317A>G,g.317A>G,g.167A>G
chr22:19951116	codon	c.317GAG>GGG,c.317GAG>GGG,c.317GAG>GGG,c.167GAG>GGG
chr22:19951116	protein	p.106E>G,p.106E>G,p.106E>G,p.56E>G
chr22:19951116	worst	missense
chr22:19951116	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19951116	nvar	1
chr22:19951116	var	chr22:19951116:A/G
chr22:19951207	allele_ref	C
chr22:19951207	allele_alt	G
chr22:19951207	seqdb_ref	C
chr22:19951207	snp_fw_seq3	TCA/TGA
chr22:19951207	snp_rv_seq3	TGA/TCA
chr22:19951207	func	silent,silent,silent,silent
chr22:19951207	transcript	NM_000754,NM_001135161,NM_001135162,NM_007310
chr22:19951207	genomic	.,.,.,.
chr22:19951207	codon	.,.,.,.
chr22:19951207	protein	.,.,.,.
chr22:19951207	worst	silent
chr22:19951207	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19951207	nvar	1
chr22:19951207	var	chr22:19951207:C/G
chr22:19951237	allele_ref	C
chr22:19951237	allele_alt	T
chr22:19951237	seqdb_ref	C
chr22:19951237	snp_fw_seq3	CCG/CTG
chr22:19951237	snp_rv_seq3	CGG/CAG
chr22:19951237	func	silent,silent,silent,silent
chr22:19951237	transcript	NM_000754,NM_001135161,NM_001135162,NM_007310
chr22:19951237	genomic	.,.,.,.
chr22:19951237	codon	.,.,.,.
chr22:19951237	protein	.,.,.,.
chr22:19951237	worst	silent
chr22:19951237	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19951237	nvar	1
chr22:19951237	var	chr22:19951237:C/T
chr22:19951271	allele_ref	G
chr22:19951271	allele_alt	A
chr22:19951271	seqdb_ref	G
chr22:19951271	snp_fw_seq3	CGT/CAT
chr22:19951271	snp_rv_seq3	ACG/ATG
chr22:19951271	func	missense,missense,missense,missense
chr22:19951271	transcript	NM_000754,NM_001135161,NM_001135162,NM_007310
chr22:19951271	genomic	g.472G>A,g.472G>A,g.472G>A,g.322G>A
chr22:19951271	codon	c.472GTG>ATG,c.472GTG>ATG,c.472GTG>ATG,c.322GTG>ATG
chr22:19951271	protein	p.158V>M,p.158V>M,p.158V>M,p.108V>M
chr22:19951271	worst	missense
chr22:19951271	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19951271	nvar	1
chr22:19951271	var	chr22:19951271:G/A
chr22:19951804	allele_ref	G
chr22:19951804	allele_alt	A
chr22:19951804	seqdb_ref	G
chr22:19951804	snp_fw_seq3	CGG/CAG
chr22:19951804	snp_rv_seq3	CCG/CTG
chr22:19951804	func	silent,silent,silent,silent
chr22:19951804	transcript	NM_000754,NM_001135161,NM_001135162,NM_007310
chr22:19951804	genomic	.,.,.,.
chr22:19951804	codon	.,.,.,.
chr22:19951804	protein	.,.,.,.
chr22:19951804	worst	silent
chr22:19951804	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19951804	nvar	1
chr22:19951804	var	chr22:19951804:G/A
chr22:19958710	allele_ref	T
chr22:19958710	allele_alt	A
chr22:19958710	seqdb_ref	T
chr22:19958710	snp_fw_seq3	GTG/GAG
chr22:19958710	snp_rv_seq3	CAC/CTC
chr22:19958710	func	intronic
chr22:19958710	transcript	NM_001670
chr22:19958710	genomic	.
chr22:19958710	codon	.
chr22:19958710	protein	.
chr22:19958710	worst	intronic
chr22:19958710	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19958710	nvar	1
chr22:19958710	var	chr22:19958710:T/A
chr22:19958829	allele_ref	G
chr22:19958829	allele_alt	A
chr22:19958829	seqdb_ref	G
chr22:19958829	snp_fw_seq3	CGG/CAG
chr22:19958829	snp_rv_seq3	CCG/CTG
chr22:19958829	func	silent
chr22:19958829	transcript	NM_001670
chr22:19958829	genomic	.
chr22:19958829	codon	.
chr22:19958829	protein	.
chr22:19958829	worst	silent
chr22:19958829	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19958829	nvar	1
chr22:19958829	var	chr22:19958829:G/A
chr22:19959366	allele_ref	G
chr22:19959366	allele_alt	A
chr22:19959366	seqdb_ref	G
chr22:19959366	snp_fw_seq3	CGG/CAG
chr22:19959366	snp_rv_seq3	CCG/CTG
chr22:19959366	func	intronic
chr22:19959366	transcript	NM_001670
chr22:19959366	genomic	.
chr22:19959366	codon	.
chr22:19959366	protein	.
chr22:19959366	worst	intronic
chr22:19959366	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19959366	nvar	1
chr22:19959366	var	chr22:19959366:G/A
chr22:19959456	allele_ref	G
chr22:19959456	allele_alt	A
chr22:19959456	seqdb_ref	G
chr22:19959456	snp_fw_seq3	CGT/CAT
chr22:19959456	snp_rv_seq3	ACG/ATG
chr22:19959456	func	missense
chr22:19959456	transcript	NM_001670
chr22:19959456	genomic	g.2734G>A
chr22:19959456	codon	c.2734CGG>TGG
chr22:19959456	protein	p.912R>W
chr22:19959456	worst	missense
chr22:19959456	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19959456	nvar	1
chr22:19959456	var	chr22:19959456:G/A
chr22:19959464	allele_ref	C
chr22:19959464	allele_alt	T
chr22:19959464	seqdb_ref	C
chr22:19959464	snp_fw_seq3	CCG/CTG
chr22:19959464	snp_rv_seq3	CGG/CAG
chr22:19959464	func	missense
chr22:19959464	transcript	NM_001670
chr22:19959464	genomic	g.2726C>T
chr22:19959464	codon	c.2726CGG>CAG
chr22:19959464	protein	p.909R>Q
chr22:19959464	worst	missense
chr22:19959464	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19959464	nvar	1
chr22:19959464	var	chr22:19959464:C/T
chr22:19959473	allele_ref	C
chr22:19959473	allele_alt	T
chr22:19959473	seqdb_ref	C
chr22:19959473	snp_fw_seq3	CCG/CTG
chr22:19959473	snp_rv_seq3	CGG/CAG
chr22:19959473	func	missense
chr22:19959473	transcript	NM_001670
chr22:19959473	genomic	g.2717C>T
chr22:19959473	codon	c.2717CGG>CAG
chr22:19959473	protein	p.906R>Q
chr22:19959473	worst	missense
chr22:19959473	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19959473	nvar	1
chr22:19959473	var	chr22:19959473:C/T
chr22:19959955	allele_ref	A
chr22:19959955	allele_alt	G
chr22:19959955	seqdb_ref	A
chr22:19959955	snp_fw_seq3	GAC/GGC
chr22:19959955	snp_rv_seq3	GTC/GCC
chr22:19959955	func	intronic
chr22:19959955	transcript	NM_001670
chr22:19959955	genomic	.
chr22:19959955	codon	.
chr22:19959955	protein	.
chr22:19959955	worst	intronic
chr22:19959955	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19959955	nvar	1
chr22:19959955	var	chr22:19959955:A/G
chr22:19960238	allele_ref	C
chr22:19960238	allele_alt	T
chr22:19960238	seqdb_ref	C
chr22:19960238	snp_fw_seq3	GCT/GTT
chr22:19960238	snp_rv_seq3	AGC/AAC
chr22:19960238	func	intronic
chr22:19960238	transcript	NM_001670
chr22:19960238	genomic	.
chr22:19960238	codon	.
chr22:19960238	protein	.
chr22:19960238	worst	intronic
chr22:19960238	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19960238	nvar	1
chr22:19960238	var	chr22:19960238:C/T
chr22:19960394	allele_ref	G
chr22:19960394	allele_alt	A
chr22:19960394	seqdb_ref	G
chr22:19960394	snp_fw_seq3	AGT/AAT
chr22:19960394	snp_rv_seq3	ACT/ATT
chr22:19960394	func	intronic
chr22:19960394	transcript	NM_001670
chr22:19960394	genomic	.
chr22:19960394	codon	.
chr22:19960394	protein	.
chr22:19960394	worst	intronic
chr22:19960394	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19960394	nvar	1
chr22:19960394	var	chr22:19960394:G/A
chr22:19960421	allele_ref	A
chr22:19960421	allele_alt	G
chr22:19960421	seqdb_ref	A
chr22:19960421	snp_fw_seq3	AAT/AGT
chr22:19960421	snp_rv_seq3	ATT/ACT
chr22:19960421	func	intronic
chr22:19960421	transcript	NM_001670
chr22:19960421	genomic	.
chr22:19960421	codon	.
chr22:19960421	protein	.
chr22:19960421	worst	intronic
chr22:19960421	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19960421	nvar	1
chr22:19960421	var	chr22:19960421:A/G
chr22:19960485	allele_ref	G
chr22:19960485	allele_alt	C
chr22:19960485	seqdb_ref	G
chr22:19960485	snp_fw_seq3	GGT/GCT
chr22:19960485	snp_rv_seq3	ACC/AGC
chr22:19960485	func	missense
chr22:19960485	transcript	NM_001670
chr22:19960485	genomic	g.2513G>C
chr22:19960485	codon	c.2513ACC>AGC
chr22:19960485	protein	p.838T>S
chr22:19960485	worst	missense
chr22:19960485	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19960485	nvar	1
chr22:19960485	var	chr22:19960485:G/C
chr22:19960499	allele_ref	C
chr22:19960499	allele_alt	T
chr22:19960499	seqdb_ref	C
chr22:19960499	snp_fw_seq3	CCT/CTT
chr22:19960499	snp_rv_seq3	AGG/AAG
chr22:19960499	func	silent
chr22:19960499	transcript	NM_001670
chr22:19960499	genomic	.
chr22:19960499	codon	.
chr22:19960499	protein	.
chr22:19960499	worst	silent
chr22:19960499	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19960499	nvar	1
chr22:19960499	var	chr22:19960499:C/T
chr22:19960606	allele_ref	G
chr22:19960606	allele_alt	C
chr22:19960606	seqdb_ref	G
chr22:19960606	snp_fw_seq3	CGC/CCC
chr22:19960606	snp_rv_seq3	GCG/GGG
chr22:19960606	func	intronic
chr22:19960606	transcript	NM_001670
chr22:19960606	genomic	.
chr22:19960606	codon	.
chr22:19960606	protein	.
chr22:19960606	worst	intronic
chr22:19960606	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19960606	nvar	1
chr22:19960606	var	chr22:19960606:G/C
chr22:19960666	allele_ref	G
chr22:19960666	allele_alt	A
chr22:19960666	seqdb_ref	G
chr22:19960666	snp_fw_seq3	CGC/CAC
chr22:19960666	snp_rv_seq3	GCG/GTG
chr22:19960666	func	missense
chr22:19960666	transcript	NM_001670
chr22:19960666	genomic	g.2414G>A
chr22:19960666	codon	c.2414GCG>GTG
chr22:19960666	protein	p.805A>V
chr22:19960666	worst	missense
chr22:19960666	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19960666	nvar	1
chr22:19960666	var	chr22:19960666:G/A
chr22:19964925	allele_ref	C
chr22:19964925	allele_alt	T
chr22:19964925	seqdb_ref	C
chr22:19964925	snp_fw_seq3	TCC/TTC
chr22:19964925	snp_rv_seq3	GGA/GAA
chr22:19964925	func	intronic
chr22:19964925	transcript	NM_001670
chr22:19964925	genomic	.
chr22:19964925	codon	.
chr22:19964925	protein	.
chr22:19964925	worst	intronic
chr22:19964925	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19964925	nvar	1
chr22:19964925	var	chr22:19964925:C/T
chr22:19966562	allele_ref	C
chr22:19966562	allele_alt	T
chr22:19966562	seqdb_ref	C
chr22:19966562	snp_fw_seq3	ACC/ATC
chr22:19966562	snp_rv_seq3	GGT/GAT
chr22:19966562	func	missense
chr22:19966562	transcript	NM_001670
chr22:19966562	genomic	g.1438C>T
chr22:19966562	codon	c.1438GTC>ATC
chr22:19966562	protein	p.480V>I
chr22:19966562	worst	missense
chr22:19966562	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19966562	nvar	1
chr22:19966562	var	chr22:19966562:C/T
chr22:19966610	allele_ref	G
chr22:19966610	allele_alt	A
chr22:19966610	seqdb_ref	G
chr22:19966610	snp_fw_seq3	GGG/GAG
chr22:19966610	snp_rv_seq3	CCC/CTC
chr22:19966610	func	intronic
chr22:19966610	transcript	NM_001670
chr22:19966610	genomic	.
chr22:19966610	codon	.
chr22:19966610	protein	.
chr22:19966610	worst	intronic
chr22:19966610	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19966610	nvar	1
chr22:19966610	var	chr22:19966610:G/A
chr22:19967226	allele_ref	C
chr22:19967226	allele_alt	T
chr22:19967226	seqdb_ref	C
chr22:19967226	snp_fw_seq3	TCT/TTT
chr22:19967226	snp_rv_seq3	AGA/AAA
chr22:19967226	func	intronic
chr22:19967226	transcript	NM_001670
chr22:19967226	genomic	.
chr22:19967226	codon	.
chr22:19967226	protein	.
chr22:19967226	worst	intronic
chr22:19967226	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19967226	nvar	1
chr22:19967226	var	chr22:19967226:C/T
chr22:19967248	allele_ref	T
chr22:19967248	allele_alt	C
chr22:19967248	seqdb_ref	T
chr22:19967248	snp_fw_seq3	ATG/ACG
chr22:19967248	snp_rv_seq3	CAT/CGT
chr22:19967248	func	intronic
chr22:19967248	transcript	NM_001670
chr22:19967248	genomic	.
chr22:19967248	codon	.
chr22:19967248	protein	.
chr22:19967248	worst	intronic
chr22:19967248	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19967248	nvar	1
chr22:19967248	var	chr22:19967248:T/C
chr22:19967543	allele_ref	G
chr22:19967543	allele_alt	A
chr22:19967543	seqdb_ref	G
chr22:19967543	snp_fw_seq3	CGG/CAG
chr22:19967543	snp_rv_seq3	CCG/CTG
chr22:19967543	func	silent
chr22:19967543	transcript	NM_001670
chr22:19967543	genomic	.
chr22:19967543	codon	.
chr22:19967543	protein	.
chr22:19967543	worst	silent
chr22:19967543	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19967543	nvar	1
chr22:19967543	var	chr22:19967543:G/A
chr22:19967808	allele_ref	G
chr22:19967808	allele_alt	T
chr22:19967808	seqdb_ref	G
chr22:19967808	snp_fw_seq3	CGC/CTC
chr22:19967808	snp_rv_seq3	GCG/GAG
chr22:19967808	func	intronic
chr22:19967808	transcript	NM_001670
chr22:19967808	genomic	.
chr22:19967808	codon	.
chr22:19967808	protein	.
chr22:19967808	worst	intronic
chr22:19967808	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19967808	nvar	1
chr22:19967808	var	chr22:19967808:G/T
chr22:19968719	allele_ref	C
chr22:19968719	allele_alt	T
chr22:19968719	seqdb_ref	C
chr22:19968719	snp_fw_seq3	ACG/ATG
chr22:19968719	snp_rv_seq3	CGT/CAT
chr22:19968719	func	intronic
chr22:19968719	transcript	NM_001670
chr22:19968719	genomic	.
chr22:19968719	codon	.
chr22:19968719	protein	.
chr22:19968719	worst	intronic
chr22:19968719	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19968719	nvar	1
chr22:19968719	var	chr22:19968719:C/T
chr22:19968971	allele_ref	G
chr22:19968971	allele_alt	A
chr22:19968971	seqdb_ref	G
chr22:19968971	snp_fw_seq3	TGG/TAG
chr22:19968971	snp_rv_seq3	CCA/CTA
chr22:19968971	func	missense
chr22:19968971	transcript	NM_001670
chr22:19968971	genomic	g.659G>A
chr22:19968971	codon	c.659CCA>CTA
chr22:19968971	protein	p.220P>L
chr22:19968971	worst	missense
chr22:19968971	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19968971	nvar	1
chr22:19968971	var	chr22:19968971:G/A
chr22:19969075	allele_ref	A
chr22:19969075	allele_alt	G
chr22:19969075	seqdb_ref	A
chr22:19969075	snp_fw_seq3	CAC/CGC
chr22:19969075	snp_rv_seq3	GTG/GCG
chr22:19969075	func	silent
chr22:19969075	transcript	NM_001670
chr22:19969075	genomic	.
chr22:19969075	codon	.
chr22:19969075	protein	.
chr22:19969075	worst	silent
chr22:19969075	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19969075	nvar	1
chr22:19969075	var	chr22:19969075:A/G
chr22:19969106	allele_ref	A
chr22:19969106	allele_alt	G
chr22:19969106	seqdb_ref	A
chr22:19969106	snp_fw_seq3	CAC/CGC
chr22:19969106	snp_rv_seq3	GTG/GCG
chr22:19969106	func	missense
chr22:19969106	transcript	NM_001670
chr22:19969106	genomic	g.524A>G
chr22:19969106	codon	c.524GTG>GCG
chr22:19969106	protein	p.175V>A
chr22:19969106	worst	missense
chr22:19969106	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19969106	nvar	1
chr22:19969106	var	chr22:19969106:A/G
chr22:19969420	allele_ref	C
chr22:19969420	allele_alt	T
chr22:19969420	seqdb_ref	C
chr22:19969420	snp_fw_seq3	CCC/CTC
chr22:19969420	snp_rv_seq3	GGG/GAG
chr22:19969420	func	intronic
chr22:19969420	transcript	NM_001670
chr22:19969420	genomic	.
chr22:19969420	codon	.
chr22:19969420	protein	.
chr22:19969420	worst	intronic
chr22:19969420	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19969420	nvar	1
chr22:19969420	var	chr22:19969420:C/T
chr22:19969495	allele_ref	G
chr22:19969495	allele_alt	T
chr22:19969495	seqdb_ref	G
chr22:19969495	snp_fw_seq3	TGA/TTA
chr22:19969495	snp_rv_seq3	TCA/TAA
chr22:19969495	func	silent
chr22:19969495	transcript	NM_001670
chr22:19969495	genomic	.
chr22:19969495	codon	.
chr22:19969495	protein	.
chr22:19969495	worst	silent
chr22:19969495	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19969495	nvar	1
chr22:19969495	var	chr22:19969495:G/T
chr22:19978074	allele_ref	A
chr22:19978074	allele_alt	T
chr22:19978074	seqdb_ref	A
chr22:19978074	snp_fw_seq3	CAA/CTA
chr22:19978074	snp_rv_seq3	TTG/TAG
chr22:19978074	func	intronic
chr22:19978074	transcript	NM_001670
chr22:19978074	genomic	.
chr22:19978074	codon	.
chr22:19978074	protein	.
chr22:19978074	worst	intronic
chr22:19978074	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19978074	nvar	1
chr22:19978074	var	chr22:19978074:A/T
chr22:19978218	allele_ref	G
chr22:19978218	allele_alt	A
chr22:19978218	seqdb_ref	G
chr22:19978218	snp_fw_seq3	CGC/CAC
chr22:19978218	snp_rv_seq3	GCG/GTG
chr22:19978218	func	missense
chr22:19978218	transcript	NM_001670
chr22:19978218	genomic	g.100G>A
chr22:19978218	codon	c.100CGG>TGG
chr22:19978218	protein	p.34R>W
chr22:19978218	worst	missense
chr22:19978218	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:19978218	nvar	1
chr22:19978218	var	chr22:19978218:G/A
chr22:19978335	allele_ref	G
chr22:19978335	allele_alt	A
chr22:19978335	seqdb_ref	G
chr22:19978335	snp_fw_seq3	AGC/AAC
chr22:19978335	snp_rv_seq3	GCT/GTT
chr22:19978335	func	5-UTR,splice
chr22:19978335	annot_details	DIST=0,NMD=0,OFPTV=1,EXIN=3,ISEQ=GACGTC,ESEQ=GCGGTC,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS3+0C>T
chr22:19978335	transcript	NM_001670,NM_001670
chr22:19978335	genomic	.,.
chr22:19978335	codon	.,.
chr22:19978335	protein	.,.
chr22:19978335	worst	splice
chr22:19978335	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:19978335	nvar	1
chr22:19978335	var	chr22:19978335:G/A
chr22:20030980	allele_ref	C
chr22:20030980	allele_alt	T
chr22:20030980	seqdb_ref	C
chr22:20030980	snp_fw_seq3	GCG/GTG
chr22:20030980	snp_rv_seq3	CGC/CAC
chr22:20030980	func	intronic
chr22:20030980	transcript	NM_152906
chr22:20030980	genomic	.
chr22:20030980	codon	.
chr22:20030980	protein	.
chr22:20030980	worst	intronic
chr22:20030980	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20030980	nvar	1
chr22:20030980	var	chr22:20030980:C/T
chr22:20050883	allele_ref	G
chr22:20050883	allele_alt	A
chr22:20050883	seqdb_ref	G
chr22:20050883	snp_fw_seq3	CGA/CAA
chr22:20050883	snp_rv_seq3	TCG/TTG
chr22:20050883	func	missense
chr22:20050883	transcript	NM_152906
chr22:20050883	genomic	g.628G>A
chr22:20050883	codon	c.628GAG>AAG
chr22:20050883	protein	p.210E>K
chr22:20050883	worst	missense
chr22:20050883	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20050883	nvar	1
chr22:20050883	var	chr22:20050883:G/A
chr22:20050957	allele_ref	C
chr22:20050957	allele_alt	T
chr22:20050957	seqdb_ref	C
chr22:20050957	snp_fw_seq3	ACG/ATG
chr22:20050957	snp_rv_seq3	CGT/CAT
chr22:20050957	func	silent
chr22:20050957	transcript	NM_152906
chr22:20050957	genomic	.
chr22:20050957	codon	.
chr22:20050957	protein	.
chr22:20050957	worst	silent
chr22:20050957	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20050957	nvar	1
chr22:20050957	var	chr22:20050957:C/T
chr22:20050979	allele_ref	G
chr22:20050979	allele_alt	A
chr22:20050979	seqdb_ref	G
chr22:20050979	snp_fw_seq3	CGT/CAT
chr22:20050979	snp_rv_seq3	ACG/ATG
chr22:20050979	func	intronic
chr22:20050979	transcript	NM_152906
chr22:20050979	genomic	.
chr22:20050979	codon	.
chr22:20050979	protein	.
chr22:20050979	worst	intronic
chr22:20050979	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20050979	nvar	1
chr22:20050979	var	chr22:20050979:G/A
chr22:20052050	allele_ref	C
chr22:20052050	allele_alt	T
chr22:20052050	seqdb_ref	C
chr22:20052050	snp_fw_seq3	CCC/CTC
chr22:20052050	snp_rv_seq3	GGG/GAG
chr22:20052050	func	intronic
chr22:20052050	transcript	NM_152906
chr22:20052050	genomic	.
chr22:20052050	codon	.
chr22:20052050	protein	.
chr22:20052050	worst	intronic
chr22:20052050	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20052050	nvar	1
chr22:20052050	var	chr22:20052050:C/T
chr22:20052089	allele_ref	T
chr22:20052089	allele_alt	G
chr22:20052089	seqdb_ref	T
chr22:20052089	snp_fw_seq3	ATG/AGG
chr22:20052089	snp_rv_seq3	CAT/CCT
chr22:20052089	func	missense
chr22:20052089	transcript	NM_152906
chr22:20052089	genomic	g.735T>G
chr22:20052089	codon	c.735GAT>GAG
chr22:20052089	protein	p.245D>E
chr22:20052089	worst	missense
chr22:20052089	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20052089	nvar	1
chr22:20052089	var	chr22:20052089:T/G
chr22:20074699	allele_ref	C
chr22:20074699	allele_alt	T
chr22:20074699	seqdb_ref	C
chr22:20074699	snp_fw_seq3	ACG/ATG
chr22:20074699	snp_rv_seq3	CGT/CAT
chr22:20074699	func	silent,silent
chr22:20074699	transcript	NM_001190326,NM_022720
chr22:20074699	genomic	.,.
chr22:20074699	codon	.,.
chr22:20074699	protein	.,.
chr22:20074699	worst	silent
chr22:20074699	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20074699	nvar	1
chr22:20074699	var	chr22:20074699:C/T
chr22:20077720	allele_ref	A
chr22:20077720	allele_alt	C
chr22:20077720	seqdb_ref	A
chr22:20077720	snp_fw_seq3	CAG/CCG
chr22:20077720	snp_rv_seq3	CTG/CGG
chr22:20077720	func	silent,silent
chr22:20077720	transcript	NM_001190326,NM_022720
chr22:20077720	genomic	.,.
chr22:20077720	codon	.,.
chr22:20077720	protein	.,.
chr22:20077720	worst	silent
chr22:20077720	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20077720	nvar	1
chr22:20077720	var	chr22:20077720:A/C
chr22:20080447	allele_ref	G
chr22:20080447	allele_alt	A
chr22:20080447	seqdb_ref	G
chr22:20080447	snp_fw_seq3	GGG/GAG
chr22:20080447	snp_rv_seq3	CCC/CTC
chr22:20080447	func	intronic,intronic
chr22:20080447	transcript	NM_001190326,NM_022720
chr22:20080447	genomic	.,.
chr22:20080447	codon	.,.
chr22:20080447	protein	.,.
chr22:20080447	worst	intronic
chr22:20080447	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20080447	nvar	1
chr22:20080447	var	chr22:20080447:G/A
chr22:20100387	allele_ref	G
chr22:20100387	allele_alt	A
chr22:20100387	seqdb_ref	G
chr22:20100387	snp_fw_seq3	GGC/GAC
chr22:20100387	snp_rv_seq3	GCC/GTC
chr22:20100387	func	intronic,intronic
chr22:20100387	transcript	NM_022727,NM_182984
chr22:20100387	genomic	.,.
chr22:20100387	codon	.,.
chr22:20100387	protein	.,.
chr22:20100387	worst	intronic
chr22:20100387	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20100387	nvar	1
chr22:20100387	var	chr22:20100387:G/A
chr22:20100596	allele_ref	T
chr22:20100596	allele_alt	C
chr22:20100596	seqdb_ref	T
chr22:20100596	snp_fw_seq3	ATG/ACG
chr22:20100596	snp_rv_seq3	CAT/CGT
chr22:20100596	func	intronic,intronic
chr22:20100596	transcript	NM_022727,NM_182984
chr22:20100596	genomic	.,.
chr22:20100596	codon	.,.
chr22:20100596	protein	.,.
chr22:20100596	worst	intronic
chr22:20100596	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20100596	nvar	1
chr22:20100596	var	chr22:20100596:T/C
chr22:20100911	allele_ref	C
chr22:20100911	allele_alt	T
chr22:20100911	seqdb_ref	C
chr22:20100911	snp_fw_seq3	GCG/GTG
chr22:20100911	snp_rv_seq3	CGC/CAC
chr22:20100911	func	intronic,intronic
chr22:20100911	transcript	NM_022727,NM_182984
chr22:20100911	genomic	.,.
chr22:20100911	codon	.,.
chr22:20100911	protein	.,.
chr22:20100911	worst	intronic
chr22:20100911	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20100911	nvar	1
chr22:20100911	var	chr22:20100911:C/T
chr22:20101045	allele_ref	C
chr22:20101045	allele_alt	T
chr22:20101045	seqdb_ref	C
chr22:20101045	snp_fw_seq3	GCG/GTG
chr22:20101045	snp_rv_seq3	CGC/CAC
chr22:20101045	func	intronic,intronic
chr22:20101045	transcript	NM_022727,NM_182984
chr22:20101045	genomic	.,.
chr22:20101045	codon	.,.
chr22:20101045	protein	.,.
chr22:20101045	worst	intronic
chr22:20101045	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20101045	nvar	1
chr22:20101045	var	chr22:20101045:C/T
chr22:20102090	allele_ref	T
chr22:20102090	allele_alt	C
chr22:20102090	seqdb_ref	T
chr22:20102090	snp_fw_seq3	ATG/ACG
chr22:20102090	snp_rv_seq3	CAT/CGT
chr22:20102090	func	intronic,intronic
chr22:20102090	transcript	NM_022727,NM_182984
chr22:20102090	genomic	.,.
chr22:20102090	codon	.,.
chr22:20102090	protein	.,.
chr22:20102090	worst	intronic
chr22:20102090	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20102090	nvar	1
chr22:20102090	var	chr22:20102090:T/C
chr22:20102256	allele_ref	C
chr22:20102256	allele_alt	A
chr22:20102256	seqdb_ref	C
chr22:20102256	snp_fw_seq3	ACC/AAC
chr22:20102256	snp_rv_seq3	GGT/GTT
chr22:20102256	func	intronic,intronic
chr22:20102256	transcript	NM_022727,NM_182984
chr22:20102256	genomic	.,.
chr22:20102256	codon	.,.
chr22:20102256	protein	.,.
chr22:20102256	worst	intronic
chr22:20102256	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20102256	nvar	1
chr22:20102256	var	chr22:20102256:C/A
chr22:20102750	allele_ref	C
chr22:20102750	allele_alt	T
chr22:20102750	seqdb_ref	C
chr22:20102750	snp_fw_seq3	CCG/CTG
chr22:20102750	snp_rv_seq3	CGG/CAG
chr22:20102750	func	intronic,intronic
chr22:20102750	transcript	NM_022727,NM_182984
chr22:20102750	genomic	.,.
chr22:20102750	codon	.,.
chr22:20102750	protein	.,.
chr22:20102750	worst	intronic
chr22:20102750	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20102750	nvar	1
chr22:20102750	var	chr22:20102750:C/T
chr22:20104101	allele_ref	C
chr22:20104101	allele_alt	T
chr22:20104101	seqdb_ref	C
chr22:20104101	snp_fw_seq3	GCT/GTT
chr22:20104101	snp_rv_seq3	AGC/AAC
chr22:20104101	func	missense,missense
chr22:20104101	transcript	NM_022727,NM_182984
chr22:20104101	genomic	g.59C>T,g.59C>T
chr22:20104101	codon	c.59AGC>AAC,c.59AGC>AAC
chr22:20104101	protein	p.20S>N,p.20S>N
chr22:20104101	worst	missense
chr22:20104101	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20104101	nvar	1
chr22:20104101	var	chr22:20104101:C/T
chr22:20112868	allele_ref	C
chr22:20112868	allele_alt	T
chr22:20112868	seqdb_ref	C
chr22:20112868	snp_fw_seq3	GCG/GTG
chr22:20112868	snp_rv_seq3	CGC/CAC
chr22:20112868	func	silent
chr22:20112868	transcript	NM_002882
chr22:20112868	genomic	.
chr22:20112868	codon	.
chr22:20112868	protein	.
chr22:20112868	worst	silent
chr22:20112868	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20112868	nvar	1
chr22:20112868	var	chr22:20112868:C/T
chr22:20113777	allele_ref	T
chr22:20113777	allele_alt	C
chr22:20113777	seqdb_ref	T
chr22:20113777	snp_fw_seq3	CTC/CCC
chr22:20113777	snp_rv_seq3	GAG/GGG
chr22:20113777	func	intronic
chr22:20113777	transcript	NM_002882
chr22:20113777	genomic	.
chr22:20113777	codon	.
chr22:20113777	protein	.
chr22:20113777	worst	intronic
chr22:20113777	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20113777	nvar	1
chr22:20113777	var	chr22:20113777:T/C
chr22:20113809	allele_ref	C
chr22:20113809	allele_alt	T
chr22:20113809	seqdb_ref	C
chr22:20113809	snp_fw_seq3	TCG/TTG
chr22:20113809	snp_rv_seq3	CGA/CAA
chr22:20113809	func	intronic
chr22:20113809	transcript	NM_002882
chr22:20113809	genomic	.
chr22:20113809	codon	.
chr22:20113809	protein	.
chr22:20113809	worst	intronic
chr22:20113809	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20113809	nvar	1
chr22:20113809	var	chr22:20113809:C/T
chr22:20130626	allele_ref	C
chr22:20130626	allele_alt	T
chr22:20130626	seqdb_ref	C
chr22:20130626	snp_fw_seq3	ACG/ATG
chr22:20130626	snp_rv_seq3	CGT/CAT
chr22:20130626	func	silent,silent
chr22:20130626	transcript	NM_001185024,NM_013373
chr22:20130626	genomic	.,.
chr22:20130626	codon	.,.
chr22:20130626	protein	.,.
chr22:20130626	worst	silent
chr22:20130626	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20130626	nvar	1
chr22:20130626	var	chr22:20130626:C/T
chr22:20130654	allele_ref	G
chr22:20130654	allele_alt	A
chr22:20130654	seqdb_ref	G
chr22:20130654	snp_fw_seq3	CGT/CAT
chr22:20130654	snp_rv_seq3	ACG/ATG
chr22:20130654	func	missense,missense
chr22:20130654	transcript	NM_001185024,NM_013373
chr22:20130654	genomic	g.1501G>A,g.1501G>A
chr22:20130654	codon	c.1501GTG>ATG,c.1501GTG>ATG
chr22:20130654	protein	p.501V>M,p.501V>M
chr22:20130654	worst	missense
chr22:20130654	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20130654	nvar	1
chr22:20130654	var	chr22:20130654:G/A
chr22:20130697	allele_ref	G
chr22:20130697	allele_alt	A
chr22:20130697	seqdb_ref	G
chr22:20130697	snp_fw_seq3	GGC/GAC
chr22:20130697	snp_rv_seq3	GCC/GTC
chr22:20130697	func	missense,missense
chr22:20130697	transcript	NM_001185024,NM_013373
chr22:20130697	genomic	g.1544G>A,g.1544G>A
chr22:20130697	codon	c.1544GGC>GAC,c.1544GGC>GAC
chr22:20130697	protein	p.515G>D,p.515G>D
chr22:20130697	worst	missense
chr22:20130697	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20130697	nvar	1
chr22:20130697	var	chr22:20130697:G/A
chr22:20132858	allele_ref	A
chr22:20132858	allele_alt	G
chr22:20132858	seqdb_ref	A
chr22:20132858	snp_fw_seq3	TAC/TGC
chr22:20132858	snp_rv_seq3	GTA/GCA
chr22:20132858	func	intronic,missense
chr22:20132858	transcript	NM_001185024,NM_013373
chr22:20132858	genomic	.,g.2233A>G
chr22:20132858	codon	.,c.2233ACA>GCA
chr22:20132858	protein	.,p.745T>A
chr22:20132858	worst	missense
chr22:20132858	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20132858	nvar	1
chr22:20132858	var	chr22:20132858:A/G
chr22:20132972	allele_ref	A
chr22:20132972	allele_alt	G
chr22:20132972	seqdb_ref	A
chr22:20132972	snp_fw_seq3	CAC/CGC
chr22:20132972	snp_rv_seq3	GTG/GCG
chr22:20132972	func	intronic,3-UTR
chr22:20132972	transcript	NM_001185024,NM_013373
chr22:20132972	genomic	.,.
chr22:20132972	codon	.,.
chr22:20132972	protein	.,.
chr22:20132972	worst	UTR3
chr22:20132972	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:20132972	nvar	1
chr22:20132972	var	chr22:20132972:A/G
chr22:20229561	allele_ref	G
chr22:20229561	allele_alt	A
chr22:20229561	seqdb_ref	G
chr22:20229561	snp_fw_seq3	CGG/CAG
chr22:20229561	snp_rv_seq3	CCG/CTG
chr22:20229561	func	silent
chr22:20229561	transcript	NM_023004
chr22:20229561	genomic	.
chr22:20229561	codon	.
chr22:20229561	protein	.
chr22:20229561	worst	silent
chr22:20229561	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20229561	nvar	1
chr22:20229561	var	chr22:20229561:G/A
chr22:20229716	allele_ref	C
chr22:20229716	allele_alt	T
chr22:20229716	seqdb_ref	C
chr22:20229716	snp_fw_seq3	CCG/CTG
chr22:20229716	snp_rv_seq3	CGG/CAG
chr22:20229716	func	missense
chr22:20229716	transcript	NM_023004
chr22:20229716	genomic	g.940C>T
chr22:20229716	codon	c.940GGC>AGC
chr22:20229716	protein	p.314G>S
chr22:20229716	worst	missense
chr22:20229716	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20229716	nvar	1
chr22:20229716	var	chr22:20229716:C/T
chr22:20230080	allele_ref	G
chr22:20230080	allele_alt	A
chr22:20230080	seqdb_ref	G
chr22:20230080	snp_fw_seq3	CGC/CAC
chr22:20230080	snp_rv_seq3	GCG/GTG
chr22:20230080	func	silent
chr22:20230080	transcript	NM_023004
chr22:20230080	genomic	.
chr22:20230080	codon	.
chr22:20230080	protein	.
chr22:20230080	worst	silent
chr22:20230080	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20230080	nvar	1
chr22:20230080	var	chr22:20230080:G/A
chr22:20230301	allele_ref	G
chr22:20230301	allele_alt	A
chr22:20230301	seqdb_ref	G
chr22:20230301	snp_fw_seq3	CGG/CAG
chr22:20230301	snp_rv_seq3	CCG/CTG
chr22:20230301	func	missense
chr22:20230301	transcript	NM_023004
chr22:20230301	genomic	g.355G>A
chr22:20230301	codon	c.355CGG>TGG
chr22:20230301	protein	p.119R>W
chr22:20230301	worst	missense
chr22:20230301	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20230301	nvar	1
chr22:20230301	var	chr22:20230301:G/A
chr22:20303024	allele_ref	G
chr22:20303024	allele_alt	C
chr22:20303024	seqdb_ref	G
chr22:20303024	snp_fw_seq3	GGG/GCG
chr22:20303024	snp_rv_seq3	CCC/CGC
chr22:20303024	func	intronic
chr22:20303024	transcript	NM_033257
chr22:20303024	genomic	.
chr22:20303024	codon	.
chr22:20303024	protein	.
chr22:20303024	worst	intronic
chr22:20303024	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20303024	nvar	1
chr22:20303024	var	chr22:20303024:G/C
chr22:20307256	allele_ref	G
chr22:20307256	allele_alt	A
chr22:20307256	seqdb_ref	G
chr22:20307256	snp_fw_seq3	CGG/CAG
chr22:20307256	snp_rv_seq3	CCG/CTG
chr22:20307256	func	silent
chr22:20307256	transcript	NM_033257
chr22:20307256	genomic	.
chr22:20307256	codon	.
chr22:20307256	protein	.
chr22:20307256	worst	silent
chr22:20307256	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20307256	nvar	1
chr22:20307256	var	chr22:20307256:G/A
chr22:20755098	allele_ref	A
chr22:20755098	allele_alt	G
chr22:20755098	seqdb_ref	A
chr22:20755098	snp_fw_seq3	TAC/TGC
chr22:20755098	snp_rv_seq3	GTA/GCA
chr22:20755098	func	intronic,intronic,intronic,intronic,intronic
chr22:20755098	transcript	NM_001256523,NM_001256524,NM_001256525,NM_003426,NR_046282
chr22:20755098	genomic	.,.,.,.,.
chr22:20755098	codon	.,.,.,.,.
chr22:20755098	protein	.,.,.,.,.
chr22:20755098	worst	intronic
chr22:20755098	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20755098	nvar	1
chr22:20755098	var	chr22:20755098:A/G
chr22:20759620	allele_ref	G
chr22:20759620	allele_alt	A
chr22:20759620	seqdb_ref	G
chr22:20759620	snp_fw_seq3	GGC/GAC
chr22:20759620	snp_rv_seq3	GCC/GTC
chr22:20759620	func	intronic,intronic,intronic,intronic,intronic
chr22:20759620	transcript	NM_001256523,NM_001256524,NM_001256525,NM_003426,NR_046282
chr22:20759620	genomic	.,.,.,.,.
chr22:20759620	codon	.,.,.,.,.
chr22:20759620	protein	.,.,.,.,.
chr22:20759620	worst	intronic
chr22:20759620	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20759620	nvar	1
chr22:20759620	var	chr22:20759620:G/A
chr22:20759825	allele_ref	C
chr22:20759825	allele_alt	A
chr22:20759825	seqdb_ref	C
chr22:20759825	snp_fw_seq3	ACC/AAC
chr22:20759825	snp_rv_seq3	GGT/GTT
chr22:20759825	func	missense,missense,missense,missense,npcRNA
chr22:20759825	transcript	NM_001256523,NM_001256524,NM_001256525,NM_003426,NR_046282
chr22:20759825	genomic	g.416C>A,g.502C>A,g.289C>A,g.502C>A,.
chr22:20759825	codon	c.416ACC>AAC,c.502CCT>ACT,c.289CCT>ACT,c.502CCT>ACT,.
chr22:20759825	protein	p.139T>N,p.168P>T,p.97P>T,p.168P>T,.
chr22:20759825	worst	missense
chr22:20759825	class	mixed,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:20759825	nvar	1
chr22:20759825	var	chr22:20759825:C/A
chr22:20760106	allele_ref	C
chr22:20760106	allele_alt	T
chr22:20760106	seqdb_ref	C
chr22:20760106	snp_fw_seq3	CCT/CTT
chr22:20760106	snp_rv_seq3	AGG/AAG
chr22:20760106	func	3-UTR,silent,silent,silent,npcRNA
chr22:20760106	transcript	NM_001256523,NM_001256524,NM_001256525,NM_003426,NR_046282
chr22:20760106	genomic	.,.,.,.,.
chr22:20760106	codon	.,.,.,.,.
chr22:20760106	protein	.,.,.,.,.
chr22:20760106	worst	silent
chr22:20760106	class	mixed,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=1
chr22:20760106	nvar	1
chr22:20760106	var	chr22:20760106:C/T
chr22:20760562	allele_ref	C
chr22:20760562	allele_alt	T
chr22:20760562	seqdb_ref	C
chr22:20760562	snp_fw_seq3	ACA/ATA
chr22:20760562	snp_rv_seq3	TGT/TAT
chr22:20760562	func	3-UTR,silent,silent,silent,npcRNA
chr22:20760562	transcript	NM_001256523,NM_001256524,NM_001256525,NM_003426,NR_046282
chr22:20760562	genomic	.,.,.,.,.
chr22:20760562	codon	.,.,.,.,.
chr22:20760562	protein	.,.,.,.,.
chr22:20760562	worst	silent
chr22:20760562	class	mixed,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=1
chr22:20760562	nvar	1
chr22:20760562	var	chr22:20760562:C/T
chr22:20760977	allele_ref	G
chr22:20760977	allele_alt	A
chr22:20760977	seqdb_ref	G
chr22:20760977	snp_fw_seq3	CGG/CAG
chr22:20760977	snp_rv_seq3	CCG/CTG
chr22:20760977	func	3-UTR,missense,missense,missense,npcRNA
chr22:20760977	transcript	NM_001256523,NM_001256524,NM_001256525,NM_003426,NR_046282
chr22:20760977	genomic	.,g.1654G>A,g.1441G>A,g.1654G>A,.
chr22:20760977	codon	.,c.1654GGG>AGG,c.1441GGG>AGG,c.1654GGG>AGG,.
chr22:20760977	protein	.,p.552G>R,p.481G>R,p.552G>R,.
chr22:20760977	worst	missense
chr22:20760977	class	mixed,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=1
chr22:20760977	nvar	1
chr22:20760977	var	chr22:20760977:G/A
chr22:20761033	allele_ref	C
chr22:20761033	allele_alt	A
chr22:20761033	seqdb_ref	C
chr22:20761033	snp_fw_seq3	ACC/AAC
chr22:20761033	snp_rv_seq3	GGT/GTT
chr22:20761033	func	3-UTR,missense,missense,missense,npcRNA
chr22:20761033	transcript	NM_001256523,NM_001256524,NM_001256525,NM_003426,NR_046282
chr22:20761033	genomic	.,g.1710C>A,g.1497C>A,g.1710C>A,.
chr22:20761033	codon	.,c.1710CAC>CAA,c.1497CAC>CAA,c.1710CAC>CAA,.
chr22:20761033	protein	.,p.570H>Q,p.499H>Q,p.570H>Q,.
chr22:20761033	worst	missense
chr22:20761033	class	mixed,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=1
chr22:20761033	nvar	1
chr22:20761033	var	chr22:20761033:C/A
chr22:20761063	allele_ref	G
chr22:20761063	allele_alt	A
chr22:20761063	seqdb_ref	G
chr22:20761063	snp_fw_seq3	AGG/AAG
chr22:20761063	snp_rv_seq3	CCT/CTT
chr22:20761063	func	3-UTR,silent,silent,silent,npcRNA
chr22:20761063	transcript	NM_001256523,NM_001256524,NM_001256525,NM_003426,NR_046282
chr22:20761063	genomic	.,.,.,.,.
chr22:20761063	codon	.,.,.,.,.
chr22:20761063	protein	.,.,.,.,.
chr22:20761063	worst	silent
chr22:20761063	class	mixed,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=1
chr22:20761063	nvar	1
chr22:20761063	var	chr22:20761063:G/A
chr22:20779768	allele_ref	G
chr22:20779768	allele_alt	C
chr22:20779768	seqdb_ref	G
chr22:20779768	snp_fw_seq3	CGC/CCC
chr22:20779768	snp_rv_seq3	GCG/GGG
chr22:20779768	func	missense,missense
chr22:20779768	transcript	NM_153334,NM_182895
chr22:20779768	genomic	g.2510G>C,g.2495G>C
chr22:20779768	codon	c.2510GCG>GGG,c.2495GCG>GGG
chr22:20779768	protein	p.837A>G,p.832A>G
chr22:20779768	worst	missense
chr22:20779768	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20779768	nvar	1
chr22:20779768	var	chr22:20779768:G/C
chr22:20779822	allele_ref	G
chr22:20779822	allele_alt	C
chr22:20779822	seqdb_ref	G
chr22:20779822	snp_fw_seq3	CGC/CCC
chr22:20779822	snp_rv_seq3	GCG/GGG
chr22:20779822	func	missense,missense
chr22:20779822	transcript	NM_153334,NM_182895
chr22:20779822	genomic	g.2456G>C,g.2441G>C
chr22:20779822	codon	c.2456GCG>GGG,c.2441GCG>GGG
chr22:20779822	protein	p.819A>G,p.814A>G
chr22:20779822	worst	missense
chr22:20779822	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20779822	nvar	1
chr22:20779822	var	chr22:20779822:G/C
chr22:20780079	allele_ref	C
chr22:20780079	allele_alt	T
chr22:20780079	seqdb_ref	C
chr22:20780079	snp_fw_seq3	CCT/CTT
chr22:20780079	snp_rv_seq3	AGG/AAG
chr22:20780079	func	silent,silent
chr22:20780079	transcript	NM_153334,NM_182895
chr22:20780079	genomic	.,.
chr22:20780079	codon	.,.
chr22:20780079	protein	.,.
chr22:20780079	worst	silent
chr22:20780079	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20780079	nvar	1
chr22:20780079	var	chr22:20780079:C/T
chr22:20781670	allele_ref	T
chr22:20781670	allele_alt	C
chr22:20781670	seqdb_ref	T
chr22:20781670	snp_fw_seq3	GTA/GCA
chr22:20781670	snp_rv_seq3	TAC/TGC
chr22:20781670	func	intronic,intronic
chr22:20781670	transcript	NM_153334,NM_182895
chr22:20781670	genomic	.,.
chr22:20781670	codon	.,.
chr22:20781670	protein	.,.
chr22:20781670	worst	intronic
chr22:20781670	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20781670	nvar	1
chr22:20781670	var	chr22:20781670:T/C
chr22:20781725	allele_ref	G
chr22:20781725	allele_alt	A
chr22:20781725	seqdb_ref	G
chr22:20781725	snp_fw_seq3	TGT/TAT
chr22:20781725	snp_rv_seq3	ACA/ATA
chr22:20781725	func	silent,silent
chr22:20781725	transcript	NM_153334,NM_182895
chr22:20781725	genomic	.,.
chr22:20781725	codon	.,.
chr22:20781725	protein	.,.
chr22:20781725	worst	silent
chr22:20781725	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20781725	nvar	1
chr22:20781725	var	chr22:20781725:G/A
chr22:20781827	allele_ref	G
chr22:20781827	allele_alt	A
chr22:20781827	seqdb_ref	G
chr22:20781827	snp_fw_seq3	CGT/CAT
chr22:20781827	snp_rv_seq3	ACG/ATG
chr22:20781827	func	silent,silent
chr22:20781827	transcript	NM_153334,NM_182895
chr22:20781827	genomic	.,.
chr22:20781827	codon	.,.
chr22:20781827	protein	.,.
chr22:20781827	worst	silent
chr22:20781827	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20781827	nvar	1
chr22:20781827	var	chr22:20781827:G/A
chr22:20781869	allele_ref	T
chr22:20781869	allele_alt	C
chr22:20781869	seqdb_ref	T
chr22:20781869	snp_fw_seq3	GTC/GCC
chr22:20781869	snp_rv_seq3	GAC/GGC
chr22:20781869	func	intronic,intronic
chr22:20781869	transcript	NM_153334,NM_182895
chr22:20781869	genomic	.,.
chr22:20781869	codon	.,.
chr22:20781869	protein	.,.
chr22:20781869	worst	intronic
chr22:20781869	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20781869	nvar	1
chr22:20781869	var	chr22:20781869:T/C
chr22:20783485	allele_ref	C
chr22:20783485	allele_alt	A
chr22:20783485	seqdb_ref	C
chr22:20783485	snp_fw_seq3	CCC/CAC
chr22:20783485	snp_rv_seq3	GGG/GTG
chr22:20783485	func	intronic,intronic
chr22:20783485	transcript	NM_153334,NM_182895
chr22:20783485	genomic	.,.
chr22:20783485	codon	.,.
chr22:20783485	protein	.,.
chr22:20783485	worst	intronic
chr22:20783485	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20783485	nvar	1
chr22:20783485	var	chr22:20783485:C/A
chr22:20783692	allele_ref	G
chr22:20783692	allele_alt	C
chr22:20783692	seqdb_ref	G
chr22:20783692	snp_fw_seq3	CGG/CCG
chr22:20783692	snp_rv_seq3	CCG/CGG
chr22:20783692	func	intronic,intronic
chr22:20783692	transcript	NM_153334,NM_182895
chr22:20783692	genomic	.,.
chr22:20783692	codon	.,.
chr22:20783692	protein	.,.
chr22:20783692	worst	intronic
chr22:20783692	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20783692	nvar	1
chr22:20783692	var	chr22:20783692:G/C
chr22:20783783	allele_ref	G
chr22:20783783	allele_alt	C
chr22:20783783	seqdb_ref	G
chr22:20783783	snp_fw_seq3	GGC/GCC
chr22:20783783	snp_rv_seq3	GCC/GGC
chr22:20783783	func	intronic,intronic
chr22:20783783	transcript	NM_153334,NM_182895
chr22:20783783	genomic	.,.
chr22:20783783	codon	.,.
chr22:20783783	protein	.,.
chr22:20783783	worst	intronic
chr22:20783783	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20783783	nvar	1
chr22:20783783	var	chr22:20783783:G/C
chr22:20783960	allele_ref	C
chr22:20783960	allele_alt	T
chr22:20783960	seqdb_ref	C
chr22:20783960	snp_fw_seq3	TCA/TTA
chr22:20783960	snp_rv_seq3	TGA/TAA
chr22:20783960	func	intronic,intronic
chr22:20783960	transcript	NM_153334,NM_182895
chr22:20783960	genomic	.,.
chr22:20783960	codon	.,.
chr22:20783960	protein	.,.
chr22:20783960	worst	intronic
chr22:20783960	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20783960	nvar	1
chr22:20783960	var	chr22:20783960:C/T
chr22:20784050	allele_ref	T
chr22:20784050	allele_alt	A
chr22:20784050	seqdb_ref	T
chr22:20784050	snp_fw_seq3	GTG/GAG
chr22:20784050	snp_rv_seq3	CAC/CTC
chr22:20784050	func	missense,missense
chr22:20784050	transcript	NM_153334,NM_182895
chr22:20784050	genomic	g.1273T>A,g.1273T>A
chr22:20784050	codon	c.1273ACG>TCG,c.1273ACG>TCG
chr22:20784050	protein	p.425T>S,p.425T>S
chr22:20784050	worst	missense
chr22:20784050	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20784050	nvar	1
chr22:20784050	var	chr22:20784050:T/A
chr22:20791821	allele_ref	G
chr22:20791821	allele_alt	A
chr22:20791821	seqdb_ref	G
chr22:20791821	snp_fw_seq3	TGC/TAC
chr22:20791821	snp_rv_seq3	GCA/GTA
chr22:20791821	func	intronic,intronic
chr22:20791821	transcript	NM_153334,NM_182895
chr22:20791821	genomic	.,.
chr22:20791821	codon	.,.
chr22:20791821	protein	.,.
chr22:20791821	worst	intronic
chr22:20791821	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20791821	nvar	1
chr22:20791821	var	chr22:20791821:G/A
chr22:20800835	allele_ref	A
chr22:20800835	allele_alt	G
chr22:20800835	seqdb_ref	A
chr22:20800835	snp_fw_seq3	CAT/CGT
chr22:20800835	snp_rv_seq3	ATG/ACG
chr22:20800835	func	silent,npcRNA
chr22:20800835	transcript	NM_032775,NR_033825
chr22:20800835	genomic	.,.
chr22:20800835	codon	.,.
chr22:20800835	protein	.,.
chr22:20800835	worst	silent
chr22:20800835	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:20800835	nvar	1
chr22:20800835	var	chr22:20800835:A/G
chr22:20800983	allele_ref	G
chr22:20800983	allele_alt	A
chr22:20800983	seqdb_ref	G
chr22:20800983	snp_fw_seq3	AGA/AAA
chr22:20800983	snp_rv_seq3	TCT/TTT
chr22:20800983	func	intronic,intronic
chr22:20800983	transcript	NM_032775,NR_033825
chr22:20800983	genomic	.,.
chr22:20800983	codon	.,.
chr22:20800983	protein	.,.
chr22:20800983	worst	intronic
chr22:20800983	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20800983	nvar	1
chr22:20800983	var	chr22:20800983:G/A
chr22:20843378	allele_ref	G
chr22:20843378	allele_alt	A
chr22:20843378	seqdb_ref	G
chr22:20843378	snp_fw_seq3	AGC/AAC
chr22:20843378	snp_rv_seq3	GCT/GTT
chr22:20843378	func	silent,npcRNA
chr22:20843378	transcript	NM_032775,NR_033825
chr22:20843378	genomic	.,.
chr22:20843378	codon	.,.
chr22:20843378	protein	.,.
chr22:20843378	worst	silent
chr22:20843378	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:20843378	nvar	1
chr22:20843378	var	chr22:20843378:G/A
chr22:20861934	allele_ref	G
chr22:20861934	allele_alt	A
chr22:20861934	seqdb_ref	G
chr22:20861934	snp_fw_seq3	CGG/CAG
chr22:20861934	snp_rv_seq3	CCG/CTG
chr22:20861934	func	5-UTR,5-UTR
chr22:20861934	transcript	NM_001003891,NM_015889
chr22:20861934	genomic	.,.
chr22:20861934	codon	.,.
chr22:20861934	protein	.,.
chr22:20861934	worst	UTR5
chr22:20861934	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=2,UTR3=0,npcRNA=0
chr22:20861934	nvar	1
chr22:20861934	var	chr22:20861934:G/A
chr22:20891366	allele_ref	T
chr22:20891366	allele_alt	C
chr22:20891366	seqdb_ref	T
chr22:20891366	snp_fw_seq3	CTG/CCG
chr22:20891366	snp_rv_seq3	CAG/CGG
chr22:20891366	func	intronic,intronic
chr22:20891366	transcript	NM_001003891,NM_015889
chr22:20891366	genomic	.,.
chr22:20891366	codon	.,.
chr22:20891366	protein	.,.
chr22:20891366	worst	intronic
chr22:20891366	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20891366	nvar	1
chr22:20891366	var	chr22:20891366:T/C
chr22:20909371	allele_ref	G
chr22:20909371	allele_alt	A
chr22:20909371	seqdb_ref	G
chr22:20909371	snp_fw_seq3	CGC/CAC
chr22:20909371	snp_rv_seq3	GCG/GTG
chr22:20909371	func	silent,silent
chr22:20909371	transcript	NM_001003891,NM_015889
chr22:20909371	genomic	.,.
chr22:20909371	codon	.,.
chr22:20909371	protein	.,.
chr22:20909371	worst	silent
chr22:20909371	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20909371	nvar	1
chr22:20909371	var	chr22:20909371:G/A
chr22:20909389	allele_ref	G
chr22:20909389	allele_alt	A
chr22:20909389	seqdb_ref	G
chr22:20909389	snp_fw_seq3	GGA/GAA
chr22:20909389	snp_rv_seq3	TCC/TTC
chr22:20909389	func	silent,silent
chr22:20909389	transcript	NM_001003891,NM_015889
chr22:20909389	genomic	.,.
chr22:20909389	codon	.,.
chr22:20909389	protein	.,.
chr22:20909389	worst	silent
chr22:20909389	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20909389	nvar	1
chr22:20909389	var	chr22:20909389:G/A
chr22:20937074	allele_ref	G
chr22:20937074	allele_alt	A
chr22:20937074	seqdb_ref	G
chr22:20937074	snp_fw_seq3	CGA/CAA
chr22:20937074	snp_rv_seq3	TCG/TTG
chr22:20937074	func	intronic,intronic
chr22:20937074	transcript	NM_001003891,NM_015889
chr22:20937074	genomic	.,.
chr22:20937074	codon	.,.
chr22:20937074	protein	.,.
chr22:20937074	worst	intronic
chr22:20937074	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20937074	nvar	1
chr22:20937074	var	chr22:20937074:G/A
chr22:20937601	allele_ref	C
chr22:20937601	allele_alt	T
chr22:20937601	seqdb_ref	C
chr22:20937601	snp_fw_seq3	ACC/ATC
chr22:20937601	snp_rv_seq3	GGT/GAT
chr22:20937601	func	intronic,intronic
chr22:20937601	transcript	NM_001003891,NM_015889
chr22:20937601	genomic	.,.
chr22:20937601	codon	.,.
chr22:20937601	protein	.,.
chr22:20937601	worst	intronic
chr22:20937601	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20937601	nvar	1
chr22:20937601	var	chr22:20937601:C/T
chr22:20939123	allele_ref	G
chr22:20939123	allele_alt	A
chr22:20939123	seqdb_ref	G
chr22:20939123	snp_fw_seq3	CGT/CAT
chr22:20939123	snp_rv_seq3	ACG/ATG
chr22:20939123	func	intronic,intronic
chr22:20939123	transcript	NM_001003891,NM_015889
chr22:20939123	genomic	.,.
chr22:20939123	codon	.,.
chr22:20939123	protein	.,.
chr22:20939123	worst	intronic
chr22:20939123	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20939123	nvar	1
chr22:20939123	var	chr22:20939123:G/A
chr22:20939400	allele_ref	G
chr22:20939400	allele_alt	A
chr22:20939400	seqdb_ref	G
chr22:20939400	snp_fw_seq3	TGT/TAT
chr22:20939400	snp_rv_seq3	ACA/ATA
chr22:20939400	func	silent,silent
chr22:20939400	transcript	NM_001003891,NM_015889
chr22:20939400	genomic	.,.
chr22:20939400	codon	.,.
chr22:20939400	protein	.,.
chr22:20939400	worst	silent
chr22:20939400	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:20939400	nvar	1
chr22:20939400	var	chr22:20939400:G/A
chr22:21066789	allele_ref	A
chr22:21066789	allele_alt	G
chr22:21066789	seqdb_ref	A
chr22:21066789	snp_fw_seq3	GAG/GGG
chr22:21066789	snp_rv_seq3	CTC/CCC
chr22:21066789	func	silent,silent
chr22:21066789	transcript	NM_002650,NM_058004
chr22:21066789	genomic	.,.
chr22:21066789	codon	.,.
chr22:21066789	protein	.,.
chr22:21066789	worst	silent
chr22:21066789	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21066789	nvar	1
chr22:21066789	var	chr22:21066789:A/G
chr22:21066897	allele_ref	G
chr22:21066897	allele_alt	A
chr22:21066897	seqdb_ref	G
chr22:21066897	snp_fw_seq3	CGC/CAC
chr22:21066897	snp_rv_seq3	GCG/GTG
chr22:21066897	func	silent,splice,silent,splice
chr22:21066897	annot_details	DIST=-2,NMD=0,OFPTV=1,EXIN=18,ISEQ=GATCCT,ESEQ=GGGCGT,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS18+-2C>T,DIST=-2,NMD=0,OFPTV=1,EXIN=50,ISEQ=GATCCT,ESEQ=GGGCGT,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS50+-2C>T
chr22:21066897	transcript	NM_002650,NM_002650,NM_058004,NM_058004
chr22:21066897	genomic	.,.,.,.
chr22:21066897	codon	.,.,.,.
chr22:21066897	protein	.,.,.,.
chr22:21066897	worst	splice
chr22:21066897	class	mixed,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21066897	nvar	1
chr22:21066897	var	chr22:21066897:G/A
chr22:21066936	allele_ref	C
chr22:21066936	allele_alt	T
chr22:21066936	seqdb_ref	C
chr22:21066936	snp_fw_seq3	GCG/GTG
chr22:21066936	snp_rv_seq3	CGC/CAC
chr22:21066936	func	intronic,intronic
chr22:21066936	transcript	NM_002650,NM_058004
chr22:21066936	genomic	.,.
chr22:21066936	codon	.,.
chr22:21066936	protein	.,.
chr22:21066936	worst	intronic
chr22:21066936	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21066936	nvar	1
chr22:21066936	var	chr22:21066936:C/T
chr22:21066942	allele_ref	G
chr22:21066942	allele_alt	T
chr22:21066942	seqdb_ref	G
chr22:21066942	snp_fw_seq3	TGC/TTC
chr22:21066942	snp_rv_seq3	GCA/GAA
chr22:21066942	func	intronic,intronic
chr22:21066942	transcript	NM_002650,NM_058004
chr22:21066942	genomic	.,.
chr22:21066942	codon	.,.
chr22:21066942	protein	.,.
chr22:21066942	worst	intronic
chr22:21066942	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21066942	nvar	1
chr22:21066942	var	chr22:21066942:G/T
chr22:21068850	allele_ref	T
chr22:21068850	allele_alt	G
chr22:21068850	seqdb_ref	T
chr22:21068850	snp_fw_seq3	ATG/AGG
chr22:21068850	snp_rv_seq3	CAT/CCT
chr22:21068850	func	intronic,intronic
chr22:21068850	transcript	NM_002650,NM_058004
chr22:21068850	genomic	.,.
chr22:21068850	codon	.,.
chr22:21068850	protein	.,.
chr22:21068850	worst	intronic
chr22:21068850	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21068850	nvar	1
chr22:21068850	var	chr22:21068850:T/G
chr22:21068878	allele_ref	C
chr22:21068878	allele_alt	T
chr22:21068878	seqdb_ref	C
chr22:21068878	snp_fw_seq3	ACG/ATG
chr22:21068878	snp_rv_seq3	CGT/CAT
chr22:21068878	func	intronic,intronic
chr22:21068878	transcript	NM_002650,NM_058004
chr22:21068878	genomic	.,.
chr22:21068878	codon	.,.
chr22:21068878	protein	.,.
chr22:21068878	worst	intronic
chr22:21068878	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21068878	nvar	1
chr22:21068878	var	chr22:21068878:C/T
chr22:21072979	allele_ref	A
chr22:21072979	allele_alt	T
chr22:21072979	seqdb_ref	A
chr22:21072979	snp_fw_seq3	TAC/TTC
chr22:21072979	snp_rv_seq3	GTA/GAA
chr22:21072979	func	intronic,splice-donor-in2,intronic,splice-donor-in2
chr22:21072979	annot_details	DIST=2,NMD=0,OFPTV=1,EXIN=12,ISEQ=TGAATG,ESEQ=AACTAC,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS12+2T>A,DIST=2,NMD=0,OFPTV=1,EXIN=44,ISEQ=TGAATG,ESEQ=AACTAC,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS44+2T>A
chr22:21072979	transcript	NM_002650,NM_002650,NM_058004,NM_058004
chr22:21072979	genomic	.,.,.,.
chr22:21072979	codon	.,.,.,.
chr22:21072979	protein	.,.,.,.
chr22:21072979	worst	esplice
chr22:21072979	class	esplice,NON=0,SL=0,MIS=0,SYN=0,ESPL=2,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21072979	nvar	1
chr22:21072979	var	chr22:21072979:A/T
chr22:21073122	allele_ref	G
chr22:21073122	allele_alt	A
chr22:21073122	seqdb_ref	G
chr22:21073122	snp_fw_seq3	AGC/AAC
chr22:21073122	snp_rv_seq3	GCT/GTT
chr22:21073122	func	intronic,intronic
chr22:21073122	transcript	NM_002650,NM_058004
chr22:21073122	genomic	.,.
chr22:21073122	codon	.,.
chr22:21073122	protein	.,.
chr22:21073122	worst	intronic
chr22:21073122	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21073122	nvar	1
chr22:21073122	var	chr22:21073122:G/A
chr22:21075537	allele_ref	A
chr22:21075537	allele_alt	C
chr22:21075537	seqdb_ref	A
chr22:21075537	snp_fw_seq3	CAG/CCG
chr22:21075537	snp_rv_seq3	CTG/CGG
chr22:21075537	func	intronic,intronic
chr22:21075537	transcript	NM_002650,NM_058004
chr22:21075537	genomic	.,.
chr22:21075537	codon	.,.
chr22:21075537	protein	.,.
chr22:21075537	worst	intronic
chr22:21075537	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21075537	nvar	1
chr22:21075537	var	chr22:21075537:A/C
chr22:21082013	allele_ref	G
chr22:21082013	allele_alt	A
chr22:21082013	seqdb_ref	G
chr22:21082013	snp_fw_seq3	TGC/TAC
chr22:21082013	snp_rv_seq3	GCA/GTA
chr22:21082013	func	intronic,intronic
chr22:21082013	transcript	NM_002650,NM_058004
chr22:21082013	genomic	.,.
chr22:21082013	codon	.,.
chr22:21082013	protein	.,.
chr22:21082013	worst	intronic
chr22:21082013	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21082013	nvar	1
chr22:21082013	var	chr22:21082013:G/A
chr22:21082033	allele_ref	C
chr22:21082033	allele_alt	T
chr22:21082033	seqdb_ref	C
chr22:21082033	snp_fw_seq3	ACT/ATT
chr22:21082033	snp_rv_seq3	AGT/AAT
chr22:21082033	func	intronic,intronic
chr22:21082033	transcript	NM_002650,NM_058004
chr22:21082033	genomic	.,.
chr22:21082033	codon	.,.
chr22:21082033	protein	.,.
chr22:21082033	worst	intronic
chr22:21082033	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21082033	nvar	1
chr22:21082033	var	chr22:21082033:C/T
chr22:21083611	allele_ref	G
chr22:21083611	allele_alt	A
chr22:21083611	seqdb_ref	G
chr22:21083611	snp_fw_seq3	AGC/AAC
chr22:21083611	snp_rv_seq3	GCT/GTT
chr22:21083611	func	silent,silent
chr22:21083611	transcript	NM_002650,NM_058004
chr22:21083611	genomic	.,.
chr22:21083611	codon	.,.
chr22:21083611	protein	.,.
chr22:21083611	worst	silent
chr22:21083611	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21083611	nvar	1
chr22:21083611	var	chr22:21083611:G/A
chr22:21084220	allele_ref	G
chr22:21084220	allele_alt	A
chr22:21084220	seqdb_ref	G
chr22:21084220	snp_fw_seq3	GGT/GAT
chr22:21084220	snp_rv_seq3	ACC/ATC
chr22:21084220	func	silent,silent
chr22:21084220	transcript	NM_002650,NM_058004
chr22:21084220	genomic	.,.
chr22:21084220	codon	.,.
chr22:21084220	protein	.,.
chr22:21084220	worst	silent
chr22:21084220	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21084220	nvar	1
chr22:21084220	var	chr22:21084220:G/A
chr22:21088146	allele_ref	C
chr22:21088146	allele_alt	G
chr22:21088146	seqdb_ref	C
chr22:21088146	snp_fw_seq3	CCG/CGG
chr22:21088146	snp_rv_seq3	CGG/CCG
chr22:21088146	func	intronic,intronic
chr22:21088146	transcript	NM_002650,NM_058004
chr22:21088146	genomic	.,.
chr22:21088146	codon	.,.
chr22:21088146	protein	.,.
chr22:21088146	worst	intronic
chr22:21088146	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21088146	nvar	1
chr22:21088146	var	chr22:21088146:C/G
chr22:21105998	allele_ref	C
chr22:21105998	allele_alt	T
chr22:21105998	seqdb_ref	C
chr22:21105998	snp_fw_seq3	CCA/CTA
chr22:21105998	snp_rv_seq3	TGG/TAG
chr22:21105998	func	silent
chr22:21105998	transcript	NM_058004
chr22:21105998	genomic	.
chr22:21105998	codon	.
chr22:21105998	protein	.
chr22:21105998	worst	silent
chr22:21105998	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21105998	nvar	1
chr22:21105998	var	chr22:21105998:C/T
chr22:21106055	allele_ref	G
chr22:21106055	allele_alt	A
chr22:21106055	seqdb_ref	G
chr22:21106055	snp_fw_seq3	AGC/AAC
chr22:21106055	snp_rv_seq3	GCT/GTT
chr22:21106055	func	intronic
chr22:21106055	transcript	NM_058004
chr22:21106055	genomic	.
chr22:21106055	codon	.
chr22:21106055	protein	.
chr22:21106055	worst	intronic
chr22:21106055	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21106055	nvar	1
chr22:21106055	var	chr22:21106055:G/A
chr22:21106077	allele_ref	C
chr22:21106077	allele_alt	T
chr22:21106077	seqdb_ref	C
chr22:21106077	snp_fw_seq3	CCA/CTA
chr22:21106077	snp_rv_seq3	TGG/TAG
chr22:21106077	func	intronic
chr22:21106077	transcript	NM_058004
chr22:21106077	genomic	.
chr22:21106077	codon	.
chr22:21106077	protein	.
chr22:21106077	worst	intronic
chr22:21106077	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21106077	nvar	1
chr22:21106077	var	chr22:21106077:C/T
chr22:21107153	allele_ref	T
chr22:21107153	allele_alt	C
chr22:21107153	seqdb_ref	T
chr22:21107153	snp_fw_seq3	ATA/ACA
chr22:21107153	snp_rv_seq3	TAT/TGT
chr22:21107153	func	intronic
chr22:21107153	transcript	NM_058004
chr22:21107153	genomic	.
chr22:21107153	codon	.
chr22:21107153	protein	.
chr22:21107153	worst	intronic
chr22:21107153	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21107153	nvar	1
chr22:21107153	var	chr22:21107153:T/C
chr22:21119995	allele_ref	A
chr22:21119995	allele_alt	T
chr22:21119995	seqdb_ref	A
chr22:21119995	snp_fw_seq3	GAA/GTA
chr22:21119995	snp_rv_seq3	TTC/TAC
chr22:21119995	func	intronic
chr22:21119995	transcript	NM_058004
chr22:21119995	genomic	.
chr22:21119995	codon	.
chr22:21119995	protein	.
chr22:21119995	worst	intronic
chr22:21119995	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21119995	nvar	1
chr22:21119995	var	chr22:21119995:A/T
chr22:21133609	allele_ref	C
chr22:21133609	allele_alt	T
chr22:21133609	seqdb_ref	C
chr22:21133609	snp_fw_seq3	ACT/ATT
chr22:21133609	snp_rv_seq3	AGT/AAT
chr22:21133609	func	silent,intronic
chr22:21133609	transcript	NM_000185,NM_058004
chr22:21133609	genomic	.,.
chr22:21133609	codon	.,.
chr22:21133609	protein	.,.
chr22:21133609	worst	silent
chr22:21133609	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21133609	nvar	1
chr22:21133609	var	chr22:21133609:C/T
chr22:21134067	allele_ref	T
chr22:21134067	allele_alt	C
chr22:21134067	seqdb_ref	T
chr22:21134067	snp_fw_seq3	GTT/GCT
chr22:21134067	snp_rv_seq3	AAC/AGC
chr22:21134067	func	missense,intronic
chr22:21134067	transcript	NM_000185,NM_058004
chr22:21134067	genomic	g.467T>C,.
chr22:21134067	codon	c.467GTT>GCT,.
chr22:21134067	protein	p.156V>A,.
chr22:21134067	worst	missense
chr22:21134067	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21134067	nvar	1
chr22:21134067	var	chr22:21134067:T/C
chr22:21134430	allele_ref	C
chr22:21134430	allele_alt	T
chr22:21134430	seqdb_ref	C
chr22:21134430	snp_fw_seq3	GCT/GTT
chr22:21134430	snp_rv_seq3	AGC/AAC
chr22:21134430	func	missense,intronic
chr22:21134430	transcript	NM_000185,NM_058004
chr22:21134430	genomic	g.830C>T,.
chr22:21134430	codon	c.830GCT>GTT,.
chr22:21134430	protein	p.277A>V,.
chr22:21134430	worst	missense
chr22:21134430	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21134430	nvar	1
chr22:21134430	var	chr22:21134430:C/T
chr22:21138487	allele_ref	C
chr22:21138487	allele_alt	T
chr22:21138487	seqdb_ref	C
chr22:21138487	snp_fw_seq3	ACT/ATT
chr22:21138487	snp_rv_seq3	AGT/AAT
chr22:21138487	func	silent,intronic
chr22:21138487	transcript	NM_000185,NM_058004
chr22:21138487	genomic	.,.
chr22:21138487	codon	.,.
chr22:21138487	protein	.,.
chr22:21138487	worst	silent
chr22:21138487	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21138487	nvar	1
chr22:21138487	var	chr22:21138487:C/T
chr22:21138544	allele_ref	C
chr22:21138544	allele_alt	T
chr22:21138544	seqdb_ref	C
chr22:21138544	snp_fw_seq3	ACT/ATT
chr22:21138544	snp_rv_seq3	AGT/AAT
chr22:21138544	func	intronic,intronic
chr22:21138544	transcript	NM_000185,NM_058004
chr22:21138544	genomic	.,.
chr22:21138544	codon	.,.
chr22:21138544	protein	.,.
chr22:21138544	worst	intronic
chr22:21138544	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21138544	nvar	1
chr22:21138544	var	chr22:21138544:C/T
chr22:21140287	allele_ref	T
chr22:21140287	allele_alt	C
chr22:21140287	seqdb_ref	T
chr22:21140287	snp_fw_seq3	GTC/GCC
chr22:21140287	snp_rv_seq3	GAC/GGC
chr22:21140287	func	intronic,splice,intronic
chr22:21140287	annot_details	DIST=-5,NMD=0,OFPTV=1,EXIN=4,ISEQ=GTCTAG,ESEQ=AACTCG,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS4+-5T>C
chr22:21140287	transcript	NM_000185,NM_000185,NM_058004
chr22:21140287	genomic	.,.,.
chr22:21140287	codon	.,.,.
chr22:21140287	protein	.,.,.
chr22:21140287	worst	splice
chr22:21140287	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21140287	nvar	1
chr22:21140287	var	chr22:21140287:T/C
chr22:21141179	allele_ref	C
chr22:21141179	allele_alt	T
chr22:21141179	seqdb_ref	C
chr22:21141179	snp_fw_seq3	ACG/ATG
chr22:21141179	snp_rv_seq3	CGT/CAT
chr22:21141179	func	missense,intronic
chr22:21141179	transcript	NM_000185,NM_058004
chr22:21141179	genomic	g.1325C>T,.
chr22:21141179	codon	c.1325ACG>ATG,.
chr22:21141179	protein	p.442T>M,.
chr22:21141179	worst	missense
chr22:21141179	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21141179	nvar	1
chr22:21141179	var	chr22:21141179:C/T
chr22:21141300	allele_ref	T
chr22:21141300	allele_alt	C
chr22:21141300	seqdb_ref	T
chr22:21141300	snp_fw_seq3	ATC/ACC
chr22:21141300	snp_rv_seq3	GAT/GGT
chr22:21141300	func	silent,intronic
chr22:21141300	transcript	NM_000185,NM_058004
chr22:21141300	genomic	.,.
chr22:21141300	codon	.,.
chr22:21141300	protein	.,.
chr22:21141300	worst	silent
chr22:21141300	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21141300	nvar	1
chr22:21141300	var	chr22:21141300:T/C
chr22:21153335	allele_ref	G
chr22:21153335	allele_alt	A
chr22:21153335	seqdb_ref	G
chr22:21153335	snp_fw_seq3	CGT/CAT
chr22:21153335	snp_rv_seq3	ACG/ATG
chr22:21153335	func	intronic
chr22:21153335	transcript	NM_058004
chr22:21153335	genomic	.
chr22:21153335	codon	.
chr22:21153335	protein	.
chr22:21153335	worst	intronic
chr22:21153335	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21153335	nvar	1
chr22:21153335	var	chr22:21153335:G/A
chr22:21153590	allele_ref	C
chr22:21153590	allele_alt	T
chr22:21153590	seqdb_ref	C
chr22:21153590	snp_fw_seq3	CCT/CTT
chr22:21153590	snp_rv_seq3	AGG/AAG
chr22:21153590	func	intronic
chr22:21153590	transcript	NM_058004
chr22:21153590	genomic	.
chr22:21153590	codon	.
chr22:21153590	protein	.
chr22:21153590	worst	intronic
chr22:21153590	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21153590	nvar	1
chr22:21153590	var	chr22:21153590:C/T
chr22:21156239	allele_ref	C
chr22:21156239	allele_alt	T
chr22:21156239	seqdb_ref	C
chr22:21156239	snp_fw_seq3	TCG/TTG
chr22:21156239	snp_rv_seq3	CGA/CAA
chr22:21156239	func	intronic
chr22:21156239	transcript	NM_058004
chr22:21156239	genomic	.
chr22:21156239	codon	.
chr22:21156239	protein	.
chr22:21156239	worst	intronic
chr22:21156239	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21156239	nvar	1
chr22:21156239	var	chr22:21156239:C/T
chr22:21167787	allele_ref	G
chr22:21167787	allele_alt	A
chr22:21167787	seqdb_ref	G
chr22:21167787	snp_fw_seq3	AGC/AAC
chr22:21167787	snp_rv_seq3	GCT/GTT
chr22:21167787	func	silent
chr22:21167787	transcript	NM_058004
chr22:21167787	genomic	.
chr22:21167787	codon	.
chr22:21167787	protein	.
chr22:21167787	worst	silent
chr22:21167787	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21167787	nvar	1
chr22:21167787	var	chr22:21167787:G/A
chr22:21172754	allele_ref	G
chr22:21172754	allele_alt	A
chr22:21172754	seqdb_ref	G
chr22:21172754	snp_fw_seq3	CGG/CAG
chr22:21172754	snp_rv_seq3	CCG/CTG
chr22:21172754	func	intronic
chr22:21172754	transcript	NM_058004
chr22:21172754	genomic	.
chr22:21172754	codon	.
chr22:21172754	protein	.
chr22:21172754	worst	intronic
chr22:21172754	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21172754	nvar	1
chr22:21172754	var	chr22:21172754:G/A
chr22:21172778	allele_ref	G
chr22:21172778	allele_alt	A
chr22:21172778	seqdb_ref	G
chr22:21172778	snp_fw_seq3	AGT/AAT
chr22:21172778	snp_rv_seq3	ACT/ATT
chr22:21172778	func	silent
chr22:21172778	transcript	NM_058004
chr22:21172778	genomic	.
chr22:21172778	codon	.
chr22:21172778	protein	.
chr22:21172778	worst	silent
chr22:21172778	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21172778	nvar	1
chr22:21172778	var	chr22:21172778:G/A
chr22:21173902	allele_ref	G
chr22:21173902	allele_alt	C
chr22:21173902	seqdb_ref	G
chr22:21173902	snp_fw_seq3	TGC/TCC
chr22:21173902	snp_rv_seq3	GCA/GGA
chr22:21173902	func	intronic
chr22:21173902	transcript	NM_058004
chr22:21173902	genomic	.
chr22:21173902	codon	.
chr22:21173902	protein	.
chr22:21173902	worst	intronic
chr22:21173902	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21173902	nvar	1
chr22:21173902	var	chr22:21173902:G/C
chr22:21174913	allele_ref	G
chr22:21174913	allele_alt	A
chr22:21174913	seqdb_ref	G
chr22:21174913	snp_fw_seq3	AGG/AAG
chr22:21174913	snp_rv_seq3	CCT/CTT
chr22:21174913	func	intronic
chr22:21174913	transcript	NM_058004
chr22:21174913	genomic	.
chr22:21174913	codon	.
chr22:21174913	protein	.
chr22:21174913	worst	intronic
chr22:21174913	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21174913	nvar	1
chr22:21174913	var	chr22:21174913:G/A
chr22:21188961	allele_ref	G
chr22:21188961	allele_alt	T
chr22:21188961	seqdb_ref	g
chr22:21188961	snp_fw_seq3	aga/aTa
chr22:21188961	snp_rv_seq3	tct/tAt
chr22:21188961	func	intronic
chr22:21188961	transcript	NM_058004
chr22:21188961	genomic	.
chr22:21188961	codon	.
chr22:21188961	protein	.
chr22:21188961	worst	intronic
chr22:21188961	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21188961	nvar	1
chr22:21188961	var	chr22:21188961:G/T
chr22:21188964	allele_ref	T
chr22:21188964	allele_alt	C
chr22:21188964	seqdb_ref	t
chr22:21188964	snp_fw_seq3	ata/aCa
chr22:21188964	snp_rv_seq3	tat/tGt
chr22:21188964	func	intronic
chr22:21188964	transcript	NM_058004
chr22:21188964	genomic	.
chr22:21188964	codon	.
chr22:21188964	protein	.
chr22:21188964	worst	intronic
chr22:21188964	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21188964	nvar	1
chr22:21188964	var	chr22:21188964:T/C
chr22:21213380	allele_ref	C
chr22:21213380	allele_alt	T
chr22:21213380	seqdb_ref	C
chr22:21213380	snp_fw_seq3	CCG/CTG
chr22:21213380	snp_rv_seq3	CGG/CAG
chr22:21213380	func	5-UTR
chr22:21213380	transcript	NM_004782
chr22:21213380	genomic	.
chr22:21213380	codon	.
chr22:21213380	protein	.
chr22:21213380	worst	UTR5
chr22:21213380	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:21213380	nvar	1
chr22:21213380	var	chr22:21213380:C/T
chr22:21213391	allele_ref	C
chr22:21213391	allele_alt	G
chr22:21213391	seqdb_ref	C
chr22:21213391	snp_fw_seq3	GCC/GGC
chr22:21213391	snp_rv_seq3	GGC/GCC
chr22:21213391	func	5-UTR
chr22:21213391	transcript	NM_004782
chr22:21213391	genomic	.
chr22:21213391	codon	.
chr22:21213391	protein	.
chr22:21213391	worst	UTR5
chr22:21213391	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:21213391	nvar	1
chr22:21213391	var	chr22:21213391:C/G
chr22:21213416	allele_ref	A
chr22:21213416	allele_alt	G
chr22:21213416	seqdb_ref	A
chr22:21213416	snp_fw_seq3	AAA/AGA
chr22:21213416	snp_rv_seq3	TTT/TCT
chr22:21213416	func	silent
chr22:21213416	transcript	NM_004782
chr22:21213416	genomic	.
chr22:21213416	codon	.
chr22:21213416	protein	.
chr22:21213416	worst	silent
chr22:21213416	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21213416	nvar	1
chr22:21213416	var	chr22:21213416:A/G
chr22:21213470	allele_ref	T
chr22:21213470	allele_alt	A
chr22:21213470	seqdb_ref	T
chr22:21213470	snp_fw_seq3	CTT/CAT
chr22:21213470	snp_rv_seq3	AAG/ATG
chr22:21213470	func	silent
chr22:21213470	transcript	NM_004782
chr22:21213470	genomic	.
chr22:21213470	codon	.
chr22:21213470	protein	.
chr22:21213470	worst	silent
chr22:21213470	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21213470	nvar	1
chr22:21213470	var	chr22:21213470:T/A
chr22:21237751	allele_ref	A
chr22:21237751	allele_alt	T
chr22:21237751	seqdb_ref	A
chr22:21237751	snp_fw_seq3	TAA/TTA
chr22:21237751	snp_rv_seq3	TTA/TAA
chr22:21237751	func	intronic
chr22:21237751	transcript	NM_004782
chr22:21237751	genomic	.
chr22:21237751	codon	.
chr22:21237751	protein	.
chr22:21237751	worst	intronic
chr22:21237751	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21237751	nvar	1
chr22:21237751	var	chr22:21237751:A/T
chr22:21237816	allele_ref	C
chr22:21237816	allele_alt	G
chr22:21237816	seqdb_ref	C
chr22:21237816	snp_fw_seq3	CCA/CGA
chr22:21237816	snp_rv_seq3	TGG/TCG
chr22:21237816	func	missense
chr22:21237816	transcript	NM_004782
chr22:21237816	genomic	g.578C>G
chr22:21237816	codon	c.578CCA>CGA
chr22:21237816	protein	p.193P>R
chr22:21237816	worst	missense
chr22:21237816	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21237816	nvar	1
chr22:21237816	var	chr22:21237816:C/G
chr22:21237874	allele_ref	C
chr22:21237874	allele_alt	T
chr22:21237874	seqdb_ref	C
chr22:21237874	snp_fw_seq3	ACA/ATA
chr22:21237874	snp_rv_seq3	TGT/TAT
chr22:21237874	func	intronic
chr22:21237874	transcript	NM_004782
chr22:21237874	genomic	.
chr22:21237874	codon	.
chr22:21237874	protein	.
chr22:21237874	worst	intronic
chr22:21237874	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21237874	nvar	1
chr22:21237874	var	chr22:21237874:C/T
chr22:21322238	allele_ref	C
chr22:21322238	allele_alt	T
chr22:21322238	seqdb_ref	C
chr22:21322238	snp_fw_seq3	GCG/GTG
chr22:21322238	snp_rv_seq3	CGC/CAC
chr22:21322238	func	silent,silent,silent,npcRNA
chr22:21322238	transcript	NM_001018060,NM_001146288,NM_144704,NR_027464
chr22:21322238	genomic	.,.,.,.
chr22:21322238	codon	.,.,.,.
chr22:21322238	protein	.,.,.,.
chr22:21322238	worst	silent
chr22:21322238	class	mixed,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:21322238	nvar	1
chr22:21322238	var	chr22:21322238:C/T
chr22:21327589	allele_ref	C
chr22:21327589	allele_alt	T
chr22:21327589	seqdb_ref	C
chr22:21327589	snp_fw_seq3	GCC/GTC
chr22:21327589	snp_rv_seq3	GGC/GAC
chr22:21327589	func	intronic,missense,intronic,intronic
chr22:21327589	transcript	NM_001018060,NM_001146288,NM_144704,NR_027464
chr22:21327589	genomic	.,g.43C>T,.,.
chr22:21327589	codon	.,c.43CCC>TCC,.,.
chr22:21327589	protein	.,p.15P>S,.,.
chr22:21327589	worst	missense
chr22:21327589	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21327589	nvar	1
chr22:21327589	var	chr22:21327589:C/T
chr22:21327834	allele_ref	C
chr22:21327834	allele_alt	G
chr22:21327834	seqdb_ref	C
chr22:21327834	snp_fw_seq3	GCG/GGG
chr22:21327834	snp_rv_seq3	CGC/CCC
chr22:21327834	func	intronic,intronic,intronic,intronic
chr22:21327834	transcript	NM_001018060,NM_001146288,NM_144704,NR_027464
chr22:21327834	genomic	.,.,.,.
chr22:21327834	codon	.,.,.,.
chr22:21327834	protein	.,.,.,.
chr22:21327834	worst	intronic
chr22:21327834	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21327834	nvar	1
chr22:21327834	var	chr22:21327834:C/G
chr22:21328327	allele_ref	G
chr22:21328327	allele_alt	C
chr22:21328327	seqdb_ref	G
chr22:21328327	snp_fw_seq3	CGC/CCC
chr22:21328327	snp_rv_seq3	GCG/GGG
chr22:21328327	func	intronic,intronic,intronic,intronic
chr22:21328327	transcript	NM_001018060,NM_001146288,NM_144704,NR_027464
chr22:21328327	genomic	.,.,.,.
chr22:21328327	codon	.,.,.,.
chr22:21328327	protein	.,.,.,.
chr22:21328327	worst	intronic
chr22:21328327	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21328327	nvar	1
chr22:21328327	var	chr22:21328327:G/C
chr22:21329052	allele_ref	G
chr22:21329052	allele_alt	A
chr22:21329052	seqdb_ref	G
chr22:21329052	snp_fw_seq3	CGT/CAT
chr22:21329052	snp_rv_seq3	ACG/ATG
chr22:21329052	func	missense,missense,missense,npcRNA
chr22:21329052	transcript	NM_001018060,NM_001146288,NM_144704,NR_027464
chr22:21329052	genomic	g.667G>A,g.685G>A,g.667G>A,.
chr22:21329052	codon	c.667GTC>ATC,c.685GTC>ATC,c.667GTC>ATC,.
chr22:21329052	protein	p.223V>I,p.229V>I,p.223V>I,.
chr22:21329052	worst	missense
chr22:21329052	class	mixed,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:21329052	nvar	1
chr22:21329052	var	chr22:21329052:G/A
chr22:21329123	allele_ref	A
chr22:21329123	allele_alt	G
chr22:21329123	seqdb_ref	A
chr22:21329123	snp_fw_seq3	AAG/AGG
chr22:21329123	snp_rv_seq3	CTT/CCT
chr22:21329123	func	intronic,intronic,intronic,intronic
chr22:21329123	transcript	NM_001018060,NM_001146288,NM_144704,NR_027464
chr22:21329123	genomic	.,.,.,.
chr22:21329123	codon	.,.,.,.
chr22:21329123	protein	.,.,.,.
chr22:21329123	worst	intronic
chr22:21329123	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21329123	nvar	1
chr22:21329123	var	chr22:21329123:A/G
chr22:21330116	allele_ref	C
chr22:21330116	allele_alt	G
chr22:21330116	seqdb_ref	C
chr22:21330116	snp_fw_seq3	CCG/CGG
chr22:21330116	snp_rv_seq3	CGG/CCG
chr22:21330116	func	intronic,intronic,intronic,intronic
chr22:21330116	transcript	NM_001018060,NM_001146288,NM_144704,NR_027464
chr22:21330116	genomic	.,.,.,.
chr22:21330116	codon	.,.,.,.
chr22:21330116	protein	.,.,.,.
chr22:21330116	worst	intronic
chr22:21330116	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21330116	nvar	1
chr22:21330116	var	chr22:21330116:C/G
chr22:21330608	allele_ref	C
chr22:21330608	allele_alt	T
chr22:21330608	seqdb_ref	C
chr22:21330608	snp_fw_seq3	TCC/TTC
chr22:21330608	snp_rv_seq3	GGA/GAA
chr22:21330608	func	intronic,intronic,intronic,intronic
chr22:21330608	transcript	NM_001018060,NM_001146288,NM_144704,NR_027464
chr22:21330608	genomic	.,.,.,.
chr22:21330608	codon	.,.,.,.
chr22:21330608	protein	.,.,.,.
chr22:21330608	worst	intronic
chr22:21330608	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21330608	nvar	1
chr22:21330608	var	chr22:21330608:C/T
chr22:21330787	allele_ref	C
chr22:21330787	allele_alt	T
chr22:21330787	seqdb_ref	C
chr22:21330787	snp_fw_seq3	CCC/CTC
chr22:21330787	snp_rv_seq3	GGG/GAG
chr22:21330787	func	silent,silent,silent,npcRNA
chr22:21330787	transcript	NM_001018060,NM_001146288,NM_144704,NR_027464
chr22:21330787	genomic	.,.,.,.
chr22:21330787	codon	.,.,.,.
chr22:21330787	protein	.,.,.,.
chr22:21330787	worst	silent
chr22:21330787	class	mixed,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:21330787	nvar	1
chr22:21330787	var	chr22:21330787:C/T
chr22:21330800	allele_ref	G
chr22:21330800	allele_alt	A
chr22:21330800	seqdb_ref	G
chr22:21330800	snp_fw_seq3	CGT/CAT
chr22:21330800	snp_rv_seq3	ACG/ATG
chr22:21330800	func	missense,missense,missense,npcRNA
chr22:21330800	transcript	NM_001018060,NM_001146288,NM_144704,NR_027464
chr22:21330800	genomic	g.1003G>A,g.1021G>A,g.1003G>A,.
chr22:21330800	codon	c.1003GTG>ATG,c.1021GTG>ATG,c.1003GTG>ATG,.
chr22:21330800	protein	p.335V>M,p.341V>M,p.335V>M,.
chr22:21330800	worst	missense
chr22:21330800	class	mixed,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:21330800	nvar	1
chr22:21330800	var	chr22:21330800:G/A
chr22:21331043	allele_ref	A
chr22:21331043	allele_alt	T
chr22:21331043	seqdb_ref	A
chr22:21331043	snp_fw_seq3	GAG/GTG
chr22:21331043	snp_rv_seq3	CTC/CAC
chr22:21331043	func	silent,silent,silent,npcRNA
chr22:21331043	transcript	NM_001018060,NM_001146288,NM_144704,NR_027464
chr22:21331043	genomic	.,.,.,.
chr22:21331043	codon	.,.,.,.
chr22:21331043	protein	.,.,.,.
chr22:21331043	worst	silent
chr22:21331043	class	mixed,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:21331043	nvar	1
chr22:21331043	var	chr22:21331043:A/T
chr22:21331950	allele_ref	C
chr22:21331950	allele_alt	G,T
chr22:21331950	seqdb_ref	C
chr22:21331950	func	intronic,intronic,intronic,intronic
chr22:21331950	transcript	NM_001018060,NM_001146288,NM_144704,NR_027464
chr22:21331950	genomic	.,.,.,.
chr22:21331950	codon	.,.,.,.
chr22:21331950	protein	.,.,.,.
chr22:21331950	worst	intronic
chr22:21331950	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21331950	nvar	1
chr22:21331950	var	chr22:21331950:C/G,T
chr22:21333605	allele_ref	G
chr22:21333605	allele_alt	C
chr22:21333605	seqdb_ref	G
chr22:21333605	snp_fw_seq3	AGC/ACC
chr22:21333605	snp_rv_seq3	GCT/GGT
chr22:21333605	func	missense,missense,missense,npcRNA
chr22:21333605	transcript	NM_001018060,NM_001146288,NM_144704,NR_027464
chr22:21333605	genomic	g.1523G>C,g.1541G>C,g.1523G>C,.
chr22:21333605	codon	c.1523AGC>ACC,c.1541AGC>ACC,c.1523AGC>ACC,.
chr22:21333605	protein	p.508S>T,p.514S>T,p.508S>T,.
chr22:21333605	worst	missense
chr22:21333605	class	mixed,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:21333605	nvar	1
chr22:21333605	var	chr22:21333605:G/C
chr22:21333903	allele_ref	G
chr22:21333903	allele_alt	A
chr22:21333903	seqdb_ref	G
chr22:21333903	snp_fw_seq3	TGC/TAC
chr22:21333903	snp_rv_seq3	GCA/GTA
chr22:21333903	func	intronic,intronic,intronic,intronic
chr22:21333903	transcript	NM_001018060,NM_001146288,NM_144704,NR_027464
chr22:21333903	genomic	.,.,.,.
chr22:21333903	codon	.,.,.,.
chr22:21333903	protein	.,.,.,.
chr22:21333903	worst	intronic
chr22:21333903	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21333903	nvar	1
chr22:21333903	var	chr22:21333903:G/A
chr22:21334461	allele_ref	T
chr22:21334461	allele_alt	G
chr22:21334461	seqdb_ref	T
chr22:21334461	snp_fw_seq3	GTA/GGA
chr22:21334461	snp_rv_seq3	TAC/TCC
chr22:21334461	func	intronic,intronic,intronic,intronic
chr22:21334461	transcript	NM_001018060,NM_001146288,NM_144704,NR_027464
chr22:21334461	genomic	.,.,.,.
chr22:21334461	codon	.,.,.,.
chr22:21334461	protein	.,.,.,.
chr22:21334461	worst	intronic
chr22:21334461	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21334461	nvar	1
chr22:21334461	var	chr22:21334461:T/G
chr22:21335259	allele_ref	C
chr22:21335259	allele_alt	A
chr22:21335259	seqdb_ref	C
chr22:21335259	snp_fw_seq3	CCC/CAC
chr22:21335259	snp_rv_seq3	GGG/GTG
chr22:21335259	func	intronic,intronic,intronic,intronic
chr22:21335259	transcript	NM_001018060,NM_001146288,NM_144704,NR_027464
chr22:21335259	genomic	.,.,.,.
chr22:21335259	codon	.,.,.,.
chr22:21335259	protein	.,.,.,.
chr22:21335259	worst	intronic
chr22:21335259	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21335259	nvar	1
chr22:21335259	var	chr22:21335259:C/A
chr22:21337266	allele_ref	G
chr22:21337266	allele_alt	A
chr22:21337266	seqdb_ref	G
chr22:21337266	snp_fw_seq3	TGC/TAC
chr22:21337266	snp_rv_seq3	GCA/GTA
chr22:21337266	func	intronic
chr22:21337266	transcript	NM_006767
chr22:21337266	genomic	.
chr22:21337266	codon	.
chr22:21337266	protein	.
chr22:21337266	worst	intronic
chr22:21337266	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21337266	nvar	1
chr22:21337266	var	chr22:21337266:G/A
chr22:21337276	allele_ref	A
chr22:21337276	allele_alt	G
chr22:21337276	seqdb_ref	A
chr22:21337276	snp_fw_seq3	GAG/GGG
chr22:21337276	snp_rv_seq3	CTC/CCC
chr22:21337276	func	intronic
chr22:21337276	transcript	NM_006767
chr22:21337276	genomic	.
chr22:21337276	codon	.
chr22:21337276	protein	.
chr22:21337276	worst	intronic
chr22:21337276	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21337276	nvar	1
chr22:21337276	var	chr22:21337276:A/G
chr22:21337325	allele_ref	G
chr22:21337325	allele_alt	A
chr22:21337325	seqdb_ref	G
chr22:21337325	snp_fw_seq3	AGC/AAC
chr22:21337325	snp_rv_seq3	GCT/GTT
chr22:21337325	func	silent
chr22:21337325	transcript	NM_006767
chr22:21337325	genomic	.
chr22:21337325	codon	.
chr22:21337325	protein	.
chr22:21337325	worst	silent
chr22:21337325	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21337325	nvar	1
chr22:21337325	var	chr22:21337325:G/A
chr22:21337415	allele_ref	C
chr22:21337415	allele_alt	G
chr22:21337415	seqdb_ref	C
chr22:21337415	snp_fw_seq3	ACG/AGG
chr22:21337415	snp_rv_seq3	CGT/CCT
chr22:21337415	func	intronic
chr22:21337415	transcript	NM_006767
chr22:21337415	genomic	.
chr22:21337415	codon	.
chr22:21337415	protein	.
chr22:21337415	worst	intronic
chr22:21337415	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21337415	nvar	1
chr22:21337415	var	chr22:21337415:C/G
chr22:21340088	allele_ref	T
chr22:21340088	allele_alt	C
chr22:21340088	seqdb_ref	T
chr22:21340088	snp_fw_seq3	GTA/GCA
chr22:21340088	snp_rv_seq3	TAC/TGC
chr22:21340088	func	intronic
chr22:21340088	transcript	NM_006767
chr22:21340088	genomic	.
chr22:21340088	codon	.
chr22:21340088	protein	.
chr22:21340088	worst	intronic
chr22:21340088	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21340088	nvar	1
chr22:21340088	var	chr22:21340088:T/C
chr22:21343995	allele_ref	C
chr22:21343995	allele_alt	T
chr22:21343995	seqdb_ref	c
chr22:21343995	snp_fw_seq3	gcg/gTg
chr22:21343995	snp_rv_seq3	cgc/cAc
chr22:21343995	func	intronic
chr22:21343995	transcript	NM_006767
chr22:21343995	genomic	.
chr22:21343995	codon	.
chr22:21343995	protein	.
chr22:21343995	worst	intronic
chr22:21343995	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21343995	nvar	1
chr22:21343995	var	chr22:21343995:C/T
chr22:21344002	allele_ref	A
chr22:21344002	allele_alt	G
chr22:21344002	seqdb_ref	a
chr22:21344002	snp_fw_seq3	tag/tGg
chr22:21344002	snp_rv_seq3	cta/cCa
chr22:21344002	func	intronic
chr22:21344002	transcript	NM_006767
chr22:21344002	genomic	.
chr22:21344002	codon	.
chr22:21344002	protein	.
chr22:21344002	worst	intronic
chr22:21344002	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21344002	nvar	1
chr22:21344002	var	chr22:21344002:A/G
chr22:21344848	allele_ref	C
chr22:21344848	allele_alt	T
chr22:21344848	seqdb_ref	C
chr22:21344848	snp_fw_seq3	ACG/ATG
chr22:21344848	snp_rv_seq3	CGT/CAT
chr22:21344848	func	intronic
chr22:21344848	transcript	NM_006767
chr22:21344848	genomic	.
chr22:21344848	codon	.
chr22:21344848	protein	.
chr22:21344848	worst	intronic
chr22:21344848	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21344848	nvar	1
chr22:21344848	var	chr22:21344848:C/T
chr22:21345980	allele_ref	C
chr22:21345980	allele_alt	T
chr22:21345980	seqdb_ref	C
chr22:21345980	snp_fw_seq3	ACG/ATG
chr22:21345980	snp_rv_seq3	CGT/CAT
chr22:21345980	func	silent
chr22:21345980	transcript	NM_006767
chr22:21345980	genomic	.
chr22:21345980	codon	.
chr22:21345980	protein	.
chr22:21345980	worst	silent
chr22:21345980	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21345980	nvar	1
chr22:21345980	var	chr22:21345980:C/T
chr22:21346485	allele_ref	T
chr22:21346485	allele_alt	C
chr22:21346485	seqdb_ref	T
chr22:21346485	snp_fw_seq3	ATG/ACG
chr22:21346485	snp_rv_seq3	CAT/CGT
chr22:21346485	func	intronic
chr22:21346485	transcript	NM_006767
chr22:21346485	genomic	.
chr22:21346485	codon	.
chr22:21346485	protein	.
chr22:21346485	worst	intronic
chr22:21346485	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21346485	nvar	1
chr22:21346485	var	chr22:21346485:T/C
chr22:21347194	allele_ref	G
chr22:21347194	allele_alt	T
chr22:21347194	seqdb_ref	G
chr22:21347194	snp_fw_seq3	GGT/GTT
chr22:21347194	snp_rv_seq3	ACC/AAC
chr22:21347194	func	intronic,splice-donor-in2
chr22:21347194	annot_details	DIST=1,NMD=0,OFPTV=1,EXIN=11,ISEQ=GTGTGG,ESEQ=TTCCAG,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS11+1G>T
chr22:21347194	transcript	NM_006767,NM_006767
chr22:21347194	genomic	.,.
chr22:21347194	codon	.,.
chr22:21347194	protein	.,.
chr22:21347194	worst	esplice
chr22:21347194	class	esplice,NON=0,SL=0,MIS=0,SYN=0,ESPL=1,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21347194	nvar	1
chr22:21347194	var	chr22:21347194:G/T
chr22:21348084	allele_ref	T
chr22:21348084	allele_alt	C
chr22:21348084	seqdb_ref	T
chr22:21348084	snp_fw_seq3	CTG/CCG
chr22:21348084	snp_rv_seq3	CAG/CGG
chr22:21348084	func	intronic
chr22:21348084	transcript	NM_006767
chr22:21348084	genomic	.
chr22:21348084	codon	.
chr22:21348084	protein	.
chr22:21348084	worst	intronic
chr22:21348084	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21348084	nvar	1
chr22:21348084	var	chr22:21348084:T/C
chr22:21348348	allele_ref	G
chr22:21348348	allele_alt	T
chr22:21348348	seqdb_ref	G
chr22:21348348	snp_fw_seq3	TGC/TTC
chr22:21348348	snp_rv_seq3	GCA/GAA
chr22:21348348	func	intronic
chr22:21348348	transcript	NM_006767
chr22:21348348	genomic	.
chr22:21348348	codon	.
chr22:21348348	protein	.
chr22:21348348	worst	intronic
chr22:21348348	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21348348	nvar	1
chr22:21348348	var	chr22:21348348:G/T
chr22:21348914	allele_ref	C
chr22:21348914	allele_alt	T
chr22:21348914	seqdb_ref	C
chr22:21348914	snp_fw_seq3	GCC/GTC
chr22:21348914	snp_rv_seq3	GGC/GAC
chr22:21348914	func	silent
chr22:21348914	transcript	NM_006767
chr22:21348914	genomic	.
chr22:21348914	codon	.
chr22:21348914	protein	.
chr22:21348914	worst	silent
chr22:21348914	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21348914	nvar	1
chr22:21348914	var	chr22:21348914:C/T
chr22:21349037	allele_ref	A
chr22:21349037	allele_alt	G
chr22:21349037	seqdb_ref	A
chr22:21349037	snp_fw_seq3	CAA/CGA
chr22:21349037	snp_rv_seq3	TTG/TCG
chr22:21349037	func	intronic
chr22:21349037	transcript	NM_006767
chr22:21349037	genomic	.
chr22:21349037	codon	.
chr22:21349037	protein	.
chr22:21349037	worst	intronic
chr22:21349037	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21349037	nvar	1
chr22:21349037	var	chr22:21349037:A/G
chr22:21350008	allele_ref	C
chr22:21350008	allele_alt	T
chr22:21350008	seqdb_ref	C
chr22:21350008	snp_fw_seq3	ACC/ATC
chr22:21350008	snp_rv_seq3	GGT/GAT
chr22:21350008	func	intronic
chr22:21350008	transcript	NM_006767
chr22:21350008	genomic	.
chr22:21350008	codon	.
chr22:21350008	protein	.
chr22:21350008	worst	intronic
chr22:21350008	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21350008	nvar	1
chr22:21350008	var	chr22:21350008:C/T
chr22:21350054	allele_ref	C
chr22:21350054	allele_alt	T
chr22:21350054	seqdb_ref	C
chr22:21350054	snp_fw_seq3	ACA/ATA
chr22:21350054	snp_rv_seq3	TGT/TAT
chr22:21350054	func	silent
chr22:21350054	transcript	NM_006767
chr22:21350054	genomic	.
chr22:21350054	codon	.
chr22:21350054	protein	.
chr22:21350054	worst	silent
chr22:21350054	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21350054	nvar	1
chr22:21350054	var	chr22:21350054:C/T
chr22:21350936	allele_ref	G
chr22:21350936	allele_alt	A
chr22:21350936	seqdb_ref	G
chr22:21350936	snp_fw_seq3	GGG/GAG
chr22:21350936	snp_rv_seq3	CCC/CTC
chr22:21350936	func	intronic
chr22:21350936	transcript	NM_006767
chr22:21350936	genomic	.
chr22:21350936	codon	.
chr22:21350936	protein	.
chr22:21350936	worst	intronic
chr22:21350936	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21350936	nvar	1
chr22:21350936	var	chr22:21350936:G/A
chr22:21350947	allele_ref	A
chr22:21350947	allele_alt	G
chr22:21350947	seqdb_ref	A
chr22:21350947	snp_fw_seq3	GAC/GGC
chr22:21350947	snp_rv_seq3	GTC/GCC
chr22:21350947	func	intronic
chr22:21350947	transcript	NM_006767
chr22:21350947	genomic	.
chr22:21350947	codon	.
chr22:21350947	protein	.
chr22:21350947	worst	intronic
chr22:21350947	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21350947	nvar	1
chr22:21350947	var	chr22:21350947:A/G
chr22:21351679	allele_ref	G
chr22:21351679	allele_alt	A
chr22:21351679	seqdb_ref	G
chr22:21351679	snp_fw_seq3	TGC/TAC
chr22:21351679	snp_rv_seq3	GCA/GTA
chr22:21351679	func	3-UTR
chr22:21351679	transcript	NM_006767
chr22:21351679	genomic	.
chr22:21351679	codon	.
chr22:21351679	protein	.
chr22:21351679	worst	UTR3
chr22:21351679	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:21351679	nvar	1
chr22:21351679	var	chr22:21351679:G/A
chr22:21354151	allele_ref	G
chr22:21354151	allele_alt	A
chr22:21354151	seqdb_ref	G
chr22:21354151	snp_fw_seq3	CGG/CAG
chr22:21354151	snp_rv_seq3	CCG/CTG
chr22:21354151	func	3-UTR,3-UTR
chr22:21354151	transcript	NM_001008695,NM_030573
chr22:21354151	genomic	.,.
chr22:21354151	codon	.,.
chr22:21354151	protein	.,.
chr22:21354151	worst	UTR3
chr22:21354151	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:21354151	nvar	1
chr22:21354151	var	chr22:21354151:G/A
chr22:21354152	allele_ref	G
chr22:21354152	allele_alt	A
chr22:21354152	seqdb_ref	G
chr22:21354152	snp_fw_seq3	GGT/GAT
chr22:21354152	snp_rv_seq3	ACC/ATC
chr22:21354152	func	3-UTR,3-UTR
chr22:21354152	transcript	NM_001008695,NM_030573
chr22:21354152	genomic	.,.
chr22:21354152	codon	.,.
chr22:21354152	protein	.,.
chr22:21354152	worst	UTR3
chr22:21354152	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:21354152	nvar	1
chr22:21354152	var	chr22:21354152:G/A
chr22:21354158	allele_ref	C
chr22:21354158	allele_alt	G
chr22:21354158	seqdb_ref	C
chr22:21354158	snp_fw_seq3	TCC/TGC
chr22:21354158	snp_rv_seq3	GGA/GCA
chr22:21354158	func	3-UTR,3-UTR
chr22:21354158	transcript	NM_001008695,NM_030573
chr22:21354158	genomic	.,.
chr22:21354158	codon	.,.
chr22:21354158	protein	.,.
chr22:21354158	worst	UTR3
chr22:21354158	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:21354158	nvar	1
chr22:21354158	var	chr22:21354158:C/G
chr22:21354487	allele_ref	G
chr22:21354487	allele_alt	C
chr22:21354487	seqdb_ref	G
chr22:21354487	snp_fw_seq3	CGA/CCA
chr22:21354487	snp_rv_seq3	TCG/TGG
chr22:21354487	func	silent,silent
chr22:21354487	transcript	NM_001008695,NM_030573
chr22:21354487	genomic	.,.
chr22:21354487	codon	.,.
chr22:21354487	protein	.,.
chr22:21354487	worst	silent
chr22:21354487	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21354487	nvar	1
chr22:21354487	var	chr22:21354487:G/C
chr22:21354970	allele_ref	C
chr22:21354970	allele_alt	G
chr22:21354970	seqdb_ref	C
chr22:21354970	snp_fw_seq3	GCG/GGG
chr22:21354970	snp_rv_seq3	CGC/CCC
chr22:21354970	func	missense,missense
chr22:21354970	transcript	NM_001008695,NM_030573
chr22:21354970	genomic	g.343C>G,g.343C>G
chr22:21354970	codon	c.343GCT>CCT,c.343GCT>CCT
chr22:21354970	protein	p.115A>P,p.115A>P
chr22:21354970	worst	missense
chr22:21354970	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21354970	nvar	1
chr22:21354970	var	chr22:21354970:C/G
chr22:21355607	allele_ref	G
chr22:21355607	allele_alt	A
chr22:21355607	seqdb_ref	G
chr22:21355607	snp_fw_seq3	CGG/CAG
chr22:21355607	snp_rv_seq3	CCG/CTG
chr22:21355607	func	silent,silent
chr22:21355607	transcript	NM_001008695,NM_030573
chr22:21355607	genomic	.,.
chr22:21355607	codon	.,.
chr22:21355607	protein	.,.
chr22:21355607	worst	silent
chr22:21355607	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21355607	nvar	1
chr22:21355607	var	chr22:21355607:G/A
chr22:21369611	allele_ref	G
chr22:21369611	allele_alt	A
chr22:21369611	seqdb_ref	G
chr22:21369611	snp_fw_seq3	CGT/CAT
chr22:21369611	snp_rv_seq3	ACG/ATG
chr22:21369611	func	intronic,missense
chr22:21369611	transcript	NM_001159554,NM_005446
chr22:21369611	genomic	.,g.148G>A
chr22:21369611	codon	.,c.148GTG>ATG
chr22:21369611	protein	.,p.50V>M
chr22:21369611	worst	missense
chr22:21369611	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21369611	nvar	1
chr22:21369611	var	chr22:21369611:G/A
chr22:21369676	allele_ref	G
chr22:21369676	allele_alt	C
chr22:21369676	seqdb_ref	G
chr22:21369676	snp_fw_seq3	TGG/TCG
chr22:21369676	snp_rv_seq3	CCA/CGA
chr22:21369676	func	intronic,intronic
chr22:21369676	transcript	NM_001159554,NM_005446
chr22:21369676	genomic	.,.
chr22:21369676	codon	.,.
chr22:21369676	protein	.,.
chr22:21369676	worst	intronic
chr22:21369676	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21369676	nvar	1
chr22:21369676	var	chr22:21369676:G/C
chr22:21372374	allele_ref	G
chr22:21372374	allele_alt	A
chr22:21372374	seqdb_ref	G
chr22:21372374	snp_fw_seq3	AGC/AAC
chr22:21372374	snp_rv_seq3	GCT/GTT
chr22:21372374	func	intronic,intronic
chr22:21372374	transcript	NM_001159554,NM_005446
chr22:21372374	genomic	.,.
chr22:21372374	codon	.,.
chr22:21372374	protein	.,.
chr22:21372374	worst	intronic
chr22:21372374	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21372374	nvar	1
chr22:21372374	var	chr22:21372374:G/A
chr22:21377036	allele_ref	C
chr22:21377036	allele_alt	T
chr22:21377036	seqdb_ref	C
chr22:21377036	snp_fw_seq3	GCC/GTC
chr22:21377036	snp_rv_seq3	GGC/GAC
chr22:21377036	func	silent,splice,silent,splice
chr22:21377036	annot_details	DIST=-4,NMD=0,OFPTV=0,EXIN=4,ISEQ=GTAACT,ESEQ=GCCACG,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS4+-4C>T,DIST=-4,NMD=0,OFPTV=1,EXIN=4,ISEQ=GTAACT,ESEQ=GCCACG,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS4+-4C>T
chr22:21377036	transcript	NM_001159554,NM_001159554,NM_005446,NM_005446
chr22:21377036	genomic	.,.,.,.
chr22:21377036	codon	.,.,.,.
chr22:21377036	protein	.,.,.,.
chr22:21377036	worst	splice
chr22:21377036	class	mixed,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21377036	nvar	1
chr22:21377036	var	chr22:21377036:C/T
chr22:21377071	allele_ref	C
chr22:21377071	allele_alt	T
chr22:21377071	seqdb_ref	C
chr22:21377071	snp_fw_seq3	CCA/CTA
chr22:21377071	snp_rv_seq3	TGG/TAG
chr22:21377071	func	intronic,intronic
chr22:21377071	transcript	NM_001159554,NM_005446
chr22:21377071	genomic	.,.
chr22:21377071	codon	.,.
chr22:21377071	protein	.,.
chr22:21377071	worst	intronic
chr22:21377071	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21377071	nvar	1
chr22:21377071	var	chr22:21377071:C/T
chr22:21377191	allele_ref	C
chr22:21377191	allele_alt	T
chr22:21377191	seqdb_ref	C
chr22:21377191	snp_fw_seq3	GCA/GTA
chr22:21377191	snp_rv_seq3	TGC/TAC
chr22:21377191	func	intronic,intronic
chr22:21377191	transcript	NM_001159554,NM_005446
chr22:21377191	genomic	.,.
chr22:21377191	codon	.,.
chr22:21377191	protein	.,.
chr22:21377191	worst	intronic
chr22:21377191	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21377191	nvar	1
chr22:21377191	var	chr22:21377191:C/T
chr22:21377220	allele_ref	T
chr22:21377220	allele_alt	C
chr22:21377220	seqdb_ref	T
chr22:21377220	snp_fw_seq3	TTT/TCT
chr22:21377220	snp_rv_seq3	AAA/AGA
chr22:21377220	func	intronic,intronic
chr22:21377220	transcript	NM_001159554,NM_005446
chr22:21377220	genomic	.,.
chr22:21377220	codon	.,.
chr22:21377220	protein	.,.
chr22:21377220	worst	intronic
chr22:21377220	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21377220	nvar	1
chr22:21377220	var	chr22:21377220:T/C
chr22:21377301	allele_ref	C
chr22:21377301	allele_alt	A
chr22:21377301	seqdb_ref	C
chr22:21377301	snp_fw_seq3	CCG/CAG
chr22:21377301	snp_rv_seq3	CGG/CTG
chr22:21377301	func	silent,silent
chr22:21377301	transcript	NM_001159554,NM_005446
chr22:21377301	genomic	.,.
chr22:21377301	codon	.,.
chr22:21377301	protein	.,.
chr22:21377301	worst	silent
chr22:21377301	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21377301	nvar	1
chr22:21377301	var	chr22:21377301:C/A
chr22:21377334	allele_ref	C
chr22:21377334	allele_alt	T
chr22:21377334	seqdb_ref	C
chr22:21377334	snp_fw_seq3	CCC/CTC
chr22:21377334	snp_rv_seq3	GGG/GAG
chr22:21377334	func	intronic,intronic
chr22:21377334	transcript	NM_001159554,NM_005446
chr22:21377334	genomic	.,.
chr22:21377334	codon	.,.
chr22:21377334	protein	.,.
chr22:21377334	worst	intronic
chr22:21377334	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21377334	nvar	1
chr22:21377334	var	chr22:21377334:C/T
chr22:21377643	allele_ref	G
chr22:21377643	allele_alt	A
chr22:21377643	seqdb_ref	G
chr22:21377643	snp_fw_seq3	CGT/CAT
chr22:21377643	snp_rv_seq3	ACG/ATG
chr22:21377643	func	missense,missense
chr22:21377643	transcript	NM_001159554,NM_005446
chr22:21377643	genomic	g.640G>A,g.718G>A
chr22:21377643	codon	c.640GTG>ATG,c.718GTG>ATG
chr22:21377643	protein	p.214V>M,p.240V>M
chr22:21377643	worst	missense
chr22:21377643	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21377643	nvar	1
chr22:21377643	var	chr22:21377643:G/A
chr22:21377953	allele_ref	C
chr22:21377953	allele_alt	T
chr22:21377953	seqdb_ref	C
chr22:21377953	snp_fw_seq3	CCT/CTT
chr22:21377953	snp_rv_seq3	AGG/AAG
chr22:21377953	func	intronic,intronic
chr22:21377953	transcript	NM_001159554,NM_005446
chr22:21377953	genomic	.,.
chr22:21377953	codon	.,.
chr22:21377953	protein	.,.
chr22:21377953	worst	intronic
chr22:21377953	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21377953	nvar	1
chr22:21377953	var	chr22:21377953:C/T
chr22:21380064	allele_ref	G
chr22:21380064	allele_alt	A
chr22:21380064	seqdb_ref	G
chr22:21380064	snp_fw_seq3	AGG/AAG
chr22:21380064	snp_rv_seq3	CCT/CTT
chr22:21380064	func	intronic,intronic
chr22:21380064	transcript	NM_001159554,NM_005446
chr22:21380064	genomic	.,.
chr22:21380064	codon	.,.
chr22:21380064	protein	.,.
chr22:21380064	worst	intronic
chr22:21380064	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21380064	nvar	1
chr22:21380064	var	chr22:21380064:G/A
chr22:21383312	allele_ref	G
chr22:21383312	allele_alt	A
chr22:21383312	seqdb_ref	G
chr22:21383312	snp_fw_seq3	TGT/TAT
chr22:21383312	snp_rv_seq3	ACA/ATA
chr22:21383312	func	3-UTR
chr22:21383312	transcript	NM_004173
chr22:21383312	genomic	.
chr22:21383312	codon	.
chr22:21383312	protein	.
chr22:21383312	worst	UTR3
chr22:21383312	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:21383312	nvar	1
chr22:21383312	var	chr22:21383312:G/A
chr22:21383604	allele_ref	C
chr22:21383604	allele_alt	T
chr22:21383604	seqdb_ref	C
chr22:21383604	snp_fw_seq3	TCC/TTC
chr22:21383604	snp_rv_seq3	GGA/GAA
chr22:21383604	func	intronic
chr22:21383604	transcript	NM_004173
chr22:21383604	genomic	.
chr22:21383604	codon	.
chr22:21383604	protein	.
chr22:21383604	worst	intronic
chr22:21383604	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21383604	nvar	1
chr22:21383604	var	chr22:21383604:C/T
chr22:21384017	allele_ref	G
chr22:21384017	allele_alt	T
chr22:21384017	seqdb_ref	G
chr22:21384017	snp_fw_seq3	CGA/CTA
chr22:21384017	snp_rv_seq3	TCG/TAG
chr22:21384017	func	silent
chr22:21384017	transcript	NM_004173
chr22:21384017	genomic	.
chr22:21384017	codon	.
chr22:21384017	protein	.
chr22:21384017	worst	silent
chr22:21384017	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21384017	nvar	1
chr22:21384017	var	chr22:21384017:G/T
chr22:21384374	allele_ref	A
chr22:21384374	allele_alt	T
chr22:21384374	seqdb_ref	A
chr22:21384374	snp_fw_seq3	GAC/GTC
chr22:21384374	snp_rv_seq3	GTC/GAC
chr22:21384374	func	missense
chr22:21384374	transcript	NM_004173
chr22:21384374	genomic	g.1249A>T
chr22:21384374	codon	c.1249TCT>ACT
chr22:21384374	protein	p.417S>T
chr22:21384374	worst	missense
chr22:21384374	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21384374	nvar	1
chr22:21384374	var	chr22:21384374:A/T
chr22:21384516	allele_ref	C
chr22:21384516	allele_alt	T
chr22:21384516	seqdb_ref	C
chr22:21384516	snp_fw_seq3	CCG/CTG
chr22:21384516	snp_rv_seq3	CGG/CAG
chr22:21384516	func	silent
chr22:21384516	transcript	NM_004173
chr22:21384516	genomic	.
chr22:21384516	codon	.
chr22:21384516	protein	.
chr22:21384516	worst	silent
chr22:21384516	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21384516	nvar	1
chr22:21384516	var	chr22:21384516:C/T
chr22:21384532	allele_ref	G
chr22:21384532	allele_alt	T
chr22:21384532	seqdb_ref	G
chr22:21384532	snp_fw_seq3	TGT/TTT
chr22:21384532	snp_rv_seq3	ACA/AAA
chr22:21384532	func	missense
chr22:21384532	transcript	NM_004173
chr22:21384532	genomic	g.1091G>T
chr22:21384532	codon	c.1091ACA>AAA
chr22:21384532	protein	p.364T>K
chr22:21384532	worst	missense
chr22:21384532	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21384532	nvar	1
chr22:21384532	var	chr22:21384532:G/T
chr22:21384578	allele_ref	C
chr22:21384578	allele_alt	T
chr22:21384578	seqdb_ref	C
chr22:21384578	snp_fw_seq3	GCG/GTG
chr22:21384578	snp_rv_seq3	CGC/CAC
chr22:21384578	func	missense
chr22:21384578	transcript	NM_004173
chr22:21384578	genomic	g.1045C>T
chr22:21384578	codon	c.1045GCC>ACC
chr22:21384578	protein	p.349A>T
chr22:21384578	worst	missense
chr22:21384578	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21384578	nvar	1
chr22:21384578	var	chr22:21384578:C/T
chr22:21385196	allele_ref	G
chr22:21385196	allele_alt	A
chr22:21385196	seqdb_ref	G
chr22:21385196	snp_fw_seq3	AGT/AAT
chr22:21385196	snp_rv_seq3	ACT/ATT
chr22:21385196	func	silent
chr22:21385196	transcript	NM_004173
chr22:21385196	genomic	.
chr22:21385196	codon	.
chr22:21385196	protein	.
chr22:21385196	worst	silent
chr22:21385196	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21385196	nvar	1
chr22:21385196	var	chr22:21385196:G/A
chr22:21385277	allele_ref	C
chr22:21385277	allele_alt	T
chr22:21385277	seqdb_ref	C
chr22:21385277	snp_fw_seq3	GCG/GTG
chr22:21385277	snp_rv_seq3	CGC/CAC
chr22:21385277	func	silent
chr22:21385277	transcript	NM_004173
chr22:21385277	genomic	.
chr22:21385277	codon	.
chr22:21385277	protein	.
chr22:21385277	worst	silent
chr22:21385277	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21385277	nvar	1
chr22:21385277	var	chr22:21385277:C/T
chr22:21385427	allele_ref	G
chr22:21385427	allele_alt	C
chr22:21385427	seqdb_ref	G
chr22:21385427	snp_fw_seq3	CGT/CCT
chr22:21385427	snp_rv_seq3	ACG/AGG
chr22:21385427	func	missense
chr22:21385427	transcript	NM_004173
chr22:21385427	genomic	g.675G>C
chr22:21385427	codon	c.675GAC>GAG
chr22:21385427	protein	p.225D>E
chr22:21385427	worst	missense
chr22:21385427	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21385427	nvar	1
chr22:21385427	var	chr22:21385427:G/C
chr22:21385843	allele_ref	G
chr22:21385843	allele_alt	A
chr22:21385843	seqdb_ref	G
chr22:21385843	snp_fw_seq3	AGG/AAG
chr22:21385843	snp_rv_seq3	CCT/CTT
chr22:21385843	func	silent
chr22:21385843	transcript	NM_004173
chr22:21385843	genomic	.
chr22:21385843	codon	.
chr22:21385843	protein	.
chr22:21385843	worst	silent
chr22:21385843	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21385843	nvar	1
chr22:21385843	var	chr22:21385843:G/A
chr22:21385919	allele_ref	G
chr22:21385919	allele_alt	A
chr22:21385919	seqdb_ref	G
chr22:21385919	snp_fw_seq3	CGG/CAG
chr22:21385919	snp_rv_seq3	CCG/CTG
chr22:21385919	func	silent
chr22:21385919	transcript	NM_004173
chr22:21385919	genomic	.
chr22:21385919	codon	.
chr22:21385919	protein	.
chr22:21385919	worst	silent
chr22:21385919	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21385919	nvar	1
chr22:21385919	var	chr22:21385919:G/A
chr22:21385961	allele_ref	C
chr22:21385961	allele_alt	T
chr22:21385961	seqdb_ref	C
chr22:21385961	snp_fw_seq3	CCA/CTA
chr22:21385961	snp_rv_seq3	TGG/TAG
chr22:21385961	func	silent
chr22:21385961	transcript	NM_004173
chr22:21385961	genomic	.
chr22:21385961	codon	.
chr22:21385961	protein	.
chr22:21385961	worst	silent
chr22:21385961	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21385961	nvar	1
chr22:21385961	var	chr22:21385961:C/T
chr22:21385985	allele_ref	C
chr22:21385985	allele_alt	T
chr22:21385985	seqdb_ref	C
chr22:21385985	snp_fw_seq3	GCG/GTG
chr22:21385985	snp_rv_seq3	CGC/CAC
chr22:21385985	func	silent
chr22:21385985	transcript	NM_004173
chr22:21385985	genomic	.
chr22:21385985	codon	.
chr22:21385985	protein	.
chr22:21385985	worst	silent
chr22:21385985	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21385985	nvar	1
chr22:21385985	var	chr22:21385985:C/T
chr22:21386019	allele_ref	G
chr22:21386019	allele_alt	A
chr22:21386019	seqdb_ref	G
chr22:21386019	snp_fw_seq3	GGT/GAT
chr22:21386019	snp_rv_seq3	ACC/ATC
chr22:21386019	func	missense
chr22:21386019	transcript	NM_004173
chr22:21386019	genomic	g.83G>A
chr22:21386019	codon	c.83ACC>ATC
chr22:21386019	protein	p.28T>I
chr22:21386019	worst	missense
chr22:21386019	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21386019	nvar	1
chr22:21386019	var	chr22:21386019:G/A
chr22:21386079	allele_ref	A
chr22:21386079	allele_alt	G
chr22:21386079	seqdb_ref	A
chr22:21386079	snp_fw_seq3	AAT/AGT
chr22:21386079	snp_rv_seq3	ATT/ACT
chr22:21386079	func	missense
chr22:21386079	transcript	NM_004173
chr22:21386079	genomic	g.23A>G
chr22:21386079	codon	c.23ATT>ACT
chr22:21386079	protein	p.8I>T
chr22:21386079	worst	missense
chr22:21386079	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21386079	nvar	1
chr22:21386079	var	chr22:21386079:A/G
chr22:21799232	allele_ref	C
chr22:21799232	allele_alt	T
chr22:21799232	seqdb_ref	C
chr22:21799232	snp_fw_seq3	GCG/GTG
chr22:21799232	snp_rv_seq3	CGC/CAC
chr22:21799232	func	silent
chr22:21799232	transcript	NM_015094
chr22:21799232	genomic	.
chr22:21799232	codon	.
chr22:21799232	protein	.
chr22:21799232	worst	silent
chr22:21799232	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21799232	nvar	1
chr22:21799232	var	chr22:21799232:C/T
chr22:21799889	allele_ref	C
chr22:21799889	allele_alt	T
chr22:21799889	seqdb_ref	C
chr22:21799889	snp_fw_seq3	ACG/ATG
chr22:21799889	snp_rv_seq3	CGT/CAT
chr22:21799889	func	silent
chr22:21799889	transcript	NM_015094
chr22:21799889	genomic	.
chr22:21799889	codon	.
chr22:21799889	protein	.
chr22:21799889	worst	silent
chr22:21799889	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21799889	nvar	1
chr22:21799889	var	chr22:21799889:C/T
chr22:21799890	allele_ref	G
chr22:21799890	allele_alt	A
chr22:21799890	seqdb_ref	G
chr22:21799890	snp_fw_seq3	CGG/CAG
chr22:21799890	snp_rv_seq3	CCG/CTG
chr22:21799890	func	missense
chr22:21799890	transcript	NM_015094
chr22:21799890	genomic	g.706G>A
chr22:21799890	codon	c.706GGG>AGG
chr22:21799890	protein	p.236G>R
chr22:21799890	worst	missense
chr22:21799890	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21799890	nvar	1
chr22:21799890	var	chr22:21799890:G/A
chr22:21800042	allele_ref	T
chr22:21800042	allele_alt	C,A
chr22:21800042	seqdb_ref	T
chr22:21800042	func	silent
chr22:21800042	transcript	NM_015094
chr22:21800042	genomic	.
chr22:21800042	codon	.
chr22:21800042	protein	.
chr22:21800042	worst	silent
chr22:21800042	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21800042	nvar	1
chr22:21800042	var	chr22:21800042:T/C,A
chr22:21800444	allele_ref	T
chr22:21800444	allele_alt	C
chr22:21800444	seqdb_ref	T
chr22:21800444	snp_fw_seq3	ATG/ACG
chr22:21800444	snp_rv_seq3	CAT/CGT
chr22:21800444	func	silent
chr22:21800444	transcript	NM_015094
chr22:21800444	genomic	.
chr22:21800444	codon	.
chr22:21800444	protein	.
chr22:21800444	worst	silent
chr22:21800444	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21800444	nvar	1
chr22:21800444	var	chr22:21800444:T/C
chr22:21965298	allele_ref	C
chr22:21965298	allele_alt	G
chr22:21965298	seqdb_ref	C
chr22:21965298	snp_fw_seq3	CCG/CGG
chr22:21965298	snp_rv_seq3	CGG/CCG
chr22:21965298	func	silent,silent,silent,npcRNA,npcRNA
chr22:21965298	transcript	NM_001256355,NM_001256356,NM_003347,NR_028436,NR_046082
chr22:21965298	genomic	.,.,.,.,.
chr22:21965298	codon	.,.,.,.,.
chr22:21965298	protein	.,.,.,.,.
chr22:21965298	worst	silent
chr22:21965298	class	mixed,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:21965298	nvar	1
chr22:21965298	var	chr22:21965298:C/G
chr22:21982809	allele_ref	G
chr22:21982809	allele_alt	T
chr22:21982809	seqdb_ref	G
chr22:21982809	snp_fw_seq3	CGC/CTC
chr22:21982809	snp_rv_seq3	GCG/GAG
chr22:21982809	func	silent
chr22:21982809	transcript	NM_001017964
chr22:21982809	genomic	.
chr22:21982809	codon	.
chr22:21982809	protein	.
chr22:21982809	worst	silent
chr22:21982809	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21982809	nvar	1
chr22:21982809	var	chr22:21982809:G/T
chr22:21982892	allele_ref	C
chr22:21982892	allele_alt	T
chr22:21982892	seqdb_ref	C
chr22:21982892	snp_fw_seq3	GCG/GTG
chr22:21982892	snp_rv_seq3	CGC/CAC
chr22:21982892	func	missense
chr22:21982892	transcript	NM_001017964
chr22:21982892	genomic	g.787C>T
chr22:21982892	codon	c.787GCT>ACT
chr22:21982892	protein	p.263A>T
chr22:21982892	worst	missense
chr22:21982892	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21982892	nvar	1
chr22:21982892	var	chr22:21982892:C/T
chr22:21983105	allele_ref	A
chr22:21983105	allele_alt	C
chr22:21983105	seqdb_ref	A
chr22:21983105	snp_fw_seq3	GAC/GCC
chr22:21983105	snp_rv_seq3	GTC/GGC
chr22:21983105	func	intronic
chr22:21983105	transcript	NM_001017964
chr22:21983105	genomic	.
chr22:21983105	codon	.
chr22:21983105	protein	.
chr22:21983105	worst	intronic
chr22:21983105	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21983105	nvar	1
chr22:21983105	var	chr22:21983105:A/C
chr22:21983260	allele_ref	A
chr22:21983260	allele_alt	G
chr22:21983260	seqdb_ref	A
chr22:21983260	snp_fw_seq3	CAG/CGG
chr22:21983260	snp_rv_seq3	CTG/CCG
chr22:21983260	func	intronic
chr22:21983260	transcript	NM_001017964
chr22:21983260	genomic	.
chr22:21983260	codon	.
chr22:21983260	protein	.
chr22:21983260	worst	intronic
chr22:21983260	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21983260	nvar	1
chr22:21983260	var	chr22:21983260:A/G
chr22:21983314	allele_ref	G
chr22:21983314	allele_alt	A
chr22:21983314	seqdb_ref	G
chr22:21983314	snp_fw_seq3	GGA/GAA
chr22:21983314	snp_rv_seq3	TCC/TTC
chr22:21983314	func	missense
chr22:21983314	transcript	NM_001017964
chr22:21983314	genomic	g.587G>A
chr22:21983314	codon	c.587TCC>TTC
chr22:21983314	protein	p.196S>F
chr22:21983314	worst	missense
chr22:21983314	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21983314	nvar	1
chr22:21983314	var	chr22:21983314:G/A
chr22:21984205	allele_ref	A
chr22:21984205	allele_alt	G
chr22:21984205	seqdb_ref	A
chr22:21984205	snp_fw_seq3	CAG/CGG
chr22:21984205	snp_rv_seq3	CTG/CCG
chr22:21984205	func	silent
chr22:21984205	transcript	NM_001017964
chr22:21984205	genomic	.
chr22:21984205	codon	.
chr22:21984205	protein	.
chr22:21984205	worst	silent
chr22:21984205	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21984205	nvar	1
chr22:21984205	var	chr22:21984205:A/G
chr22:21987562	allele_ref	C
chr22:21987562	allele_alt	T
chr22:21987562	seqdb_ref	C
chr22:21987562	snp_fw_seq3	GCG/GTG
chr22:21987562	snp_rv_seq3	CGC/CAC
chr22:21987562	func	intronic
chr22:21987562	transcript	NM_152612
chr22:21987562	genomic	.
chr22:21987562	codon	.
chr22:21987562	protein	.
chr22:21987562	worst	intronic
chr22:21987562	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21987562	nvar	1
chr22:21987562	var	chr22:21987562:C/T
chr22:21988303	allele_ref	C
chr22:21988303	allele_alt	T
chr22:21988303	seqdb_ref	C
chr22:21988303	snp_fw_seq3	TCT/TTT
chr22:21988303	snp_rv_seq3	AGA/AAA
chr22:21988303	func	intronic
chr22:21988303	transcript	NM_152612
chr22:21988303	genomic	.
chr22:21988303	codon	.
chr22:21988303	protein	.
chr22:21988303	worst	intronic
chr22:21988303	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21988303	nvar	1
chr22:21988303	var	chr22:21988303:C/T
chr22:21988524	allele_ref	C
chr22:21988524	allele_alt	T
chr22:21988524	seqdb_ref	C
chr22:21988524	snp_fw_seq3	GCG/GTG
chr22:21988524	snp_rv_seq3	CGC/CAC
chr22:21988524	func	missense
chr22:21988524	transcript	NM_152612
chr22:21988524	genomic	g.286C>T
chr22:21988524	codon	c.286CGC>TGC
chr22:21988524	protein	p.96R>C
chr22:21988524	worst	missense
chr22:21988524	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21988524	nvar	1
chr22:21988524	var	chr22:21988524:C/T
chr22:21988599	allele_ref	G
chr22:21988599	allele_alt	A
chr22:21988599	seqdb_ref	G
chr22:21988599	snp_fw_seq3	TGG/TAG
chr22:21988599	snp_rv_seq3	CCA/CTA
chr22:21988599	func	missense
chr22:21988599	transcript	NM_152612
chr22:21988599	genomic	g.361G>A
chr22:21988599	codon	c.361GGA>AGA
chr22:21988599	protein	p.121G>R
chr22:21988599	worst	missense
chr22:21988599	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21988599	nvar	1
chr22:21988599	var	chr22:21988599:G/A
chr22:21988602	allele_ref	C
chr22:21988602	allele_alt	T
chr22:21988602	seqdb_ref	C
chr22:21988602	snp_fw_seq3	ACG/ATG
chr22:21988602	snp_rv_seq3	CGT/CAT
chr22:21988602	func	missense
chr22:21988602	transcript	NM_152612
chr22:21988602	genomic	g.364C>T
chr22:21988602	codon	c.364CGG>TGG
chr22:21988602	protein	p.122R>W
chr22:21988602	worst	missense
chr22:21988602	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21988602	nvar	1
chr22:21988602	var	chr22:21988602:C/T
chr22:21988833	allele_ref	C
chr22:21988833	allele_alt	T
chr22:21988833	seqdb_ref	C
chr22:21988833	snp_fw_seq3	GCG/GTG
chr22:21988833	snp_rv_seq3	CGC/CAC
chr22:21988833	func	missense
chr22:21988833	transcript	NM_152612
chr22:21988833	genomic	g.595C>T
chr22:21988833	codon	c.595CGG>TGG
chr22:21988833	protein	p.199R>W
chr22:21988833	worst	missense
chr22:21988833	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21988833	nvar	1
chr22:21988833	var	chr22:21988833:C/T
chr22:21988865	allele_ref	A
chr22:21988865	allele_alt	G
chr22:21988865	seqdb_ref	A
chr22:21988865	snp_fw_seq3	GAG/GGG
chr22:21988865	snp_rv_seq3	CTC/CCC
chr22:21988865	func	intronic
chr22:21988865	transcript	NM_152612
chr22:21988865	genomic	.
chr22:21988865	codon	.
chr22:21988865	protein	.
chr22:21988865	worst	intronic
chr22:21988865	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21988865	nvar	1
chr22:21988865	var	chr22:21988865:A/G
chr22:21989092	allele_ref	G
chr22:21989092	allele_alt	T
chr22:21989092	seqdb_ref	G
chr22:21989092	snp_fw_seq3	GGC/GTC
chr22:21989092	snp_rv_seq3	GCC/GAC
chr22:21989092	func	missense
chr22:21989092	transcript	NM_152612
chr22:21989092	genomic	g.740G>T
chr22:21989092	codon	c.740GGC>GTC
chr22:21989092	protein	p.247G>V
chr22:21989092	worst	missense
chr22:21989092	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21989092	nvar	1
chr22:21989092	var	chr22:21989092:G/T
chr22:21989154	allele_ref	C
chr22:21989154	allele_alt	T
chr22:21989154	seqdb_ref	C
chr22:21989154	snp_fw_seq3	CCG/CTG
chr22:21989154	snp_rv_seq3	CGG/CAG
chr22:21989154	func	missense
chr22:21989154	transcript	NM_152612
chr22:21989154	genomic	g.802C>T
chr22:21989154	codon	c.802CGC>TGC
chr22:21989154	protein	p.268R>C
chr22:21989154	worst	missense
chr22:21989154	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21989154	nvar	1
chr22:21989154	var	chr22:21989154:C/T
chr22:21989179	allele_ref	T
chr22:21989179	allele_alt	A
chr22:21989179	seqdb_ref	T
chr22:21989179	snp_fw_seq3	ATC/AAC
chr22:21989179	snp_rv_seq3	GAT/GTT
chr22:21989179	func	missense
chr22:21989179	transcript	NM_152612
chr22:21989179	genomic	g.827T>A
chr22:21989179	codon	c.827ATC>AAC
chr22:21989179	protein	p.276I>N
chr22:21989179	worst	missense
chr22:21989179	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21989179	nvar	1
chr22:21989179	var	chr22:21989179:T/A
chr22:21989230	allele_ref	C
chr22:21989230	allele_alt	T
chr22:21989230	seqdb_ref	C
chr22:21989230	snp_fw_seq3	CCG/CTG
chr22:21989230	snp_rv_seq3	CGG/CAG
chr22:21989230	func	missense
chr22:21989230	transcript	NM_152612
chr22:21989230	genomic	g.878C>T
chr22:21989230	codon	c.878CCG>CTG
chr22:21989230	protein	p.293P>L
chr22:21989230	worst	missense
chr22:21989230	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21989230	nvar	1
chr22:21989230	var	chr22:21989230:C/T
chr22:21989248	allele_ref	G
chr22:21989248	allele_alt	A
chr22:21989248	seqdb_ref	G
chr22:21989248	snp_fw_seq3	CGC/CAC
chr22:21989248	snp_rv_seq3	GCG/GTG
chr22:21989248	func	missense
chr22:21989248	transcript	NM_152612
chr22:21989248	genomic	g.896G>A
chr22:21989248	codon	c.896CGC>CAC
chr22:21989248	protein	p.299R>H
chr22:21989248	worst	missense
chr22:21989248	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21989248	nvar	1
chr22:21989248	var	chr22:21989248:G/A
chr22:21989258	allele_ref	C
chr22:21989258	allele_alt	T
chr22:21989258	seqdb_ref	C
chr22:21989258	snp_fw_seq3	ACT/ATT
chr22:21989258	snp_rv_seq3	AGT/AAT
chr22:21989258	func	silent
chr22:21989258	transcript	NM_152612
chr22:21989258	genomic	.
chr22:21989258	codon	.
chr22:21989258	protein	.
chr22:21989258	worst	silent
chr22:21989258	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21989258	nvar	1
chr22:21989258	var	chr22:21989258:C/T
chr22:21989325	allele_ref	C
chr22:21989325	allele_alt	T
chr22:21989325	seqdb_ref	C
chr22:21989325	snp_fw_seq3	CCG/CTG
chr22:21989325	snp_rv_seq3	CGG/CAG
chr22:21989325	func	missense
chr22:21989325	transcript	NM_152612
chr22:21989325	genomic	g.973C>T
chr22:21989325	codon	c.973CGT>TGT
chr22:21989325	protein	p.325R>C
chr22:21989325	worst	missense
chr22:21989325	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21989325	nvar	1
chr22:21989325	var	chr22:21989325:C/T
chr22:21989451	allele_ref	C
chr22:21989451	allele_alt	T
chr22:21989451	seqdb_ref	C
chr22:21989451	snp_fw_seq3	CCG/CTG
chr22:21989451	snp_rv_seq3	CGG/CAG
chr22:21989451	func	missense
chr22:21989451	transcript	NM_152612
chr22:21989451	genomic	g.1099C>T
chr22:21989451	codon	c.1099CGC>TGC
chr22:21989451	protein	p.367R>C
chr22:21989451	worst	missense
chr22:21989451	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21989451	nvar	1
chr22:21989451	var	chr22:21989451:C/T
chr22:21990752	allele_ref	A
chr22:21990752	allele_alt	G
chr22:21990752	seqdb_ref	A
chr22:21990752	snp_fw_seq3	AAG/AGG
chr22:21990752	snp_rv_seq3	CTT/CCT
chr22:21990752	func	missense
chr22:21990752	transcript	NM_152612
chr22:21990752	genomic	g.1235A>G
chr22:21990752	codon	c.1235AAG>AGG
chr22:21990752	protein	p.412K>R
chr22:21990752	worst	missense
chr22:21990752	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21990752	nvar	1
chr22:21990752	var	chr22:21990752:A/G
chr22:21990822	allele_ref	C
chr22:21990822	allele_alt	T
chr22:21990822	seqdb_ref	C
chr22:21990822	snp_fw_seq3	TCG/TTG
chr22:21990822	snp_rv_seq3	CGA/CAA
chr22:21990822	func	silent
chr22:21990822	transcript	NM_152612
chr22:21990822	genomic	.
chr22:21990822	codon	.
chr22:21990822	protein	.
chr22:21990822	worst	silent
chr22:21990822	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21990822	nvar	1
chr22:21990822	var	chr22:21990822:C/T
chr22:21991072	allele_ref	T
chr22:21991072	allele_alt	C
chr22:21991072	seqdb_ref	T
chr22:21991072	snp_fw_seq3	CTG/CCG
chr22:21991072	snp_rv_seq3	CAG/CGG
chr22:21991072	func	missense
chr22:21991072	transcript	NM_152612
chr22:21991072	genomic	g.1555T>C
chr22:21991072	codon	c.1555TGC>CGC
chr22:21991072	protein	p.519C>R
chr22:21991072	worst	missense
chr22:21991072	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21991072	nvar	1
chr22:21991072	var	chr22:21991072:T/C
chr22:21991224	allele_ref	C
chr22:21991224	allele_alt	T
chr22:21991224	seqdb_ref	C
chr22:21991224	snp_fw_seq3	CCG/CTG
chr22:21991224	snp_rv_seq3	CGG/CAG
chr22:21991224	func	silent
chr22:21991224	transcript	NM_152612
chr22:21991224	genomic	.
chr22:21991224	codon	.
chr22:21991224	protein	.
chr22:21991224	worst	silent
chr22:21991224	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21991224	nvar	1
chr22:21991224	var	chr22:21991224:C/T
chr22:21998219	allele_ref	G
chr22:21998219	allele_alt	A
chr22:21998219	seqdb_ref	G
chr22:21998219	snp_fw_seq3	CGA/CAA
chr22:21998219	snp_rv_seq3	TCG/TTG
chr22:21998219	func	missense
chr22:21998219	transcript	NM_022044
chr22:21998219	genomic	g.421G>A
chr22:21998219	codon	c.421GAC>AAC
chr22:21998219	protein	p.141D>N
chr22:21998219	worst	missense
chr22:21998219	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21998219	nvar	1
chr22:21998219	var	chr22:21998219:G/A
chr22:21998448	allele_ref	G
chr22:21998448	allele_alt	A
chr22:21998448	seqdb_ref	G
chr22:21998448	snp_fw_seq3	GGT/GAT
chr22:21998448	snp_rv_seq3	ACC/ATC
chr22:21998448	func	missense
chr22:21998448	transcript	NM_022044
chr22:21998448	genomic	g.650G>A
chr22:21998448	codon	c.650GGT>GAT
chr22:21998448	protein	p.217G>D
chr22:21998448	worst	missense
chr22:21998448	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:21998448	nvar	1
chr22:21998448	var	chr22:21998448:G/A
chr22:21998509	allele_ref	T
chr22:21998509	allele_alt	C
chr22:21998509	seqdb_ref	T
chr22:21998509	snp_fw_seq3	CTG/CCG
chr22:21998509	snp_rv_seq3	CAG/CGG
chr22:21998509	func	3-UTR
chr22:21998509	transcript	NM_022044
chr22:21998509	genomic	.
chr22:21998509	codon	.
chr22:21998509	protein	.
chr22:21998509	worst	UTR3
chr22:21998509	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:21998509	nvar	1
chr22:21998509	var	chr22:21998509:T/C
chr22:22024887	allele_ref	T
chr22:22024887	allele_alt	C
chr22:22024887	seqdb_ref	T
chr22:22024887	snp_fw_seq3	TTT/TCT
chr22:22024887	snp_rv_seq3	AAA/AGA
chr22:22024887	func	missense,missense,missense
chr22:22024887	transcript	NM_014337,NM_148175,NM_148176
chr22:22024887	genomic	g.115T>C,g.115T>C,g.115T>C
chr22:22024887	codon	c.115TTT>CTT,c.115TTT>CTT,c.115TTT>CTT
chr22:22024887	protein	p.39F>L,p.39F>L,p.39F>L
chr22:22024887	worst	missense
chr22:22024887	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22024887	nvar	1
chr22:22024887	var	chr22:22024887:T/C
chr22:22035664	allele_ref	C
chr22:22035664	allele_alt	T
chr22:22035664	seqdb_ref	C
chr22:22035664	snp_fw_seq3	ACG/ATG
chr22:22035664	snp_rv_seq3	CGT/CAT
chr22:22035664	func	silent,silent,silent
chr22:22035664	transcript	NM_014337,NM_148175,NM_148176
chr22:22035664	genomic	.,.,.
chr22:22035664	codon	.,.,.
chr22:22035664	protein	.,.,.
chr22:22035664	worst	silent
chr22:22035664	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22035664	nvar	1
chr22:22035664	var	chr22:22035664:C/T
chr22:22036832	allele_ref	T
chr22:22036832	allele_alt	C
chr22:22036832	seqdb_ref	T
chr22:22036832	snp_fw_seq3	CTG/CCG
chr22:22036832	snp_rv_seq3	CAG/CGG
chr22:22036832	func	intronic,intronic,intronic
chr22:22036832	transcript	NM_014337,NM_148175,NM_148176
chr22:22036832	genomic	.,.,.
chr22:22036832	codon	.,.,.
chr22:22036832	protein	.,.,.
chr22:22036832	worst	intronic
chr22:22036832	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22036832	nvar	1
chr22:22036832	var	chr22:22036832:T/C
chr22:22040792	allele_ref	G
chr22:22040792	allele_alt	A
chr22:22040792	seqdb_ref	G
chr22:22040792	snp_fw_seq3	AGG/AAG
chr22:22040792	snp_rv_seq3	CCT/CTT
chr22:22040792	func	silent,silent,silent
chr22:22040792	transcript	NM_014337,NM_148175,NM_148176
chr22:22040792	genomic	.,.,.
chr22:22040792	codon	.,.,.
chr22:22040792	protein	.,.,.
chr22:22040792	worst	silent
chr22:22040792	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22040792	nvar	1
chr22:22040792	var	chr22:22040792:G/A
chr22:22041882	allele_ref	C
chr22:22041882	allele_alt	T
chr22:22041882	seqdb_ref	C
chr22:22041882	snp_fw_seq3	GCT/GTT
chr22:22041882	snp_rv_seq3	AGC/AAC
chr22:22041882	func	intronic,intronic,intronic
chr22:22041882	transcript	NM_014337,NM_148175,NM_148176
chr22:22041882	genomic	.,.,.
chr22:22041882	codon	.,.,.
chr22:22041882	protein	.,.,.
chr22:22041882	worst	intronic
chr22:22041882	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22041882	nvar	1
chr22:22041882	var	chr22:22041882:C/T
chr22:22041982	allele_ref	C
chr22:22041982	allele_alt	T
chr22:22041982	seqdb_ref	C
chr22:22041982	snp_fw_seq3	ACG/ATG
chr22:22041982	snp_rv_seq3	CGT/CAT
chr22:22041982	func	silent,silent,silent
chr22:22041982	transcript	NM_014337,NM_148175,NM_148176
chr22:22041982	genomic	.,.,.
chr22:22041982	codon	.,.,.
chr22:22041982	protein	.,.,.
chr22:22041982	worst	silent
chr22:22041982	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22041982	nvar	1
chr22:22041982	var	chr22:22041982:C/T
chr22:22042031	allele_ref	G
chr22:22042031	allele_alt	A
chr22:22042031	seqdb_ref	G
chr22:22042031	snp_fw_seq3	CGA/CAA
chr22:22042031	snp_rv_seq3	TCG/TTG
chr22:22042031	func	intronic,intronic,intronic
chr22:22042031	transcript	NM_014337,NM_148175,NM_148176
chr22:22042031	genomic	.,.,.
chr22:22042031	codon	.,.,.
chr22:22042031	protein	.,.,.
chr22:22042031	worst	intronic
chr22:22042031	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22042031	nvar	1
chr22:22042031	var	chr22:22042031:G/A
chr22:22042440	allele_ref	C
chr22:22042440	allele_alt	T
chr22:22042440	seqdb_ref	C
chr22:22042440	snp_fw_seq3	CCG/CTG
chr22:22042440	snp_rv_seq3	CGG/CAG
chr22:22042440	func	intronic,intronic,intronic
chr22:22042440	transcript	NM_014337,NM_148175,NM_148176
chr22:22042440	genomic	.,.,.
chr22:22042440	codon	.,.,.
chr22:22042440	protein	.,.,.
chr22:22042440	worst	intronic
chr22:22042440	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22042440	nvar	1
chr22:22042440	var	chr22:22042440:C/T
chr22:22042999	allele_ref	C
chr22:22042999	allele_alt	T
chr22:22042999	seqdb_ref	C
chr22:22042999	snp_fw_seq3	TCC/TTC
chr22:22042999	snp_rv_seq3	GGA/GAA
chr22:22042999	func	intronic,intronic,intronic
chr22:22042999	transcript	NM_014337,NM_148175,NM_148176
chr22:22042999	genomic	.,.,.
chr22:22042999	codon	.,.,.
chr22:22042999	protein	.,.,.
chr22:22042999	worst	intronic
chr22:22042999	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22042999	nvar	1
chr22:22042999	var	chr22:22042999:C/T
chr22:22048114	allele_ref	G
chr22:22048114	allele_alt	A
chr22:22048114	seqdb_ref	G
chr22:22048114	snp_fw_seq3	CGT/CAT
chr22:22048114	snp_rv_seq3	ACG/ATG
chr22:22048114	func	silent,silent,silent
chr22:22048114	transcript	NM_014337,NM_148175,NM_148176
chr22:22048114	genomic	.,.,.
chr22:22048114	codon	.,.,.
chr22:22048114	protein	.,.,.
chr22:22048114	worst	silent
chr22:22048114	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22048114	nvar	1
chr22:22048114	var	chr22:22048114:G/A
chr22:22048862	allele_ref	C
chr22:22048862	allele_alt	T
chr22:22048862	seqdb_ref	C
chr22:22048862	snp_fw_seq3	ACC/ATC
chr22:22048862	snp_rv_seq3	GGT/GAT
chr22:22048862	func	intronic,intronic,intronic
chr22:22048862	transcript	NM_014337,NM_148175,NM_148176
chr22:22048862	genomic	.,.,.
chr22:22048862	codon	.,.,.
chr22:22048862	protein	.,.,.
chr22:22048862	worst	intronic
chr22:22048862	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22048862	nvar	1
chr22:22048862	var	chr22:22048862:C/T
chr22:22049263	allele_ref	C
chr22:22049263	allele_alt	T
chr22:22049263	seqdb_ref	C
chr22:22049263	snp_fw_seq3	CCG/CTG
chr22:22049263	snp_rv_seq3	CGG/CAG
chr22:22049263	func	missense,missense,missense
chr22:22049263	transcript	NM_014337,NM_148175,NM_148176
chr22:22049263	genomic	g.1370C>T,g.1370C>T,g.1370C>T
chr22:22049263	codon	c.1370CCG>CTG,c.1370CCG>CTG,c.1370CCG>CTG
chr22:22049263	protein	p.457P>L,p.457P>L,p.457P>L
chr22:22049263	worst	missense
chr22:22049263	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22049263	nvar	1
chr22:22049263	var	chr22:22049263:C/T
chr22:22049369	allele_ref	G
chr22:22049369	allele_alt	T
chr22:22049369	seqdb_ref	G
chr22:22049369	snp_fw_seq3	CGC/CTC
chr22:22049369	snp_rv_seq3	GCG/GAG
chr22:22049369	func	intronic,intronic,intronic
chr22:22049369	transcript	NM_014337,NM_148175,NM_148176
chr22:22049369	genomic	.,.,.
chr22:22049369	codon	.,.,.
chr22:22049369	protein	.,.,.
chr22:22049369	worst	intronic
chr22:22049369	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22049369	nvar	1
chr22:22049369	var	chr22:22049369:G/T
chr22:22049397	allele_ref	T
chr22:22049397	allele_alt	A
chr22:22049397	seqdb_ref	T
chr22:22049397	snp_fw_seq3	GTG/GAG
chr22:22049397	snp_rv_seq3	CAC/CTC
chr22:22049397	func	intronic,intronic,intronic
chr22:22049397	transcript	NM_014337,NM_148175,NM_148176
chr22:22049397	genomic	.,.,.
chr22:22049397	codon	.,.,.
chr22:22049397	protein	.,.,.
chr22:22049397	worst	intronic
chr22:22049397	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22049397	nvar	1
chr22:22049397	var	chr22:22049397:T/A
chr22:22049783	allele_ref	C
chr22:22049783	allele_alt	T
chr22:22049783	seqdb_ref	C
chr22:22049783	snp_fw_seq3	GCA/GTA
chr22:22049783	snp_rv_seq3	TGC/TAC
chr22:22049783	func	3-UTR,3-UTR,splice,silent,splice
chr22:22049783	annot_details	DIST=-2,NMD=0,OFPTV=0,EXIN=20,ISEQ=GTTGGC,ESEQ=CAGCAG,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS20+-2C>T,DIST=-2,NMD=0,OFPTV=1,EXIN=20,ISEQ=GTTGGC,ESEQ=CAGCAG,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS20+-2C>T
chr22:22049783	transcript	NM_014337,NM_148175,NM_148175,NM_148176,NM_148176
chr22:22049783	genomic	.,.,.,.,.
chr22:22049783	codon	.,.,.,.,.
chr22:22049783	protein	.,.,.,.,.
chr22:22049783	worst	splice
chr22:22049783	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:22049783	nvar	1
chr22:22049783	var	chr22:22049783:C/T
chr22:22051204	allele_ref	C
chr22:22051204	allele_alt	T
chr22:22051204	seqdb_ref	C
chr22:22051204	snp_fw_seq3	GCC/GTC
chr22:22051204	snp_rv_seq3	GGC/GAC
chr22:22051204	func	3-UTR,3-UTR,3-UTR
chr22:22051204	transcript	NM_014337,NM_148175,NM_148176
chr22:22051204	genomic	.,.,.
chr22:22051204	codon	.,.,.
chr22:22051204	protein	.,.,.
chr22:22051204	worst	UTR3
chr22:22051204	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=3,npcRNA=0
chr22:22051204	nvar	1
chr22:22051204	var	chr22:22051204:C/T
chr22:22055394	allele_ref	A
chr22:22055394	allele_alt	G
chr22:22055394	seqdb_ref	A
chr22:22055394	snp_fw_seq3	CAA/CGA
chr22:22055394	snp_rv_seq3	TTG/TCG
chr22:22055394	func	3-UTR
chr22:22055394	transcript	NM_013313
chr22:22055394	genomic	.
chr22:22055394	codon	.
chr22:22055394	protein	.
chr22:22055394	worst	UTR3
chr22:22055394	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:22055394	nvar	1
chr22:22055394	var	chr22:22055394:A/G
chr22:22058098	allele_ref	G
chr22:22058098	allele_alt	A
chr22:22058098	seqdb_ref	G
chr22:22058098	snp_fw_seq3	CGC/CAC
chr22:22058098	snp_rv_seq3	GCG/GTG
chr22:22058098	func	intronic
chr22:22058098	transcript	NM_013313
chr22:22058098	genomic	.
chr22:22058098	codon	.
chr22:22058098	protein	.
chr22:22058098	worst	intronic
chr22:22058098	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22058098	nvar	1
chr22:22058098	var	chr22:22058098:G/A
chr22:22123650	allele_ref	T
chr22:22123650	allele_alt	C
chr22:22123650	seqdb_ref	T
chr22:22123650	snp_fw_seq3	ATG/ACG
chr22:22123650	snp_rv_seq3	CAT/CGT
chr22:22123650	func	intronic,intronic
chr22:22123650	transcript	NM_002745,NM_138957
chr22:22123650	genomic	.,.
chr22:22123650	codon	.,.
chr22:22123650	protein	.,.
chr22:22123650	worst	intronic
chr22:22123650	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22123650	nvar	1
chr22:22123650	var	chr22:22123650:T/C
chr22:22127317	allele_ref	A
chr22:22127317	allele_alt	G
chr22:22127317	seqdb_ref	A
chr22:22127317	snp_fw_seq3	CAG/CGG
chr22:22127317	snp_rv_seq3	CTG/CCG
chr22:22127317	func	intronic,intronic
chr22:22127317	transcript	NM_002745,NM_138957
chr22:22127317	genomic	.,.
chr22:22127317	codon	.,.
chr22:22127317	protein	.,.
chr22:22127317	worst	intronic
chr22:22127317	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22127317	nvar	1
chr22:22127317	var	chr22:22127317:A/G
chr22:22143123	allele_ref	G
chr22:22143123	allele_alt	A
chr22:22143123	seqdb_ref	G
chr22:22143123	snp_fw_seq3	TGA/TAA
chr22:22143123	snp_rv_seq3	TCA/TTA
chr22:22143123	func	intronic,intronic
chr22:22143123	transcript	NM_002745,NM_138957
chr22:22143123	genomic	.,.
chr22:22143123	codon	.,.
chr22:22143123	protein	.,.
chr22:22143123	worst	intronic
chr22:22143123	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22143123	nvar	1
chr22:22143123	var	chr22:22143123:G/A
chr22:22277485	allele_ref	G
chr22:22277485	allele_alt	C
chr22:22277485	seqdb_ref	G
chr22:22277485	snp_fw_seq3	TGG/TCG
chr22:22277485	snp_rv_seq3	CCA/CGA
chr22:22277485	func	missense
chr22:22277485	transcript	NM_014634
chr22:22277485	genomic	g.1345G>C
chr22:22277485	codon	c.1345CAG>GAG
chr22:22277485	protein	p.449Q>E
chr22:22277485	worst	missense
chr22:22277485	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22277485	nvar	1
chr22:22277485	var	chr22:22277485:G/C
chr22:22277667	allele_ref	C
chr22:22277667	allele_alt	T
chr22:22277667	seqdb_ref	C
chr22:22277667	snp_fw_seq3	ACG/ATG
chr22:22277667	snp_rv_seq3	CGT/CAT
chr22:22277667	func	missense
chr22:22277667	transcript	NM_014634
chr22:22277667	genomic	g.1163C>T
chr22:22277667	codon	c.1163CGT>CAT
chr22:22277667	protein	p.388R>H
chr22:22277667	worst	missense
chr22:22277667	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22277667	nvar	1
chr22:22277667	var	chr22:22277667:C/T
chr22:22277675	allele_ref	G
chr22:22277675	allele_alt	A
chr22:22277675	seqdb_ref	G
chr22:22277675	snp_fw_seq3	CGC/CAC
chr22:22277675	snp_rv_seq3	GCG/GTG
chr22:22277675	func	silent
chr22:22277675	transcript	NM_014634
chr22:22277675	genomic	.
chr22:22277675	codon	.
chr22:22277675	protein	.
chr22:22277675	worst	silent
chr22:22277675	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22277675	nvar	1
chr22:22277675	var	chr22:22277675:G/A
chr22:22279958	allele_ref	G
chr22:22279958	allele_alt	T
chr22:22279958	seqdb_ref	G
chr22:22279958	snp_fw_seq3	CGG/CTG
chr22:22279958	snp_rv_seq3	CCG/CAG
chr22:22279958	func	silent
chr22:22279958	transcript	NM_014634
chr22:22279958	genomic	.
chr22:22279958	codon	.
chr22:22279958	protein	.
chr22:22279958	worst	silent
chr22:22279958	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22279958	nvar	1
chr22:22279958	var	chr22:22279958:G/T
chr22:22285616	allele_ref	C
chr22:22285616	allele_alt	T
chr22:22285616	seqdb_ref	C
chr22:22285616	snp_fw_seq3	TCG/TTG
chr22:22285616	snp_rv_seq3	CGA/CAA
chr22:22285616	func	silent
chr22:22285616	transcript	NM_014634
chr22:22285616	genomic	.
chr22:22285616	codon	.
chr22:22285616	protein	.
chr22:22285616	worst	silent
chr22:22285616	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22285616	nvar	1
chr22:22285616	var	chr22:22285616:C/T
chr22:22285632	allele_ref	G
chr22:22285632	allele_alt	A
chr22:22285632	seqdb_ref	G
chr22:22285632	snp_fw_seq3	CGC/CAC
chr22:22285632	snp_rv_seq3	GCG/GTG
chr22:22285632	func	missense
chr22:22285632	transcript	NM_014634
chr22:22285632	genomic	g.779G>A
chr22:22285632	codon	c.779GCG>GTG
chr22:22285632	protein	p.260A>V
chr22:22285632	worst	missense
chr22:22285632	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22285632	nvar	1
chr22:22285632	var	chr22:22285632:G/A
chr22:22287862	allele_ref	G
chr22:22287862	allele_alt	A
chr22:22287862	seqdb_ref	G
chr22:22287862	snp_fw_seq3	CGT/CAT
chr22:22287862	snp_rv_seq3	ACG/ATG
chr22:22287862	func	silent
chr22:22287862	transcript	NM_014634
chr22:22287862	genomic	.
chr22:22287862	codon	.
chr22:22287862	protein	.
chr22:22287862	worst	silent
chr22:22287862	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22287862	nvar	1
chr22:22287862	var	chr22:22287862:G/A
chr22:22287964	allele_ref	T
chr22:22287964	allele_alt	C
chr22:22287964	seqdb_ref	T
chr22:22287964	snp_fw_seq3	GTG/GCG
chr22:22287964	snp_rv_seq3	CAC/CGC
chr22:22287964	func	intronic
chr22:22287964	transcript	NM_014634
chr22:22287964	genomic	.
chr22:22287964	codon	.
chr22:22287964	protein	.
chr22:22287964	worst	intronic
chr22:22287964	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22287964	nvar	1
chr22:22287964	var	chr22:22287964:T/C
chr22:22288560	allele_ref	G
chr22:22288560	allele_alt	A
chr22:22288560	seqdb_ref	G
chr22:22288560	snp_fw_seq3	CGG/CAG
chr22:22288560	snp_rv_seq3	CCG/CTG
chr22:22288560	func	missense
chr22:22288560	transcript	NM_014634
chr22:22288560	genomic	g.394G>A
chr22:22288560	codon	c.394CGC>TGC
chr22:22288560	protein	p.132R>C
chr22:22288560	worst	missense
chr22:22288560	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22288560	nvar	1
chr22:22288560	var	chr22:22288560:G/A
chr22:22293944	allele_ref	C
chr22:22293944	allele_alt	T
chr22:22293944	seqdb_ref	c
chr22:22293944	snp_fw_seq3	cct/cTt
chr22:22293944	snp_rv_seq3	agg/aAg
chr22:22293944	func	silent
chr22:22293944	transcript	NM_014634
chr22:22293944	genomic	.
chr22:22293944	codon	.
chr22:22293944	protein	.
chr22:22293944	worst	silent
chr22:22293944	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22293944	nvar	1
chr22:22293944	var	chr22:22293944:C/T
chr22:22293959	allele_ref	C
chr22:22293959	allele_alt	T
chr22:22293959	seqdb_ref	c
chr22:22293959	snp_fw_seq3	ccC/cTC
chr22:22293959	snp_rv_seq3	Ggg/GAg
chr22:22293959	func	silent
chr22:22293959	transcript	NM_014634
chr22:22293959	genomic	.
chr22:22293959	codon	.
chr22:22293959	protein	.
chr22:22293959	worst	silent
chr22:22293959	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22293959	nvar	1
chr22:22293959	var	chr22:22293959:C/T
chr22:22314868	allele_ref	C
chr22:22314868	allele_alt	T
chr22:22314868	seqdb_ref	C
chr22:22314868	snp_fw_seq3	CCC/CTC
chr22:22314868	snp_rv_seq3	GGG/GAG
chr22:22314868	func	intronic
chr22:22314868	transcript	NM_003935
chr22:22314868	genomic	.
chr22:22314868	codon	.
chr22:22314868	protein	.
chr22:22314868	worst	intronic
chr22:22314868	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22314868	nvar	1
chr22:22314868	var	chr22:22314868:C/T
chr22:22316989	allele_ref	G
chr22:22316989	allele_alt	A
chr22:22316989	seqdb_ref	G
chr22:22316989	snp_fw_seq3	CGC/CAC
chr22:22316989	snp_rv_seq3	GCG/GTG
chr22:22316989	func	intronic
chr22:22316989	transcript	NM_003935
chr22:22316989	genomic	.
chr22:22316989	codon	.
chr22:22316989	protein	.
chr22:22316989	worst	intronic
chr22:22316989	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22316989	nvar	1
chr22:22316989	var	chr22:22316989:G/A
chr22:22317132	allele_ref	G
chr22:22317132	allele_alt	A
chr22:22317132	seqdb_ref	G
chr22:22317132	snp_fw_seq3	CGG/CAG
chr22:22317132	snp_rv_seq3	CCG/CTG
chr22:22317132	func	silent
chr22:22317132	transcript	NM_003935
chr22:22317132	genomic	.
chr22:22317132	codon	.
chr22:22317132	protein	.
chr22:22317132	worst	silent
chr22:22317132	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22317132	nvar	1
chr22:22317132	var	chr22:22317132:G/A
chr22:22317154	allele_ref	A
chr22:22317154	allele_alt	G
chr22:22317154	seqdb_ref	A
chr22:22317154	snp_fw_seq3	GAG/GGG
chr22:22317154	snp_rv_seq3	CTC/CCC
chr22:22317154	func	missense
chr22:22317154	transcript	NM_003935
chr22:22317154	genomic	g.1316A>G
chr22:22317154	codon	c.1316CTC>CCC
chr22:22317154	protein	p.439L>P
chr22:22317154	worst	missense
chr22:22317154	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22317154	nvar	1
chr22:22317154	var	chr22:22317154:A/G
chr22:22318278	allele_ref	T
chr22:22318278	allele_alt	C
chr22:22318278	seqdb_ref	T
chr22:22318278	snp_fw_seq3	ATG/ACG
chr22:22318278	snp_rv_seq3	CAT/CGT
chr22:22318278	func	intronic
chr22:22318278	transcript	NM_003935
chr22:22318278	genomic	.
chr22:22318278	codon	.
chr22:22318278	protein	.
chr22:22318278	worst	intronic
chr22:22318278	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22318278	nvar	1
chr22:22318278	var	chr22:22318278:T/C
chr22:22318538	allele_ref	C
chr22:22318538	allele_alt	T
chr22:22318538	seqdb_ref	C
chr22:22318538	snp_fw_seq3	TCG/TTG
chr22:22318538	snp_rv_seq3	CGA/CAA
chr22:22318538	func	missense
chr22:22318538	transcript	NM_003935
chr22:22318538	genomic	g.1093C>T
chr22:22318538	codon	c.1093GAC>AAC
chr22:22318538	protein	p.365D>N
chr22:22318538	worst	missense
chr22:22318538	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22318538	nvar	1
chr22:22318538	var	chr22:22318538:C/T
chr22:22318671	allele_ref	G
chr22:22318671	allele_alt	A
chr22:22318671	seqdb_ref	G
chr22:22318671	snp_fw_seq3	CGT/CAT
chr22:22318671	snp_rv_seq3	ACG/ATG
chr22:22318671	func	silent
chr22:22318671	transcript	NM_003935
chr22:22318671	genomic	.
chr22:22318671	codon	.
chr22:22318671	protein	.
chr22:22318671	worst	silent
chr22:22318671	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22318671	nvar	1
chr22:22318671	var	chr22:22318671:G/A
chr22:22322138	allele_ref	G
chr22:22322138	allele_alt	A
chr22:22322138	seqdb_ref	G
chr22:22322138	snp_fw_seq3	TGA/TAA
chr22:22322138	snp_rv_seq3	TCA/TTA
chr22:22322138	func	intronic
chr22:22322138	transcript	NM_003935
chr22:22322138	genomic	.
chr22:22322138	codon	.
chr22:22322138	protein	.
chr22:22322138	worst	intronic
chr22:22322138	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22322138	nvar	1
chr22:22322138	var	chr22:22322138:G/A
chr22:22324605	allele_ref	C
chr22:22324605	allele_alt	T
chr22:22324605	seqdb_ref	C
chr22:22324605	snp_fw_seq3	GCA/GTA
chr22:22324605	snp_rv_seq3	TGC/TAC
chr22:22324605	func	silent
chr22:22324605	transcript	NM_003935
chr22:22324605	genomic	.
chr22:22324605	codon	.
chr22:22324605	protein	.
chr22:22324605	worst	silent
chr22:22324605	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22324605	nvar	1
chr22:22324605	var	chr22:22324605:C/T
chr22:22324825	allele_ref	C
chr22:22324825	allele_alt	T
chr22:22324825	seqdb_ref	C
chr22:22324825	snp_fw_seq3	GCC/GTC
chr22:22324825	snp_rv_seq3	GGC/GAC
chr22:22324825	func	intronic
chr22:22324825	transcript	NM_003935
chr22:22324825	genomic	.
chr22:22324825	codon	.
chr22:22324825	protein	.
chr22:22324825	worst	intronic
chr22:22324825	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22324825	nvar	1
chr22:22324825	var	chr22:22324825:C/T
chr22:22330082	allele_ref	T
chr22:22330082	allele_alt	C
chr22:22330082	seqdb_ref	T
chr22:22330082	snp_fw_seq3	TTT/TCT
chr22:22330082	snp_rv_seq3	AAA/AGA
chr22:22330082	func	5-UTR
chr22:22330082	transcript	NM_003935
chr22:22330082	genomic	.
chr22:22330082	codon	.
chr22:22330082	protein	.
chr22:22330082	worst	UTR5
chr22:22330082	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:22330082	nvar	1
chr22:22330082	var	chr22:22330082:T/C
chr22:22330107	allele_ref	T
chr22:22330107	allele_alt	G
chr22:22330107	seqdb_ref	T
chr22:22330107	snp_fw_seq3	GTT/GGT
chr22:22330107	snp_rv_seq3	AAC/ACC
chr22:22330107	func	5-UTR
chr22:22330107	transcript	NM_003935
chr22:22330107	genomic	.
chr22:22330107	codon	.
chr22:22330107	protein	.
chr22:22330107	worst	UTR5
chr22:22330107	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:22330107	nvar	1
chr22:22330107	var	chr22:22330107:T/G
chr22:22599215	allele_ref	A
chr22:22599215	allele_alt	G
chr22:22599215	seqdb_ref	A
chr22:22599215	snp_fw_seq3	CAT/CGT
chr22:22599215	snp_rv_seq3	ATG/ACG
chr22:22599215	func	5-UTR
chr22:22599215	transcript	NM_007128
chr22:22599215	genomic	.
chr22:22599215	codon	.
chr22:22599215	protein	.
chr22:22599215	worst	UTR5
chr22:22599215	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:22599215	nvar	1
chr22:22599215	var	chr22:22599215:A/G
chr22:22599216	allele_ref	T
chr22:22599216	allele_alt	C
chr22:22599216	seqdb_ref	T
chr22:22599216	snp_fw_seq3	ATG/ACG
chr22:22599216	snp_rv_seq3	CAT/CGT
chr22:22599216	func	5-UTR
chr22:22599216	transcript	NM_007128
chr22:22599216	genomic	.
chr22:22599216	codon	.
chr22:22599216	protein	.
chr22:22599216	worst	UTR5
chr22:22599216	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:22599216	nvar	1
chr22:22599216	var	chr22:22599216:T/C
chr22:22599294	allele_ref	A
chr22:22599294	allele_alt	C
chr22:22599294	seqdb_ref	A
chr22:22599294	snp_fw_seq3	AAA/ACA
chr22:22599294	snp_rv_seq3	TTT/TGT
chr22:22599294	func	intronic
chr22:22599294	transcript	NM_007128
chr22:22599294	genomic	.
chr22:22599294	codon	.
chr22:22599294	protein	.
chr22:22599294	worst	intronic
chr22:22599294	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22599294	nvar	1
chr22:22599294	var	chr22:22599294:A/C
chr22:22599424	allele_ref	G
chr22:22599424	allele_alt	A
chr22:22599424	seqdb_ref	G
chr22:22599424	snp_fw_seq3	CGC/CAC
chr22:22599424	snp_rv_seq3	GCG/GTG
chr22:22599424	func	missense
chr22:22599424	transcript	NM_007128
chr22:22599424	genomic	g.113G>A
chr22:22599424	codon	c.113CGC>CAC
chr22:22599424	protein	p.38R>H
chr22:22599424	worst	missense
chr22:22599424	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22599424	nvar	1
chr22:22599424	var	chr22:22599424:G/A
chr22:22599674	allele_ref	C
chr22:22599674	allele_alt	T
chr22:22599674	seqdb_ref	C
chr22:22599674	snp_fw_seq3	GCT/GTT
chr22:22599674	snp_rv_seq3	AGC/AAC
chr22:22599674	func	silent
chr22:22599674	transcript	NM_007128
chr22:22599674	genomic	.
chr22:22599674	codon	.
chr22:22599674	protein	.
chr22:22599674	worst	silent
chr22:22599674	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22599674	nvar	1
chr22:22599674	var	chr22:22599674:C/T
chr22:22599705	allele_ref	G
chr22:22599705	allele_alt	A
chr22:22599705	seqdb_ref	g
chr22:22599705	snp_fw_seq3	gga/gAa
chr22:22599705	snp_rv_seq3	tcc/tTc
chr22:22599705	func	missense
chr22:22599705	transcript	NM_007128
chr22:22599705	genomic	g.394G>A
chr22:22599705	codon	c.394GAG>AAG
chr22:22599705	protein	p.132E>K
chr22:22599705	worst	missense
chr22:22599705	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22599705	nvar	1
chr22:22599705	var	chr22:22599705:G/A
chr22:22842206	allele_ref	T
chr22:22842206	allele_alt	C
chr22:22842206	seqdb_ref	T
chr22:22842206	snp_fw_seq3	GTG/GCG
chr22:22842206	snp_rv_seq3	CAC/CGC
chr22:22842206	func	silent
chr22:22842206	transcript	NM_080764
chr22:22842206	genomic	.
chr22:22842206	codon	.
chr22:22842206	protein	.
chr22:22842206	worst	silent
chr22:22842206	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22842206	nvar	1
chr22:22842206	var	chr22:22842206:T/C
chr22:22842484	allele_ref	C
chr22:22842484	allele_alt	T
chr22:22842484	seqdb_ref	C
chr22:22842484	snp_fw_seq3	ACC/ATC
chr22:22842484	snp_rv_seq3	GGT/GAT
chr22:22842484	func	missense
chr22:22842484	transcript	NM_080764
chr22:22842484	genomic	g.1240C>T
chr22:22842484	codon	c.1240GTC>ATC
chr22:22842484	protein	p.414V>I
chr22:22842484	worst	missense
chr22:22842484	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22842484	nvar	1
chr22:22842484	var	chr22:22842484:C/T
chr22:22842957	allele_ref	T
chr22:22842957	allele_alt	G
chr22:22842957	seqdb_ref	T
chr22:22842957	snp_fw_seq3	TTC/TGC
chr22:22842957	snp_rv_seq3	GAA/GCA
chr22:22842957	func	missense
chr22:22842957	transcript	NM_080764
chr22:22842957	genomic	g.767T>G
chr22:22842957	codon	c.767GAA>GCA
chr22:22842957	protein	p.256E>A
chr22:22842957	worst	missense
chr22:22842957	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22842957	nvar	1
chr22:22842957	var	chr22:22842957:T/G
chr22:22843118	allele_ref	C
chr22:22843118	allele_alt	T
chr22:22843118	seqdb_ref	C
chr22:22843118	snp_fw_seq3	ACG/ATG
chr22:22843118	snp_rv_seq3	CGT/CAT
chr22:22843118	func	silent
chr22:22843118	transcript	NM_080764
chr22:22843118	genomic	.
chr22:22843118	codon	.
chr22:22843118	protein	.
chr22:22843118	worst	silent
chr22:22843118	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22843118	nvar	1
chr22:22843118	var	chr22:22843118:C/T
chr22:22868493	allele_ref	G
chr22:22868493	allele_alt	T
chr22:22868493	seqdb_ref	G
chr22:22868493	snp_fw_seq3	CGA/CTA
chr22:22868493	snp_rv_seq3	TCG/TAG
chr22:22868493	func	missense
chr22:22868493	transcript	NM_080740
chr22:22868493	genomic	g.1462G>T
chr22:22868493	codon	c.1462CGT>AGT
chr22:22868493	protein	p.488R>S
chr22:22868493	worst	missense
chr22:22868493	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22868493	nvar	1
chr22:22868493	var	chr22:22868493:G/T
chr22:22868497	allele_ref	G
chr22:22868497	allele_alt	C
chr22:22868497	seqdb_ref	G
chr22:22868497	snp_fw_seq3	GGA/GCA
chr22:22868497	snp_rv_seq3	TCC/TGC
chr22:22868497	func	missense
chr22:22868497	transcript	NM_080740
chr22:22868497	genomic	g.1458G>C
chr22:22868497	codon	c.1458TTC>TTG
chr22:22868497	protein	p.486F>L
chr22:22868497	worst	missense
chr22:22868497	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22868497	nvar	1
chr22:22868497	var	chr22:22868497:G/C
chr22:22868767	allele_ref	G
chr22:22868767	allele_alt	A
chr22:22868767	seqdb_ref	G
chr22:22868767	snp_fw_seq3	GGC/GAC
chr22:22868767	snp_rv_seq3	GCC/GTC
chr22:22868767	func	silent
chr22:22868767	transcript	NM_080740
chr22:22868767	genomic	.
chr22:22868767	codon	.
chr22:22868767	protein	.
chr22:22868767	worst	silent
chr22:22868767	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22868767	nvar	1
chr22:22868767	var	chr22:22868767:G/A
chr22:22868773	allele_ref	G
chr22:22868773	allele_alt	A
chr22:22868773	seqdb_ref	G
chr22:22868773	snp_fw_seq3	CGT/CAT
chr22:22868773	snp_rv_seq3	ACG/ATG
chr22:22868773	func	silent
chr22:22868773	transcript	NM_080740
chr22:22868773	genomic	.
chr22:22868773	codon	.
chr22:22868773	protein	.
chr22:22868773	worst	silent
chr22:22868773	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22868773	nvar	1
chr22:22868773	var	chr22:22868773:G/A
chr22:22868776	allele_ref	G
chr22:22868776	allele_alt	A
chr22:22868776	seqdb_ref	G
chr22:22868776	snp_fw_seq3	AGG/AAG
chr22:22868776	snp_rv_seq3	CCT/CTT
chr22:22868776	func	silent
chr22:22868776	transcript	NM_080740
chr22:22868776	genomic	.
chr22:22868776	codon	.
chr22:22868776	protein	.
chr22:22868776	worst	silent
chr22:22868776	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22868776	nvar	1
chr22:22868776	var	chr22:22868776:G/A
chr22:22869123	allele_ref	T
chr22:22869123	allele_alt	C
chr22:22869123	seqdb_ref	T
chr22:22869123	snp_fw_seq3	TTG/TCG
chr22:22869123	snp_rv_seq3	CAA/CGA
chr22:22869123	func	missense
chr22:22869123	transcript	NM_080740
chr22:22869123	genomic	g.832T>C
chr22:22869123	codon	c.832AAC>GAC
chr22:22869123	protein	p.278N>D
chr22:22869123	worst	missense
chr22:22869123	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22869123	nvar	1
chr22:22869123	var	chr22:22869123:T/C
chr22:22869129	allele_ref	G
chr22:22869129	allele_alt	A
chr22:22869129	seqdb_ref	G
chr22:22869129	snp_fw_seq3	AGT/AAT
chr22:22869129	snp_rv_seq3	ACT/ATT
chr22:22869129	func	missense
chr22:22869129	transcript	NM_080740
chr22:22869129	genomic	g.826G>A
chr22:22869129	codon	c.826CTT>TTT
chr22:22869129	protein	p.276L>F
chr22:22869129	worst	missense
chr22:22869129	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22869129	nvar	1
chr22:22869129	var	chr22:22869129:G/A
chr22:22869209	allele_ref	C
chr22:22869209	allele_alt	G
chr22:22869209	seqdb_ref	C
chr22:22869209	snp_fw_seq3	GCC/GGC
chr22:22869209	snp_rv_seq3	GGC/GCC
chr22:22869209	func	missense
chr22:22869209	transcript	NM_080740
chr22:22869209	genomic	g.746C>G
chr22:22869209	codon	c.746GGC>GCC
chr22:22869209	protein	p.249G>A
chr22:22869209	worst	missense
chr22:22869209	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22869209	nvar	1
chr22:22869209	var	chr22:22869209:C/G
chr22:22869218	allele_ref	T
chr22:22869218	allele_alt	C
chr22:22869218	seqdb_ref	T
chr22:22869218	snp_fw_seq3	ATT/ACT
chr22:22869218	snp_rv_seq3	AAT/AGT
chr22:22869218	func	missense
chr22:22869218	transcript	NM_080740
chr22:22869218	genomic	g.737T>C
chr22:22869218	codon	c.737AAT>AGT
chr22:22869218	protein	p.246N>S
chr22:22869218	worst	missense
chr22:22869218	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22869218	nvar	1
chr22:22869218	var	chr22:22869218:T/C
chr22:22869316	allele_ref	G
chr22:22869316	allele_alt	A
chr22:22869316	seqdb_ref	G
chr22:22869316	snp_fw_seq3	AGA/AAA
chr22:22869316	snp_rv_seq3	TCT/TTT
chr22:22869316	func	silent
chr22:22869316	transcript	NM_080740
chr22:22869316	genomic	.
chr22:22869316	codon	.
chr22:22869316	protein	.
chr22:22869316	worst	silent
chr22:22869316	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22869316	nvar	1
chr22:22869316	var	chr22:22869316:G/A
chr22:22869538	allele_ref	A
chr22:22869538	allele_alt	G
chr22:22869538	seqdb_ref	A
chr22:22869538	snp_fw_seq3	AAT/AGT
chr22:22869538	snp_rv_seq3	ATT/ACT
chr22:22869538	func	silent
chr22:22869538	transcript	NM_080740
chr22:22869538	genomic	.
chr22:22869538	codon	.
chr22:22869538	protein	.
chr22:22869538	worst	silent
chr22:22869538	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22869538	nvar	1
chr22:22869538	var	chr22:22869538:A/G
chr22:22869545	allele_ref	T
chr22:22869545	allele_alt	G
chr22:22869545	seqdb_ref	T
chr22:22869545	snp_fw_seq3	GTA/GGA
chr22:22869545	snp_rv_seq3	TAC/TCC
chr22:22869545	func	missense
chr22:22869545	transcript	NM_080740
chr22:22869545	genomic	g.410T>G
chr22:22869545	codon	c.410TAC>TCC
chr22:22869545	protein	p.137Y>S
chr22:22869545	worst	missense
chr22:22869545	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22869545	nvar	1
chr22:22869545	var	chr22:22869545:T/G
chr22:22869548	allele_ref	T
chr22:22869548	allele_alt	C
chr22:22869548	seqdb_ref	T
chr22:22869548	snp_fw_seq3	ATT/ACT
chr22:22869548	snp_rv_seq3	AAT/AGT
chr22:22869548	func	missense
chr22:22869548	transcript	NM_080740
chr22:22869548	genomic	g.407T>C
chr22:22869548	codon	c.407AAT>AGT
chr22:22869548	protein	p.136N>S
chr22:22869548	worst	missense
chr22:22869548	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22869548	nvar	1
chr22:22869548	var	chr22:22869548:T/C
chr22:22869649	allele_ref	G
chr22:22869649	allele_alt	C
chr22:22869649	seqdb_ref	G
chr22:22869649	snp_fw_seq3	CGG/CCG
chr22:22869649	snp_rv_seq3	CCG/CGG
chr22:22869649	func	silent
chr22:22869649	transcript	NM_080740
chr22:22869649	genomic	.
chr22:22869649	codon	.
chr22:22869649	protein	.
chr22:22869649	worst	silent
chr22:22869649	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22869649	nvar	1
chr22:22869649	var	chr22:22869649:G/C
chr22:22869742	allele_ref	C
chr22:22869742	allele_alt	A
chr22:22869742	seqdb_ref	C
chr22:22869742	snp_fw_seq3	ACT/AAT
chr22:22869742	snp_rv_seq3	AGT/ATT
chr22:22869742	func	missense
chr22:22869742	transcript	NM_080740
chr22:22869742	genomic	g.213C>A
chr22:22869742	codon	c.213AAG>AAT
chr22:22869742	protein	p.71K>N
chr22:22869742	worst	missense
chr22:22869742	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22869742	nvar	1
chr22:22869742	var	chr22:22869742:C/A
chr22:22890492	allele_ref	G
chr22:22890492	allele_alt	A
chr22:22890492	seqdb_ref	G
chr22:22890492	snp_fw_seq3	AGT/AAT
chr22:22890492	snp_rv_seq3	ACT/ATT
chr22:22890492	func	silent,silent,silent,silent,silent
chr22:22890492	transcript	NM_006115,NM_206953,NM_206954,NM_206955,NM_206956
chr22:22890492	genomic	.,.,.,.,.
chr22:22890492	codon	.,.,.,.,.
chr22:22890492	protein	.,.,.,.,.
chr22:22890492	worst	silent
chr22:22890492	class	silent,NON=0,SL=0,MIS=0,SYN=5,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22890492	nvar	1
chr22:22890492	var	chr22:22890492:G/A
chr22:22890752	allele_ref	A
chr22:22890752	allele_alt	G
chr22:22890752	seqdb_ref	A
chr22:22890752	snp_fw_seq3	AAG/AGG
chr22:22890752	snp_rv_seq3	CTT/CCT
chr22:22890752	func	silent,silent,silent,silent,silent
chr22:22890752	transcript	NM_006115,NM_206953,NM_206954,NM_206955,NM_206956
chr22:22890752	genomic	.,.,.,.,.
chr22:22890752	codon	.,.,.,.,.
chr22:22890752	protein	.,.,.,.,.
chr22:22890752	worst	silent
chr22:22890752	class	silent,NON=0,SL=0,MIS=0,SYN=5,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22890752	nvar	1
chr22:22890752	var	chr22:22890752:A/G
chr22:22890756	allele_ref	A
chr22:22890756	allele_alt	G
chr22:22890756	seqdb_ref	A
chr22:22890756	snp_fw_seq3	CAG/CGG
chr22:22890756	snp_rv_seq3	CTG/CCG
chr22:22890756	func	silent,silent,silent,silent,silent
chr22:22890756	transcript	NM_006115,NM_206953,NM_206954,NM_206955,NM_206956
chr22:22890756	genomic	.,.,.,.,.
chr22:22890756	codon	.,.,.,.,.
chr22:22890756	protein	.,.,.,.,.
chr22:22890756	worst	silent
chr22:22890756	class	silent,NON=0,SL=0,MIS=0,SYN=5,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22890756	nvar	1
chr22:22890756	var	chr22:22890756:A/G
chr22:22890792	allele_ref	T
chr22:22890792	allele_alt	C
chr22:22890792	seqdb_ref	T
chr22:22890792	snp_fw_seq3	TTG/TCG
chr22:22890792	snp_rv_seq3	CAA/CGA
chr22:22890792	func	silent,silent,silent,silent,silent
chr22:22890792	transcript	NM_006115,NM_206953,NM_206954,NM_206955,NM_206956
chr22:22890792	genomic	.,.,.,.,.
chr22:22890792	codon	.,.,.,.,.
chr22:22890792	protein	.,.,.,.,.
chr22:22890792	worst	silent
chr22:22890792	class	silent,NON=0,SL=0,MIS=0,SYN=5,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22890792	nvar	1
chr22:22890792	var	chr22:22890792:T/C
chr22:22890933	allele_ref	G
chr22:22890933	allele_alt	A
chr22:22890933	seqdb_ref	G
chr22:22890933	snp_fw_seq3	CGG/CAG
chr22:22890933	snp_rv_seq3	CCG/CTG
chr22:22890933	func	silent,silent,silent,silent,silent
chr22:22890933	transcript	NM_006115,NM_206953,NM_206954,NM_206955,NM_206956
chr22:22890933	genomic	.,.,.,.,.
chr22:22890933	codon	.,.,.,.,.
chr22:22890933	protein	.,.,.,.,.
chr22:22890933	worst	silent
chr22:22890933	class	silent,NON=0,SL=0,MIS=0,SYN=5,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22890933	nvar	1
chr22:22890933	var	chr22:22890933:G/A
chr22:22891081	allele_ref	G
chr22:22891081	allele_alt	T
chr22:22891081	seqdb_ref	G
chr22:22891081	snp_fw_seq3	AGC/ATC
chr22:22891081	snp_rv_seq3	GCT/GAT
chr22:22891081	func	intronic,intronic,intronic,intronic,intronic
chr22:22891081	transcript	NM_006115,NM_206953,NM_206954,NM_206955,NM_206956
chr22:22891081	genomic	.,.,.,.,.
chr22:22891081	codon	.,.,.,.,.
chr22:22891081	protein	.,.,.,.,.
chr22:22891081	worst	intronic
chr22:22891081	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22891081	nvar	1
chr22:22891081	var	chr22:22891081:G/T
chr22:22892308	allele_ref	G
chr22:22892308	allele_alt	C
chr22:22892308	seqdb_ref	G
chr22:22892308	snp_fw_seq3	AGT/ACT
chr22:22892308	snp_rv_seq3	ACT/AGT
chr22:22892308	func	missense,missense,missense,missense,missense
chr22:22892308	transcript	NM_006115,NM_206953,NM_206954,NM_206955,NM_206956
chr22:22892308	genomic	g.793G>C,g.793G>C,g.793G>C,g.793G>C,g.793G>C
chr22:22892308	codon	c.793CTC>GTC,c.793CTC>GTC,c.793CTC>GTC,c.793CTC>GTC,c.793CTC>GTC
chr22:22892308	protein	p.265L>V,p.265L>V,p.265L>V,p.265L>V,p.265L>V
chr22:22892308	worst	missense
chr22:22892308	class	missense,NON=0,SL=0,MIS=5,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22892308	nvar	1
chr22:22892308	var	chr22:22892308:G/C
chr22:22892335	allele_ref	G
chr22:22892335	allele_alt	A
chr22:22892335	seqdb_ref	G
chr22:22892335	snp_fw_seq3	AGG/AAG
chr22:22892335	snp_rv_seq3	CCT/CTT
chr22:22892335	func	silent,silent,silent,silent,silent
chr22:22892335	transcript	NM_006115,NM_206953,NM_206954,NM_206955,NM_206956
chr22:22892335	genomic	.,.,.,.,.
chr22:22892335	codon	.,.,.,.,.
chr22:22892335	protein	.,.,.,.,.
chr22:22892335	worst	silent
chr22:22892335	class	silent,NON=0,SL=0,MIS=0,SYN=5,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22892335	nvar	1
chr22:22892335	var	chr22:22892335:G/A
chr22:22892775	allele_ref	A
chr22:22892775	allele_alt	G
chr22:22892775	seqdb_ref	A
chr22:22892775	snp_fw_seq3	TAA/TGA
chr22:22892775	snp_rv_seq3	TTA/TCA
chr22:22892775	func	intronic,intronic,intronic,intronic,intronic
chr22:22892775	transcript	NM_006115,NM_206953,NM_206954,NM_206955,NM_206956
chr22:22892775	genomic	.,.,.,.,.
chr22:22892775	codon	.,.,.,.,.
chr22:22892775	protein	.,.,.,.,.
chr22:22892775	worst	intronic
chr22:22892775	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22892775	nvar	1
chr22:22892775	var	chr22:22892775:A/G
chr22:22893392	allele_ref	C
chr22:22893392	allele_alt	G
chr22:22893392	seqdb_ref	C
chr22:22893392	snp_fw_seq3	GCA/GGA
chr22:22893392	snp_rv_seq3	TGC/TCC
chr22:22893392	func	missense,missense,missense,missense,missense
chr22:22893392	transcript	NM_006115,NM_206953,NM_206954,NM_206955,NM_206956
chr22:22893392	genomic	g.141C>G,g.141C>G,g.141C>G,g.141C>G,g.141C>G
chr22:22893392	codon	c.141TTG>TTC,c.141TTG>TTC,c.141TTG>TTC,c.141TTG>TTC,c.141TTG>TTC
chr22:22893392	protein	p.47L>F,p.47L>F,p.47L>F,p.47L>F,p.47L>F
chr22:22893392	worst	missense
chr22:22893392	class	missense,NON=0,SL=0,MIS=5,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22893392	nvar	1
chr22:22893392	var	chr22:22893392:C/G
chr22:22899234	allele_ref	A
chr22:22899234	allele_alt	G
chr22:22899234	seqdb_ref	A
chr22:22899234	snp_fw_seq3	CAC/CGC
chr22:22899234	snp_rv_seq3	GTG/GCG
chr22:22899234	func	splice,missense,splice,missense,splice,missense,splice,missense,splice,missense
chr22:22899234	annot_details	DIST=-2,NMD=0,OFPTV=1,EXIN=3,ISEQ=AGAATG,ESEQ=GGTGTT,SPLICE_TYPE=donor,ALT=C,HGVS=c.IVS3+-2T>C,DIST=-2,NMD=0,OFPTV=1,EXIN=2,ISEQ=AGAATG,ESEQ=GGTGTT,SPLICE_TYPE=donor,ALT=C,HGVS=c.IVS2+-2T>C,DIST=-2,NMD=0,OFPTV=1,EXIN=3,ISEQ=AGAATG,ESEQ=GGTGTT,SPLICE_TYPE=donor,ALT=C,HGVS=c.IVS3+-2T>C,DIST=-2,NMD=0,OFPTV=1,EXIN=3,ISEQ=AGAATG,ESEQ=GGTGTT,SPLICE_TYPE=donor,ALT=C,HGVS=c.IVS3+-2T>C,DIST=-2,NMD=0,OFPTV=1,EXIN=3,ISEQ=AGAATG,ESEQ=GGTGTT,SPLICE_TYPE=donor,ALT=C,HGVS=c.IVS3+-2T>C
chr22:22899234	transcript	NM_006115,NM_006115,NM_206953,NM_206953,NM_206954,NM_206954,NM_206955,NM_206955,NM_206956,NM_206956
chr22:22899234	genomic	.,g.19A>G,.,g.19A>G,.,g.19A>G,.,g.19A>G,.,g.19A>G
chr22:22899234	codon	.,c.19TGG>CGG,.,c.19TGG>CGG,.,c.19TGG>CGG,.,c.19TGG>CGG,.,c.19TGG>CGG
chr22:22899234	protein	.,p.7W>R,.,p.7W>R,.,p.7W>R,.,p.7W>R,.,p.7W>R
chr22:22899234	worst	missense
chr22:22899234	class	mixed,NON=0,SL=0,MIS=5,SYN=0,ESPL=0,CSPL=0,SPL=5,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22899234	nvar	1
chr22:22899234	var	chr22:22899234:A/G
chr22:22989237	allele_ref	G
chr22:22989237	allele_alt	A
chr22:22989237	seqdb_ref	G
chr22:22989237	snp_fw_seq3	GGT/GAT
chr22:22989237	snp_rv_seq3	ACC/ATC
chr22:22989237	func	missense
chr22:22989237	transcript	NM_199127
chr22:22989237	genomic	g.190G>A
chr22:22989237	codon	c.190GTC>ATC
chr22:22989237	protein	p.64V>I
chr22:22989237	worst	missense
chr22:22989237	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22989237	nvar	1
chr22:22989237	var	chr22:22989237:G/A
chr22:22989270	allele_ref	G
chr22:22989270	allele_alt	A
chr22:22989270	seqdb_ref	G
chr22:22989270	snp_fw_seq3	TGA/TAA
chr22:22989270	snp_rv_seq3	TCA/TTA
chr22:22989270	func	missense
chr22:22989270	transcript	NM_199127
chr22:22989270	genomic	g.223G>A
chr22:22989270	codon	c.223GAT>AAT
chr22:22989270	protein	p.75D>N
chr22:22989270	worst	missense
chr22:22989270	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22989270	nvar	1
chr22:22989270	var	chr22:22989270:G/A
chr22:22989281	allele_ref	T
chr22:22989281	allele_alt	C
chr22:22989281	seqdb_ref	T
chr22:22989281	snp_fw_seq3	ATG/ACG
chr22:22989281	snp_rv_seq3	CAT/CGT
chr22:22989281	func	silent
chr22:22989281	transcript	NM_199127
chr22:22989281	genomic	.
chr22:22989281	codon	.
chr22:22989281	protein	.
chr22:22989281	worst	silent
chr22:22989281	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22989281	nvar	1
chr22:22989281	var	chr22:22989281:T/C
chr22:22989520	allele_ref	G
chr22:22989520	allele_alt	T
chr22:22989520	seqdb_ref	G
chr22:22989520	snp_fw_seq3	TGG/TTG
chr22:22989520	snp_rv_seq3	CCA/CAA
chr22:22989520	func	intronic
chr22:22989520	transcript	NM_199127
chr22:22989520	genomic	.
chr22:22989520	codon	.
chr22:22989520	protein	.
chr22:22989520	worst	intronic
chr22:22989520	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:22989520	nvar	1
chr22:22989520	var	chr22:22989520:G/T
chr22:23401684	allele_ref	G
chr22:23401684	allele_alt	T
chr22:23401684	seqdb_ref	G
chr22:23401684	snp_fw_seq3	CGC/CTC
chr22:23401684	snp_rv_seq3	GCG/GAG
chr22:23401684	func	silent
chr22:23401684	transcript	NM_014433
chr22:23401684	genomic	.
chr22:23401684	codon	.
chr22:23401684	protein	.
chr22:23401684	worst	silent
chr22:23401684	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23401684	nvar	1
chr22:23401684	var	chr22:23401684:G/T
chr22:23401696	allele_ref	C
chr22:23401696	allele_alt	T
chr22:23401696	seqdb_ref	C
chr22:23401696	snp_fw_seq3	TCG/TTG
chr22:23401696	snp_rv_seq3	CGA/CAA
chr22:23401696	func	missense
chr22:23401696	transcript	NM_014433
chr22:23401696	genomic	g.991C>T
chr22:23401696	codon	c.991GAA>AAA
chr22:23401696	protein	p.331E>K
chr22:23401696	worst	missense
chr22:23401696	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23401696	nvar	1
chr22:23401696	var	chr22:23401696:C/T
chr22:23401750	allele_ref	C
chr22:23401750	allele_alt	T
chr22:23401750	seqdb_ref	C
chr22:23401750	snp_fw_seq3	ACG/ATG
chr22:23401750	snp_rv_seq3	CGT/CAT
chr22:23401750	func	missense
chr22:23401750	transcript	NM_014433
chr22:23401750	genomic	g.937C>T
chr22:23401750	codon	c.937GTG>ATG
chr22:23401750	protein	p.313V>M
chr22:23401750	worst	missense
chr22:23401750	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23401750	nvar	1
chr22:23401750	var	chr22:23401750:C/T
chr22:23401770	allele_ref	C
chr22:23401770	allele_alt	T
chr22:23401770	seqdb_ref	C
chr22:23401770	snp_fw_seq3	GCG/GTG
chr22:23401770	snp_rv_seq3	CGC/CAC
chr22:23401770	func	missense
chr22:23401770	transcript	NM_014433
chr22:23401770	genomic	g.917C>T
chr22:23401770	codon	c.917CGC>CAC
chr22:23401770	protein	p.306R>H
chr22:23401770	worst	missense
chr22:23401770	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23401770	nvar	1
chr22:23401770	var	chr22:23401770:C/T
chr22:23401775	allele_ref	C
chr22:23401775	allele_alt	T
chr22:23401775	seqdb_ref	C
chr22:23401775	snp_fw_seq3	CCT/CTT
chr22:23401775	snp_rv_seq3	AGG/AAG
chr22:23401775	func	silent
chr22:23401775	transcript	NM_014433
chr22:23401775	genomic	.
chr22:23401775	codon	.
chr22:23401775	protein	.
chr22:23401775	worst	silent
chr22:23401775	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23401775	nvar	1
chr22:23401775	var	chr22:23401775:C/T
chr22:23403967	allele_ref	G
chr22:23403967	allele_alt	A
chr22:23403967	seqdb_ref	G
chr22:23403967	snp_fw_seq3	CGG/CAG
chr22:23403967	snp_rv_seq3	CCG/CTG
chr22:23403967	func	intronic
chr22:23403967	transcript	NM_014433
chr22:23403967	genomic	.
chr22:23403967	codon	.
chr22:23403967	protein	.
chr22:23403967	worst	intronic
chr22:23403967	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23403967	nvar	1
chr22:23403967	var	chr22:23403967:G/A
chr22:23406302	allele_ref	T
chr22:23406302	allele_alt	C
chr22:23406302	seqdb_ref	T
chr22:23406302	snp_fw_seq3	CTC/CCC
chr22:23406302	snp_rv_seq3	GAG/GGG
chr22:23406302	func	missense
chr22:23406302	transcript	NM_014433
chr22:23406302	genomic	g.431T>C
chr22:23406302	codon	c.431GAG>GGG
chr22:23406302	protein	p.144E>G
chr22:23406302	worst	missense
chr22:23406302	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23406302	nvar	1
chr22:23406302	var	chr22:23406302:T/C
chr22:23438116	allele_ref	C
chr22:23438116	allele_alt	T
chr22:23438116	seqdb_ref	C
chr22:23438116	snp_fw_seq3	TCG/TTG
chr22:23438116	snp_rv_seq3	CGA/CAA
chr22:23438116	func	silent,intronic
chr22:23438116	transcript	NM_002073,NM_014433
chr22:23438116	genomic	.,.
chr22:23438116	codon	.,.
chr22:23438116	protein	.,.
chr22:23438116	worst	silent
chr22:23438116	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23438116	nvar	1
chr22:23438116	var	chr22:23438116:C/T
chr22:23438191	allele_ref	C
chr22:23438191	allele_alt	T
chr22:23438191	seqdb_ref	C
chr22:23438191	snp_fw_seq3	ACG/ATG
chr22:23438191	snp_rv_seq3	CGT/CAT
chr22:23438191	func	silent,intronic
chr22:23438191	transcript	NM_002073,NM_014433
chr22:23438191	genomic	.,.
chr22:23438191	codon	.,.
chr22:23438191	protein	.,.
chr22:23438191	worst	silent
chr22:23438191	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23438191	nvar	1
chr22:23438191	var	chr22:23438191:C/T
chr22:23482460	allele_ref	A
chr22:23482460	allele_alt	G
chr22:23482460	seqdb_ref	A
chr22:23482460	snp_fw_seq3	AAG/AGG
chr22:23482460	snp_rv_seq3	CTT/CCT
chr22:23482460	func	silent
chr22:23482460	transcript	NM_014433
chr22:23482460	genomic	.
chr22:23482460	codon	.
chr22:23482460	protein	.
chr22:23482460	worst	silent
chr22:23482460	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23482460	nvar	1
chr22:23482460	var	chr22:23482460:A/G
chr22:23482482	allele_ref	C
chr22:23482482	allele_alt	T
chr22:23482482	seqdb_ref	C
chr22:23482482	snp_fw_seq3	TCG/TTG
chr22:23482482	snp_rv_seq3	CGA/CAA
chr22:23482482	func	silent
chr22:23482482	transcript	NM_014433
chr22:23482482	genomic	.
chr22:23482482	codon	.
chr22:23482482	protein	.
chr22:23482482	worst	silent
chr22:23482482	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23482482	nvar	1
chr22:23482482	var	chr22:23482482:C/T
chr22:23487711	allele_ref	G
chr22:23487711	allele_alt	T
chr22:23487711	seqdb_ref	G
chr22:23487711	snp_fw_seq3	CGG/CTG
chr22:23487711	snp_rv_seq3	CCG/CAG
chr22:23487711	func	silent
chr22:23487711	transcript	NM_004914
chr22:23487711	genomic	.
chr22:23487711	codon	.
chr22:23487711	protein	.
chr22:23487711	worst	silent
chr22:23487711	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23487711	nvar	1
chr22:23487711	var	chr22:23487711:G/T
chr22:23492236	allele_ref	C
chr22:23492236	allele_alt	T
chr22:23492236	seqdb_ref	C
chr22:23492236	snp_fw_seq3	TCT/TTT
chr22:23492236	snp_rv_seq3	AGA/AAA
chr22:23492236	func	intronic
chr22:23492236	transcript	NM_004914
chr22:23492236	genomic	.
chr22:23492236	codon	.
chr22:23492236	protein	.
chr22:23492236	worst	intronic
chr22:23492236	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23492236	nvar	1
chr22:23492236	var	chr22:23492236:C/T
chr22:23494619	allele_ref	C
chr22:23494619	allele_alt	T
chr22:23494619	seqdb_ref	C
chr22:23494619	snp_fw_seq3	CCG/CTG
chr22:23494619	snp_rv_seq3	CGG/CAG
chr22:23494619	func	intronic
chr22:23494619	transcript	NM_004914
chr22:23494619	genomic	.
chr22:23494619	codon	.
chr22:23494619	protein	.
chr22:23494619	worst	intronic
chr22:23494619	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23494619	nvar	1
chr22:23494619	var	chr22:23494619:C/T
chr22:23503082	allele_ref	A
chr22:23503082	allele_alt	T
chr22:23503082	seqdb_ref	A
chr22:23503082	snp_fw_seq3	CAT/CTT
chr22:23503082	snp_rv_seq3	ATG/AAG
chr22:23503082	func	silent
chr22:23503082	transcript	NM_004914
chr22:23503082	genomic	.
chr22:23503082	codon	.
chr22:23503082	protein	.
chr22:23503082	worst	silent
chr22:23503082	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23503082	nvar	1
chr22:23503082	var	chr22:23503082:A/T
chr22:23503121	allele_ref	G
chr22:23503121	allele_alt	A
chr22:23503121	seqdb_ref	G
chr22:23503121	snp_fw_seq3	CGG/CAG
chr22:23503121	snp_rv_seq3	CCG/CTG
chr22:23503121	func	silent
chr22:23503121	transcript	NM_004914
chr22:23503121	genomic	.
chr22:23503121	codon	.
chr22:23503121	protein	.
chr22:23503121	worst	silent
chr22:23503121	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23503121	nvar	1
chr22:23503121	var	chr22:23503121:G/A
chr22:23503170	allele_ref	A
chr22:23503170	allele_alt	G
chr22:23503170	seqdb_ref	A
chr22:23503170	snp_fw_seq3	CAA/CGA
chr22:23503170	snp_rv_seq3	TTG/TCG
chr22:23503170	func	missense
chr22:23503170	transcript	NM_004914
chr22:23503170	genomic	g.922A>G
chr22:23503170	codon	c.922AAT>GAT
chr22:23503170	protein	p.308N>D
chr22:23503170	worst	missense
chr22:23503170	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23503170	nvar	1
chr22:23503170	var	chr22:23503170:A/G
chr22:23503205	allele_ref	G
chr22:23503205	allele_alt	C
chr22:23503205	seqdb_ref	G
chr22:23503205	snp_fw_seq3	GGG/GCG
chr22:23503205	snp_rv_seq3	CCC/CGC
chr22:23503205	func	intronic
chr22:23503205	transcript	NM_004914
chr22:23503205	genomic	.
chr22:23503205	codon	.
chr22:23503205	protein	.
chr22:23503205	worst	intronic
chr22:23503205	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23503205	nvar	1
chr22:23503205	var	chr22:23503205:G/C
chr22:23503651	allele_ref	C
chr22:23503651	allele_alt	T
chr22:23503651	seqdb_ref	C
chr22:23503651	snp_fw_seq3	CCT/CTT
chr22:23503651	snp_rv_seq3	AGG/AAG
chr22:23503651	func	intronic
chr22:23503651	transcript	NM_004914
chr22:23503651	genomic	.
chr22:23503651	codon	.
chr22:23503651	protein	.
chr22:23503651	worst	intronic
chr22:23503651	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23503651	nvar	1
chr22:23503651	var	chr22:23503651:C/T
chr22:23503756	allele_ref	G
chr22:23503756	allele_alt	A
chr22:23503756	seqdb_ref	G
chr22:23503756	snp_fw_seq3	GGG/GAG
chr22:23503756	snp_rv_seq3	CCC/CTC
chr22:23503756	func	3-UTR
chr22:23503756	transcript	NM_004914
chr22:23503756	genomic	.
chr22:23503756	codon	.
chr22:23503756	protein	.
chr22:23503756	worst	UTR3
chr22:23503756	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:23503756	nvar	1
chr22:23503756	var	chr22:23503756:G/A
chr22:23523139	allele_ref	G
chr22:23523139	allele_alt	A
chr22:23523139	seqdb_ref	G
chr22:23523139	snp_fw_seq3	CGG/CAG
chr22:23523139	snp_rv_seq3	CCG/CTG
chr22:23523139	func	5-UTR,5-UTR
chr22:23523139	transcript	NM_004327,NM_021574
chr22:23523139	genomic	.,.
chr22:23523139	codon	.,.
chr22:23523139	protein	.,.
chr22:23523139	worst	UTR5
chr22:23523139	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=2,UTR3=0,npcRNA=0
chr22:23523139	nvar	1
chr22:23523139	var	chr22:23523139:G/A
chr22:23523309	allele_ref	C
chr22:23523309	allele_alt	T
chr22:23523309	seqdb_ref	C
chr22:23523309	snp_fw_seq3	TCC/TTC
chr22:23523309	snp_rv_seq3	GGA/GAA
chr22:23523309	func	silent,silent
chr22:23523309	transcript	NM_004327,NM_021574
chr22:23523309	genomic	.,.
chr22:23523309	codon	.,.
chr22:23523309	protein	.,.
chr22:23523309	worst	silent
chr22:23523309	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23523309	nvar	1
chr22:23523309	var	chr22:23523309:C/T
chr22:23523630	allele_ref	C
chr22:23523630	allele_alt	A
chr22:23523630	seqdb_ref	C
chr22:23523630	snp_fw_seq3	TCC/TAC
chr22:23523630	snp_rv_seq3	GGA/GTA
chr22:23523630	func	silent,silent
chr22:23523630	transcript	NM_004327,NM_021574
chr22:23523630	genomic	.,.
chr22:23523630	codon	.,.
chr22:23523630	protein	.,.
chr22:23523630	worst	silent
chr22:23523630	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23523630	nvar	1
chr22:23523630	var	chr22:23523630:C/A
chr22:23523753	allele_ref	C
chr22:23523753	allele_alt	T
chr22:23523753	seqdb_ref	C
chr22:23523753	snp_fw_seq3	CCC/CTC
chr22:23523753	snp_rv_seq3	GGG/GAG
chr22:23523753	func	silent,silent
chr22:23523753	transcript	NM_004327,NM_021574
chr22:23523753	genomic	.,.
chr22:23523753	codon	.,.
chr22:23523753	protein	.,.
chr22:23523753	worst	silent
chr22:23523753	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23523753	nvar	1
chr22:23523753	var	chr22:23523753:C/T
chr22:23523969	allele_ref	G
chr22:23523969	allele_alt	A
chr22:23523969	seqdb_ref	G
chr22:23523969	snp_fw_seq3	TGG/TAG
chr22:23523969	snp_rv_seq3	CCA/CTA
chr22:23523969	func	silent,silent
chr22:23523969	transcript	NM_004327,NM_021574
chr22:23523969	genomic	.,.
chr22:23523969	codon	.,.
chr22:23523969	protein	.,.
chr22:23523969	worst	silent
chr22:23523969	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23523969	nvar	1
chr22:23523969	var	chr22:23523969:G/A
chr22:23603684	allele_ref	A
chr22:23603684	allele_alt	G
chr22:23603684	seqdb_ref	A
chr22:23603684	snp_fw_seq3	CAG/CGG
chr22:23603684	snp_rv_seq3	CTG/CCG
chr22:23603684	func	missense,missense
chr22:23603684	transcript	NM_004327,NM_021574
chr22:23603684	genomic	g.1709A>G,g.1709A>G
chr22:23603684	codon	c.1709CAG>CGG,c.1709CAG>CGG
chr22:23603684	protein	p.570Q>R,p.570Q>R
chr22:23603684	worst	missense
chr22:23603684	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23603684	nvar	1
chr22:23603684	var	chr22:23603684:A/G
chr22:23615346	allele_ref	G
chr22:23615346	allele_alt	A
chr22:23615346	seqdb_ref	g
chr22:23615346	snp_fw_seq3	cgg/cAg
chr22:23615346	snp_rv_seq3	ccg/cTg
chr22:23615346	func	intronic,intronic
chr22:23615346	transcript	NM_004327,NM_021574
chr22:23615346	genomic	.,.
chr22:23615346	codon	.,.
chr22:23615346	protein	.,.
chr22:23615346	worst	intronic
chr22:23615346	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23615346	nvar	1
chr22:23615346	var	chr22:23615346:G/A
chr22:23615801	allele_ref	A
chr22:23615801	allele_alt	G
chr22:23615801	seqdb_ref	A
chr22:23615801	snp_fw_seq3	AAG/AGG
chr22:23615801	snp_rv_seq3	CTT/CCT
chr22:23615801	func	intronic,intronic
chr22:23615801	transcript	NM_004327,NM_021574
chr22:23615801	genomic	.,.
chr22:23615801	codon	.,.
chr22:23615801	protein	.,.
chr22:23615801	worst	intronic
chr22:23615801	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23615801	nvar	1
chr22:23615801	var	chr22:23615801:A/G
chr22:23626202	allele_ref	G
chr22:23626202	allele_alt	T
chr22:23626202	seqdb_ref	G
chr22:23626202	snp_fw_seq3	TGG/TTG
chr22:23626202	snp_rv_seq3	CCA/CAA
chr22:23626202	func	silent,silent
chr22:23626202	transcript	NM_004327,NM_021574
chr22:23626202	genomic	.,.
chr22:23626202	codon	.,.
chr22:23626202	protein	.,.
chr22:23626202	worst	silent
chr22:23626202	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23626202	nvar	1
chr22:23626202	var	chr22:23626202:G/T
chr22:23627238	allele_ref	C
chr22:23627238	allele_alt	A
chr22:23627238	seqdb_ref	C
chr22:23627238	snp_fw_seq3	ACT/AAT
chr22:23627238	snp_rv_seq3	AGT/ATT
chr22:23627238	func	missense,missense
chr22:23627238	transcript	NM_004327,NM_021574
chr22:23627238	genomic	g.2256C>A,g.2256C>A
chr22:23627238	codon	c.2256GAC>GAA,c.2256GAC>GAA
chr22:23627238	protein	p.752D>E,p.752D>E
chr22:23627238	worst	missense
chr22:23627238	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23627238	nvar	1
chr22:23627238	var	chr22:23627238:C/A
chr22:23627369	allele_ref	A
chr22:23627369	allele_alt	G
chr22:23627369	seqdb_ref	A
chr22:23627369	snp_fw_seq3	AAT/AGT
chr22:23627369	snp_rv_seq3	ATT/ACT
chr22:23627369	func	missense,missense
chr22:23627369	transcript	NM_004327,NM_021574
chr22:23627369	genomic	g.2387A>G,g.2387A>G
chr22:23627369	codon	c.2387AAT>AGT,c.2387AAT>AGT
chr22:23627369	protein	p.796N>S,p.796N>S
chr22:23627369	worst	missense
chr22:23627369	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23627369	nvar	1
chr22:23627369	var	chr22:23627369:A/G
chr22:23627434	allele_ref	G
chr22:23627434	allele_alt	A
chr22:23627434	seqdb_ref	G
chr22:23627434	snp_fw_seq3	GGC/GAC
chr22:23627434	snp_rv_seq3	GCC/GTC
chr22:23627434	func	intronic,intronic
chr22:23627434	transcript	NM_004327,NM_021574
chr22:23627434	genomic	.,.
chr22:23627434	codon	.,.
chr22:23627434	protein	.,.
chr22:23627434	worst	intronic
chr22:23627434	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23627434	nvar	1
chr22:23627434	var	chr22:23627434:G/A
chr22:23629476	allele_ref	G
chr22:23629476	allele_alt	C
chr22:23629476	seqdb_ref	G
chr22:23629476	snp_fw_seq3	TGC/TCC
chr22:23629476	snp_rv_seq3	GCA/GGA
chr22:23629476	func	intronic,intronic
chr22:23629476	transcript	NM_004327,NM_021574
chr22:23629476	genomic	.,.
chr22:23629476	codon	.,.
chr22:23629476	protein	.,.
chr22:23629476	worst	intronic
chr22:23629476	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23629476	nvar	1
chr22:23629476	var	chr22:23629476:G/C
chr22:23631801	allele_ref	T
chr22:23631801	allele_alt	C
chr22:23631801	seqdb_ref	T
chr22:23631801	snp_fw_seq3	ATA/ACA
chr22:23631801	snp_rv_seq3	TAT/TGT
chr22:23631801	func	silent,silent
chr22:23631801	transcript	NM_004327,NM_021574
chr22:23631801	genomic	.,.
chr22:23631801	codon	.,.
chr22:23631801	protein	.,.
chr22:23631801	worst	silent
chr22:23631801	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23631801	nvar	1
chr22:23631801	var	chr22:23631801:T/C
chr22:23631823	allele_ref	T
chr22:23631823	allele_alt	C
chr22:23631823	seqdb_ref	T
chr22:23631823	snp_fw_seq3	TTT/TCT
chr22:23631823	snp_rv_seq3	AAA/AGA
chr22:23631823	func	intronic,intronic
chr22:23631823	transcript	NM_004327,NM_021574
chr22:23631823	genomic	.,.
chr22:23631823	codon	.,.
chr22:23631823	protein	.,.
chr22:23631823	worst	intronic
chr22:23631823	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23631823	nvar	1
chr22:23631823	var	chr22:23631823:T/C
chr22:23632513	allele_ref	A
chr22:23632513	allele_alt	G
chr22:23632513	seqdb_ref	A
chr22:23632513	snp_fw_seq3	GAT/GGT
chr22:23632513	snp_rv_seq3	ATC/ACC
chr22:23632513	func	intronic,intronic
chr22:23632513	transcript	NM_004327,NM_021574
chr22:23632513	genomic	.,.
chr22:23632513	codon	.,.
chr22:23632513	protein	.,.
chr22:23632513	worst	intronic
chr22:23632513	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23632513	nvar	1
chr22:23632513	var	chr22:23632513:A/G
chr22:23632621	allele_ref	G
chr22:23632621	allele_alt	C
chr22:23632621	seqdb_ref	G
chr22:23632621	snp_fw_seq3	GGA/GCA
chr22:23632621	snp_rv_seq3	TCC/TGC
chr22:23632621	func	intronic,intronic
chr22:23632621	transcript	NM_004327,NM_021574
chr22:23632621	genomic	.,.
chr22:23632621	codon	.,.
chr22:23632621	protein	.,.
chr22:23632621	worst	intronic
chr22:23632621	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23632621	nvar	1
chr22:23632621	var	chr22:23632621:G/C
chr22:23632636	allele_ref	C
chr22:23632636	allele_alt	A
chr22:23632636	seqdb_ref	C
chr22:23632636	snp_fw_seq3	CCG/CAG
chr22:23632636	snp_rv_seq3	CGG/CTG
chr22:23632636	func	intronic,intronic
chr22:23632636	transcript	NM_004327,NM_021574
chr22:23632636	genomic	.,.
chr22:23632636	codon	.,.
chr22:23632636	protein	.,.
chr22:23632636	worst	intronic
chr22:23632636	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23632636	nvar	1
chr22:23632636	var	chr22:23632636:C/A
chr22:23637200	allele_ref	T
chr22:23637200	allele_alt	C
chr22:23637200	seqdb_ref	T
chr22:23637200	snp_fw_seq3	TTG/TCG
chr22:23637200	snp_rv_seq3	CAA/CGA
chr22:23637200	func	intronic,intronic
chr22:23637200	transcript	NM_004327,NM_021574
chr22:23637200	genomic	.,.
chr22:23637200	codon	.,.
chr22:23637200	protein	.,.
chr22:23637200	worst	intronic
chr22:23637200	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23637200	nvar	1
chr22:23637200	var	chr22:23637200:T/C
chr22:23653880	allele_ref	G
chr22:23653880	allele_alt	A
chr22:23653880	seqdb_ref	G
chr22:23653880	snp_fw_seq3	CGC/CAC
chr22:23653880	snp_rv_seq3	GCG/GTG
chr22:23653880	func	intronic,splice,intronic,splice
chr22:23653880	annot_details	DIST=-4,NMD=0,OFPTV=1,EXIN=19,ISEQ=CCGCAG,ESEQ=GAGAGA,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS19+-4G>A,DIST=-4,NMD=0,OFPTV=1,EXIN=18,ISEQ=CCGCAG,ESEQ=GAGAGA,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS18+-4G>A
chr22:23653880	transcript	NM_004327,NM_004327,NM_021574,NM_021574
chr22:23653880	genomic	.,.,.,.
chr22:23653880	codon	.,.,.,.
chr22:23653880	protein	.,.,.,.
chr22:23653880	worst	splice
chr22:23653880	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23653880	nvar	1
chr22:23653880	var	chr22:23653880:G/A
chr22:23655084	allele_ref	C
chr22:23655084	allele_alt	T
chr22:23655084	seqdb_ref	C
chr22:23655084	snp_fw_seq3	ACG/ATG
chr22:23655084	snp_rv_seq3	CGT/CAT
chr22:23655084	func	silent,silent
chr22:23655084	transcript	NM_004327,NM_021574
chr22:23655084	genomic	.,.
chr22:23655084	codon	.,.
chr22:23655084	protein	.,.
chr22:23655084	worst	silent
chr22:23655084	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23655084	nvar	1
chr22:23655084	var	chr22:23655084:C/T
chr22:23655219	allele_ref	G
chr22:23655219	allele_alt	A
chr22:23655219	seqdb_ref	G
chr22:23655219	snp_fw_seq3	GGA/GAA
chr22:23655219	snp_rv_seq3	TCC/TTC
chr22:23655219	func	intronic,intronic
chr22:23655219	transcript	NM_004327,NM_021574
chr22:23655219	genomic	.,.
chr22:23655219	codon	.,.
chr22:23655219	protein	.,.
chr22:23655219	worst	intronic
chr22:23655219	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23655219	nvar	1
chr22:23655219	var	chr22:23655219:G/A
chr22:23656148	allele_ref	T
chr22:23656148	allele_alt	G
chr22:23656148	seqdb_ref	T
chr22:23656148	snp_fw_seq3	TTC/TGC
chr22:23656148	snp_rv_seq3	GAA/GCA
chr22:23656148	func	intronic,intronic
chr22:23656148	transcript	NM_004327,NM_021574
chr22:23656148	genomic	.,.
chr22:23656148	codon	.,.
chr22:23656148	protein	.,.
chr22:23656148	worst	intronic
chr22:23656148	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23656148	nvar	1
chr22:23656148	var	chr22:23656148:T/G
chr22:23657735	allele_ref	G
chr22:23657735	allele_alt	A
chr22:23657735	seqdb_ref	G
chr22:23657735	snp_fw_seq3	CGG/CAG
chr22:23657735	snp_rv_seq3	CCG/CTG
chr22:23657735	func	3-UTR,3-UTR
chr22:23657735	transcript	NM_004327,NM_021574
chr22:23657735	genomic	.,.
chr22:23657735	codon	.,.
chr22:23657735	protein	.,.
chr22:23657735	worst	UTR3
chr22:23657735	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:23657735	nvar	1
chr22:23657735	var	chr22:23657735:G/A
chr22:23915529	allele_ref	C
chr22:23915529	allele_alt	T
chr22:23915529	seqdb_ref	C
chr22:23915529	snp_fw_seq3	GCG/GTG
chr22:23915529	snp_rv_seq3	CGC/CAC
chr22:23915529	func	missense,3-UTR
chr22:23915529	transcript	NM_020070,NM_152855
chr22:23915529	genomic	g.566C>T,.
chr22:23915529	codon	c.566CGC>CAC,.
chr22:23915529	protein	p.189R>H,.
chr22:23915529	worst	missense
chr22:23915529	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:23915529	nvar	1
chr22:23915529	var	chr22:23915529:C/T
chr22:23915546	allele_ref	G
chr22:23915546	allele_alt	A
chr22:23915546	seqdb_ref	G
chr22:23915546	snp_fw_seq3	CGG/CAG
chr22:23915546	snp_rv_seq3	CCG/CTG
chr22:23915546	func	silent,3-UTR
chr22:23915546	transcript	NM_020070,NM_152855
chr22:23915546	genomic	.,.
chr22:23915546	codon	.,.
chr22:23915546	protein	.,.
chr22:23915546	worst	silent
chr22:23915546	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:23915546	nvar	1
chr22:23915546	var	chr22:23915546:G/A
chr22:23915588	allele_ref	G
chr22:23915588	allele_alt	A
chr22:23915588	seqdb_ref	G
chr22:23915588	snp_fw_seq3	TGC/TAC
chr22:23915588	snp_rv_seq3	GCA/GTA
chr22:23915588	func	silent,3-UTR
chr22:23915588	transcript	NM_020070,NM_152855
chr22:23915588	genomic	.,.
chr22:23915588	codon	.,.
chr22:23915588	protein	.,.
chr22:23915588	worst	silent
chr22:23915588	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:23915588	nvar	1
chr22:23915588	var	chr22:23915588:G/A
chr22:23915610	allele_ref	A
chr22:23915610	allele_alt	T
chr22:23915610	seqdb_ref	A
chr22:23915610	snp_fw_seq3	CAT/CTT
chr22:23915610	snp_rv_seq3	ATG/AAG
chr22:23915610	func	missense,3-UTR
chr22:23915610	transcript	NM_020070,NM_152855
chr22:23915610	genomic	g.485A>T,.
chr22:23915610	codon	c.485ATG>AAG,.
chr22:23915610	protein	p.162M>K,.
chr22:23915610	worst	missense
chr22:23915610	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:23915610	nvar	1
chr22:23915610	var	chr22:23915610:A/T
chr22:23915812	allele_ref	G
chr22:23915812	allele_alt	A
chr22:23915812	seqdb_ref	G
chr22:23915812	snp_fw_seq3	AGT/AAT
chr22:23915812	snp_rv_seq3	ACT/ATT
chr22:23915812	func	intronic,intronic
chr22:23915812	transcript	NM_020070,NM_152855
chr22:23915812	genomic	.,.
chr22:23915812	codon	.,.
chr22:23915812	protein	.,.
chr22:23915812	worst	intronic
chr22:23915812	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23915812	nvar	1
chr22:23915812	var	chr22:23915812:G/A
chr22:23917176	allele_ref	G
chr22:23917176	allele_alt	A
chr22:23917176	seqdb_ref	G
chr22:23917176	snp_fw_seq3	CGC/CAC
chr22:23917176	snp_rv_seq3	GCG/GTG
chr22:23917176	func	silent,intronic
chr22:23917176	transcript	NM_020070,NM_152855
chr22:23917176	genomic	.,.
chr22:23917176	codon	.,.
chr22:23917176	protein	.,.
chr22:23917176	worst	silent
chr22:23917176	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23917176	nvar	1
chr22:23917176	var	chr22:23917176:G/A
chr22:23917192	allele_ref	G
chr22:23917192	allele_alt	T
chr22:23917192	seqdb_ref	G
chr22:23917192	snp_fw_seq3	CGT/CTT
chr22:23917192	snp_rv_seq3	ACG/AAG
chr22:23917192	func	missense,intronic
chr22:23917192	transcript	NM_020070,NM_152855
chr22:23917192	genomic	g.284G>T,.
chr22:23917192	codon	c.284ACG>AAG,.
chr22:23917192	protein	p.95T>K,.
chr22:23917192	worst	missense
chr22:23917192	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23917192	nvar	1
chr22:23917192	var	chr22:23917192:G/T
chr22:23917200	allele_ref	G
chr22:23917200	allele_alt	A
chr22:23917200	seqdb_ref	G
chr22:23917200	snp_fw_seq3	AGT/AAT
chr22:23917200	snp_rv_seq3	ACT/ATT
chr22:23917200	func	silent,intronic
chr22:23917200	transcript	NM_020070,NM_152855
chr22:23917200	genomic	.,.
chr22:23917200	codon	.,.
chr22:23917200	protein	.,.
chr22:23917200	worst	silent
chr22:23917200	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23917200	nvar	1
chr22:23917200	var	chr22:23917200:G/A
chr22:23955464	allele_ref	G
chr22:23955464	allele_alt	A
chr22:23955464	seqdb_ref	G
chr22:23955464	snp_fw_seq3	CGT/CAT
chr22:23955464	snp_rv_seq3	ACG/ATG
chr22:23955464	func	intronic
chr22:23955464	transcript	NM_016449
chr22:23955464	genomic	.
chr22:23955464	codon	.
chr22:23955464	protein	.
chr22:23955464	worst	intronic
chr22:23955464	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23955464	nvar	1
chr22:23955464	var	chr22:23955464:G/A
chr22:23955509	allele_ref	G
chr22:23955509	allele_alt	C
chr22:23955509	seqdb_ref	G
chr22:23955509	snp_fw_seq3	AGC/ACC
chr22:23955509	snp_rv_seq3	GCT/GGT
chr22:23955509	func	missense
chr22:23955509	transcript	NM_016449
chr22:23955509	genomic	g.652G>C
chr22:23955509	codon	c.652CTG>GTG
chr22:23955509	protein	p.218L>V
chr22:23955509	worst	missense
chr22:23955509	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23955509	nvar	1
chr22:23955509	var	chr22:23955509:G/C
chr22:23955797	allele_ref	C
chr22:23955797	allele_alt	T
chr22:23955797	seqdb_ref	C
chr22:23955797	snp_fw_seq3	TCA/TTA
chr22:23955797	snp_rv_seq3	TGA/TAA
chr22:23955797	func	intronic
chr22:23955797	transcript	NM_016449
chr22:23955797	genomic	.
chr22:23955797	codon	.
chr22:23955797	protein	.
chr22:23955797	worst	intronic
chr22:23955797	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23955797	nvar	1
chr22:23955797	var	chr22:23955797:C/T
chr22:23955895	allele_ref	C
chr22:23955895	allele_alt	T
chr22:23955895	seqdb_ref	C
chr22:23955895	snp_fw_seq3	GCG/GTG
chr22:23955895	snp_rv_seq3	CGC/CAC
chr22:23955895	func	intronic
chr22:23955895	transcript	NM_016449
chr22:23955895	genomic	.
chr22:23955895	codon	.
chr22:23955895	protein	.
chr22:23955895	worst	intronic
chr22:23955895	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23955895	nvar	1
chr22:23955895	var	chr22:23955895:C/T
chr22:23959054	allele_ref	G
chr22:23959054	allele_alt	A
chr22:23959054	seqdb_ref	G
chr22:23959054	snp_fw_seq3	CGG/CAG
chr22:23959054	snp_rv_seq3	CCG/CTG
chr22:23959054	func	missense
chr22:23959054	transcript	NM_016449
chr22:23959054	genomic	g.527G>A
chr22:23959054	codon	c.527CCG>CTG
chr22:23959054	protein	p.176P>L
chr22:23959054	worst	missense
chr22:23959054	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23959054	nvar	1
chr22:23959054	var	chr22:23959054:G/A
chr22:23962789	allele_ref	C
chr22:23962789	allele_alt	T
chr22:23962789	seqdb_ref	C
chr22:23962789	snp_fw_seq3	ACG/ATG
chr22:23962789	snp_rv_seq3	CGT/CAT
chr22:23962789	func	missense
chr22:23962789	transcript	NM_016449
chr22:23962789	genomic	g.398C>T
chr22:23962789	codon	c.398CGT>CAT
chr22:23962789	protein	p.133R>H
chr22:23962789	worst	missense
chr22:23962789	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23962789	nvar	1
chr22:23962789	var	chr22:23962789:C/T
chr22:23964272	allele_ref	T
chr22:23964272	allele_alt	C
chr22:23964272	seqdb_ref	T
chr22:23964272	snp_fw_seq3	GTC/GCC
chr22:23964272	snp_rv_seq3	GAC/GGC
chr22:23964272	func	intronic
chr22:23964272	transcript	NM_016449
chr22:23964272	genomic	.
chr22:23964272	codon	.
chr22:23964272	protein	.
chr22:23964272	worst	intronic
chr22:23964272	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23964272	nvar	1
chr22:23964272	var	chr22:23964272:T/C
chr22:23974182	allele_ref	T
chr22:23974182	allele_alt	C
chr22:23974182	seqdb_ref	T
chr22:23974182	snp_fw_seq3	GTT/GCT
chr22:23974182	snp_rv_seq3	AAC/AGC
chr22:23974182	func	missense
chr22:23974182	transcript	NM_016449
chr22:23974182	genomic	g.29T>C
chr22:23974182	codon	c.29AAC>AGC
chr22:23974182	protein	p.10N>S
chr22:23974182	worst	missense
chr22:23974182	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23974182	nvar	1
chr22:23974182	var	chr22:23974182:T/C
chr22:23974200	allele_ref	A
chr22:23974200	allele_alt	G
chr22:23974200	seqdb_ref	A
chr22:23974200	snp_fw_seq3	TAT/TGT
chr22:23974200	snp_rv_seq3	ATA/ACA
chr22:23974200	func	missense
chr22:23974200	transcript	NM_016449
chr22:23974200	genomic	g.11A>G
chr22:23974200	codon	c.11ATA>ACA
chr22:23974200	protein	p.4I>T
chr22:23974200	worst	missense
chr22:23974200	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:23974200	nvar	1
chr22:23974200	var	chr22:23974200:A/G
chr22:24034244	allele_ref	T
chr22:24034244	allele_alt	C
chr22:24034244	seqdb_ref	T
chr22:24034244	snp_fw_seq3	CTG/CCG
chr22:24034244	snp_rv_seq3	CAG/CGG
chr22:24034244	func	silent,intronic
chr22:24034244	transcript	NM_153615,NR_024448
chr22:24034244	genomic	.,.
chr22:24034244	codon	.,.
chr22:24034244	protein	.,.
chr22:24034244	worst	silent
chr22:24034244	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24034244	nvar	1
chr22:24034244	var	chr22:24034244:T/C
chr22:24034288	allele_ref	A
chr22:24034288	allele_alt	G
chr22:24034288	seqdb_ref	A
chr22:24034288	snp_fw_seq3	CAG/CGG
chr22:24034288	snp_rv_seq3	CTG/CCG
chr22:24034288	func	missense,intronic
chr22:24034288	transcript	NM_153615,NR_024448
chr22:24034288	genomic	g.71A>G,.
chr22:24034288	codon	c.71CAG>CGG,.
chr22:24034288	protein	p.24Q>R,.
chr22:24034288	worst	missense
chr22:24034288	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24034288	nvar	1
chr22:24034288	var	chr22:24034288:A/G
chr22:24034299	allele_ref	G
chr22:24034299	allele_alt	A
chr22:24034299	seqdb_ref	G
chr22:24034299	snp_fw_seq3	GGA/GAA
chr22:24034299	snp_rv_seq3	TCC/TTC
chr22:24034299	func	missense,intronic
chr22:24034299	transcript	NM_153615,NR_024448
chr22:24034299	genomic	g.82G>A,.
chr22:24034299	codon	c.82GAA>AAA,.
chr22:24034299	protein	p.28E>K,.
chr22:24034299	worst	missense
chr22:24034299	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24034299	nvar	1
chr22:24034299	var	chr22:24034299:G/A
chr22:24034326	allele_ref	C
chr22:24034326	allele_alt	T
chr22:24034326	seqdb_ref	C
chr22:24034326	snp_fw_seq3	GCG/GTG
chr22:24034326	snp_rv_seq3	CGC/CAC
chr22:24034326	func	missense,intronic
chr22:24034326	transcript	NM_153615,NR_024448
chr22:24034326	genomic	g.109C>T,.
chr22:24034326	codon	c.109CGC>TGC,.
chr22:24034326	protein	p.37R>C,.
chr22:24034326	worst	missense
chr22:24034326	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24034326	nvar	1
chr22:24034326	var	chr22:24034326:C/T
chr22:24035215	allele_ref	C
chr22:24035215	allele_alt	A
chr22:24035215	seqdb_ref	C
chr22:24035215	snp_fw_seq3	ACC/AAC
chr22:24035215	snp_rv_seq3	GGT/GTT
chr22:24035215	func	intronic,intronic
chr22:24035215	transcript	NM_153615,NR_024448
chr22:24035215	genomic	.,.
chr22:24035215	codon	.,.
chr22:24035215	protein	.,.
chr22:24035215	worst	intronic
chr22:24035215	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24035215	nvar	1
chr22:24035215	var	chr22:24035215:C/A
chr22:24035907	allele_ref	A
chr22:24035907	allele_alt	G
chr22:24035907	seqdb_ref	A
chr22:24035907	snp_fw_seq3	CAG/CGG
chr22:24035907	snp_rv_seq3	CTG/CCG
chr22:24035907	func	intronic,intronic
chr22:24035907	transcript	NM_153615,NR_024448
chr22:24035907	genomic	.,.
chr22:24035907	codon	.,.
chr22:24035907	protein	.,.
chr22:24035907	worst	intronic
chr22:24035907	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24035907	nvar	1
chr22:24035907	var	chr22:24035907:A/G
chr22:24035970	allele_ref	C
chr22:24035970	allele_alt	T
chr22:24035970	seqdb_ref	C
chr22:24035970	snp_fw_seq3	CCA/CTA
chr22:24035970	snp_rv_seq3	TGG/TAG
chr22:24035970	func	missense,intronic
chr22:24035970	transcript	NM_153615,NR_024448
chr22:24035970	genomic	g.721C>T,.
chr22:24035970	codon	c.721CAC>TAC,.
chr22:24035970	protein	p.241H>Y,.
chr22:24035970	worst	missense
chr22:24035970	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24035970	nvar	1
chr22:24035970	var	chr22:24035970:C/T
chr22:24036138	allele_ref	G
chr22:24036138	allele_alt	A
chr22:24036138	seqdb_ref	G
chr22:24036138	snp_fw_seq3	GGA/GAA
chr22:24036138	snp_rv_seq3	TCC/TTC
chr22:24036138	func	missense,intronic
chr22:24036138	transcript	NM_153615,NR_024448
chr22:24036138	genomic	g.889G>A,.
chr22:24036138	codon	c.889GAG>AAG,.
chr22:24036138	protein	p.297E>K,.
chr22:24036138	worst	missense
chr22:24036138	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24036138	nvar	1
chr22:24036138	var	chr22:24036138:G/A
chr22:24036657	allele_ref	T
chr22:24036657	allele_alt	C
chr22:24036657	seqdb_ref	T
chr22:24036657	snp_fw_seq3	ATG/ACG
chr22:24036657	snp_rv_seq3	CAT/CGT
chr22:24036657	func	intronic,npcRNA
chr22:24036657	transcript	NM_153615,NR_024448
chr22:24036657	genomic	.,.
chr22:24036657	codon	.,.
chr22:24036657	protein	.,.
chr22:24036657	worst	npcRNA
chr22:24036657	class	npcRNA,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:24036657	nvar	1
chr22:24036657	var	chr22:24036657:T/C
chr22:24038847	allele_ref	T
chr22:24038847	allele_alt	C
chr22:24038847	seqdb_ref	T
chr22:24038847	snp_fw_seq3	GTC/GCC
chr22:24038847	snp_rv_seq3	GAC/GGC
chr22:24038847	func	missense,intronic
chr22:24038847	transcript	NM_153615,NR_024448
chr22:24038847	genomic	g.1133T>C,.
chr22:24038847	codon	c.1133GTC>GCC,.
chr22:24038847	protein	p.378V>A,.
chr22:24038847	worst	missense
chr22:24038847	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24038847	nvar	1
chr22:24038847	var	chr22:24038847:T/C
chr22:24086107	allele_ref	A
chr22:24086107	allele_alt	G
chr22:24086107	seqdb_ref	A
chr22:24086107	snp_fw_seq3	CAA/CGA
chr22:24086107	snp_rv_seq3	TTG/TCG
chr22:24086107	func	silent
chr22:24086107	transcript	NM_021916
chr22:24086107	genomic	.
chr22:24086107	codon	.
chr22:24086107	protein	.
chr22:24086107	worst	silent
chr22:24086107	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24086107	nvar	1
chr22:24086107	var	chr22:24086107:A/G
chr22:24086348	allele_ref	C
chr22:24086348	allele_alt	T
chr22:24086348	seqdb_ref	C
chr22:24086348	snp_fw_seq3	GCG/GTG
chr22:24086348	snp_rv_seq3	CGC/CAC
chr22:24086348	func	missense
chr22:24086348	transcript	NM_021916
chr22:24086348	genomic	g.980C>T
chr22:24086348	codon	c.980CGC>CAC
chr22:24086348	protein	p.327R>H
chr22:24086348	worst	missense
chr22:24086348	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24086348	nvar	1
chr22:24086348	var	chr22:24086348:C/T
chr22:24086454	allele_ref	T
chr22:24086454	allele_alt	G
chr22:24086454	seqdb_ref	T
chr22:24086454	snp_fw_seq3	CTG/CGG
chr22:24086454	snp_rv_seq3	CAG/CCG
chr22:24086454	func	silent
chr22:24086454	transcript	NM_021916
chr22:24086454	genomic	.
chr22:24086454	codon	.
chr22:24086454	protein	.
chr22:24086454	worst	silent
chr22:24086454	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24086454	nvar	1
chr22:24086454	var	chr22:24086454:T/G
chr22:24086905	allele_ref	C
chr22:24086905	allele_alt	T
chr22:24086905	seqdb_ref	C
chr22:24086905	snp_fw_seq3	ACG/ATG
chr22:24086905	snp_rv_seq3	CGT/CAT
chr22:24086905	func	silent
chr22:24086905	transcript	NM_021916
chr22:24086905	genomic	.
chr22:24086905	codon	.
chr22:24086905	protein	.
chr22:24086905	worst	silent
chr22:24086905	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24086905	nvar	1
chr22:24086905	var	chr22:24086905:C/T
chr22:24087319	allele_ref	A
chr22:24087319	allele_alt	C
chr22:24087319	seqdb_ref	A
chr22:24087319	snp_fw_seq3	GAA/GCA
chr22:24087319	snp_rv_seq3	TTC/TGC
chr22:24087319	func	silent
chr22:24087319	transcript	NM_021916
chr22:24087319	genomic	.
chr22:24087319	codon	.
chr22:24087319	protein	.
chr22:24087319	worst	silent
chr22:24087319	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24087319	nvar	1
chr22:24087319	var	chr22:24087319:A/C
chr22:24095296	allele_ref	C
chr22:24095296	allele_alt	T
chr22:24095296	seqdb_ref	C
chr22:24095296	snp_fw_seq3	ACG/ATG
chr22:24095296	snp_rv_seq3	CGT/CAT
chr22:24095296	func	missense
chr22:24095296	transcript	NM_013378
chr22:24095296	genomic	g.139C>T
chr22:24095296	codon	c.139GTC>ATC
chr22:24095296	protein	p.47V>I
chr22:24095296	worst	missense
chr22:24095296	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24095296	nvar	1
chr22:24095296	var	chr22:24095296:C/T
chr22:24096541	allele_ref	G
chr22:24096541	allele_alt	A
chr22:24096541	seqdb_ref	G
chr22:24096541	snp_fw_seq3	CGG/CAG
chr22:24096541	snp_rv_seq3	CCG/CTG
chr22:24096541	func	missense
chr22:24096541	transcript	NM_013378
chr22:24096541	genomic	g.10G>A
chr22:24096541	codon	c.10CGG>TGG
chr22:24096541	protein	p.4R>W
chr22:24096541	worst	missense
chr22:24096541	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24096541	nvar	1
chr22:24096541	var	chr22:24096541:G/A
chr22:24107034	allele_ref	G
chr22:24107034	allele_alt	A
chr22:24107034	seqdb_ref	G
chr22:24107034	snp_fw_seq3	CGT/CAT
chr22:24107034	snp_rv_seq3	ACG/ATG
chr22:24107034	func	missense
chr22:24107034	transcript	NM_182520
chr22:24107034	genomic	g.380G>A
chr22:24107034	codon	c.380CGT>CAT
chr22:24107034	protein	p.127R>H
chr22:24107034	worst	missense
chr22:24107034	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24107034	nvar	1
chr22:24107034	var	chr22:24107034:G/A
chr22:24108288	allele_ref	C
chr22:24108288	allele_alt	G
chr22:24108288	seqdb_ref	C
chr22:24108288	snp_fw_seq3	CCG/CGG
chr22:24108288	snp_rv_seq3	CGG/CCG
chr22:24108288	func	intronic
chr22:24108288	transcript	NM_213720
chr22:24108288	genomic	.
chr22:24108288	codon	.
chr22:24108288	protein	.
chr22:24108288	worst	intronic
chr22:24108288	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24108288	nvar	1
chr22:24108288	var	chr22:24108288:C/G
chr22:24108394	allele_ref	C
chr22:24108394	allele_alt	T
chr22:24108394	seqdb_ref	C
chr22:24108394	snp_fw_seq3	CCA/CTA
chr22:24108394	snp_rv_seq3	TGG/TAG
chr22:24108394	func	silent
chr22:24108394	transcript	NM_213720
chr22:24108394	genomic	.
chr22:24108394	codon	.
chr22:24108394	protein	.
chr22:24108394	worst	silent
chr22:24108394	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24108394	nvar	1
chr22:24108394	var	chr22:24108394:C/T
chr22:24108412	allele_ref	G
chr22:24108412	allele_alt	A
chr22:24108412	seqdb_ref	G
chr22:24108412	snp_fw_seq3	CGT/CAT
chr22:24108412	snp_rv_seq3	ACG/ATG
chr22:24108412	func	silent
chr22:24108412	transcript	NM_213720
chr22:24108412	genomic	.
chr22:24108412	codon	.
chr22:24108412	protein	.
chr22:24108412	worst	silent
chr22:24108412	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24108412	nvar	1
chr22:24108412	var	chr22:24108412:G/A
chr22:24108438	allele_ref	G
chr22:24108438	allele_alt	T
chr22:24108438	seqdb_ref	G
chr22:24108438	snp_fw_seq3	GGC/GTC
chr22:24108438	snp_rv_seq3	GCC/GAC
chr22:24108438	func	missense
chr22:24108438	transcript	NM_213720
chr22:24108438	genomic	g.286G>T
chr22:24108438	codon	c.286CCC>ACC
chr22:24108438	protein	p.96P>T
chr22:24108438	worst	missense
chr22:24108438	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24108438	nvar	1
chr22:24108438	var	chr22:24108438:G/T
chr22:24109550	allele_ref	T
chr22:24109550	allele_alt	C,A
chr22:24109550	seqdb_ref	T
chr22:24109550	func	intronic
chr22:24109550	transcript	NM_213720
chr22:24109550	genomic	.
chr22:24109550	codon	.
chr22:24109550	protein	.
chr22:24109550	worst	intronic
chr22:24109550	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24109550	nvar	1
chr22:24109550	var	chr22:24109550:T/C,A
chr22:24121378	allele_ref	C
chr22:24121378	allele_alt	T
chr22:24121378	seqdb_ref	C
chr22:24121378	snp_fw_seq3	GCC/GTC
chr22:24121378	snp_rv_seq3	GGC/GAC
chr22:24121378	func	splice,missense
chr22:24121378	annot_details	DIST=4,NMD=0,OFPTV=1,EXIN=2,ISEQ=GCCTAG,ESEQ=GACGCC,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS2+4C>T
chr22:24121378	transcript	NM_005940,NM_005940
chr22:24121378	genomic	.,g.113C>T
chr22:24121378	codon	.,c.113GCC>GTC
chr22:24121378	protein	.,p.38A>V
chr22:24121378	worst	missense
chr22:24121378	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24121378	nvar	1
chr22:24121378	var	chr22:24121378:C/T
chr22:24122499	allele_ref	G
chr22:24122499	allele_alt	A
chr22:24122499	seqdb_ref	G
chr22:24122499	snp_fw_seq3	CGG/CAG
chr22:24122499	snp_rv_seq3	CCG/CTG
chr22:24122499	func	intronic
chr22:24122499	transcript	NM_005940
chr22:24122499	genomic	.
chr22:24122499	codon	.
chr22:24122499	protein	.
chr22:24122499	worst	intronic
chr22:24122499	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24122499	nvar	1
chr22:24122499	var	chr22:24122499:G/A
chr22:24123011	allele_ref	G
chr22:24123011	allele_alt	A
chr22:24123011	seqdb_ref	G
chr22:24123011	snp_fw_seq3	AGG/AAG
chr22:24123011	snp_rv_seq3	CCT/CTT
chr22:24123011	func	intronic
chr22:24123011	transcript	NM_005940
chr22:24123011	genomic	.
chr22:24123011	codon	.
chr22:24123011	protein	.
chr22:24123011	worst	intronic
chr22:24123011	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24123011	nvar	1
chr22:24123011	var	chr22:24123011:G/A
chr22:24124471	allele_ref	C
chr22:24124471	allele_alt	A
chr22:24124471	seqdb_ref	c
chr22:24124471	snp_fw_seq3	ccg/cAg
chr22:24124471	snp_rv_seq3	cgg/cTg
chr22:24124471	func	silent
chr22:24124471	transcript	NM_005940
chr22:24124471	genomic	.
chr22:24124471	codon	.
chr22:24124471	protein	.
chr22:24124471	worst	silent
chr22:24124471	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24124471	nvar	1
chr22:24124471	var	chr22:24124471:C/A
chr22:24125565	allele_ref	G
chr22:24125565	allele_alt	A
chr22:24125565	seqdb_ref	G
chr22:24125565	snp_fw_seq3	CGC/CAC
chr22:24125565	snp_rv_seq3	GCG/GTG
chr22:24125565	func	intronic
chr22:24125565	transcript	NM_005940
chr22:24125565	genomic	.
chr22:24125565	codon	.
chr22:24125565	protein	.
chr22:24125565	worst	intronic
chr22:24125565	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24125565	nvar	1
chr22:24125565	var	chr22:24125565:G/A
chr22:24143206	allele_ref	A
chr22:24143206	allele_alt	G
chr22:24143206	seqdb_ref	A
chr22:24143206	snp_fw_seq3	CAT/CGT
chr22:24143206	snp_rv_seq3	ATG/ACG
chr22:24143206	func	silent,silent
chr22:24143206	transcript	NM_001007468,NM_003073
chr22:24143206	genomic	.,.
chr22:24143206	codon	.,.
chr22:24143206	protein	.,.
chr22:24143206	worst	silent
chr22:24143206	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24143206	nvar	1
chr22:24143206	var	chr22:24143206:A/G
chr22:24167513	allele_ref	G
chr22:24167513	allele_alt	A
chr22:24167513	seqdb_ref	G
chr22:24167513	snp_fw_seq3	CGG/CAG
chr22:24167513	snp_rv_seq3	CCG/CTG
chr22:24167513	func	silent,silent
chr22:24167513	transcript	NM_001007468,NM_003073
chr22:24167513	genomic	.,.
chr22:24167513	codon	.,.
chr22:24167513	protein	.,.
chr22:24167513	worst	silent
chr22:24167513	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24167513	nvar	1
chr22:24167513	var	chr22:24167513:G/A
chr22:24176287	allele_ref	G
chr22:24176287	allele_alt	A
chr22:24176287	seqdb_ref	G
chr22:24176287	snp_fw_seq3	GGA/GAA
chr22:24176287	snp_rv_seq3	TCC/TTC
chr22:24176287	func	intronic,intronic
chr22:24176287	transcript	NM_001007468,NM_003073
chr22:24176287	genomic	.,.
chr22:24176287	codon	.,.
chr22:24176287	protein	.,.
chr22:24176287	worst	intronic
chr22:24176287	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24176287	nvar	1
chr22:24176287	var	chr22:24176287:G/A
chr22:24177094	allele_ref	C
chr22:24177094	allele_alt	T
chr22:24177094	seqdb_ref	C
chr22:24177094	snp_fw_seq3	GCT/GTT
chr22:24177094	snp_rv_seq3	AGC/AAC
chr22:24177094	func	3-UTR,missense,3-UTR
chr22:24177094	transcript	NM_001002862,NM_001135751,NM_198440
chr22:24177094	genomic	.,g.640C>T,.
chr22:24177094	codon	.,c.640GCT>ACT,.
chr22:24177094	protein	.,p.214A>T,.
chr22:24177094	worst	missense
chr22:24177094	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:24177094	nvar	1
chr22:24177094	var	chr22:24177094:C/T
chr22:24179132	allele_ref	G
chr22:24179132	allele_alt	A
chr22:24179132	seqdb_ref	G
chr22:24179132	snp_fw_seq3	GGC/GAC
chr22:24179132	snp_rv_seq3	GCC/GTC
chr22:24179132	func	missense,intronic,3-UTR
chr22:24179132	transcript	NM_001002862,NM_001135751,NM_198440
chr22:24179132	genomic	g.632G>A,.,.
chr22:24179132	codon	c.632GCC>GTC,.,.
chr22:24179132	protein	p.211A>V,.,.
chr22:24179132	worst	missense
chr22:24179132	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:24179132	nvar	1
chr22:24179132	var	chr22:24179132:G/A
chr22:24179922	allele_ref	G
chr22:24179922	allele_alt	C
chr22:24179922	seqdb_ref	G
chr22:24179922	snp_fw_seq3	GGA/GCA
chr22:24179922	snp_rv_seq3	TCC/TGC
chr22:24179922	func	missense,missense,missense
chr22:24179922	transcript	NM_001002862,NM_001135751,NM_198440
chr22:24179922	genomic	g.447G>C,g.447G>C,g.447G>C
chr22:24179922	codon	c.447TTC>TTG,c.447TTC>TTG,c.447TTC>TTG
chr22:24179922	protein	p.149F>L,p.149F>L,p.149F>L
chr22:24179922	worst	missense
chr22:24179922	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24179922	nvar	1
chr22:24179922	var	chr22:24179922:G/C
chr22:24180049	allele_ref	A
chr22:24180049	allele_alt	T
chr22:24180049	seqdb_ref	A
chr22:24180049	snp_fw_seq3	CAG/CTG
chr22:24180049	snp_rv_seq3	CTG/CAG
chr22:24180049	func	intronic,intronic,intronic
chr22:24180049	transcript	NM_001002862,NM_001135751,NM_198440
chr22:24180049	genomic	.,.,.
chr22:24180049	codon	.,.,.
chr22:24180049	protein	.,.,.
chr22:24180049	worst	intronic
chr22:24180049	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24180049	nvar	1
chr22:24180049	var	chr22:24180049:A/T
chr22:24180065	allele_ref	G
chr22:24180065	allele_alt	A
chr22:24180065	seqdb_ref	G
chr22:24180065	snp_fw_seq3	CGG/CAG
chr22:24180065	snp_rv_seq3	CCG/CTG
chr22:24180065	func	intronic,intronic,intronic
chr22:24180065	transcript	NM_001002862,NM_001135751,NM_198440
chr22:24180065	genomic	.,.,.
chr22:24180065	codon	.,.,.
chr22:24180065	protein	.,.,.
chr22:24180065	worst	intronic
chr22:24180065	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24180065	nvar	1
chr22:24180065	var	chr22:24180065:G/A
chr22:24180746	allele_ref	G
chr22:24180746	allele_alt	A
chr22:24180746	seqdb_ref	G
chr22:24180746	snp_fw_seq3	GGA/GAA
chr22:24180746	snp_rv_seq3	TCC/TTC
chr22:24180746	func	intronic,splice,intronic,splice,intronic,splice
chr22:24180746	annot_details	DIST=5,NMD=0,OFPTV=1,EXIN=3,ISEQ=CCTATG,ESEQ=TGCTTC,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS3+5C>T,DIST=5,NMD=0,OFPTV=1,EXIN=3,ISEQ=CCTATG,ESEQ=TGCTTC,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS3+5C>T,DIST=5,NMD=0,OFPTV=0,EXIN=3,ISEQ=CCTATG,ESEQ=TGCTTC,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS3+5C>T
chr22:24180746	transcript	NM_001002862,NM_001002862,NM_001135751,NM_001135751,NM_198440,NM_198440
chr22:24180746	genomic	.,.,.,.,.,.
chr22:24180746	codon	.,.,.,.,.,.
chr22:24180746	protein	.,.,.,.,.,.
chr22:24180746	worst	splice
chr22:24180746	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=3,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24180746	nvar	1
chr22:24180746	var	chr22:24180746:G/A
chr22:24199110	allele_ref	C
chr22:24199110	allele_alt	A
chr22:24199110	seqdb_ref	C
chr22:24199110	snp_fw_seq3	TCT/TAT
chr22:24199110	snp_rv_seq3	AGA/ATA
chr22:24199110	func	5-UTR,5-UTR
chr22:24199110	transcript	NM_001024938,NM_030807
chr22:24199110	genomic	.,.
chr22:24199110	codon	.,.
chr22:24199110	protein	.,.
chr22:24199110	worst	UTR5
chr22:24199110	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=2,UTR3=0,npcRNA=0
chr22:24199110	nvar	1
chr22:24199110	var	chr22:24199110:C/A
chr22:24199704	allele_ref	C
chr22:24199704	allele_alt	T
chr22:24199704	seqdb_ref	C
chr22:24199704	snp_fw_seq3	ACG/ATG
chr22:24199704	snp_rv_seq3	CGT/CAT
chr22:24199704	func	intronic,missense
chr22:24199704	transcript	NM_001024938,NM_030807
chr22:24199704	genomic	.,g.28C>T
chr22:24199704	codon	.,c.28CGG>TGG
chr22:24199704	protein	.,p.10R>W
chr22:24199704	worst	missense
chr22:24199704	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24199704	nvar	1
chr22:24199704	var	chr22:24199704:C/T
chr22:24204310	allele_ref	T
chr22:24204310	allele_alt	A
chr22:24204310	seqdb_ref	T
chr22:24204310	snp_fw_seq3	CTC/CAC
chr22:24204310	snp_rv_seq3	GAG/GTG
chr22:24204310	func	missense,missense,missense
chr22:24204310	transcript	NM_001024938,NM_001024939,NM_030807
chr22:24204310	genomic	g.41T>A,g.50T>A,g.62T>A
chr22:24204310	codon	c.41CTC>CAC,c.50CTC>CAC,c.62CTC>CAC
chr22:24204310	protein	p.14L>H,p.17L>H,p.21L>H
chr22:24204310	worst	missense
chr22:24204310	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24204310	nvar	1
chr22:24204310	var	chr22:24204310:T/A
chr22:24204438	allele_ref	G
chr22:24204438	allele_alt	T
chr22:24204438	seqdb_ref	G
chr22:24204438	snp_fw_seq3	GGC/GTC
chr22:24204438	snp_rv_seq3	GCC/GAC
chr22:24204438	func	intronic,intronic,intronic
chr22:24204438	transcript	NM_001024938,NM_001024939,NM_030807
chr22:24204438	genomic	.,.,.
chr22:24204438	codon	.,.,.
chr22:24204438	protein	.,.,.
chr22:24204438	worst	intronic
chr22:24204438	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24204438	nvar	1
chr22:24204438	var	chr22:24204438:G/T
chr22:24217275	allele_ref	C
chr22:24217275	allele_alt	T
chr22:24217275	seqdb_ref	C
chr22:24217275	snp_fw_seq3	TCT/TTT
chr22:24217275	snp_rv_seq3	AGA/AAA
chr22:24217275	func	intronic,intronic,intronic
chr22:24217275	transcript	NM_001024938,NM_001024939,NM_030807
chr22:24217275	genomic	.,.,.
chr22:24217275	codon	.,.,.
chr22:24217275	protein	.,.,.
chr22:24217275	worst	intronic
chr22:24217275	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24217275	nvar	1
chr22:24217275	var	chr22:24217275:C/T
chr22:24217449	allele_ref	A
chr22:24217449	allele_alt	G
chr22:24217449	seqdb_ref	A
chr22:24217449	snp_fw_seq3	CAT/CGT
chr22:24217449	snp_rv_seq3	ATG/ACG
chr22:24217449	func	intronic,intronic,intronic
chr22:24217449	transcript	NM_001024938,NM_001024939,NM_030807
chr22:24217449	genomic	.,.,.
chr22:24217449	codon	.,.,.
chr22:24217449	protein	.,.,.
chr22:24217449	worst	intronic
chr22:24217449	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24217449	nvar	1
chr22:24217449	var	chr22:24217449:A/G
chr22:24219200	allele_ref	T
chr22:24219200	allele_alt	C
chr22:24219200	seqdb_ref	T
chr22:24219200	snp_fw_seq3	CTG/CCG
chr22:24219200	snp_rv_seq3	CAG/CGG
chr22:24219200	func	intronic,intronic,intronic
chr22:24219200	transcript	NM_001024938,NM_001024939,NM_030807
chr22:24219200	genomic	.,.,.
chr22:24219200	codon	.,.,.
chr22:24219200	protein	.,.,.
chr22:24219200	worst	intronic
chr22:24219200	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24219200	nvar	1
chr22:24219200	var	chr22:24219200:T/C
chr22:24224655	allele_ref	G
chr22:24224655	allele_alt	A
chr22:24224655	seqdb_ref	G
chr22:24224655	snp_fw_seq3	CGG/CAG
chr22:24224655	snp_rv_seq3	CCG/CTG
chr22:24224655	func	missense,missense,missense
chr22:24224655	transcript	NM_001024938,NM_001024939,NM_030807
chr22:24224655	genomic	g.695G>A,g.704G>A,g.716G>A
chr22:24224655	codon	c.695CGG>CAG,c.704CGG>CAG,c.716CGG>CAG
chr22:24224655	protein	p.232R>Q,p.235R>Q,p.239R>Q
chr22:24224655	worst	missense
chr22:24224655	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24224655	nvar	1
chr22:24224655	var	chr22:24224655:G/A
chr22:24224659	allele_ref	C
chr22:24224659	allele_alt	A
chr22:24224659	seqdb_ref	C
chr22:24224659	snp_fw_seq3	TCC/TAC
chr22:24224659	snp_rv_seq3	GGA/GTA
chr22:24224659	func	silent,silent,silent
chr22:24224659	transcript	NM_001024938,NM_001024939,NM_030807
chr22:24224659	genomic	.,.,.
chr22:24224659	codon	.,.,.
chr22:24224659	protein	.,.,.
chr22:24224659	worst	silent
chr22:24224659	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24224659	nvar	1
chr22:24224659	var	chr22:24224659:C/A
chr22:24224709	allele_ref	G
chr22:24224709	allele_alt	A
chr22:24224709	seqdb_ref	G
chr22:24224709	snp_fw_seq3	CGC/CAC
chr22:24224709	snp_rv_seq3	GCG/GTG
chr22:24224709	func	missense,missense,missense
chr22:24224709	transcript	NM_001024938,NM_001024939,NM_030807
chr22:24224709	genomic	g.749G>A,g.758G>A,g.770G>A
chr22:24224709	codon	c.749CGC>CAC,c.758CGC>CAC,c.770CGC>CAC
chr22:24224709	protein	p.250R>H,p.253R>H,p.257R>H
chr22:24224709	worst	missense
chr22:24224709	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24224709	nvar	1
chr22:24224709	var	chr22:24224709:G/A
chr22:24224974	allele_ref	G
chr22:24224974	allele_alt	A
chr22:24224974	seqdb_ref	G
chr22:24224974	snp_fw_seq3	CGG/CAG
chr22:24224974	snp_rv_seq3	CCG/CTG
chr22:24224974	func	missense,missense,missense
chr22:24224974	transcript	NM_001024938,NM_001024939,NM_030807
chr22:24224974	genomic	g.902G>A,g.911G>A,g.923G>A
chr22:24224974	codon	c.902CGG>CAG,c.911CGG>CAG,c.923CGG>CAG
chr22:24224974	protein	p.301R>Q,p.304R>Q,p.308R>Q
chr22:24224974	worst	missense
chr22:24224974	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24224974	nvar	1
chr22:24224974	var	chr22:24224974:G/A
chr22:24226131	allele_ref	G
chr22:24226131	allele_alt	A
chr22:24226131	seqdb_ref	G
chr22:24226131	snp_fw_seq3	CGG/CAG
chr22:24226131	snp_rv_seq3	CCG/CTG
chr22:24226131	func	intronic,splice,intronic,splice,intronic,splice
chr22:24226131	annot_details	DIST=-5,NMD=0,OFPTV=1,EXIN=10,ISEQ=CGGCAG,ESEQ=AGCTCC,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS10+-5G>A,DIST=-5,NMD=0,OFPTV=1,EXIN=10,ISEQ=CGGCAG,ESEQ=AGCTCC,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS10+-5G>A,DIST=-5,NMD=0,OFPTV=1,EXIN=11,ISEQ=CGGCAG,ESEQ=AGCTCC,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS11+-5G>A
chr22:24226131	transcript	NM_001024938,NM_001024938,NM_001024939,NM_001024939,NM_030807,NM_030807
chr22:24226131	genomic	.,.,.,.,.,.
chr22:24226131	codon	.,.,.,.,.,.
chr22:24226131	protein	.,.,.,.,.,.
chr22:24226131	worst	splice
chr22:24226131	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=3,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24226131	nvar	1
chr22:24226131	var	chr22:24226131:G/A
chr22:24226242	allele_ref	A
chr22:24226242	allele_alt	G
chr22:24226242	seqdb_ref	A
chr22:24226242	snp_fw_seq3	CAT/CGT
chr22:24226242	snp_rv_seq3	ATG/ACG
chr22:24226242	func	intronic,intronic,intronic
chr22:24226242	transcript	NM_001024938,NM_001024939,NM_030807
chr22:24226242	genomic	.,.,.
chr22:24226242	codon	.,.,.
chr22:24226242	protein	.,.,.
chr22:24226242	worst	intronic
chr22:24226242	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24226242	nvar	1
chr22:24226242	var	chr22:24226242:A/G
chr22:24226449	allele_ref	A
chr22:24226449	allele_alt	G
chr22:24226449	seqdb_ref	A
chr22:24226449	snp_fw_seq3	AAC/AGC
chr22:24226449	snp_rv_seq3	GTT/GCT
chr22:24226449	func	intronic,intronic,intronic
chr22:24226449	transcript	NM_001024938,NM_001024939,NM_030807
chr22:24226449	genomic	.,.,.
chr22:24226449	codon	.,.,.
chr22:24226449	protein	.,.,.
chr22:24226449	worst	intronic
chr22:24226449	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24226449	nvar	1
chr22:24226449	var	chr22:24226449:A/G
chr22:24226584	allele_ref	A
chr22:24226584	allele_alt	T
chr22:24226584	seqdb_ref	A
chr22:24226584	snp_fw_seq3	CAT/CTT
chr22:24226584	snp_rv_seq3	ATG/AAG
chr22:24226584	func	missense,missense,missense
chr22:24226584	transcript	NM_001024938,NM_001024939,NM_030807
chr22:24226584	genomic	g.1258A>T,g.1267A>T,g.1279A>T
chr22:24226584	codon	c.1258ATC>TTC,c.1267ATC>TTC,c.1279ATC>TTC
chr22:24226584	protein	p.420I>F,p.423I>F,p.427I>F
chr22:24226584	worst	missense
chr22:24226584	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24226584	nvar	1
chr22:24226584	var	chr22:24226584:A/T
chr22:24226633	allele_ref	C
chr22:24226633	allele_alt	T
chr22:24226633	seqdb_ref	C
chr22:24226633	snp_fw_seq3	CCG/CTG
chr22:24226633	snp_rv_seq3	CGG/CAG
chr22:24226633	func	intronic,intronic,intronic
chr22:24226633	transcript	NM_001024938,NM_001024939,NM_030807
chr22:24226633	genomic	.,.,.
chr22:24226633	codon	.,.,.
chr22:24226633	protein	.,.,.
chr22:24226633	worst	intronic
chr22:24226633	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24226633	nvar	1
chr22:24226633	var	chr22:24226633:C/T
chr22:24226801	allele_ref	A
chr22:24226801	allele_alt	C
chr22:24226801	seqdb_ref	A
chr22:24226801	snp_fw_seq3	GAC/GCC
chr22:24226801	snp_rv_seq3	GTC/GGC
chr22:24226801	func	intronic,intronic,intronic
chr22:24226801	transcript	NM_001024938,NM_001024939,NM_030807
chr22:24226801	genomic	.,.,.
chr22:24226801	codon	.,.,.
chr22:24226801	protein	.,.,.
chr22:24226801	worst	intronic
chr22:24226801	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24226801	nvar	1
chr22:24226801	var	chr22:24226801:A/C
chr22:24226890	allele_ref	G
chr22:24226890	allele_alt	A
chr22:24226890	seqdb_ref	G
chr22:24226890	snp_fw_seq3	GGC/GAC
chr22:24226890	snp_rv_seq3	GCC/GTC
chr22:24226890	func	missense,missense,missense
chr22:24226890	transcript	NM_001024938,NM_001024939,NM_030807
chr22:24226890	genomic	g.1345G>A,g.1354G>A,g.1366G>A
chr22:24226890	codon	c.1345GCC>ACC,c.1354GCC>ACC,c.1366GCC>ACC
chr22:24226890	protein	p.449A>T,p.452A>T,p.456A>T
chr22:24226890	worst	missense
chr22:24226890	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24226890	nvar	1
chr22:24226890	var	chr22:24226890:G/A
chr22:24226950	allele_ref	A
chr22:24226950	allele_alt	G
chr22:24226950	seqdb_ref	A
chr22:24226950	snp_fw_seq3	CAA/CGA
chr22:24226950	snp_rv_seq3	TTG/TCG
chr22:24226950	func	missense,missense,missense
chr22:24226950	transcript	NM_001024938,NM_001024939,NM_030807
chr22:24226950	genomic	g.1405A>G,g.1414A>G,g.1426A>G
chr22:24226950	codon	c.1405AAG>GAG,c.1414AAG>GAG,c.1426AAG>GAG
chr22:24226950	protein	p.469K>E,p.472K>E,p.476K>E
chr22:24226950	worst	missense
chr22:24226950	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24226950	nvar	1
chr22:24226950	var	chr22:24226950:A/G
chr22:24236819	allele_ref	T
chr22:24236819	allele_alt	C
chr22:24236819	seqdb_ref	T
chr22:24236819	snp_fw_seq3	TTC/TCC
chr22:24236819	snp_rv_seq3	GAA/GGA
chr22:24236819	func	intronic,npcRNA
chr22:24236819	transcript	NM_002415,NR_038911
chr22:24236819	genomic	.,.
chr22:24236819	codon	.,.
chr22:24236819	protein	.,.
chr22:24236819	worst	npcRNA
chr22:24236819	class	npcRNA,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:24236819	nvar	1
chr22:24236819	var	chr22:24236819:T/C
chr22:24237108	allele_ref	G
chr22:24237108	allele_alt	A
chr22:24237108	seqdb_ref	G
chr22:24237108	snp_fw_seq3	AGC/AAC
chr22:24237108	snp_rv_seq3	GCT/GTT
chr22:24237108	func	silent,npcRNA
chr22:24237108	transcript	NM_002415,NR_038911
chr22:24237108	genomic	.,.
chr22:24237108	codon	.,.
chr22:24237108	protein	.,.
chr22:24237108	worst	silent
chr22:24237108	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:24237108	nvar	1
chr22:24237108	var	chr22:24237108:G/A
chr22:24237189	allele_ref	C
chr22:24237189	allele_alt	T
chr22:24237189	seqdb_ref	C
chr22:24237189	snp_fw_seq3	ACT/ATT
chr22:24237189	snp_rv_seq3	AGT/AAT
chr22:24237189	func	intronic,npcRNA
chr22:24237189	transcript	NM_002415,NR_038911
chr22:24237189	genomic	.,.
chr22:24237189	codon	.,.
chr22:24237189	protein	.,.
chr22:24237189	worst	npcRNA
chr22:24237189	class	npcRNA,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:24237189	nvar	1
chr22:24237189	var	chr22:24237189:C/T
chr22:24237221	allele_ref	C
chr22:24237221	allele_alt	G
chr22:24237221	seqdb_ref	C
chr22:24237221	snp_fw_seq3	CCC/CGC
chr22:24237221	snp_rv_seq3	GGG/GCG
chr22:24237221	func	intronic,npcRNA
chr22:24237221	transcript	NM_002415,NR_038911
chr22:24237221	genomic	.,.
chr22:24237221	codon	.,.
chr22:24237221	protein	.,.
chr22:24237221	worst	npcRNA
chr22:24237221	class	npcRNA,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:24237221	nvar	1
chr22:24237221	var	chr22:24237221:C/G
chr22:24313449	allele_ref	G
chr22:24313449	allele_alt	C
chr22:24313449	seqdb_ref	G
chr22:24313449	snp_fw_seq3	TGA/TCA
chr22:24313449	snp_rv_seq3	TCA/TGA
chr22:24313449	func	intronic
chr22:24313449	transcript	NM_001084393
chr22:24313449	genomic	.
chr22:24313449	codon	.
chr22:24313449	protein	.
chr22:24313449	worst	intronic
chr22:24313449	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24313449	nvar	1
chr22:24313449	var	chr22:24313449:G/C
chr22:24313483	allele_ref	C
chr22:24313483	allele_alt	T
chr22:24313483	seqdb_ref	C
chr22:24313483	snp_fw_seq3	ACG/ATG
chr22:24313483	snp_rv_seq3	CGT/CAT
chr22:24313483	func	missense
chr22:24313483	transcript	NM_001084393
chr22:24313483	genomic	g.293C>T
chr22:24313483	codon	c.293ACG>ATG
chr22:24313483	protein	p.98T>M
chr22:24313483	worst	missense
chr22:24313483	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24313483	nvar	1
chr22:24313483	var	chr22:24313483:C/T
chr22:24376845	allele_ref	C
chr22:24376845	allele_alt	T
chr22:24376845	seqdb_ref	C
chr22:24376845	snp_fw_seq3	ACG/ATG
chr22:24376845	snp_rv_seq3	CGT/CAT
chr22:24376845	func	missense
chr22:24376845	transcript	NM_000853
chr22:24376845	genomic	g.505C>T
chr22:24376845	codon	c.505GTA>ATA
chr22:24376845	protein	p.169V>I
chr22:24376845	worst	missense
chr22:24376845	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24376845	nvar	1
chr22:24376845	var	chr22:24376845:C/T
chr22:24377034	allele_ref	A
chr22:24377034	allele_alt	G
chr22:24377034	seqdb_ref	A
chr22:24377034	snp_fw_seq3	GAG/GGG
chr22:24377034	snp_rv_seq3	CTC/CCC
chr22:24377034	func	intronic
chr22:24377034	transcript	NM_000853
chr22:24377034	genomic	.
chr22:24377034	codon	.
chr22:24377034	protein	.
chr22:24377034	worst	intronic
chr22:24377034	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24377034	nvar	1
chr22:24377034	var	chr22:24377034:A/G
chr22:24379524	allele_ref	G
chr22:24379524	allele_alt	A
chr22:24379524	seqdb_ref	G
chr22:24379524	snp_fw_seq3	GGG/GAG
chr22:24379524	snp_rv_seq3	CCC/CTC
chr22:24379524	func	intronic
chr22:24379524	transcript	NM_000853
chr22:24379524	genomic	.
chr22:24379524	codon	.
chr22:24379524	protein	.
chr22:24379524	worst	intronic
chr22:24379524	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24379524	nvar	1
chr22:24379524	var	chr22:24379524:G/A
chr22:24381811	allele_ref	G
chr22:24381811	allele_alt	A
chr22:24381811	seqdb_ref	G
chr22:24381811	snp_fw_seq3	GGT/GAT
chr22:24381811	snp_rv_seq3	ACC/ATC
chr22:24381811	func	intronic
chr22:24381811	transcript	NM_000853
chr22:24381811	genomic	.
chr22:24381811	codon	.
chr22:24381811	protein	.
chr22:24381811	worst	intronic
chr22:24381811	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24381811	nvar	1
chr22:24381811	var	chr22:24381811:G/A
chr22:24447272	allele_ref	C
chr22:24447272	allele_alt	T
chr22:24447272	seqdb_ref	C
chr22:24447272	snp_fw_seq3	TCT/TTT
chr22:24447272	snp_rv_seq3	AGA/AAA
chr22:24447272	func	intronic,intronic,intronic
chr22:24447272	transcript	NM_001199281,NM_001201429,NM_012295
chr22:24447272	genomic	.,.,.
chr22:24447272	codon	.,.,.
chr22:24447272	protein	.,.,.
chr22:24447272	worst	intronic
chr22:24447272	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24447272	nvar	1
chr22:24447272	var	chr22:24447272:C/T
chr22:24447303	allele_ref	G
chr22:24447303	allele_alt	A
chr22:24447303	seqdb_ref	G
chr22:24447303	snp_fw_seq3	CGA/CAA
chr22:24447303	snp_rv_seq3	TCG/TTG
chr22:24447303	func	missense,intronic,missense
chr22:24447303	transcript	NM_001199281,NM_001201429,NM_012295
chr22:24447303	genomic	g.673G>A,.,g.673G>A
chr22:24447303	codon	c.673GAT>AAT,.,c.673GAT>AAT
chr22:24447303	protein	p.225D>N,.,p.225D>N
chr22:24447303	worst	missense
chr22:24447303	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24447303	nvar	1
chr22:24447303	var	chr22:24447303:G/A
chr22:24455841	allele_ref	G
chr22:24455841	allele_alt	A
chr22:24455841	seqdb_ref	G
chr22:24455841	snp_fw_seq3	AGT/AAT
chr22:24455841	snp_rv_seq3	ACT/ATT
chr22:24455841	func	intronic,intronic,intronic
chr22:24455841	transcript	NM_001199281,NM_001201429,NM_012295
chr22:24455841	genomic	.,.,.
chr22:24455841	codon	.,.,.
chr22:24455841	protein	.,.,.
chr22:24455841	worst	intronic
chr22:24455841	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24455841	nvar	1
chr22:24455841	var	chr22:24455841:G/A
chr22:24456518	allele_ref	G
chr22:24456518	allele_alt	A
chr22:24456518	seqdb_ref	G
chr22:24456518	snp_fw_seq3	CGT/CAT
chr22:24456518	snp_rv_seq3	ACG/ATG
chr22:24456518	func	missense,missense,missense
chr22:24456518	transcript	NM_001199281,NM_001201429,NM_012295
chr22:24456518	genomic	g.1531G>A,g.1381G>A,g.1531G>A
chr22:24456518	codon	c.1531GTG>ATG,c.1381GTG>ATG,c.1531GTG>ATG
chr22:24456518	protein	p.511V>M,p.461V>M,p.511V>M
chr22:24456518	worst	missense
chr22:24456518	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24456518	nvar	1
chr22:24456518	var	chr22:24456518:G/A
chr22:24459401	allele_ref	C
chr22:24459401	allele_alt	T
chr22:24459401	seqdb_ref	C
chr22:24459401	snp_fw_seq3	TCG/TTG
chr22:24459401	snp_rv_seq3	CGA/CAA
chr22:24459401	func	intronic,intronic,intronic
chr22:24459401	transcript	NM_001199281,NM_001201429,NM_012295
chr22:24459401	genomic	.,.,.
chr22:24459401	codon	.,.,.
chr22:24459401	protein	.,.,.
chr22:24459401	worst	intronic
chr22:24459401	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24459401	nvar	1
chr22:24459401	var	chr22:24459401:C/T
chr22:24459438	allele_ref	T
chr22:24459438	allele_alt	C
chr22:24459438	seqdb_ref	T
chr22:24459438	snp_fw_seq3	GTC/GCC
chr22:24459438	snp_rv_seq3	GAC/GGC
chr22:24459438	func	silent,silent,silent
chr22:24459438	transcript	NM_001199281,NM_001201429,NM_012295
chr22:24459438	genomic	.,.,.
chr22:24459438	codon	.,.,.
chr22:24459438	protein	.,.,.
chr22:24459438	worst	silent
chr22:24459438	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24459438	nvar	1
chr22:24459438	var	chr22:24459438:T/C
chr22:24460593	allele_ref	A
chr22:24460593	allele_alt	C
chr22:24460593	seqdb_ref	A
chr22:24460593	snp_fw_seq3	GAG/GCG
chr22:24460593	snp_rv_seq3	CTC/CGC
chr22:24460593	func	missense,missense,missense
chr22:24460593	transcript	NM_001199281,NM_001201429,NM_012295
chr22:24460593	genomic	g.1980A>C,g.1830A>C,g.1980A>C
chr22:24460593	codon	c.1980AGA>AGC,c.1830AGA>AGC,c.1980AGA>AGC
chr22:24460593	protein	p.660R>S,p.610R>S,p.660R>S
chr22:24460593	worst	missense
chr22:24460593	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24460593	nvar	1
chr22:24460593	var	chr22:24460593:A/C
chr22:24463123	allele_ref	T
chr22:24463123	allele_alt	G
chr22:24463123	seqdb_ref	T
chr22:24463123	snp_fw_seq3	TTC/TGC
chr22:24463123	snp_rv_seq3	GAA/GCA
chr22:24463123	func	silent,silent,silent
chr22:24463123	transcript	NM_001199281,NM_001201429,NM_012295
chr22:24463123	genomic	.,.,.
chr22:24463123	codon	.,.,.
chr22:24463123	protein	.,.,.
chr22:24463123	worst	silent
chr22:24463123	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24463123	nvar	1
chr22:24463123	var	chr22:24463123:T/G
chr22:24468448	allele_ref	C
chr22:24468448	allele_alt	T
chr22:24468448	seqdb_ref	C
chr22:24468448	snp_fw_seq3	CCC/CTC
chr22:24468448	snp_rv_seq3	GGG/GAG
chr22:24468448	func	missense,missense,missense
chr22:24468448	transcript	NM_001199281,NM_001201429,NM_012295
chr22:24468448	genomic	g.2620C>T,g.2470C>T,g.2620C>T
chr22:24468448	codon	c.2620CCA>TCA,c.2470CCA>TCA,c.2620CCA>TCA
chr22:24468448	protein	p.874P>S,p.824P>S,p.874P>S
chr22:24468448	worst	missense
chr22:24468448	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24468448	nvar	1
chr22:24468448	var	chr22:24468448:C/T
chr22:24468452	allele_ref	C
chr22:24468452	allele_alt	T
chr22:24468452	seqdb_ref	C
chr22:24468452	snp_fw_seq3	GCG/GTG
chr22:24468452	snp_rv_seq3	CGC/CAC
chr22:24468452	func	missense,missense,missense
chr22:24468452	transcript	NM_001199281,NM_001201429,NM_012295
chr22:24468452	genomic	g.2624C>T,g.2474C>T,g.2624C>T
chr22:24468452	codon	c.2624GCG>GTG,c.2474GCG>GTG,c.2624GCG>GTG
chr22:24468452	protein	p.875A>V,p.825A>V,p.875A>V
chr22:24468452	worst	missense
chr22:24468452	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24468452	nvar	1
chr22:24468452	var	chr22:24468452:C/T
chr22:24472173	allele_ref	C
chr22:24472173	allele_alt	T
chr22:24472173	seqdb_ref	C
chr22:24472173	snp_fw_seq3	ACG/ATG
chr22:24472173	snp_rv_seq3	CGT/CAT
chr22:24472173	func	silent,silent,silent
chr22:24472173	transcript	NM_001199281,NM_001201429,NM_012295
chr22:24472173	genomic	.,.,.
chr22:24472173	codon	.,.,.
chr22:24472173	protein	.,.,.
chr22:24472173	worst	silent
chr22:24472173	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24472173	nvar	1
chr22:24472173	var	chr22:24472173:C/T
chr22:24472270	allele_ref	A
chr22:24472270	allele_alt	G
chr22:24472270	seqdb_ref	A
chr22:24472270	snp_fw_seq3	CAG/CGG
chr22:24472270	snp_rv_seq3	CTG/CCG
chr22:24472270	func	intronic,intronic,intronic
chr22:24472270	transcript	NM_001199281,NM_001201429,NM_012295
chr22:24472270	genomic	.,.,.
chr22:24472270	codon	.,.,.
chr22:24472270	protein	.,.,.
chr22:24472270	worst	intronic
chr22:24472270	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24472270	nvar	1
chr22:24472270	var	chr22:24472270:A/G
chr22:24479193	allele_ref	C
chr22:24479193	allele_alt	G
chr22:24479193	seqdb_ref	C
chr22:24479193	snp_fw_seq3	CCA/CGA
chr22:24479193	snp_rv_seq3	TGG/TCG
chr22:24479193	func	missense,missense,missense
chr22:24479193	transcript	NM_001199281,NM_001201429,NM_012295
chr22:24479193	genomic	g.2761C>G,g.2611C>G,g.2761C>G
chr22:24479193	codon	c.2761CAG>GAG,c.2611CAG>GAG,c.2761CAG>GAG
chr22:24479193	protein	p.921Q>E,p.871Q>E,p.921Q>E
chr22:24479193	worst	missense
chr22:24479193	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24479193	nvar	1
chr22:24479193	var	chr22:24479193:C/G
chr22:24480503	allele_ref	G
chr22:24480503	allele_alt	A
chr22:24480503	seqdb_ref	G
chr22:24480503	snp_fw_seq3	TGC/TAC
chr22:24480503	snp_rv_seq3	GCA/GTA
chr22:24480503	func	intronic,intronic,intronic
chr22:24480503	transcript	NM_001199281,NM_001201429,NM_012295
chr22:24480503	genomic	.,.,.
chr22:24480503	codon	.,.,.
chr22:24480503	protein	.,.,.
chr22:24480503	worst	intronic
chr22:24480503	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24480503	nvar	1
chr22:24480503	var	chr22:24480503:G/A
chr22:24483609	allele_ref	C
chr22:24483609	allele_alt	T
chr22:24483609	seqdb_ref	C
chr22:24483609	snp_fw_seq3	TCG/TTG
chr22:24483609	snp_rv_seq3	CGA/CAA
chr22:24483609	func	silent,silent,silent
chr22:24483609	transcript	NM_001199281,NM_001201429,NM_012295
chr22:24483609	genomic	.,.,.
chr22:24483609	codon	.,.,.
chr22:24483609	protein	.,.,.
chr22:24483609	worst	silent
chr22:24483609	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24483609	nvar	1
chr22:24483609	var	chr22:24483609:C/T
chr22:24483621	allele_ref	A
chr22:24483621	allele_alt	G
chr22:24483621	seqdb_ref	A
chr22:24483621	snp_fw_seq3	AAT/AGT
chr22:24483621	snp_rv_seq3	ATT/ACT
chr22:24483621	func	silent,silent,silent
chr22:24483621	transcript	NM_001199281,NM_001201429,NM_012295
chr22:24483621	genomic	.,.,.
chr22:24483621	codon	.,.,.
chr22:24483621	protein	.,.,.
chr22:24483621	worst	silent
chr22:24483621	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24483621	nvar	1
chr22:24483621	var	chr22:24483621:A/G
chr22:24492061	allele_ref	T
chr22:24492061	allele_alt	C
chr22:24492061	seqdb_ref	T
chr22:24492061	snp_fw_seq3	TTA/TCA
chr22:24492061	snp_rv_seq3	TAA/TGA
chr22:24492061	func	intronic,intronic,intronic
chr22:24492061	transcript	NM_001199281,NM_001201429,NM_012295
chr22:24492061	genomic	.,.,.
chr22:24492061	codon	.,.,.
chr22:24492061	protein	.,.,.
chr22:24492061	worst	intronic
chr22:24492061	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24492061	nvar	1
chr22:24492061	var	chr22:24492061:T/C
chr22:24509492	allele_ref	A
chr22:24509492	allele_alt	G
chr22:24509492	seqdb_ref	A
chr22:24509492	snp_fw_seq3	TAG/TGG
chr22:24509492	snp_rv_seq3	CTA/CCA
chr22:24509492	func	intronic,intronic,intronic
chr22:24509492	transcript	NM_001199281,NM_001201429,NM_012295
chr22:24509492	genomic	.,.,.
chr22:24509492	codon	.,.,.
chr22:24509492	protein	.,.,.
chr22:24509492	worst	intronic
chr22:24509492	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24509492	nvar	1
chr22:24509492	var	chr22:24509492:A/G
chr22:24509512	allele_ref	T
chr22:24509512	allele_alt	C
chr22:24509512	seqdb_ref	T
chr22:24509512	snp_fw_seq3	CTC/CCC
chr22:24509512	snp_rv_seq3	GAG/GGG
chr22:24509512	func	intronic,intronic,intronic
chr22:24509512	transcript	NM_001199281,NM_001201429,NM_012295
chr22:24509512	genomic	.,.,.
chr22:24509512	codon	.,.,.
chr22:24509512	protein	.,.,.
chr22:24509512	worst	intronic
chr22:24509512	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24509512	nvar	1
chr22:24509512	var	chr22:24509512:T/C
chr22:24509662	allele_ref	G
chr22:24509662	allele_alt	A
chr22:24509662	seqdb_ref	G
chr22:24509662	snp_fw_seq3	AGT/AAT
chr22:24509662	snp_rv_seq3	ACT/ATT
chr22:24509662	func	missense,missense,missense
chr22:24509662	transcript	NM_001199281,NM_001201429,NM_012295
chr22:24509662	genomic	g.4247G>A,g.4097G>A,g.4247G>A
chr22:24509662	codon	c.4247AGT>AAT,c.4097AGT>AAT,c.4247AGT>AAT
chr22:24509662	protein	p.1416S>N,p.1366S>N,p.1416S>N
chr22:24509662	worst	missense
chr22:24509662	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24509662	nvar	1
chr22:24509662	var	chr22:24509662:G/A
chr22:24560427	allele_ref	G
chr22:24560427	allele_alt	T
chr22:24560427	seqdb_ref	G
chr22:24560427	snp_fw_seq3	TGA/TTA
chr22:24560427	snp_rv_seq3	TCA/TAA
chr22:24560427	func	missense,missense,missense
chr22:24560427	transcript	NM_001199281,NM_001201429,NM_012295
chr22:24560427	genomic	g.4806G>T,g.4656G>T,g.4806G>T
chr22:24560427	codon	c.4806ATG>ATT,c.4656ATG>ATT,c.4806ATG>ATT
chr22:24560427	protein	p.1602M>I,p.1552M>I,p.1602M>I
chr22:24560427	worst	missense
chr22:24560427	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24560427	nvar	1
chr22:24560427	var	chr22:24560427:G/T
chr22:24561582	allele_ref	C
chr22:24561582	allele_alt	T
chr22:24561582	seqdb_ref	C
chr22:24561582	snp_fw_seq3	GCG/GTG
chr22:24561582	snp_rv_seq3	CGC/CAC
chr22:24561582	func	silent,silent,silent
chr22:24561582	transcript	NM_001199281,NM_001201429,NM_012295
chr22:24561582	genomic	.,.,.
chr22:24561582	codon	.,.,.
chr22:24561582	protein	.,.,.
chr22:24561582	worst	silent
chr22:24561582	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24561582	nvar	1
chr22:24561582	var	chr22:24561582:C/T
chr22:24567891	allele_ref	C
chr22:24567891	allele_alt	G
chr22:24567891	seqdb_ref	C
chr22:24567891	snp_fw_seq3	CCA/CGA
chr22:24567891	snp_rv_seq3	TGG/TCG
chr22:24567891	func	missense,missense,missense
chr22:24567891	transcript	NM_001199281,NM_001201429,NM_012295
chr22:24567891	genomic	g.5968C>G,g.5818C>G,g.5968C>G
chr22:24567891	codon	c.5968CAG>GAG,c.5818CAG>GAG,c.5968CAG>GAG
chr22:24567891	protein	p.1990Q>E,p.1940Q>E,p.1990Q>E
chr22:24567891	worst	missense
chr22:24567891	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24567891	nvar	1
chr22:24567891	var	chr22:24567891:C/G
chr22:24572034	allele_ref	G
chr22:24572034	allele_alt	A
chr22:24572034	seqdb_ref	G
chr22:24572034	snp_fw_seq3	CGG/CAG
chr22:24572034	snp_rv_seq3	CCG/CTG
chr22:24572034	func	intronic,intronic,intronic
chr22:24572034	transcript	NM_001199281,NM_001201429,NM_012295
chr22:24572034	genomic	.,.,.
chr22:24572034	codon	.,.,.
chr22:24572034	protein	.,.,.
chr22:24572034	worst	intronic
chr22:24572034	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24572034	nvar	1
chr22:24572034	var	chr22:24572034:G/A
chr22:24573593	allele_ref	C
chr22:24573593	allele_alt	T
chr22:24573593	seqdb_ref	C
chr22:24573593	snp_fw_seq3	CCC/CTC
chr22:24573593	snp_rv_seq3	GGG/GAG
chr22:24573593	func	silent,silent,silent
chr22:24573593	transcript	NM_001199281,NM_001201429,NM_012295
chr22:24573593	genomic	.,.,.
chr22:24573593	codon	.,.,.
chr22:24573593	protein	.,.,.
chr22:24573593	worst	silent
chr22:24573593	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24573593	nvar	1
chr22:24573593	var	chr22:24573593:C/T
chr22:24574017	allele_ref	G
chr22:24574017	allele_alt	A
chr22:24574017	seqdb_ref	G
chr22:24574017	snp_fw_seq3	CGC/CAC
chr22:24574017	snp_rv_seq3	GCG/GTG
chr22:24574017	func	intronic,splice,intronic,splice,intronic,splice
chr22:24574017	annot_details	DIST=-4,NMD=0,OFPTV=1,EXIN=37,ISEQ=CCGCAG,ESEQ=TCAGCC,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS37+-4G>A,DIST=-4,NMD=0,OFPTV=1,EXIN=36,ISEQ=CCGCAG,ESEQ=TCAGCC,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS36+-4G>A,DIST=-4,NMD=0,OFPTV=1,EXIN=37,ISEQ=CCGCAG,ESEQ=TCAGCC,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS37+-4G>A
chr22:24574017	transcript	NM_001199281,NM_001199281,NM_001201429,NM_001201429,NM_012295,NM_012295
chr22:24574017	genomic	.,.,.,.,.,.
chr22:24574017	codon	.,.,.,.,.,.
chr22:24574017	protein	.,.,.,.,.,.
chr22:24574017	worst	splice
chr22:24574017	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=3,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24574017	nvar	1
chr22:24574017	var	chr22:24574017:G/A
chr22:24574185	allele_ref	G
chr22:24574185	allele_alt	A
chr22:24574185	seqdb_ref	G
chr22:24574185	snp_fw_seq3	CGC/CAC
chr22:24574185	snp_rv_seq3	GCG/GTG
chr22:24574185	func	3-UTR,3-UTR,3-UTR
chr22:24574185	transcript	NM_001199281,NM_001201429,NM_012295
chr22:24574185	genomic	.,.,.
chr22:24574185	codon	.,.,.
chr22:24574185	protein	.,.,.
chr22:24574185	worst	UTR3
chr22:24574185	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=3,npcRNA=0
chr22:24574185	nvar	1
chr22:24574185	var	chr22:24574185:G/A
chr22:24577531	allele_ref	C
chr22:24577531	allele_alt	T
chr22:24577531	seqdb_ref	C
chr22:24577531	snp_fw_seq3	ACA/ATA
chr22:24577531	snp_rv_seq3	TGT/TAT
chr22:24577531	func	missense
chr22:24577531	transcript	NM_019601
chr22:24577531	genomic	g.44C>T
chr22:24577531	codon	c.44ACA>ATA
chr22:24577531	protein	p.15T>I
chr22:24577531	worst	missense
chr22:24577531	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24577531	nvar	1
chr22:24577531	var	chr22:24577531:C/T
chr22:24579503	allele_ref	T
chr22:24579503	allele_alt	A
chr22:24579503	seqdb_ref	T
chr22:24579503	snp_fw_seq3	CTC/CAC
chr22:24579503	snp_rv_seq3	GAG/GTG
chr22:24579503	func	missense
chr22:24579503	transcript	NM_019601
chr22:24579503	genomic	g.328T>A
chr22:24579503	codon	c.328TCC>ACC
chr22:24579503	protein	p.110S>T
chr22:24579503	worst	missense
chr22:24579503	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24579503	nvar	1
chr22:24579503	var	chr22:24579503:T/A
chr22:24579530	allele_ref	C
chr22:24579530	allele_alt	T
chr22:24579530	seqdb_ref	C
chr22:24579530	snp_fw_seq3	TCT/TTT
chr22:24579530	snp_rv_seq3	AGA/AAA
chr22:24579530	func	silent
chr22:24579530	transcript	NM_019601
chr22:24579530	genomic	.
chr22:24579530	codon	.
chr22:24579530	protein	.
chr22:24579530	worst	silent
chr22:24579530	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24579530	nvar	1
chr22:24579530	var	chr22:24579530:C/T
chr22:24580924	allele_ref	T
chr22:24580924	allele_alt	G
chr22:24580924	seqdb_ref	T
chr22:24580924	snp_fw_seq3	ATG/AGG
chr22:24580924	snp_rv_seq3	CAT/CCT
chr22:24580924	func	intronic
chr22:24580924	transcript	NM_019601
chr22:24580924	genomic	.
chr22:24580924	codon	.
chr22:24580924	protein	.
chr22:24580924	worst	intronic
chr22:24580924	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24580924	nvar	1
chr22:24580924	var	chr22:24580924:T/G
chr22:24581123	allele_ref	C
chr22:24581123	allele_alt	T
chr22:24581123	seqdb_ref	C
chr22:24581123	snp_fw_seq3	CCG/CTG
chr22:24581123	snp_rv_seq3	CGG/CAG
chr22:24581123	func	nonsense
chr22:24581123	annot_details	NMD=1,OFPTV=1,PEPSIZE=823->282,HGVS=p.R282*
chr22:24581123	transcript	NM_019601
chr22:24581123	genomic	g.844C>T
chr22:24581123	codon	c.844CGA>TGA
chr22:24581123	protein	p.282R>*
chr22:24581123	worst	nonsense
chr22:24581123	class	nonsense,NON=1,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24581123	nvar	1
chr22:24581123	var	chr22:24581123:C/T
chr22:24581182	allele_ref	T
chr22:24581182	allele_alt	C
chr22:24581182	seqdb_ref	T
chr22:24581182	snp_fw_seq3	ATC/ACC
chr22:24581182	snp_rv_seq3	GAT/GGT
chr22:24581182	func	silent
chr22:24581182	transcript	NM_019601
chr22:24581182	genomic	.
chr22:24581182	codon	.
chr22:24581182	protein	.
chr22:24581182	worst	silent
chr22:24581182	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24581182	nvar	1
chr22:24581182	var	chr22:24581182:T/C
chr22:24581207	allele_ref	C
chr22:24581207	allele_alt	T
chr22:24581207	seqdb_ref	C
chr22:24581207	snp_fw_seq3	GCT/GTT
chr22:24581207	snp_rv_seq3	AGC/AAC
chr22:24581207	func	silent
chr22:24581207	transcript	NM_019601
chr22:24581207	genomic	.
chr22:24581207	codon	.
chr22:24581207	protein	.
chr22:24581207	worst	silent
chr22:24581207	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24581207	nvar	1
chr22:24581207	var	chr22:24581207:C/T
chr22:24581617	allele_ref	T
chr22:24581617	allele_alt	G
chr22:24581617	seqdb_ref	T
chr22:24581617	snp_fw_seq3	CTG/CGG
chr22:24581617	snp_rv_seq3	CAG/CCG
chr22:24581617	func	intronic
chr22:24581617	transcript	NM_019601
chr22:24581617	genomic	.
chr22:24581617	codon	.
chr22:24581617	protein	.
chr22:24581617	worst	intronic
chr22:24581617	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24581617	nvar	1
chr22:24581617	var	chr22:24581617:T/G
chr22:24581921	allele_ref	A
chr22:24581921	allele_alt	T
chr22:24581921	seqdb_ref	A
chr22:24581921	snp_fw_seq3	GAC/GTC
chr22:24581921	snp_rv_seq3	GTC/GAC
chr22:24581921	func	intronic
chr22:24581921	transcript	NM_019601
chr22:24581921	genomic	.
chr22:24581921	codon	.
chr22:24581921	protein	.
chr22:24581921	worst	intronic
chr22:24581921	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24581921	nvar	1
chr22:24581921	var	chr22:24581921:A/T
chr22:24582041	allele_ref	A
chr22:24582041	allele_alt	G
chr22:24582041	seqdb_ref	A
chr22:24582041	snp_fw_seq3	AAT/AGT
chr22:24582041	snp_rv_seq3	ATT/ACT
chr22:24582041	func	missense
chr22:24582041	transcript	NM_019601
chr22:24582041	genomic	g.1397A>G
chr22:24582041	codon	c.1397AAT>AGT
chr22:24582041	protein	p.466N>S
chr22:24582041	worst	missense
chr22:24582041	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24582041	nvar	1
chr22:24582041	var	chr22:24582041:A/G
chr22:24582236	allele_ref	C
chr22:24582236	allele_alt	T
chr22:24582236	seqdb_ref	C
chr22:24582236	snp_fw_seq3	CCG/CTG
chr22:24582236	snp_rv_seq3	CGG/CAG
chr22:24582236	func	missense
chr22:24582236	transcript	NM_019601
chr22:24582236	genomic	g.1495C>T
chr22:24582236	codon	c.1495CGT>TGT
chr22:24582236	protein	p.499R>C
chr22:24582236	worst	missense
chr22:24582236	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24582236	nvar	1
chr22:24582236	var	chr22:24582236:C/T
chr22:24583270	allele_ref	C
chr22:24583270	allele_alt	T
chr22:24583270	seqdb_ref	C
chr22:24583270	snp_fw_seq3	CCG/CTG
chr22:24583270	snp_rv_seq3	CGG/CAG
chr22:24583270	func	silent
chr22:24583270	transcript	NM_019601
chr22:24583270	genomic	.
chr22:24583270	codon	.
chr22:24583270	protein	.
chr22:24583270	worst	silent
chr22:24583270	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24583270	nvar	1
chr22:24583270	var	chr22:24583270:C/T
chr22:24583384	allele_ref	C
chr22:24583384	allele_alt	T
chr22:24583384	seqdb_ref	C
chr22:24583384	snp_fw_seq3	CCA/CTA
chr22:24583384	snp_rv_seq3	TGG/TAG
chr22:24583384	func	silent
chr22:24583384	transcript	NM_019601
chr22:24583384	genomic	.
chr22:24583384	codon	.
chr22:24583384	protein	.
chr22:24583384	worst	silent
chr22:24583384	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24583384	nvar	1
chr22:24583384	var	chr22:24583384:C/T
chr22:24583544	allele_ref	G
chr22:24583544	allele_alt	A
chr22:24583544	seqdb_ref	G
chr22:24583544	snp_fw_seq3	CGT/CAT
chr22:24583544	snp_rv_seq3	ACG/ATG
chr22:24583544	func	missense
chr22:24583544	transcript	NM_019601
chr22:24583544	genomic	g.1897G>A
chr22:24583544	codon	c.1897GTG>ATG
chr22:24583544	protein	p.633V>M
chr22:24583544	worst	missense
chr22:24583544	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24583544	nvar	1
chr22:24583544	var	chr22:24583544:G/A
chr22:24583829	allele_ref	G
chr22:24583829	allele_alt	A
chr22:24583829	seqdb_ref	G
chr22:24583829	snp_fw_seq3	GGG/GAG
chr22:24583829	snp_rv_seq3	CCC/CTC
chr22:24583829	func	intronic
chr22:24583829	transcript	NM_019601
chr22:24583829	genomic	.
chr22:24583829	codon	.
chr22:24583829	protein	.
chr22:24583829	worst	intronic
chr22:24583829	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24583829	nvar	1
chr22:24583829	var	chr22:24583829:G/A
chr22:24583879	allele_ref	T
chr22:24583879	allele_alt	C
chr22:24583879	seqdb_ref	T
chr22:24583879	snp_fw_seq3	GTA/GCA
chr22:24583879	snp_rv_seq3	TAC/TGC
chr22:24583879	func	intronic
chr22:24583879	transcript	NM_019601
chr22:24583879	genomic	.
chr22:24583879	codon	.
chr22:24583879	protein	.
chr22:24583879	worst	intronic
chr22:24583879	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24583879	nvar	1
chr22:24583879	var	chr22:24583879:T/C
chr22:24584021	allele_ref	C
chr22:24584021	allele_alt	T
chr22:24584021	seqdb_ref	C
chr22:24584021	snp_fw_seq3	ACG/ATG
chr22:24584021	snp_rv_seq3	CGT/CAT
chr22:24584021	func	silent
chr22:24584021	transcript	NM_019601
chr22:24584021	genomic	.
chr22:24584021	codon	.
chr22:24584021	protein	.
chr22:24584021	worst	silent
chr22:24584021	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24584021	nvar	1
chr22:24584021	var	chr22:24584021:C/T
chr22:24584359	allele_ref	C
chr22:24584359	allele_alt	T
chr22:24584359	seqdb_ref	C
chr22:24584359	snp_fw_seq3	TCT/TTT
chr22:24584359	snp_rv_seq3	AGA/AAA
chr22:24584359	func	intronic
chr22:24584359	transcript	NM_019601
chr22:24584359	genomic	.
chr22:24584359	codon	.
chr22:24584359	protein	.
chr22:24584359	worst	intronic
chr22:24584359	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24584359	nvar	1
chr22:24584359	var	chr22:24584359:C/T
chr22:24621293	allele_ref	T
chr22:24621293	allele_alt	C
chr22:24621293	seqdb_ref	T
chr22:24621293	snp_fw_seq3	ATG/ACG
chr22:24621293	snp_rv_seq3	CAT/CGT
chr22:24621293	func	missense,missense,missense
chr22:24621293	transcript	NM_001099781,NM_001099782,NM_004121
chr22:24621293	genomic	g.1426T>C,g.1327T>C,g.1423T>C
chr22:24621293	codon	c.1426ATC>GTC,c.1327ATC>GTC,c.1423ATC>GTC
chr22:24621293	protein	p.476I>V,p.443I>V,p.475I>V
chr22:24621293	worst	missense
chr22:24621293	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24621293	nvar	1
chr22:24621293	var	chr22:24621293:T/C
chr22:24621394	allele_ref	G
chr22:24621394	allele_alt	A
chr22:24621394	seqdb_ref	G
chr22:24621394	snp_fw_seq3	AGC/AAC
chr22:24621394	snp_rv_seq3	GCT/GTT
chr22:24621394	func	intronic,intronic,intronic
chr22:24621394	transcript	NM_001099781,NM_001099782,NM_004121
chr22:24621394	genomic	.,.,.
chr22:24621394	codon	.,.,.
chr22:24621394	protein	.,.,.
chr22:24621394	worst	intronic
chr22:24621394	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24621394	nvar	1
chr22:24621394	var	chr22:24621394:G/A
chr22:24621540	allele_ref	C
chr22:24621540	allele_alt	T
chr22:24621540	seqdb_ref	C
chr22:24621540	snp_fw_seq3	CCG/CTG
chr22:24621540	snp_rv_seq3	CGG/CAG
chr22:24621540	func	missense,missense,missense
chr22:24621540	transcript	NM_001099781,NM_001099782,NM_004121
chr22:24621540	genomic	g.1310C>T,g.1214C>T,g.1310C>T
chr22:24621540	codon	c.1310CGG>CAG,c.1214CGG>CAG,c.1310CGG>CAG
chr22:24621540	protein	p.437R>Q,p.405R>Q,p.437R>Q
chr22:24621540	worst	missense
chr22:24621540	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24621540	nvar	1
chr22:24621540	var	chr22:24621540:C/T
chr22:24622124	allele_ref	G
chr22:24622124	allele_alt	A
chr22:24622124	seqdb_ref	G
chr22:24622124	snp_fw_seq3	GGC/GAC
chr22:24622124	snp_rv_seq3	GCC/GTC
chr22:24622124	func	silent,silent,silent
chr22:24622124	transcript	NM_001099781,NM_001099782,NM_004121
chr22:24622124	genomic	.,.,.
chr22:24622124	codon	.,.,.
chr22:24622124	protein	.,.,.
chr22:24622124	worst	silent
chr22:24622124	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24622124	nvar	1
chr22:24622124	var	chr22:24622124:G/A
chr22:24622648	allele_ref	T
chr22:24622648	allele_alt	C
chr22:24622648	seqdb_ref	T
chr22:24622648	snp_fw_seq3	CTT/CCT
chr22:24622648	snp_rv_seq3	AAG/AGG
chr22:24622648	func	missense,missense,missense
chr22:24622648	transcript	NM_001099781,NM_001099782,NM_004121
chr22:24622648	genomic	g.989T>C,g.893T>C,g.989T>C
chr22:24622648	codon	c.989AAG>AGG,c.893AAG>AGG,c.989AAG>AGG
chr22:24622648	protein	p.330K>R,p.298K>R,p.330K>R
chr22:24622648	worst	missense
chr22:24622648	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24622648	nvar	1
chr22:24622648	var	chr22:24622648:T/C
chr22:24627309	allele_ref	C
chr22:24627309	allele_alt	T
chr22:24627309	seqdb_ref	C
chr22:24627309	snp_fw_seq3	GCG/GTG
chr22:24627309	snp_rv_seq3	CGC/CAC
chr22:24627309	func	intronic,intronic,intronic
chr22:24627309	transcript	NM_001099781,NM_001099782,NM_004121
chr22:24627309	genomic	.,.,.
chr22:24627309	codon	.,.,.
chr22:24627309	protein	.,.,.
chr22:24627309	worst	intronic
chr22:24627309	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24627309	nvar	1
chr22:24627309	var	chr22:24627309:C/T
chr22:24628161	allele_ref	G
chr22:24628161	allele_alt	A
chr22:24628161	seqdb_ref	G
chr22:24628161	snp_fw_seq3	CGT/CAT
chr22:24628161	snp_rv_seq3	ACG/ATG
chr22:24628161	func	silent,silent,silent
chr22:24628161	transcript	NM_001099781,NM_001099782,NM_004121
chr22:24628161	genomic	.,.,.
chr22:24628161	codon	.,.,.
chr22:24628161	protein	.,.,.
chr22:24628161	worst	silent
chr22:24628161	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24628161	nvar	1
chr22:24628161	var	chr22:24628161:G/A
chr22:24628928	allele_ref	G
chr22:24628928	allele_alt	A
chr22:24628928	seqdb_ref	G
chr22:24628928	snp_fw_seq3	GGC/GAC
chr22:24628928	snp_rv_seq3	GCC/GTC
chr22:24628928	func	silent,silent,silent
chr22:24628928	transcript	NM_001099781,NM_001099782,NM_004121
chr22:24628928	genomic	.,.,.
chr22:24628928	codon	.,.,.
chr22:24628928	protein	.,.,.
chr22:24628928	worst	silent
chr22:24628928	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24628928	nvar	1
chr22:24628928	var	chr22:24628928:G/A
chr22:24629461	allele_ref	G
chr22:24629461	allele_alt	T
chr22:24629461	seqdb_ref	G
chr22:24629461	snp_fw_seq3	CGT/CTT
chr22:24629461	snp_rv_seq3	ACG/AAG
chr22:24629461	func	intronic,splice,intronic,intronic,splice
chr22:24629461	annot_details	DIST=5,NMD=0,OFPTV=0,EXIN=3,ISEQ=GCAGTG,ESEQ=GACACG,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS3+5C>A,DIST=5,NMD=0,OFPTV=0,EXIN=3,ISEQ=GCAGTG,ESEQ=GACACG,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS3+5C>A
chr22:24629461	transcript	NM_001099781,NM_001099781,NM_001099782,NM_004121,NM_004121
chr22:24629461	genomic	.,.,.,.,.
chr22:24629461	codon	.,.,.,.,.
chr22:24629461	protein	.,.,.,.,.
chr22:24629461	worst	splice
chr22:24629461	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24629461	nvar	1
chr22:24629461	var	chr22:24629461:G/T
chr22:24629795	allele_ref	G
chr22:24629795	allele_alt	A
chr22:24629795	seqdb_ref	G
chr22:24629795	snp_fw_seq3	GGT/GAT
chr22:24629795	snp_rv_seq3	ACC/ATC
chr22:24629795	func	intronic,intronic,intronic
chr22:24629795	transcript	NM_001099781,NM_001099782,NM_004121
chr22:24629795	genomic	.,.,.
chr22:24629795	codon	.,.,.
chr22:24629795	protein	.,.,.
chr22:24629795	worst	intronic
chr22:24629795	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24629795	nvar	1
chr22:24629795	var	chr22:24629795:G/A
chr22:24629930	allele_ref	G
chr22:24629930	allele_alt	A
chr22:24629930	seqdb_ref	G
chr22:24629930	snp_fw_seq3	CGA/CAA
chr22:24629930	snp_rv_seq3	TCG/TTG
chr22:24629930	func	silent,silent,silent
chr22:24629930	transcript	NM_001099781,NM_001099782,NM_004121
chr22:24629930	genomic	.,.,.
chr22:24629930	codon	.,.,.
chr22:24629930	protein	.,.,.
chr22:24629930	worst	silent
chr22:24629930	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24629930	nvar	1
chr22:24629930	var	chr22:24629930:G/A
chr22:24640666	allele_ref	T
chr22:24640666	allele_alt	C
chr22:24640666	seqdb_ref	T
chr22:24640666	snp_fw_seq3	CTG/CCG
chr22:24640666	snp_rv_seq3	CAG/CGG
chr22:24640666	func	missense,missense,missense
chr22:24640666	transcript	NM_001099781,NM_001099782,NM_004121
chr22:24640666	genomic	g.28T>C,g.28T>C,g.28T>C
chr22:24640666	codon	c.28AGC>GGC,c.28AGC>GGC,c.28AGC>GGC
chr22:24640666	protein	p.10S>G,p.10S>G,p.10S>G
chr22:24640666	worst	missense
chr22:24640666	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24640666	nvar	1
chr22:24640666	var	chr22:24640666:T/C
chr22:24717258	allele_ref	A
chr22:24717258	allele_alt	G
chr22:24717258	seqdb_ref	A
chr22:24717258	snp_fw_seq3	CAC/CGC
chr22:24717258	snp_rv_seq3	GTG/GCG
chr22:24717258	func	splice,missense,splice,missense,splice,missense
chr22:24717258	annot_details	DIST=2,NMD=0,OFPTV=0,EXIN=4,ISEQ=ACATAG,ESEQ=GCACAG,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS4+2A>G,DIST=2,NMD=0,OFPTV=0,EXIN=4,ISEQ=ACATAG,ESEQ=GCACAG,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS4+2A>G,DIST=2,NMD=0,OFPTV=1,EXIN=5,ISEQ=ACATAG,ESEQ=GCACAG,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS5+2A>G
chr22:24717258	transcript	NM_001145468,NM_001145468,NM_001254732,NM_001254732,NM_015330,NM_015330
chr22:24717258	genomic	.,g.310A>G,.,g.310A>G,.,g.310A>G
chr22:24717258	codon	.,c.310ACA>GCA,.,c.310ACA>GCA,.,c.310ACA>GCA
chr22:24717258	protein	.,p.104T>A,.,p.104T>A,.,p.104T>A
chr22:24717258	worst	missense
chr22:24717258	class	mixed,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=3,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24717258	nvar	1
chr22:24717258	var	chr22:24717258:A/G
chr22:24717518	allele_ref	G
chr22:24717518	allele_alt	A
chr22:24717518	seqdb_ref	G
chr22:24717518	snp_fw_seq3	CGC/CAC
chr22:24717518	snp_rv_seq3	GCG/GTG
chr22:24717518	func	silent,silent,silent
chr22:24717518	transcript	NM_001145468,NM_001254732,NM_015330
chr22:24717518	genomic	.,.,.
chr22:24717518	codon	.,.,.
chr22:24717518	protein	.,.,.
chr22:24717518	worst	silent
chr22:24717518	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24717518	nvar	1
chr22:24717518	var	chr22:24717518:G/A
chr22:24717850	allele_ref	A
chr22:24717850	allele_alt	G
chr22:24717850	seqdb_ref	A
chr22:24717850	snp_fw_seq3	GAT/GGT
chr22:24717850	snp_rv_seq3	ATC/ACC
chr22:24717850	func	missense,missense,missense
chr22:24717850	transcript	NM_001145468,NM_001254732,NM_015330
chr22:24717850	genomic	g.902A>G,g.902A>G,g.902A>G
chr22:24717850	codon	c.902GAT>GGT,c.902GAT>GGT,c.902GAT>GGT
chr22:24717850	protein	p.301D>G,p.301D>G,p.301D>G
chr22:24717850	worst	missense
chr22:24717850	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24717850	nvar	1
chr22:24717850	var	chr22:24717850:A/G
chr22:24718307	allele_ref	C
chr22:24718307	allele_alt	T
chr22:24718307	seqdb_ref	C
chr22:24718307	snp_fw_seq3	GCG/GTG
chr22:24718307	snp_rv_seq3	CGC/CAC
chr22:24718307	func	silent,silent,silent
chr22:24718307	transcript	NM_001145468,NM_001254732,NM_015330
chr22:24718307	genomic	.,.,.
chr22:24718307	codon	.,.,.
chr22:24718307	protein	.,.,.
chr22:24718307	worst	silent
chr22:24718307	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24718307	nvar	1
chr22:24718307	var	chr22:24718307:C/T
chr22:24730340	allele_ref	C
chr22:24730340	allele_alt	T
chr22:24730340	seqdb_ref	C
chr22:24730340	snp_fw_seq3	ACC/ATC
chr22:24730340	snp_rv_seq3	GGT/GAT
chr22:24730340	func	intronic,intronic,intronic
chr22:24730340	transcript	NM_001145468,NM_001254732,NM_015330
chr22:24730340	genomic	.,.,.
chr22:24730340	codon	.,.,.
chr22:24730340	protein	.,.,.
chr22:24730340	worst	intronic
chr22:24730340	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24730340	nvar	1
chr22:24730340	var	chr22:24730340:C/T
chr22:24730587	allele_ref	C
chr22:24730587	allele_alt	T
chr22:24730587	seqdb_ref	C
chr22:24730587	snp_fw_seq3	TCA/TTA
chr22:24730587	snp_rv_seq3	TGA/TAA
chr22:24730587	func	intronic,intronic,intronic
chr22:24730587	transcript	NM_001145468,NM_001254732,NM_015330
chr22:24730587	genomic	.,.,.
chr22:24730587	codon	.,.,.
chr22:24730587	protein	.,.,.
chr22:24730587	worst	intronic
chr22:24730587	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24730587	nvar	1
chr22:24730587	var	chr22:24730587:C/T
chr22:24761467	allele_ref	G
chr22:24761467	allele_alt	A
chr22:24761467	seqdb_ref	G
chr22:24761467	snp_fw_seq3	AGT/AAT
chr22:24761467	snp_rv_seq3	ACT/ATT
chr22:24761467	func	missense,missense,missense,missense
chr22:24761467	transcript	NM_001145468,NM_001254732,NM_001254733,NM_015330
chr22:24761467	genomic	g.2851G>A,g.2851G>A,g.49G>A,g.2851G>A
chr22:24761467	codon	c.2851GTG>ATG,c.2851GTG>ATG,c.49GTG>ATG,c.2851GTG>ATG
chr22:24761467	protein	p.951V>M,p.951V>M,p.17V>M,p.951V>M
chr22:24761467	worst	missense
chr22:24761467	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24761467	nvar	1
chr22:24761467	var	chr22:24761467:G/A
chr22:24829521	allele_ref	C
chr22:24829521	allele_alt	T
chr22:24829521	seqdb_ref	C
chr22:24829521	snp_fw_seq3	GCG/GTG
chr22:24829521	snp_rv_seq3	CGC/CAC
chr22:24829521	func	missense,intronic
chr22:24829521	transcript	NM_000675,NR_028484
chr22:24829521	genomic	g.149C>T,.
chr22:24829521	codon	c.149GCG>GTG,.
chr22:24829521	protein	p.50A>V,.
chr22:24829521	worst	missense
chr22:24829521	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24829521	nvar	1
chr22:24829521	var	chr22:24829521:C/T
chr22:24836657	allele_ref	G
chr22:24836657	allele_alt	A
chr22:24836657	seqdb_ref	G
chr22:24836657	snp_fw_seq3	CGG/CAG
chr22:24836657	snp_rv_seq3	CCG/CTG
chr22:24836657	func	missense,intronic,intronic
chr22:24836657	transcript	NM_000675,NR_028483,NR_028484
chr22:24836657	genomic	g.439G>A,.,.
chr22:24836657	codon	c.439GGT>AGT,.,.
chr22:24836657	protein	p.147G>S,.,.
chr22:24836657	worst	missense
chr22:24836657	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24836657	nvar	1
chr22:24836657	var	chr22:24836657:G/A
chr22:24836929	allele_ref	C
chr22:24836929	allele_alt	A
chr22:24836929	seqdb_ref	C
chr22:24836929	snp_fw_seq3	TCA/TAA
chr22:24836929	snp_rv_seq3	TGA/TTA
chr22:24836929	func	silent,intronic,intronic
chr22:24836929	transcript	NM_000675,NR_028483,NR_028484
chr22:24836929	genomic	.,.,.
chr22:24836929	codon	.,.,.
chr22:24836929	protein	.,.,.
chr22:24836929	worst	silent
chr22:24836929	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24836929	nvar	1
chr22:24836929	var	chr22:24836929:C/A
chr22:24837262	allele_ref	C
chr22:24837262	allele_alt	T
chr22:24837262	seqdb_ref	C
chr22:24837262	snp_fw_seq3	ACG/ATG
chr22:24837262	snp_rv_seq3	CGT/CAT
chr22:24837262	func	silent,intronic,intronic
chr22:24837262	transcript	NM_000675,NR_028483,NR_028484
chr22:24837262	genomic	.,.,.
chr22:24837262	codon	.,.,.
chr22:24837262	protein	.,.,.
chr22:24837262	worst	silent
chr22:24837262	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24837262	nvar	1
chr22:24837262	var	chr22:24837262:C/T
chr22:24837301	allele_ref	T
chr22:24837301	allele_alt	C
chr22:24837301	seqdb_ref	T
chr22:24837301	snp_fw_seq3	ATG/ACG
chr22:24837301	snp_rv_seq3	CAT/CGT
chr22:24837301	func	silent,intronic,intronic
chr22:24837301	transcript	NM_000675,NR_028483,NR_028484
chr22:24837301	genomic	.,.,.
chr22:24837301	codon	.,.,.
chr22:24837301	protein	.,.,.
chr22:24837301	worst	silent
chr22:24837301	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24837301	nvar	1
chr22:24837301	var	chr22:24837301:T/C
chr22:24837424	allele_ref	C
chr22:24837424	allele_alt	A
chr22:24837424	seqdb_ref	C
chr22:24837424	snp_fw_seq3	ACC/AAC
chr22:24837424	snp_rv_seq3	GGT/GTT
chr22:24837424	func	missense,intronic,intronic
chr22:24837424	transcript	NM_000675,NR_028483,NR_028484
chr22:24837424	genomic	g.1206C>A,.,.
chr22:24837424	codon	c.1206GAC>GAA,.,.
chr22:24837424	protein	p.402D>E,.,.
chr22:24837424	worst	missense
chr22:24837424	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24837424	nvar	1
chr22:24837424	var	chr22:24837424:C/A
chr22:24896224	allele_ref	C
chr22:24896224	allele_alt	A
chr22:24896224	seqdb_ref	C
chr22:24896224	snp_fw_seq3	GCA/GAA
chr22:24896224	snp_rv_seq3	TGC/TTC
chr22:24896224	func	missense
chr22:24896224	transcript	NM_016327
chr22:24896224	genomic	g.254C>A
chr22:24896224	codon	c.254GCA>GAA
chr22:24896224	protein	p.85A>E
chr22:24896224	worst	missense
chr22:24896224	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24896224	nvar	1
chr22:24896224	var	chr22:24896224:C/A
chr22:24898175	allele_ref	G
chr22:24898175	allele_alt	T
chr22:24898175	seqdb_ref	G
chr22:24898175	snp_fw_seq3	AGC/ATC
chr22:24898175	snp_rv_seq3	GCT/GAT
chr22:24898175	func	missense
chr22:24898175	transcript	NM_016327
chr22:24898175	genomic	g.358G>T
chr22:24898175	codon	c.358GCA>TCA
chr22:24898175	protein	p.120A>S
chr22:24898175	worst	missense
chr22:24898175	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24898175	nvar	1
chr22:24898175	var	chr22:24898175:G/T
chr22:24911249	allele_ref	C
chr22:24911249	allele_alt	T
chr22:24911249	seqdb_ref	C
chr22:24911249	snp_fw_seq3	ACG/ATG
chr22:24911249	snp_rv_seq3	CGT/CAT
chr22:24911249	func	silent
chr22:24911249	transcript	NM_016327
chr22:24911249	genomic	.
chr22:24911249	codon	.
chr22:24911249	protein	.
chr22:24911249	worst	silent
chr22:24911249	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24911249	nvar	1
chr22:24911249	var	chr22:24911249:C/T
chr22:24916409	allele_ref	C
chr22:24916409	allele_alt	T
chr22:24916409	seqdb_ref	C
chr22:24916409	snp_fw_seq3	TCA/TTA
chr22:24916409	snp_rv_seq3	TGA/TAA
chr22:24916409	func	silent
chr22:24916409	transcript	NM_016327
chr22:24916409	genomic	.
chr22:24916409	codon	.
chr22:24916409	protein	.
chr22:24916409	worst	silent
chr22:24916409	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24916409	nvar	1
chr22:24916409	var	chr22:24916409:C/T
chr22:24916445	allele_ref	C
chr22:24916445	allele_alt	T
chr22:24916445	seqdb_ref	C
chr22:24916445	snp_fw_seq3	CCG/CTG
chr22:24916445	snp_rv_seq3	CGG/CAG
chr22:24916445	func	intronic
chr22:24916445	transcript	NM_016327
chr22:24916445	genomic	.
chr22:24916445	codon	.
chr22:24916445	protein	.
chr22:24916445	worst	intronic
chr22:24916445	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24916445	nvar	1
chr22:24916445	var	chr22:24916445:C/T
chr22:24921764	allele_ref	C
chr22:24921764	allele_alt	A
chr22:24921764	seqdb_ref	C
chr22:24921764	snp_fw_seq3	CCG/CAG
chr22:24921764	snp_rv_seq3	CGG/CTG
chr22:24921764	func	3-UTR
chr22:24921764	transcript	NM_016327
chr22:24921764	genomic	.
chr22:24921764	codon	.
chr22:24921764	protein	.
chr22:24921764	worst	UTR3
chr22:24921764	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:24921764	nvar	1
chr22:24921764	var	chr22:24921764:C/A
chr22:24939873	allele_ref	C
chr22:24939873	allele_alt	T
chr22:24939873	seqdb_ref	C
chr22:24939873	snp_fw_seq3	ACG/ATG
chr22:24939873	snp_rv_seq3	CGT/CAT
chr22:24939873	func	missense
chr22:24939873	transcript	NM_031444
chr22:24939873	genomic	g.565C>T
chr22:24939873	codon	c.565GTG>ATG
chr22:24939873	protein	p.189V>M
chr22:24939873	worst	missense
chr22:24939873	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24939873	nvar	1
chr22:24939873	var	chr22:24939873:C/T
chr22:24944053	allele_ref	C
chr22:24944053	allele_alt	T
chr22:24944053	seqdb_ref	C
chr22:24944053	snp_fw_seq3	ACG/ATG
chr22:24944053	snp_rv_seq3	CGT/CAT
chr22:24944053	func	intronic
chr22:24944053	transcript	NM_031444
chr22:24944053	genomic	.
chr22:24944053	codon	.
chr22:24944053	protein	.
chr22:24944053	worst	intronic
chr22:24944053	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24944053	nvar	1
chr22:24944053	var	chr22:24944053:C/T
chr22:24964128	allele_ref	T
chr22:24964128	allele_alt	C
chr22:24964128	seqdb_ref	T
chr22:24964128	snp_fw_seq3	CTA/CCA
chr22:24964128	snp_rv_seq3	TAG/TGG
chr22:24964128	func	silent
chr22:24964128	transcript	NM_004175
chr22:24964128	genomic	.
chr22:24964128	codon	.
chr22:24964128	protein	.
chr22:24964128	worst	silent
chr22:24964128	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24964128	nvar	1
chr22:24964128	var	chr22:24964128:T/C
chr22:24967962	allele_ref	G
chr22:24967962	allele_alt	A
chr22:24967962	seqdb_ref	G
chr22:24967962	snp_fw_seq3	AGA/AAA
chr22:24967962	snp_rv_seq3	TCT/TTT
chr22:24967962	func	3-UTR
chr22:24967962	transcript	NM_004175
chr22:24967962	genomic	.
chr22:24967962	codon	.
chr22:24967962	protein	.
chr22:24967962	worst	UTR3
chr22:24967962	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:24967962	nvar	1
chr22:24967962	var	chr22:24967962:G/A
chr22:24981880	allele_ref	C
chr22:24981880	allele_alt	T
chr22:24981880	seqdb_ref	C
chr22:24981880	snp_fw_seq3	TCG/TTG
chr22:24981880	snp_rv_seq3	CGA/CAA
chr22:24981880	func	intronic,missense
chr22:24981880	transcript	NM_013430,NM_207644
chr22:24981880	genomic	.,g.922C>T
chr22:24981880	codon	.,c.922GAG>AAG
chr22:24981880	protein	.,p.308E>K
chr22:24981880	worst	missense
chr22:24981880	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24981880	nvar	1
chr22:24981880	var	chr22:24981880:C/T
chr22:24981881	allele_ref	G
chr22:24981881	allele_alt	A
chr22:24981881	seqdb_ref	G
chr22:24981881	snp_fw_seq3	CGG/CAG
chr22:24981881	snp_rv_seq3	CCG/CTG
chr22:24981881	func	intronic,silent
chr22:24981881	transcript	NM_013430,NM_207644
chr22:24981881	genomic	.,.
chr22:24981881	codon	.,.
chr22:24981881	protein	.,.
chr22:24981881	worst	silent
chr22:24981881	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24981881	nvar	1
chr22:24981881	var	chr22:24981881:G/A
chr22:24982011	allele_ref	C
chr22:24982011	allele_alt	T
chr22:24982011	seqdb_ref	C
chr22:24982011	snp_fw_seq3	GCG/GTG
chr22:24982011	snp_rv_seq3	CGC/CAC
chr22:24982011	func	intronic,missense
chr22:24982011	transcript	NM_013430,NM_207644
chr22:24982011	genomic	.,g.791C>T
chr22:24982011	codon	.,c.791CGC>CAC
chr22:24982011	protein	.,p.264R>H
chr22:24982011	worst	missense
chr22:24982011	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24982011	nvar	1
chr22:24982011	var	chr22:24982011:C/T
chr22:24982137	allele_ref	C
chr22:24982137	allele_alt	T
chr22:24982137	seqdb_ref	C
chr22:24982137	snp_fw_seq3	CCG/CTG
chr22:24982137	snp_rv_seq3	CGG/CAG
chr22:24982137	func	intronic,missense
chr22:24982137	transcript	NM_013430,NM_207644
chr22:24982137	genomic	.,g.665C>T
chr22:24982137	codon	.,c.665CGG>CAG
chr22:24982137	protein	.,p.222R>Q
chr22:24982137	worst	missense
chr22:24982137	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24982137	nvar	1
chr22:24982137	var	chr22:24982137:C/T
chr22:24982181	allele_ref	C
chr22:24982181	allele_alt	T
chr22:24982181	seqdb_ref	C
chr22:24982181	snp_fw_seq3	GCA/GTA
chr22:24982181	snp_rv_seq3	TGC/TAC
chr22:24982181	func	intronic,silent
chr22:24982181	transcript	NM_013430,NM_207644
chr22:24982181	genomic	.,.
chr22:24982181	codon	.,.
chr22:24982181	protein	.,.
chr22:24982181	worst	silent
chr22:24982181	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24982181	nvar	1
chr22:24982181	var	chr22:24982181:C/T
chr22:24982233	allele_ref	G
chr22:24982233	allele_alt	A
chr22:24982233	seqdb_ref	G
chr22:24982233	snp_fw_seq3	CGT/CAT
chr22:24982233	snp_rv_seq3	ACG/ATG
chr22:24982233	func	intronic,missense
chr22:24982233	transcript	NM_013430,NM_207644
chr22:24982233	genomic	.,g.569G>A
chr22:24982233	codon	.,c.569ACG>ATG
chr22:24982233	protein	.,p.190T>M
chr22:24982233	worst	missense
chr22:24982233	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24982233	nvar	1
chr22:24982233	var	chr22:24982233:G/A
chr22:24984186	allele_ref	T
chr22:24984186	allele_alt	G
chr22:24984186	seqdb_ref	T
chr22:24984186	snp_fw_seq3	CTC/CGC
chr22:24984186	snp_rv_seq3	GAG/GCG
chr22:24984186	func	intronic,splice,missense
chr22:24984186	annot_details	DIST=-4,NMD=0,OFPTV=1,EXIN=3,ISEQ=GGAATG,ESEQ=GTCGAG,SPLICE_TYPE=donor,ALT=C,HGVS=c.IVS3+-4A>C
chr22:24984186	transcript	NM_013430,NM_207644,NM_207644
chr22:24984186	genomic	.,.,g.418T>G
chr22:24984186	codon	.,.,c.418AGC>CGC
chr22:24984186	protein	.,.,p.140S>R
chr22:24984186	worst	missense
chr22:24984186	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24984186	nvar	1
chr22:24984186	var	chr22:24984186:T/G
chr22:24984261	allele_ref	G
chr22:24984261	allele_alt	A
chr22:24984261	seqdb_ref	G
chr22:24984261	snp_fw_seq3	CGG/CAG
chr22:24984261	snp_rv_seq3	CCG/CTG
chr22:24984261	func	intronic,nonsense
chr22:24984261	annot_details	NMD=1,OFPTV=1,PEPSIZE=316->115,HGVS=p.R115*
chr22:24984261	transcript	NM_013430,NM_207644
chr22:24984261	genomic	.,g.343G>A
chr22:24984261	codon	.,c.343CGA>TGA
chr22:24984261	protein	.,p.115R>*
chr22:24984261	worst	nonsense
chr22:24984261	class	nonsense,NON=1,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24984261	nvar	1
chr22:24984261	var	chr22:24984261:G/A
chr22:24985840	allele_ref	G
chr22:24985840	allele_alt	T
chr22:24985840	seqdb_ref	G
chr22:24985840	snp_fw_seq3	AGA/ATA
chr22:24985840	snp_rv_seq3	TCT/TAT
chr22:24985840	func	intronic,silent
chr22:24985840	transcript	NM_013430,NM_207644
chr22:24985840	genomic	.,.
chr22:24985840	codon	.,.
chr22:24985840	protein	.,.
chr22:24985840	worst	silent
chr22:24985840	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:24985840	nvar	1
chr22:24985840	var	chr22:24985840:G/T
chr22:25010746	allele_ref	T
chr22:25010746	allele_alt	C
chr22:25010746	seqdb_ref	T
chr22:25010746	snp_fw_seq3	ATG/ACG
chr22:25010746	snp_rv_seq3	CAT/CGT
chr22:25010746	func	silent,splice,silent,splice,silent,splice,silent,splice
chr22:25010746	annot_details	DIST=3,NMD=0,OFPTV=1,EXIN=6,ISEQ=TGGCAG,ESEQ=GGATGC,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS6+3T>C,DIST=3,NMD=0,OFPTV=1,EXIN=6,ISEQ=TGGCAG,ESEQ=GGATGC,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS6+3T>C,DIST=3,NMD=0,OFPTV=0,EXIN=6,ISEQ=TGGCAG,ESEQ=GGATGC,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS6+3T>C,DIST=3,NMD=0,OFPTV=1,EXIN=6,ISEQ=TGGCAG,ESEQ=GGATGC,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS6+3T>C
chr22:25010746	transcript	NM_001032364,NM_001032364,NM_001032365,NM_001032365,NM_005265,NM_005265,NM_013430,NM_013430
chr22:25010746	genomic	.,.,.,.,.,.,.,.
chr22:25010746	codon	.,.,.,.,.,.,.,.
chr22:25010746	protein	.,.,.,.,.,.,.,.
chr22:25010746	worst	splice
chr22:25010746	class	mixed,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=4,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25010746	nvar	1
chr22:25010746	var	chr22:25010746:T/C
chr22:25010885	allele_ref	G
chr22:25010885	allele_alt	A
chr22:25010885	seqdb_ref	G
chr22:25010885	snp_fw_seq3	CGG/CAG
chr22:25010885	snp_rv_seq3	CCG/CTG
chr22:25010885	func	intronic,intronic,intronic,intronic
chr22:25010885	transcript	NM_001032364,NM_001032365,NM_005265,NM_013430
chr22:25010885	genomic	.,.,.,.
chr22:25010885	codon	.,.,.,.
chr22:25010885	protein	.,.,.,.
chr22:25010885	worst	intronic
chr22:25010885	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25010885	nvar	1
chr22:25010885	var	chr22:25010885:G/A
chr22:25115449	allele_ref	A
chr22:25115449	allele_alt	G
chr22:25115449	seqdb_ref	A
chr22:25115449	snp_fw_seq3	AAA/AGA
chr22:25115449	snp_rv_seq3	TTT/TCT
chr22:25115449	func	missense,missense,npcRNA,npcRNA
chr22:25115449	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25115449	genomic	g.2639A>G,g.2612A>G,.,.
chr22:25115449	codon	c.2639TTT>TCT,c.2612TTT>TCT,.,.
chr22:25115449	protein	p.880F>S,p.871F>S,.,.
chr22:25115449	worst	missense
chr22:25115449	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:25115449	nvar	1
chr22:25115449	var	chr22:25115449:A/G
chr22:25115456	allele_ref	G
chr22:25115456	allele_alt	A
chr22:25115456	seqdb_ref	G
chr22:25115456	snp_fw_seq3	CGA/CAA
chr22:25115456	snp_rv_seq3	TCG/TTG
chr22:25115456	func	missense,missense,npcRNA,npcRNA
chr22:25115456	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25115456	genomic	g.2632G>A,g.2605G>A,.,.
chr22:25115456	codon	c.2632CGT>TGT,c.2605CGT>TGT,.,.
chr22:25115456	protein	p.878R>C,p.869R>C,.,.
chr22:25115456	worst	missense
chr22:25115456	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:25115456	nvar	1
chr22:25115456	var	chr22:25115456:G/A
chr22:25115799	allele_ref	G
chr22:25115799	allele_alt	A
chr22:25115799	seqdb_ref	G
chr22:25115799	snp_fw_seq3	CGT/CAT
chr22:25115799	snp_rv_seq3	ACG/ATG
chr22:25115799	func	silent,silent,npcRNA,npcRNA
chr22:25115799	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25115799	genomic	.,.,.,.
chr22:25115799	codon	.,.,.,.
chr22:25115799	protein	.,.,.,.
chr22:25115799	worst	silent
chr22:25115799	class	mixed,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:25115799	nvar	1
chr22:25115799	var	chr22:25115799:G/A
chr22:25119062	allele_ref	C
chr22:25119062	allele_alt	T
chr22:25119062	seqdb_ref	C
chr22:25119062	snp_fw_seq3	TCA/TTA
chr22:25119062	snp_rv_seq3	TGA/TAA
chr22:25119062	func	intronic,intronic,intronic,intronic
chr22:25119062	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25119062	genomic	.,.,.,.
chr22:25119062	codon	.,.,.,.
chr22:25119062	protein	.,.,.,.
chr22:25119062	worst	intronic
chr22:25119062	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25119062	nvar	1
chr22:25119062	var	chr22:25119062:C/T
chr22:25119120	allele_ref	A
chr22:25119120	allele_alt	G
chr22:25119120	seqdb_ref	A
chr22:25119120	snp_fw_seq3	CAT/CGT
chr22:25119120	snp_rv_seq3	ATG/ACG
chr22:25119120	func	silent,silent,npcRNA,npcRNA
chr22:25119120	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25119120	genomic	.,.,.,.
chr22:25119120	codon	.,.,.,.
chr22:25119120	protein	.,.,.,.
chr22:25119120	worst	silent
chr22:25119120	class	mixed,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:25119120	nvar	1
chr22:25119120	var	chr22:25119120:A/G
chr22:25119210	allele_ref	A
chr22:25119210	allele_alt	C
chr22:25119210	seqdb_ref	A
chr22:25119210	snp_fw_seq3	AAG/ACG
chr22:25119210	snp_rv_seq3	CTT/CGT
chr22:25119210	func	silent,silent,npcRNA,npcRNA
chr22:25119210	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25119210	genomic	.,.,.,.
chr22:25119210	codon	.,.,.,.
chr22:25119210	protein	.,.,.,.
chr22:25119210	worst	silent
chr22:25119210	class	mixed,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:25119210	nvar	1
chr22:25119210	var	chr22:25119210:A/C
chr22:25124095	allele_ref	C
chr22:25124095	allele_alt	T
chr22:25124095	seqdb_ref	C
chr22:25124095	snp_fw_seq3	TCA/TTA
chr22:25124095	snp_rv_seq3	TGA/TAA
chr22:25124095	func	intronic,intronic,intronic,intronic
chr22:25124095	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25124095	genomic	.,.,.,.
chr22:25124095	codon	.,.,.,.
chr22:25124095	protein	.,.,.,.
chr22:25124095	worst	intronic
chr22:25124095	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25124095	nvar	1
chr22:25124095	var	chr22:25124095:C/T
chr22:25130050	allele_ref	C
chr22:25130050	allele_alt	A
chr22:25130050	seqdb_ref	C
chr22:25130050	snp_fw_seq3	ACC/AAC
chr22:25130050	snp_rv_seq3	GGT/GTT
chr22:25130050	func	intronic,splice-donor-in2,intronic,splice-donor-in2,intronic,splice-donor-in2,intronic,splice-donor-in2
chr22:25130050	annot_details	DIST=1,NMD=0,OFPTV=1,EXIN=14,ISEQ=TGAATG,ESEQ=GTAGAC,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS14+1G>T,DIST=1,NMD=0,OFPTV=1,EXIN=14,ISEQ=TGAATG,ESEQ=GTAGAC,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS14+1G>T,DIST=1,NMD=0,OFPTV=1,EXIN=15,ISEQ=TGAATG,ESEQ=GTAGAC,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS15+1G>T,DIST=1,NMD=0,OFPTV=1,EXIN=15,ISEQ=TGAATG,ESEQ=GTAGAC,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS15+1G>T
chr22:25130050	transcript	NM_001008496,NM_001008496,NM_001255975,NM_001255975,NR_045648,NR_045648,NR_045649,NR_045649
chr22:25130050	genomic	.,.,.,.,.,.,.,.
chr22:25130050	codon	.,.,.,.,.,.,.,.
chr22:25130050	protein	.,.,.,.,.,.,.,.
chr22:25130050	worst	esplice
chr22:25130050	class	esplice,NON=0,SL=0,MIS=0,SYN=0,ESPL=4,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25130050	nvar	1
chr22:25130050	var	chr22:25130050:C/A
chr22:25130068	allele_ref	T
chr22:25130068	allele_alt	C
chr22:25130068	seqdb_ref	T
chr22:25130068	snp_fw_seq3	CTA/CCA
chr22:25130068	snp_rv_seq3	TAG/TGG
chr22:25130068	func	missense,missense,npcRNA,npcRNA
chr22:25130068	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25130068	genomic	g.1690T>C,g.1690T>C,.,.
chr22:25130068	codon	c.1690AGA>GGA,c.1690AGA>GGA,.,.
chr22:25130068	protein	p.564R>G,p.564R>G,.,.
chr22:25130068	worst	missense
chr22:25130068	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:25130068	nvar	1
chr22:25130068	var	chr22:25130068:T/C
chr22:25130158	allele_ref	T
chr22:25130158	allele_alt	C
chr22:25130158	seqdb_ref	T
chr22:25130158	snp_fw_seq3	ATA/ACA
chr22:25130158	snp_rv_seq3	TAT/TGT
chr22:25130158	func	intronic,intronic,intronic,intronic
chr22:25130158	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25130158	genomic	.,.,.,.
chr22:25130158	codon	.,.,.,.
chr22:25130158	protein	.,.,.,.
chr22:25130158	worst	intronic
chr22:25130158	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25130158	nvar	1
chr22:25130158	var	chr22:25130158:T/C
chr22:25131837	allele_ref	T
chr22:25131837	allele_alt	C
chr22:25131837	seqdb_ref	T
chr22:25131837	snp_fw_seq3	GTC/GCC
chr22:25131837	snp_rv_seq3	GAC/GGC
chr22:25131837	func	missense,missense,npcRNA,npcRNA
chr22:25131837	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25131837	genomic	g.1472T>C,g.1472T>C,.,.
chr22:25131837	codon	c.1472GAC>GGC,c.1472GAC>GGC,.,.
chr22:25131837	protein	p.491D>G,p.491D>G,.,.
chr22:25131837	worst	missense
chr22:25131837	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:25131837	nvar	1
chr22:25131837	var	chr22:25131837:T/C
chr22:25144912	allele_ref	C
chr22:25144912	allele_alt	T
chr22:25144912	seqdb_ref	C
chr22:25144912	snp_fw_seq3	ACT/ATT
chr22:25144912	snp_rv_seq3	AGT/AAT
chr22:25144912	func	missense,missense,npcRNA,npcRNA
chr22:25144912	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25144912	genomic	g.1411C>T,g.1411C>T,.,.
chr22:25144912	codon	c.1411GTT>ATT,c.1411GTT>ATT,.,.
chr22:25144912	protein	p.471V>I,p.471V>I,.,.
chr22:25144912	worst	missense
chr22:25144912	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:25144912	nvar	1
chr22:25144912	var	chr22:25144912:C/T
chr22:25145453	allele_ref	C
chr22:25145453	allele_alt	T
chr22:25145453	seqdb_ref	C
chr22:25145453	snp_fw_seq3	ACA/ATA
chr22:25145453	snp_rv_seq3	TGT/TAT
chr22:25145453	func	missense,missense,npcRNA,npcRNA
chr22:25145453	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25145453	genomic	g.1252C>T,g.1252C>T,.,.
chr22:25145453	codon	c.1252GTG>ATG,c.1252GTG>ATG,.,.
chr22:25145453	protein	p.418V>M,p.418V>M,.,.
chr22:25145453	worst	missense
chr22:25145453	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:25145453	nvar	1
chr22:25145453	var	chr22:25145453:C/T
chr22:25145471	allele_ref	A
chr22:25145471	allele_alt	G
chr22:25145471	seqdb_ref	A
chr22:25145471	snp_fw_seq3	CAT/CGT
chr22:25145471	snp_rv_seq3	ATG/ACG
chr22:25145471	func	missense,missense,npcRNA,npcRNA
chr22:25145471	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25145471	genomic	g.1234A>G,g.1234A>G,.,.
chr22:25145471	codon	c.1234TGT>CGT,c.1234TGT>CGT,.,.
chr22:25145471	protein	p.412C>R,p.412C>R,.,.
chr22:25145471	worst	missense
chr22:25145471	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:25145471	nvar	1
chr22:25145471	var	chr22:25145471:A/G
chr22:25145511	allele_ref	C
chr22:25145511	allele_alt	A
chr22:25145511	seqdb_ref	C
chr22:25145511	snp_fw_seq3	ACA/AAA
chr22:25145511	snp_rv_seq3	TGT/TTT
chr22:25145511	func	intronic,intronic,intronic,intronic
chr22:25145511	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25145511	genomic	.,.,.,.
chr22:25145511	codon	.,.,.,.
chr22:25145511	protein	.,.,.,.
chr22:25145511	worst	intronic
chr22:25145511	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25145511	nvar	1
chr22:25145511	var	chr22:25145511:C/A
chr22:25147324	allele_ref	A
chr22:25147324	allele_alt	G
chr22:25147324	seqdb_ref	A
chr22:25147324	snp_fw_seq3	TAA/TGA
chr22:25147324	snp_rv_seq3	TTA/TCA
chr22:25147324	func	intronic,intronic,intronic,intronic
chr22:25147324	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25147324	genomic	.,.,.,.
chr22:25147324	codon	.,.,.,.
chr22:25147324	protein	.,.,.,.
chr22:25147324	worst	intronic
chr22:25147324	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25147324	nvar	1
chr22:25147324	var	chr22:25147324:A/G
chr22:25149988	allele_ref	G
chr22:25149988	allele_alt	C
chr22:25149988	seqdb_ref	G
chr22:25149988	snp_fw_seq3	AGA/ACA
chr22:25149988	snp_rv_seq3	TCT/TGT
chr22:25149988	func	missense,missense,npcRNA,npcRNA
chr22:25149988	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25149988	genomic	g.970G>C,g.970G>C,.,.
chr22:25149988	codon	c.970CTG>GTG,c.970CTG>GTG,.,.
chr22:25149988	protein	p.324L>V,p.324L>V,.,.
chr22:25149988	worst	missense
chr22:25149988	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:25149988	nvar	1
chr22:25149988	var	chr22:25149988:G/C
chr22:25150138	allele_ref	A
chr22:25150138	allele_alt	G
chr22:25150138	seqdb_ref	A
chr22:25150138	snp_fw_seq3	TAT/TGT
chr22:25150138	snp_rv_seq3	ATA/ACA
chr22:25150138	func	missense,missense,npcRNA,npcRNA
chr22:25150138	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25150138	genomic	g.820A>G,g.820A>G,.,.
chr22:25150138	codon	c.820TAC>CAC,c.820TAC>CAC,.,.
chr22:25150138	protein	p.274Y>H,p.274Y>H,.,.
chr22:25150138	worst	missense
chr22:25150138	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:25150138	nvar	1
chr22:25150138	var	chr22:25150138:A/G
chr22:25150797	allele_ref	G
chr22:25150797	allele_alt	A
chr22:25150797	seqdb_ref	G
chr22:25150797	snp_fw_seq3	CGA/CAA
chr22:25150797	snp_rv_seq3	TCG/TTG
chr22:25150797	func	missense,missense,npcRNA,npcRNA
chr22:25150797	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25150797	genomic	g.727G>A,g.727G>A,.,.
chr22:25150797	codon	c.727CGC>TGC,c.727CGC>TGC,.,.
chr22:25150797	protein	p.243R>C,p.243R>C,.,.
chr22:25150797	worst	missense
chr22:25150797	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:25150797	nvar	1
chr22:25150797	var	chr22:25150797:G/A
chr22:25151792	allele_ref	C
chr22:25151792	allele_alt	T
chr22:25151792	seqdb_ref	C
chr22:25151792	snp_fw_seq3	ACG/ATG
chr22:25151792	snp_rv_seq3	CGT/CAT
chr22:25151792	func	silent,silent,npcRNA,npcRNA
chr22:25151792	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25151792	genomic	.,.,.,.
chr22:25151792	codon	.,.,.,.
chr22:25151792	protein	.,.,.,.
chr22:25151792	worst	silent
chr22:25151792	class	mixed,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:25151792	nvar	1
chr22:25151792	var	chr22:25151792:C/T
chr22:25151833	allele_ref	C
chr22:25151833	allele_alt	T
chr22:25151833	seqdb_ref	C
chr22:25151833	snp_fw_seq3	ACG/ATG
chr22:25151833	snp_rv_seq3	CGT/CAT
chr22:25151833	func	missense,missense,npcRNA,npcRNA
chr22:25151833	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25151833	genomic	g.610C>T,g.610C>T,.,.
chr22:25151833	codon	c.610GTG>ATG,c.610GTG>ATG,.,.
chr22:25151833	protein	p.204V>M,p.204V>M,.,.
chr22:25151833	worst	missense
chr22:25151833	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:25151833	nvar	1
chr22:25151833	var	chr22:25151833:C/T
chr22:25152511	allele_ref	G
chr22:25152511	allele_alt	A
chr22:25152511	seqdb_ref	G
chr22:25152511	snp_fw_seq3	CGC/CAC
chr22:25152511	snp_rv_seq3	GCG/GTG
chr22:25152511	func	missense,missense,npcRNA,npcRNA
chr22:25152511	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25152511	genomic	g.517G>A,g.517G>A,.,.
chr22:25152511	codon	c.517CGC>TGC,c.517CGC>TGC,.,.
chr22:25152511	protein	p.173R>C,p.173R>C,.,.
chr22:25152511	worst	missense
chr22:25152511	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:25152511	nvar	1
chr22:25152511	var	chr22:25152511:G/A
chr22:25152618	allele_ref	C
chr22:25152618	allele_alt	T
chr22:25152618	seqdb_ref	C
chr22:25152618	snp_fw_seq3	ACG/ATG
chr22:25152618	snp_rv_seq3	CGT/CAT
chr22:25152618	func	missense,missense,npcRNA,npcRNA
chr22:25152618	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25152618	genomic	g.410C>T,g.410C>T,.,.
chr22:25152618	codon	c.410CGT>CAT,c.410CGT>CAT,.,.
chr22:25152618	protein	p.137R>H,p.137R>H,.,.
chr22:25152618	worst	missense
chr22:25152618	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:25152618	nvar	1
chr22:25152618	var	chr22:25152618:C/T
chr22:25152652	allele_ref	G
chr22:25152652	allele_alt	C
chr22:25152652	seqdb_ref	G
chr22:25152652	snp_fw_seq3	TGT/TCT
chr22:25152652	snp_rv_seq3	ACA/AGA
chr22:25152652	func	missense,missense,npcRNA,npcRNA
chr22:25152652	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25152652	genomic	g.376G>C,g.376G>C,.,.
chr22:25152652	codon	c.376CAG>GAG,c.376CAG>GAG,.,.
chr22:25152652	protein	p.126Q>E,p.126Q>E,.,.
chr22:25152652	worst	missense
chr22:25152652	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:25152652	nvar	1
chr22:25152652	var	chr22:25152652:G/C
chr22:25153963	allele_ref	G
chr22:25153963	allele_alt	A
chr22:25153963	seqdb_ref	G
chr22:25153963	snp_fw_seq3	AGG/AAG
chr22:25153963	snp_rv_seq3	CCT/CTT
chr22:25153963	func	silent,silent,npcRNA,npcRNA
chr22:25153963	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25153963	genomic	.,.,.,.
chr22:25153963	codon	.,.,.,.
chr22:25153963	protein	.,.,.,.
chr22:25153963	worst	silent
chr22:25153963	class	mixed,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:25153963	nvar	1
chr22:25153963	var	chr22:25153963:G/A
chr22:25155922	allele_ref	C
chr22:25155922	allele_alt	T
chr22:25155922	seqdb_ref	C
chr22:25155922	snp_fw_seq3	CCG/CTG
chr22:25155922	snp_rv_seq3	CGG/CAG
chr22:25155922	func	missense,missense,npcRNA,npcRNA
chr22:25155922	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25155922	genomic	g.137C>T,g.137C>T,.,.
chr22:25155922	codon	c.137CGG>CAG,c.137CGG>CAG,.,.
chr22:25155922	protein	p.46R>Q,p.46R>Q,.,.
chr22:25155922	worst	missense
chr22:25155922	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:25155922	nvar	1
chr22:25155922	var	chr22:25155922:C/T
chr22:25158326	allele_ref	A
chr22:25158326	allele_alt	G
chr22:25158326	seqdb_ref	A
chr22:25158326	snp_fw_seq3	CAT/CGT
chr22:25158326	snp_rv_seq3	ATG/ACG
chr22:25158326	func	intronic,intronic,npcRNA,intronic
chr22:25158326	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25158326	genomic	.,.,.,.
chr22:25158326	codon	.,.,.,.
chr22:25158326	protein	.,.,.,.
chr22:25158326	worst	npcRNA
chr22:25158326	class	npcRNA,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:25158326	nvar	1
chr22:25158326	var	chr22:25158326:A/G
chr22:25158404	allele_ref	T
chr22:25158404	allele_alt	A
chr22:25158404	seqdb_ref	T
chr22:25158404	snp_fw_seq3	CTT/CAT
chr22:25158404	snp_rv_seq3	AAG/ATG
chr22:25158404	func	missense,missense,npcRNA,npcRNA
chr22:25158404	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25158404	genomic	g.63T>A,g.63T>A,.,.
chr22:25158404	codon	c.63CAA>CAT,c.63CAA>CAT,.,.
chr22:25158404	protein	p.21Q>H,p.21Q>H,.,.
chr22:25158404	worst	missense
chr22:25158404	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:25158404	nvar	1
chr22:25158404	var	chr22:25158404:T/A
chr22:25158438	allele_ref	C
chr22:25158438	allele_alt	T
chr22:25158438	seqdb_ref	C
chr22:25158438	snp_fw_seq3	TCG/TTG
chr22:25158438	snp_rv_seq3	CGA/CAA
chr22:25158438	func	missense,missense,npcRNA,npcRNA
chr22:25158438	transcript	NM_001008496,NM_001255975,NR_045648,NR_045649
chr22:25158438	genomic	g.29C>T,g.29C>T,.,.
chr22:25158438	codon	c.29CGA>CAA,c.29CGA>CAA,.,.
chr22:25158438	protein	p.10R>Q,p.10R>Q,.,.
chr22:25158438	worst	missense
chr22:25158438	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:25158438	nvar	1
chr22:25158438	var	chr22:25158438:C/T
chr22:25246287	allele_ref	C
chr22:25246287	allele_alt	G
chr22:25246287	seqdb_ref	C
chr22:25246287	snp_fw_seq3	GCT/GGT
chr22:25246287	snp_rv_seq3	AGC/ACC
chr22:25246287	func	missense,missense,missense,missense
chr22:25246287	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25246287	genomic	g.343C>G,g.343C>G,g.343C>G,g.343C>G
chr22:25246287	codon	c.343CTG>GTG,c.343CTG>GTG,c.343CTG>GTG,c.343CTG>GTG
chr22:25246287	protein	p.115L>V,p.115L>V,p.115L>V,p.115L>V
chr22:25246287	worst	missense
chr22:25246287	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25246287	nvar	1
chr22:25246287	var	chr22:25246287:C/G
chr22:25251504	allele_ref	A
chr22:25251504	allele_alt	C
chr22:25251504	seqdb_ref	A
chr22:25251504	snp_fw_seq3	CAC/CCC
chr22:25251504	snp_rv_seq3	GTG/GGG
chr22:25251504	func	intronic,intronic,intronic,intronic
chr22:25251504	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25251504	genomic	.,.,.,.
chr22:25251504	codon	.,.,.,.
chr22:25251504	protein	.,.,.,.
chr22:25251504	worst	intronic
chr22:25251504	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25251504	nvar	1
chr22:25251504	var	chr22:25251504:A/C
chr22:25263048	allele_ref	G
chr22:25263048	allele_alt	A
chr22:25263048	seqdb_ref	G
chr22:25263048	snp_fw_seq3	CGT/CAT
chr22:25263048	snp_rv_seq3	ACG/ATG
chr22:25263048	func	intronic,intronic,intronic,intronic
chr22:25263048	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25263048	genomic	.,.,.,.
chr22:25263048	codon	.,.,.,.
chr22:25263048	protein	.,.,.,.
chr22:25263048	worst	intronic
chr22:25263048	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25263048	nvar	1
chr22:25263048	var	chr22:25263048:G/A
chr22:25263123	allele_ref	G
chr22:25263123	allele_alt	A
chr22:25263123	seqdb_ref	G
chr22:25263123	snp_fw_seq3	AGC/AAC
chr22:25263123	snp_rv_seq3	GCT/GTT
chr22:25263123	func	silent,splice,silent,splice,silent,splice,silent,splice
chr22:25263123	annot_details	DIST=-4,NMD=0,OFPTV=1,EXIN=10,ISEQ=GTAGGG,ESEQ=AGCAAG,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS10+-4G>A,DIST=-4,NMD=0,OFPTV=1,EXIN=10,ISEQ=GTAGGG,ESEQ=AGCAAG,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS10+-4G>A,DIST=-4,NMD=0,OFPTV=1,EXIN=10,ISEQ=GTAGGG,ESEQ=AGCAAG,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS10+-4G>A,DIST=-4,NMD=0,OFPTV=1,EXIN=10,ISEQ=GTAGGG,ESEQ=AGCAAG,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS10+-4G>A
chr22:25263123	transcript	NM_001039948,NM_001039948,NM_001098497,NM_001098497,NM_001098498,NM_001098498,NM_133454,NM_133454
chr22:25263123	genomic	.,.,.,.,.,.,.,.
chr22:25263123	codon	.,.,.,.,.,.,.,.
chr22:25263123	protein	.,.,.,.,.,.,.,.
chr22:25263123	worst	splice
chr22:25263123	class	mixed,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=4,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25263123	nvar	1
chr22:25263123	var	chr22:25263123:G/A
chr22:25264776	allele_ref	G
chr22:25264776	allele_alt	A
chr22:25264776	seqdb_ref	G
chr22:25264776	snp_fw_seq3	CGG/CAG
chr22:25264776	snp_rv_seq3	CCG/CTG
chr22:25264776	func	silent,silent,silent,silent
chr22:25264776	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25264776	genomic	.,.,.,.
chr22:25264776	codon	.,.,.,.
chr22:25264776	protein	.,.,.,.
chr22:25264776	worst	silent
chr22:25264776	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25264776	nvar	1
chr22:25264776	var	chr22:25264776:G/A
chr22:25270390	allele_ref	G
chr22:25270390	allele_alt	A
chr22:25270390	seqdb_ref	G
chr22:25270390	snp_fw_seq3	CGA/CAA
chr22:25270390	snp_rv_seq3	TCG/TTG
chr22:25270390	func	missense,intronic,intronic,missense
chr22:25270390	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25270390	genomic	g.1300G>A,.,.,g.1300G>A
chr22:25270390	codon	c.1300GAC>AAC,.,.,c.1300GAC>AAC
chr22:25270390	protein	p.434D>N,.,.,p.434D>N
chr22:25270390	worst	missense
chr22:25270390	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25270390	nvar	1
chr22:25270390	var	chr22:25270390:G/A
chr22:25270441	allele_ref	G
chr22:25270441	allele_alt	C
chr22:25270441	seqdb_ref	G
chr22:25270441	snp_fw_seq3	GGT/GCT
chr22:25270441	snp_rv_seq3	ACC/AGC
chr22:25270441	func	missense,intronic,intronic,missense
chr22:25270441	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25270441	genomic	g.1351G>C,.,.,g.1351G>C
chr22:25270441	codon	c.1351GTT>CTT,.,.,c.1351GTT>CTT
chr22:25270441	protein	p.451V>L,.,.,p.451V>L
chr22:25270441	worst	missense
chr22:25270441	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25270441	nvar	1
chr22:25270441	var	chr22:25270441:G/C
chr22:25270455	allele_ref	G
chr22:25270455	allele_alt	C
chr22:25270455	seqdb_ref	G
chr22:25270455	snp_fw_seq3	GGT/GCT
chr22:25270455	snp_rv_seq3	ACC/AGC
chr22:25270455	func	silent,intronic,intronic,silent
chr22:25270455	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25270455	genomic	.,.,.,.
chr22:25270455	codon	.,.,.,.
chr22:25270455	protein	.,.,.,.
chr22:25270455	worst	silent
chr22:25270455	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25270455	nvar	1
chr22:25270455	var	chr22:25270455:G/C
chr22:25270520	allele_ref	C
chr22:25270520	allele_alt	T
chr22:25270520	seqdb_ref	C
chr22:25270520	snp_fw_seq3	ACG/ATG
chr22:25270520	snp_rv_seq3	CGT/CAT
chr22:25270520	func	missense,intronic,intronic,missense
chr22:25270520	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25270520	genomic	g.1430C>T,.,.,g.1430C>T
chr22:25270520	codon	c.1430ACG>ATG,.,.,c.1430ACG>ATG
chr22:25270520	protein	p.477T>M,.,.,p.477T>M
chr22:25270520	worst	missense
chr22:25270520	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25270520	nvar	1
chr22:25270520	var	chr22:25270520:C/T
chr22:25270567	allele_ref	G
chr22:25270567	allele_alt	T
chr22:25270567	seqdb_ref	G
chr22:25270567	snp_fw_seq3	CGT/CTT
chr22:25270567	snp_rv_seq3	ACG/AAG
chr22:25270567	func	intronic,intronic,intronic,intronic
chr22:25270567	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25270567	genomic	.,.,.,.
chr22:25270567	codon	.,.,.,.
chr22:25270567	protein	.,.,.,.
chr22:25270567	worst	intronic
chr22:25270567	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25270567	nvar	1
chr22:25270567	var	chr22:25270567:G/T
chr22:25275393	allele_ref	T
chr22:25275393	allele_alt	C
chr22:25275393	seqdb_ref	T
chr22:25275393	snp_fw_seq3	ATC/ACC
chr22:25275393	snp_rv_seq3	GAT/GGT
chr22:25275393	func	intronic,intronic,intronic,intronic
chr22:25275393	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25275393	genomic	.,.,.,.
chr22:25275393	codon	.,.,.,.
chr22:25275393	protein	.,.,.,.
chr22:25275393	worst	intronic
chr22:25275393	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25275393	nvar	1
chr22:25275393	var	chr22:25275393:T/C
chr22:25275523	allele_ref	C
chr22:25275523	allele_alt	A
chr22:25275523	seqdb_ref	C
chr22:25275523	snp_fw_seq3	TCT/TAT
chr22:25275523	snp_rv_seq3	AGA/ATA
chr22:25275523	func	intronic,intronic,intronic,intronic
chr22:25275523	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25275523	genomic	.,.,.,.
chr22:25275523	codon	.,.,.,.
chr22:25275523	protein	.,.,.,.
chr22:25275523	worst	intronic
chr22:25275523	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25275523	nvar	1
chr22:25275523	var	chr22:25275523:C/A
chr22:25280022	allele_ref	C
chr22:25280022	allele_alt	T
chr22:25280022	seqdb_ref	C
chr22:25280022	snp_fw_seq3	GCT/GTT
chr22:25280022	snp_rv_seq3	AGC/AAC
chr22:25280022	func	silent,splice,silent,splice,silent,splice,silent,splice
chr22:25280022	annot_details	DIST=2,NMD=0,OFPTV=0,EXIN=16,ISEQ=CAACAG,ESEQ=GGCTGG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS16+2C>T,DIST=2,NMD=0,OFPTV=0,EXIN=15,ISEQ=CAACAG,ESEQ=GGCTGG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS15+2C>T,DIST=2,NMD=0,OFPTV=0,EXIN=15,ISEQ=CAACAG,ESEQ=GGCTGG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS15+2C>T,DIST=2,NMD=0,OFPTV=0,EXIN=16,ISEQ=CAACAG,ESEQ=GGCTGG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS16+2C>T
chr22:25280022	transcript	NM_001039948,NM_001039948,NM_001098497,NM_001098497,NM_001098498,NM_001098498,NM_133454,NM_133454
chr22:25280022	genomic	.,.,.,.,.,.,.,.
chr22:25280022	codon	.,.,.,.,.,.,.,.
chr22:25280022	protein	.,.,.,.,.,.,.,.
chr22:25280022	worst	splice
chr22:25280022	class	mixed,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=4,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25280022	nvar	1
chr22:25280022	var	chr22:25280022:C/T
chr22:25280048	allele_ref	C
chr22:25280048	allele_alt	T
chr22:25280048	seqdb_ref	C
chr22:25280048	snp_fw_seq3	CCG/CTG
chr22:25280048	snp_rv_seq3	CGG/CAG
chr22:25280048	func	silent,silent,silent,silent
chr22:25280048	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25280048	genomic	.,.,.,.
chr22:25280048	codon	.,.,.,.
chr22:25280048	protein	.,.,.,.
chr22:25280048	worst	silent
chr22:25280048	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25280048	nvar	1
chr22:25280048	var	chr22:25280048:C/T
chr22:25280181	allele_ref	G
chr22:25280181	allele_alt	A
chr22:25280181	seqdb_ref	G
chr22:25280181	snp_fw_seq3	GGC/GAC
chr22:25280181	snp_rv_seq3	GCC/GTC
chr22:25280181	func	intronic,intronic,intronic,intronic
chr22:25280181	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25280181	genomic	.,.,.,.
chr22:25280181	codon	.,.,.,.
chr22:25280181	protein	.,.,.,.
chr22:25280181	worst	intronic
chr22:25280181	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25280181	nvar	1
chr22:25280181	var	chr22:25280181:G/A
chr22:25280189	allele_ref	T
chr22:25280189	allele_alt	G
chr22:25280189	seqdb_ref	T
chr22:25280189	snp_fw_seq3	CTG/CGG
chr22:25280189	snp_rv_seq3	CAG/CCG
chr22:25280189	func	intronic,intronic,intronic,intronic
chr22:25280189	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25280189	genomic	.,.,.,.
chr22:25280189	codon	.,.,.,.
chr22:25280189	protein	.,.,.,.
chr22:25280189	worst	intronic
chr22:25280189	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25280189	nvar	1
chr22:25280189	var	chr22:25280189:T/G
chr22:25282605	allele_ref	C
chr22:25282605	allele_alt	T
chr22:25282605	seqdb_ref	C
chr22:25282605	snp_fw_seq3	ACG/ATG
chr22:25282605	snp_rv_seq3	CGT/CAT
chr22:25282605	func	silent,silent,silent,silent
chr22:25282605	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25282605	genomic	.,.,.,.
chr22:25282605	codon	.,.,.,.
chr22:25282605	protein	.,.,.,.
chr22:25282605	worst	silent
chr22:25282605	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25282605	nvar	1
chr22:25282605	var	chr22:25282605:C/T
chr22:25282711	allele_ref	T
chr22:25282711	allele_alt	C
chr22:25282711	seqdb_ref	T
chr22:25282711	snp_fw_seq3	ATG/ACG
chr22:25282711	snp_rv_seq3	CAT/CGT
chr22:25282711	func	intronic,intronic,intronic,intronic
chr22:25282711	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25282711	genomic	.,.,.,.
chr22:25282711	codon	.,.,.,.
chr22:25282711	protein	.,.,.,.
chr22:25282711	worst	intronic
chr22:25282711	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25282711	nvar	1
chr22:25282711	var	chr22:25282711:T/C
chr22:25289356	allele_ref	C
chr22:25289356	allele_alt	T
chr22:25289356	seqdb_ref	C
chr22:25289356	snp_fw_seq3	CCC/CTC
chr22:25289356	snp_rv_seq3	GGG/GAG
chr22:25289356	func	intronic,intronic,intronic,intronic
chr22:25289356	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25289356	genomic	.,.,.,.
chr22:25289356	codon	.,.,.,.
chr22:25289356	protein	.,.,.,.
chr22:25289356	worst	intronic
chr22:25289356	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25289356	nvar	1
chr22:25289356	var	chr22:25289356:C/T
chr22:25289448	allele_ref	G
chr22:25289448	allele_alt	A
chr22:25289448	seqdb_ref	G
chr22:25289448	snp_fw_seq3	TGG/TAG
chr22:25289448	snp_rv_seq3	CCA/CTA
chr22:25289448	func	silent,silent,intronic,intronic
chr22:25289448	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25289448	genomic	.,.,.,.
chr22:25289448	codon	.,.,.,.
chr22:25289448	protein	.,.,.,.
chr22:25289448	worst	silent
chr22:25289448	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25289448	nvar	1
chr22:25289448	var	chr22:25289448:G/A
chr22:25294155	allele_ref	A
chr22:25294155	allele_alt	C
chr22:25294155	seqdb_ref	A
chr22:25294155	snp_fw_seq3	CAC/CCC
chr22:25294155	snp_rv_seq3	GTG/GGG
chr22:25294155	func	missense,missense,missense,missense
chr22:25294155	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25294155	genomic	g.2404A>C,g.2239A>C,g.2056A>C,g.2221A>C
chr22:25294155	codon	c.2404ACG>CCG,c.2239ACG>CCG,c.2056ACG>CCG,c.2221ACG>CCG
chr22:25294155	protein	p.802T>P,p.747T>P,p.686T>P,p.741T>P
chr22:25294155	worst	missense
chr22:25294155	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25294155	nvar	1
chr22:25294155	var	chr22:25294155:A/C
chr22:25294346	allele_ref	C
chr22:25294346	allele_alt	T
chr22:25294346	seqdb_ref	C
chr22:25294346	snp_fw_seq3	ACG/ATG
chr22:25294346	snp_rv_seq3	CGT/CAT
chr22:25294346	func	silent,silent,silent,silent
chr22:25294346	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25294346	genomic	.,.,.,.
chr22:25294346	codon	.,.,.,.
chr22:25294346	protein	.,.,.,.
chr22:25294346	worst	silent
chr22:25294346	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25294346	nvar	1
chr22:25294346	var	chr22:25294346:C/T
chr22:25294369	allele_ref	G
chr22:25294369	allele_alt	A
chr22:25294369	seqdb_ref	G
chr22:25294369	snp_fw_seq3	AGG/AAG
chr22:25294369	snp_rv_seq3	CCT/CTT
chr22:25294369	func	missense,missense,missense,missense
chr22:25294369	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25294369	genomic	g.2618G>A,g.2453G>A,g.2270G>A,g.2435G>A
chr22:25294369	codon	c.2618AGG>AAG,c.2453AGG>AAG,c.2270AGG>AAG,c.2435AGG>AAG
chr22:25294369	protein	p.873R>K,p.818R>K,p.757R>K,p.812R>K
chr22:25294369	worst	missense
chr22:25294369	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25294369	nvar	1
chr22:25294369	var	chr22:25294369:G/A
chr22:25294376	allele_ref	C
chr22:25294376	allele_alt	T
chr22:25294376	seqdb_ref	C
chr22:25294376	snp_fw_seq3	GCG/GTG
chr22:25294376	snp_rv_seq3	CGC/CAC
chr22:25294376	func	silent,silent,silent,silent
chr22:25294376	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25294376	genomic	.,.,.,.
chr22:25294376	codon	.,.,.,.
chr22:25294376	protein	.,.,.,.
chr22:25294376	worst	silent
chr22:25294376	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25294376	nvar	1
chr22:25294376	var	chr22:25294376:C/T
chr22:25297755	allele_ref	G
chr22:25297755	allele_alt	A
chr22:25297755	seqdb_ref	G
chr22:25297755	snp_fw_seq3	TGA/TAA
chr22:25297755	snp_rv_seq3	TCA/TTA
chr22:25297755	func	intronic,intronic,intronic,intronic
chr22:25297755	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25297755	genomic	.,.,.,.
chr22:25297755	codon	.,.,.,.
chr22:25297755	protein	.,.,.,.
chr22:25297755	worst	intronic
chr22:25297755	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25297755	nvar	1
chr22:25297755	var	chr22:25297755:G/A
chr22:25297771	allele_ref	C
chr22:25297771	allele_alt	A
chr22:25297771	seqdb_ref	C
chr22:25297771	snp_fw_seq3	CCC/CAC
chr22:25297771	snp_rv_seq3	GGG/GTG
chr22:25297771	func	intronic,intronic,intronic,intronic
chr22:25297771	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25297771	genomic	.,.,.,.
chr22:25297771	codon	.,.,.,.
chr22:25297771	protein	.,.,.,.
chr22:25297771	worst	intronic
chr22:25297771	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25297771	nvar	1
chr22:25297771	var	chr22:25297771:C/A
chr22:25297965	allele_ref	T
chr22:25297965	allele_alt	C
chr22:25297965	seqdb_ref	T
chr22:25297965	snp_fw_seq3	GTG/GCG
chr22:25297965	snp_rv_seq3	CAC/CGC
chr22:25297965	func	intronic,intronic,intronic,intronic
chr22:25297965	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25297965	genomic	.,.,.,.
chr22:25297965	codon	.,.,.,.
chr22:25297965	protein	.,.,.,.
chr22:25297965	worst	intronic
chr22:25297965	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25297965	nvar	1
chr22:25297965	var	chr22:25297965:T/C
chr22:25301038	allele_ref	G
chr22:25301038	allele_alt	A
chr22:25301038	seqdb_ref	G
chr22:25301038	snp_fw_seq3	CGG/CAG
chr22:25301038	snp_rv_seq3	CCG/CTG
chr22:25301038	func	intronic,intronic,intronic,intronic
chr22:25301038	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25301038	genomic	.,.,.,.
chr22:25301038	codon	.,.,.,.
chr22:25301038	protein	.,.,.,.
chr22:25301038	worst	intronic
chr22:25301038	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25301038	nvar	1
chr22:25301038	var	chr22:25301038:G/A
chr22:25315753	allele_ref	G
chr22:25315753	allele_alt	A
chr22:25315753	seqdb_ref	G
chr22:25315753	snp_fw_seq3	CGT/CAT
chr22:25315753	snp_rv_seq3	ACG/ATG
chr22:25315753	func	intronic,intronic,intronic,intronic
chr22:25315753	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25315753	genomic	.,.,.,.
chr22:25315753	codon	.,.,.,.
chr22:25315753	protein	.,.,.,.
chr22:25315753	worst	intronic
chr22:25315753	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25315753	nvar	1
chr22:25315753	var	chr22:25315753:G/A
chr22:25320256	allele_ref	C
chr22:25320256	allele_alt	T
chr22:25320256	seqdb_ref	C
chr22:25320256	snp_fw_seq3	CCG/CTG
chr22:25320256	snp_rv_seq3	CGG/CAG
chr22:25320256	func	3-UTR,3-UTR,3-UTR,3-UTR
chr22:25320256	transcript	NM_001039948,NM_001098497,NM_001098498,NM_133454
chr22:25320256	genomic	.,.,.,.
chr22:25320256	codon	.,.,.,.
chr22:25320256	protein	.,.,.,.
chr22:25320256	worst	UTR3
chr22:25320256	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=4,npcRNA=0
chr22:25320256	nvar	1
chr22:25320256	var	chr22:25320256:C/T
chr22:25331451	allele_ref	C
chr22:25331451	allele_alt	T
chr22:25331451	seqdb_ref	C
chr22:25331451	snp_fw_seq3	ACC/ATC
chr22:25331451	snp_rv_seq3	GGT/GAT
chr22:25331451	func	missense
chr22:25331451	transcript	NM_001001663
chr22:25331451	genomic	g.239C>T
chr22:25331451	codon	c.239GGT>GAT
chr22:25331451	protein	p.80G>D
chr22:25331451	worst	missense
chr22:25331451	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25331451	nvar	1
chr22:25331451	var	chr22:25331451:C/T
chr22:25334184	allele_ref	G
chr22:25334184	allele_alt	T
chr22:25334184	seqdb_ref	G
chr22:25334184	snp_fw_seq3	AGC/ATC
chr22:25334184	snp_rv_seq3	GCT/GAT
chr22:25334184	func	missense
chr22:25334184	transcript	NM_001001663
chr22:25334184	genomic	g.59G>T
chr22:25334184	codon	c.59GCT>GAT
chr22:25334184	protein	p.20A>D
chr22:25334184	worst	missense
chr22:25334184	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25334184	nvar	1
chr22:25334184	var	chr22:25334184:G/T
chr22:25334292	allele_ref	C
chr22:25334292	allele_alt	G
chr22:25334292	seqdb_ref	C
chr22:25334292	snp_fw_seq3	GCC/GGC
chr22:25334292	snp_rv_seq3	GGC/GCC
chr22:25334292	func	intronic
chr22:25334292	transcript	NM_001001663
chr22:25334292	genomic	.
chr22:25334292	codon	.
chr22:25334292	protein	.
chr22:25334292	worst	intronic
chr22:25334292	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25334292	nvar	1
chr22:25334292	var	chr22:25334292:C/G
chr22:25597331	allele_ref	T
chr22:25597331	allele_alt	C
chr22:25597331	seqdb_ref	T
chr22:25597331	snp_fw_seq3	CTT/CCT
chr22:25597331	snp_rv_seq3	AAG/AGG
chr22:25597331	func	intronic
chr22:25597331	transcript	NM_004076
chr22:25597331	genomic	.
chr22:25597331	codon	.
chr22:25597331	protein	.
chr22:25597331	worst	intronic
chr22:25597331	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25597331	nvar	1
chr22:25597331	var	chr22:25597331:T/C
chr22:25597369	allele_ref	G
chr22:25597369	allele_alt	A
chr22:25597369	seqdb_ref	G
chr22:25597369	snp_fw_seq3	CGG/CAG
chr22:25597369	snp_rv_seq3	CCG/CTG
chr22:25597369	func	silent
chr22:25597369	transcript	NM_004076
chr22:25597369	genomic	.
chr22:25597369	codon	.
chr22:25597369	protein	.
chr22:25597369	worst	silent
chr22:25597369	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25597369	nvar	1
chr22:25597369	var	chr22:25597369:G/A
chr22:25597384	allele_ref	A
chr22:25597384	allele_alt	G
chr22:25597384	seqdb_ref	A
chr22:25597384	snp_fw_seq3	CAC/CGC
chr22:25597384	snp_rv_seq3	GTG/GCG
chr22:25597384	func	silent
chr22:25597384	transcript	NM_004076
chr22:25597384	genomic	.
chr22:25597384	codon	.
chr22:25597384	protein	.
chr22:25597384	worst	silent
chr22:25597384	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25597384	nvar	1
chr22:25597384	var	chr22:25597384:A/G
chr22:25598661	allele_ref	G
chr22:25598661	allele_alt	T
chr22:25598661	seqdb_ref	G
chr22:25598661	snp_fw_seq3	AGA/ATA
chr22:25598661	snp_rv_seq3	TCT/TAT
chr22:25598661	func	missense
chr22:25598661	transcript	NM_004076
chr22:25598661	genomic	g.96G>T
chr22:25598661	codon	c.96GAG>GAT
chr22:25598661	protein	p.32E>D
chr22:25598661	worst	missense
chr22:25598661	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25598661	nvar	1
chr22:25598661	var	chr22:25598661:G/T
chr22:25598664	allele_ref	C
chr22:25598664	allele_alt	T
chr22:25598664	seqdb_ref	C
chr22:25598664	snp_fw_seq3	ACT/ATT
chr22:25598664	snp_rv_seq3	AGT/AAT
chr22:25598664	func	silent
chr22:25598664	transcript	NM_004076
chr22:25598664	genomic	.
chr22:25598664	codon	.
chr22:25598664	protein	.
chr22:25598664	worst	silent
chr22:25598664	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25598664	nvar	1
chr22:25598664	var	chr22:25598664:C/T
chr22:25599849	allele_ref	G
chr22:25599849	allele_alt	A
chr22:25599849	seqdb_ref	G
chr22:25599849	snp_fw_seq3	CGG/CAG
chr22:25599849	snp_rv_seq3	CCG/CTG
chr22:25599849	func	missense
chr22:25599849	transcript	NM_004076
chr22:25599849	genomic	g.314G>A
chr22:25599849	codon	c.314CGG>CAG
chr22:25599849	protein	p.105R>Q
chr22:25599849	worst	missense
chr22:25599849	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25599849	nvar	1
chr22:25599849	var	chr22:25599849:G/A
chr22:25601196	allele_ref	C
chr22:25601196	allele_alt	G
chr22:25601196	seqdb_ref	C
chr22:25601196	snp_fw_seq3	ACA/AGA
chr22:25601196	snp_rv_seq3	TGT/TCT
chr22:25601196	func	missense
chr22:25601196	transcript	NM_004076
chr22:25601196	genomic	g.337C>G
chr22:25601196	codon	c.337CAT>GAT
chr22:25601196	protein	p.113H>D
chr22:25601196	worst	missense
chr22:25601196	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25601196	nvar	1
chr22:25601196	var	chr22:25601196:C/G
chr22:25603018	allele_ref	G
chr22:25603018	allele_alt	A
chr22:25603018	seqdb_ref	G
chr22:25603018	snp_fw_seq3	GGT/GAT
chr22:25603018	snp_rv_seq3	ACC/ATC
chr22:25603018	func	splice,missense
chr22:25603018	annot_details	DIST=4,NMD=0,OFPTV=0,EXIN=6,ISEQ=CGGCAG,ESEQ=GTGGGT,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS6+4G>A
chr22:25603018	transcript	NM_004076,NM_004076
chr22:25603018	genomic	.,g.475G>A
chr22:25603018	codon	.,c.475GTT>ATT
chr22:25603018	protein	.,p.159V>I
chr22:25603018	worst	missense
chr22:25603018	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25603018	nvar	1
chr22:25603018	var	chr22:25603018:G/A
chr22:25603127	allele_ref	G
chr22:25603127	allele_alt	A
chr22:25603127	seqdb_ref	G
chr22:25603127	snp_fw_seq3	CGC/CAC
chr22:25603127	snp_rv_seq3	GCG/GTG
chr22:25603127	func	missense
chr22:25603127	transcript	NM_004076
chr22:25603127	genomic	g.584G>A
chr22:25603127	codon	c.584CGC>CAC
chr22:25603127	protein	p.195R>H
chr22:25603127	worst	missense
chr22:25603127	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25603127	nvar	1
chr22:25603127	var	chr22:25603127:G/A
chr22:25623839	allele_ref	G
chr22:25623839	allele_alt	T
chr22:25623839	seqdb_ref	G
chr22:25623839	snp_fw_seq3	GGC/GTC
chr22:25623839	snp_rv_seq3	GCC/GAC
chr22:25623839	func	missense
chr22:25623839	transcript	NM_000496
chr22:25623839	genomic	g.193G>T
chr22:25623839	codon	c.193GCC>TCC
chr22:25623839	protein	p.65A>S
chr22:25623839	worst	missense
chr22:25623839	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25623839	nvar	1
chr22:25623839	var	chr22:25623839:G/T
chr22:25625554	allele_ref	G
chr22:25625554	allele_alt	A
chr22:25625554	seqdb_ref	G
chr22:25625554	snp_fw_seq3	CGT/CAT
chr22:25625554	snp_rv_seq3	ACG/ATG
chr22:25625554	func	intronic
chr22:25625554	transcript	NM_000496
chr22:25625554	genomic	.
chr22:25625554	codon	.
chr22:25625554	protein	.
chr22:25625554	worst	intronic
chr22:25625554	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25625554	nvar	1
chr22:25625554	var	chr22:25625554:G/A
chr22:25627604	allele_ref	G
chr22:25627604	allele_alt	A
chr22:25627604	seqdb_ref	G
chr22:25627604	snp_fw_seq3	GGC/GAC
chr22:25627604	snp_rv_seq3	GCC/GTC
chr22:25627604	func	silent
chr22:25627604	transcript	NM_000496
chr22:25627604	genomic	.
chr22:25627604	codon	.
chr22:25627604	protein	.
chr22:25627604	worst	silent
chr22:25627604	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25627604	nvar	1
chr22:25627604	var	chr22:25627604:G/A
chr22:25747716	allele_ref	A
chr22:25747716	allele_alt	G
chr22:25747716	seqdb_ref	A
chr22:25747716	snp_fw_seq3	TAC/TGC
chr22:25747716	snp_rv_seq3	GTA/GCA
chr22:25747716	func	3-UTR,3-UTR
chr22:25747716	transcript	NM_001135772,NM_182492
chr22:25747716	genomic	.,.
chr22:25747716	codon	.,.
chr22:25747716	protein	.,.
chr22:25747716	worst	UTR3
chr22:25747716	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:25747716	nvar	1
chr22:25747716	var	chr22:25747716:A/G
chr22:25747801	allele_ref	C
chr22:25747801	allele_alt	T
chr22:25747801	seqdb_ref	C
chr22:25747801	snp_fw_seq3	CCG/CTG
chr22:25747801	snp_rv_seq3	CGG/CAG
chr22:25747801	func	missense,missense
chr22:25747801	transcript	NM_001135772,NM_182492
chr22:25747801	genomic	g.724C>T,g.724C>T
chr22:25747801	codon	c.724GGT>AGT,c.724GGT>AGT
chr22:25747801	protein	p.242G>S,p.242G>S
chr22:25747801	worst	missense
chr22:25747801	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25747801	nvar	1
chr22:25747801	var	chr22:25747801:C/T
chr22:25747853	allele_ref	C
chr22:25747853	allele_alt	T
chr22:25747853	seqdb_ref	C
chr22:25747853	snp_fw_seq3	CCG/CTG
chr22:25747853	snp_rv_seq3	CGG/CAG
chr22:25747853	func	silent,silent
chr22:25747853	transcript	NM_001135772,NM_182492
chr22:25747853	genomic	.,.
chr22:25747853	codon	.,.
chr22:25747853	protein	.,.
chr22:25747853	worst	silent
chr22:25747853	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25747853	nvar	1
chr22:25747853	var	chr22:25747853:C/T
chr22:25750534	allele_ref	C
chr22:25750534	allele_alt	T
chr22:25750534	seqdb_ref	C
chr22:25750534	snp_fw_seq3	ACG/ATG
chr22:25750534	snp_rv_seq3	CGT/CAT
chr22:25750534	func	intronic,intronic
chr22:25750534	transcript	NM_001135772,NM_182492
chr22:25750534	genomic	.,.
chr22:25750534	codon	.,.
chr22:25750534	protein	.,.
chr22:25750534	worst	intronic
chr22:25750534	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25750534	nvar	1
chr22:25750534	var	chr22:25750534:C/T
chr22:25750783	allele_ref	C
chr22:25750783	allele_alt	G
chr22:25750783	seqdb_ref	C
chr22:25750783	snp_fw_seq3	GCA/GGA
chr22:25750783	snp_rv_seq3	TGC/TCC
chr22:25750783	func	intronic,splice,intronic,splice
chr22:25750783	annot_details	DIST=4,NMD=0,OFPTV=1,EXIN=5,ISEQ=GACGTC,ESEQ=CTAGCG,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS5+4G>C,DIST=4,NMD=0,OFPTV=1,EXIN=3,ISEQ=GACGTC,ESEQ=CTAGCG,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS3+4G>C
chr22:25750783	transcript	NM_001135772,NM_001135772,NM_182492,NM_182492
chr22:25750783	genomic	.,.,.,.
chr22:25750783	codon	.,.,.,.
chr22:25750783	protein	.,.,.,.
chr22:25750783	worst	splice
chr22:25750783	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25750783	nvar	1
chr22:25750783	var	chr22:25750783:C/G
chr22:25753231	allele_ref	G
chr22:25753231	allele_alt	A
chr22:25753231	seqdb_ref	G
chr22:25753231	snp_fw_seq3	TGT/TAT
chr22:25753231	snp_rv_seq3	ACA/ATA
chr22:25753231	func	silent,silent
chr22:25753231	transcript	NM_001135772,NM_182492
chr22:25753231	genomic	.,.
chr22:25753231	codon	.,.
chr22:25753231	protein	.,.
chr22:25753231	worst	silent
chr22:25753231	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25753231	nvar	1
chr22:25753231	var	chr22:25753231:G/A
chr22:25753321	allele_ref	G
chr22:25753321	allele_alt	A
chr22:25753321	seqdb_ref	G
chr22:25753321	snp_fw_seq3	CGC/CAC
chr22:25753321	snp_rv_seq3	GCG/GTG
chr22:25753321	func	silent,silent
chr22:25753321	transcript	NM_001135772,NM_182492
chr22:25753321	genomic	.,.
chr22:25753321	codon	.,.
chr22:25753321	protein	.,.
chr22:25753321	worst	silent
chr22:25753321	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25753321	nvar	1
chr22:25753321	var	chr22:25753321:G/A
chr22:25753387	allele_ref	C
chr22:25753387	allele_alt	T
chr22:25753387	seqdb_ref	C
chr22:25753387	snp_fw_seq3	ACG/ATG
chr22:25753387	snp_rv_seq3	CGT/CAT
chr22:25753387	func	silent,silent
chr22:25753387	transcript	NM_001135772,NM_182492
chr22:25753387	genomic	.,.
chr22:25753387	codon	.,.
chr22:25753387	protein	.,.
chr22:25753387	worst	silent
chr22:25753387	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25753387	nvar	1
chr22:25753387	var	chr22:25753387:C/T
chr22:25755765	allele_ref	G
chr22:25755765	allele_alt	A
chr22:25755765	seqdb_ref	G
chr22:25755765	snp_fw_seq3	GGC/GAC
chr22:25755765	snp_rv_seq3	GCC/GTC
chr22:25755765	func	intronic,intronic
chr22:25755765	transcript	NM_001135772,NM_182492
chr22:25755765	genomic	.,.
chr22:25755765	codon	.,.
chr22:25755765	protein	.,.
chr22:25755765	worst	intronic
chr22:25755765	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25755765	nvar	1
chr22:25755765	var	chr22:25755765:G/A
chr22:25755787	allele_ref	G
chr22:25755787	allele_alt	A
chr22:25755787	seqdb_ref	G
chr22:25755787	snp_fw_seq3	CGT/CAT
chr22:25755787	snp_rv_seq3	ACG/ATG
chr22:25755787	func	intronic,intronic
chr22:25755787	transcript	NM_001135772,NM_182492
chr22:25755787	genomic	.,.
chr22:25755787	codon	.,.
chr22:25755787	protein	.,.
chr22:25755787	worst	intronic
chr22:25755787	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25755787	nvar	1
chr22:25755787	var	chr22:25755787:G/A
chr22:25755880	allele_ref	C
chr22:25755880	allele_alt	T
chr22:25755880	seqdb_ref	C
chr22:25755880	snp_fw_seq3	TCA/TTA
chr22:25755880	snp_rv_seq3	TGA/TAA
chr22:25755880	func	silent,silent
chr22:25755880	transcript	NM_001135772,NM_182492
chr22:25755880	genomic	.,.
chr22:25755880	codon	.,.
chr22:25755880	protein	.,.
chr22:25755880	worst	silent
chr22:25755880	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25755880	nvar	1
chr22:25755880	var	chr22:25755880:C/T
chr22:25755885	allele_ref	C
chr22:25755885	allele_alt	T
chr22:25755885	seqdb_ref	C
chr22:25755885	snp_fw_seq3	TCG/TTG
chr22:25755885	snp_rv_seq3	CGA/CAA
chr22:25755885	func	missense,missense
chr22:25755885	transcript	NM_001135772,NM_182492
chr22:25755885	genomic	g.175C>T,g.175C>T
chr22:25755885	codon	c.175GAG>AAG,c.175GAG>AAG
chr22:25755885	protein	p.59E>K,p.59E>K
chr22:25755885	worst	missense
chr22:25755885	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25755885	nvar	1
chr22:25755885	var	chr22:25755885:C/T
chr22:25755987	allele_ref	C
chr22:25755987	allele_alt	T
chr22:25755987	seqdb_ref	C
chr22:25755987	snp_fw_seq3	GCC/GTC
chr22:25755987	snp_rv_seq3	GGC/GAC
chr22:25755987	func	missense,missense
chr22:25755987	transcript	NM_001135772,NM_182492
chr22:25755987	genomic	g.73C>T,g.73C>T
chr22:25755987	codon	c.73GCG>ACG,c.73GCG>ACG
chr22:25755987	protein	p.25A>T,p.25A>T
chr22:25755987	worst	missense
chr22:25755987	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:25755987	nvar	1
chr22:25755987	var	chr22:25755987:C/T
chr22:26083642	allele_ref	C
chr22:26083642	allele_alt	T
chr22:26083642	seqdb_ref	C
chr22:26083642	snp_fw_seq3	ACG/ATG
chr22:26083642	snp_rv_seq3	CGT/CAT
chr22:26083642	func	intronic
chr22:26083642	transcript	NM_005160
chr22:26083642	genomic	.
chr22:26083642	codon	.
chr22:26083642	protein	.
chr22:26083642	worst	intronic
chr22:26083642	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26083642	nvar	1
chr22:26083642	var	chr22:26083642:C/T
chr22:26099429	allele_ref	A
chr22:26099429	allele_alt	G
chr22:26099429	seqdb_ref	A
chr22:26099429	snp_fw_seq3	TAT/TGT
chr22:26099429	snp_rv_seq3	ATA/ACA
chr22:26099429	func	intronic
chr22:26099429	transcript	NM_005160
chr22:26099429	genomic	.
chr22:26099429	codon	.
chr22:26099429	protein	.
chr22:26099429	worst	intronic
chr22:26099429	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26099429	nvar	1
chr22:26099429	var	chr22:26099429:A/G
chr22:26099498	allele_ref	T
chr22:26099498	allele_alt	C
chr22:26099498	seqdb_ref	T
chr22:26099498	snp_fw_seq3	ATA/ACA
chr22:26099498	snp_rv_seq3	TAT/TGT
chr22:26099498	func	silent
chr22:26099498	transcript	NM_005160
chr22:26099498	genomic	.
chr22:26099498	codon	.
chr22:26099498	protein	.
chr22:26099498	worst	silent
chr22:26099498	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26099498	nvar	1
chr22:26099498	var	chr22:26099498:T/C
chr22:26688388	allele_ref	A
chr22:26688388	allele_alt	C
chr22:26688388	seqdb_ref	A
chr22:26688388	snp_fw_seq3	GAG/GCG
chr22:26688388	snp_rv_seq3	CTC/CGC
chr22:26688388	func	silent,silent,silent,silent,silent,silent
chr22:26688388	transcript	NM_001184773,NM_001184774,NM_001184775,NM_001184776,NM_001184777,NM_021115
chr22:26688388	genomic	.,.,.,.,.,.
chr22:26688388	codon	.,.,.,.,.,.
chr22:26688388	protein	.,.,.,.,.,.
chr22:26688388	worst	silent
chr22:26688388	class	silent,NON=0,SL=0,MIS=0,SYN=6,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26688388	nvar	1
chr22:26688388	var	chr22:26688388:A/C
chr22:26688401	allele_ref	T
chr22:26688401	allele_alt	C
chr22:26688401	seqdb_ref	T
chr22:26688401	snp_fw_seq3	TTT/TCT
chr22:26688401	snp_rv_seq3	AAA/AGA
chr22:26688401	func	silent,silent,silent,silent,silent,silent
chr22:26688401	transcript	NM_001184773,NM_001184774,NM_001184775,NM_001184776,NM_001184777,NM_021115
chr22:26688401	genomic	.,.,.,.,.,.
chr22:26688401	codon	.,.,.,.,.,.
chr22:26688401	protein	.,.,.,.,.,.
chr22:26688401	worst	silent
chr22:26688401	class	silent,NON=0,SL=0,MIS=0,SYN=6,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26688401	nvar	1
chr22:26688401	var	chr22:26688401:T/C
chr22:26688831	allele_ref	G
chr22:26688831	allele_alt	T
chr22:26688831	seqdb_ref	G
chr22:26688831	snp_fw_seq3	TGG/TTG
chr22:26688831	snp_rv_seq3	CCA/CAA
chr22:26688831	func	missense,missense,missense,missense,missense,missense
chr22:26688831	transcript	NM_001184773,NM_001184774,NM_001184775,NM_001184776,NM_001184777,NM_021115
chr22:26688831	genomic	g.554G>T,g.554G>T,g.554G>T,g.554G>T,g.554G>T,g.554G>T
chr22:26688831	codon	c.554TGG>TTG,c.554TGG>TTG,c.554TGG>TTG,c.554TGG>TTG,c.554TGG>TTG,c.554TGG>TTG
chr22:26688831	protein	p.185W>L,p.185W>L,p.185W>L,p.185W>L,p.185W>L,p.185W>L
chr22:26688831	worst	missense
chr22:26688831	class	missense,NON=0,SL=0,MIS=6,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26688831	nvar	1
chr22:26688831	var	chr22:26688831:G/T
chr22:26690407	allele_ref	T
chr22:26690407	allele_alt	C
chr22:26690407	seqdb_ref	T
chr22:26690407	snp_fw_seq3	GTA/GCA
chr22:26690407	snp_rv_seq3	TAC/TGC
chr22:26690407	func	intronic,intronic,intronic,intronic,intronic,intronic
chr22:26690407	transcript	NM_001184773,NM_001184774,NM_001184775,NM_001184776,NM_001184777,NM_021115
chr22:26690407	genomic	.,.,.,.,.,.
chr22:26690407	codon	.,.,.,.,.,.
chr22:26690407	protein	.,.,.,.,.,.
chr22:26690407	worst	intronic
chr22:26690407	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=6,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26690407	nvar	1
chr22:26690407	var	chr22:26690407:T/C
chr22:26692922	allele_ref	C
chr22:26692922	allele_alt	T
chr22:26692922	seqdb_ref	C
chr22:26692922	snp_fw_seq3	CCG/CTG
chr22:26692922	snp_rv_seq3	CGG/CAG
chr22:26692922	func	silent,silent,silent,silent,silent,silent
chr22:26692922	transcript	NM_001184773,NM_001184774,NM_001184775,NM_001184776,NM_001184777,NM_021115
chr22:26692922	genomic	.,.,.,.,.,.
chr22:26692922	codon	.,.,.,.,.,.
chr22:26692922	protein	.,.,.,.,.,.
chr22:26692922	worst	silent
chr22:26692922	class	silent,NON=0,SL=0,MIS=0,SYN=6,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26692922	nvar	1
chr22:26692922	var	chr22:26692922:C/T
chr22:26694919	allele_ref	T
chr22:26694919	allele_alt	C
chr22:26694919	seqdb_ref	T
chr22:26694919	snp_fw_seq3	ATG/ACG
chr22:26694919	snp_rv_seq3	CAT/CGT
chr22:26694919	func	intronic,intronic,intronic,intronic,intronic,intronic
chr22:26694919	transcript	NM_001184773,NM_001184774,NM_001184775,NM_001184776,NM_001184777,NM_021115
chr22:26694919	genomic	.,.,.,.,.,.
chr22:26694919	codon	.,.,.,.,.,.
chr22:26694919	protein	.,.,.,.,.,.
chr22:26694919	worst	intronic
chr22:26694919	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=6,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26694919	nvar	1
chr22:26694919	var	chr22:26694919:T/C
chr22:26695077	allele_ref	G
chr22:26695077	allele_alt	T
chr22:26695077	seqdb_ref	G
chr22:26695077	snp_fw_seq3	TGC/TTC
chr22:26695077	snp_rv_seq3	GCA/GAA
chr22:26695077	func	missense,missense,missense,missense,missense,missense
chr22:26695077	transcript	NM_001184773,NM_001184774,NM_001184775,NM_001184776,NM_001184777,NM_021115
chr22:26695077	genomic	g.1290G>T,g.1290G>T,g.1290G>T,g.1290G>T,g.1290G>T,g.1290G>T
chr22:26695077	codon	c.1290ATG>ATT,c.1290ATG>ATT,c.1290ATG>ATT,c.1290ATG>ATT,c.1290ATG>ATT,c.1290ATG>ATT
chr22:26695077	protein	p.430M>I,p.430M>I,p.430M>I,p.430M>I,p.430M>I,p.430M>I
chr22:26695077	worst	missense
chr22:26695077	class	missense,NON=0,SL=0,MIS=6,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26695077	nvar	1
chr22:26695077	var	chr22:26695077:G/T
chr22:26702015	allele_ref	A
chr22:26702015	allele_alt	C
chr22:26702015	seqdb_ref	A
chr22:26702015	snp_fw_seq3	CAA/CCA
chr22:26702015	snp_rv_seq3	TTG/TGG
chr22:26702015	func	silent,silent,silent,silent,silent,silent
chr22:26702015	transcript	NM_001184773,NM_001184774,NM_001184775,NM_001184776,NM_001184777,NM_021115
chr22:26702015	genomic	.,.,.,.,.,.
chr22:26702015	codon	.,.,.,.,.,.
chr22:26702015	protein	.,.,.,.,.,.
chr22:26702015	worst	silent
chr22:26702015	class	silent,NON=0,SL=0,MIS=0,SYN=6,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26702015	nvar	1
chr22:26702015	var	chr22:26702015:A/C
chr22:26706747	allele_ref	C
chr22:26706747	allele_alt	T
chr22:26706747	seqdb_ref	C
chr22:26706747	snp_fw_seq3	TCG/TTG
chr22:26706747	snp_rv_seq3	CGA/CAA
chr22:26706747	func	silent,silent,silent,silent,silent,silent
chr22:26706747	transcript	NM_001184773,NM_001184774,NM_001184775,NM_001184776,NM_001184777,NM_021115
chr22:26706747	genomic	.,.,.,.,.,.
chr22:26706747	codon	.,.,.,.,.,.
chr22:26706747	protein	.,.,.,.,.,.
chr22:26706747	worst	silent
chr22:26706747	class	silent,NON=0,SL=0,MIS=0,SYN=6,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26706747	nvar	1
chr22:26706747	var	chr22:26706747:C/T
chr22:26706826	allele_ref	T
chr22:26706826	allele_alt	C
chr22:26706826	seqdb_ref	T
chr22:26706826	snp_fw_seq3	CTT/CCT
chr22:26706826	snp_rv_seq3	AAG/AGG
chr22:26706826	func	intronic,intronic,intronic,intronic,intronic,intronic
chr22:26706826	transcript	NM_001184773,NM_001184774,NM_001184775,NM_001184776,NM_001184777,NM_021115
chr22:26706826	genomic	.,.,.,.,.,.
chr22:26706826	codon	.,.,.,.,.,.
chr22:26706826	protein	.,.,.,.,.,.
chr22:26706826	worst	intronic
chr22:26706826	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=6,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26706826	nvar	1
chr22:26706826	var	chr22:26706826:T/C
chr22:26709694	allele_ref	A
chr22:26709694	allele_alt	G
chr22:26709694	seqdb_ref	A
chr22:26709694	snp_fw_seq3	AAT/AGT
chr22:26709694	snp_rv_seq3	ATT/ACT
chr22:26709694	func	intronic,intronic,intronic,intronic,intronic,intronic
chr22:26709694	transcript	NM_001184773,NM_001184774,NM_001184775,NM_001184776,NM_001184777,NM_021115
chr22:26709694	genomic	.,.,.,.,.,.
chr22:26709694	codon	.,.,.,.,.,.
chr22:26709694	protein	.,.,.,.,.,.
chr22:26709694	worst	intronic
chr22:26709694	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=6,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26709694	nvar	1
chr22:26709694	var	chr22:26709694:A/G
chr22:26743751	allele_ref	A
chr22:26743751	allele_alt	T
chr22:26743751	seqdb_ref	A
chr22:26743751	snp_fw_seq3	CAC/CTC
chr22:26743751	snp_rv_seq3	GTG/GAG
chr22:26743751	func	missense,missense,missense,missense,missense,missense
chr22:26743751	transcript	NM_001184773,NM_001184774,NM_001184775,NM_001184776,NM_001184777,NM_021115
chr22:26743751	genomic	g.2279A>T,g.2279A>T,g.2279A>T,g.2279A>T,g.2279A>T,g.2279A>T
chr22:26743751	codon	c.2279CAC>CTC,c.2279CAC>CTC,c.2279CAC>CTC,c.2279CAC>CTC,c.2279CAC>CTC,c.2279CAC>CTC
chr22:26743751	protein	p.760H>L,p.760H>L,p.760H>L,p.760H>L,p.760H>L,p.760H>L
chr22:26743751	worst	missense
chr22:26743751	class	missense,NON=0,SL=0,MIS=6,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26743751	nvar	1
chr22:26743751	var	chr22:26743751:A/T
chr22:26743866	allele_ref	A
chr22:26743866	allele_alt	T
chr22:26743866	seqdb_ref	A
chr22:26743866	snp_fw_seq3	CAT/CTT
chr22:26743866	snp_rv_seq3	ATG/AAG
chr22:26743866	func	silent,silent,silent,silent,silent,silent
chr22:26743866	transcript	NM_001184773,NM_001184774,NM_001184775,NM_001184776,NM_001184777,NM_021115
chr22:26743866	genomic	.,.,.,.,.,.
chr22:26743866	codon	.,.,.,.,.,.
chr22:26743866	protein	.,.,.,.,.,.
chr22:26743866	worst	silent
chr22:26743866	class	silent,NON=0,SL=0,MIS=0,SYN=6,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26743866	nvar	1
chr22:26743866	var	chr22:26743866:A/T
chr22:26771563	allele_ref	G
chr22:26771563	allele_alt	A
chr22:26771563	seqdb_ref	G
chr22:26771563	snp_fw_seq3	CGT/CAT
chr22:26771563	snp_rv_seq3	ACG/ATG
chr22:26771563	func	silent,silent,silent,silent,silent,silent
chr22:26771563	transcript	NM_001184773,NM_001184774,NM_001184775,NM_001184776,NM_001184777,NM_021115
chr22:26771563	genomic	.,.,.,.,.,.
chr22:26771563	codon	.,.,.,.,.,.
chr22:26771563	protein	.,.,.,.,.,.
chr22:26771563	worst	silent
chr22:26771563	class	silent,NON=0,SL=0,MIS=0,SYN=6,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26771563	nvar	1
chr22:26771563	var	chr22:26771563:G/A
chr22:26773758	allele_ref	C
chr22:26773758	allele_alt	A
chr22:26773758	seqdb_ref	C
chr22:26773758	snp_fw_seq3	TCG/TAG
chr22:26773758	snp_rv_seq3	CGA/CTA
chr22:26773758	func	intronic,intronic,intronic,intronic,intronic,intronic
chr22:26773758	transcript	NM_001184773,NM_001184774,NM_001184775,NM_001184776,NM_001184777,NM_021115
chr22:26773758	genomic	.,.,.,.,.,.
chr22:26773758	codon	.,.,.,.,.,.
chr22:26773758	protein	.,.,.,.,.,.
chr22:26773758	worst	intronic
chr22:26773758	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=6,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26773758	nvar	1
chr22:26773758	var	chr22:26773758:C/A
chr22:26776221	allele_ref	C
chr22:26776221	allele_alt	G
chr22:26776221	seqdb_ref	C
chr22:26776221	snp_fw_seq3	TCT/TGT
chr22:26776221	snp_rv_seq3	AGA/ACA
chr22:26776221	func	intronic,intronic,intronic,intronic,intronic,intronic
chr22:26776221	transcript	NM_001184773,NM_001184774,NM_001184775,NM_001184776,NM_001184777,NM_021115
chr22:26776221	genomic	.,.,.,.,.,.
chr22:26776221	codon	.,.,.,.,.,.
chr22:26776221	protein	.,.,.,.,.,.
chr22:26776221	worst	intronic
chr22:26776221	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=6,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26776221	nvar	1
chr22:26776221	var	chr22:26776221:C/G
chr22:26776311	allele_ref	C
chr22:26776311	allele_alt	T
chr22:26776311	seqdb_ref	C
chr22:26776311	snp_fw_seq3	TCG/TTG
chr22:26776311	snp_rv_seq3	CGA/CAA
chr22:26776311	func	3-UTR,3-UTR,3-UTR,3-UTR,3-UTR,3-UTR
chr22:26776311	transcript	NM_001184773,NM_001184774,NM_001184775,NM_001184776,NM_001184777,NM_021115
chr22:26776311	genomic	.,.,.,.,.,.
chr22:26776311	codon	.,.,.,.,.,.
chr22:26776311	protein	.,.,.,.,.,.
chr22:26776311	worst	UTR3
chr22:26776311	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=6,npcRNA=0
chr22:26776311	nvar	1
chr22:26776311	var	chr22:26776311:C/T
chr22:26830478	allele_ref	A
chr22:26830478	allele_alt	G
chr22:26830478	seqdb_ref	A
chr22:26830478	snp_fw_seq3	AAG/AGG
chr22:26830478	snp_rv_seq3	CTT/CCT
chr22:26830478	func	intronic
chr22:26830478	transcript	NM_020437
chr22:26830478	genomic	.
chr22:26830478	codon	.
chr22:26830478	protein	.
chr22:26830478	worst	intronic
chr22:26830478	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26830478	nvar	1
chr22:26830478	var	chr22:26830478:A/G
chr22:26830495	allele_ref	G
chr22:26830495	allele_alt	A
chr22:26830495	seqdb_ref	G
chr22:26830495	snp_fw_seq3	GGC/GAC
chr22:26830495	snp_rv_seq3	GCC/GTC
chr22:26830495	func	intronic
chr22:26830495	transcript	NM_020437
chr22:26830495	genomic	.
chr22:26830495	codon	.
chr22:26830495	protein	.
chr22:26830495	worst	intronic
chr22:26830495	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26830495	nvar	1
chr22:26830495	var	chr22:26830495:G/A
chr22:26853807	allele_ref	C
chr22:26853807	allele_alt	T
chr22:26853807	seqdb_ref	C
chr22:26853807	snp_fw_seq3	GCG/GTG
chr22:26853807	snp_rv_seq3	CGC/CAC
chr22:26853807	func	intronic,intronic
chr22:26853807	transcript	NM_022081,NM_152841
chr22:26853807	genomic	.,.
chr22:26853807	codon	.,.
chr22:26853807	protein	.,.
chr22:26853807	worst	intronic
chr22:26853807	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26853807	nvar	1
chr22:26853807	var	chr22:26853807:C/T
chr22:26853881	allele_ref	G
chr22:26853881	allele_alt	A
chr22:26853881	seqdb_ref	G
chr22:26853881	snp_fw_seq3	TGA/TAA
chr22:26853881	snp_rv_seq3	TCA/TTA
chr22:26853881	func	silent,silent
chr22:26853881	transcript	NM_022081,NM_152841
chr22:26853881	genomic	.,.
chr22:26853881	codon	.,.
chr22:26853881	protein	.,.
chr22:26853881	worst	silent
chr22:26853881	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26853881	nvar	1
chr22:26853881	var	chr22:26853881:G/A
chr22:26853897	allele_ref	C
chr22:26853897	allele_alt	T
chr22:26853897	seqdb_ref	C
chr22:26853897	snp_fw_seq3	GCG/GTG
chr22:26853897	snp_rv_seq3	CGC/CAC
chr22:26853897	func	missense,missense
chr22:26853897	transcript	NM_022081,NM_152841
chr22:26853897	genomic	g.1883C>T,g.1868C>T
chr22:26853897	codon	c.1883CGC>CAC,c.1868CGC>CAC
chr22:26853897	protein	p.628R>H,p.623R>H
chr22:26853897	worst	missense
chr22:26853897	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26853897	nvar	1
chr22:26853897	var	chr22:26853897:C/T
chr22:26853905	allele_ref	C
chr22:26853905	allele_alt	A
chr22:26853905	seqdb_ref	C
chr22:26853905	snp_fw_seq3	CCT/CAT
chr22:26853905	snp_rv_seq3	AGG/ATG
chr22:26853905	func	missense,missense
chr22:26853905	transcript	NM_022081,NM_152841
chr22:26853905	genomic	g.1875C>A,g.1860C>A
chr22:26853905	codon	c.1875CAG>CAT,c.1860CAG>CAT
chr22:26853905	protein	p.625Q>H,p.620Q>H
chr22:26853905	worst	missense
chr22:26853905	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26853905	nvar	1
chr22:26853905	var	chr22:26853905:C/A
chr22:26853980	allele_ref	T
chr22:26853980	allele_alt	C
chr22:26853980	seqdb_ref	T
chr22:26853980	snp_fw_seq3	CTG/CCG
chr22:26853980	snp_rv_seq3	CAG/CGG
chr22:26853980	func	intronic,intronic
chr22:26853980	transcript	NM_022081,NM_152841
chr22:26853980	genomic	.,.
chr22:26853980	codon	.,.
chr22:26853980	protein	.,.
chr22:26853980	worst	intronic
chr22:26853980	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26853980	nvar	1
chr22:26853980	var	chr22:26853980:T/C
chr22:26854441	allele_ref	G
chr22:26854441	allele_alt	A
chr22:26854441	seqdb_ref	G
chr22:26854441	snp_fw_seq3	TGT/TAT
chr22:26854441	snp_rv_seq3	ACA/ATA
chr22:26854441	func	missense,missense
chr22:26854441	transcript	NM_022081,NM_152841
chr22:26854441	genomic	g.1816G>A,g.1801G>A
chr22:26854441	codon	c.1816CAT>TAT,c.1801CAT>TAT
chr22:26854441	protein	p.606H>Y,p.601H>Y
chr22:26854441	worst	missense
chr22:26854441	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26854441	nvar	1
chr22:26854441	var	chr22:26854441:G/A
chr22:26859942	allele_ref	C
chr22:26859942	allele_alt	T
chr22:26859942	seqdb_ref	C
chr22:26859942	snp_fw_seq3	ACC/ATC
chr22:26859942	snp_rv_seq3	GGT/GAT
chr22:26859942	func	missense,missense
chr22:26859942	transcript	NM_022081,NM_152841
chr22:26859942	genomic	g.1654C>T,g.1639C>T
chr22:26859942	codon	c.1654GTG>ATG,c.1639GTG>ATG
chr22:26859942	protein	p.552V>M,p.547V>M
chr22:26859942	worst	missense
chr22:26859942	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26859942	nvar	1
chr22:26859942	var	chr22:26859942:C/T
chr22:26860269	allele_ref	G
chr22:26860269	allele_alt	C
chr22:26860269	seqdb_ref	G
chr22:26860269	snp_fw_seq3	AGC/ACC
chr22:26860269	snp_rv_seq3	GCT/GGT
chr22:26860269	func	missense,missense
chr22:26860269	transcript	NM_022081,NM_152841
chr22:26860269	genomic	g.1327G>C,g.1312G>C
chr22:26860269	codon	c.1327CTC>GTC,c.1312CTC>GTC
chr22:26860269	protein	p.443L>V,p.438L>V
chr22:26860269	worst	missense
chr22:26860269	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26860269	nvar	1
chr22:26860269	var	chr22:26860269:G/C
chr22:26860582	allele_ref	G
chr22:26860582	allele_alt	A
chr22:26860582	seqdb_ref	G
chr22:26860582	snp_fw_seq3	CGG/CAG
chr22:26860582	snp_rv_seq3	CCG/CTG
chr22:26860582	func	silent,silent
chr22:26860582	transcript	NM_022081,NM_152841
chr22:26860582	genomic	.,.
chr22:26860582	codon	.,.
chr22:26860582	protein	.,.
chr22:26860582	worst	silent
chr22:26860582	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26860582	nvar	1
chr22:26860582	var	chr22:26860582:G/A
chr22:26861514	allele_ref	G
chr22:26861514	allele_alt	A
chr22:26861514	seqdb_ref	G
chr22:26861514	snp_fw_seq3	CGC/CAC
chr22:26861514	snp_rv_seq3	GCG/GTG
chr22:26861514	func	splice,missense,splice,missense
chr22:26861514	annot_details	DIST=-3,NMD=0,OFPTV=1,EXIN=10,ISEQ=GACCTT,ESEQ=GGCGAG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS10+-3C>T,DIST=-3,NMD=0,OFPTV=1,EXIN=8,ISEQ=GACCTT,ESEQ=GGCGAG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS8+-3C>T
chr22:26861514	transcript	NM_022081,NM_022081,NM_152841,NM_152841
chr22:26861514	genomic	.,g.710G>A,.,g.695G>A
chr22:26861514	codon	.,c.710GCG>GTG,.,c.695GCG>GTG
chr22:26861514	protein	.,p.237A>V,.,p.232A>V
chr22:26861514	worst	missense
chr22:26861514	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26861514	nvar	1
chr22:26861514	var	chr22:26861514:G/A
chr22:26861545	allele_ref	A
chr22:26861545	allele_alt	G
chr22:26861545	seqdb_ref	A
chr22:26861545	snp_fw_seq3	GAC/GGC
chr22:26861545	snp_rv_seq3	GTC/GCC
chr22:26861545	func	intronic,intronic
chr22:26861545	transcript	NM_022081,NM_152841
chr22:26861545	genomic	.,.
chr22:26861545	codon	.,.
chr22:26861545	protein	.,.
chr22:26861545	worst	intronic
chr22:26861545	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26861545	nvar	1
chr22:26861545	var	chr22:26861545:A/G
chr22:26862156	allele_ref	C
chr22:26862156	allele_alt	T
chr22:26862156	seqdb_ref	C
chr22:26862156	snp_fw_seq3	CCG/CTG
chr22:26862156	snp_rv_seq3	CGG/CAG
chr22:26862156	func	intronic,intronic
chr22:26862156	transcript	NM_022081,NM_152841
chr22:26862156	genomic	.,.
chr22:26862156	codon	.,.
chr22:26862156	protein	.,.
chr22:26862156	worst	intronic
chr22:26862156	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26862156	nvar	1
chr22:26862156	var	chr22:26862156:C/T
chr22:26862212	allele_ref	T
chr22:26862212	allele_alt	C
chr22:26862212	seqdb_ref	T
chr22:26862212	snp_fw_seq3	CTC/CCC
chr22:26862212	snp_rv_seq3	GAG/GGG
chr22:26862212	func	missense,missense
chr22:26862212	transcript	NM_022081,NM_152841
chr22:26862212	genomic	g.686T>C,g.671T>C
chr22:26862212	codon	c.686GAG>GGG,c.671GAG>GGG
chr22:26862212	protein	p.229E>G,p.224E>G
chr22:26862212	worst	missense
chr22:26862212	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26862212	nvar	1
chr22:26862212	var	chr22:26862212:T/C
chr22:26868938	allele_ref	T
chr22:26868938	allele_alt	C
chr22:26868938	seqdb_ref	t
chr22:26868938	snp_fw_seq3	ctt/cCt
chr22:26868938	snp_rv_seq3	aag/aGg
chr22:26868938	func	intronic,intronic
chr22:26868938	transcript	NM_022081,NM_152841
chr22:26868938	genomic	.,.
chr22:26868938	codon	.,.
chr22:26868938	protein	.,.
chr22:26868938	worst	intronic
chr22:26868938	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26868938	nvar	1
chr22:26868938	var	chr22:26868938:T/C
chr22:26877706	allele_ref	T
chr22:26877706	allele_alt	A
chr22:26877706	seqdb_ref	T
chr22:26877706	snp_fw_seq3	CTC/CAC
chr22:26877706	snp_rv_seq3	GAG/GTG
chr22:26877706	func	missense
chr22:26877706	transcript	NM_022081
chr22:26877706	genomic	g.23T>A
chr22:26877706	codon	c.23GAG>GTG
chr22:26877706	protein	p.8E>V
chr22:26877706	worst	missense
chr22:26877706	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26877706	nvar	1
chr22:26877706	var	chr22:26877706:T/A
chr22:26884039	allele_ref	G
chr22:26884039	allele_alt	A
chr22:26884039	seqdb_ref	G
chr22:26884039	snp_fw_seq3	GGC/GAC
chr22:26884039	snp_rv_seq3	GCC/GTC
chr22:26884039	func	missense
chr22:26884039	transcript	NM_001013694
chr22:26884039	genomic	g.295G>A
chr22:26884039	codon	c.295GCC>ACC
chr22:26884039	protein	p.99A>T
chr22:26884039	worst	missense
chr22:26884039	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26884039	nvar	1
chr22:26884039	var	chr22:26884039:G/A
chr22:26884324	allele_ref	G
chr22:26884324	allele_alt	A
chr22:26884324	seqdb_ref	G
chr22:26884324	snp_fw_seq3	GGT/GAT
chr22:26884324	snp_rv_seq3	ACC/ATC
chr22:26884324	func	intronic
chr22:26884324	transcript	NM_001013694
chr22:26884324	genomic	.
chr22:26884324	codon	.
chr22:26884324	protein	.
chr22:26884324	worst	intronic
chr22:26884324	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26884324	nvar	1
chr22:26884324	var	chr22:26884324:G/A
chr22:26886973	allele_ref	G
chr22:26886973	allele_alt	T
chr22:26886973	seqdb_ref	G
chr22:26886973	snp_fw_seq3	GGT/GTT
chr22:26886973	snp_rv_seq3	ACC/AAC
chr22:26886973	func	intronic
chr22:26886973	transcript	NM_001013694
chr22:26886973	genomic	.
chr22:26886973	codon	.
chr22:26886973	protein	.
chr22:26886973	worst	intronic
chr22:26886973	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26886973	nvar	1
chr22:26886973	var	chr22:26886973:G/T
chr22:26888033	allele_ref	G
chr22:26888033	allele_alt	A
chr22:26888033	seqdb_ref	G
chr22:26888033	snp_fw_seq3	CGC/CAC
chr22:26888033	snp_rv_seq3	GCG/GTG
chr22:26888033	func	silent,silent
chr22:26888033	transcript	NM_001008697,NM_012143
chr22:26888033	genomic	.,.
chr22:26888033	codon	.,.
chr22:26888033	protein	.,.
chr22:26888033	worst	silent
chr22:26888033	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26888033	nvar	1
chr22:26888033	var	chr22:26888033:G/A
chr22:26894974	allele_ref	G
chr22:26894974	allele_alt	A
chr22:26894974	seqdb_ref	G
chr22:26894974	snp_fw_seq3	CGG/CAG
chr22:26894974	snp_rv_seq3	CCG/CTG
chr22:26894974	func	intronic,intronic
chr22:26894974	transcript	NM_001008697,NM_012143
chr22:26894974	genomic	.,.
chr22:26894974	codon	.,.
chr22:26894974	protein	.,.
chr22:26894974	worst	intronic
chr22:26894974	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26894974	nvar	1
chr22:26894974	var	chr22:26894974:G/A
chr22:26894985	allele_ref	C
chr22:26894985	allele_alt	T
chr22:26894985	seqdb_ref	C
chr22:26894985	snp_fw_seq3	GCC/GTC
chr22:26894985	snp_rv_seq3	GGC/GAC
chr22:26894985	func	intronic,intronic
chr22:26894985	transcript	NM_001008697,NM_012143
chr22:26894985	genomic	.,.
chr22:26894985	codon	.,.
chr22:26894985	protein	.,.
chr22:26894985	worst	intronic
chr22:26894985	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26894985	nvar	1
chr22:26894985	var	chr22:26894985:C/T
chr22:26895061	allele_ref	G
chr22:26895061	allele_alt	A
chr22:26895061	seqdb_ref	G
chr22:26895061	snp_fw_seq3	AGC/AAC
chr22:26895061	snp_rv_seq3	GCT/GTT
chr22:26895061	func	intronic,intronic
chr22:26895061	transcript	NM_001008697,NM_012143
chr22:26895061	genomic	.,.
chr22:26895061	codon	.,.
chr22:26895061	protein	.,.
chr22:26895061	worst	intronic
chr22:26895061	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26895061	nvar	1
chr22:26895061	var	chr22:26895061:G/A
chr22:26895337	allele_ref	G
chr22:26895337	allele_alt	A
chr22:26895337	seqdb_ref	G
chr22:26895337	snp_fw_seq3	CGT/CAT
chr22:26895337	snp_rv_seq3	ACG/ATG
chr22:26895337	func	silent,silent
chr22:26895337	transcript	NM_001008697,NM_012143
chr22:26895337	genomic	.,.
chr22:26895337	codon	.,.
chr22:26895337	protein	.,.
chr22:26895337	worst	silent
chr22:26895337	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26895337	nvar	1
chr22:26895337	var	chr22:26895337:G/A
chr22:26897834	allele_ref	A
chr22:26897834	allele_alt	T
chr22:26897834	seqdb_ref	A
chr22:26897834	snp_fw_seq3	GAT/GTT
chr22:26897834	snp_rv_seq3	ATC/AAC
chr22:26897834	func	intronic,intronic
chr22:26897834	transcript	NM_001008697,NM_012143
chr22:26897834	genomic	.,.
chr22:26897834	codon	.,.
chr22:26897834	protein	.,.
chr22:26897834	worst	intronic
chr22:26897834	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26897834	nvar	1
chr22:26897834	var	chr22:26897834:A/T
chr22:26902371	allele_ref	T
chr22:26902371	allele_alt	C
chr22:26902371	seqdb_ref	T
chr22:26902371	snp_fw_seq3	ATG/ACG
chr22:26902371	snp_rv_seq3	CAT/CGT
chr22:26902371	func	missense,missense
chr22:26902371	transcript	NM_001008697,NM_012143
chr22:26902371	genomic	g.418T>C,g.418T>C
chr22:26902371	codon	c.418ATG>GTG,c.418ATG>GTG
chr22:26902371	protein	p.140M>V,p.140M>V
chr22:26902371	worst	missense
chr22:26902371	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26902371	nvar	1
chr22:26902371	var	chr22:26902371:T/C
chr22:26924149	allele_ref	C
chr22:26924149	allele_alt	T
chr22:26924149	seqdb_ref	C
chr22:26924149	snp_fw_seq3	GCG/GTG
chr22:26924149	snp_rv_seq3	CGC/CAC
chr22:26924149	func	intronic,intronic
chr22:26924149	transcript	NM_001008566,NM_003595
chr22:26924149	genomic	.,.
chr22:26924149	codon	.,.
chr22:26924149	protein	.,.
chr22:26924149	worst	intronic
chr22:26924149	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26924149	nvar	1
chr22:26924149	var	chr22:26924149:C/T
chr22:26928613	allele_ref	G
chr22:26928613	allele_alt	A
chr22:26928613	seqdb_ref	g
chr22:26928613	snp_fw_seq3	ggt/gAt
chr22:26928613	snp_rv_seq3	acc/aTc
chr22:26928613	func	intronic,intronic
chr22:26928613	transcript	NM_001008566,NM_003595
chr22:26928613	genomic	.,.
chr22:26928613	codon	.,.
chr22:26928613	protein	.,.
chr22:26928613	worst	intronic
chr22:26928613	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26928613	nvar	1
chr22:26928613	var	chr22:26928613:G/A
chr22:26936766	allele_ref	G
chr22:26936766	allele_alt	A
chr22:26936766	seqdb_ref	G
chr22:26936766	snp_fw_seq3	AGA/AAA
chr22:26936766	snp_rv_seq3	TCT/TTT
chr22:26936766	func	silent,silent
chr22:26936766	transcript	NM_001008566,NM_003595
chr22:26936766	genomic	.,.
chr22:26936766	codon	.,.
chr22:26936766	protein	.,.
chr22:26936766	worst	silent
chr22:26936766	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26936766	nvar	1
chr22:26936766	var	chr22:26936766:G/A
chr22:26936897	allele_ref	G
chr22:26936897	allele_alt	A
chr22:26936897	seqdb_ref	G
chr22:26936897	snp_fw_seq3	AGG/AAG
chr22:26936897	snp_rv_seq3	CCT/CTT
chr22:26936897	func	silent,silent
chr22:26936897	transcript	NM_001008566,NM_003595
chr22:26936897	genomic	.,.
chr22:26936897	codon	.,.
chr22:26936897	protein	.,.
chr22:26936897	worst	silent
chr22:26936897	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26936897	nvar	1
chr22:26936897	var	chr22:26936897:G/A
chr22:26936928	allele_ref	G
chr22:26936928	allele_alt	C
chr22:26936928	seqdb_ref	G
chr22:26936928	snp_fw_seq3	GGG/GCG
chr22:26936928	snp_rv_seq3	CCC/CGC
chr22:26936928	func	silent,silent
chr22:26936928	transcript	NM_001008566,NM_003595
chr22:26936928	genomic	.,.
chr22:26936928	codon	.,.
chr22:26936928	protein	.,.
chr22:26936928	worst	silent
chr22:26936928	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26936928	nvar	1
chr22:26936928	var	chr22:26936928:G/C
chr22:26937321	allele_ref	G
chr22:26937321	allele_alt	A
chr22:26937321	seqdb_ref	G
chr22:26937321	snp_fw_seq3	CGG/CAG
chr22:26937321	snp_rv_seq3	CCG/CTG
chr22:26937321	func	silent,silent
chr22:26937321	transcript	NM_001008566,NM_003595
chr22:26937321	genomic	.,.
chr22:26937321	codon	.,.
chr22:26937321	protein	.,.
chr22:26937321	worst	silent
chr22:26937321	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26937321	nvar	1
chr22:26937321	var	chr22:26937321:G/A
chr22:26937327	allele_ref	C
chr22:26937327	allele_alt	G,A
chr22:26937327	seqdb_ref	C
chr22:26937327	func	silent,silent
chr22:26937327	transcript	NM_001008566,NM_003595
chr22:26937327	genomic	.,.
chr22:26937327	codon	.,.
chr22:26937327	protein	.,.
chr22:26937327	worst	silent
chr22:26937327	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:26937327	nvar	1
chr22:26937327	var	chr22:26937327:C/G,A
chr22:26995408	allele_ref	G
chr22:26995408	allele_alt	A
chr22:26995408	seqdb_ref	G
chr22:26995408	snp_fw_seq3	TGA/TAA
chr22:26995408	snp_rv_seq3	TCA/TTA
chr22:26995408	func	3-UTR
chr22:26995408	transcript	NM_001887
chr22:26995408	genomic	.
chr22:26995408	codon	.
chr22:26995408	protein	.
chr22:26995408	worst	UTR3
chr22:26995408	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:26995408	nvar	1
chr22:26995408	var	chr22:26995408:G/A
chr22:27008020	allele_ref	G
chr22:27008020	allele_alt	T
chr22:27008020	seqdb_ref	G
chr22:27008020	snp_fw_seq3	CGC/CTC
chr22:27008020	snp_rv_seq3	GCG/GAG
chr22:27008020	func	intronic
chr22:27008020	transcript	NM_001887
chr22:27008020	genomic	.
chr22:27008020	codon	.
chr22:27008020	protein	.
chr22:27008020	worst	intronic
chr22:27008020	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:27008020	nvar	1
chr22:27008020	var	chr22:27008020:G/T
chr22:27019154	allele_ref	G
chr22:27019154	allele_alt	A
chr22:27019154	seqdb_ref	G
chr22:27019154	snp_fw_seq3	CGG/CAG
chr22:27019154	snp_rv_seq3	CCG/CTG
chr22:27019154	func	intronic
chr22:27019154	transcript	NM_001886
chr22:27019154	genomic	.
chr22:27019154	codon	.
chr22:27019154	protein	.
chr22:27019154	worst	intronic
chr22:27019154	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:27019154	nvar	1
chr22:27019154	var	chr22:27019154:G/A
chr22:27021401	allele_ref	G
chr22:27021401	allele_alt	A
chr22:27021401	seqdb_ref	G
chr22:27021401	snp_fw_seq3	TGA/TAA
chr22:27021401	snp_rv_seq3	TCA/TTA
chr22:27021401	func	intronic
chr22:27021401	transcript	NM_001886
chr22:27021401	genomic	.
chr22:27021401	codon	.
chr22:27021401	protein	.
chr22:27021401	worst	intronic
chr22:27021401	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:27021401	nvar	1
chr22:27021401	var	chr22:27021401:G/A
chr22:27021409	allele_ref	C
chr22:27021409	allele_alt	T
chr22:27021409	seqdb_ref	C
chr22:27021409	snp_fw_seq3	ACG/ATG
chr22:27021409	snp_rv_seq3	CGT/CAT
chr22:27021409	func	intronic
chr22:27021409	transcript	NM_001886
chr22:27021409	genomic	.
chr22:27021409	codon	.
chr22:27021409	protein	.
chr22:27021409	worst	intronic
chr22:27021409	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:27021409	nvar	1
chr22:27021409	var	chr22:27021409:C/T
chr22:27021425	allele_ref	A
chr22:27021425	allele_alt	G
chr22:27021425	seqdb_ref	A
chr22:27021425	snp_fw_seq3	CAC/CGC
chr22:27021425	snp_rv_seq3	GTG/GCG
chr22:27021425	func	intronic
chr22:27021425	transcript	NM_001886
chr22:27021425	genomic	.
chr22:27021425	codon	.
chr22:27021425	protein	.
chr22:27021425	worst	intronic
chr22:27021425	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:27021425	nvar	1
chr22:27021425	var	chr22:27021425:A/G
chr22:27021457	allele_ref	T
chr22:27021457	allele_alt	C
chr22:27021457	seqdb_ref	T
chr22:27021457	snp_fw_seq3	TTG/TCG
chr22:27021457	snp_rv_seq3	CAA/CGA
chr22:27021457	func	silent
chr22:27021457	transcript	NM_001886
chr22:27021457	genomic	.
chr22:27021457	codon	.
chr22:27021457	protein	.
chr22:27021457	worst	silent
chr22:27021457	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:27021457	nvar	1
chr22:27021457	var	chr22:27021457:T/C
chr22:27021589	allele_ref	A
chr22:27021589	allele_alt	G
chr22:27021589	seqdb_ref	A
chr22:27021589	snp_fw_seq3	TAA/TGA
chr22:27021589	snp_rv_seq3	TTA/TCA
chr22:27021589	func	intronic,splice
chr22:27021589	annot_details	DIST=3,NMD=0,OFPTV=0,EXIN=4,ISEQ=GTAAGT,ESEQ=TGTGCT,SPLICE_TYPE=donor,ALT=G,HGVS=c.IVS4+3A>G
chr22:27021589	transcript	NM_001886,NM_001886
chr22:27021589	genomic	.,.
chr22:27021589	codon	.,.
chr22:27021589	protein	.,.
chr22:27021589	worst	splice
chr22:27021589	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:27021589	nvar	1
chr22:27021589	var	chr22:27021589:A/G
chr22:27024258	allele_ref	C
chr22:27024258	allele_alt	T
chr22:27024258	seqdb_ref	C
chr22:27024258	snp_fw_seq3	CCG/CTG
chr22:27024258	snp_rv_seq3	CGG/CAG
chr22:27024258	func	missense
chr22:27024258	transcript	NM_001886
chr22:27024258	genomic	g.307C>T
chr22:27024258	codon	c.307CGT>TGT
chr22:27024258	protein	p.103R>C
chr22:27024258	worst	missense
chr22:27024258	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:27024258	nvar	1
chr22:27024258	var	chr22:27024258:C/T
chr22:28193097	allele_ref	C
chr22:28193097	allele_alt	T
chr22:28193097	seqdb_ref	C
chr22:28193097	snp_fw_seq3	GCG/GTG
chr22:28193097	snp_rv_seq3	CGC/CAC
chr22:28193097	func	silent
chr22:28193097	transcript	NM_002430
chr22:28193097	genomic	.
chr22:28193097	codon	.
chr22:28193097	protein	.
chr22:28193097	worst	silent
chr22:28193097	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:28193097	nvar	1
chr22:28193097	var	chr22:28193097:C/T
chr22:28194747	allele_ref	C
chr22:28194747	allele_alt	T
chr22:28194747	seqdb_ref	C
chr22:28194747	snp_fw_seq3	CCA/CTA
chr22:28194747	snp_rv_seq3	TGG/TAG
chr22:28194747	func	silent
chr22:28194747	transcript	NM_002430
chr22:28194747	genomic	.
chr22:28194747	codon	.
chr22:28194747	protein	.
chr22:28194747	worst	silent
chr22:28194747	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:28194747	nvar	1
chr22:28194747	var	chr22:28194747:C/T
chr22:28195977	allele_ref	G
chr22:28195977	allele_alt	T
chr22:28195977	seqdb_ref	G
chr22:28195977	snp_fw_seq3	CGG/CTG
chr22:28195977	snp_rv_seq3	CCG/CAG
chr22:28195977	func	silent
chr22:28195977	transcript	NM_002430
chr22:28195977	genomic	.
chr22:28195977	codon	.
chr22:28195977	protein	.
chr22:28195977	worst	silent
chr22:28195977	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:28195977	nvar	1
chr22:28195977	var	chr22:28195977:G/T
chr22:28196248	allele_ref	T
chr22:28196248	allele_alt	C
chr22:28196248	seqdb_ref	T
chr22:28196248	snp_fw_seq3	CTG/CCG
chr22:28196248	snp_rv_seq3	CAG/CGG
chr22:28196248	func	missense
chr22:28196248	transcript	NM_002430
chr22:28196248	genomic	g.284T>C
chr22:28196248	codon	c.284CAG>CGG
chr22:28196248	protein	p.95Q>R
chr22:28196248	worst	missense
chr22:28196248	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:28196248	nvar	1
chr22:28196248	var	chr22:28196248:T/C
chr22:28196476	allele_ref	C
chr22:28196476	allele_alt	T
chr22:28196476	seqdb_ref	C
chr22:28196476	snp_fw_seq3	GCC/GTC
chr22:28196476	snp_rv_seq3	GGC/GAC
chr22:28196476	func	missense
chr22:28196476	transcript	NM_002430
chr22:28196476	genomic	g.56C>T
chr22:28196476	codon	c.56GGC>GAC
chr22:28196476	protein	p.19G>D
chr22:28196476	worst	missense
chr22:28196476	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:28196476	nvar	1
chr22:28196476	var	chr22:28196476:C/T
chr22:28269716	allele_ref	C
chr22:28269716	allele_alt	T
chr22:28269716	seqdb_ref	C
chr22:28269716	snp_fw_seq3	GCA/GTA
chr22:28269716	snp_rv_seq3	TGC/TAC
chr22:28269716	func	intronic
chr22:28269716	transcript	NM_012399
chr22:28269716	genomic	.
chr22:28269716	codon	.
chr22:28269716	protein	.
chr22:28269716	worst	intronic
chr22:28269716	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:28269716	nvar	1
chr22:28269716	var	chr22:28269716:C/T
chr22:28292528	allele_ref	G
chr22:28292528	allele_alt	A
chr22:28292528	seqdb_ref	G
chr22:28292528	snp_fw_seq3	AGT/AAT
chr22:28292528	snp_rv_seq3	ACT/ATT
chr22:28292528	func	intronic
chr22:28292528	transcript	NM_012399
chr22:28292528	genomic	.
chr22:28292528	codon	.
chr22:28292528	protein	.
chr22:28292528	worst	intronic
chr22:28292528	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:28292528	nvar	1
chr22:28292528	var	chr22:28292528:G/A
chr22:28293069	allele_ref	A
chr22:28293069	allele_alt	G
chr22:28293069	seqdb_ref	A
chr22:28293069	snp_fw_seq3	CAA/CGA
chr22:28293069	snp_rv_seq3	TTG/TCG
chr22:28293069	func	intronic
chr22:28293069	transcript	NM_012399
chr22:28293069	genomic	.
chr22:28293069	codon	.
chr22:28293069	protein	.
chr22:28293069	worst	intronic
chr22:28293069	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:28293069	nvar	1
chr22:28293069	var	chr22:28293069:A/G
chr22:29121226	allele_ref	C
chr22:29121226	allele_alt	T
chr22:29121226	seqdb_ref	C
chr22:29121226	snp_fw_seq3	ACC/ATC
chr22:29121226	snp_rv_seq3	GGT/GAT
chr22:29121226	func	intronic,splice,intronic,splice,intronic,splice
chr22:29121226	annot_details	DIST=5,NMD=0,OFPTV=1,EXIN=4,ISEQ=TGGATG,ESEQ=GGACTT,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS4+5G>A,DIST=5,NMD=0,OFPTV=1,EXIN=3,ISEQ=TGGATG,ESEQ=GGACTT,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS3+5G>A,DIST=5,NMD=0,OFPTV=1,EXIN=3,ISEQ=TGGATG,ESEQ=GGACTT,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS3+5G>A
chr22:29121226	transcript	NM_001005735,NM_001005735,NM_007194,NM_007194,NM_145862,NM_145862
chr22:29121226	genomic	.,.,.,.,.,.
chr22:29121226	codon	.,.,.,.,.,.
chr22:29121226	protein	.,.,.,.,.,.
chr22:29121226	worst	splice
chr22:29121226	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=3,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29121226	nvar	1
chr22:29121226	var	chr22:29121226:C/T
chr22:29130456	allele_ref	G
chr22:29130456	allele_alt	A
chr22:29130456	seqdb_ref	G
chr22:29130456	snp_fw_seq3	AGG/AAG
chr22:29130456	snp_rv_seq3	CCT/CTT
chr22:29130456	func	missense,missense,missense
chr22:29130456	transcript	NM_001005735,NM_007194,NM_145862
chr22:29130456	genomic	g.254G>A,g.254G>A,g.254G>A
chr22:29130456	codon	c.254CCT>CTT,c.254CCT>CTT,c.254CCT>CTT
chr22:29130456	protein	p.85P>L,p.85P>L,p.85P>L
chr22:29130456	worst	missense
chr22:29130456	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29130456	nvar	1
chr22:29130456	var	chr22:29130456:G/A
chr22:29130458	allele_ref	T
chr22:29130458	allele_alt	C
chr22:29130458	seqdb_ref	T
chr22:29130458	snp_fw_seq3	GTT/GCT
chr22:29130458	snp_rv_seq3	AAC/AGC
chr22:29130458	func	silent,silent,silent
chr22:29130458	transcript	NM_001005735,NM_007194,NM_145862
chr22:29130458	genomic	.,.,.
chr22:29130458	codon	.,.,.
chr22:29130458	protein	.,.,.
chr22:29130458	worst	silent
chr22:29130458	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29130458	nvar	1
chr22:29130458	var	chr22:29130458:T/C
chr22:29141917	allele_ref	A
chr22:29141917	allele_alt	G
chr22:29141917	seqdb_ref	A
chr22:29141917	snp_fw_seq3	TAG/TGG
chr22:29141917	snp_rv_seq3	CTA/CCA
chr22:29141917	func	missense
chr22:29141917	transcript	NM_172002
chr22:29141917	genomic	g.489A>G
chr22:29141917	codon	c.489ATA>ATG
chr22:29141917	protein	p.163I>M
chr22:29141917	worst	missense
chr22:29141917	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29141917	nvar	1
chr22:29141917	var	chr22:29141917:A/G
chr22:29147293	allele_ref	A
chr22:29147293	allele_alt	G
chr22:29147293	seqdb_ref	A
chr22:29147293	snp_fw_seq3	CAC/CGC
chr22:29147293	snp_rv_seq3	GTG/GCG
chr22:29147293	func	intronic
chr22:29147293	transcript	NM_172002
chr22:29147293	genomic	.
chr22:29147293	codon	.
chr22:29147293	protein	.
chr22:29147293	worst	intronic
chr22:29147293	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29147293	nvar	1
chr22:29147293	var	chr22:29147293:A/G
chr22:29177074	allele_ref	A
chr22:29177074	allele_alt	G
chr22:29177074	seqdb_ref	A
chr22:29177074	snp_fw_seq3	TAG/TGG
chr22:29177074	snp_rv_seq3	CTA/CCA
chr22:29177074	func	silent
chr22:29177074	transcript	NM_173510
chr22:29177074	genomic	.
chr22:29177074	codon	.
chr22:29177074	protein	.
chr22:29177074	worst	silent
chr22:29177074	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29177074	nvar	1
chr22:29177074	var	chr22:29177074:A/G
chr22:29177200	allele_ref	C
chr22:29177200	allele_alt	T
chr22:29177200	seqdb_ref	C
chr22:29177200	snp_fw_seq3	TCT/TTT
chr22:29177200	snp_rv_seq3	AGA/AAA
chr22:29177200	func	intronic
chr22:29177200	transcript	NM_173510
chr22:29177200	genomic	.
chr22:29177200	codon	.
chr22:29177200	protein	.
chr22:29177200	worst	intronic
chr22:29177200	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29177200	nvar	1
chr22:29177200	var	chr22:29177200:C/T
chr22:29182070	allele_ref	G
chr22:29182070	allele_alt	C
chr22:29182070	seqdb_ref	G
chr22:29182070	snp_fw_seq3	TGT/TCT
chr22:29182070	snp_rv_seq3	ACA/AGA
chr22:29182070	func	intronic
chr22:29182070	transcript	NM_173510
chr22:29182070	genomic	.
chr22:29182070	codon	.
chr22:29182070	protein	.
chr22:29182070	worst	intronic
chr22:29182070	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29182070	nvar	1
chr22:29182070	var	chr22:29182070:G/C
chr22:29192019	allele_ref	T
chr22:29192019	allele_alt	A
chr22:29192019	seqdb_ref	T
chr22:29192019	snp_fw_seq3	GTC/GAC
chr22:29192019	snp_rv_seq3	GAC/GTC
chr22:29192019	func	intronic,intronic
chr22:29192019	transcript	NM_001079539,NM_005080
chr22:29192019	genomic	.,.
chr22:29192019	codon	.,.
chr22:29192019	protein	.,.
chr22:29192019	worst	intronic
chr22:29192019	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29192019	nvar	1
chr22:29192019	var	chr22:29192019:T/A
chr22:29196526	allele_ref	G
chr22:29196526	allele_alt	A
chr22:29196526	seqdb_ref	G
chr22:29196526	snp_fw_seq3	CGC/CAC
chr22:29196526	snp_rv_seq3	GCG/GTG
chr22:29196526	func	5-UTR,5-UTR
chr22:29196526	transcript	NM_001079539,NM_005080
chr22:29196526	genomic	.,.
chr22:29196526	codon	.,.
chr22:29196526	protein	.,.
chr22:29196526	worst	UTR5
chr22:29196526	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=2,UTR3=0,npcRNA=0
chr22:29196526	nvar	1
chr22:29196526	var	chr22:29196526:G/A
chr22:29383196	allele_ref	A
chr22:29383196	allele_alt	G
chr22:29383196	seqdb_ref	A
chr22:29383196	snp_fw_seq3	CAC/CGC
chr22:29383196	snp_rv_seq3	GTG/GCG
chr22:29383196	func	intronic,intronic
chr22:29383196	transcript	NM_001206998,NM_032173
chr22:29383196	genomic	.,.
chr22:29383196	codon	.,.
chr22:29383196	protein	.,.
chr22:29383196	worst	intronic
chr22:29383196	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29383196	nvar	1
chr22:29383196	var	chr22:29383196:A/G
chr22:29442666	allele_ref	G
chr22:29442666	allele_alt	A
chr22:29442666	seqdb_ref	G
chr22:29442666	snp_fw_seq3	CGT/CAT
chr22:29442666	snp_rv_seq3	ACG/ATG
chr22:29442666	func	intronic,intronic
chr22:29442666	transcript	NM_001206998,NM_032173
chr22:29442666	genomic	.,.
chr22:29442666	codon	.,.
chr22:29442666	protein	.,.
chr22:29442666	worst	intronic
chr22:29442666	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29442666	nvar	1
chr22:29442666	var	chr22:29442666:G/A
chr22:29444445	allele_ref	C
chr22:29444445	allele_alt	A
chr22:29444445	seqdb_ref	C
chr22:29444445	snp_fw_seq3	ACC/AAC
chr22:29444445	snp_rv_seq3	GGT/GTT
chr22:29444445	func	missense,missense
chr22:29444445	transcript	NM_001206998,NM_032173
chr22:29444445	genomic	g.981C>A,g.681C>A
chr22:29444445	codon	c.981CAC>CAA,c.681CAC>CAA
chr22:29444445	protein	p.327H>Q,p.227H>Q
chr22:29444445	worst	missense
chr22:29444445	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29444445	nvar	1
chr22:29444445	var	chr22:29444445:C/A
chr22:29445676	allele_ref	G
chr22:29445676	allele_alt	A
chr22:29445676	seqdb_ref	G
chr22:29445676	snp_fw_seq3	CGG/CAG
chr22:29445676	snp_rv_seq3	CCG/CTG
chr22:29445676	func	missense,missense
chr22:29445676	transcript	NM_001206998,NM_032173
chr22:29445676	genomic	g.1507G>A,g.1207G>A
chr22:29445676	codon	c.1507GGC>AGC,c.1207GGC>AGC
chr22:29445676	protein	p.503G>S,p.403G>S
chr22:29445676	worst	missense
chr22:29445676	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29445676	nvar	1
chr22:29445676	var	chr22:29445676:G/A
chr22:29446403	allele_ref	C
chr22:29446403	allele_alt	T
chr22:29446403	seqdb_ref	C
chr22:29446403	snp_fw_seq3	CCG/CTG
chr22:29446403	snp_rv_seq3	CGG/CAG
chr22:29446403	func	missense,missense
chr22:29446403	transcript	NM_001206998,NM_032173
chr22:29446403	genomic	g.2234C>T,g.1934C>T
chr22:29446403	codon	c.2234CCG>CTG,c.1934CCG>CTG
chr22:29446403	protein	p.745P>L,p.645P>L
chr22:29446403	worst	missense
chr22:29446403	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29446403	nvar	1
chr22:29446403	var	chr22:29446403:C/T
chr22:29446611	allele_ref	A
chr22:29446611	allele_alt	C
chr22:29446611	seqdb_ref	A
chr22:29446611	snp_fw_seq3	CAC/CCC
chr22:29446611	snp_rv_seq3	GTG/GGG
chr22:29446611	func	silent,silent
chr22:29446611	transcript	NM_001206998,NM_032173
chr22:29446611	genomic	.,.
chr22:29446611	codon	.,.
chr22:29446611	protein	.,.
chr22:29446611	worst	silent
chr22:29446611	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29446611	nvar	1
chr22:29446611	var	chr22:29446611:A/C
chr22:29446801	allele_ref	C
chr22:29446801	allele_alt	G
chr22:29446801	seqdb_ref	C
chr22:29446801	snp_fw_seq3	GCG/GGG
chr22:29446801	snp_rv_seq3	CGC/CCC
chr22:29446801	func	missense,missense
chr22:29446801	transcript	NM_001206998,NM_032173
chr22:29446801	genomic	g.2632C>G,g.2332C>G
chr22:29446801	codon	c.2632CGG>GGG,c.2332CGG>GGG
chr22:29446801	protein	p.878R>G,p.778R>G
chr22:29446801	worst	missense
chr22:29446801	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29446801	nvar	1
chr22:29446801	var	chr22:29446801:C/G
chr22:29446975	allele_ref	T
chr22:29446975	allele_alt	C
chr22:29446975	seqdb_ref	T
chr22:29446975	snp_fw_seq3	TTC/TCC
chr22:29446975	snp_rv_seq3	GAA/GGA
chr22:29446975	func	intronic,intronic
chr22:29446975	transcript	NM_001206998,NM_032173
chr22:29446975	genomic	.,.
chr22:29446975	codon	.,.
chr22:29446975	protein	.,.
chr22:29446975	worst	intronic
chr22:29446975	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29446975	nvar	1
chr22:29446975	var	chr22:29446975:T/C
chr22:29455084	allele_ref	C
chr22:29455084	allele_alt	T
chr22:29455084	seqdb_ref	C
chr22:29455084	snp_fw_seq3	GCG/GTG
chr22:29455084	snp_rv_seq3	CGC/CAC
chr22:29455084	func	silent
chr22:29455084	transcript	NM_015370
chr22:29455084	genomic	.
chr22:29455084	codon	.
chr22:29455084	protein	.
chr22:29455084	worst	silent
chr22:29455084	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29455084	nvar	1
chr22:29455084	var	chr22:29455084:C/T
chr22:29455139	allele_ref	G
chr22:29455139	allele_alt	A
chr22:29455139	seqdb_ref	G
chr22:29455139	snp_fw_seq3	TGT/TAT
chr22:29455139	snp_rv_seq3	ACA/ATA
chr22:29455139	func	missense
chr22:29455139	transcript	NM_015370
chr22:29455139	genomic	g.464G>A
chr22:29455139	codon	c.464ACA>ATA
chr22:29455139	protein	p.155T>I
chr22:29455139	worst	missense
chr22:29455139	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29455139	nvar	1
chr22:29455139	var	chr22:29455139:G/A
chr22:29456360	allele_ref	C
chr22:29456360	allele_alt	T
chr22:29456360	seqdb_ref	C
chr22:29456360	snp_fw_seq3	TCC/TTC
chr22:29456360	snp_rv_seq3	GGA/GAA
chr22:29456360	func	intronic
chr22:29456360	transcript	NM_015370
chr22:29456360	genomic	.
chr22:29456360	codon	.
chr22:29456360	protein	.
chr22:29456360	worst	intronic
chr22:29456360	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29456360	nvar	1
chr22:29456360	var	chr22:29456360:C/T
chr22:29456699	allele_ref	A
chr22:29456699	allele_alt	G
chr22:29456699	seqdb_ref	A
chr22:29456699	snp_fw_seq3	CAT/CGT
chr22:29456699	snp_rv_seq3	ATG/ACG
chr22:29456699	func	missense
chr22:29456699	transcript	NM_015370
chr22:29456699	genomic	g.136A>G
chr22:29456699	codon	c.136TGT>CGT
chr22:29456699	protein	p.46C>R
chr22:29456699	worst	missense
chr22:29456699	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29456699	nvar	1
chr22:29456699	var	chr22:29456699:A/G
chr22:29456733	allele_ref	T
chr22:29456733	allele_alt	C
chr22:29456733	seqdb_ref	T
chr22:29456733	snp_fw_seq3	GTG/GCG
chr22:29456733	snp_rv_seq3	CAC/CGC
chr22:29456733	func	silent
chr22:29456733	transcript	NM_015370
chr22:29456733	genomic	.
chr22:29456733	codon	.
chr22:29456733	protein	.
chr22:29456733	worst	silent
chr22:29456733	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29456733	nvar	1
chr22:29456733	var	chr22:29456733:T/C
chr22:29494985	allele_ref	C
chr22:29494985	allele_alt	T
chr22:29494985	seqdb_ref	C
chr22:29494985	snp_fw_seq3	ACA/ATA
chr22:29494985	snp_rv_seq3	TGT/TAT
chr22:29494985	func	intronic,intronic
chr22:29494985	transcript	NM_001039570,NM_032045
chr22:29494985	genomic	.,.
chr22:29494985	codon	.,.
chr22:29494985	protein	.,.
chr22:29494985	worst	intronic
chr22:29494985	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29494985	nvar	1
chr22:29494985	var	chr22:29494985:C/T
chr22:29521228	allele_ref	G
chr22:29521228	allele_alt	C
chr22:29521228	seqdb_ref	G
chr22:29521228	snp_fw_seq3	TGT/TCT
chr22:29521228	snp_rv_seq3	ACA/AGA
chr22:29521228	func	intronic,intronic
chr22:29521228	transcript	NM_001039570,NM_032045
chr22:29521228	genomic	.,.
chr22:29521228	codon	.,.
chr22:29521228	protein	.,.
chr22:29521228	worst	intronic
chr22:29521228	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29521228	nvar	1
chr22:29521228	var	chr22:29521228:G/C
chr22:29521292	allele_ref	C
chr22:29521292	allele_alt	T
chr22:29521292	seqdb_ref	C
chr22:29521292	snp_fw_seq3	ACA/ATA
chr22:29521292	snp_rv_seq3	TGT/TAT
chr22:29521292	func	silent,silent
chr22:29521292	transcript	NM_001039570,NM_032045
chr22:29521292	genomic	.,.
chr22:29521292	codon	.,.
chr22:29521292	protein	.,.
chr22:29521292	worst	silent
chr22:29521292	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29521292	nvar	1
chr22:29521292	var	chr22:29521292:C/T
chr22:29533499	allele_ref	G
chr22:29533499	allele_alt	A
chr22:29533499	seqdb_ref	G
chr22:29533499	snp_fw_seq3	CGG/CAG
chr22:29533499	snp_rv_seq3	CCG/CTG
chr22:29533499	func	silent,silent
chr22:29533499	transcript	NM_001039570,NM_032045
chr22:29533499	genomic	.,.
chr22:29533499	codon	.,.
chr22:29533499	protein	.,.
chr22:29533499	worst	silent
chr22:29533499	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29533499	nvar	1
chr22:29533499	var	chr22:29533499:G/A
chr22:29533551	allele_ref	C
chr22:29533551	allele_alt	T
chr22:29533551	seqdb_ref	C
chr22:29533551	snp_fw_seq3	CCA/CTA
chr22:29533551	snp_rv_seq3	TGG/TAG
chr22:29533551	func	missense,missense
chr22:29533551	transcript	NM_001039570,NM_032045
chr22:29533551	genomic	g.853C>T,g.853C>T
chr22:29533551	codon	c.853CAC>TAC,c.853CAC>TAC
chr22:29533551	protein	p.285H>Y,p.285H>Y
chr22:29533551	worst	missense
chr22:29533551	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29533551	nvar	1
chr22:29533551	var	chr22:29533551:C/T
chr22:29533572	allele_ref	C
chr22:29533572	allele_alt	G
chr22:29533572	seqdb_ref	C
chr22:29533572	snp_fw_seq3	TCT/TGT
chr22:29533572	snp_rv_seq3	AGA/ACA
chr22:29533572	func	missense,missense
chr22:29533572	transcript	NM_001039570,NM_032045
chr22:29533572	genomic	g.874C>G,g.874C>G
chr22:29533572	codon	c.874CTG>GTG,c.874CTG>GTG
chr22:29533572	protein	p.292L>V,p.292L>V
chr22:29533572	worst	missense
chr22:29533572	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29533572	nvar	1
chr22:29533572	var	chr22:29533572:C/G
chr22:29533687	allele_ref	G
chr22:29533687	allele_alt	C
chr22:29533687	seqdb_ref	G
chr22:29533687	snp_fw_seq3	GGG/GCG
chr22:29533687	snp_rv_seq3	CCC/CGC
chr22:29533687	func	intronic,intronic
chr22:29533687	transcript	NM_001039570,NM_032045
chr22:29533687	genomic	.,.
chr22:29533687	codon	.,.
chr22:29533687	protein	.,.
chr22:29533687	worst	intronic
chr22:29533687	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29533687	nvar	1
chr22:29533687	var	chr22:29533687:G/C
chr22:29533703	allele_ref	C
chr22:29533703	allele_alt	A
chr22:29533703	seqdb_ref	C
chr22:29533703	snp_fw_seq3	ACG/AAG
chr22:29533703	snp_rv_seq3	CGT/CTT
chr22:29533703	func	intronic,intronic
chr22:29533703	transcript	NM_001039570,NM_032045
chr22:29533703	genomic	.,.
chr22:29533703	codon	.,.
chr22:29533703	protein	.,.
chr22:29533703	worst	intronic
chr22:29533703	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29533703	nvar	1
chr22:29533703	var	chr22:29533703:C/A
chr22:29534832	allele_ref	T
chr22:29534832	allele_alt	C
chr22:29534832	seqdb_ref	T
chr22:29534832	snp_fw_seq3	TTG/TCG
chr22:29534832	snp_rv_seq3	CAA/CGA
chr22:29534832	func	intronic,intronic
chr22:29534832	transcript	NM_001039570,NM_032045
chr22:29534832	genomic	.,.
chr22:29534832	codon	.,.
chr22:29534832	protein	.,.
chr22:29534832	worst	intronic
chr22:29534832	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29534832	nvar	1
chr22:29534832	var	chr22:29534832:T/C
chr22:29621128	allele_ref	C
chr22:29621128	allele_alt	G
chr22:29621128	seqdb_ref	C
chr22:29621128	snp_fw_seq3	GCT/GGT
chr22:29621128	snp_rv_seq3	AGC/ACC
chr22:29621128	func	missense
chr22:29621128	transcript	NM_133455
chr22:29621128	genomic	g.326C>G
chr22:29621128	codon	c.326GCT>GGT
chr22:29621128	protein	p.109A>G
chr22:29621128	worst	missense
chr22:29621128	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29621128	nvar	1
chr22:29621128	var	chr22:29621128:C/G
chr22:29621188	allele_ref	G
chr22:29621188	allele_alt	A
chr22:29621188	seqdb_ref	G
chr22:29621188	snp_fw_seq3	CGG/CAG
chr22:29621188	snp_rv_seq3	CCG/CTG
chr22:29621188	func	missense
chr22:29621188	transcript	NM_133455
chr22:29621188	genomic	g.386G>A
chr22:29621188	codon	c.386CGG>CAG
chr22:29621188	protein	p.129R>Q
chr22:29621188	worst	missense
chr22:29621188	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29621188	nvar	1
chr22:29621188	var	chr22:29621188:G/A
chr22:29627536	allele_ref	C
chr22:29627536	allele_alt	G
chr22:29627536	seqdb_ref	C
chr22:29627536	snp_fw_seq3	TCA/TGA
chr22:29627536	snp_rv_seq3	TGA/TCA
chr22:29627536	func	intronic
chr22:29627536	transcript	NM_133455
chr22:29627536	genomic	.
chr22:29627536	codon	.
chr22:29627536	protein	.
chr22:29627536	worst	intronic
chr22:29627536	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29627536	nvar	1
chr22:29627536	var	chr22:29627536:C/G
chr22:29628228	allele_ref	G
chr22:29628228	allele_alt	A
chr22:29628228	seqdb_ref	G
chr22:29628228	snp_fw_seq3	CGT/CAT
chr22:29628228	snp_rv_seq3	ACG/ATG
chr22:29628228	func	intronic
chr22:29628228	transcript	NM_133455
chr22:29628228	genomic	.
chr22:29628228	codon	.
chr22:29628228	protein	.
chr22:29628228	worst	intronic
chr22:29628228	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29628228	nvar	1
chr22:29628228	var	chr22:29628228:G/A
chr22:29629375	allele_ref	A
chr22:29629375	allele_alt	G
chr22:29629375	seqdb_ref	A
chr22:29629375	snp_fw_seq3	CAT/CGT
chr22:29629375	snp_rv_seq3	ATG/ACG
chr22:29629375	func	silent
chr22:29629375	transcript	NM_133455
chr22:29629375	genomic	.
chr22:29629375	codon	.
chr22:29629375	protein	.
chr22:29629375	worst	silent
chr22:29629375	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29629375	nvar	1
chr22:29629375	var	chr22:29629375:A/G
chr22:29630337	allele_ref	G
chr22:29630337	allele_alt	A
chr22:29630337	seqdb_ref	G
chr22:29630337	snp_fw_seq3	CGG/CAG
chr22:29630337	snp_rv_seq3	CCG/CTG
chr22:29630337	func	splice,missense
chr22:29630337	annot_details	DIST=-1,NMD=0,OFPTV=0,EXIN=12,ISEQ=GTAAGT,ESEQ=CAGCGG,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS12+-1G>A
chr22:29630337	transcript	NM_133455,NM_133455
chr22:29630337	genomic	.,g.1073G>A
chr22:29630337	codon	.,c.1073CGG>CAG
chr22:29630337	protein	.,p.358R>Q
chr22:29630337	worst	missense
chr22:29630337	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29630337	nvar	1
chr22:29630337	var	chr22:29630337:G/A
chr22:29630349	allele_ref	C
chr22:29630349	allele_alt	T
chr22:29630349	seqdb_ref	C
chr22:29630349	snp_fw_seq3	GCT/GTT
chr22:29630349	snp_rv_seq3	AGC/AAC
chr22:29630349	func	intronic
chr22:29630349	transcript	NM_133455
chr22:29630349	genomic	.
chr22:29630349	codon	.
chr22:29630349	protein	.
chr22:29630349	worst	intronic
chr22:29630349	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29630349	nvar	1
chr22:29630349	var	chr22:29630349:C/T
chr22:29656240	allele_ref	G
chr22:29656240	allele_alt	A
chr22:29656240	seqdb_ref	G
chr22:29656240	snp_fw_seq3	GGG/GAG
chr22:29656240	snp_rv_seq3	CCC/CTC
chr22:29656240	func	intronic
chr22:29656240	transcript	NM_012265
chr22:29656240	genomic	.
chr22:29656240	codon	.
chr22:29656240	protein	.
chr22:29656240	worst	intronic
chr22:29656240	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29656240	nvar	1
chr22:29656240	var	chr22:29656240:G/A
chr22:29656389	allele_ref	G
chr22:29656389	allele_alt	T
chr22:29656389	seqdb_ref	G
chr22:29656389	snp_fw_seq3	AGG/ATG
chr22:29656389	snp_rv_seq3	CCT/CAT
chr22:29656389	func	silent
chr22:29656389	transcript	NM_012265
chr22:29656389	genomic	.
chr22:29656389	codon	.
chr22:29656389	protein	.
chr22:29656389	worst	silent
chr22:29656389	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29656389	nvar	1
chr22:29656389	var	chr22:29656389:G/T
chr22:29659797	allele_ref	C
chr22:29659797	allele_alt	T
chr22:29659797	seqdb_ref	C
chr22:29659797	snp_fw_seq3	ACG/ATG
chr22:29659797	snp_rv_seq3	CGT/CAT
chr22:29659797	func	intronic
chr22:29659797	transcript	NM_012265
chr22:29659797	genomic	.
chr22:29659797	codon	.
chr22:29659797	protein	.
chr22:29659797	worst	intronic
chr22:29659797	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29659797	nvar	1
chr22:29659797	var	chr22:29659797:C/T
chr22:29659830	allele_ref	G
chr22:29659830	allele_alt	A
chr22:29659830	seqdb_ref	G
chr22:29659830	snp_fw_seq3	AGG/AAG
chr22:29659830	snp_rv_seq3	CCT/CTT
chr22:29659830	func	silent
chr22:29659830	transcript	NM_012265
chr22:29659830	genomic	.
chr22:29659830	codon	.
chr22:29659830	protein	.
chr22:29659830	worst	silent
chr22:29659830	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29659830	nvar	1
chr22:29659830	var	chr22:29659830:G/A
chr22:29659960	allele_ref	C
chr22:29659960	allele_alt	T
chr22:29659960	seqdb_ref	C
chr22:29659960	snp_fw_seq3	CCT/CTT
chr22:29659960	snp_rv_seq3	AGG/AAG
chr22:29659960	func	silent
chr22:29659960	transcript	NM_012265
chr22:29659960	genomic	.
chr22:29659960	codon	.
chr22:29659960	protein	.
chr22:29659960	worst	silent
chr22:29659960	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29659960	nvar	1
chr22:29659960	var	chr22:29659960:C/T
chr22:29668189	allele_ref	C
chr22:29668189	allele_alt	T
chr22:29668189	seqdb_ref	C
chr22:29668189	snp_fw_seq3	TCC/TTC
chr22:29668189	snp_rv_seq3	GGA/GAA
chr22:29668189	func	intronic,intronic,intronic,intronic,intronic
chr22:29668189	transcript	NM_001163285,NM_001163286,NM_001163287,NM_005243,NM_013986
chr22:29668189	genomic	.,.,.,.,.
chr22:29668189	codon	.,.,.,.,.
chr22:29668189	protein	.,.,.,.,.
chr22:29668189	worst	intronic
chr22:29668189	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29668189	nvar	1
chr22:29668189	var	chr22:29668189:C/T
chr22:29668199	allele_ref	C
chr22:29668199	allele_alt	T
chr22:29668199	seqdb_ref	C
chr22:29668199	snp_fw_seq3	CCT/CTT
chr22:29668199	snp_rv_seq3	AGG/AAG
chr22:29668199	func	intronic,intronic,intronic,intronic,intronic
chr22:29668199	transcript	NM_001163285,NM_001163286,NM_001163287,NM_005243,NM_013986
chr22:29668199	genomic	.,.,.,.,.
chr22:29668199	codon	.,.,.,.,.
chr22:29668199	protein	.,.,.,.,.
chr22:29668199	worst	intronic
chr22:29668199	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29668199	nvar	1
chr22:29668199	var	chr22:29668199:C/T
chr22:29668215	allele_ref	C
chr22:29668215	allele_alt	T
chr22:29668215	seqdb_ref	C
chr22:29668215	snp_fw_seq3	CCT/CTT
chr22:29668215	snp_rv_seq3	AGG/AAG
chr22:29668215	func	silent,silent,silent,silent,silent
chr22:29668215	transcript	NM_001163285,NM_001163286,NM_001163287,NM_005243,NM_013986
chr22:29668215	genomic	.,.,.,.,.
chr22:29668215	codon	.,.,.,.,.
chr22:29668215	protein	.,.,.,.,.
chr22:29668215	worst	silent
chr22:29668215	class	silent,NON=0,SL=0,MIS=0,SYN=5,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29668215	nvar	1
chr22:29668215	var	chr22:29668215:C/T
chr22:29669693	allele_ref	T
chr22:29669693	allele_alt	C
chr22:29669693	seqdb_ref	T
chr22:29669693	snp_fw_seq3	ATG/ACG
chr22:29669693	snp_rv_seq3	CAT/CGT
chr22:29669693	func	intronic,intronic,intronic,intronic,intronic
chr22:29669693	transcript	NM_001163285,NM_001163286,NM_001163287,NM_005243,NM_013986
chr22:29669693	genomic	.,.,.,.,.
chr22:29669693	codon	.,.,.,.,.
chr22:29669693	protein	.,.,.,.,.
chr22:29669693	worst	intronic
chr22:29669693	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29669693	nvar	1
chr22:29669693	var	chr22:29669693:T/C
chr22:29688208	allele_ref	G
chr22:29688208	allele_alt	A
chr22:29688208	seqdb_ref	G
chr22:29688208	snp_fw_seq3	GGT/GAT
chr22:29688208	snp_rv_seq3	ACC/ATC
chr22:29688208	func	intronic,intronic,intronic,intronic
chr22:29688208	transcript	NM_001163285,NM_001163286,NM_005243,NM_013986
chr22:29688208	genomic	.,.,.,.
chr22:29688208	codon	.,.,.,.
chr22:29688208	protein	.,.,.,.
chr22:29688208	worst	intronic
chr22:29688208	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29688208	nvar	1
chr22:29688208	var	chr22:29688208:G/A
chr22:29694917	allele_ref	A
chr22:29694917	allele_alt	G
chr22:29694917	seqdb_ref	A
chr22:29694917	snp_fw_seq3	TAC/TGC
chr22:29694917	snp_rv_seq3	GTA/GCA
chr22:29694917	func	intronic,intronic,intronic,intronic
chr22:29694917	transcript	NM_001163285,NM_001163286,NM_005243,NM_013986
chr22:29694917	genomic	.,.,.,.
chr22:29694917	codon	.,.,.,.
chr22:29694917	protein	.,.,.,.
chr22:29694917	worst	intronic
chr22:29694917	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29694917	nvar	1
chr22:29694917	var	chr22:29694917:A/G
chr22:29695871	allele_ref	C
chr22:29695871	allele_alt	T
chr22:29695871	seqdb_ref	C
chr22:29695871	snp_fw_seq3	CCG/CTG
chr22:29695871	snp_rv_seq3	CGG/CAG
chr22:29695871	func	intronic,intronic,intronic,intronic
chr22:29695871	transcript	NM_001163285,NM_001163286,NM_005243,NM_013986
chr22:29695871	genomic	.,.,.,.
chr22:29695871	codon	.,.,.,.
chr22:29695871	protein	.,.,.,.
chr22:29695871	worst	intronic
chr22:29695871	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29695871	nvar	1
chr22:29695871	var	chr22:29695871:C/T
chr22:29696069	allele_ref	C
chr22:29696069	allele_alt	T
chr22:29696069	seqdb_ref	C
chr22:29696069	snp_fw_seq3	TCA/TTA
chr22:29696069	snp_rv_seq3	TGA/TAA
chr22:29696069	func	intronic,intronic,intronic,intronic
chr22:29696069	transcript	NM_001163285,NM_001163286,NM_005243,NM_013986
chr22:29696069	genomic	.,.,.,.
chr22:29696069	codon	.,.,.,.
chr22:29696069	protein	.,.,.,.
chr22:29696069	worst	intronic
chr22:29696069	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29696069	nvar	1
chr22:29696069	var	chr22:29696069:C/T
chr22:29704125	allele_ref	C
chr22:29704125	allele_alt	T
chr22:29704125	seqdb_ref	C
chr22:29704125	snp_fw_seq3	GCT/GTT
chr22:29704125	snp_rv_seq3	AGC/AAC
chr22:29704125	func	silent,silent,silent
chr22:29704125	transcript	NM_006478,NM_152236,NM_152237
chr22:29704125	genomic	.,.,.
chr22:29704125	codon	.,.,.
chr22:29704125	protein	.,.,.
chr22:29704125	worst	silent
chr22:29704125	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29704125	nvar	1
chr22:29704125	var	chr22:29704125:C/T
chr22:29706560	allele_ref	C
chr22:29706560	allele_alt	T
chr22:29706560	seqdb_ref	C
chr22:29706560	snp_fw_seq3	GCG/GTG
chr22:29706560	snp_rv_seq3	CGC/CAC
chr22:29706560	func	intronic,intronic,intronic
chr22:29706560	transcript	NM_006478,NM_152236,NM_152237
chr22:29706560	genomic	.,.,.
chr22:29706560	codon	.,.,.
chr22:29706560	protein	.,.,.
chr22:29706560	worst	intronic
chr22:29706560	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29706560	nvar	1
chr22:29706560	var	chr22:29706560:C/T
chr22:29706919	allele_ref	G
chr22:29706919	allele_alt	A
chr22:29706919	seqdb_ref	G
chr22:29706919	snp_fw_seq3	CGG/CAG
chr22:29706919	snp_rv_seq3	CCG/CTG
chr22:29706919	func	missense,missense,missense
chr22:29706919	transcript	NM_006478,NM_152236,NM_152237
chr22:29706919	genomic	g.941G>A,g.941G>A,g.941G>A
chr22:29706919	codon	c.941CGG>CAG,c.941CGG>CAG,c.941CGG>CAG
chr22:29706919	protein	p.314R>Q,p.314R>Q,p.314R>Q
chr22:29706919	worst	missense
chr22:29706919	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29706919	nvar	1
chr22:29706919	var	chr22:29706919:G/A
chr22:29706927	allele_ref	C
chr22:29706927	allele_alt	G
chr22:29706927	seqdb_ref	C
chr22:29706927	snp_fw_seq3	CCG/CGG
chr22:29706927	snp_rv_seq3	CGG/CCG
chr22:29706927	func	missense,missense,missense
chr22:29706927	transcript	NM_006478,NM_152236,NM_152237
chr22:29706927	genomic	g.949C>G,g.949C>G,g.949C>G
chr22:29706927	codon	c.949CGG>GGG,c.949CGG>GGG,c.949CGG>GGG
chr22:29706927	protein	p.317R>G,p.317R>G,p.317R>G
chr22:29706927	worst	missense
chr22:29706927	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29706927	nvar	1
chr22:29706927	var	chr22:29706927:C/G
chr22:29709989	allele_ref	G
chr22:29709989	allele_alt	A
chr22:29709989	seqdb_ref	G
chr22:29709989	snp_fw_seq3	AGG/AAG
chr22:29709989	snp_rv_seq3	CCT/CTT
chr22:29709989	func	intronic,intronic
chr22:29709989	transcript	NM_001007279,NM_006477
chr22:29709989	genomic	.,.
chr22:29709989	codon	.,.
chr22:29709989	protein	.,.
chr22:29709989	worst	intronic
chr22:29709989	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29709989	nvar	1
chr22:29709989	var	chr22:29709989:G/A
chr22:29711251	allele_ref	T
chr22:29711251	allele_alt	C
chr22:29711251	seqdb_ref	T
chr22:29711251	snp_fw_seq3	GTC/GCC
chr22:29711251	snp_rv_seq3	GAC/GGC
chr22:29711251	func	5-UTR,5-UTR
chr22:29711251	transcript	NM_001007279,NM_006477
chr22:29711251	genomic	.,.
chr22:29711251	codon	.,.
chr22:29711251	protein	.,.
chr22:29711251	worst	UTR5
chr22:29711251	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=2,UTR3=0,npcRNA=0
chr22:29711251	nvar	1
chr22:29711251	var	chr22:29711251:T/C
chr22:29724792	allele_ref	T
chr22:29724792	allele_alt	C
chr22:29724792	seqdb_ref	T
chr22:29724792	snp_fw_seq3	GTG/GCG
chr22:29724792	snp_rv_seq3	CAC/CGC
chr22:29724792	func	3-UTR,3-UTR,3-UTR
chr22:29724792	transcript	NM_001127,NM_001166019,NM_145730
chr22:29724792	genomic	.,.,.
chr22:29724792	codon	.,.,.
chr22:29724792	protein	.,.,.
chr22:29724792	worst	UTR3
chr22:29724792	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=3,npcRNA=0
chr22:29724792	nvar	1
chr22:29724792	var	chr22:29724792:T/C
chr22:29727866	allele_ref	C
chr22:29727866	allele_alt	T
chr22:29727866	seqdb_ref	C
chr22:29727866	snp_fw_seq3	GCG/GTG
chr22:29727866	snp_rv_seq3	CGC/CAC
chr22:29727866	func	silent,silent,silent
chr22:29727866	transcript	NM_001127,NM_001166019,NM_145730
chr22:29727866	genomic	.,.,.
chr22:29727866	codon	.,.,.
chr22:29727866	protein	.,.,.
chr22:29727866	worst	silent
chr22:29727866	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29727866	nvar	1
chr22:29727866	var	chr22:29727866:C/T
chr22:29727886	allele_ref	T
chr22:29727886	allele_alt	C
chr22:29727886	seqdb_ref	T
chr22:29727886	snp_fw_seq3	GTG/GCG
chr22:29727886	snp_rv_seq3	CAC/CGC
chr22:29727886	func	missense,missense,missense
chr22:29727886	transcript	NM_001127,NM_001166019,NM_145730
chr22:29727886	genomic	g.2329T>C,g.2248T>C,g.2308T>C
chr22:29727886	codon	c.2329ACC>GCC,c.2248ACC>GCC,c.2308ACC>GCC
chr22:29727886	protein	p.777T>A,p.750T>A,p.770T>A
chr22:29727886	worst	missense
chr22:29727886	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29727886	nvar	1
chr22:29727886	var	chr22:29727886:T/C
chr22:29734941	allele_ref	C
chr22:29734941	allele_alt	G
chr22:29734941	seqdb_ref	C
chr22:29734941	snp_fw_seq3	TCT/TGT
chr22:29734941	snp_rv_seq3	AGA/ACA
chr22:29734941	func	intronic,intronic,intronic
chr22:29734941	transcript	NM_001127,NM_001166019,NM_145730
chr22:29734941	genomic	.,.,.
chr22:29734941	codon	.,.,.
chr22:29734941	protein	.,.,.
chr22:29734941	worst	intronic
chr22:29734941	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29734941	nvar	1
chr22:29734941	var	chr22:29734941:C/G
chr22:29734952	allele_ref	C
chr22:29734952	allele_alt	T
chr22:29734952	seqdb_ref	C
chr22:29734952	snp_fw_seq3	CCG/CTG
chr22:29734952	snp_rv_seq3	CGG/CAG
chr22:29734952	func	intronic,intronic,intronic
chr22:29734952	transcript	NM_001127,NM_001166019,NM_145730
chr22:29734952	genomic	.,.,.
chr22:29734952	codon	.,.,.
chr22:29734952	protein	.,.,.
chr22:29734952	worst	intronic
chr22:29734952	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29734952	nvar	1
chr22:29734952	var	chr22:29734952:C/T
chr22:29735065	allele_ref	C
chr22:29735065	allele_alt	T
chr22:29735065	seqdb_ref	C
chr22:29735065	snp_fw_seq3	GCT/GTT
chr22:29735065	snp_rv_seq3	AGC/AAC
chr22:29735065	func	missense,missense,missense
chr22:29735065	transcript	NM_001127,NM_001166019,NM_145730
chr22:29735065	genomic	g.2077C>T,g.2056C>T,g.2056C>T
chr22:29735065	codon	c.2077GCA>ACA,c.2056GCA>ACA,c.2056GCA>ACA
chr22:29735065	protein	p.693A>T,p.686A>T,p.686A>T
chr22:29735065	worst	missense
chr22:29735065	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29735065	nvar	1
chr22:29735065	var	chr22:29735065:C/T
chr22:29736660	allele_ref	A
chr22:29736660	allele_alt	G
chr22:29736660	seqdb_ref	A
chr22:29736660	snp_fw_seq3	CAC/CGC
chr22:29736660	snp_rv_seq3	GTG/GCG
chr22:29736660	func	silent,silent,silent
chr22:29736660	transcript	NM_001127,NM_001166019,NM_145730
chr22:29736660	genomic	.,.,.
chr22:29736660	codon	.,.,.
chr22:29736660	protein	.,.,.
chr22:29736660	worst	silent
chr22:29736660	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29736660	nvar	1
chr22:29736660	var	chr22:29736660:A/G
chr22:29737579	allele_ref	C
chr22:29737579	allele_alt	T
chr22:29737579	seqdb_ref	C
chr22:29737579	snp_fw_seq3	GCG/GTG
chr22:29737579	snp_rv_seq3	CGC/CAC
chr22:29737579	func	silent,silent,silent
chr22:29737579	transcript	NM_001127,NM_001166019,NM_145730
chr22:29737579	genomic	.,.,.
chr22:29737579	codon	.,.,.
chr22:29737579	protein	.,.,.
chr22:29737579	worst	silent
chr22:29737579	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29737579	nvar	1
chr22:29737579	var	chr22:29737579:C/T
chr22:29737788	allele_ref	G
chr22:29737788	allele_alt	C
chr22:29737788	seqdb_ref	G
chr22:29737788	snp_fw_seq3	AGC/ACC
chr22:29737788	snp_rv_seq3	GCT/GGT
chr22:29737788	func	intronic,intronic,intronic
chr22:29737788	transcript	NM_001127,NM_001166019,NM_145730
chr22:29737788	genomic	.,.,.
chr22:29737788	codon	.,.,.
chr22:29737788	protein	.,.,.
chr22:29737788	worst	intronic
chr22:29737788	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29737788	nvar	1
chr22:29737788	var	chr22:29737788:G/C
chr22:29746186	allele_ref	C
chr22:29746186	allele_alt	G
chr22:29746186	seqdb_ref	C
chr22:29746186	snp_fw_seq3	TCC/TGC
chr22:29746186	snp_rv_seq3	GGA/GCA
chr22:29746186	func	intronic,intronic,intronic
chr22:29746186	transcript	NM_001127,NM_001166019,NM_145730
chr22:29746186	genomic	.,.,.
chr22:29746186	codon	.,.,.
chr22:29746186	protein	.,.,.
chr22:29746186	worst	intronic
chr22:29746186	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29746186	nvar	1
chr22:29746186	var	chr22:29746186:C/G
chr22:29747112	allele_ref	C
chr22:29747112	allele_alt	T
chr22:29747112	seqdb_ref	C
chr22:29747112	snp_fw_seq3	TCA/TTA
chr22:29747112	snp_rv_seq3	TGA/TAA
chr22:29747112	func	intronic,intronic,intronic
chr22:29747112	transcript	NM_001127,NM_001166019,NM_145730
chr22:29747112	genomic	.,.,.
chr22:29747112	codon	.,.,.
chr22:29747112	protein	.,.,.
chr22:29747112	worst	intronic
chr22:29747112	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29747112	nvar	1
chr22:29747112	var	chr22:29747112:C/T
chr22:29747684	allele_ref	C
chr22:29747684	allele_alt	T
chr22:29747684	seqdb_ref	C
chr22:29747684	snp_fw_seq3	ACG/ATG
chr22:29747684	snp_rv_seq3	CGT/CAT
chr22:29747684	func	intronic,intronic,intronic
chr22:29747684	transcript	NM_001127,NM_001166019,NM_145730
chr22:29747684	genomic	.,.,.
chr22:29747684	codon	.,.,.
chr22:29747684	protein	.,.,.
chr22:29747684	worst	intronic
chr22:29747684	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29747684	nvar	1
chr22:29747684	var	chr22:29747684:C/T
chr22:29754770	allele_ref	T
chr22:29754770	allele_alt	C
chr22:29754770	seqdb_ref	T
chr22:29754770	snp_fw_seq3	CTC/CCC
chr22:29754770	snp_rv_seq3	GAG/GGG
chr22:29754770	func	missense,missense,missense
chr22:29754770	transcript	NM_001127,NM_001166019,NM_145730
chr22:29754770	genomic	g.470T>C,g.470T>C,g.470T>C
chr22:29754770	codon	c.470GAG>GGG,c.470GAG>GGG,c.470GAG>GGG
chr22:29754770	protein	p.157E>G,p.157E>G,p.157E>G
chr22:29754770	worst	missense
chr22:29754770	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29754770	nvar	1
chr22:29754770	var	chr22:29754770:T/C
chr22:29755803	allele_ref	G
chr22:29755803	allele_alt	A
chr22:29755803	seqdb_ref	G
chr22:29755803	snp_fw_seq3	CGT/CAT
chr22:29755803	snp_rv_seq3	ACG/ATG
chr22:29755803	func	intronic,intronic,intronic
chr22:29755803	transcript	NM_001127,NM_001166019,NM_145730
chr22:29755803	genomic	.,.,.
chr22:29755803	codon	.,.,.
chr22:29755803	protein	.,.,.
chr22:29755803	worst	intronic
chr22:29755803	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29755803	nvar	1
chr22:29755803	var	chr22:29755803:G/A
chr22:29755888	allele_ref	T
chr22:29755888	allele_alt	C
chr22:29755888	seqdb_ref	T
chr22:29755888	snp_fw_seq3	CTA/CCA
chr22:29755888	snp_rv_seq3	TAG/TGG
chr22:29755888	func	silent,silent,silent
chr22:29755888	transcript	NM_001127,NM_001166019,NM_145730
chr22:29755888	genomic	.,.,.
chr22:29755888	codon	.,.,.
chr22:29755888	protein	.,.,.
chr22:29755888	worst	silent
chr22:29755888	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29755888	nvar	1
chr22:29755888	var	chr22:29755888:T/C
chr22:29758963	allele_ref	G
chr22:29758963	allele_alt	T
chr22:29758963	seqdb_ref	G
chr22:29758963	snp_fw_seq3	AGC/ATC
chr22:29758963	snp_rv_seq3	GCT/GAT
chr22:29758963	func	intronic,intronic,intronic
chr22:29758963	transcript	NM_001127,NM_001166019,NM_145730
chr22:29758963	genomic	.,.,.
chr22:29758963	codon	.,.,.
chr22:29758963	protein	.,.,.
chr22:29758963	worst	intronic
chr22:29758963	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29758963	nvar	1
chr22:29758963	var	chr22:29758963:G/T
chr22:29834766	allele_ref	A
chr22:29834766	allele_alt	G
chr22:29834766	seqdb_ref	A
chr22:29834766	snp_fw_seq3	CAC/CGC
chr22:29834766	snp_rv_seq3	GTG/GCG
chr22:29834766	func	5-UTR,npcRNA
chr22:29834766	transcript	NM_021026,NR_002727
chr22:29834766	genomic	.,.
chr22:29834766	codon	.,.
chr22:29834766	protein	.,.
chr22:29834766	worst	UTR5
chr22:29834766	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=1
chr22:29834766	nvar	1
chr22:29834766	var	chr22:29834766:A/G
chr22:29835060	allele_ref	T
chr22:29835060	allele_alt	C
chr22:29835060	seqdb_ref	T
chr22:29835060	snp_fw_seq3	TTG/TCG
chr22:29835060	snp_rv_seq3	CAA/CGA
chr22:29835060	func	missense,npcRNA
chr22:29835060	transcript	NM_021026,NR_002727
chr22:29835060	genomic	g.280T>C,.
chr22:29835060	codon	c.280TGG>CGG,.
chr22:29835060	protein	p.94W>R,.
chr22:29835060	worst	missense
chr22:29835060	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:29835060	nvar	1
chr22:29835060	var	chr22:29835060:T/C
chr22:29835187	allele_ref	G
chr22:29835187	allele_alt	A
chr22:29835187	seqdb_ref	G
chr22:29835187	snp_fw_seq3	CGA/CAA
chr22:29835187	snp_rv_seq3	TCG/TTG
chr22:29835187	func	intronic,npcRNA
chr22:29835187	transcript	NM_021026,NR_002727
chr22:29835187	genomic	.,.
chr22:29835187	codon	.,.
chr22:29835187	protein	.,.
chr22:29835187	worst	npcRNA
chr22:29835187	class	npcRNA,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:29835187	nvar	1
chr22:29835187	var	chr22:29835187:G/A
chr22:29837537	allele_ref	T
chr22:29837537	allele_alt	C
chr22:29837537	seqdb_ref	T
chr22:29837537	snp_fw_seq3	ATG/ACG
chr22:29837537	snp_rv_seq3	CAT/CGT
chr22:29837537	func	missense,npcRNA
chr22:29837537	transcript	NM_021026,NR_002727
chr22:29837537	genomic	g.380T>C,.
chr22:29837537	codon	c.380ATG>ACG,.
chr22:29837537	protein	p.127M>T,.
chr22:29837537	worst	missense
chr22:29837537	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:29837537	nvar	1
chr22:29837537	var	chr22:29837537:T/C
chr22:29837583	allele_ref	C
chr22:29837583	allele_alt	T
chr22:29837583	seqdb_ref	C
chr22:29837583	snp_fw_seq3	ACG/ATG
chr22:29837583	snp_rv_seq3	CGT/CAT
chr22:29837583	func	silent,npcRNA
chr22:29837583	transcript	NM_021026,NR_002727
chr22:29837583	genomic	.,.
chr22:29837583	codon	.,.
chr22:29837583	protein	.,.
chr22:29837583	worst	silent
chr22:29837583	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:29837583	nvar	1
chr22:29837583	var	chr22:29837583:C/T
chr22:29837599	allele_ref	C
chr22:29837599	allele_alt	T
chr22:29837599	seqdb_ref	C
chr22:29837599	snp_fw_seq3	CCG/CTG
chr22:29837599	snp_rv_seq3	CGG/CAG
chr22:29837599	func	nonsense,npcRNA
chr22:29837599	annot_details	NMD=1,OFPTV=1,PEPSIZE=318->148,HGVS=p.R148*
chr22:29837599	transcript	NM_021026,NR_002727
chr22:29837599	genomic	g.442C>T,.
chr22:29837599	codon	c.442CGA>TGA,.
chr22:29837599	protein	p.148R>*,.
chr22:29837599	worst	nonsense
chr22:29837599	class	mixed,NON=1,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:29837599	nvar	1
chr22:29837599	var	chr22:29837599:C/T
chr22:29837884	allele_ref	C
chr22:29837884	allele_alt	T
chr22:29837884	seqdb_ref	C
chr22:29837884	snp_fw_seq3	ACA/ATA
chr22:29837884	snp_rv_seq3	TGT/TAT
chr22:29837884	func	nonsense,npcRNA
chr22:29837884	annot_details	NMD=0,OFPTV=1,PEPSIZE=318->243,HGVS=p.Q243*
chr22:29837884	transcript	NM_021026,NR_002727
chr22:29837884	genomic	g.727C>T,.
chr22:29837884	codon	c.727CAG>TAG,.
chr22:29837884	protein	p.243Q>*,.
chr22:29837884	worst	nonsense
chr22:29837884	class	mixed,NON=1,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:29837884	nvar	1
chr22:29837884	var	chr22:29837884:C/T
chr22:29837888	allele_ref	G
chr22:29837888	allele_alt	A
chr22:29837888	seqdb_ref	G
chr22:29837888	snp_fw_seq3	CGA/CAA
chr22:29837888	snp_rv_seq3	TCG/TTG
chr22:29837888	func	missense,npcRNA
chr22:29837888	transcript	NM_021026,NR_002727
chr22:29837888	genomic	g.731G>A,.
chr22:29837888	codon	c.731CGA>CAA,.
chr22:29837888	protein	p.244R>Q,.
chr22:29837888	worst	missense
chr22:29837888	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:29837888	nvar	1
chr22:29837888	var	chr22:29837888:G/A
chr22:29838088	allele_ref	G
chr22:29838088	allele_alt	T
chr22:29838088	seqdb_ref	G
chr22:29838088	snp_fw_seq3	AGT/ATT
chr22:29838088	snp_rv_seq3	ACT/AAT
chr22:29838088	func	missense,npcRNA
chr22:29838088	transcript	NM_021026,NR_002727
chr22:29838088	genomic	g.931G>T,.
chr22:29838088	codon	c.931GTC>TTC,.
chr22:29838088	protein	p.311V>F,.
chr22:29838088	worst	missense
chr22:29838088	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:29838088	nvar	1
chr22:29838088	var	chr22:29838088:G/T
chr22:29876374	allele_ref	T
chr22:29876374	allele_alt	C
chr22:29876374	seqdb_ref	T
chr22:29876374	snp_fw_seq3	CTG/CCG
chr22:29876374	snp_rv_seq3	CAG/CGG
chr22:29876374	func	silent
chr22:29876374	transcript	NM_021076
chr22:29876374	genomic	.
chr22:29876374	codon	.
chr22:29876374	protein	.
chr22:29876374	worst	silent
chr22:29876374	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29876374	nvar	1
chr22:29876374	var	chr22:29876374:T/C
chr22:29876548	allele_ref	G
chr22:29876548	allele_alt	A
chr22:29876548	seqdb_ref	G
chr22:29876548	snp_fw_seq3	AGC/AAC
chr22:29876548	snp_rv_seq3	GCT/GTT
chr22:29876548	func	silent
chr22:29876548	transcript	NM_021076
chr22:29876548	genomic	.
chr22:29876548	codon	.
chr22:29876548	protein	.
chr22:29876548	worst	silent
chr22:29876548	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29876548	nvar	1
chr22:29876548	var	chr22:29876548:G/A
chr22:29877010	allele_ref	G
chr22:29877010	allele_alt	T
chr22:29877010	seqdb_ref	G
chr22:29877010	snp_fw_seq3	CGC/CTC
chr22:29877010	snp_rv_seq3	GCG/GAG
chr22:29877010	func	silent
chr22:29877010	transcript	NM_021076
chr22:29877010	genomic	.
chr22:29877010	codon	.
chr22:29877010	protein	.
chr22:29877010	worst	silent
chr22:29877010	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29877010	nvar	1
chr22:29877010	var	chr22:29877010:G/T
chr22:29881828	allele_ref	C
chr22:29881828	allele_alt	T
chr22:29881828	seqdb_ref	C
chr22:29881828	snp_fw_seq3	CCG/CTG
chr22:29881828	snp_rv_seq3	CGG/CAG
chr22:29881828	func	silent
chr22:29881828	transcript	NM_021076
chr22:29881828	genomic	.
chr22:29881828	codon	.
chr22:29881828	protein	.
chr22:29881828	worst	silent
chr22:29881828	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29881828	nvar	1
chr22:29881828	var	chr22:29881828:C/T
chr22:29881863	allele_ref	G
chr22:29881863	allele_alt	C
chr22:29881863	seqdb_ref	G
chr22:29881863	snp_fw_seq3	GGT/GCT
chr22:29881863	snp_rv_seq3	ACC/AGC
chr22:29881863	func	intronic
chr22:29881863	transcript	NM_021076
chr22:29881863	genomic	.
chr22:29881863	codon	.
chr22:29881863	protein	.
chr22:29881863	worst	intronic
chr22:29881863	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29881863	nvar	1
chr22:29881863	var	chr22:29881863:G/C
chr22:29881877	allele_ref	T
chr22:29881877	allele_alt	G
chr22:29881877	seqdb_ref	T
chr22:29881877	snp_fw_seq3	GTG/GGG
chr22:29881877	snp_rv_seq3	CAC/CCC
chr22:29881877	func	intronic
chr22:29881877	transcript	NM_021076
chr22:29881877	genomic	.
chr22:29881877	codon	.
chr22:29881877	protein	.
chr22:29881877	worst	intronic
chr22:29881877	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29881877	nvar	1
chr22:29881877	var	chr22:29881877:T/G
chr22:29881884	allele_ref	G
chr22:29881884	allele_alt	A
chr22:29881884	seqdb_ref	G
chr22:29881884	snp_fw_seq3	TGC/TAC
chr22:29881884	snp_rv_seq3	GCA/GTA
chr22:29881884	func	intronic
chr22:29881884	transcript	NM_021076
chr22:29881884	genomic	.
chr22:29881884	codon	.
chr22:29881884	protein	.
chr22:29881884	worst	intronic
chr22:29881884	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29881884	nvar	1
chr22:29881884	var	chr22:29881884:G/A
chr22:29885075	allele_ref	G
chr22:29885075	allele_alt	A
chr22:29885075	seqdb_ref	g
chr22:29885075	snp_fw_seq3	agg/aAg
chr22:29885075	snp_rv_seq3	cct/cTt
chr22:29885075	func	silent
chr22:29885075	transcript	NM_021076
chr22:29885075	genomic	.
chr22:29885075	codon	.
chr22:29885075	protein	.
chr22:29885075	worst	silent
chr22:29885075	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29885075	nvar	1
chr22:29885075	var	chr22:29885075:G/A
chr22:29885352	allele_ref	C
chr22:29885352	allele_alt	T
chr22:29885352	seqdb_ref	C
chr22:29885352	snp_fw_seq3	TCC/TTC
chr22:29885352	snp_rv_seq3	GGA/GAA
chr22:29885352	func	missense
chr22:29885352	transcript	NM_021076
chr22:29885352	genomic	g.1723C>T
chr22:29885352	codon	c.1723CCA>TCA
chr22:29885352	protein	p.575P>S
chr22:29885352	worst	missense
chr22:29885352	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29885352	nvar	1
chr22:29885352	var	chr22:29885352:C/T
chr22:29885412	allele_ref	C
chr22:29885412	allele_alt	T
chr22:29885412	seqdb_ref	C
chr22:29885412	snp_fw_seq3	ACC/ATC
chr22:29885412	snp_rv_seq3	GGT/GAT
chr22:29885412	func	missense
chr22:29885412	transcript	NM_021076
chr22:29885412	genomic	g.1783C>T
chr22:29885412	codon	c.1783CCG>TCG
chr22:29885412	protein	p.595P>S
chr22:29885412	worst	missense
chr22:29885412	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29885412	nvar	1
chr22:29885412	var	chr22:29885412:C/T
chr22:29885473	allele_ref	C
chr22:29885473	allele_alt	T
chr22:29885473	seqdb_ref	c
chr22:29885473	snp_fw_seq3	ccg/cTg
chr22:29885473	snp_rv_seq3	cgg/cAg
chr22:29885473	func	missense
chr22:29885473	transcript	NM_021076
chr22:29885473	genomic	g.1844C>T
chr22:29885473	codon	c.1844CCG>CTG
chr22:29885473	protein	p.615P>L
chr22:29885473	worst	missense
chr22:29885473	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29885473	nvar	1
chr22:29885473	var	chr22:29885473:C/T
chr22:29885861	allele_ref	T
chr22:29885861	allele_alt	C
chr22:29885861	seqdb_ref	T
chr22:29885861	snp_fw_seq3	CTA/CCA
chr22:29885861	snp_rv_seq3	TAG/TGG
chr22:29885861	func	silent
chr22:29885861	transcript	NM_021076
chr22:29885861	genomic	.
chr22:29885861	codon	.
chr22:29885861	protein	.
chr22:29885861	worst	silent
chr22:29885861	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29885861	nvar	1
chr22:29885861	var	chr22:29885861:T/C
chr22:29885936	allele_ref	A
chr22:29885936	allele_alt	C
chr22:29885936	seqdb_ref	A
chr22:29885936	snp_fw_seq3	CAG/CCG
chr22:29885936	snp_rv_seq3	CTG/CGG
chr22:29885936	func	silent
chr22:29885936	transcript	NM_021076
chr22:29885936	genomic	.
chr22:29885936	codon	.
chr22:29885936	protein	.
chr22:29885936	worst	silent
chr22:29885936	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29885936	nvar	1
chr22:29885936	var	chr22:29885936:A/C
chr22:29886043	allele_ref	A
chr22:29886043	allele_alt	C
chr22:29886043	seqdb_ref	A
chr22:29886043	snp_fw_seq3	GAG/GCG
chr22:29886043	snp_rv_seq3	CTC/CGC
chr22:29886043	func	missense
chr22:29886043	transcript	NM_021076
chr22:29886043	genomic	g.2414A>C
chr22:29886043	codon	c.2414GAG>GCG
chr22:29886043	protein	p.805E>A
chr22:29886043	worst	missense
chr22:29886043	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29886043	nvar	1
chr22:29886043	var	chr22:29886043:A/C
chr22:29886341	allele_ref	C
chr22:29886341	allele_alt	T
chr22:29886341	seqdb_ref	C
chr22:29886341	snp_fw_seq3	CCA/CTA
chr22:29886341	snp_rv_seq3	TGG/TAG
chr22:29886341	func	silent
chr22:29886341	transcript	NM_021076
chr22:29886341	genomic	.
chr22:29886341	codon	.
chr22:29886341	protein	.
chr22:29886341	worst	silent
chr22:29886341	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29886341	nvar	1
chr22:29886341	var	chr22:29886341:C/T
chr22:29886413	allele_ref	A
chr22:29886413	allele_alt	G
chr22:29886413	seqdb_ref	A
chr22:29886413	snp_fw_seq3	TAG/TGG
chr22:29886413	snp_rv_seq3	CTA/CCA
chr22:29886413	func	silent
chr22:29886413	transcript	NM_021076
chr22:29886413	genomic	.
chr22:29886413	codon	.
chr22:29886413	protein	.
chr22:29886413	worst	silent
chr22:29886413	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29886413	nvar	1
chr22:29886413	var	chr22:29886413:A/G
chr22:29904519	allele_ref	T
chr22:29904519	allele_alt	C
chr22:29904519	seqdb_ref	T
chr22:29904519	snp_fw_seq3	ATA/ACA
chr22:29904519	snp_rv_seq3	TAT/TGT
chr22:29904519	func	intronic,intronic,intronic,intronic
chr22:29904519	transcript	NM_001002877,NM_001002878,NM_001002879,NM_003678
chr22:29904519	genomic	.,.,.,.
chr22:29904519	codon	.,.,.,.
chr22:29904519	protein	.,.,.,.
chr22:29904519	worst	intronic
chr22:29904519	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29904519	nvar	1
chr22:29904519	var	chr22:29904519:T/C
chr22:29908072	allele_ref	C
chr22:29908072	allele_alt	T
chr22:29908072	seqdb_ref	C
chr22:29908072	snp_fw_seq3	ACA/ATA
chr22:29908072	snp_rv_seq3	TGT/TAT
chr22:29908072	func	missense,missense,missense,missense
chr22:29908072	transcript	NM_001002877,NM_001002878,NM_001002879,NM_003678
chr22:29908072	genomic	g.1735C>T,g.1735C>T,g.1735C>T,g.1735C>T
chr22:29908072	codon	c.1735GTT>ATT,c.1735GTT>ATT,c.1735GTT>ATT,c.1735GTT>ATT
chr22:29908072	protein	p.579V>I,p.579V>I,p.579V>I,p.579V>I
chr22:29908072	worst	missense
chr22:29908072	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29908072	nvar	1
chr22:29908072	var	chr22:29908072:C/T
chr22:29908154	allele_ref	G
chr22:29908154	allele_alt	T
chr22:29908154	seqdb_ref	G
chr22:29908154	snp_fw_seq3	CGC/CTC
chr22:29908154	snp_rv_seq3	GCG/GAG
chr22:29908154	func	intronic,intronic,intronic,intronic
chr22:29908154	transcript	NM_001002877,NM_001002878,NM_001002879,NM_003678
chr22:29908154	genomic	.,.,.,.
chr22:29908154	codon	.,.,.,.
chr22:29908154	protein	.,.,.,.
chr22:29908154	worst	intronic
chr22:29908154	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29908154	nvar	1
chr22:29908154	var	chr22:29908154:G/T
chr22:29912968	allele_ref	T
chr22:29912968	allele_alt	C
chr22:29912968	seqdb_ref	T
chr22:29912968	snp_fw_seq3	TTC/TCC
chr22:29912968	snp_rv_seq3	GAA/GGA
chr22:29912968	func	intronic,intronic,intronic,intronic
chr22:29912968	transcript	NM_001002877,NM_001002878,NM_001002879,NM_003678
chr22:29912968	genomic	.,.,.,.
chr22:29912968	codon	.,.,.,.
chr22:29912968	protein	.,.,.,.
chr22:29912968	worst	intronic
chr22:29912968	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29912968	nvar	1
chr22:29912968	var	chr22:29912968:T/C
chr22:29912993	allele_ref	C
chr22:29912993	allele_alt	T
chr22:29912993	seqdb_ref	C
chr22:29912993	snp_fw_seq3	ACC/ATC
chr22:29912993	snp_rv_seq3	GGT/GAT
chr22:29912993	func	intronic,intronic,intronic,intronic
chr22:29912993	transcript	NM_001002877,NM_001002878,NM_001002879,NM_003678
chr22:29912993	genomic	.,.,.,.
chr22:29912993	codon	.,.,.,.
chr22:29912993	protein	.,.,.,.
chr22:29912993	worst	intronic
chr22:29912993	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29912993	nvar	1
chr22:29912993	var	chr22:29912993:C/T
chr22:29913272	allele_ref	C
chr22:29913272	allele_alt	T
chr22:29913272	seqdb_ref	C
chr22:29913272	snp_fw_seq3	ACT/ATT
chr22:29913272	snp_rv_seq3	AGT/AAT
chr22:29913272	func	missense,missense,missense,missense
chr22:29913272	transcript	NM_001002877,NM_001002878,NM_001002879,NM_003678
chr22:29913272	genomic	g.1573C>T,g.1573C>T,g.1573C>T,g.1573C>T
chr22:29913272	codon	c.1573GTT>ATT,c.1573GTT>ATT,c.1573GTT>ATT,c.1573GTT>ATT
chr22:29913272	protein	p.525V>I,p.525V>I,p.525V>I,p.525V>I
chr22:29913272	worst	missense
chr22:29913272	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29913272	nvar	1
chr22:29913272	var	chr22:29913272:C/T
chr22:29915144	allele_ref	C
chr22:29915144	allele_alt	T
chr22:29915144	seqdb_ref	C
chr22:29915144	snp_fw_seq3	TCC/TTC
chr22:29915144	snp_rv_seq3	GGA/GAA
chr22:29915144	func	intronic,intronic,intronic,intronic
chr22:29915144	transcript	NM_001002877,NM_001002878,NM_001002879,NM_003678
chr22:29915144	genomic	.,.,.,.
chr22:29915144	codon	.,.,.,.
chr22:29915144	protein	.,.,.,.
chr22:29915144	worst	intronic
chr22:29915144	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29915144	nvar	1
chr22:29915144	var	chr22:29915144:C/T
chr22:29916963	allele_ref	G
chr22:29916963	allele_alt	A
chr22:29916963	seqdb_ref	G
chr22:29916963	snp_fw_seq3	GGA/GAA
chr22:29916963	snp_rv_seq3	TCC/TTC
chr22:29916963	func	intronic,intronic,intronic,intronic
chr22:29916963	transcript	NM_001002877,NM_001002878,NM_001002879,NM_003678
chr22:29916963	genomic	.,.,.,.
chr22:29916963	codon	.,.,.,.
chr22:29916963	protein	.,.,.,.
chr22:29916963	worst	intronic
chr22:29916963	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29916963	nvar	1
chr22:29916963	var	chr22:29916963:G/A
chr22:29924212	allele_ref	T
chr22:29924212	allele_alt	C
chr22:29924212	seqdb_ref	T
chr22:29924212	snp_fw_seq3	ATC/ACC
chr22:29924212	snp_rv_seq3	GAT/GGT
chr22:29924212	func	intronic,intronic,intronic,intronic
chr22:29924212	transcript	NM_001002877,NM_001002878,NM_001002879,NM_003678
chr22:29924212	genomic	.,.,.,.
chr22:29924212	codon	.,.,.,.
chr22:29924212	protein	.,.,.,.
chr22:29924212	worst	intronic
chr22:29924212	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29924212	nvar	1
chr22:29924212	var	chr22:29924212:T/C
chr22:29925221	allele_ref	C
chr22:29925221	allele_alt	T
chr22:29925221	seqdb_ref	C
chr22:29925221	snp_fw_seq3	ACG/ATG
chr22:29925221	snp_rv_seq3	CGT/CAT
chr22:29925221	func	silent,silent,silent,silent
chr22:29925221	transcript	NM_001002877,NM_001002878,NM_001002879,NM_003678
chr22:29925221	genomic	.,.,.,.
chr22:29925221	codon	.,.,.,.
chr22:29925221	protein	.,.,.,.
chr22:29925221	worst	silent
chr22:29925221	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29925221	nvar	1
chr22:29925221	var	chr22:29925221:C/T
chr22:29927961	allele_ref	A
chr22:29927961	allele_alt	G
chr22:29927961	seqdb_ref	A
chr22:29927961	snp_fw_seq3	CAA/CGA
chr22:29927961	snp_rv_seq3	TTG/TCG
chr22:29927961	func	intronic,intronic,intronic,intronic
chr22:29927961	transcript	NM_001002877,NM_001002878,NM_001002879,NM_003678
chr22:29927961	genomic	.,.,.,.
chr22:29927961	codon	.,.,.,.
chr22:29927961	protein	.,.,.,.
chr22:29927961	worst	intronic
chr22:29927961	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29927961	nvar	1
chr22:29927961	var	chr22:29927961:A/G
chr22:29939391	allele_ref	G
chr22:29939391	allele_alt	T
chr22:29939391	seqdb_ref	G
chr22:29939391	snp_fw_seq3	GGT/GTT
chr22:29939391	snp_rv_seq3	ACC/AAC
chr22:29939391	func	intronic,intronic,intronic,intronic
chr22:29939391	transcript	NM_001002877,NM_001002878,NM_001002879,NM_003678
chr22:29939391	genomic	.,.,.,.
chr22:29939391	codon	.,.,.,.
chr22:29939391	protein	.,.,.,.
chr22:29939391	worst	intronic
chr22:29939391	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29939391	nvar	1
chr22:29939391	var	chr22:29939391:G/T
chr22:29956742	allele_ref	G
chr22:29956742	allele_alt	A
chr22:29956742	seqdb_ref	G
chr22:29956742	snp_fw_seq3	CGT/CAT
chr22:29956742	snp_rv_seq3	ACG/ATG
chr22:29956742	func	silent,silent
chr22:29956742	transcript	NM_001202502,NM_003634
chr22:29956742	genomic	.,.
chr22:29956742	codon	.,.
chr22:29956742	protein	.,.
chr22:29956742	worst	silent
chr22:29956742	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29956742	nvar	1
chr22:29956742	var	chr22:29956742:G/A
chr22:29957117	allele_ref	A
chr22:29957117	allele_alt	C
chr22:29957117	seqdb_ref	A
chr22:29957117	snp_fw_seq3	CAG/CCG
chr22:29957117	snp_rv_seq3	CTG/CGG
chr22:29957117	func	intronic,intronic
chr22:29957117	transcript	NM_001202502,NM_003634
chr22:29957117	genomic	.,.
chr22:29957117	codon	.,.
chr22:29957117	protein	.,.
chr22:29957117	worst	intronic
chr22:29957117	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29957117	nvar	1
chr22:29957117	var	chr22:29957117:A/C
chr22:29957570	allele_ref	G
chr22:29957570	allele_alt	A
chr22:29957570	seqdb_ref	G
chr22:29957570	snp_fw_seq3	CGA/CAA
chr22:29957570	snp_rv_seq3	TCG/TTG
chr22:29957570	func	silent,silent
chr22:29957570	transcript	NM_001202502,NM_003634
chr22:29957570	genomic	.,.
chr22:29957570	codon	.,.
chr22:29957570	protein	.,.
chr22:29957570	worst	silent
chr22:29957570	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29957570	nvar	1
chr22:29957570	var	chr22:29957570:G/A
chr22:29957796	allele_ref	C
chr22:29957796	allele_alt	T
chr22:29957796	seqdb_ref	C
chr22:29957796	snp_fw_seq3	GCT/GTT
chr22:29957796	snp_rv_seq3	AGC/AAC
chr22:29957796	func	silent,silent
chr22:29957796	transcript	NM_001202502,NM_003634
chr22:29957796	genomic	.,.
chr22:29957796	codon	.,.
chr22:29957796	protein	.,.
chr22:29957796	worst	silent
chr22:29957796	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29957796	nvar	1
chr22:29957796	var	chr22:29957796:C/T
chr22:29957826	allele_ref	G
chr22:29957826	allele_alt	A
chr22:29957826	seqdb_ref	G
chr22:29957826	snp_fw_seq3	AGC/AAC
chr22:29957826	snp_rv_seq3	GCT/GTT
chr22:29957826	func	silent,silent
chr22:29957826	transcript	NM_001202502,NM_003634
chr22:29957826	genomic	.,.
chr22:29957826	codon	.,.
chr22:29957826	protein	.,.
chr22:29957826	worst	silent
chr22:29957826	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29957826	nvar	1
chr22:29957826	var	chr22:29957826:G/A
chr22:29965168	allele_ref	G
chr22:29965168	allele_alt	C
chr22:29965168	seqdb_ref	G
chr22:29965168	snp_fw_seq3	AGG/ACG
chr22:29965168	snp_rv_seq3	CCT/CGT
chr22:29965168	func	intronic,intronic
chr22:29965168	transcript	NM_001202502,NM_003634
chr22:29965168	genomic	.,.
chr22:29965168	codon	.,.
chr22:29965168	protein	.,.
chr22:29965168	worst	intronic
chr22:29965168	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29965168	nvar	1
chr22:29965168	var	chr22:29965168:G/C
chr22:29966558	allele_ref	T
chr22:29966558	allele_alt	C
chr22:29966558	seqdb_ref	T
chr22:29966558	snp_fw_seq3	GTT/GCT
chr22:29966558	snp_rv_seq3	AAC/AGC
chr22:29966558	func	intronic,intronic
chr22:29966558	transcript	NM_001202502,NM_003634
chr22:29966558	genomic	.,.
chr22:29966558	codon	.,.
chr22:29966558	protein	.,.
chr22:29966558	worst	intronic
chr22:29966558	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:29966558	nvar	1
chr22:29966558	var	chr22:29966558:T/C
chr22:30038152	allele_ref	A
chr22:30038152	allele_alt	C
chr22:30038152	seqdb_ref	A
chr22:30038152	snp_fw_seq3	CAC/CCC
chr22:30038152	snp_rv_seq3	GTG/GGG
chr22:30038152	func	intronic,intronic,intronic,intronic,intronic,intronic,intronic,intronic,intronic
chr22:30038152	transcript	NM_000268,NM_016418,NM_181825,NM_181828,NM_181829,NM_181830,NM_181831,NM_181832,NM_181833
chr22:30038152	genomic	.,.,.,.,.,.,.,.,.
chr22:30038152	codon	.,.,.,.,.,.,.,.,.
chr22:30038152	protein	.,.,.,.,.,.,.,.,.
chr22:30038152	worst	intronic
chr22:30038152	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=9,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30038152	nvar	1
chr22:30038152	var	chr22:30038152:A/C
chr22:30064290	allele_ref	A
chr22:30064290	allele_alt	G
chr22:30064290	seqdb_ref	A
chr22:30064290	snp_fw_seq3	TAT/TGT
chr22:30064290	snp_rv_seq3	ATA/ACA
chr22:30064290	func	intronic,intronic,intronic,intronic,intronic,intronic,intronic,intronic,intronic
chr22:30064290	transcript	NM_000268,NM_016418,NM_181825,NM_181828,NM_181829,NM_181830,NM_181831,NM_181832,NM_181833
chr22:30064290	genomic	.,.,.,.,.,.,.,.,.
chr22:30064290	codon	.,.,.,.,.,.,.,.,.
chr22:30064290	protein	.,.,.,.,.,.,.,.,.
chr22:30064290	worst	intronic
chr22:30064290	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=9,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30064290	nvar	1
chr22:30064290	var	chr22:30064290:A/G
chr22:30123802	allele_ref	C
chr22:30123802	allele_alt	T
chr22:30123802	seqdb_ref	C
chr22:30123802	snp_fw_seq3	ACC/ATC
chr22:30123802	snp_rv_seq3	GGT/GAT
chr22:30123802	func	intronic
chr22:30123802	transcript	NM_182527
chr22:30123802	genomic	.
chr22:30123802	codon	.
chr22:30123802	protein	.
chr22:30123802	worst	intronic
chr22:30123802	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30123802	nvar	1
chr22:30123802	var	chr22:30123802:C/T
chr22:30124614	allele_ref	A
chr22:30124614	allele_alt	T
chr22:30124614	seqdb_ref	A
chr22:30124614	snp_fw_seq3	CAC/CTC
chr22:30124614	snp_rv_seq3	GTG/GAG
chr22:30124614	func	intronic,splice
chr22:30124614	annot_details	DIST=-5,NMD=0,OFPTV=0,EXIN=3,ISEQ=CACCAG,ESEQ=GTGATG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS3+-5A>T
chr22:30124614	transcript	NM_182527,NM_182527
chr22:30124614	genomic	.,.
chr22:30124614	codon	.,.
chr22:30124614	protein	.,.
chr22:30124614	worst	splice
chr22:30124614	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30124614	nvar	1
chr22:30124614	var	chr22:30124614:A/T
chr22:30124780	allele_ref	T
chr22:30124780	allele_alt	C
chr22:30124780	seqdb_ref	T
chr22:30124780	snp_fw_seq3	CTG/CCG
chr22:30124780	snp_rv_seq3	CAG/CGG
chr22:30124780	func	intronic
chr22:30124780	transcript	NM_182527
chr22:30124780	genomic	.
chr22:30124780	codon	.
chr22:30124780	protein	.
chr22:30124780	worst	intronic
chr22:30124780	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30124780	nvar	1
chr22:30124780	var	chr22:30124780:T/C
chr22:30125596	allele_ref	C
chr22:30125596	allele_alt	T
chr22:30125596	seqdb_ref	C
chr22:30125596	snp_fw_seq3	CCG/CTG
chr22:30125596	snp_rv_seq3	CGG/CAG
chr22:30125596	func	3-UTR
chr22:30125596	transcript	NM_182527
chr22:30125596	genomic	.
chr22:30125596	codon	.
chr22:30125596	protein	.
chr22:30125596	worst	UTR3
chr22:30125596	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:30125596	nvar	1
chr22:30125596	var	chr22:30125596:C/T
chr22:30127365	allele_ref	G
chr22:30127365	allele_alt	A
chr22:30127365	seqdb_ref	G
chr22:30127365	snp_fw_seq3	GGG/GAG
chr22:30127365	snp_rv_seq3	CCC/CTC
chr22:30127365	func	intronic,intronic,3-UTR
chr22:30127365	transcript	NM_001003692,NM_019103,NM_182527
chr22:30127365	genomic	.,.,.
chr22:30127365	codon	.,.,.
chr22:30127365	protein	.,.,.
chr22:30127365	worst	UTR3
chr22:30127365	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:30127365	nvar	1
chr22:30127365	var	chr22:30127365:G/A
chr22:30127367	allele_ref	G
chr22:30127367	allele_alt	T
chr22:30127367	seqdb_ref	G
chr22:30127367	snp_fw_seq3	GGA/GTA
chr22:30127367	snp_rv_seq3	TCC/TAC
chr22:30127367	func	intronic,intronic,3-UTR
chr22:30127367	transcript	NM_001003692,NM_019103,NM_182527
chr22:30127367	genomic	.,.,.
chr22:30127367	codon	.,.,.
chr22:30127367	protein	.,.,.
chr22:30127367	worst	UTR3
chr22:30127367	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:30127367	nvar	1
chr22:30127367	var	chr22:30127367:G/T
chr22:30138497	allele_ref	G
chr22:30138497	allele_alt	A
chr22:30138497	seqdb_ref	G
chr22:30138497	snp_fw_seq3	CGG/CAG
chr22:30138497	snp_rv_seq3	CCG/CTG
chr22:30138497	func	intronic,intronic
chr22:30138497	transcript	NM_001003692,NM_019103
chr22:30138497	genomic	.,.
chr22:30138497	codon	.,.
chr22:30138497	protein	.,.
chr22:30138497	worst	intronic
chr22:30138497	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30138497	nvar	1
chr22:30138497	var	chr22:30138497:G/A
chr22:30163526	allele_ref	A
chr22:30163526	allele_alt	G
chr22:30163526	seqdb_ref	A
chr22:30163526	snp_fw_seq3	CAT/CGT
chr22:30163526	snp_rv_seq3	ATG/ACG
chr22:30163526	func	missense,missense
chr22:30163526	transcript	NM_001003684,NM_013387
chr22:30163526	genomic	g.139A>G,g.139A>G
chr22:30163526	codon	c.139ATC>GTC,c.139ATC>GTC
chr22:30163526	protein	p.47I>V,p.47I>V
chr22:30163526	worst	missense
chr22:30163526	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30163526	nvar	1
chr22:30163526	var	chr22:30163526:A/G
chr22:30189497	allele_ref	T
chr22:30189497	allele_alt	A
chr22:30189497	seqdb_ref	T
chr22:30189497	snp_fw_seq3	ATG/AAG
chr22:30189497	snp_rv_seq3	CAT/CTT
chr22:30189497	func	intronic,intronic
chr22:30189497	transcript	NM_001242906,NM_032204
chr22:30189497	genomic	.,.
chr22:30189497	codon	.,.
chr22:30189497	protein	.,.
chr22:30189497	worst	intronic
chr22:30189497	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30189497	nvar	1
chr22:30189497	var	chr22:30189497:T/A
chr22:30189592	allele_ref	C
chr22:30189592	allele_alt	T
chr22:30189592	seqdb_ref	C
chr22:30189592	snp_fw_seq3	TCG/TTG
chr22:30189592	snp_rv_seq3	CGA/CAA
chr22:30189592	func	missense,missense
chr22:30189592	transcript	NM_001242906,NM_032204
chr22:30189592	genomic	g.1534C>T,g.1762C>T
chr22:30189592	codon	c.1534GAG>AAG,c.1762GAG>AAG
chr22:30189592	protein	p.512E>K,p.588E>K
chr22:30189592	worst	missense
chr22:30189592	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30189592	nvar	1
chr22:30189592	var	chr22:30189592:C/T
chr22:30198025	allele_ref	C
chr22:30198025	allele_alt	T
chr22:30198025	seqdb_ref	C
chr22:30198025	snp_fw_seq3	CCG/CTG
chr22:30198025	snp_rv_seq3	CGG/CAG
chr22:30198025	func	missense,missense
chr22:30198025	transcript	NM_001242906,NM_032204
chr22:30198025	genomic	g.1298C>T,g.1526C>T
chr22:30198025	codon	c.1298CGG>CAG,c.1526CGG>CAG
chr22:30198025	protein	p.433R>Q,p.509R>Q
chr22:30198025	worst	missense
chr22:30198025	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30198025	nvar	1
chr22:30198025	var	chr22:30198025:C/T
chr22:30200761	allele_ref	C
chr22:30200761	allele_alt	G
chr22:30200761	seqdb_ref	C
chr22:30200761	snp_fw_seq3	TCC/TGC
chr22:30200761	snp_rv_seq3	GGA/GCA
chr22:30200761	func	missense,missense
chr22:30200761	transcript	NM_001242906,NM_032204
chr22:30200761	genomic	g.991C>G,g.1219C>G
chr22:30200761	codon	c.991GAC>CAC,c.1219GAC>CAC
chr22:30200761	protein	p.331D>H,p.407D>H
chr22:30200761	worst	missense
chr22:30200761	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30200761	nvar	1
chr22:30200761	var	chr22:30200761:C/G
chr22:30202736	allele_ref	G
chr22:30202736	allele_alt	C
chr22:30202736	seqdb_ref	G
chr22:30202736	snp_fw_seq3	AGG/ACG
chr22:30202736	snp_rv_seq3	CCT/CGT
chr22:30202736	func	intronic,intronic
chr22:30202736	transcript	NM_001242906,NM_032204
chr22:30202736	genomic	.,.
chr22:30202736	codon	.,.
chr22:30202736	protein	.,.
chr22:30202736	worst	intronic
chr22:30202736	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30202736	nvar	1
chr22:30202736	var	chr22:30202736:G/C
chr22:30202774	allele_ref	G
chr22:30202774	allele_alt	C
chr22:30202774	seqdb_ref	G
chr22:30202774	snp_fw_seq3	CGT/CCT
chr22:30202774	snp_rv_seq3	ACG/AGG
chr22:30202774	func	intronic,intronic
chr22:30202774	transcript	NM_001242906,NM_032204
chr22:30202774	genomic	.,.
chr22:30202774	codon	.,.
chr22:30202774	protein	.,.
chr22:30202774	worst	intronic
chr22:30202774	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30202774	nvar	1
chr22:30202774	var	chr22:30202774:G/C
chr22:30209369	allele_ref	T
chr22:30209369	allele_alt	C
chr22:30209369	seqdb_ref	T
chr22:30209369	snp_fw_seq3	TTA/TCA
chr22:30209369	snp_rv_seq3	TAA/TGA
chr22:30209369	func	intronic,intronic
chr22:30209369	transcript	NM_001242906,NM_032204
chr22:30209369	genomic	.,.
chr22:30209369	codon	.,.
chr22:30209369	protein	.,.
chr22:30209369	worst	intronic
chr22:30209369	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30209369	nvar	1
chr22:30209369	var	chr22:30209369:T/C
chr22:30210631	allele_ref	G
chr22:30210631	allele_alt	A
chr22:30210631	seqdb_ref	G
chr22:30210631	snp_fw_seq3	CGA/CAA
chr22:30210631	snp_rv_seq3	TCG/TTG
chr22:30210631	func	intronic,intronic
chr22:30210631	transcript	NM_001242906,NM_032204
chr22:30210631	genomic	.,.
chr22:30210631	codon	.,.
chr22:30210631	protein	.,.
chr22:30210631	worst	intronic
chr22:30210631	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30210631	nvar	1
chr22:30210631	var	chr22:30210631:G/A
chr22:30221053	allele_ref	C
chr22:30221053	allele_alt	T
chr22:30221053	seqdb_ref	C
chr22:30221053	snp_fw_seq3	CCT/CTT
chr22:30221053	snp_rv_seq3	AGG/AAG
chr22:30221053	func	intronic,intronic
chr22:30221053	transcript	NM_001242906,NM_032204
chr22:30221053	genomic	.,.
chr22:30221053	codon	.,.
chr22:30221053	protein	.,.
chr22:30221053	worst	intronic
chr22:30221053	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30221053	nvar	1
chr22:30221053	var	chr22:30221053:C/T
chr22:30221120	allele_ref	C
chr22:30221120	allele_alt	T
chr22:30221120	seqdb_ref	C
chr22:30221120	snp_fw_seq3	ACA/ATA
chr22:30221120	snp_rv_seq3	TGT/TAT
chr22:30221120	func	missense,missense
chr22:30221120	transcript	NM_001242906,NM_032204
chr22:30221120	genomic	g.208C>T,g.367C>T
chr22:30221120	codon	c.208GTT>ATT,c.367GTT>ATT
chr22:30221120	protein	p.70V>I,p.123V>I
chr22:30221120	worst	missense
chr22:30221120	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30221120	nvar	1
chr22:30221120	var	chr22:30221120:C/T
chr22:30221177	allele_ref	C
chr22:30221177	allele_alt	T
chr22:30221177	seqdb_ref	C
chr22:30221177	snp_fw_seq3	TCG/TTG
chr22:30221177	snp_rv_seq3	CGA/CAA
chr22:30221177	func	missense,missense
chr22:30221177	transcript	NM_001242906,NM_032204
chr22:30221177	genomic	g.151C>T,g.310C>T
chr22:30221177	codon	c.151GAG>AAG,c.310GAG>AAG
chr22:30221177	protein	p.51E>K,p.104E>K
chr22:30221177	worst	missense
chr22:30221177	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30221177	nvar	1
chr22:30221177	var	chr22:30221177:C/T
chr22:30221201	allele_ref	G
chr22:30221201	allele_alt	A
chr22:30221201	seqdb_ref	G
chr22:30221201	snp_fw_seq3	CGC/CAC
chr22:30221201	snp_rv_seq3	GCG/GTG
chr22:30221201	func	missense,missense
chr22:30221201	transcript	NM_001242906,NM_032204
chr22:30221201	genomic	g.127G>A,g.286G>A
chr22:30221201	codon	c.127CGC>TGC,c.286CGC>TGC
chr22:30221201	protein	p.43R>C,p.96R>C
chr22:30221201	worst	missense
chr22:30221201	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30221201	nvar	1
chr22:30221201	var	chr22:30221201:G/A
chr22:30228227	allele_ref	G
chr22:30228227	allele_alt	A
chr22:30228227	seqdb_ref	G
chr22:30228227	snp_fw_seq3	CGG/CAG
chr22:30228227	snp_rv_seq3	CCG/CTG
chr22:30228227	func	intronic,intronic
chr22:30228227	transcript	NM_001242906,NM_032204
chr22:30228227	genomic	.,.
chr22:30228227	codon	.,.
chr22:30228227	protein	.,.
chr22:30228227	worst	intronic
chr22:30228227	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30228227	nvar	1
chr22:30228227	var	chr22:30228227:G/A
chr22:30367014	allele_ref	A
chr22:30367014	allele_alt	T
chr22:30367014	seqdb_ref	A
chr22:30367014	snp_fw_seq3	GAC/GTC
chr22:30367014	snp_rv_seq3	GTC/GAC
chr22:30367014	func	5-UTR,5-UTR,5-UTR
chr22:30367014	transcript	NM_021090,NM_153050,NM_153051
chr22:30367014	genomic	.,.,.
chr22:30367014	codon	.,.,.
chr22:30367014	protein	.,.,.
chr22:30367014	worst	UTR5
chr22:30367014	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=3,UTR3=0,npcRNA=0
chr22:30367014	nvar	1
chr22:30367014	var	chr22:30367014:A/T
chr22:30374555	allele_ref	A
chr22:30374555	allele_alt	G
chr22:30374555	seqdb_ref	A
chr22:30374555	snp_fw_seq3	TAT/TGT
chr22:30374555	snp_rv_seq3	ATA/ACA
chr22:30374555	func	intronic,intronic,intronic
chr22:30374555	transcript	NM_021090,NM_153050,NM_153051
chr22:30374555	genomic	.,.,.
chr22:30374555	codon	.,.,.
chr22:30374555	protein	.,.,.
chr22:30374555	worst	intronic
chr22:30374555	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30374555	nvar	1
chr22:30374555	var	chr22:30374555:A/G
chr22:30374920	allele_ref	C
chr22:30374920	allele_alt	T
chr22:30374920	seqdb_ref	C
chr22:30374920	snp_fw_seq3	TCG/TTG
chr22:30374920	snp_rv_seq3	CGA/CAA
chr22:30374920	func	intronic,splice,intronic,splice,intronic,splice
chr22:30374920	annot_details	DIST=-5,NMD=0,OFPTV=1,EXIN=5,ISEQ=TCGAAG,ESEQ=GTTCCT,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS5+-5C>T,DIST=-5,NMD=0,OFPTV=1,EXIN=5,ISEQ=TCGAAG,ESEQ=GTTCCT,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS5+-5C>T,DIST=-5,NMD=0,OFPTV=1,EXIN=5,ISEQ=TCGAAG,ESEQ=GTTCCT,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS5+-5C>T
chr22:30374920	transcript	NM_021090,NM_021090,NM_153050,NM_153050,NM_153051,NM_153051
chr22:30374920	genomic	.,.,.,.,.,.
chr22:30374920	codon	.,.,.,.,.,.
chr22:30374920	protein	.,.,.,.,.,.
chr22:30374920	worst	splice
chr22:30374920	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=3,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30374920	nvar	1
chr22:30374920	var	chr22:30374920:C/T
chr22:30374960	allele_ref	G
chr22:30374960	allele_alt	A
chr22:30374960	seqdb_ref	G
chr22:30374960	snp_fw_seq3	AGT/AAT
chr22:30374960	snp_rv_seq3	ACT/ATT
chr22:30374960	func	silent,silent,silent
chr22:30374960	transcript	NM_021090,NM_153050,NM_153051
chr22:30374960	genomic	.,.,.
chr22:30374960	codon	.,.,.
chr22:30374960	protein	.,.,.
chr22:30374960	worst	silent
chr22:30374960	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30374960	nvar	1
chr22:30374960	var	chr22:30374960:G/A
chr22:30384572	allele_ref	G
chr22:30384572	allele_alt	A
chr22:30384572	seqdb_ref	G
chr22:30384572	snp_fw_seq3	TGT/TAT
chr22:30384572	snp_rv_seq3	ACA/ATA
chr22:30384572	func	intronic,intronic,intronic
chr22:30384572	transcript	NM_021090,NM_153050,NM_153051
chr22:30384572	genomic	.,.,.
chr22:30384572	codon	.,.,.
chr22:30384572	protein	.,.,.
chr22:30384572	worst	intronic
chr22:30384572	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30384572	nvar	1
chr22:30384572	var	chr22:30384572:G/A
chr22:30398858	allele_ref	C
chr22:30398858	allele_alt	G
chr22:30398858	seqdb_ref	C
chr22:30398858	snp_fw_seq3	TCT/TGT
chr22:30398858	snp_rv_seq3	AGA/ACA
chr22:30398858	func	intronic,intronic,intronic
chr22:30398858	transcript	NM_021090,NM_153050,NM_153051
chr22:30398858	genomic	.,.,.
chr22:30398858	codon	.,.,.
chr22:30398858	protein	.,.,.
chr22:30398858	worst	intronic
chr22:30398858	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30398858	nvar	1
chr22:30398858	var	chr22:30398858:C/G
chr22:30399000	allele_ref	A
chr22:30399000	allele_alt	G
chr22:30399000	seqdb_ref	A
chr22:30399000	snp_fw_seq3	CAG/CGG
chr22:30399000	snp_rv_seq3	CTG/CCG
chr22:30399000	func	intronic,intronic,intronic
chr22:30399000	transcript	NM_021090,NM_153050,NM_153051
chr22:30399000	genomic	.,.,.
chr22:30399000	codon	.,.,.
chr22:30399000	protein	.,.,.
chr22:30399000	worst	intronic
chr22:30399000	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30399000	nvar	1
chr22:30399000	var	chr22:30399000:A/G
chr22:30403357	allele_ref	A
chr22:30403357	allele_alt	G
chr22:30403357	seqdb_ref	A
chr22:30403357	snp_fw_seq3	AAC/AGC
chr22:30403357	snp_rv_seq3	GTT/GCT
chr22:30403357	func	intronic,intronic,intronic
chr22:30403357	transcript	NM_021090,NM_153050,NM_153051
chr22:30403357	genomic	.,.,.
chr22:30403357	codon	.,.,.
chr22:30403357	protein	.,.,.
chr22:30403357	worst	intronic
chr22:30403357	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30403357	nvar	1
chr22:30403357	var	chr22:30403357:A/G
chr22:30403909	allele_ref	T
chr22:30403909	allele_alt	C
chr22:30403909	seqdb_ref	T
chr22:30403909	snp_fw_seq3	CTT/CCT
chr22:30403909	snp_rv_seq3	AAG/AGG
chr22:30403909	func	silent,silent,silent
chr22:30403909	transcript	NM_021090,NM_153050,NM_153051
chr22:30403909	genomic	.,.,.
chr22:30403909	codon	.,.,.
chr22:30403909	protein	.,.,.
chr22:30403909	worst	silent
chr22:30403909	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30403909	nvar	1
chr22:30403909	var	chr22:30403909:T/C
chr22:30403996	allele_ref	C
chr22:30403996	allele_alt	T
chr22:30403996	seqdb_ref	C
chr22:30403996	snp_fw_seq3	CCA/CTA
chr22:30403996	snp_rv_seq3	TGG/TAG
chr22:30403996	func	silent,silent,silent
chr22:30403996	transcript	NM_021090,NM_153050,NM_153051
chr22:30403996	genomic	.,.,.
chr22:30403996	codon	.,.,.
chr22:30403996	protein	.,.,.
chr22:30403996	worst	silent
chr22:30403996	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30403996	nvar	1
chr22:30403996	var	chr22:30403996:C/T
chr22:30405151	allele_ref	T
chr22:30405151	allele_alt	C
chr22:30405151	seqdb_ref	T
chr22:30405151	snp_fw_seq3	TTG/TCG
chr22:30405151	snp_rv_seq3	CAA/CGA
chr22:30405151	func	intronic,intronic,intronic
chr22:30405151	transcript	NM_021090,NM_153050,NM_153051
chr22:30405151	genomic	.,.,.
chr22:30405151	codon	.,.,.
chr22:30405151	protein	.,.,.
chr22:30405151	worst	intronic
chr22:30405151	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30405151	nvar	1
chr22:30405151	var	chr22:30405151:T/C
chr22:30409297	allele_ref	G
chr22:30409297	allele_alt	T
chr22:30409297	seqdb_ref	G
chr22:30409297	snp_fw_seq3	AGT/ATT
chr22:30409297	snp_rv_seq3	ACT/AAT
chr22:30409297	func	intronic,intronic,intronic
chr22:30409297	transcript	NM_021090,NM_153050,NM_153051
chr22:30409297	genomic	.,.,.
chr22:30409297	codon	.,.,.
chr22:30409297	protein	.,.,.
chr22:30409297	worst	intronic
chr22:30409297	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30409297	nvar	1
chr22:30409297	var	chr22:30409297:G/T
chr22:30413877	allele_ref	T
chr22:30413877	allele_alt	C
chr22:30413877	seqdb_ref	T
chr22:30413877	snp_fw_seq3	ATT/ACT
chr22:30413877	snp_rv_seq3	AAT/AGT
chr22:30413877	func	intronic,intronic,intronic
chr22:30413877	transcript	NM_021090,NM_153050,NM_153051
chr22:30413877	genomic	.,.,.
chr22:30413877	codon	.,.,.
chr22:30413877	protein	.,.,.
chr22:30413877	worst	intronic
chr22:30413877	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30413877	nvar	1
chr22:30413877	var	chr22:30413877:T/C
chr22:30414091	allele_ref	C
chr22:30414091	allele_alt	T
chr22:30414091	seqdb_ref	C
chr22:30414091	snp_fw_seq3	ACA/ATA
chr22:30414091	snp_rv_seq3	TGT/TAT
chr22:30414091	func	intronic,intronic,intronic
chr22:30414091	transcript	NM_021090,NM_153050,NM_153051
chr22:30414091	genomic	.,.,.
chr22:30414091	codon	.,.,.
chr22:30414091	protein	.,.,.
chr22:30414091	worst	intronic
chr22:30414091	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30414091	nvar	1
chr22:30414091	var	chr22:30414091:C/T
chr22:30415423	allele_ref	A
chr22:30415423	allele_alt	G
chr22:30415423	seqdb_ref	A
chr22:30415423	snp_fw_seq3	CAA/CGA
chr22:30415423	snp_rv_seq3	TTG/TCG
chr22:30415423	func	intronic,intronic,intronic
chr22:30415423	transcript	NM_021090,NM_153050,NM_153051
chr22:30415423	genomic	.,.,.
chr22:30415423	codon	.,.,.
chr22:30415423	protein	.,.,.
chr22:30415423	worst	intronic
chr22:30415423	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30415423	nvar	1
chr22:30415423	var	chr22:30415423:A/G
chr22:30416131	allele_ref	T
chr22:30416131	allele_alt	C
chr22:30416131	seqdb_ref	T
chr22:30416131	snp_fw_seq3	CTG/CCG
chr22:30416131	snp_rv_seq3	CAG/CGG
chr22:30416131	func	missense,missense,missense
chr22:30416131	transcript	NM_021090,NM_153050,NM_153051
chr22:30416131	genomic	g.2483T>C,g.2483T>C,g.2483T>C
chr22:30416131	codon	c.2483CTG>CCG,c.2483CTG>CCG,c.2483CTG>CCG
chr22:30416131	protein	p.828L>P,p.828L>P,p.828L>P
chr22:30416131	worst	missense
chr22:30416131	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30416131	nvar	1
chr22:30416131	var	chr22:30416131:T/C
chr22:30416292	allele_ref	C
chr22:30416292	allele_alt	T
chr22:30416292	seqdb_ref	C
chr22:30416292	snp_fw_seq3	ACC/ATC
chr22:30416292	snp_rv_seq3	GGT/GAT
chr22:30416292	func	missense,missense,missense
chr22:30416292	transcript	NM_021090,NM_153050,NM_153051
chr22:30416292	genomic	g.2644C>T,g.2644C>T,g.2644C>T
chr22:30416292	codon	c.2644CCC>TCC,c.2644CCC>TCC,c.2644CCC>TCC
chr22:30416292	protein	p.882P>S,p.882P>S,p.882P>S
chr22:30416292	worst	missense
chr22:30416292	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30416292	nvar	1
chr22:30416292	var	chr22:30416292:C/T
chr22:30416527	allele_ref	A
chr22:30416527	allele_alt	G
chr22:30416527	seqdb_ref	A
chr22:30416527	snp_fw_seq3	AAT/AGT
chr22:30416527	snp_rv_seq3	ATT/ACT
chr22:30416527	func	missense,missense,missense
chr22:30416527	transcript	NM_021090,NM_153050,NM_153051
chr22:30416527	genomic	g.2879A>G,g.2879A>G,g.2879A>G
chr22:30416527	codon	c.2879AAT>AGT,c.2879AAT>AGT,c.2879AAT>AGT
chr22:30416527	protein	p.960N>S,p.960N>S,p.960N>S
chr22:30416527	worst	missense
chr22:30416527	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30416527	nvar	1
chr22:30416527	var	chr22:30416527:A/G
chr22:30418161	allele_ref	A
chr22:30418161	allele_alt	C
chr22:30418161	seqdb_ref	A
chr22:30418161	snp_fw_seq3	CAA/CCA
chr22:30418161	snp_rv_seq3	TTG/TGG
chr22:30418161	func	intronic,intronic,intronic
chr22:30418161	transcript	NM_021090,NM_153050,NM_153051
chr22:30418161	genomic	.,.,.
chr22:30418161	codon	.,.,.
chr22:30418161	protein	.,.,.
chr22:30418161	worst	intronic
chr22:30418161	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30418161	nvar	1
chr22:30418161	var	chr22:30418161:A/C
chr22:30418173	allele_ref	T
chr22:30418173	allele_alt	G
chr22:30418173	seqdb_ref	T
chr22:30418173	snp_fw_seq3	TTT/TGT
chr22:30418173	snp_rv_seq3	AAA/ACA
chr22:30418173	func	intronic,intronic,intronic
chr22:30418173	transcript	NM_021090,NM_153050,NM_153051
chr22:30418173	genomic	.,.,.
chr22:30418173	codon	.,.,.
chr22:30418173	protein	.,.,.
chr22:30418173	worst	intronic
chr22:30418173	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30418173	nvar	1
chr22:30418173	var	chr22:30418173:T/G
chr22:30494847	allele_ref	G
chr22:30494847	allele_alt	C
chr22:30494847	seqdb_ref	G
chr22:30494847	snp_fw_seq3	AGT/ACT
chr22:30494847	snp_rv_seq3	ACT/AGT
chr22:30494847	func	missense
chr22:30494847	transcript	NM_152510
chr22:30494847	genomic	g.58G>C
chr22:30494847	codon	c.58GTT>CTT
chr22:30494847	protein	p.20V>L
chr22:30494847	worst	missense
chr22:30494847	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30494847	nvar	1
chr22:30494847	var	chr22:30494847:G/C
chr22:30494958	allele_ref	T
chr22:30494958	allele_alt	C
chr22:30494958	seqdb_ref	T
chr22:30494958	snp_fw_seq3	CTC/CCC
chr22:30494958	snp_rv_seq3	GAG/GGG
chr22:30494958	func	missense
chr22:30494958	transcript	NM_152510
chr22:30494958	genomic	g.169T>C
chr22:30494958	codon	c.169TCT>CCT
chr22:30494958	protein	p.57S>P
chr22:30494958	worst	missense
chr22:30494958	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30494958	nvar	1
chr22:30494958	var	chr22:30494958:T/C
chr22:30499486	allele_ref	G
chr22:30499486	allele_alt	A
chr22:30499486	seqdb_ref	G
chr22:30499486	snp_fw_seq3	AGA/AAA
chr22:30499486	snp_rv_seq3	TCT/TTT
chr22:30499486	func	splice,missense
chr22:30499486	annot_details	DIST=-3,NMD=0,OFPTV=1,EXIN=4,ISEQ=GTAAGT,ESEQ=CAGATG,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS4+-3G>A
chr22:30499486	transcript	NM_152510,NM_152510
chr22:30499486	genomic	.,g.254G>A
chr22:30499486	codon	.,c.254AGA>AAA
chr22:30499486	protein	.,p.85R>K
chr22:30499486	worst	missense
chr22:30499486	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30499486	nvar	1
chr22:30499486	var	chr22:30499486:G/A
chr22:30500435	allele_ref	G
chr22:30500435	allele_alt	A
chr22:30500435	seqdb_ref	G
chr22:30500435	snp_fw_seq3	TGT/TAT
chr22:30500435	snp_rv_seq3	ACA/ATA
chr22:30500435	func	intronic
chr22:30500435	transcript	NM_152510
chr22:30500435	genomic	.
chr22:30500435	codon	.
chr22:30500435	protein	.
chr22:30500435	worst	intronic
chr22:30500435	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30500435	nvar	1
chr22:30500435	var	chr22:30500435:G/A
chr22:30515049	allele_ref	T
chr22:30515049	allele_alt	C
chr22:30515049	seqdb_ref	T
chr22:30515049	snp_fw_seq3	CTG/CCG
chr22:30515049	snp_rv_seq3	CAG/CGG
chr22:30515049	func	intronic
chr22:30515049	transcript	NM_152510
chr22:30515049	genomic	.
chr22:30515049	codon	.
chr22:30515049	protein	.
chr22:30515049	worst	intronic
chr22:30515049	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30515049	nvar	1
chr22:30515049	var	chr22:30515049:T/C
chr22:30515053	allele_ref	T
chr22:30515053	allele_alt	A
chr22:30515053	seqdb_ref	T
chr22:30515053	snp_fw_seq3	TTA/TAA
chr22:30515053	snp_rv_seq3	TAA/TTA
chr22:30515053	func	intronic
chr22:30515053	transcript	NM_152510
chr22:30515053	genomic	.
chr22:30515053	codon	.
chr22:30515053	protein	.
chr22:30515053	worst	intronic
chr22:30515053	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30515053	nvar	1
chr22:30515053	var	chr22:30515053:T/A
chr22:30518233	allele_ref	G
chr22:30518233	allele_alt	A
chr22:30518233	seqdb_ref	G
chr22:30518233	snp_fw_seq3	CGT/CAT
chr22:30518233	snp_rv_seq3	ACG/ATG
chr22:30518233	func	intronic
chr22:30518233	transcript	NM_152510
chr22:30518233	genomic	.
chr22:30518233	codon	.
chr22:30518233	protein	.
chr22:30518233	worst	intronic
chr22:30518233	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30518233	nvar	1
chr22:30518233	var	chr22:30518233:G/A
chr22:30639969	allele_ref	C
chr22:30639969	allele_alt	T
chr22:30639969	seqdb_ref	C
chr22:30639969	snp_fw_seq3	GCG/GTG
chr22:30639969	snp_rv_seq3	CGC/CAC
chr22:30639969	func	missense
chr22:30639969	transcript	NM_002309
chr22:30639969	genomic	g.280C>T
chr22:30639969	codon	c.280GCC>ACC
chr22:30639969	protein	p.94A>T
chr22:30639969	worst	missense
chr22:30639969	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30639969	nvar	1
chr22:30639969	var	chr22:30639969:C/T
chr22:30659983	allele_ref	C
chr22:30659983	allele_alt	T
chr22:30659983	seqdb_ref	C
chr22:30659983	snp_fw_seq3	TCG/TTG
chr22:30659983	snp_rv_seq3	CGA/CAA
chr22:30659983	func	silent
chr22:30659983	transcript	NM_020530
chr22:30659983	genomic	.
chr22:30659983	codon	.
chr22:30659983	protein	.
chr22:30659983	worst	silent
chr22:30659983	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30659983	nvar	1
chr22:30659983	var	chr22:30659983:C/T
chr22:30683105	allele_ref	G
chr22:30683105	allele_alt	A
chr22:30683105	seqdb_ref	G
chr22:30683105	snp_fw_seq3	AGG/AAG
chr22:30683105	snp_rv_seq3	CCT/CTT
chr22:30683105	func	intronic
chr22:30683105	transcript	NM_001037666
chr22:30683105	genomic	.
chr22:30683105	codon	.
chr22:30683105	protein	.
chr22:30683105	worst	intronic
chr22:30683105	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30683105	nvar	1
chr22:30683105	var	chr22:30683105:G/A
chr22:30683285	allele_ref	C
chr22:30683285	allele_alt	G
chr22:30683285	seqdb_ref	C
chr22:30683285	snp_fw_seq3	ACA/AGA
chr22:30683285	snp_rv_seq3	TGT/TCT
chr22:30683285	func	intronic
chr22:30683285	transcript	NM_001037666
chr22:30683285	genomic	.
chr22:30683285	codon	.
chr22:30683285	protein	.
chr22:30683285	worst	intronic
chr22:30683285	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30683285	nvar	1
chr22:30683285	var	chr22:30683285:C/G
chr22:30684777	allele_ref	T
chr22:30684777	allele_alt	G
chr22:30684777	seqdb_ref	T
chr22:30684777	snp_fw_seq3	GTG/GGG
chr22:30684777	snp_rv_seq3	CAC/CCC
chr22:30684777	func	intronic
chr22:30684777	transcript	NM_001037666
chr22:30684777	genomic	.
chr22:30684777	codon	.
chr22:30684777	protein	.
chr22:30684777	worst	intronic
chr22:30684777	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30684777	nvar	1
chr22:30684777	var	chr22:30684777:T/G
chr22:30685364	allele_ref	G
chr22:30685364	allele_alt	A
chr22:30685364	seqdb_ref	G
chr22:30685364	snp_fw_seq3	CGG/CAG
chr22:30685364	snp_rv_seq3	CCG/CTG
chr22:30685364	func	intronic
chr22:30685364	transcript	NM_001037666
chr22:30685364	genomic	.
chr22:30685364	codon	.
chr22:30685364	protein	.
chr22:30685364	worst	intronic
chr22:30685364	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30685364	nvar	1
chr22:30685364	var	chr22:30685364:G/A
chr22:30688339	allele_ref	G
chr22:30688339	allele_alt	A
chr22:30688339	seqdb_ref	G
chr22:30688339	snp_fw_seq3	CGC/CAC
chr22:30688339	snp_rv_seq3	GCG/GTG
chr22:30688339	func	3-UTR,3-UTR
chr22:30688339	transcript	NM_001204240,NM_031937
chr22:30688339	genomic	.,.
chr22:30688339	codon	.,.
chr22:30688339	protein	.,.
chr22:30688339	worst	UTR3
chr22:30688339	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:30688339	nvar	1
chr22:30688339	var	chr22:30688339:G/A
chr22:30689892	allele_ref	C
chr22:30689892	allele_alt	G
chr22:30689892	seqdb_ref	C
chr22:30689892	snp_fw_seq3	CCC/CGC
chr22:30689892	snp_rv_seq3	GGG/GCG
chr22:30689892	func	intronic,intronic
chr22:30689892	transcript	NM_001204240,NM_031937
chr22:30689892	genomic	.,.
chr22:30689892	codon	.,.
chr22:30689892	protein	.,.
chr22:30689892	worst	intronic
chr22:30689892	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30689892	nvar	1
chr22:30689892	var	chr22:30689892:C/G
chr22:30690904	allele_ref	C
chr22:30690904	allele_alt	A
chr22:30690904	seqdb_ref	C
chr22:30690904	snp_fw_seq3	CCC/CAC
chr22:30690904	snp_rv_seq3	GGG/GTG
chr22:30690904	func	intronic,intronic
chr22:30690904	transcript	NM_001204240,NM_031937
chr22:30690904	genomic	.,.
chr22:30690904	codon	.,.
chr22:30690904	protein	.,.
chr22:30690904	worst	intronic
chr22:30690904	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30690904	nvar	1
chr22:30690904	var	chr22:30690904:C/A
chr22:30700607	allele_ref	T
chr22:30700607	allele_alt	G
chr22:30700607	seqdb_ref	T
chr22:30700607	snp_fw_seq3	GTA/GGA
chr22:30700607	snp_rv_seq3	TAC/TCC
chr22:30700607	func	silent,silent
chr22:30700607	transcript	NM_001204240,NM_031937
chr22:30700607	genomic	.,.
chr22:30700607	codon	.,.
chr22:30700607	protein	.,.
chr22:30700607	worst	silent
chr22:30700607	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30700607	nvar	1
chr22:30700607	var	chr22:30700607:T/G
chr22:30730572	allele_ref	G
chr22:30730572	allele_alt	T
chr22:30730572	seqdb_ref	G
chr22:30730572	snp_fw_seq3	GGT/GTT
chr22:30730572	snp_rv_seq3	ACC/AAC
chr22:30730572	func	3-UTR,3-UTR
chr22:30730572	transcript	NM_001005409,NM_005877
chr22:30730572	genomic	.,.
chr22:30730572	codon	.,.
chr22:30730572	protein	.,.
chr22:30730572	worst	UTR3
chr22:30730572	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:30730572	nvar	1
chr22:30730572	var	chr22:30730572:G/T
chr22:30730701	allele_ref	G
chr22:30730701	allele_alt	A
chr22:30730701	seqdb_ref	G
chr22:30730701	snp_fw_seq3	CGT/CAT
chr22:30730701	snp_rv_seq3	ACG/ATG
chr22:30730701	func	intronic,intronic
chr22:30730701	transcript	NM_001005409,NM_005877
chr22:30730701	genomic	.,.
chr22:30730701	codon	.,.
chr22:30730701	protein	.,.
chr22:30730701	worst	intronic
chr22:30730701	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30730701	nvar	1
chr22:30730701	var	chr22:30730701:G/A
chr22:30730711	allele_ref	A
chr22:30730711	allele_alt	G
chr22:30730711	seqdb_ref	A
chr22:30730711	snp_fw_seq3	CAT/CGT
chr22:30730711	snp_rv_seq3	ATG/ACG
chr22:30730711	func	intronic,intronic
chr22:30730711	transcript	NM_001005409,NM_005877
chr22:30730711	genomic	.,.
chr22:30730711	codon	.,.
chr22:30730711	protein	.,.
chr22:30730711	worst	intronic
chr22:30730711	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30730711	nvar	1
chr22:30730711	var	chr22:30730711:A/G
chr22:30733111	allele_ref	C
chr22:30733111	allele_alt	A
chr22:30733111	seqdb_ref	C
chr22:30733111	snp_fw_seq3	GCA/GAA
chr22:30733111	snp_rv_seq3	TGC/TTC
chr22:30733111	func	silent,silent
chr22:30733111	transcript	NM_001005409,NM_005877
chr22:30733111	genomic	.,.
chr22:30733111	codon	.,.
chr22:30733111	protein	.,.
chr22:30733111	worst	silent
chr22:30733111	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30733111	nvar	1
chr22:30733111	var	chr22:30733111:C/A
chr22:30735047	allele_ref	A
chr22:30735047	allele_alt	G
chr22:30735047	seqdb_ref	A
chr22:30735047	snp_fw_seq3	AAT/AGT
chr22:30735047	snp_rv_seq3	ATT/ACT
chr22:30735047	func	intronic,intronic
chr22:30735047	transcript	NM_001005409,NM_005877
chr22:30735047	genomic	.,.
chr22:30735047	codon	.,.
chr22:30735047	protein	.,.
chr22:30735047	worst	intronic
chr22:30735047	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30735047	nvar	1
chr22:30735047	var	chr22:30735047:A/G
chr22:30736147	allele_ref	G
chr22:30736147	allele_alt	A
chr22:30736147	seqdb_ref	G
chr22:30736147	snp_fw_seq3	CGG/CAG
chr22:30736147	snp_rv_seq3	CCG/CTG
chr22:30736147	func	intronic,intronic
chr22:30736147	transcript	NM_001005409,NM_005877
chr22:30736147	genomic	.,.
chr22:30736147	codon	.,.
chr22:30736147	protein	.,.
chr22:30736147	worst	intronic
chr22:30736147	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30736147	nvar	1
chr22:30736147	var	chr22:30736147:G/A
chr22:30736416	allele_ref	C
chr22:30736416	allele_alt	A
chr22:30736416	seqdb_ref	C
chr22:30736416	snp_fw_seq3	ACC/AAC
chr22:30736416	snp_rv_seq3	GGT/GTT
chr22:30736416	func	intronic,intronic
chr22:30736416	transcript	NM_001005409,NM_005877
chr22:30736416	genomic	.,.
chr22:30736416	codon	.,.
chr22:30736416	protein	.,.
chr22:30736416	worst	intronic
chr22:30736416	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30736416	nvar	1
chr22:30736416	var	chr22:30736416:C/A
chr22:30738161	allele_ref	C
chr22:30738161	allele_alt	T
chr22:30738161	seqdb_ref	C
chr22:30738161	snp_fw_seq3	CCA/CTA
chr22:30738161	snp_rv_seq3	TGG/TAG
chr22:30738161	func	intronic,intronic
chr22:30738161	transcript	NM_001005409,NM_005877
chr22:30738161	genomic	.,.
chr22:30738161	codon	.,.
chr22:30738161	protein	.,.
chr22:30738161	worst	intronic
chr22:30738161	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30738161	nvar	1
chr22:30738161	var	chr22:30738161:C/T
chr22:30740914	allele_ref	C
chr22:30740914	allele_alt	G
chr22:30740914	seqdb_ref	C
chr22:30740914	snp_fw_seq3	CCC/CGC
chr22:30740914	snp_rv_seq3	GGG/GCG
chr22:30740914	func	intronic,intronic
chr22:30740914	transcript	NM_001005409,NM_005877
chr22:30740914	genomic	.,.
chr22:30740914	codon	.,.
chr22:30740914	protein	.,.
chr22:30740914	worst	intronic
chr22:30740914	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30740914	nvar	1
chr22:30740914	var	chr22:30740914:C/G
chr22:30752696	allele_ref	G
chr22:30752696	allele_alt	T
chr22:30752696	seqdb_ref	G
chr22:30752696	snp_fw_seq3	GGC/GTC
chr22:30752696	snp_rv_seq3	GCC/GAC
chr22:30752696	func	intronic,5-UTR,intronic
chr22:30752696	transcript	NM_001005409,NM_001017437,NM_005877
chr22:30752696	genomic	.,.,.
chr22:30752696	codon	.,.,.
chr22:30752696	protein	.,.,.
chr22:30752696	worst	UTR5
chr22:30752696	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:30752696	nvar	1
chr22:30752696	var	chr22:30752696:G/T
chr22:30752703	allele_ref	G
chr22:30752703	allele_alt	A
chr22:30752703	seqdb_ref	G
chr22:30752703	snp_fw_seq3	GGG/GAG
chr22:30752703	snp_rv_seq3	CCC/CTC
chr22:30752703	func	intronic,5-UTR,intronic
chr22:30752703	transcript	NM_001005409,NM_001017437,NM_005877
chr22:30752703	genomic	.,.,.
chr22:30752703	codon	.,.,.
chr22:30752703	protein	.,.,.
chr22:30752703	worst	UTR5
chr22:30752703	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:30752703	nvar	1
chr22:30752703	var	chr22:30752703:G/A
chr22:30762095	allele_ref	C
chr22:30762095	allele_alt	T
chr22:30762095	seqdb_ref	C
chr22:30762095	snp_fw_seq3	GCG/GTG
chr22:30762095	snp_rv_seq3	CGC/CAC
chr22:30762095	func	missense
chr22:30762095	transcript	NM_001017437
chr22:30762095	genomic	g.106C>T
chr22:30762095	codon	c.106CGC>TGC
chr22:30762095	protein	p.36R>C
chr22:30762095	worst	missense
chr22:30762095	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30762095	nvar	1
chr22:30762095	var	chr22:30762095:C/T
chr22:30762139	allele_ref	C
chr22:30762139	allele_alt	T
chr22:30762139	seqdb_ref	C
chr22:30762139	snp_fw_seq3	TCG/TTG
chr22:30762139	snp_rv_seq3	CGA/CAA
chr22:30762139	func	silent
chr22:30762139	transcript	NM_001017437
chr22:30762139	genomic	.
chr22:30762139	codon	.
chr22:30762139	protein	.
chr22:30762139	worst	silent
chr22:30762139	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30762139	nvar	1
chr22:30762139	var	chr22:30762139:C/T
chr22:30762140	allele_ref	G
chr22:30762140	allele_alt	A
chr22:30762140	seqdb_ref	G
chr22:30762140	snp_fw_seq3	CGA/CAA
chr22:30762140	snp_rv_seq3	TCG/TTG
chr22:30762140	func	missense
chr22:30762140	transcript	NM_001017437
chr22:30762140	genomic	g.151G>A
chr22:30762140	codon	c.151GAC>AAC
chr22:30762140	protein	p.51D>N
chr22:30762140	worst	missense
chr22:30762140	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30762140	nvar	1
chr22:30762140	var	chr22:30762140:G/A
chr22:30762187	allele_ref	C
chr22:30762187	allele_alt	T
chr22:30762187	seqdb_ref	C
chr22:30762187	snp_fw_seq3	CCG/CTG
chr22:30762187	snp_rv_seq3	CGG/CAG
chr22:30762187	func	silent
chr22:30762187	transcript	NM_001017437
chr22:30762187	genomic	.
chr22:30762187	codon	.
chr22:30762187	protein	.
chr22:30762187	worst	silent
chr22:30762187	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30762187	nvar	1
chr22:30762187	var	chr22:30762187:C/T
chr22:30765502	allele_ref	G
chr22:30765502	allele_alt	A
chr22:30765502	seqdb_ref	G
chr22:30765502	snp_fw_seq3	CGG/CAG
chr22:30765502	snp_rv_seq3	CCG/CTG
chr22:30765502	func	silent,npcRNA
chr22:30765502	transcript	NM_001017437,NR_046312
chr22:30765502	genomic	.,.
chr22:30765502	codon	.,.
chr22:30765502	protein	.,.
chr22:30765502	worst	silent
chr22:30765502	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:30765502	nvar	1
chr22:30765502	var	chr22:30765502:G/A
chr22:30766466	allele_ref	C
chr22:30766466	allele_alt	T
chr22:30766466	seqdb_ref	C
chr22:30766466	snp_fw_seq3	CCT/CTT
chr22:30766466	snp_rv_seq3	AGG/AAG
chr22:30766466	func	missense,npcRNA
chr22:30766466	transcript	NM_001017437,NR_046312
chr22:30766466	genomic	g.572C>T,.
chr22:30766466	codon	c.572CCT>CTT,.
chr22:30766466	protein	p.191P>L,.
chr22:30766466	worst	missense
chr22:30766466	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:30766466	nvar	1
chr22:30766466	var	chr22:30766466:C/T
chr22:30766868	allele_ref	G
chr22:30766868	allele_alt	A
chr22:30766868	seqdb_ref	G
chr22:30766868	snp_fw_seq3	CGG/CAG
chr22:30766868	snp_rv_seq3	CCG/CTG
chr22:30766868	func	missense,npcRNA
chr22:30766868	transcript	NM_001017437,NR_046312
chr22:30766868	genomic	g.974G>A,.
chr22:30766868	codon	c.974CGG>CAG,.
chr22:30766868	protein	p.325R>Q,.
chr22:30766868	worst	missense
chr22:30766868	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:30766868	nvar	1
chr22:30766868	var	chr22:30766868:G/A
chr22:30766905	allele_ref	T
chr22:30766905	allele_alt	C
chr22:30766905	seqdb_ref	T
chr22:30766905	snp_fw_seq3	CTG/CCG
chr22:30766905	snp_rv_seq3	CAG/CGG
chr22:30766905	func	silent,npcRNA
chr22:30766905	transcript	NM_001017437,NR_046312
chr22:30766905	genomic	.,.
chr22:30766905	codon	.,.
chr22:30766905	protein	.,.
chr22:30766905	worst	silent
chr22:30766905	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:30766905	nvar	1
chr22:30766905	var	chr22:30766905:T/C
chr22:30767729	allele_ref	A
chr22:30767729	allele_alt	G
chr22:30767729	seqdb_ref	A
chr22:30767729	snp_fw_seq3	CAT/CGT
chr22:30767729	snp_rv_seq3	ATG/ACG
chr22:30767729	func	intronic,npcRNA
chr22:30767729	transcript	NM_001017437,NR_046312
chr22:30767729	genomic	.,.
chr22:30767729	codon	.,.
chr22:30767729	protein	.,.
chr22:30767729	worst	npcRNA
chr22:30767729	class	npcRNA,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:30767729	nvar	1
chr22:30767729	var	chr22:30767729:A/G
chr22:30769901	allele_ref	G
chr22:30769901	allele_alt	C
chr22:30769901	seqdb_ref	G
chr22:30769901	snp_fw_seq3	CGT/CCT
chr22:30769901	snp_rv_seq3	ACG/AGG
chr22:30769901	func	intronic,npcRNA
chr22:30769901	transcript	NM_001017437,NR_046312
chr22:30769901	genomic	.,.
chr22:30769901	codon	.,.
chr22:30769901	protein	.,.
chr22:30769901	worst	npcRNA
chr22:30769901	class	npcRNA,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:30769901	nvar	1
chr22:30769901	var	chr22:30769901:G/C
chr22:30769906	allele_ref	T
chr22:30769906	allele_alt	C
chr22:30769906	seqdb_ref	T
chr22:30769906	snp_fw_seq3	GTC/GCC
chr22:30769906	snp_rv_seq3	GAC/GGC
chr22:30769906	func	intronic,npcRNA
chr22:30769906	transcript	NM_001017437,NR_046312
chr22:30769906	genomic	.,.
chr22:30769906	codon	.,.
chr22:30769906	protein	.,.
chr22:30769906	worst	npcRNA
chr22:30769906	class	npcRNA,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:30769906	nvar	1
chr22:30769906	var	chr22:30769906:T/C
chr22:30771458	allele_ref	T
chr22:30771458	allele_alt	C
chr22:30771458	seqdb_ref	T
chr22:30771458	snp_fw_seq3	ATT/ACT
chr22:30771458	snp_rv_seq3	AAT/AGT
chr22:30771458	func	intronic,npcRNA
chr22:30771458	transcript	NM_001017437,NR_046312
chr22:30771458	genomic	.,.
chr22:30771458	codon	.,.
chr22:30771458	protein	.,.
chr22:30771458	worst	npcRNA
chr22:30771458	class	npcRNA,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:30771458	nvar	1
chr22:30771458	var	chr22:30771458:T/C
chr22:30771554	allele_ref	T
chr22:30771554	allele_alt	G
chr22:30771554	seqdb_ref	T
chr22:30771554	snp_fw_seq3	GTC/GGC
chr22:30771554	snp_rv_seq3	GAC/GCC
chr22:30771554	func	missense,npcRNA
chr22:30771554	transcript	NM_001017437,NR_046312
chr22:30771554	genomic	g.1759T>G,.
chr22:30771554	codon	c.1759TCC>GCC,.
chr22:30771554	protein	p.587S>A,.
chr22:30771554	worst	missense
chr22:30771554	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:30771554	nvar	1
chr22:30771554	var	chr22:30771554:T/G
chr22:30772457	allele_ref	C
chr22:30772457	allele_alt	G
chr22:30772457	seqdb_ref	C
chr22:30772457	snp_fw_seq3	ACG/AGG
chr22:30772457	snp_rv_seq3	CGT/CCT
chr22:30772457	func	missense,intronic
chr22:30772457	transcript	NM_001017437,NR_046312
chr22:30772457	genomic	g.1982C>G,.
chr22:30772457	codon	c.1982ACG>AGG,.
chr22:30772457	protein	p.661T>R,.
chr22:30772457	worst	missense
chr22:30772457	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30772457	nvar	1
chr22:30772457	var	chr22:30772457:C/G
chr22:30772504	allele_ref	C
chr22:30772504	allele_alt	T
chr22:30772504	seqdb_ref	C
chr22:30772504	snp_fw_seq3	GCC/GTC
chr22:30772504	snp_rv_seq3	GGC/GAC
chr22:30772504	func	missense,intronic
chr22:30772504	transcript	NM_001017437,NR_046312
chr22:30772504	genomic	g.2029C>T,.
chr22:30772504	codon	c.2029CCC>TCC,.
chr22:30772504	protein	p.677P>S,.
chr22:30772504	worst	missense
chr22:30772504	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30772504	nvar	1
chr22:30772504	var	chr22:30772504:C/T
chr22:30772680	allele_ref	A
chr22:30772680	allele_alt	G
chr22:30772680	seqdb_ref	A
chr22:30772680	snp_fw_seq3	CAC/CGC
chr22:30772680	snp_rv_seq3	GTG/GCG
chr22:30772680	func	silent,intronic
chr22:30772680	transcript	NM_001017437,NR_046312
chr22:30772680	genomic	.,.
chr22:30772680	codon	.,.
chr22:30772680	protein	.,.
chr22:30772680	worst	silent
chr22:30772680	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30772680	nvar	1
chr22:30772680	var	chr22:30772680:A/G
chr22:30772686	allele_ref	C
chr22:30772686	allele_alt	T
chr22:30772686	seqdb_ref	C
chr22:30772686	snp_fw_seq3	GCC/GTC
chr22:30772686	snp_rv_seq3	GGC/GAC
chr22:30772686	func	silent,intronic
chr22:30772686	transcript	NM_001017437,NR_046312
chr22:30772686	genomic	.,.
chr22:30772686	codon	.,.
chr22:30772686	protein	.,.
chr22:30772686	worst	silent
chr22:30772686	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30772686	nvar	1
chr22:30772686	var	chr22:30772686:C/T
chr22:30772687	allele_ref	C
chr22:30772687	allele_alt	T
chr22:30772687	seqdb_ref	C
chr22:30772687	snp_fw_seq3	CCG/CTG
chr22:30772687	snp_rv_seq3	CGG/CAG
chr22:30772687	func	missense,intronic
chr22:30772687	transcript	NM_001017437,NR_046312
chr22:30772687	genomic	g.2212C>T,.
chr22:30772687	codon	c.2212CGG>TGG,.
chr22:30772687	protein	p.738R>W,.
chr22:30772687	worst	missense
chr22:30772687	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30772687	nvar	1
chr22:30772687	var	chr22:30772687:C/T
chr22:30775675	allele_ref	G
chr22:30775675	allele_alt	A
chr22:30775675	seqdb_ref	G
chr22:30775675	snp_fw_seq3	CGA/CAA
chr22:30775675	snp_rv_seq3	TCG/TTG
chr22:30775675	func	intronic
chr22:30775675	transcript	NM_001017981
chr22:30775675	genomic	.
chr22:30775675	codon	.
chr22:30775675	protein	.
chr22:30775675	worst	intronic
chr22:30775675	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30775675	nvar	1
chr22:30775675	var	chr22:30775675:G/A
chr22:30775694	allele_ref	G
chr22:30775694	allele_alt	A
chr22:30775694	seqdb_ref	G
chr22:30775694	snp_fw_seq3	TGC/TAC
chr22:30775694	snp_rv_seq3	GCA/GTA
chr22:30775694	func	intronic
chr22:30775694	transcript	NM_001017981
chr22:30775694	genomic	.
chr22:30775694	codon	.
chr22:30775694	protein	.
chr22:30775694	worst	intronic
chr22:30775694	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30775694	nvar	1
chr22:30775694	var	chr22:30775694:G/A
chr22:30776095	allele_ref	C
chr22:30776095	allele_alt	T
chr22:30776095	seqdb_ref	C
chr22:30776095	snp_fw_seq3	GCA/GTA
chr22:30776095	snp_rv_seq3	TGC/TAC
chr22:30776095	func	missense
chr22:30776095	transcript	NM_001017981
chr22:30776095	genomic	g.964C>T
chr22:30776095	codon	c.964GCT>ACT
chr22:30776095	protein	p.322A>T
chr22:30776095	worst	missense
chr22:30776095	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30776095	nvar	1
chr22:30776095	var	chr22:30776095:C/T
chr22:30776419	allele_ref	T
chr22:30776419	allele_alt	C
chr22:30776419	seqdb_ref	T
chr22:30776419	snp_fw_seq3	ATG/ACG
chr22:30776419	snp_rv_seq3	CAT/CGT
chr22:30776419	func	intronic
chr22:30776419	transcript	NM_001017981
chr22:30776419	genomic	.
chr22:30776419	codon	.
chr22:30776419	protein	.
chr22:30776419	worst	intronic
chr22:30776419	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30776419	nvar	1
chr22:30776419	var	chr22:30776419:T/C
chr22:30782089	allele_ref	A
chr22:30782089	allele_alt	G
chr22:30782089	seqdb_ref	A
chr22:30782089	snp_fw_seq3	GAA/GGA
chr22:30782089	snp_rv_seq3	TTC/TCC
chr22:30782089	func	silent
chr22:30782089	transcript	NM_001017981
chr22:30782089	genomic	.
chr22:30782089	codon	.
chr22:30782089	protein	.
chr22:30782089	worst	silent
chr22:30782089	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30782089	nvar	1
chr22:30782089	var	chr22:30782089:A/G
chr22:30782722	allele_ref	C
chr22:30782722	allele_alt	T
chr22:30782722	seqdb_ref	C
chr22:30782722	snp_fw_seq3	CCT/CTT
chr22:30782722	snp_rv_seq3	AGG/AAG
chr22:30782722	func	silent
chr22:30782722	transcript	NM_001017981
chr22:30782722	genomic	.
chr22:30782722	codon	.
chr22:30782722	protein	.
chr22:30782722	worst	silent
chr22:30782722	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30782722	nvar	1
chr22:30782722	var	chr22:30782722:C/T
chr22:30782731	allele_ref	G
chr22:30782731	allele_alt	A
chr22:30782731	seqdb_ref	G
chr22:30782731	snp_fw_seq3	CGG/CAG
chr22:30782731	snp_rv_seq3	CCG/CTG
chr22:30782731	func	silent
chr22:30782731	transcript	NM_001017981
chr22:30782731	genomic	.
chr22:30782731	codon	.
chr22:30782731	protein	.
chr22:30782731	worst	silent
chr22:30782731	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30782731	nvar	1
chr22:30782731	var	chr22:30782731:G/A
chr22:30793137	allele_ref	G
chr22:30793137	allele_alt	A
chr22:30793137	seqdb_ref	G
chr22:30793137	snp_fw_seq3	AGG/AAG
chr22:30793137	snp_rv_seq3	CCT/CTT
chr22:30793137	func	missense,missense,missense
chr22:30793137	transcript	NM_001204204,NM_012429,NM_033382
chr22:30793137	genomic	g.32G>A,g.32G>A,g.32G>A
chr22:30793137	codon	c.32AGG>AAG,c.32AGG>AAG,c.32AGG>AAG
chr22:30793137	protein	p.11R>K,p.11R>K,p.11R>K
chr22:30793137	worst	missense
chr22:30793137	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30793137	nvar	1
chr22:30793137	var	chr22:30793137:G/A
chr22:30803114	allele_ref	G
chr22:30803114	allele_alt	A
chr22:30803114	seqdb_ref	G
chr22:30803114	snp_fw_seq3	TGA/TAA
chr22:30803114	snp_rv_seq3	TCA/TTA
chr22:30803114	func	intronic,missense,missense
chr22:30803114	transcript	NM_001204204,NM_012429,NM_033382
chr22:30803114	genomic	.,g.205G>A,g.205G>A
chr22:30803114	codon	.,c.205GAC>AAC,c.205GAC>AAC
chr22:30803114	protein	.,p.69D>N,p.69D>N
chr22:30803114	worst	missense
chr22:30803114	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30803114	nvar	1
chr22:30803114	var	chr22:30803114:G/A
chr22:30803123	allele_ref	A
chr22:30803123	allele_alt	G
chr22:30803123	seqdb_ref	A
chr22:30803123	snp_fw_seq3	CAT/CGT
chr22:30803123	snp_rv_seq3	ATG/ACG
chr22:30803123	func	intronic,missense,missense
chr22:30803123	transcript	NM_001204204,NM_012429,NM_033382
chr22:30803123	genomic	.,g.214A>G,g.214A>G
chr22:30803123	codon	.,c.214ATT>GTT,c.214ATT>GTT
chr22:30803123	protein	.,p.72I>V,p.72I>V
chr22:30803123	worst	missense
chr22:30803123	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30803123	nvar	1
chr22:30803123	var	chr22:30803123:A/G
chr22:30803159	allele_ref	C
chr22:30803159	allele_alt	T
chr22:30803159	seqdb_ref	C
chr22:30803159	snp_fw_seq3	TCC/TTC
chr22:30803159	snp_rv_seq3	GGA/GAA
chr22:30803159	func	intronic,intronic,intronic
chr22:30803159	transcript	NM_001204204,NM_012429,NM_033382
chr22:30803159	genomic	.,.,.
chr22:30803159	codon	.,.,.
chr22:30803159	protein	.,.,.
chr22:30803159	worst	intronic
chr22:30803159	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30803159	nvar	1
chr22:30803159	var	chr22:30803159:C/T
chr22:30803579	allele_ref	A
chr22:30803579	allele_alt	G
chr22:30803579	seqdb_ref	A
chr22:30803579	snp_fw_seq3	CAC/CGC
chr22:30803579	snp_rv_seq3	GTG/GCG
chr22:30803579	func	intronic,missense,missense
chr22:30803579	transcript	NM_001204204,NM_012429,NM_033382
chr22:30803579	genomic	.,g.410A>G,g.410A>G
chr22:30803579	codon	.,c.410CAC>CGC,c.410CAC>CGC
chr22:30803579	protein	.,p.137H>R,p.137H>R
chr22:30803579	worst	missense
chr22:30803579	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30803579	nvar	1
chr22:30803579	var	chr22:30803579:A/G
chr22:30803627	allele_ref	C
chr22:30803627	allele_alt	T
chr22:30803627	seqdb_ref	C
chr22:30803627	snp_fw_seq3	CCA/CTA
chr22:30803627	snp_rv_seq3	TGG/TAG
chr22:30803627	func	intronic,intronic,intronic
chr22:30803627	transcript	NM_001204204,NM_012429,NM_033382
chr22:30803627	genomic	.,.,.
chr22:30803627	codon	.,.,.
chr22:30803627	protein	.,.,.
chr22:30803627	worst	intronic
chr22:30803627	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30803627	nvar	1
chr22:30803627	var	chr22:30803627:C/T
chr22:30822813	allele_ref	A
chr22:30822813	allele_alt	G
chr22:30822813	seqdb_ref	A
chr22:30822813	snp_fw_seq3	AAA/AGA
chr22:30822813	snp_rv_seq3	TTT/TCT
chr22:30822813	func	missense,missense
chr22:30822813	transcript	NM_001003704,NM_016498
chr22:30822813	genomic	g.176A>G,g.176A>G
chr22:30822813	codon	c.176AAA>AGA,c.176AAA>AGA
chr22:30822813	protein	p.59K>R,p.59K>R
chr22:30822813	worst	missense
chr22:30822813	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30822813	nvar	1
chr22:30822813	var	chr22:30822813:A/G
chr22:30823113	allele_ref	T
chr22:30823113	allele_alt	G
chr22:30823113	seqdb_ref	T
chr22:30823113	snp_fw_seq3	TTT/TGT
chr22:30823113	snp_rv_seq3	AAA/ACA
chr22:30823113	func	intronic,intronic
chr22:30823113	transcript	NM_001003704,NM_016498
chr22:30823113	genomic	.,.
chr22:30823113	codon	.,.
chr22:30823113	protein	.,.
chr22:30823113	worst	intronic
chr22:30823113	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30823113	nvar	1
chr22:30823113	var	chr22:30823113:T/G
chr22:30823133	allele_ref	G
chr22:30823133	allele_alt	A
chr22:30823133	seqdb_ref	G
chr22:30823133	snp_fw_seq3	GGA/GAA
chr22:30823133	snp_rv_seq3	TCC/TTC
chr22:30823133	func	intronic,intronic
chr22:30823133	transcript	NM_001003704,NM_016498
chr22:30823133	genomic	.,.
chr22:30823133	codon	.,.
chr22:30823133	protein	.,.
chr22:30823133	worst	intronic
chr22:30823133	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30823133	nvar	1
chr22:30823133	var	chr22:30823133:G/A
chr22:30823196	allele_ref	T
chr22:30823196	allele_alt	C
chr22:30823196	seqdb_ref	T
chr22:30823196	snp_fw_seq3	CTG/CCG
chr22:30823196	snp_rv_seq3	CAG/CGG
chr22:30823196	func	intronic,silent
chr22:30823196	transcript	NM_001003704,NM_016498
chr22:30823196	genomic	.,.
chr22:30823196	codon	.,.
chr22:30823196	protein	.,.
chr22:30823196	worst	silent
chr22:30823196	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30823196	nvar	1
chr22:30823196	var	chr22:30823196:T/C
chr22:30824621	allele_ref	A
chr22:30824621	allele_alt	T
chr22:30824621	seqdb_ref	A
chr22:30824621	snp_fw_seq3	GAC/GTC
chr22:30824621	snp_rv_seq3	GTC/GAC
chr22:30824621	func	missense,3-UTR
chr22:30824621	transcript	NM_001003704,NM_016498
chr22:30824621	genomic	g.368A>T,.
chr22:30824621	codon	c.368GAC>GTC,.
chr22:30824621	protein	p.123D>V,.
chr22:30824621	worst	missense
chr22:30824621	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:30824621	nvar	1
chr22:30824621	var	chr22:30824621:A/T
chr22:30856121	allele_ref	G
chr22:30856121	allele_alt	A
chr22:30856121	seqdb_ref	G
chr22:30856121	snp_fw_seq3	CGT/CAT
chr22:30856121	snp_rv_seq3	ACG/ATG
chr22:30856121	func	missense
chr22:30856121	transcript	NM_174975
chr22:30856121	genomic	g.1090G>A
chr22:30856121	codon	c.1090CGC>TGC
chr22:30856121	protein	p.364R>C
chr22:30856121	worst	missense
chr22:30856121	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30856121	nvar	1
chr22:30856121	var	chr22:30856121:G/A
chr22:30857353	allele_ref	T
chr22:30857353	allele_alt	C
chr22:30857353	seqdb_ref	T
chr22:30857353	snp_fw_seq3	ATA/ACA
chr22:30857353	snp_rv_seq3	TAT/TGT
chr22:30857353	func	missense
chr22:30857353	transcript	NM_174975
chr22:30857353	genomic	g.1025T>C
chr22:30857353	codon	c.1025TAT>TGT
chr22:30857353	protein	p.342Y>C
chr22:30857353	worst	missense
chr22:30857353	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30857353	nvar	1
chr22:30857353	var	chr22:30857353:T/C
chr22:30857373	allele_ref	A
chr22:30857373	allele_alt	C
chr22:30857373	seqdb_ref	A
chr22:30857373	snp_fw_seq3	CAT/CCT
chr22:30857373	snp_rv_seq3	ATG/AGG
chr22:30857373	func	missense
chr22:30857373	transcript	NM_174975
chr22:30857373	genomic	g.1005A>C
chr22:30857373	codon	c.1005GAT>GAG
chr22:30857373	protein	p.335D>E
chr22:30857373	worst	missense
chr22:30857373	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30857373	nvar	1
chr22:30857373	var	chr22:30857373:A/C
chr22:30857448	allele_ref	A
chr22:30857448	allele_alt	G
chr22:30857448	seqdb_ref	A
chr22:30857448	snp_fw_seq3	CAT/CGT
chr22:30857448	snp_rv_seq3	ATG/ACG
chr22:30857448	func	silent
chr22:30857448	transcript	NM_174975
chr22:30857448	genomic	.
chr22:30857448	codon	.
chr22:30857448	protein	.
chr22:30857448	worst	silent
chr22:30857448	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30857448	nvar	1
chr22:30857448	var	chr22:30857448:A/G
chr22:30857699	allele_ref	G
chr22:30857699	allele_alt	A
chr22:30857699	seqdb_ref	G
chr22:30857699	snp_fw_seq3	AGA/AAA
chr22:30857699	snp_rv_seq3	TCT/TTT
chr22:30857699	func	intronic
chr22:30857699	transcript	NM_174975
chr22:30857699	genomic	.
chr22:30857699	codon	.
chr22:30857699	protein	.
chr22:30857699	worst	intronic
chr22:30857699	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30857699	nvar	1
chr22:30857699	var	chr22:30857699:G/A
chr22:30860830	allele_ref	C
chr22:30860830	allele_alt	T
chr22:30860830	seqdb_ref	C
chr22:30860830	snp_fw_seq3	GCG/GTG
chr22:30860830	snp_rv_seq3	CGC/CAC
chr22:30860830	func	missense
chr22:30860830	transcript	NM_174975
chr22:30860830	genomic	g.641C>T
chr22:30860830	codon	c.641CGC>CAC
chr22:30860830	protein	p.214R>H
chr22:30860830	worst	missense
chr22:30860830	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30860830	nvar	1
chr22:30860830	var	chr22:30860830:C/T
chr22:30860934	allele_ref	T
chr22:30860934	allele_alt	C
chr22:30860934	seqdb_ref	T
chr22:30860934	snp_fw_seq3	ATT/ACT
chr22:30860934	snp_rv_seq3	AAT/AGT
chr22:30860934	func	intronic
chr22:30860934	transcript	NM_174975
chr22:30860934	genomic	.
chr22:30860934	codon	.
chr22:30860934	protein	.
chr22:30860934	worst	intronic
chr22:30860934	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30860934	nvar	1
chr22:30860934	var	chr22:30860934:T/C
chr22:30862400	allele_ref	T
chr22:30862400	allele_alt	A
chr22:30862400	seqdb_ref	T
chr22:30862400	snp_fw_seq3	ATC/AAC
chr22:30862400	snp_rv_seq3	GAT/GTT
chr22:30862400	func	intronic
chr22:30862400	transcript	NM_174975
chr22:30862400	genomic	.
chr22:30862400	codon	.
chr22:30862400	protein	.
chr22:30862400	worst	intronic
chr22:30862400	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30862400	nvar	1
chr22:30862400	var	chr22:30862400:T/A
chr22:30864463	allele_ref	C
chr22:30864463	allele_alt	T
chr22:30864463	seqdb_ref	C
chr22:30864463	snp_fw_seq3	CCA/CTA
chr22:30864463	snp_rv_seq3	TGG/TAG
chr22:30864463	func	intronic
chr22:30864463	transcript	NM_174975
chr22:30864463	genomic	.
chr22:30864463	codon	.
chr22:30864463	protein	.
chr22:30864463	worst	intronic
chr22:30864463	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30864463	nvar	1
chr22:30864463	var	chr22:30864463:C/T
chr22:30864610	allele_ref	A
chr22:30864610	allele_alt	G
chr22:30864610	seqdb_ref	A
chr22:30864610	snp_fw_seq3	AAT/AGT
chr22:30864610	snp_rv_seq3	ATT/ACT
chr22:30864610	func	missense
chr22:30864610	transcript	NM_174975
chr22:30864610	genomic	g.308A>G
chr22:30864610	codon	c.308ATT>ACT
chr22:30864610	protein	p.103I>T
chr22:30864610	worst	missense
chr22:30864610	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30864610	nvar	1
chr22:30864610	var	chr22:30864610:A/G
chr22:30864692	allele_ref	G
chr22:30864692	allele_alt	A
chr22:30864692	seqdb_ref	G
chr22:30864692	snp_fw_seq3	TGA/TAA
chr22:30864692	snp_rv_seq3	TCA/TTA
chr22:30864692	func	intronic
chr22:30864692	transcript	NM_174975
chr22:30864692	genomic	.
chr22:30864692	codon	.
chr22:30864692	protein	.
chr22:30864692	worst	intronic
chr22:30864692	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30864692	nvar	1
chr22:30864692	var	chr22:30864692:G/A
chr22:30867865	allele_ref	C
chr22:30867865	allele_alt	T
chr22:30867865	seqdb_ref	C
chr22:30867865	snp_fw_seq3	CCG/CTG
chr22:30867865	snp_rv_seq3	CGG/CAG
chr22:30867865	func	intronic
chr22:30867865	transcript	NM_174975
chr22:30867865	genomic	.
chr22:30867865	codon	.
chr22:30867865	protein	.
chr22:30867865	worst	intronic
chr22:30867865	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30867865	nvar	1
chr22:30867865	var	chr22:30867865:C/T
chr22:30886156	allele_ref	C
chr22:30886156	allele_alt	T
chr22:30886156	seqdb_ref	C
chr22:30886156	snp_fw_seq3	TCG/TTG
chr22:30886156	snp_rv_seq3	CGA/CAA
chr22:30886156	func	intronic,missense
chr22:30886156	transcript	NM_001161368,NM_174977
chr22:30886156	genomic	.,g.1159C>T
chr22:30886156	codon	.,c.1159GAC>AAC
chr22:30886156	protein	.,p.387D>N
chr22:30886156	worst	missense
chr22:30886156	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30886156	nvar	1
chr22:30886156	var	chr22:30886156:C/T
chr22:30886214	allele_ref	G
chr22:30886214	allele_alt	A
chr22:30886214	seqdb_ref	G
chr22:30886214	snp_fw_seq3	TGT/TAT
chr22:30886214	snp_rv_seq3	ACA/ATA
chr22:30886214	func	intronic,silent
chr22:30886214	transcript	NM_001161368,NM_174977
chr22:30886214	genomic	.,.
chr22:30886214	codon	.,.
chr22:30886214	protein	.,.
chr22:30886214	worst	silent
chr22:30886214	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30886214	nvar	1
chr22:30886214	var	chr22:30886214:G/A
chr22:30886224	allele_ref	C
chr22:30886224	allele_alt	T
chr22:30886224	seqdb_ref	C
chr22:30886224	snp_fw_seq3	GCG/GTG
chr22:30886224	snp_rv_seq3	CGC/CAC
chr22:30886224	func	intronic,missense
chr22:30886224	transcript	NM_001161368,NM_174977
chr22:30886224	genomic	.,g.1091C>T
chr22:30886224	codon	.,c.1091CGC>CAC
chr22:30886224	protein	.,p.364R>H
chr22:30886224	worst	missense
chr22:30886224	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30886224	nvar	1
chr22:30886224	var	chr22:30886224:C/T
chr22:30887668	allele_ref	C
chr22:30887668	allele_alt	G
chr22:30887668	seqdb_ref	C
chr22:30887668	snp_fw_seq3	CCC/CGC
chr22:30887668	snp_rv_seq3	GGG/GCG
chr22:30887668	func	missense,missense
chr22:30887668	transcript	NM_001161368,NM_174977
chr22:30887668	genomic	g.973C>G,g.973C>G
chr22:30887668	codon	c.973GGG>CGG,c.973GGG>CGG
chr22:30887668	protein	p.325G>R,p.325G>R
chr22:30887668	worst	missense
chr22:30887668	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30887668	nvar	1
chr22:30887668	var	chr22:30887668:C/G
chr22:30887825	allele_ref	G
chr22:30887825	allele_alt	A
chr22:30887825	seqdb_ref	G
chr22:30887825	snp_fw_seq3	AGC/AAC
chr22:30887825	snp_rv_seq3	GCT/GTT
chr22:30887825	func	splice,missense,splice,missense
chr22:30887825	annot_details	DIST=-4,NMD=0,OFPTV=1,EXIN=10,ISEQ=GGGATG,ESEQ=GACTCG,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS10+-4C>T,DIST=-4,NMD=0,OFPTV=1,EXIN=10,ISEQ=GGGATG,ESEQ=GACTCG,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS10+-4C>T
chr22:30887825	transcript	NM_001161368,NM_001161368,NM_174977,NM_174977
chr22:30887825	genomic	.,g.907G>A,.,g.907G>A
chr22:30887825	codon	.,c.907CTC>TTC,.,c.907CTC>TTC
chr22:30887825	protein	.,p.303L>F,.,p.303L>F
chr22:30887825	worst	missense
chr22:30887825	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30887825	nvar	1
chr22:30887825	var	chr22:30887825:G/A
chr22:30887919	allele_ref	G
chr22:30887919	allele_alt	A
chr22:30887919	seqdb_ref	G
chr22:30887919	snp_fw_seq3	CGC/CAC
chr22:30887919	snp_rv_seq3	GCG/GTG
chr22:30887919	func	silent,silent
chr22:30887919	transcript	NM_001161368,NM_174977
chr22:30887919	genomic	.,.
chr22:30887919	codon	.,.
chr22:30887919	protein	.,.
chr22:30887919	worst	silent
chr22:30887919	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30887919	nvar	1
chr22:30887919	var	chr22:30887919:G/A
chr22:30888412	allele_ref	C
chr22:30888412	allele_alt	T
chr22:30888412	seqdb_ref	C
chr22:30888412	snp_fw_seq3	ACC/ATC
chr22:30888412	snp_rv_seq3	GGT/GAT
chr22:30888412	func	intronic,intronic
chr22:30888412	transcript	NM_001161368,NM_174977
chr22:30888412	genomic	.,.
chr22:30888412	codon	.,.
chr22:30888412	protein	.,.
chr22:30888412	worst	intronic
chr22:30888412	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30888412	nvar	1
chr22:30888412	var	chr22:30888412:C/T
chr22:30888494	allele_ref	C
chr22:30888494	allele_alt	T
chr22:30888494	seqdb_ref	C
chr22:30888494	snp_fw_seq3	TCA/TTA
chr22:30888494	snp_rv_seq3	TGA/TAA
chr22:30888494	func	missense,missense
chr22:30888494	transcript	NM_001161368,NM_174977
chr22:30888494	genomic	g.631C>T,g.631C>T
chr22:30888494	codon	c.631GAG>AAG,c.631GAG>AAG
chr22:30888494	protein	p.211E>K,p.211E>K
chr22:30888494	worst	missense
chr22:30888494	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30888494	nvar	1
chr22:30888494	var	chr22:30888494:C/T
chr22:30888527	allele_ref	C
chr22:30888527	allele_alt	T
chr22:30888527	seqdb_ref	C
chr22:30888527	snp_fw_seq3	ACG/ATG
chr22:30888527	snp_rv_seq3	CGT/CAT
chr22:30888527	func	missense,missense
chr22:30888527	transcript	NM_001161368,NM_174977
chr22:30888527	genomic	g.598C>T,g.598C>T
chr22:30888527	codon	c.598GTG>ATG,c.598GTG>ATG
chr22:30888527	protein	p.200V>M,p.200V>M
chr22:30888527	worst	missense
chr22:30888527	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30888527	nvar	1
chr22:30888527	var	chr22:30888527:C/T
chr22:30888589	allele_ref	G
chr22:30888589	allele_alt	A
chr22:30888589	seqdb_ref	G
chr22:30888589	snp_fw_seq3	CGT/CAT
chr22:30888589	snp_rv_seq3	ACG/ATG
chr22:30888589	func	intronic,intronic
chr22:30888589	transcript	NM_001161368,NM_174977
chr22:30888589	genomic	.,.
chr22:30888589	codon	.,.
chr22:30888589	protein	.,.
chr22:30888589	worst	intronic
chr22:30888589	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30888589	nvar	1
chr22:30888589	var	chr22:30888589:G/A
chr22:30891250	allele_ref	T
chr22:30891250	allele_alt	C
chr22:30891250	seqdb_ref	T
chr22:30891250	snp_fw_seq3	TTT/TCT
chr22:30891250	snp_rv_seq3	AAA/AGA
chr22:30891250	func	silent,silent
chr22:30891250	transcript	NM_001161368,NM_174977
chr22:30891250	genomic	.,.
chr22:30891250	codon	.,.
chr22:30891250	protein	.,.
chr22:30891250	worst	silent
chr22:30891250	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30891250	nvar	1
chr22:30891250	var	chr22:30891250:T/C
chr22:30891264	allele_ref	C
chr22:30891264	allele_alt	A
chr22:30891264	seqdb_ref	C
chr22:30891264	snp_fw_seq3	TCA/TAA
chr22:30891264	snp_rv_seq3	TGA/TTA
chr22:30891264	func	nonsense,nonsense
chr22:30891264	annot_details	NMD=1,OFPTV=1,PEPSIZE=361->134,HGVS=p.E134*,NMD=1,OFPTV=1,PEPSIZE=407->134,HGVS=p.E134*
chr22:30891264	transcript	NM_001161368,NM_174977
chr22:30891264	genomic	g.400C>A,g.400C>A
chr22:30891264	codon	c.400GAG>TAG,c.400GAG>TAG
chr22:30891264	protein	p.134E>*,p.134E>*
chr22:30891264	worst	nonsense
chr22:30891264	class	nonsense,NON=2,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30891264	nvar	1
chr22:30891264	var	chr22:30891264:C/A
chr22:30891294	allele_ref	G
chr22:30891294	allele_alt	C
chr22:30891294	seqdb_ref	G
chr22:30891294	snp_fw_seq3	CGC/CCC
chr22:30891294	snp_rv_seq3	GCG/GGG
chr22:30891294	func	missense,missense
chr22:30891294	transcript	NM_001161368,NM_174977
chr22:30891294	genomic	g.370G>C,g.370G>C
chr22:30891294	codon	c.370CGC>GGC,c.370CGC>GGC
chr22:30891294	protein	p.124R>G,p.124R>G
chr22:30891294	worst	missense
chr22:30891294	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30891294	nvar	1
chr22:30891294	var	chr22:30891294:G/C
chr22:30891400	allele_ref	A
chr22:30891400	allele_alt	G
chr22:30891400	seqdb_ref	A
chr22:30891400	snp_fw_seq3	AAA/AGA
chr22:30891400	snp_rv_seq3	TTT/TCT
chr22:30891400	func	silent,silent
chr22:30891400	transcript	NM_001161368,NM_174977
chr22:30891400	genomic	.,.
chr22:30891400	codon	.,.
chr22:30891400	protein	.,.
chr22:30891400	worst	silent
chr22:30891400	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30891400	nvar	1
chr22:30891400	var	chr22:30891400:A/G
chr22:30891412	allele_ref	G
chr22:30891412	allele_alt	A
chr22:30891412	seqdb_ref	G
chr22:30891412	snp_fw_seq3	AGT/AAT
chr22:30891412	snp_rv_seq3	ACT/ATT
chr22:30891412	func	silent,silent
chr22:30891412	transcript	NM_001161368,NM_174977
chr22:30891412	genomic	.,.
chr22:30891412	codon	.,.
chr22:30891412	protein	.,.
chr22:30891412	worst	silent
chr22:30891412	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30891412	nvar	1
chr22:30891412	var	chr22:30891412:G/A
chr22:30891560	allele_ref	C
chr22:30891560	allele_alt	T
chr22:30891560	seqdb_ref	C
chr22:30891560	snp_fw_seq3	TCG/TTG
chr22:30891560	snp_rv_seq3	CGA/CAA
chr22:30891560	func	intronic,intronic
chr22:30891560	transcript	NM_001161368,NM_174977
chr22:30891560	genomic	.,.
chr22:30891560	codon	.,.
chr22:30891560	protein	.,.
chr22:30891560	worst	intronic
chr22:30891560	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30891560	nvar	1
chr22:30891560	var	chr22:30891560:C/T
chr22:30891561	allele_ref	G
chr22:30891561	allele_alt	A
chr22:30891561	seqdb_ref	G
chr22:30891561	snp_fw_seq3	CGA/CAA
chr22:30891561	snp_rv_seq3	TCG/TTG
chr22:30891561	func	intronic,intronic
chr22:30891561	transcript	NM_001161368,NM_174977
chr22:30891561	genomic	.,.
chr22:30891561	codon	.,.
chr22:30891561	protein	.,.
chr22:30891561	worst	intronic
chr22:30891561	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30891561	nvar	1
chr22:30891561	var	chr22:30891561:G/A
chr22:30891871	allele_ref	C
chr22:30891871	allele_alt	T
chr22:30891871	seqdb_ref	C
chr22:30891871	snp_fw_seq3	TCA/TTA
chr22:30891871	snp_rv_seq3	TGA/TAA
chr22:30891871	func	intronic,intronic
chr22:30891871	transcript	NM_001161368,NM_174977
chr22:30891871	genomic	.,.
chr22:30891871	codon	.,.
chr22:30891871	protein	.,.
chr22:30891871	worst	intronic
chr22:30891871	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30891871	nvar	1
chr22:30891871	var	chr22:30891871:C/T
chr22:30899617	allele_ref	C
chr22:30899617	allele_alt	T
chr22:30899617	seqdb_ref	C
chr22:30899617	snp_fw_seq3	TCC/TTC
chr22:30899617	snp_rv_seq3	GGA/GAA
chr22:30899617	func	intronic,intronic
chr22:30899617	transcript	NM_001161368,NM_174977
chr22:30899617	genomic	.,.
chr22:30899617	codon	.,.
chr22:30899617	protein	.,.
chr22:30899617	worst	intronic
chr22:30899617	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30899617	nvar	1
chr22:30899617	var	chr22:30899617:C/T
chr22:30899745	allele_ref	C
chr22:30899745	allele_alt	T
chr22:30899745	seqdb_ref	C
chr22:30899745	snp_fw_seq3	GCG/GTG
chr22:30899745	snp_rv_seq3	CGC/CAC
chr22:30899745	func	intronic,intronic
chr22:30899745	transcript	NM_001161368,NM_174977
chr22:30899745	genomic	.,.
chr22:30899745	codon	.,.
chr22:30899745	protein	.,.
chr22:30899745	worst	intronic
chr22:30899745	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30899745	nvar	1
chr22:30899745	var	chr22:30899745:C/T
chr22:30901528	allele_ref	C
chr22:30901528	allele_alt	T
chr22:30901528	seqdb_ref	C
chr22:30901528	snp_fw_seq3	GCC/GTC
chr22:30901528	snp_rv_seq3	GGC/GAC
chr22:30901528	func	intronic,intronic
chr22:30901528	transcript	NM_001161368,NM_174977
chr22:30901528	genomic	.,.
chr22:30901528	codon	.,.
chr22:30901528	protein	.,.
chr22:30901528	worst	intronic
chr22:30901528	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30901528	nvar	1
chr22:30901528	var	chr22:30901528:C/T
chr22:30901592	allele_ref	T
chr22:30901592	allele_alt	C
chr22:30901592	seqdb_ref	T
chr22:30901592	snp_fw_seq3	CTG/CCG
chr22:30901592	snp_rv_seq3	CAG/CGG
chr22:30901592	func	missense,missense
chr22:30901592	transcript	NM_001161368,NM_174977
chr22:30901592	genomic	g.7T>C,g.7T>C
chr22:30901592	codon	c.7AGC>GGC,c.7AGC>GGC
chr22:30901592	protein	p.3S>G,p.3S>G
chr22:30901592	worst	missense
chr22:30901592	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30901592	nvar	1
chr22:30901592	var	chr22:30901592:T/C
chr22:30951226	allele_ref	C
chr22:30951226	allele_alt	T
chr22:30951226	seqdb_ref	C
chr22:30951226	snp_fw_seq3	GCG/GTG
chr22:30951226	snp_rv_seq3	CGC/CAC
chr22:30951226	func	missense
chr22:30951226	transcript	NM_004861
chr22:30951226	genomic	g.986C>T
chr22:30951226	codon	c.986CGC>CAC
chr22:30951226	protein	p.329R>H
chr22:30951226	worst	missense
chr22:30951226	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30951226	nvar	1
chr22:30951226	var	chr22:30951226:C/T
chr22:30951404	allele_ref	G
chr22:30951404	allele_alt	A
chr22:30951404	seqdb_ref	G
chr22:30951404	snp_fw_seq3	AGC/AAC
chr22:30951404	snp_rv_seq3	GCT/GTT
chr22:30951404	func	silent
chr22:30951404	transcript	NM_004861
chr22:30951404	genomic	.
chr22:30951404	codon	.
chr22:30951404	protein	.
chr22:30951404	worst	silent
chr22:30951404	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30951404	nvar	1
chr22:30951404	var	chr22:30951404:G/A
chr22:30951482	allele_ref	G
chr22:30951482	allele_alt	C
chr22:30951482	seqdb_ref	G
chr22:30951482	snp_fw_seq3	CGC/CCC
chr22:30951482	snp_rv_seq3	GCG/GGG
chr22:30951482	func	missense
chr22:30951482	transcript	NM_004861
chr22:30951482	genomic	g.730G>C
chr22:30951482	codon	c.730CGT>GGT
chr22:30951482	protein	p.244R>G
chr22:30951482	worst	missense
chr22:30951482	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30951482	nvar	1
chr22:30951482	var	chr22:30951482:G/C
chr22:30951813	allele_ref	G
chr22:30951813	allele_alt	C
chr22:30951813	seqdb_ref	G
chr22:30951813	snp_fw_seq3	AGG/ACG
chr22:30951813	snp_rv_seq3	CCT/CGT
chr22:30951813	func	silent
chr22:30951813	transcript	NM_004861
chr22:30951813	genomic	.
chr22:30951813	codon	.
chr22:30951813	protein	.
chr22:30951813	worst	silent
chr22:30951813	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30951813	nvar	1
chr22:30951813	var	chr22:30951813:G/C
chr22:30951882	allele_ref	G
chr22:30951882	allele_alt	A
chr22:30951882	seqdb_ref	G
chr22:30951882	snp_fw_seq3	CGT/CAT
chr22:30951882	snp_rv_seq3	ACG/ATG
chr22:30951882	func	silent
chr22:30951882	transcript	NM_004861
chr22:30951882	genomic	.
chr22:30951882	codon	.
chr22:30951882	protein	.
chr22:30951882	worst	silent
chr22:30951882	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30951882	nvar	1
chr22:30951882	var	chr22:30951882:G/A
chr22:30952023	allele_ref	G
chr22:30952023	allele_alt	A
chr22:30952023	seqdb_ref	G
chr22:30952023	snp_fw_seq3	GGA/GAA
chr22:30952023	snp_rv_seq3	TCC/TTC
chr22:30952023	func	silent
chr22:30952023	transcript	NM_004861
chr22:30952023	genomic	.
chr22:30952023	codon	.
chr22:30952023	protein	.
chr22:30952023	worst	silent
chr22:30952023	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30952023	nvar	1
chr22:30952023	var	chr22:30952023:G/A
chr22:30953280	allele_ref	C
chr22:30953280	allele_alt	T
chr22:30953280	seqdb_ref	C
chr22:30953280	snp_fw_seq3	ACG/ATG
chr22:30953280	snp_rv_seq3	CGT/CAT
chr22:30953280	func	missense
chr22:30953280	transcript	NM_004861
chr22:30953280	genomic	g.100C>T
chr22:30953280	codon	c.100GTG>ATG
chr22:30953280	protein	p.34V>M
chr22:30953280	worst	missense
chr22:30953280	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30953280	nvar	1
chr22:30953280	var	chr22:30953280:C/T
chr22:30953295	allele_ref	C
chr22:30953295	allele_alt	T
chr22:30953295	seqdb_ref	C
chr22:30953295	snp_fw_seq3	ACC/ATC
chr22:30953295	snp_rv_seq3	GGT/GAT
chr22:30953295	func	missense
chr22:30953295	transcript	NM_004861
chr22:30953295	genomic	g.85C>T
chr22:30953295	codon	c.85GTG>ATG
chr22:30953295	protein	p.29V>M
chr22:30953295	worst	missense
chr22:30953295	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30953295	nvar	1
chr22:30953295	var	chr22:30953295:C/T
chr22:30973025	allele_ref	G
chr22:30973025	allele_alt	A
chr22:30973025	seqdb_ref	G
chr22:30973025	snp_fw_seq3	CGC/CAC
chr22:30973025	snp_rv_seq3	GCG/GTG
chr22:30973025	func	3-UTR,3-UTR,npcRNA
chr22:30973025	transcript	NM_001243225,NM_014303,NR_036550
chr22:30973025	genomic	.,.,.
chr22:30973025	codon	.,.,.
chr22:30973025	protein	.,.,.
chr22:30973025	worst	UTR3
chr22:30973025	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=1
chr22:30973025	nvar	1
chr22:30973025	var	chr22:30973025:G/A
chr22:30975789	allele_ref	C
chr22:30975789	allele_alt	T
chr22:30975789	seqdb_ref	C
chr22:30975789	snp_fw_seq3	ACG/ATG
chr22:30975789	snp_rv_seq3	CGT/CAT
chr22:30975789	func	missense,missense,npcRNA
chr22:30975789	transcript	NM_001243225,NM_014303,NR_036550
chr22:30975789	genomic	g.1288C>T,g.1303C>T,.
chr22:30975789	codon	c.1288GTT>ATT,c.1303GTT>ATT,.
chr22:30975789	protein	p.430V>I,p.435V>I,.
chr22:30975789	worst	missense
chr22:30975789	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:30975789	nvar	1
chr22:30975789	var	chr22:30975789:C/T
chr22:30975861	allele_ref	C
chr22:30975861	allele_alt	T
chr22:30975861	seqdb_ref	C
chr22:30975861	snp_fw_seq3	GCC/GTC
chr22:30975861	snp_rv_seq3	GGC/GAC
chr22:30975861	func	missense,missense,npcRNA
chr22:30975861	transcript	NM_001243225,NM_014303,NR_036550
chr22:30975861	genomic	g.1216C>T,g.1231C>T,.
chr22:30975861	codon	c.1216GCA>ACA,c.1231GCA>ACA,.
chr22:30975861	protein	p.406A>T,p.411A>T,.
chr22:30975861	worst	missense
chr22:30975861	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:30975861	nvar	1
chr22:30975861	var	chr22:30975861:C/T
chr22:30975882	allele_ref	C
chr22:30975882	allele_alt	T
chr22:30975882	seqdb_ref	C
chr22:30975882	snp_fw_seq3	GCG/GTG
chr22:30975882	snp_rv_seq3	CGC/CAC
chr22:30975882	func	missense,missense,npcRNA
chr22:30975882	transcript	NM_001243225,NM_014303,NR_036550
chr22:30975882	genomic	g.1195C>T,g.1210C>T,.
chr22:30975882	codon	c.1195GCC>ACC,c.1210GCC>ACC,.
chr22:30975882	protein	p.399A>T,p.404A>T,.
chr22:30975882	worst	missense
chr22:30975882	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:30975882	nvar	1
chr22:30975882	var	chr22:30975882:C/T
chr22:30977353	allele_ref	T
chr22:30977353	allele_alt	A
chr22:30977353	seqdb_ref	T
chr22:30977353	snp_fw_seq3	GTG/GAG
chr22:30977353	snp_rv_seq3	CAC/CTC
chr22:30977353	func	missense,missense,npcRNA
chr22:30977353	transcript	NM_001243225,NM_014303,NR_036550
chr22:30977353	genomic	g.790T>A,g.790T>A,.
chr22:30977353	codon	c.790ACC>TCC,c.790ACC>TCC,.
chr22:30977353	protein	p.264T>S,p.264T>S,.
chr22:30977353	worst	missense
chr22:30977353	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:30977353	nvar	1
chr22:30977353	var	chr22:30977353:T/A
chr22:30977634	allele_ref	G
chr22:30977634	allele_alt	A
chr22:30977634	seqdb_ref	G
chr22:30977634	snp_fw_seq3	TGG/TAG
chr22:30977634	snp_rv_seq3	CCA/CTA
chr22:30977634	func	intronic,splice,intronic,splice,intronic,splice
chr22:30977634	annot_details	DIST=3,NMD=0,OFPTV=1,EXIN=7,ISEQ=GACCCC,ESEQ=GCCCAC,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS7+3C>T,DIST=3,NMD=0,OFPTV=1,EXIN=7,ISEQ=GACCCC,ESEQ=GCCCAC,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS7+3C>T,DIST=3,NMD=0,OFPTV=1,EXIN=9,ISEQ=GACCCC,ESEQ=GCCCAC,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS9+3C>T
chr22:30977634	transcript	NM_001243225,NM_001243225,NM_014303,NM_014303,NR_036550,NR_036550
chr22:30977634	genomic	.,.,.,.,.,.
chr22:30977634	codon	.,.,.,.,.,.
chr22:30977634	protein	.,.,.,.,.,.
chr22:30977634	worst	splice
chr22:30977634	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=3,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30977634	nvar	1
chr22:30977634	var	chr22:30977634:G/A
chr22:30980503	allele_ref	G
chr22:30980503	allele_alt	C
chr22:30980503	seqdb_ref	G
chr22:30980503	snp_fw_seq3	TGG/TCG
chr22:30980503	snp_rv_seq3	CCA/CGA
chr22:30980503	func	intronic,intronic,intronic
chr22:30980503	transcript	NM_001243225,NM_014303,NR_036550
chr22:30980503	genomic	.,.,.
chr22:30980503	codon	.,.,.
chr22:30980503	protein	.,.,.
chr22:30980503	worst	intronic
chr22:30980503	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:30980503	nvar	1
chr22:30980503	var	chr22:30980503:G/C
chr22:30987845	allele_ref	G
chr22:30987845	allele_alt	A
chr22:30987845	seqdb_ref	G
chr22:30987845	snp_fw_seq3	AGG/AAG
chr22:30987845	snp_rv_seq3	CCT/CTT
chr22:30987845	func	5-UTR,5-UTR,intronic
chr22:30987845	transcript	NM_001243225,NM_014303,NR_036550
chr22:30987845	genomic	.,.,.
chr22:30987845	codon	.,.,.
chr22:30987845	protein	.,.,.
chr22:30987845	worst	UTR5
chr22:30987845	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=2,UTR3=0,npcRNA=0
chr22:30987845	nvar	1
chr22:30987845	var	chr22:30987845:G/A
chr22:30987861	allele_ref	G
chr22:30987861	allele_alt	C
chr22:30987861	seqdb_ref	G
chr22:30987861	snp_fw_seq3	GGA/GCA
chr22:30987861	snp_rv_seq3	TCC/TGC
chr22:30987861	func	5-UTR,5-UTR,intronic
chr22:30987861	transcript	NM_001243225,NM_014303,NR_036550
chr22:30987861	genomic	.,.,.
chr22:30987861	codon	.,.,.
chr22:30987861	protein	.,.,.
chr22:30987861	worst	UTR5
chr22:30987861	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=2,UTR3=0,npcRNA=0
chr22:30987861	nvar	1
chr22:30987861	var	chr22:30987861:G/C
chr22:31003393	allele_ref	C
chr22:31003393	allele_alt	T
chr22:31003393	seqdb_ref	C
chr22:31003393	snp_fw_seq3	TCG/TTG
chr22:31003393	snp_rv_seq3	CGA/CAA
chr22:31003393	func	intronic,intronic
chr22:31003393	transcript	NM_000355,NM_001184726
chr22:31003393	genomic	.,.
chr22:31003393	codon	.,.
chr22:31003393	protein	.,.
chr22:31003393	worst	intronic
chr22:31003393	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31003393	nvar	1
chr22:31003393	var	chr22:31003393:C/T
chr22:31006860	allele_ref	A
chr22:31006860	allele_alt	G
chr22:31006860	seqdb_ref	A
chr22:31006860	snp_fw_seq3	AAT/AGT
chr22:31006860	snp_rv_seq3	ATT/ACT
chr22:31006860	func	splice,missense,splice,missense
chr22:31006860	annot_details	DIST=2,NMD=0,OFPTV=0,EXIN=2,ISEQ=TCTAAG,ESEQ=AAATAC,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS2+2A>G,DIST=2,NMD=0,OFPTV=0,EXIN=2,ISEQ=TCTAAG,ESEQ=AAATAC,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS2+2A>G
chr22:31006860	transcript	NM_000355,NM_000355,NM_001184726,NM_001184726
chr22:31006860	genomic	.,g.67A>G,.,g.67A>G
chr22:31006860	codon	.,c.67ATA>GTA,.,c.67ATA>GTA
chr22:31006860	protein	.,p.23I>V,.,p.23I>V
chr22:31006860	worst	missense
chr22:31006860	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31006860	nvar	1
chr22:31006860	var	chr22:31006860:A/G
chr22:31006985	allele_ref	G
chr22:31006985	allele_alt	A
chr22:31006985	seqdb_ref	G
chr22:31006985	snp_fw_seq3	AGG/AAG
chr22:31006985	snp_rv_seq3	CCT/CTT
chr22:31006985	func	silent,silent
chr22:31006985	transcript	NM_000355,NM_001184726
chr22:31006985	genomic	.,.
chr22:31006985	codon	.,.
chr22:31006985	protein	.,.
chr22:31006985	worst	silent
chr22:31006985	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31006985	nvar	1
chr22:31006985	var	chr22:31006985:G/A
chr22:31008962	allele_ref	G
chr22:31008962	allele_alt	A
chr22:31008962	seqdb_ref	G
chr22:31008962	snp_fw_seq3	GGG/GAG
chr22:31008962	snp_rv_seq3	CCC/CTC
chr22:31008962	func	silent,intronic
chr22:31008962	transcript	NM_000355,NM_001184726
chr22:31008962	genomic	.,.
chr22:31008962	codon	.,.
chr22:31008962	protein	.,.
chr22:31008962	worst	silent
chr22:31008962	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31008962	nvar	1
chr22:31008962	var	chr22:31008962:G/A
chr22:31010305	allele_ref	G
chr22:31010305	allele_alt	A
chr22:31010305	seqdb_ref	G
chr22:31010305	snp_fw_seq3	AGA/AAA
chr22:31010305	snp_rv_seq3	TCT/TTT
chr22:31010305	func	intronic,intronic
chr22:31010305	transcript	NM_000355,NM_001184726
chr22:31010305	genomic	.,.
chr22:31010305	codon	.,.
chr22:31010305	protein	.,.
chr22:31010305	worst	intronic
chr22:31010305	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31010305	nvar	1
chr22:31010305	var	chr22:31010305:G/A
chr22:31011280	allele_ref	A
chr22:31011280	allele_alt	C
chr22:31011280	seqdb_ref	A
chr22:31011280	snp_fw_seq3	CAC/CCC
chr22:31011280	snp_rv_seq3	GTG/GGG
chr22:31011280	func	intronic,intronic
chr22:31011280	transcript	NM_000355,NM_001184726
chr22:31011280	genomic	.,.
chr22:31011280	codon	.,.
chr22:31011280	protein	.,.
chr22:31011280	worst	intronic
chr22:31011280	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31011280	nvar	1
chr22:31011280	var	chr22:31011280:A/C
chr22:31011330	allele_ref	G
chr22:31011330	allele_alt	A
chr22:31011330	seqdb_ref	G
chr22:31011330	snp_fw_seq3	CGC/CAC
chr22:31011330	snp_rv_seq3	GCG/GTG
chr22:31011330	func	missense,missense
chr22:31011330	transcript	NM_000355,NM_001184726
chr22:31011330	genomic	g.623G>A,g.542G>A
chr22:31011330	codon	c.623CGC>CAC,c.542CGC>CAC
chr22:31011330	protein	p.208R>H,p.181R>H
chr22:31011330	worst	missense
chr22:31011330	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31011330	nvar	1
chr22:31011330	var	chr22:31011330:G/A
chr22:31011350	allele_ref	C
chr22:31011350	allele_alt	T
chr22:31011350	seqdb_ref	C
chr22:31011350	snp_fw_seq3	TCG/TTG
chr22:31011350	snp_rv_seq3	CGA/CAA
chr22:31011350	func	missense,missense
chr22:31011350	transcript	NM_000355,NM_001184726
chr22:31011350	genomic	g.643C>T,g.562C>T
chr22:31011350	codon	c.643CGG>TGG,c.562CGG>TGG
chr22:31011350	protein	p.215R>W,p.188R>W
chr22:31011350	worst	missense
chr22:31011350	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31011350	nvar	1
chr22:31011350	var	chr22:31011350:C/T
chr22:31011557	allele_ref	T
chr22:31011557	allele_alt	C
chr22:31011557	seqdb_ref	T
chr22:31011557	snp_fw_seq3	CTT/CCT
chr22:31011557	snp_rv_seq3	AAG/AGG
chr22:31011557	func	intronic,intronic
chr22:31011557	transcript	NM_000355,NM_001184726
chr22:31011557	genomic	.,.
chr22:31011557	codon	.,.
chr22:31011557	protein	.,.
chr22:31011557	worst	intronic
chr22:31011557	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31011557	nvar	1
chr22:31011557	var	chr22:31011557:T/C
chr22:31011610	allele_ref	G
chr22:31011610	allele_alt	C
chr22:31011610	seqdb_ref	G
chr22:31011610	snp_fw_seq3	CGT/CCT
chr22:31011610	snp_rv_seq3	ACG/AGG
chr22:31011610	func	missense,missense
chr22:31011610	transcript	NM_000355,NM_001184726
chr22:31011610	genomic	g.776G>C,g.695G>C
chr22:31011610	codon	c.776CGT>CCT,c.695CGT>CCT
chr22:31011610	protein	p.259R>P,p.232R>P
chr22:31011610	worst	missense
chr22:31011610	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31011610	nvar	1
chr22:31011610	var	chr22:31011610:G/C
chr22:31013296	allele_ref	G
chr22:31013296	allele_alt	A
chr22:31013296	seqdb_ref	G
chr22:31013296	snp_fw_seq3	CGC/CAC
chr22:31013296	snp_rv_seq3	GCG/GTG
chr22:31013296	func	intronic,intronic
chr22:31013296	transcript	NM_000355,NM_001184726
chr22:31013296	genomic	.,.
chr22:31013296	codon	.,.
chr22:31013296	protein	.,.
chr22:31013296	worst	intronic
chr22:31013296	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31013296	nvar	1
chr22:31013296	var	chr22:31013296:G/A
chr22:31013419	allele_ref	C
chr22:31013419	allele_alt	T
chr22:31013419	seqdb_ref	C
chr22:31013419	snp_fw_seq3	TCT/TTT
chr22:31013419	snp_rv_seq3	AGA/AAA
chr22:31013419	func	missense,missense
chr22:31013419	transcript	NM_000355,NM_001184726
chr22:31013419	genomic	g.1043C>T,g.962C>T
chr22:31013419	codon	c.1043TCT>TTT,c.962TCT>TTT
chr22:31013419	protein	p.348S>F,p.321S>F
chr22:31013419	worst	missense
chr22:31013419	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31013419	nvar	1
chr22:31013419	var	chr22:31013419:C/T
chr22:31019044	allele_ref	G
chr22:31019044	allele_alt	A
chr22:31019044	seqdb_ref	G
chr22:31019044	snp_fw_seq3	CGA/CAA
chr22:31019044	snp_rv_seq3	TCG/TTG
chr22:31019044	func	missense,missense
chr22:31019044	transcript	NM_000355,NM_001184726
chr22:31019044	genomic	g.1196G>A,g.1115G>A
chr22:31019044	codon	c.1196CGA>CAA,c.1115CGA>CAA
chr22:31019044	protein	p.399R>Q,p.372R>Q
chr22:31019044	worst	missense
chr22:31019044	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31019044	nvar	1
chr22:31019044	var	chr22:31019044:G/A
chr22:31022453	allele_ref	C
chr22:31022453	allele_alt	G
chr22:31022453	seqdb_ref	C
chr22:31022453	snp_fw_seq3	GCT/GGT
chr22:31022453	snp_rv_seq3	AGC/ACC
chr22:31022453	func	missense,missense
chr22:31022453	transcript	NM_000355,NM_001184726
chr22:31022453	genomic	g.1229C>G,g.1148C>G
chr22:31022453	codon	c.1229GCT>GGT,c.1148GCT>GGT
chr22:31022453	protein	p.410A>G,p.383A>G
chr22:31022453	worst	missense
chr22:31022453	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31022453	nvar	1
chr22:31022453	var	chr22:31022453:C/G
chr22:31032881	allele_ref	G
chr22:31032881	allele_alt	A
chr22:31032881	seqdb_ref	G
chr22:31032881	snp_fw_seq3	TGG/TAG
chr22:31032881	snp_rv_seq3	CCA/CTA
chr22:31032881	func	silent
chr22:31032881	transcript	NM_001001479
chr22:31032881	genomic	.
chr22:31032881	codon	.
chr22:31032881	protein	.
chr22:31032881	worst	silent
chr22:31032881	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31032881	nvar	1
chr22:31032881	var	chr22:31032881:G/A
chr22:31032920	allele_ref	A
chr22:31032920	allele_alt	G
chr22:31032920	seqdb_ref	A
chr22:31032920	snp_fw_seq3	CAC/CGC
chr22:31032920	snp_rv_seq3	GTG/GCG
chr22:31032920	func	silent
chr22:31032920	transcript	NM_001001479
chr22:31032920	genomic	.
chr22:31032920	codon	.
chr22:31032920	protein	.
chr22:31032920	worst	silent
chr22:31032920	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31032920	nvar	1
chr22:31032920	var	chr22:31032920:A/G
chr22:31033016	allele_ref	C
chr22:31033016	allele_alt	T
chr22:31033016	seqdb_ref	C
chr22:31033016	snp_fw_seq3	TCG/TTG
chr22:31033016	snp_rv_seq3	CGA/CAA
chr22:31033016	func	silent
chr22:31033016	transcript	NM_001001479
chr22:31033016	genomic	.
chr22:31033016	codon	.
chr22:31033016	protein	.
chr22:31033016	worst	silent
chr22:31033016	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31033016	nvar	1
chr22:31033016	var	chr22:31033016:C/T
chr22:31060029	allele_ref	G
chr22:31060029	allele_alt	C
chr22:31060029	seqdb_ref	G
chr22:31060029	snp_fw_seq3	CGA/CCA
chr22:31060029	snp_rv_seq3	TCG/TGG
chr22:31060029	func	5-UTR
chr22:31060029	transcript	NM_152511
chr22:31060029	genomic	.
chr22:31060029	codon	.
chr22:31060029	protein	.
chr22:31060029	worst	UTR5
chr22:31060029	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:31060029	nvar	1
chr22:31060029	var	chr22:31060029:G/C
chr22:31091064	allele_ref	C
chr22:31091064	allele_alt	T
chr22:31091064	seqdb_ref	C
chr22:31091064	snp_fw_seq3	CCG/CTG
chr22:31091064	snp_rv_seq3	CGG/CAG
chr22:31091064	func	silent
chr22:31091064	transcript	NM_030758
chr22:31091064	genomic	.
chr22:31091064	codon	.
chr22:31091064	protein	.
chr22:31091064	worst	silent
chr22:31091064	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31091064	nvar	1
chr22:31091064	var	chr22:31091064:C/T
chr22:31091139	allele_ref	A
chr22:31091139	allele_alt	G
chr22:31091139	seqdb_ref	A
chr22:31091139	snp_fw_seq3	AAC/AGC
chr22:31091139	snp_rv_seq3	GTT/GCT
chr22:31091139	func	silent
chr22:31091139	transcript	NM_030758
chr22:31091139	genomic	.
chr22:31091139	codon	.
chr22:31091139	protein	.
chr22:31091139	worst	silent
chr22:31091139	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31091139	nvar	1
chr22:31091139	var	chr22:31091139:A/G
chr22:31091265	allele_ref	A
chr22:31091265	allele_alt	G
chr22:31091265	seqdb_ref	A
chr22:31091265	snp_fw_seq3	CAT/CGT
chr22:31091265	snp_rv_seq3	ATG/ACG
chr22:31091265	func	silent
chr22:31091265	transcript	NM_030758
chr22:31091265	genomic	.
chr22:31091265	codon	.
chr22:31091265	protein	.
chr22:31091265	worst	silent
chr22:31091265	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31091265	nvar	1
chr22:31091265	var	chr22:31091265:A/G
chr22:31266546	allele_ref	T
chr22:31266546	allele_alt	C
chr22:31266546	seqdb_ref	T
chr22:31266546	snp_fw_seq3	CTG/CCG
chr22:31266546	snp_rv_seq3	CAG/CGG
chr22:31266546	func	silent
chr22:31266546	transcript	NM_030758
chr22:31266546	genomic	.
chr22:31266546	codon	.
chr22:31266546	protein	.
chr22:31266546	worst	silent
chr22:31266546	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31266546	nvar	1
chr22:31266546	var	chr22:31266546:T/C
chr22:31283493	allele_ref	C
chr22:31283493	allele_alt	T
chr22:31283493	seqdb_ref	C
chr22:31283493	snp_fw_seq3	GCG/GTG
chr22:31283493	snp_rv_seq3	CGC/CAC
chr22:31283493	func	silent
chr22:31283493	transcript	NM_030758
chr22:31283493	genomic	.
chr22:31283493	codon	.
chr22:31283493	protein	.
chr22:31283493	worst	silent
chr22:31283493	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31283493	nvar	1
chr22:31283493	var	chr22:31283493:C/T
chr22:31285136	allele_ref	T
chr22:31285136	allele_alt	C
chr22:31285136	seqdb_ref	T
chr22:31285136	snp_fw_seq3	GTA/GCA
chr22:31285136	snp_rv_seq3	TAC/TGC
chr22:31285136	func	intronic
chr22:31285136	transcript	NM_030758
chr22:31285136	genomic	.
chr22:31285136	codon	.
chr22:31285136	protein	.
chr22:31285136	worst	intronic
chr22:31285136	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31285136	nvar	1
chr22:31285136	var	chr22:31285136:T/C
chr22:31286843	allele_ref	T
chr22:31286843	allele_alt	C
chr22:31286843	seqdb_ref	T
chr22:31286843	snp_fw_seq3	CTG/CCG
chr22:31286843	snp_rv_seq3	CAG/CGG
chr22:31286843	func	silent
chr22:31286843	transcript	NM_030758
chr22:31286843	genomic	.
chr22:31286843	codon	.
chr22:31286843	protein	.
chr22:31286843	worst	silent
chr22:31286843	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31286843	nvar	1
chr22:31286843	var	chr22:31286843:T/C
chr22:31289092	allele_ref	T
chr22:31289092	allele_alt	A
chr22:31289092	seqdb_ref	T
chr22:31289092	snp_fw_seq3	CTA/CAA
chr22:31289092	snp_rv_seq3	TAG/TTG
chr22:31289092	func	intronic
chr22:31289092	transcript	NM_030758
chr22:31289092	genomic	.
chr22:31289092	codon	.
chr22:31289092	protein	.
chr22:31289092	worst	intronic
chr22:31289092	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31289092	nvar	1
chr22:31289092	var	chr22:31289092:T/A
chr22:31289232	allele_ref	G
chr22:31289232	allele_alt	A
chr22:31289232	seqdb_ref	G
chr22:31289232	snp_fw_seq3	TGA/TAA
chr22:31289232	snp_rv_seq3	TCA/TTA
chr22:31289232	func	intronic,splice
chr22:31289232	annot_details	DIST=3,NMD=0,OFPTV=1,EXIN=9,ISEQ=GTGAGC,ESEQ=CGCTAG,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS9+3G>A
chr22:31289232	transcript	NM_030758,NM_030758
chr22:31289232	genomic	.,.
chr22:31289232	codon	.,.
chr22:31289232	protein	.,.
chr22:31289232	worst	splice
chr22:31289232	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31289232	nvar	1
chr22:31289232	var	chr22:31289232:G/A
chr22:31289923	allele_ref	C
chr22:31289923	allele_alt	T
chr22:31289923	seqdb_ref	C
chr22:31289923	snp_fw_seq3	ACG/ATG
chr22:31289923	snp_rv_seq3	CGT/CAT
chr22:31289923	func	silent
chr22:31289923	transcript	NM_030758
chr22:31289923	genomic	.
chr22:31289923	codon	.
chr22:31289923	protein	.
chr22:31289923	worst	silent
chr22:31289923	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31289923	nvar	1
chr22:31289923	var	chr22:31289923:C/T
chr22:31302233	allele_ref	T
chr22:31302233	allele_alt	C
chr22:31302233	seqdb_ref	T
chr22:31302233	snp_fw_seq3	ATC/ACC
chr22:31302233	snp_rv_seq3	GAT/GGT
chr22:31302233	func	silent
chr22:31302233	transcript	NM_030758
chr22:31302233	genomic	.
chr22:31302233	codon	.
chr22:31302233	protein	.
chr22:31302233	worst	silent
chr22:31302233	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31302233	nvar	1
chr22:31302233	var	chr22:31302233:T/C
chr22:31329056	allele_ref	G
chr22:31329056	allele_alt	C
chr22:31329056	seqdb_ref	G
chr22:31329056	snp_fw_seq3	CGT/CCT
chr22:31329056	snp_rv_seq3	ACG/AGG
chr22:31329056	func	intronic
chr22:31329056	transcript	NM_014941
chr22:31329056	genomic	.
chr22:31329056	codon	.
chr22:31329056	protein	.
chr22:31329056	worst	intronic
chr22:31329056	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31329056	nvar	1
chr22:31329056	var	chr22:31329056:G/C
chr22:31333631	allele_ref	T
chr22:31333631	allele_alt	C
chr22:31333631	seqdb_ref	T
chr22:31333631	snp_fw_seq3	ATG/ACG
chr22:31333631	snp_rv_seq3	CAT/CGT
chr22:31333631	func	silent
chr22:31333631	transcript	NM_014941
chr22:31333631	genomic	.
chr22:31333631	codon	.
chr22:31333631	protein	.
chr22:31333631	worst	silent
chr22:31333631	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31333631	nvar	1
chr22:31333631	var	chr22:31333631:T/C
chr22:31333747	allele_ref	T
chr22:31333747	allele_alt	C
chr22:31333747	seqdb_ref	T
chr22:31333747	snp_fw_seq3	CTC/CCC
chr22:31333747	snp_rv_seq3	GAG/GGG
chr22:31333747	func	intronic
chr22:31333747	transcript	NM_014941
chr22:31333747	genomic	.
chr22:31333747	codon	.
chr22:31333747	protein	.
chr22:31333747	worst	intronic
chr22:31333747	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31333747	nvar	1
chr22:31333747	var	chr22:31333747:T/C
chr22:31334011	allele_ref	A
chr22:31334011	allele_alt	G
chr22:31334011	seqdb_ref	A
chr22:31334011	snp_fw_seq3	CAA/CGA
chr22:31334011	snp_rv_seq3	TTG/TCG
chr22:31334011	func	intronic
chr22:31334011	transcript	NM_014941
chr22:31334011	genomic	.
chr22:31334011	codon	.
chr22:31334011	protein	.
chr22:31334011	worst	intronic
chr22:31334011	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31334011	nvar	1
chr22:31334011	var	chr22:31334011:A/G
chr22:31334218	allele_ref	G
chr22:31334218	allele_alt	T
chr22:31334218	seqdb_ref	G
chr22:31334218	snp_fw_seq3	AGA/ATA
chr22:31334218	snp_rv_seq3	TCT/TAT
chr22:31334218	func	intronic
chr22:31334218	transcript	NM_014941
chr22:31334218	genomic	.
chr22:31334218	codon	.
chr22:31334218	protein	.
chr22:31334218	worst	intronic
chr22:31334218	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31334218	nvar	1
chr22:31334218	var	chr22:31334218:G/T
chr22:31335724	allele_ref	T
chr22:31335724	allele_alt	A
chr22:31335724	seqdb_ref	T
chr22:31335724	snp_fw_seq3	GTG/GAG
chr22:31335724	snp_rv_seq3	CAC/CTC
chr22:31335724	func	intronic
chr22:31335724	transcript	NM_014941
chr22:31335724	genomic	.
chr22:31335724	codon	.
chr22:31335724	protein	.
chr22:31335724	worst	intronic
chr22:31335724	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31335724	nvar	1
chr22:31335724	var	chr22:31335724:T/A
chr22:31335967	allele_ref	T
chr22:31335967	allele_alt	A
chr22:31335967	seqdb_ref	T
chr22:31335967	snp_fw_seq3	CTC/CAC
chr22:31335967	snp_rv_seq3	GAG/GTG
chr22:31335967	func	silent
chr22:31335967	transcript	NM_014941
chr22:31335967	genomic	.
chr22:31335967	codon	.
chr22:31335967	protein	.
chr22:31335967	worst	silent
chr22:31335967	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31335967	nvar	1
chr22:31335967	var	chr22:31335967:T/A
chr22:31337589	allele_ref	A
chr22:31337589	allele_alt	G
chr22:31337589	seqdb_ref	A
chr22:31337589	snp_fw_seq3	AAC/AGC
chr22:31337589	snp_rv_seq3	GTT/GCT
chr22:31337589	func	intronic
chr22:31337589	transcript	NM_014941
chr22:31337589	genomic	.
chr22:31337589	codon	.
chr22:31337589	protein	.
chr22:31337589	worst	intronic
chr22:31337589	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31337589	nvar	1
chr22:31337589	var	chr22:31337589:A/G
chr22:31342376	allele_ref	G
chr22:31342376	allele_alt	C
chr22:31342376	seqdb_ref	G
chr22:31342376	snp_fw_seq3	AGG/ACG
chr22:31342376	snp_rv_seq3	CCT/CGT
chr22:31342376	func	silent
chr22:31342376	transcript	NM_014941
chr22:31342376	genomic	.
chr22:31342376	codon	.
chr22:31342376	protein	.
chr22:31342376	worst	silent
chr22:31342376	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31342376	nvar	1
chr22:31342376	var	chr22:31342376:G/C
chr22:31346345	allele_ref	A
chr22:31346345	allele_alt	G
chr22:31346345	seqdb_ref	A
chr22:31346345	snp_fw_seq3	CAA/CGA
chr22:31346345	snp_rv_seq3	TTG/TCG
chr22:31346345	func	intronic
chr22:31346345	transcript	NM_014941
chr22:31346345	genomic	.
chr22:31346345	codon	.
chr22:31346345	protein	.
chr22:31346345	worst	intronic
chr22:31346345	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31346345	nvar	1
chr22:31346345	var	chr22:31346345:A/G
chr22:31479234	allele_ref	G
chr22:31479234	allele_alt	A
chr22:31479234	seqdb_ref	G
chr22:31479234	snp_fw_seq3	GGG/GAG
chr22:31479234	snp_rv_seq3	CCC/CTC
chr22:31479234	func	missense,5-UTR,5-UTR,5-UTR
chr22:31479234	transcript	NM_001207017,NM_006932,NM_134269,NM_134270
chr22:31479234	genomic	g.152G>A,.,.,.
chr22:31479234	codon	c.152GGG>GAG,.,.,.
chr22:31479234	protein	p.51G>E,.,.,.
chr22:31479234	worst	missense
chr22:31479234	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=3,UTR3=0,npcRNA=0
chr22:31479234	nvar	1
chr22:31479234	var	chr22:31479234:G/A
chr22:31483934	allele_ref	T
chr22:31483934	allele_alt	C
chr22:31483934	seqdb_ref	T
chr22:31483934	snp_fw_seq3	CTC/CCC
chr22:31483934	snp_rv_seq3	GAG/GGG
chr22:31483934	func	intronic,intronic,intronic,intronic,intronic
chr22:31483934	transcript	NM_001207017,NM_001207018,NM_006932,NM_134269,NM_134270
chr22:31483934	genomic	.,.,.,.,.
chr22:31483934	codon	.,.,.,.,.
chr22:31483934	protein	.,.,.,.,.
chr22:31483934	worst	intronic
chr22:31483934	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31483934	nvar	1
chr22:31483934	var	chr22:31483934:T/C
chr22:31484604	allele_ref	G
chr22:31484604	allele_alt	T
chr22:31484604	seqdb_ref	G
chr22:31484604	snp_fw_seq3	GGC/GTC
chr22:31484604	snp_rv_seq3	GCC/GAC
chr22:31484604	func	intronic,intronic,intronic,intronic,intronic
chr22:31484604	transcript	NM_001207017,NM_001207018,NM_006932,NM_134269,NM_134270
chr22:31484604	genomic	.,.,.,.,.
chr22:31484604	codon	.,.,.,.,.
chr22:31484604	protein	.,.,.,.,.
chr22:31484604	worst	intronic
chr22:31484604	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31484604	nvar	1
chr22:31484604	var	chr22:31484604:G/T
chr22:31485923	allele_ref	C
chr22:31485923	allele_alt	T
chr22:31485923	seqdb_ref	C
chr22:31485923	snp_fw_seq3	CCC/CTC
chr22:31485923	snp_rv_seq3	GGG/GAG
chr22:31485923	func	missense,missense,missense,missense,missense
chr22:31485923	transcript	NM_001207017,NM_001207018,NM_006932,NM_134269,NM_134270
chr22:31485923	genomic	g.872C>T,g.878C>T,g.710C>T,g.710C>T,g.710C>T
chr22:31485923	codon	c.872CCC>CTC,c.878CCC>CTC,c.710CCC>CTC,c.710CCC>CTC,c.710CCC>CTC
chr22:31485923	protein	p.291P>L,p.293P>L,p.237P>L,p.237P>L,p.237P>L
chr22:31485923	worst	missense
chr22:31485923	class	missense,NON=0,SL=0,MIS=5,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31485923	nvar	1
chr22:31485923	var	chr22:31485923:C/T
chr22:31486760	allele_ref	C
chr22:31486760	allele_alt	T
chr22:31486760	seqdb_ref	C
chr22:31486760	snp_fw_seq3	CCC/CTC
chr22:31486760	snp_rv_seq3	GGG/GAG
chr22:31486760	func	intronic,intronic,intronic,intronic,intronic
chr22:31486760	transcript	NM_001207017,NM_001207018,NM_006932,NM_134269,NM_134270
chr22:31486760	genomic	.,.,.,.,.
chr22:31486760	codon	.,.,.,.,.
chr22:31486760	protein	.,.,.,.,.
chr22:31486760	worst	intronic
chr22:31486760	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31486760	nvar	1
chr22:31486760	var	chr22:31486760:C/T
chr22:31486774	allele_ref	C
chr22:31486774	allele_alt	A
chr22:31486774	seqdb_ref	C
chr22:31486774	snp_fw_seq3	ACC/AAC
chr22:31486774	snp_rv_seq3	GGT/GTT
chr22:31486774	func	intronic,intronic,intronic,intronic,intronic
chr22:31486774	transcript	NM_001207017,NM_001207018,NM_006932,NM_134269,NM_134270
chr22:31486774	genomic	.,.,.,.,.
chr22:31486774	codon	.,.,.,.,.
chr22:31486774	protein	.,.,.,.,.
chr22:31486774	worst	intronic
chr22:31486774	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31486774	nvar	1
chr22:31486774	var	chr22:31486774:C/A
chr22:31486911	allele_ref	C
chr22:31486911	allele_alt	G
chr22:31486911	seqdb_ref	C
chr22:31486911	snp_fw_seq3	CCC/CGC
chr22:31486911	snp_rv_seq3	GGG/GCG
chr22:31486911	func	intronic,intronic,intronic,intronic,intronic
chr22:31486911	transcript	NM_001207017,NM_001207018,NM_006932,NM_134269,NM_134270
chr22:31486911	genomic	.,.,.,.,.
chr22:31486911	codon	.,.,.,.,.
chr22:31486911	protein	.,.,.,.,.
chr22:31486911	worst	intronic
chr22:31486911	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31486911	nvar	1
chr22:31486911	var	chr22:31486911:C/G
chr22:31487682	allele_ref	C
chr22:31487682	allele_alt	T
chr22:31487682	seqdb_ref	C
chr22:31487682	snp_fw_seq3	GCG/GTG
chr22:31487682	snp_rv_seq3	CGC/CAC
chr22:31487682	func	missense,missense,missense,missense,missense
chr22:31487682	transcript	NM_001207017,NM_001207018,NM_006932,NM_134269,NM_134270
chr22:31487682	genomic	g.1643C>T,g.1649C>T,g.1481C>T,g.1481C>T,g.1481C>T
chr22:31487682	codon	c.1643GCG>GTG,c.1649GCG>GTG,c.1481GCG>GTG,c.1481GCG>GTG,c.1481GCG>GTG
chr22:31487682	protein	p.548A>V,p.550A>V,p.494A>V,p.494A>V,p.494A>V
chr22:31487682	worst	missense
chr22:31487682	class	missense,NON=0,SL=0,MIS=5,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31487682	nvar	1
chr22:31487682	var	chr22:31487682:C/T
chr22:31487693	allele_ref	C
chr22:31487693	allele_alt	T
chr22:31487693	seqdb_ref	C
chr22:31487693	snp_fw_seq3	CCT/CTT
chr22:31487693	snp_rv_seq3	AGG/AAG
chr22:31487693	func	silent,silent,silent,silent,silent
chr22:31487693	transcript	NM_001207017,NM_001207018,NM_006932,NM_134269,NM_134270
chr22:31487693	genomic	.,.,.,.,.
chr22:31487693	codon	.,.,.,.,.
chr22:31487693	protein	.,.,.,.,.
chr22:31487693	worst	silent
chr22:31487693	class	silent,NON=0,SL=0,MIS=0,SYN=5,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31487693	nvar	1
chr22:31487693	var	chr22:31487693:C/T
chr22:31487733	allele_ref	G
chr22:31487733	allele_alt	A
chr22:31487733	seqdb_ref	G
chr22:31487733	snp_fw_seq3	CGT/CAT
chr22:31487733	snp_rv_seq3	ACG/ATG
chr22:31487733	func	missense,missense,missense,missense,missense
chr22:31487733	transcript	NM_001207017,NM_001207018,NM_006932,NM_134269,NM_134270
chr22:31487733	genomic	g.1694G>A,g.1700G>A,g.1532G>A,g.1532G>A,g.1532G>A
chr22:31487733	codon	c.1694CGT>CAT,c.1700CGT>CAT,c.1532CGT>CAT,c.1532CGT>CAT,c.1532CGT>CAT
chr22:31487733	protein	p.565R>H,p.567R>H,p.511R>H,p.511R>H,p.511R>H
chr22:31487733	worst	missense
chr22:31487733	class	missense,NON=0,SL=0,MIS=5,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31487733	nvar	1
chr22:31487733	var	chr22:31487733:G/A
chr22:31491295	allele_ref	G
chr22:31491295	allele_alt	C
chr22:31491295	seqdb_ref	G
chr22:31491295	snp_fw_seq3	AGC/ACC
chr22:31491295	snp_rv_seq3	GCT/GGT
chr22:31491295	func	missense,missense,missense,missense,missense
chr22:31491295	transcript	NM_001207017,NM_001207018,NM_006932,NM_134269,NM_134270
chr22:31491295	genomic	g.1894G>C,g.1807G>C,g.1639G>C,g.1639G>C,g.1639G>C
chr22:31491295	codon	c.1894GCA>CCA,c.1807GCA>CCA,c.1639GCA>CCA,c.1639GCA>CCA,c.1639GCA>CCA
chr22:31491295	protein	p.632A>P,p.603A>P,p.547A>P,p.547A>P,p.547A>P
chr22:31491295	worst	missense
chr22:31491295	class	missense,NON=0,SL=0,MIS=5,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31491295	nvar	1
chr22:31491295	var	chr22:31491295:G/C
chr22:31491332	allele_ref	C
chr22:31491332	allele_alt	T
chr22:31491332	seqdb_ref	C
chr22:31491332	snp_fw_seq3	GCG/GTG
chr22:31491332	snp_rv_seq3	CGC/CAC
chr22:31491332	func	missense,missense,missense,missense,missense
chr22:31491332	transcript	NM_001207017,NM_001207018,NM_006932,NM_134269,NM_134270
chr22:31491332	genomic	g.1931C>T,g.1844C>T,g.1676C>T,g.1676C>T,g.1676C>T
chr22:31491332	codon	c.1931GCG>GTG,c.1844GCG>GTG,c.1676GCG>GTG,c.1676GCG>GTG,c.1676GCG>GTG
chr22:31491332	protein	p.644A>V,p.615A>V,p.559A>V,p.559A>V,p.559A>V
chr22:31491332	worst	missense
chr22:31491332	class	missense,NON=0,SL=0,MIS=5,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31491332	nvar	1
chr22:31491332	var	chr22:31491332:C/T
chr22:31492743	allele_ref	G
chr22:31492743	allele_alt	A
chr22:31492743	seqdb_ref	G
chr22:31492743	snp_fw_seq3	CGG/CAG
chr22:31492743	snp_rv_seq3	CCG/CTG
chr22:31492743	func	missense,missense,missense,missense,missense
chr22:31492743	transcript	NM_001207017,NM_001207018,NM_006932,NM_134269,NM_134270
chr22:31492743	genomic	g.2141G>A,g.2054G>A,g.1886G>A,g.1886G>A,g.1886G>A
chr22:31492743	codon	c.2141CGG>CAG,c.2054CGG>CAG,c.1886CGG>CAG,c.1886CGG>CAG,c.1886CGG>CAG
chr22:31492743	protein	p.714R>Q,p.685R>Q,p.629R>Q,p.629R>Q,p.629R>Q
chr22:31492743	worst	missense
chr22:31492743	class	missense,NON=0,SL=0,MIS=5,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31492743	nvar	1
chr22:31492743	var	chr22:31492743:G/A
chr22:31492781	allele_ref	C
chr22:31492781	allele_alt	T
chr22:31492781	seqdb_ref	C
chr22:31492781	snp_fw_seq3	GCG/GTG
chr22:31492781	snp_rv_seq3	CGC/CAC
chr22:31492781	func	missense,missense,missense,missense,missense
chr22:31492781	transcript	NM_001207017,NM_001207018,NM_006932,NM_134269,NM_134270
chr22:31492781	genomic	g.2179C>T,g.2092C>T,g.1924C>T,g.1924C>T,g.1924C>T
chr22:31492781	codon	c.2179CGC>TGC,c.2092CGC>TGC,c.1924CGC>TGC,c.1924CGC>TGC,c.1924CGC>TGC
chr22:31492781	protein	p.727R>C,p.698R>C,p.642R>C,p.642R>C,p.642R>C
chr22:31492781	worst	missense
chr22:31492781	class	missense,NON=0,SL=0,MIS=5,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31492781	nvar	1
chr22:31492781	var	chr22:31492781:C/T
chr22:31494813	allele_ref	G
chr22:31494813	allele_alt	C
chr22:31494813	seqdb_ref	G
chr22:31494813	snp_fw_seq3	GGA/GCA
chr22:31494813	snp_rv_seq3	TCC/TGC
chr22:31494813	func	missense,missense,missense,missense,missense
chr22:31494813	transcript	NM_001207017,NM_001207018,NM_006932,NM_134269,NM_134270
chr22:31494813	genomic	g.2575G>C,g.2488G>C,g.2320G>C,g.2320G>C,g.2320G>C
chr22:31494813	codon	c.2575GAG>CAG,c.2488GAG>CAG,c.2320GAG>CAG,c.2320GAG>CAG,c.2320GAG>CAG
chr22:31494813	protein	p.859E>Q,p.830E>Q,p.774E>Q,p.774E>Q,p.774E>Q
chr22:31494813	worst	missense
chr22:31494813	class	missense,NON=0,SL=0,MIS=5,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31494813	nvar	1
chr22:31494813	var	chr22:31494813:G/C
chr22:31494866	allele_ref	G
chr22:31494866	allele_alt	T
chr22:31494866	seqdb_ref	G
chr22:31494866	snp_fw_seq3	CGT/CTT
chr22:31494866	snp_rv_seq3	ACG/AAG
chr22:31494866	func	intronic,intronic,intronic,intronic,intronic
chr22:31494866	transcript	NM_001207017,NM_001207018,NM_006932,NM_134269,NM_134270
chr22:31494866	genomic	.,.,.,.,.
chr22:31494866	codon	.,.,.,.,.
chr22:31494866	protein	.,.,.,.,.
chr22:31494866	worst	intronic
chr22:31494866	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31494866	nvar	1
chr22:31494866	var	chr22:31494866:G/T
chr22:31496837	allele_ref	C
chr22:31496837	allele_alt	A
chr22:31496837	seqdb_ref	c
chr22:31496837	snp_fw_seq3	tcc/tAc
chr22:31496837	snp_rv_seq3	gga/gTa
chr22:31496837	func	intronic,intronic,intronic,intronic,intronic
chr22:31496837	transcript	NM_001207017,NM_001207018,NM_006932,NM_134269,NM_134270
chr22:31496837	genomic	.,.,.,.,.
chr22:31496837	codon	.,.,.,.,.
chr22:31496837	protein	.,.,.,.,.
chr22:31496837	worst	intronic
chr22:31496837	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31496837	nvar	1
chr22:31496837	var	chr22:31496837:C/A
chr22:31497054	allele_ref	A
chr22:31497054	allele_alt	C
chr22:31497054	seqdb_ref	A
chr22:31497054	snp_fw_seq3	TAC/TCC
chr22:31497054	snp_rv_seq3	GTA/GGA
chr22:31497054	func	intronic,intronic,intronic,intronic,intronic
chr22:31497054	transcript	NM_001207017,NM_001207018,NM_006932,NM_134269,NM_134270
chr22:31497054	genomic	.,.,.,.,.
chr22:31497054	codon	.,.,.,.,.
chr22:31497054	protein	.,.,.,.,.
chr22:31497054	worst	intronic
chr22:31497054	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31497054	nvar	1
chr22:31497054	var	chr22:31497054:A/C
chr22:31500260	allele_ref	G
chr22:31500260	allele_alt	A
chr22:31500260	seqdb_ref	G
chr22:31500260	snp_fw_seq3	CGG/CAG
chr22:31500260	snp_rv_seq3	CCG/CTG
chr22:31500260	func	intronic,intronic,intronic,intronic,intronic
chr22:31500260	transcript	NM_001207017,NM_001207018,NM_006932,NM_134269,NM_134270
chr22:31500260	genomic	.,.,.,.,.
chr22:31500260	codon	.,.,.,.,.
chr22:31500260	protein	.,.,.,.,.
chr22:31500260	worst	intronic
chr22:31500260	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31500260	nvar	1
chr22:31500260	var	chr22:31500260:G/A
chr22:31501121	allele_ref	C
chr22:31501121	allele_alt	T
chr22:31501121	seqdb_ref	C
chr22:31501121	snp_fw_seq3	GCG/GTG
chr22:31501121	snp_rv_seq3	CGC/CAC
chr22:31501121	func	intronic
chr22:31501121	transcript	NM_080430
chr22:31501121	genomic	.
chr22:31501121	codon	.
chr22:31501121	protein	.
chr22:31501121	worst	intronic
chr22:31501121	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31501121	nvar	1
chr22:31501121	var	chr22:31501121:C/T
chr22:31501285	allele_ref	T
chr22:31501285	allele_alt	G
chr22:31501285	seqdb_ref	T
chr22:31501285	snp_fw_seq3	GTT/GGT
chr22:31501285	snp_rv_seq3	AAC/ACC
chr22:31501285	func	intronic
chr22:31501285	transcript	NM_080430
chr22:31501285	genomic	.
chr22:31501285	codon	.
chr22:31501285	protein	.
chr22:31501285	worst	intronic
chr22:31501285	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31501285	nvar	1
chr22:31501285	var	chr22:31501285:T/G
chr22:31523492	allele_ref	G
chr22:31523492	allele_alt	A
chr22:31523492	seqdb_ref	G
chr22:31523492	snp_fw_seq3	CGG/CAG
chr22:31523492	snp_rv_seq3	CCG/CTG
chr22:31523492	func	silent
chr22:31523492	transcript	NM_001002837
chr22:31523492	genomic	.
chr22:31523492	codon	.
chr22:31523492	protein	.
chr22:31523492	worst	silent
chr22:31523492	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31523492	nvar	1
chr22:31523492	var	chr22:31523492:G/A
chr22:31529043	allele_ref	C
chr22:31529043	allele_alt	A
chr22:31529043	seqdb_ref	C
chr22:31529043	snp_fw_seq3	TCT/TAT
chr22:31529043	snp_rv_seq3	AGA/ATA
chr22:31529043	func	intronic
chr22:31529043	transcript	NM_001002837
chr22:31529043	genomic	.
chr22:31529043	codon	.
chr22:31529043	protein	.
chr22:31529043	worst	intronic
chr22:31529043	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31529043	nvar	1
chr22:31529043	var	chr22:31529043:C/A
chr22:31529142	allele_ref	G
chr22:31529142	allele_alt	A
chr22:31529142	seqdb_ref	G
chr22:31529142	snp_fw_seq3	CGG/CAG
chr22:31529142	snp_rv_seq3	CCG/CTG
chr22:31529142	func	missense
chr22:31529142	transcript	NM_001002837
chr22:31529142	genomic	g.1148G>A
chr22:31529142	codon	c.1148CGG>CAG
chr22:31529142	protein	p.383R>Q
chr22:31529142	worst	missense
chr22:31529142	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31529142	nvar	1
chr22:31529142	var	chr22:31529142:G/A
chr22:31529353	allele_ref	T
chr22:31529353	allele_alt	C
chr22:31529353	seqdb_ref	T
chr22:31529353	snp_fw_seq3	ATA/ACA
chr22:31529353	snp_rv_seq3	TAT/TGT
chr22:31529353	func	intronic
chr22:31529353	transcript	NM_001002837
chr22:31529353	genomic	.
chr22:31529353	codon	.
chr22:31529353	protein	.
chr22:31529353	worst	intronic
chr22:31529353	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31529353	nvar	1
chr22:31529353	var	chr22:31529353:T/C
chr22:31529463	allele_ref	C
chr22:31529463	allele_alt	A
chr22:31529463	seqdb_ref	C
chr22:31529463	snp_fw_seq3	CCT/CAT
chr22:31529463	snp_rv_seq3	AGG/ATG
chr22:31529463	func	silent
chr22:31529463	transcript	NM_001002837
chr22:31529463	genomic	.
chr22:31529463	codon	.
chr22:31529463	protein	.
chr22:31529463	worst	silent
chr22:31529463	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31529463	nvar	1
chr22:31529463	var	chr22:31529463:C/A
chr22:31529679	allele_ref	C
chr22:31529679	allele_alt	T
chr22:31529679	seqdb_ref	C
chr22:31529679	snp_fw_seq3	TCG/TTG
chr22:31529679	snp_rv_seq3	CGA/CAA
chr22:31529679	func	silent
chr22:31529679	transcript	NM_001002837
chr22:31529679	genomic	.
chr22:31529679	codon	.
chr22:31529679	protein	.
chr22:31529679	worst	silent
chr22:31529679	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31529679	nvar	1
chr22:31529679	var	chr22:31529679:C/T
chr22:31529903	allele_ref	C
chr22:31529903	allele_alt	T
chr22:31529903	seqdb_ref	C
chr22:31529903	snp_fw_seq3	TCG/TTG
chr22:31529903	snp_rv_seq3	CGA/CAA
chr22:31529903	func	splice,missense
chr22:31529903	annot_details	DIST=4,NMD=0,OFPTV=1,EXIN=13,ISEQ=CCCCAG,ESEQ=ATCTCG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS13+4C>T
chr22:31529903	transcript	NM_001002837,NM_001002837
chr22:31529903	genomic	.,g.1415C>T
chr22:31529903	codon	.,c.1415TCG>TTG
chr22:31529903	protein	.,p.472S>L
chr22:31529903	worst	missense
chr22:31529903	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31529903	nvar	1
chr22:31529903	var	chr22:31529903:C/T
chr22:31530073	allele_ref	C
chr22:31530073	allele_alt	T
chr22:31530073	seqdb_ref	C
chr22:31530073	snp_fw_seq3	GCT/GTT
chr22:31530073	snp_rv_seq3	AGC/AAC
chr22:31530073	func	missense
chr22:31530073	transcript	NM_001002837
chr22:31530073	genomic	g.1585C>T
chr22:31530073	codon	c.1585CTT>TTT
chr22:31530073	protein	p.529L>F
chr22:31530073	worst	missense
chr22:31530073	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31530073	nvar	1
chr22:31530073	var	chr22:31530073:C/T
chr22:31530271	allele_ref	G
chr22:31530271	allele_alt	A
chr22:31530271	seqdb_ref	G
chr22:31530271	snp_fw_seq3	CGC/CAC
chr22:31530271	snp_rv_seq3	GCG/GTG
chr22:31530271	func	missense
chr22:31530271	transcript	NM_001002837
chr22:31530271	genomic	g.1783G>A
chr22:31530271	codon	c.1783GCC>ACC
chr22:31530271	protein	p.595A>T
chr22:31530271	worst	missense
chr22:31530271	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31530271	nvar	1
chr22:31530271	var	chr22:31530271:G/A
chr22:31530308	allele_ref	G
chr22:31530308	allele_alt	A
chr22:31530308	seqdb_ref	G
chr22:31530308	snp_fw_seq3	GGC/GAC
chr22:31530308	snp_rv_seq3	GCC/GTC
chr22:31530308	func	missense
chr22:31530308	transcript	NM_001002837
chr22:31530308	genomic	g.1820G>A
chr22:31530308	codon	c.1820GGC>GAC
chr22:31530308	protein	p.607G>D
chr22:31530308	worst	missense
chr22:31530308	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31530308	nvar	1
chr22:31530308	var	chr22:31530308:G/A
chr22:31531788	allele_ref	A
chr22:31531788	allele_alt	C
chr22:31531788	seqdb_ref	A
chr22:31531788	snp_fw_seq3	CAT/CCT
chr22:31531788	snp_rv_seq3	ATG/AGG
chr22:31531788	func	missense
chr22:31531788	transcript	NM_015715
chr22:31531788	genomic	g.1451A>C
chr22:31531788	codon	c.1451ATG>AGG
chr22:31531788	protein	p.484M>R
chr22:31531788	worst	missense
chr22:31531788	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31531788	nvar	1
chr22:31531788	var	chr22:31531788:A/C
chr22:31531849	allele_ref	G
chr22:31531849	allele_alt	A
chr22:31531849	seqdb_ref	G
chr22:31531849	snp_fw_seq3	AGC/AAC
chr22:31531849	snp_rv_seq3	GCT/GTT
chr22:31531849	func	missense
chr22:31531849	transcript	NM_015715
chr22:31531849	genomic	g.1390G>A
chr22:31531849	codon	c.1390CTC>TTC
chr22:31531849	protein	p.464L>F
chr22:31531849	worst	missense
chr22:31531849	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31531849	nvar	1
chr22:31531849	var	chr22:31531849:G/A
chr22:31532697	allele_ref	G
chr22:31532697	allele_alt	A
chr22:31532697	seqdb_ref	G
chr22:31532697	snp_fw_seq3	GGG/GAG
chr22:31532697	snp_rv_seq3	CCC/CTC
chr22:31532697	func	missense
chr22:31532697	transcript	NM_015715
chr22:31532697	genomic	g.1288G>A
chr22:31532697	codon	c.1288CCT>TCT
chr22:31532697	protein	p.430P>S
chr22:31532697	worst	missense
chr22:31532697	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31532697	nvar	1
chr22:31532697	var	chr22:31532697:G/A
chr22:31532870	allele_ref	C
chr22:31532870	allele_alt	T
chr22:31532870	seqdb_ref	C
chr22:31532870	snp_fw_seq3	CCG/CTG
chr22:31532870	snp_rv_seq3	CGG/CAG
chr22:31532870	func	intronic
chr22:31532870	transcript	NM_015715
chr22:31532870	genomic	.
chr22:31532870	codon	.
chr22:31532870	protein	.
chr22:31532870	worst	intronic
chr22:31532870	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31532870	nvar	1
chr22:31532870	var	chr22:31532870:C/T
chr22:31532960	allele_ref	C
chr22:31532960	allele_alt	T
chr22:31532960	seqdb_ref	C
chr22:31532960	snp_fw_seq3	CCG/CTG
chr22:31532960	snp_rv_seq3	CGG/CAG
chr22:31532960	func	missense
chr22:31532960	transcript	NM_015715
chr22:31532960	genomic	g.1133C>T
chr22:31532960	codon	c.1133CGG>CAG
chr22:31532960	protein	p.378R>Q
chr22:31532960	worst	missense
chr22:31532960	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31532960	nvar	1
chr22:31532960	var	chr22:31532960:C/T
chr22:31533952	allele_ref	G
chr22:31533952	allele_alt	A
chr22:31533952	seqdb_ref	G
chr22:31533952	snp_fw_seq3	CGA/CAA
chr22:31533952	snp_rv_seq3	TCG/TTG
chr22:31533952	func	silent
chr22:31533952	transcript	NM_015715
chr22:31533952	genomic	.
chr22:31533952	codon	.
chr22:31533952	protein	.
chr22:31533952	worst	silent
chr22:31533952	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31533952	nvar	1
chr22:31533952	var	chr22:31533952:G/A
chr22:31533967	allele_ref	G
chr22:31533967	allele_alt	A
chr22:31533967	seqdb_ref	G
chr22:31533967	snp_fw_seq3	CGT/CAT
chr22:31533967	snp_rv_seq3	ACG/ATG
chr22:31533967	func	silent
chr22:31533967	transcript	NM_015715
chr22:31533967	genomic	.
chr22:31533967	codon	.
chr22:31533967	protein	.
chr22:31533967	worst	silent
chr22:31533967	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31533967	nvar	1
chr22:31533967	var	chr22:31533967:G/A
chr22:31535777	allele_ref	C
chr22:31535777	allele_alt	G
chr22:31535777	seqdb_ref	c
chr22:31535777	snp_fw_seq3	acc/aGc
chr22:31535777	snp_rv_seq3	ggt/gCt
chr22:31535777	func	intronic
chr22:31535777	transcript	NM_015715
chr22:31535777	genomic	.
chr22:31535777	codon	.
chr22:31535777	protein	.
chr22:31535777	worst	intronic
chr22:31535777	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31535777	nvar	1
chr22:31535777	var	chr22:31535777:C/G
chr22:31535808	allele_ref	C
chr22:31535808	allele_alt	T
chr22:31535808	seqdb_ref	c
chr22:31535808	snp_fw_seq3	aca/aTa
chr22:31535808	snp_rv_seq3	tgt/tAt
chr22:31535808	func	intronic
chr22:31535808	transcript	NM_015715
chr22:31535808	genomic	.
chr22:31535808	codon	.
chr22:31535808	protein	.
chr22:31535808	worst	intronic
chr22:31535808	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31535808	nvar	1
chr22:31535808	var	chr22:31535808:C/T
chr22:31535981	allele_ref	C
chr22:31535981	allele_alt	T
chr22:31535981	seqdb_ref	C
chr22:31535981	snp_fw_seq3	GCG/GTG
chr22:31535981	snp_rv_seq3	CGC/CAC
chr22:31535981	func	silent
chr22:31535981	transcript	NM_015715
chr22:31535981	genomic	.
chr22:31535981	codon	.
chr22:31535981	protein	.
chr22:31535981	worst	silent
chr22:31535981	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31535981	nvar	1
chr22:31535981	var	chr22:31535981:C/T
chr22:31535995	allele_ref	C
chr22:31535995	allele_alt	G
chr22:31535995	seqdb_ref	C
chr22:31535995	snp_fw_seq3	TCC/TGC
chr22:31535995	snp_rv_seq3	GGA/GCA
chr22:31535995	func	missense
chr22:31535995	transcript	NM_015715
chr22:31535995	genomic	g.346C>G
chr22:31535995	codon	c.346GAG>CAG
chr22:31535995	protein	p.116E>Q
chr22:31535995	worst	missense
chr22:31535995	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31535995	nvar	1
chr22:31535995	var	chr22:31535995:C/G
chr22:31536005	allele_ref	C
chr22:31536005	allele_alt	G
chr22:31536005	seqdb_ref	C
chr22:31536005	snp_fw_seq3	TCT/TGT
chr22:31536005	snp_rv_seq3	AGA/ACA
chr22:31536005	func	missense
chr22:31536005	transcript	NM_015715
chr22:31536005	genomic	g.336C>G
chr22:31536005	codon	c.336CAG>CAC
chr22:31536005	protein	p.112Q>H
chr22:31536005	worst	missense
chr22:31536005	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31536005	nvar	1
chr22:31536005	var	chr22:31536005:C/G
chr22:31536133	allele_ref	A
chr22:31536133	allele_alt	C
chr22:31536133	seqdb_ref	A
chr22:31536133	snp_fw_seq3	GAC/GCC
chr22:31536133	snp_rv_seq3	GTC/GGC
chr22:31536133	func	missense
chr22:31536133	transcript	NM_015715
chr22:31536133	genomic	g.208A>C
chr22:31536133	codon	c.208TCA>GCA
chr22:31536133	protein	p.70S>A
chr22:31536133	worst	missense
chr22:31536133	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31536133	nvar	1
chr22:31536133	var	chr22:31536133:A/C
chr22:31536232	allele_ref	C
chr22:31536232	allele_alt	T
chr22:31536232	seqdb_ref	C
chr22:31536232	snp_fw_seq3	ACG/ATG
chr22:31536232	snp_rv_seq3	CGT/CAT
chr22:31536232	func	missense
chr22:31536232	transcript	NM_015715
chr22:31536232	genomic	g.109C>T
chr22:31536232	codon	c.109GTC>ATC
chr22:31536232	protein	p.37V>I
chr22:31536232	worst	missense
chr22:31536232	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31536232	nvar	1
chr22:31536232	var	chr22:31536232:C/T
chr22:31583300	allele_ref	T
chr22:31583300	allele_alt	G
chr22:31583300	seqdb_ref	T
chr22:31583300	snp_fw_seq3	TTG/TGG
chr22:31583300	snp_rv_seq3	CAA/CCA
chr22:31583300	func	intronic,intronic,intronic,intronic,intronic,intronic
chr22:31583300	transcript	NM_001135825,NM_152267,NR_024209,NR_024210,NR_024211,NR_024212
chr22:31583300	genomic	.,.,.,.,.,.
chr22:31583300	codon	.,.,.,.,.,.
chr22:31583300	protein	.,.,.,.,.,.
chr22:31583300	worst	intronic
chr22:31583300	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=6,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31583300	nvar	1
chr22:31583300	var	chr22:31583300:T/G
chr22:31583301	allele_ref	G
chr22:31583301	allele_alt	A
chr22:31583301	seqdb_ref	G
chr22:31583301	snp_fw_seq3	TGG/TAG
chr22:31583301	snp_rv_seq3	CCA/CTA
chr22:31583301	func	intronic,intronic,intronic,intronic,intronic,intronic
chr22:31583301	transcript	NM_001135825,NM_152267,NR_024209,NR_024210,NR_024211,NR_024212
chr22:31583301	genomic	.,.,.,.,.,.
chr22:31583301	codon	.,.,.,.,.,.
chr22:31583301	protein	.,.,.,.,.,.
chr22:31583301	worst	intronic
chr22:31583301	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=6,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31583301	nvar	1
chr22:31583301	var	chr22:31583301:G/A
chr22:31597434	allele_ref	G
chr22:31597434	allele_alt	A
chr22:31597434	seqdb_ref	G
chr22:31597434	snp_fw_seq3	AGG/AAG
chr22:31597434	snp_rv_seq3	CCT/CTT
chr22:31597434	func	intronic,intronic,intronic,intronic,intronic,intronic
chr22:31597434	transcript	NM_001135825,NM_152267,NR_024209,NR_024210,NR_024211,NR_024212
chr22:31597434	genomic	.,.,.,.,.,.
chr22:31597434	codon	.,.,.,.,.,.
chr22:31597434	protein	.,.,.,.,.,.
chr22:31597434	worst	intronic
chr22:31597434	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=6,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31597434	nvar	1
chr22:31597434	var	chr22:31597434:G/A
chr22:31600460	allele_ref	T
chr22:31600460	allele_alt	C
chr22:31600460	seqdb_ref	T
chr22:31600460	snp_fw_seq3	CTT/CCT
chr22:31600460	snp_rv_seq3	AAG/AGG
chr22:31600460	func	intronic,intronic,intronic,intronic,intronic,intronic
chr22:31600460	transcript	NM_001135825,NM_152267,NR_024209,NR_024210,NR_024211,NR_024212
chr22:31600460	genomic	.,.,.,.,.,.
chr22:31600460	codon	.,.,.,.,.,.
chr22:31600460	protein	.,.,.,.,.,.
chr22:31600460	worst	intronic
chr22:31600460	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=6,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31600460	nvar	1
chr22:31600460	var	chr22:31600460:T/C
chr22:31608400	allele_ref	C
chr22:31608400	allele_alt	T
chr22:31608400	seqdb_ref	C
chr22:31608400	snp_fw_seq3	CCG/CTG
chr22:31608400	snp_rv_seq3	CGG/CAG
chr22:31608400	func	silent
chr22:31608400	transcript	NM_005569
chr22:31608400	genomic	.
chr22:31608400	codon	.
chr22:31608400	protein	.
chr22:31608400	worst	silent
chr22:31608400	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31608400	nvar	1
chr22:31608400	var	chr22:31608400:C/T
chr22:31621683	allele_ref	C
chr22:31621683	allele_alt	G
chr22:31621683	seqdb_ref	C
chr22:31621683	snp_fw_seq3	TCA/TGA
chr22:31621683	snp_rv_seq3	TGA/TCA
chr22:31621683	func	intronic
chr22:31621683	transcript	NM_005569
chr22:31621683	genomic	.
chr22:31621683	codon	.
chr22:31621683	protein	.
chr22:31621683	worst	intronic
chr22:31621683	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31621683	nvar	1
chr22:31621683	var	chr22:31621683:C/G
chr22:31621792	allele_ref	G
chr22:31621792	allele_alt	A
chr22:31621792	seqdb_ref	G
chr22:31621792	snp_fw_seq3	CGG/CAG
chr22:31621792	snp_rv_seq3	CCG/CTG
chr22:31621792	func	missense
chr22:31621792	transcript	NM_005569
chr22:31621792	genomic	g.103G>A
chr22:31621792	codon	c.103GGC>AGC
chr22:31621792	protein	p.35G>S
chr22:31621792	worst	missense
chr22:31621792	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31621792	nvar	1
chr22:31621792	var	chr22:31621792:G/A
chr22:31644710	allele_ref	G
chr22:31644710	allele_alt	A
chr22:31644710	seqdb_ref	G
chr22:31644710	snp_fw_seq3	AGT/AAT
chr22:31644710	snp_rv_seq3	ACT/ATT
chr22:31644710	func	missense,intronic,missense
chr22:31644710	transcript	NM_001031801,NM_005569,NM_016733
chr22:31644710	genomic	g.8G>A,.,g.8G>A
chr22:31644710	codon	c.8AGT>AAT,.,c.8AGT>AAT
chr22:31644710	protein	p.3S>N,.,p.3S>N
chr22:31644710	worst	missense
chr22:31644710	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31644710	nvar	1
chr22:31644710	var	chr22:31644710:G/A
chr22:31663842	allele_ref	C
chr22:31663842	allele_alt	G
chr22:31663842	seqdb_ref	C
chr22:31663842	snp_fw_seq3	TCC/TGC
chr22:31663842	snp_rv_seq3	GGA/GCA
chr22:31663842	func	silent,silent,silent
chr22:31663842	transcript	NM_001031801,NM_005569,NM_016733
chr22:31663842	genomic	.,.,.
chr22:31663842	codon	.,.,.
chr22:31663842	protein	.,.,.
chr22:31663842	worst	silent
chr22:31663842	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31663842	nvar	1
chr22:31663842	var	chr22:31663842:C/G
chr22:31663875	allele_ref	G
chr22:31663875	allele_alt	A
chr22:31663875	seqdb_ref	G
chr22:31663875	snp_fw_seq3	AGG/AAG
chr22:31663875	snp_rv_seq3	CCT/CTT
chr22:31663875	func	silent,silent,silent
chr22:31663875	transcript	NM_001031801,NM_005569,NM_016733
chr22:31663875	genomic	.,.,.
chr22:31663875	codon	.,.,.
chr22:31663875	protein	.,.,.
chr22:31663875	worst	silent
chr22:31663875	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31663875	nvar	1
chr22:31663875	var	chr22:31663875:G/A
chr22:31664213	allele_ref	C
chr22:31664213	allele_alt	A
chr22:31664213	seqdb_ref	C
chr22:31664213	snp_fw_seq3	GCA/GAA
chr22:31664213	snp_rv_seq3	TGC/TTC
chr22:31664213	func	intronic,intronic,intronic
chr22:31664213	transcript	NM_001031801,NM_005569,NM_016733
chr22:31664213	genomic	.,.,.
chr22:31664213	codon	.,.,.
chr22:31664213	protein	.,.,.
chr22:31664213	worst	intronic
chr22:31664213	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31664213	nvar	1
chr22:31664213	var	chr22:31664213:C/A
chr22:31668720	allele_ref	C
chr22:31668720	allele_alt	T
chr22:31668720	seqdb_ref	C
chr22:31668720	snp_fw_seq3	CCG/CTG
chr22:31668720	snp_rv_seq3	CGG/CAG
chr22:31668720	func	intronic,intronic,intronic
chr22:31668720	transcript	NM_001031801,NM_005569,NM_016733
chr22:31668720	genomic	.,.,.
chr22:31668720	codon	.,.,.
chr22:31668720	protein	.,.,.
chr22:31668720	worst	intronic
chr22:31668720	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31668720	nvar	1
chr22:31668720	var	chr22:31668720:C/T
chr22:31673111	allele_ref	A
chr22:31673111	allele_alt	G
chr22:31673111	seqdb_ref	A
chr22:31673111	snp_fw_seq3	CAC/CGC
chr22:31673111	snp_rv_seq3	GTG/GCG
chr22:31673111	func	silent,intronic,intronic
chr22:31673111	transcript	NM_001031801,NM_005569,NM_016733
chr22:31673111	genomic	.,.,.
chr22:31673111	codon	.,.,.
chr22:31673111	protein	.,.,.
chr22:31673111	worst	silent
chr22:31673111	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31673111	nvar	1
chr22:31673111	var	chr22:31673111:A/G
chr22:31673116	allele_ref	A
chr22:31673116	allele_alt	G
chr22:31673116	seqdb_ref	A
chr22:31673116	snp_fw_seq3	CAG/CGG
chr22:31673116	snp_rv_seq3	CTG/CCG
chr22:31673116	func	missense,intronic,intronic
chr22:31673116	transcript	NM_001031801,NM_005569,NM_016733
chr22:31673116	genomic	g.2051A>G,.,.
chr22:31673116	codon	c.2051CAG>CGG,.,.
chr22:31673116	protein	p.684Q>R,.,.
chr22:31673116	worst	missense
chr22:31673116	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31673116	nvar	1
chr22:31673116	var	chr22:31673116:A/G
chr22:31674299	allele_ref	T
chr22:31674299	allele_alt	C
chr22:31674299	seqdb_ref	T
chr22:31674299	snp_fw_seq3	ATT/ACT
chr22:31674299	snp_rv_seq3	AAT/AGT
chr22:31674299	func	silent,silent
chr22:31674299	transcript	NM_005569,NM_016733
chr22:31674299	genomic	.,.
chr22:31674299	codon	.,.
chr22:31674299	protein	.,.
chr22:31674299	worst	silent
chr22:31674299	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31674299	nvar	1
chr22:31674299	var	chr22:31674299:T/C
chr22:31674453	allele_ref	G
chr22:31674453	allele_alt	T
chr22:31674453	seqdb_ref	G
chr22:31674453	snp_fw_seq3	GGT/GTT
chr22:31674453	snp_rv_seq3	ACC/AAC
chr22:31674453	func	3-UTR,3-UTR
chr22:31674453	transcript	NM_005569,NM_016733
chr22:31674453	genomic	.,.
chr22:31674453	codon	.,.
chr22:31674453	protein	.,.
chr22:31674453	worst	UTR3
chr22:31674453	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:31674453	nvar	1
chr22:31674453	var	chr22:31674453:G/T
chr22:31679110	allele_ref	G
chr22:31679110	allele_alt	C
chr22:31679110	seqdb_ref	G
chr22:31679110	snp_fw_seq3	GGT/GCT
chr22:31679110	snp_rv_seq3	ACC/AGC
chr22:31679110	func	3-UTR,missense
chr22:31679110	transcript	NM_001135911,NM_052880
chr22:31679110	genomic	.,g.752G>C
chr22:31679110	codon	.,c.752ACC>AGC
chr22:31679110	protein	.,p.251T>S
chr22:31679110	worst	missense
chr22:31679110	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:31679110	nvar	1
chr22:31679110	var	chr22:31679110:G/C
chr22:31685256	allele_ref	C
chr22:31685256	allele_alt	G
chr22:31685256	seqdb_ref	C
chr22:31685256	snp_fw_seq3	CCT/CGT
chr22:31685256	snp_rv_seq3	AGG/ACG
chr22:31685256	func	intronic,intronic
chr22:31685256	transcript	NM_001135911,NM_052880
chr22:31685256	genomic	.,.
chr22:31685256	codon	.,.
chr22:31685256	protein	.,.
chr22:31685256	worst	intronic
chr22:31685256	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31685256	nvar	1
chr22:31685256	var	chr22:31685256:C/G
chr22:31685458	allele_ref	G
chr22:31685458	allele_alt	A
chr22:31685458	seqdb_ref	G
chr22:31685458	snp_fw_seq3	CGA/CAA
chr22:31685458	snp_rv_seq3	TCG/TTG
chr22:31685458	func	intronic,intronic
chr22:31685458	transcript	NM_001135911,NM_052880
chr22:31685458	genomic	.,.
chr22:31685458	codon	.,.
chr22:31685458	protein	.,.
chr22:31685458	worst	intronic
chr22:31685458	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31685458	nvar	1
chr22:31685458	var	chr22:31685458:G/A
chr22:31687313	allele_ref	A
chr22:31687313	allele_alt	G
chr22:31687313	seqdb_ref	A
chr22:31687313	snp_fw_seq3	AAT/AGT
chr22:31687313	snp_rv_seq3	ATT/ACT
chr22:31687313	func	intronic,intronic
chr22:31687313	transcript	NM_001135911,NM_052880
chr22:31687313	genomic	.,.
chr22:31687313	codon	.,.
chr22:31687313	protein	.,.
chr22:31687313	worst	intronic
chr22:31687313	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31687313	nvar	1
chr22:31687313	var	chr22:31687313:A/G
chr22:31688288	allele_ref	G
chr22:31688288	allele_alt	A
chr22:31688288	seqdb_ref	G
chr22:31688288	snp_fw_seq3	AGC/AAC
chr22:31688288	snp_rv_seq3	GCT/GTT
chr22:31688288	func	missense,missense
chr22:31688288	transcript	NM_001135911,NM_052880
chr22:31688288	genomic	g.43G>A,g.43G>A
chr22:31688288	codon	c.43CTC>TTC,c.43CTC>TTC
chr22:31688288	protein	p.15L>F,p.15L>F
chr22:31688288	worst	missense
chr22:31688288	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31688288	nvar	1
chr22:31688288	var	chr22:31688288:G/A
chr22:31722886	allele_ref	T
chr22:31722886	allele_alt	G
chr22:31722886	seqdb_ref	T
chr22:31722886	snp_fw_seq3	CTT/CGT
chr22:31722886	snp_rv_seq3	AAG/ACG
chr22:31722886	func	missense,missense,3-UTR
chr22:31722886	transcript	NM_014323,NM_032050,NM_032052
chr22:31722886	genomic	g.2055T>G,g.1917T>G,.
chr22:31722886	codon	c.2055GAA>GAC,c.1917GAA>GAC,.
chr22:31722886	protein	p.685E>D,p.639E>D,.
chr22:31722886	worst	missense
chr22:31722886	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:31722886	nvar	1
chr22:31722886	var	chr22:31722886:T/G
chr22:31723054	allele_ref	G
chr22:31723054	allele_alt	A
chr22:31723054	seqdb_ref	G
chr22:31723054	snp_fw_seq3	GGA/GAA
chr22:31723054	snp_rv_seq3	TCC/TTC
chr22:31723054	func	silent,silent,3-UTR
chr22:31723054	transcript	NM_014323,NM_032050,NM_032052
chr22:31723054	genomic	.,.,.
chr22:31723054	codon	.,.,.
chr22:31723054	protein	.,.,.
chr22:31723054	worst	silent
chr22:31723054	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:31723054	nvar	1
chr22:31723054	var	chr22:31723054:G/A
chr22:31737436	allele_ref	G
chr22:31737436	allele_alt	A
chr22:31737436	seqdb_ref	G
chr22:31737436	snp_fw_seq3	TGG/TAG
chr22:31737436	snp_rv_seq3	CCA/CTA
chr22:31737436	func	intronic,intronic,silent,intronic
chr22:31737436	transcript	NM_014323,NM_032050,NM_032051,NM_032052
chr22:31737436	genomic	.,.,.,.
chr22:31737436	codon	.,.,.,.
chr22:31737436	protein	.,.,.,.
chr22:31737436	worst	silent
chr22:31737436	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31737436	nvar	1
chr22:31737436	var	chr22:31737436:G/A
chr22:31795620	allele_ref	C
chr22:31795620	allele_alt	T
chr22:31795620	seqdb_ref	C
chr22:31795620	snp_fw_seq3	CCG/CTG
chr22:31795620	snp_rv_seq3	CGG/CAG
chr22:31795620	func	5-UTR
chr22:31795620	transcript	NM_004147
chr22:31795620	genomic	.
chr22:31795620	codon	.
chr22:31795620	protein	.
chr22:31795620	worst	UTR5
chr22:31795620	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:31795620	nvar	1
chr22:31795620	var	chr22:31795620:C/T
chr22:31796563	allele_ref	C
chr22:31796563	allele_alt	T
chr22:31796563	seqdb_ref	C
chr22:31796563	snp_fw_seq3	GCG/GTG
chr22:31796563	snp_rv_seq3	CGC/CAC
chr22:31796563	func	intronic
chr22:31796563	transcript	NM_004147
chr22:31796563	genomic	.
chr22:31796563	codon	.
chr22:31796563	protein	.
chr22:31796563	worst	intronic
chr22:31796563	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31796563	nvar	1
chr22:31796563	var	chr22:31796563:C/T
chr22:31816217	allele_ref	C
chr22:31816217	allele_alt	T
chr22:31816217	seqdb_ref	C
chr22:31816217	snp_fw_seq3	GCG/GTG
chr22:31816217	snp_rv_seq3	CGC/CAC
chr22:31816217	func	intronic
chr22:31816217	transcript	NM_004147
chr22:31816217	genomic	.
chr22:31816217	codon	.
chr22:31816217	protein	.
chr22:31816217	worst	intronic
chr22:31816217	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31816217	nvar	1
chr22:31816217	var	chr22:31816217:C/T
chr22:31816439	allele_ref	G
chr22:31816439	allele_alt	A
chr22:31816439	seqdb_ref	G
chr22:31816439	snp_fw_seq3	GGC/GAC
chr22:31816439	snp_rv_seq3	GCC/GTC
chr22:31816439	func	intronic
chr22:31816439	transcript	NM_004147
chr22:31816439	genomic	.
chr22:31816439	codon	.
chr22:31816439	protein	.
chr22:31816439	worst	intronic
chr22:31816439	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31816439	nvar	1
chr22:31816439	var	chr22:31816439:G/A
chr22:31836042	allele_ref	C
chr22:31836042	allele_alt	T
chr22:31836042	seqdb_ref	C
chr22:31836042	snp_fw_seq3	ACG/ATG
chr22:31836042	snp_rv_seq3	CGT/CAT
chr22:31836042	func	missense,missense,missense
chr22:31836042	transcript	NM_001164501,NM_001164502,NM_019843
chr22:31836042	genomic	g.2782C>T,g.2260C>T,g.2782C>T
chr22:31836042	codon	c.2782GTG>ATG,c.2260GTG>ATG,c.2782GTG>ATG
chr22:31836042	protein	p.928V>M,p.754V>M,p.928V>M
chr22:31836042	worst	missense
chr22:31836042	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31836042	nvar	1
chr22:31836042	var	chr22:31836042:C/T
chr22:31836799	allele_ref	G
chr22:31836799	allele_alt	A
chr22:31836799	seqdb_ref	G
chr22:31836799	snp_fw_seq3	GGA/GAA
chr22:31836799	snp_rv_seq3	TCC/TTC
chr22:31836799	func	silent,silent,silent
chr22:31836799	transcript	NM_001164501,NM_001164502,NM_019843
chr22:31836799	genomic	.,.,.
chr22:31836799	codon	.,.,.
chr22:31836799	protein	.,.,.
chr22:31836799	worst	silent
chr22:31836799	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31836799	nvar	1
chr22:31836799	var	chr22:31836799:G/A
chr22:31838085	allele_ref	G
chr22:31838085	allele_alt	A
chr22:31838085	seqdb_ref	G
chr22:31838085	snp_fw_seq3	AGC/AAC
chr22:31838085	snp_rv_seq3	GCT/GTT
chr22:31838085	func	silent,silent,silent
chr22:31838085	transcript	NM_001164501,NM_001164502,NM_019843
chr22:31838085	genomic	.,.,.
chr22:31838085	codon	.,.,.
chr22:31838085	protein	.,.,.
chr22:31838085	worst	silent
chr22:31838085	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31838085	nvar	1
chr22:31838085	var	chr22:31838085:G/A
chr22:31840691	allele_ref	A
chr22:31840691	allele_alt	G
chr22:31840691	seqdb_ref	A
chr22:31840691	snp_fw_seq3	AAT/AGT
chr22:31840691	snp_rv_seq3	ATT/ACT
chr22:31840691	func	intronic,intronic,intronic
chr22:31840691	transcript	NM_001164501,NM_001164502,NM_019843
chr22:31840691	genomic	.,.,.
chr22:31840691	codon	.,.,.
chr22:31840691	protein	.,.,.
chr22:31840691	worst	intronic
chr22:31840691	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31840691	nvar	1
chr22:31840691	var	chr22:31840691:A/G
chr22:31851183	allele_ref	T
chr22:31851183	allele_alt	C
chr22:31851183	seqdb_ref	T
chr22:31851183	snp_fw_seq3	CTT/CCT
chr22:31851183	snp_rv_seq3	AAG/AGG
chr22:31851183	func	silent,silent,silent
chr22:31851183	transcript	NM_001164501,NM_001164502,NM_019843
chr22:31851183	genomic	.,.,.
chr22:31851183	codon	.,.,.
chr22:31851183	protein	.,.,.
chr22:31851183	worst	silent
chr22:31851183	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31851183	nvar	1
chr22:31851183	var	chr22:31851183:T/C
chr22:31859859	allele_ref	A
chr22:31859859	allele_alt	G
chr22:31859859	seqdb_ref	A
chr22:31859859	snp_fw_seq3	TAA/TGA
chr22:31859859	snp_rv_seq3	TTA/TCA
chr22:31859859	func	silent,intronic,silent
chr22:31859859	transcript	NM_001164501,NM_001164502,NM_019843
chr22:31859859	genomic	.,.,.
chr22:31859859	codon	.,.,.
chr22:31859859	protein	.,.,.
chr22:31859859	worst	silent
chr22:31859859	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31859859	nvar	1
chr22:31859859	var	chr22:31859859:A/G
chr22:31942898	allele_ref	G
chr22:31942898	allele_alt	A
chr22:31942898	seqdb_ref	G
chr22:31942898	snp_fw_seq3	AGG/AAG
chr22:31942898	snp_rv_seq3	CCT/CTT
chr22:31942898	func	silent,silent
chr22:31942898	transcript	NM_001007467,NM_014775
chr22:31942898	genomic	.,.
chr22:31942898	codon	.,.
chr22:31942898	protein	.,.
chr22:31942898	worst	silent
chr22:31942898	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31942898	nvar	1
chr22:31942898	var	chr22:31942898:G/A
chr22:31942919	allele_ref	C
chr22:31942919	allele_alt	T
chr22:31942919	seqdb_ref	C
chr22:31942919	snp_fw_seq3	ACG/ATG
chr22:31942919	snp_rv_seq3	CGT/CAT
chr22:31942919	func	silent,silent
chr22:31942919	transcript	NM_001007467,NM_014775
chr22:31942919	genomic	.,.
chr22:31942919	codon	.,.
chr22:31942919	protein	.,.
chr22:31942919	worst	silent
chr22:31942919	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31942919	nvar	1
chr22:31942919	var	chr22:31942919:C/T
chr22:31942974	allele_ref	C
chr22:31942974	allele_alt	T
chr22:31942974	seqdb_ref	C
chr22:31942974	snp_fw_seq3	ACA/ATA
chr22:31942974	snp_rv_seq3	TGT/TAT
chr22:31942974	func	intronic,intronic
chr22:31942974	transcript	NM_001007467,NM_014775
chr22:31942974	genomic	.,.
chr22:31942974	codon	.,.
chr22:31942974	protein	.,.
chr22:31942974	worst	intronic
chr22:31942974	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31942974	nvar	1
chr22:31942974	var	chr22:31942974:C/T
chr22:31946287	allele_ref	G
chr22:31946287	allele_alt	A
chr22:31946287	seqdb_ref	G
chr22:31946287	snp_fw_seq3	CGT/CAT
chr22:31946287	snp_rv_seq3	ACG/ATG
chr22:31946287	func	missense,missense
chr22:31946287	transcript	NM_001007467,NM_014775
chr22:31946287	genomic	g.497G>A,g.497G>A
chr22:31946287	codon	c.497CGT>CAT,c.497CGT>CAT
chr22:31946287	protein	p.166R>H,p.166R>H
chr22:31946287	worst	missense
chr22:31946287	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31946287	nvar	1
chr22:31946287	var	chr22:31946287:G/A
chr22:31969182	allele_ref	G
chr22:31969182	allele_alt	A
chr22:31969182	seqdb_ref	G
chr22:31969182	snp_fw_seq3	AGT/AAT
chr22:31969182	snp_rv_seq3	ACT/ATT
chr22:31969182	func	missense,missense
chr22:31969182	transcript	NM_001007467,NM_014775
chr22:31969182	genomic	g.904G>A,g.904G>A
chr22:31969182	codon	c.904GTG>ATG,c.904GTG>ATG
chr22:31969182	protein	p.302V>M,p.302V>M
chr22:31969182	worst	missense
chr22:31969182	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31969182	nvar	1
chr22:31969182	var	chr22:31969182:G/A
chr22:31971258	allele_ref	T
chr22:31971258	allele_alt	C
chr22:31971258	seqdb_ref	T
chr22:31971258	snp_fw_seq3	ATA/ACA
chr22:31971258	snp_rv_seq3	TAT/TGT
chr22:31971258	func	missense,missense
chr22:31971258	transcript	NM_001007467,NM_014775
chr22:31971258	genomic	g.964T>C,g.964T>C
chr22:31971258	codon	c.964TAC>CAC,c.964TAC>CAC
chr22:31971258	protein	p.322Y>H,p.322Y>H
chr22:31971258	worst	missense
chr22:31971258	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31971258	nvar	1
chr22:31971258	var	chr22:31971258:T/C
chr22:31971282	allele_ref	T
chr22:31971282	allele_alt	C
chr22:31971282	seqdb_ref	T
chr22:31971282	snp_fw_seq3	CTG/CCG
chr22:31971282	snp_rv_seq3	CAG/CGG
chr22:31971282	func	missense,missense
chr22:31971282	transcript	NM_001007467,NM_014775
chr22:31971282	genomic	g.988T>C,g.988T>C
chr22:31971282	codon	c.988TGG>CGG,c.988TGG>CGG
chr22:31971282	protein	p.330W>R,p.330W>R
chr22:31971282	worst	missense
chr22:31971282	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31971282	nvar	1
chr22:31971282	var	chr22:31971282:T/C
chr22:31971355	allele_ref	G
chr22:31971355	allele_alt	A
chr22:31971355	seqdb_ref	G
chr22:31971355	snp_fw_seq3	CGC/CAC
chr22:31971355	snp_rv_seq3	GCG/GTG
chr22:31971355	func	missense,missense
chr22:31971355	transcript	NM_001007467,NM_014775
chr22:31971355	genomic	g.1061G>A,g.1061G>A
chr22:31971355	codon	c.1061CGC>CAC,c.1061CGC>CAC
chr22:31971355	protein	p.354R>H,p.354R>H
chr22:31971355	worst	missense
chr22:31971355	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31971355	nvar	1
chr22:31971355	var	chr22:31971355:G/A
chr22:31974468	allele_ref	G
chr22:31974468	allele_alt	A
chr22:31974468	seqdb_ref	G
chr22:31974468	snp_fw_seq3	CGC/CAC
chr22:31974468	snp_rv_seq3	GCG/GTG
chr22:31974468	func	intronic,intronic
chr22:31974468	transcript	NM_001007467,NM_014775
chr22:31974468	genomic	.,.
chr22:31974468	codon	.,.
chr22:31974468	protein	.,.
chr22:31974468	worst	intronic
chr22:31974468	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31974468	nvar	1
chr22:31974468	var	chr22:31974468:G/A
chr22:31976235	allele_ref	A
chr22:31976235	allele_alt	G
chr22:31976235	seqdb_ref	A
chr22:31976235	snp_fw_seq3	CAG/CGG
chr22:31976235	snp_rv_seq3	CTG/CCG
chr22:31976235	func	intronic,intronic
chr22:31976235	transcript	NM_001007467,NM_014775
chr22:31976235	genomic	.,.
chr22:31976235	codon	.,.
chr22:31976235	protein	.,.
chr22:31976235	worst	intronic
chr22:31976235	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31976235	nvar	1
chr22:31976235	var	chr22:31976235:A/G
chr22:31976299	allele_ref	T
chr22:31976299	allele_alt	C
chr22:31976299	seqdb_ref	T
chr22:31976299	snp_fw_seq3	CTC/CCC
chr22:31976299	snp_rv_seq3	GAG/GGG
chr22:31976299	func	silent,intronic
chr22:31976299	transcript	NM_001007467,NM_014775
chr22:31976299	genomic	.,.
chr22:31976299	codon	.,.
chr22:31976299	protein	.,.
chr22:31976299	worst	silent
chr22:31976299	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31976299	nvar	1
chr22:31976299	var	chr22:31976299:T/C
chr22:31976357	allele_ref	G
chr22:31976357	allele_alt	T
chr22:31976357	seqdb_ref	G
chr22:31976357	snp_fw_seq3	GGT/GTT
chr22:31976357	snp_rv_seq3	ACC/AAC
chr22:31976357	func	intronic,intronic
chr22:31976357	transcript	NM_001007467,NM_014775
chr22:31976357	genomic	.,.
chr22:31976357	codon	.,.
chr22:31976357	protein	.,.
chr22:31976357	worst	intronic
chr22:31976357	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31976357	nvar	1
chr22:31976357	var	chr22:31976357:G/T
chr22:31998572	allele_ref	C
chr22:31998572	allele_alt	G
chr22:31998572	seqdb_ref	C
chr22:31998572	snp_fw_seq3	TCT/TGT
chr22:31998572	snp_rv_seq3	AGA/ACA
chr22:31998572	func	intronic,intronic
chr22:31998572	transcript	NM_001007467,NM_014775
chr22:31998572	genomic	.,.
chr22:31998572	codon	.,.
chr22:31998572	protein	.,.
chr22:31998572	worst	intronic
chr22:31998572	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31998572	nvar	1
chr22:31998572	var	chr22:31998572:C/G
chr22:31998612	allele_ref	G
chr22:31998612	allele_alt	A
chr22:31998612	seqdb_ref	G
chr22:31998612	snp_fw_seq3	CGA/CAA
chr22:31998612	snp_rv_seq3	TCG/TTG
chr22:31998612	func	missense,missense
chr22:31998612	transcript	NM_001007467,NM_014775
chr22:31998612	genomic	g.1646G>A,g.1553G>A
chr22:31998612	codon	c.1646CGA>CAA,c.1553CGA>CAA
chr22:31998612	protein	p.549R>Q,p.518R>Q
chr22:31998612	worst	missense
chr22:31998612	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31998612	nvar	1
chr22:31998612	var	chr22:31998612:G/A
chr22:31998808	allele_ref	A
chr22:31998808	allele_alt	C
chr22:31998808	seqdb_ref	A
chr22:31998808	snp_fw_seq3	CAC/CCC
chr22:31998808	snp_rv_seq3	GTG/GGG
chr22:31998808	func	intronic,intronic
chr22:31998808	transcript	NM_001007467,NM_014775
chr22:31998808	genomic	.,.
chr22:31998808	codon	.,.
chr22:31998808	protein	.,.
chr22:31998808	worst	intronic
chr22:31998808	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31998808	nvar	1
chr22:31998808	var	chr22:31998808:A/C
chr22:31999846	allele_ref	G
chr22:31999846	allele_alt	C
chr22:31999846	seqdb_ref	G
chr22:31999846	snp_fw_seq3	TGG/TCG
chr22:31999846	snp_rv_seq3	CCA/CGA
chr22:31999846	func	intronic,intronic
chr22:31999846	transcript	NM_001007467,NM_014775
chr22:31999846	genomic	.,.
chr22:31999846	codon	.,.
chr22:31999846	protein	.,.
chr22:31999846	worst	intronic
chr22:31999846	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:31999846	nvar	1
chr22:31999846	var	chr22:31999846:G/C
chr22:32000366	allele_ref	G
chr22:32000366	allele_alt	C
chr22:32000366	seqdb_ref	G
chr22:32000366	snp_fw_seq3	TGC/TCC
chr22:32000366	snp_rv_seq3	GCA/GGA
chr22:32000366	func	silent,silent
chr22:32000366	transcript	NM_001007467,NM_014775
chr22:32000366	genomic	.,.
chr22:32000366	codon	.,.
chr22:32000366	protein	.,.
chr22:32000366	worst	silent
chr22:32000366	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32000366	nvar	1
chr22:32000366	var	chr22:32000366:G/C
chr22:32002294	allele_ref	T
chr22:32002294	allele_alt	C,G
chr22:32002294	seqdb_ref	T
chr22:32002294	func	intronic,intronic
chr22:32002294	transcript	NM_001007467,NM_014775
chr22:32002294	genomic	.,.
chr22:32002294	codon	.,.
chr22:32002294	protein	.,.
chr22:32002294	worst	intronic
chr22:32002294	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32002294	nvar	1
chr22:32002294	var	chr22:32002294:T/C,G
chr22:32007153	allele_ref	G
chr22:32007153	allele_alt	A
chr22:32007153	seqdb_ref	G
chr22:32007153	snp_fw_seq3	CGC/CAC
chr22:32007153	snp_rv_seq3	GCG/GTG
chr22:32007153	func	missense,missense
chr22:32007153	transcript	NM_001007467,NM_014775
chr22:32007153	genomic	g.2279G>A,g.2186G>A
chr22:32007153	codon	c.2279CGC>CAC,c.2186CGC>CAC
chr22:32007153	protein	p.760R>H,p.729R>H
chr22:32007153	worst	missense
chr22:32007153	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32007153	nvar	1
chr22:32007153	var	chr22:32007153:G/A
chr22:32007264	allele_ref	A
chr22:32007264	allele_alt	T
chr22:32007264	seqdb_ref	A
chr22:32007264	snp_fw_seq3	CAC/CTC
chr22:32007264	snp_rv_seq3	GTG/GAG
chr22:32007264	func	missense,missense
chr22:32007264	transcript	NM_001007467,NM_014775
chr22:32007264	genomic	g.2390A>T,g.2297A>T
chr22:32007264	codon	c.2390CAC>CTC,c.2297CAC>CTC
chr22:32007264	protein	p.797H>L,p.766H>L
chr22:32007264	worst	missense
chr22:32007264	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32007264	nvar	1
chr22:32007264	var	chr22:32007264:A/T
chr22:32007810	allele_ref	G
chr22:32007810	allele_alt	A
chr22:32007810	seqdb_ref	G
chr22:32007810	snp_fw_seq3	CGC/CAC
chr22:32007810	snp_rv_seq3	GCG/GTG
chr22:32007810	func	missense,missense
chr22:32007810	transcript	NM_001007467,NM_014775
chr22:32007810	genomic	g.2474G>A,g.2381G>A
chr22:32007810	codon	c.2474CGC>CAC,c.2381CGC>CAC
chr22:32007810	protein	p.825R>H,p.794R>H
chr22:32007810	worst	missense
chr22:32007810	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32007810	nvar	1
chr22:32007810	var	chr22:32007810:G/A
chr22:32009184	allele_ref	C
chr22:32009184	allele_alt	A
chr22:32009184	seqdb_ref	C
chr22:32009184	snp_fw_seq3	CCT/CAT
chr22:32009184	snp_rv_seq3	AGG/ATG
chr22:32009184	func	silent,silent
chr22:32009184	transcript	NM_001007467,NM_014775
chr22:32009184	genomic	.,.
chr22:32009184	codon	.,.
chr22:32009184	protein	.,.
chr22:32009184	worst	silent
chr22:32009184	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32009184	nvar	1
chr22:32009184	var	chr22:32009184:C/A
chr22:32009328	allele_ref	C
chr22:32009328	allele_alt	T
chr22:32009328	seqdb_ref	C
chr22:32009328	snp_fw_seq3	GCC/GTC
chr22:32009328	snp_rv_seq3	GGC/GAC
chr22:32009328	func	intronic,intronic
chr22:32009328	transcript	NM_001007467,NM_014775
chr22:32009328	genomic	.,.
chr22:32009328	codon	.,.
chr22:32009328	protein	.,.
chr22:32009328	worst	intronic
chr22:32009328	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32009328	nvar	1
chr22:32009328	var	chr22:32009328:C/T
chr22:32010772	allele_ref	C
chr22:32010772	allele_alt	T
chr22:32010772	seqdb_ref	C
chr22:32010772	snp_fw_seq3	CCA/CTA
chr22:32010772	snp_rv_seq3	TGG/TAG
chr22:32010772	func	intronic,splice,intronic,splice
chr22:32010772	annot_details	DIST=-3,NMD=0,OFPTV=1,EXIN=28,ISEQ=TTCCAG,ESEQ=CAACAC,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS28+-3C>T,DIST=-3,NMD=0,OFPTV=1,EXIN=27,ISEQ=TTCCAG,ESEQ=CAACAC,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS27+-3C>T
chr22:32010772	transcript	NM_001007467,NM_001007467,NM_014775,NM_014775
chr22:32010772	genomic	.,.,.,.
chr22:32010772	codon	.,.,.,.
chr22:32010772	protein	.,.,.,.
chr22:32010772	worst	splice
chr22:32010772	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32010772	nvar	1
chr22:32010772	var	chr22:32010772:C/T
chr22:32011225	allele_ref	T
chr22:32011225	allele_alt	C
chr22:32011225	seqdb_ref	T
chr22:32011225	snp_fw_seq3	CTT/CCT
chr22:32011225	snp_rv_seq3	AAG/AGG
chr22:32011225	func	missense,missense
chr22:32011225	transcript	NM_001007467,NM_014775
chr22:32011225	genomic	g.3260T>C,g.3167T>C
chr22:32011225	codon	c.3260CTT>CCT,c.3167CTT>CCT
chr22:32011225	protein	p.1087L>P,p.1056L>P
chr22:32011225	worst	missense
chr22:32011225	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32011225	nvar	1
chr22:32011225	var	chr22:32011225:T/C
chr22:32014161	allele_ref	G
chr22:32014161	allele_alt	A
chr22:32014161	seqdb_ref	G
chr22:32014161	snp_fw_seq3	CGG/CAG
chr22:32014161	snp_rv_seq3	CCG/CTG
chr22:32014161	func	silent,silent
chr22:32014161	transcript	NM_001007467,NM_014775
chr22:32014161	genomic	.,.
chr22:32014161	codon	.,.
chr22:32014161	protein	.,.
chr22:32014161	worst	silent
chr22:32014161	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32014161	nvar	1
chr22:32014161	var	chr22:32014161:G/A
chr22:32014250	allele_ref	G
chr22:32014250	allele_alt	A
chr22:32014250	seqdb_ref	G
chr22:32014250	snp_fw_seq3	CGC/CAC
chr22:32014250	snp_rv_seq3	GCG/GTG
chr22:32014250	func	intronic,intronic
chr22:32014250	transcript	NM_001007467,NM_014775
chr22:32014250	genomic	.,.
chr22:32014250	codon	.,.
chr22:32014250	protein	.,.
chr22:32014250	worst	intronic
chr22:32014250	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32014250	nvar	1
chr22:32014250	var	chr22:32014250:G/A
chr22:32014255	allele_ref	G
chr22:32014255	allele_alt	A
chr22:32014255	seqdb_ref	G
chr22:32014255	snp_fw_seq3	CGG/CAG
chr22:32014255	snp_rv_seq3	CCG/CTG
chr22:32014255	func	intronic,intronic
chr22:32014255	transcript	NM_001007467,NM_014775
chr22:32014255	genomic	.,.
chr22:32014255	codon	.,.
chr22:32014255	protein	.,.
chr22:32014255	worst	intronic
chr22:32014255	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32014255	nvar	1
chr22:32014255	var	chr22:32014255:G/A
chr22:32014296	allele_ref	C
chr22:32014296	allele_alt	T
chr22:32014296	seqdb_ref	C
chr22:32014296	snp_fw_seq3	CCC/CTC
chr22:32014296	snp_rv_seq3	GGG/GAG
chr22:32014296	func	intronic,splice,intronic,splice
chr22:32014296	annot_details	DIST=-4,NMD=0,OFPTV=1,EXIN=33,ISEQ=CCCCAG,ESEQ=GTGGAA,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS33+-4C>T,DIST=-4,NMD=0,OFPTV=1,EXIN=32,ISEQ=CCCCAG,ESEQ=GTGGAA,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS32+-4C>T
chr22:32014296	transcript	NM_001007467,NM_001007467,NM_014775,NM_014775
chr22:32014296	genomic	.,.,.,.
chr22:32014296	codon	.,.,.,.
chr22:32014296	protein	.,.,.,.
chr22:32014296	worst	splice
chr22:32014296	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32014296	nvar	1
chr22:32014296	var	chr22:32014296:C/T
chr22:32014365	allele_ref	C
chr22:32014365	allele_alt	T
chr22:32014365	seqdb_ref	C
chr22:32014365	snp_fw_seq3	GCG/GTG
chr22:32014365	snp_rv_seq3	CGC/CAC
chr22:32014365	func	silent,silent
chr22:32014365	transcript	NM_001007467,NM_014775
chr22:32014365	genomic	.,.
chr22:32014365	codon	.,.
chr22:32014365	protein	.,.
chr22:32014365	worst	silent
chr22:32014365	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32014365	nvar	1
chr22:32014365	var	chr22:32014365:C/T
chr22:32015742	allele_ref	G
chr22:32015742	allele_alt	A
chr22:32015742	seqdb_ref	G
chr22:32015742	snp_fw_seq3	CGC/CAC
chr22:32015742	snp_rv_seq3	GCG/GTG
chr22:32015742	func	silent
chr22:32015742	transcript	NM_014338
chr22:32015742	genomic	.
chr22:32015742	codon	.
chr22:32015742	protein	.
chr22:32015742	worst	silent
chr22:32015742	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32015742	nvar	1
chr22:32015742	var	chr22:32015742:G/A
chr22:32015766	allele_ref	G
chr22:32015766	allele_alt	A
chr22:32015766	seqdb_ref	G
chr22:32015766	snp_fw_seq3	CGA/CAA
chr22:32015766	snp_rv_seq3	TCG/TTG
chr22:32015766	func	silent
chr22:32015766	transcript	NM_014338
chr22:32015766	genomic	.
chr22:32015766	codon	.
chr22:32015766	protein	.
chr22:32015766	worst	silent
chr22:32015766	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32015766	nvar	1
chr22:32015766	var	chr22:32015766:G/A
chr22:32016621	allele_ref	G
chr22:32016621	allele_alt	A
chr22:32016621	seqdb_ref	G
chr22:32016621	snp_fw_seq3	CGT/CAT
chr22:32016621	snp_rv_seq3	ACG/ATG
chr22:32016621	func	missense
chr22:32016621	transcript	NM_014338
chr22:32016621	genomic	g.821G>A
chr22:32016621	codon	c.821ACG>ATG
chr22:32016621	protein	p.274T>M
chr22:32016621	worst	missense
chr22:32016621	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32016621	nvar	1
chr22:32016621	var	chr22:32016621:G/A
chr22:32016726	allele_ref	C
chr22:32016726	allele_alt	T
chr22:32016726	seqdb_ref	C
chr22:32016726	snp_fw_seq3	TCC/TTC
chr22:32016726	snp_rv_seq3	GGA/GAA
chr22:32016726	func	intronic
chr22:32016726	transcript	NM_014338
chr22:32016726	genomic	.
chr22:32016726	codon	.
chr22:32016726	protein	.
chr22:32016726	worst	intronic
chr22:32016726	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32016726	nvar	1
chr22:32016726	var	chr22:32016726:C/T
chr22:32017272	allele_ref	A
chr22:32017272	allele_alt	G
chr22:32017272	seqdb_ref	A
chr22:32017272	snp_fw_seq3	CAG/CGG
chr22:32017272	snp_rv_seq3	CTG/CCG
chr22:32017272	func	intronic
chr22:32017272	transcript	NM_014338
chr22:32017272	genomic	.
chr22:32017272	codon	.
chr22:32017272	protein	.
chr22:32017272	worst	intronic
chr22:32017272	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32017272	nvar	1
chr22:32017272	var	chr22:32017272:A/G
chr22:32017296	allele_ref	A
chr22:32017296	allele_alt	G
chr22:32017296	seqdb_ref	A
chr22:32017296	snp_fw_seq3	TAG/TGG
chr22:32017296	snp_rv_seq3	CTA/CCA
chr22:32017296	func	intronic
chr22:32017296	transcript	NM_014338
chr22:32017296	genomic	.
chr22:32017296	codon	.
chr22:32017296	protein	.
chr22:32017296	worst	intronic
chr22:32017296	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32017296	nvar	1
chr22:32017296	var	chr22:32017296:A/G
chr22:32017301	allele_ref	C
chr22:32017301	allele_alt	G
chr22:32017301	seqdb_ref	C
chr22:32017301	snp_fw_seq3	CCG/CGG
chr22:32017301	snp_rv_seq3	CGG/CCG
chr22:32017301	func	intronic
chr22:32017301	transcript	NM_014338
chr22:32017301	genomic	.
chr22:32017301	codon	.
chr22:32017301	protein	.
chr22:32017301	worst	intronic
chr22:32017301	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32017301	nvar	1
chr22:32017301	var	chr22:32017301:C/G
chr22:32017587	allele_ref	G
chr22:32017587	allele_alt	A
chr22:32017587	seqdb_ref	G
chr22:32017587	snp_fw_seq3	AGG/AAG
chr22:32017587	snp_rv_seq3	CCT/CTT
chr22:32017587	func	intronic
chr22:32017587	transcript	NM_014338
chr22:32017587	genomic	.
chr22:32017587	codon	.
chr22:32017587	protein	.
chr22:32017587	worst	intronic
chr22:32017587	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32017587	nvar	1
chr22:32017587	var	chr22:32017587:G/A
chr22:32019806	allele_ref	C
chr22:32019806	allele_alt	T
chr22:32019806	seqdb_ref	C
chr22:32019806	snp_fw_seq3	CCG/CTG
chr22:32019806	snp_rv_seq3	CGG/CAG
chr22:32019806	func	missense
chr22:32019806	transcript	NM_014338
chr22:32019806	genomic	g.83C>T
chr22:32019806	codon	c.83CGG>CAG
chr22:32019806	protein	p.28R>Q
chr22:32019806	worst	missense
chr22:32019806	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32019806	nvar	1
chr22:32019806	var	chr22:32019806:C/T
chr22:32021729	allele_ref	C
chr22:32021729	allele_alt	A
chr22:32021729	seqdb_ref	C
chr22:32021729	snp_fw_seq3	GCG/GAG
chr22:32021729	snp_rv_seq3	CGC/CTC
chr22:32021729	func	intronic
chr22:32021729	transcript	NM_014338
chr22:32021729	genomic	.
chr22:32021729	codon	.
chr22:32021729	protein	.
chr22:32021729	worst	intronic
chr22:32021729	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32021729	nvar	1
chr22:32021729	var	chr22:32021729:C/A
chr22:32097775	allele_ref	T
chr22:32097775	allele_alt	C
chr22:32097775	seqdb_ref	T
chr22:32097775	snp_fw_seq3	ATG/ACG
chr22:32097775	snp_rv_seq3	CAT/CGT
chr22:32097775	func	intronic
chr22:32097775	transcript	NM_173566
chr22:32097775	genomic	.
chr22:32097775	codon	.
chr22:32097775	protein	.
chr22:32097775	worst	intronic
chr22:32097775	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32097775	nvar	1
chr22:32097775	var	chr22:32097775:T/C
chr22:32099626	allele_ref	G
chr22:32099626	allele_alt	A
chr22:32099626	seqdb_ref	G
chr22:32099626	snp_fw_seq3	AGG/AAG
chr22:32099626	snp_rv_seq3	CCT/CTT
chr22:32099626	func	silent
chr22:32099626	transcript	NM_173566
chr22:32099626	genomic	.
chr22:32099626	codon	.
chr22:32099626	protein	.
chr22:32099626	worst	silent
chr22:32099626	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32099626	nvar	1
chr22:32099626	var	chr22:32099626:G/A
chr22:32154482	allele_ref	G
chr22:32154482	allele_alt	C
chr22:32154482	seqdb_ref	g
chr22:32154482	snp_fw_seq3	agt/aCt
chr22:32154482	snp_rv_seq3	act/aGt
chr22:32154482	func	intronic,intronic,intronic,intronic,intronic
chr22:32154482	transcript	NM_001007188,NM_001136029,NM_001242896,NM_001242897,NM_014662
chr22:32154482	genomic	.,.,.,.,.
chr22:32154482	codon	.,.,.,.,.
chr22:32154482	protein	.,.,.,.,.
chr22:32154482	worst	intronic
chr22:32154482	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32154482	nvar	1
chr22:32154482	var	chr22:32154482:G/C
chr22:32164790	allele_ref	C
chr22:32164790	allele_alt	T
chr22:32164790	seqdb_ref	c
chr22:32164790	snp_fw_seq3	cct/cTt
chr22:32164790	snp_rv_seq3	agg/aAg
chr22:32164790	func	intronic,intronic,intronic,intronic,intronic
chr22:32164790	transcript	NM_001007188,NM_001136029,NM_001242896,NM_001242897,NM_014662
chr22:32164790	genomic	.,.,.,.,.
chr22:32164790	codon	.,.,.,.,.
chr22:32164790	protein	.,.,.,.,.
chr22:32164790	worst	intronic
chr22:32164790	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32164790	nvar	1
chr22:32164790	var	chr22:32164790:C/T
chr22:32174198	allele_ref	A
chr22:32174198	allele_alt	G
chr22:32174198	seqdb_ref	A
chr22:32174198	snp_fw_seq3	TAT/TGT
chr22:32174198	snp_rv_seq3	ATA/ACA
chr22:32174198	func	intronic,intronic,intronic,intronic,intronic
chr22:32174198	transcript	NM_001007188,NM_001136029,NM_001242896,NM_001242897,NM_014662
chr22:32174198	genomic	.,.,.,.,.
chr22:32174198	codon	.,.,.,.,.
chr22:32174198	protein	.,.,.,.,.
chr22:32174198	worst	intronic
chr22:32174198	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32174198	nvar	1
chr22:32174198	var	chr22:32174198:A/G
chr22:32179850	allele_ref	G
chr22:32179850	allele_alt	C
chr22:32179850	seqdb_ref	g
chr22:32179850	snp_fw_seq3	tgt/tCt
chr22:32179850	snp_rv_seq3	aca/aGa
chr22:32179850	func	intronic,intronic,intronic,intronic,intronic
chr22:32179850	transcript	NM_001007188,NM_001136029,NM_001242896,NM_001242897,NM_014662
chr22:32179850	genomic	.,.,.,.,.
chr22:32179850	codon	.,.,.,.,.
chr22:32179850	protein	.,.,.,.,.
chr22:32179850	worst	intronic
chr22:32179850	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32179850	nvar	1
chr22:32179850	var	chr22:32179850:G/C
chr22:32193715	allele_ref	G
chr22:32193715	allele_alt	A
chr22:32193715	seqdb_ref	G
chr22:32193715	snp_fw_seq3	TGC/TAC
chr22:32193715	snp_rv_seq3	GCA/GTA
chr22:32193715	func	intronic,intronic,intronic,intronic,intronic
chr22:32193715	transcript	NM_001007188,NM_001136029,NM_001242896,NM_001242897,NM_014662
chr22:32193715	genomic	.,.,.,.,.
chr22:32193715	codon	.,.,.,.,.
chr22:32193715	protein	.,.,.,.,.
chr22:32193715	worst	intronic
chr22:32193715	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32193715	nvar	1
chr22:32193715	var	chr22:32193715:G/A
chr22:32193717	allele_ref	G
chr22:32193717	allele_alt	A
chr22:32193717	seqdb_ref	G
chr22:32193717	snp_fw_seq3	CGG/CAG
chr22:32193717	snp_rv_seq3	CCG/CTG
chr22:32193717	func	intronic,intronic,intronic,intronic,intronic
chr22:32193717	transcript	NM_001007188,NM_001136029,NM_001242896,NM_001242897,NM_014662
chr22:32193717	genomic	.,.,.,.,.
chr22:32193717	codon	.,.,.,.,.
chr22:32193717	protein	.,.,.,.,.
chr22:32193717	worst	intronic
chr22:32193717	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32193717	nvar	1
chr22:32193717	var	chr22:32193717:G/A
chr22:32194531	allele_ref	T
chr22:32194531	allele_alt	C
chr22:32194531	seqdb_ref	T
chr22:32194531	snp_fw_seq3	ATG/ACG
chr22:32194531	snp_rv_seq3	CAT/CGT
chr22:32194531	func	intronic,intronic,intronic,intronic,intronic
chr22:32194531	transcript	NM_001007188,NM_001136029,NM_001242896,NM_001242897,NM_014662
chr22:32194531	genomic	.,.,.,.,.
chr22:32194531	codon	.,.,.,.,.
chr22:32194531	protein	.,.,.,.,.
chr22:32194531	worst	intronic
chr22:32194531	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32194531	nvar	1
chr22:32194531	var	chr22:32194531:T/C
chr22:32194581	allele_ref	A
chr22:32194581	allele_alt	G
chr22:32194581	seqdb_ref	A
chr22:32194581	snp_fw_seq3	AAG/AGG
chr22:32194581	snp_rv_seq3	CTT/CCT
chr22:32194581	func	silent,silent,silent,silent,silent
chr22:32194581	transcript	NM_001007188,NM_001136029,NM_001242896,NM_001242897,NM_014662
chr22:32194581	genomic	.,.,.,.,.
chr22:32194581	codon	.,.,.,.,.
chr22:32194581	protein	.,.,.,.,.
chr22:32194581	worst	silent
chr22:32194581	class	silent,NON=0,SL=0,MIS=0,SYN=5,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32194581	nvar	1
chr22:32194581	var	chr22:32194581:A/G
chr22:32198862	allele_ref	C
chr22:32198862	allele_alt	T
chr22:32198862	seqdb_ref	C
chr22:32198862	snp_fw_seq3	TCC/TTC
chr22:32198862	snp_rv_seq3	GGA/GAA
chr22:32198862	func	intronic,intronic,intronic,intronic,intronic
chr22:32198862	transcript	NM_001007188,NM_001136029,NM_001242896,NM_001242897,NM_014662
chr22:32198862	genomic	.,.,.,.,.
chr22:32198862	codon	.,.,.,.,.
chr22:32198862	protein	.,.,.,.,.
chr22:32198862	worst	intronic
chr22:32198862	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32198862	nvar	1
chr22:32198862	var	chr22:32198862:C/T
chr22:32200161	allele_ref	T
chr22:32200161	allele_alt	C
chr22:32200161	seqdb_ref	T
chr22:32200161	snp_fw_seq3	ATT/ACT
chr22:32200161	snp_rv_seq3	AAT/AGT
chr22:32200161	func	silent,silent,silent,silent,silent
chr22:32200161	transcript	NM_001007188,NM_001136029,NM_001242896,NM_001242897,NM_014662
chr22:32200161	genomic	.,.,.,.,.
chr22:32200161	codon	.,.,.,.,.
chr22:32200161	protein	.,.,.,.,.
chr22:32200161	worst	silent
chr22:32200161	class	silent,NON=0,SL=0,MIS=0,SYN=5,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32200161	nvar	1
chr22:32200161	var	chr22:32200161:T/C
chr22:32205632	allele_ref	A
chr22:32205632	allele_alt	C
chr22:32205632	seqdb_ref	A
chr22:32205632	snp_fw_seq3	CAT/CCT
chr22:32205632	snp_rv_seq3	ATG/AGG
chr22:32205632	func	silent,splice,silent,splice,silent,splice,silent,splice,silent,splice
chr22:32205632	annot_details	DIST=-1,NMD=0,OFPTV=0,EXIN=19,ISEQ=GTGAGT,ESEQ=ATACAT,SPLICE_TYPE=donor,ALT=C,HGVS=c.IVS19+-1A>C,DIST=-1,NMD=0,OFPTV=1,EXIN=18,ISEQ=GTGAGT,ESEQ=ATACAT,SPLICE_TYPE=donor,ALT=C,HGVS=c.IVS18+-1A>C,DIST=-1,NMD=0,OFPTV=0,EXIN=19,ISEQ=GTGAGT,ESEQ=ATACAT,SPLICE_TYPE=donor,ALT=C,HGVS=c.IVS19+-1A>C,DIST=-1,NMD=0,OFPTV=0,EXIN=19,ISEQ=GTGAGT,ESEQ=ATACAT,SPLICE_TYPE=donor,ALT=C,HGVS=c.IVS19+-1A>C,DIST=-1,NMD=0,OFPTV=0,EXIN=19,ISEQ=GTGAGT,ESEQ=ATACAT,SPLICE_TYPE=donor,ALT=C,HGVS=c.IVS19+-1A>C
chr22:32205632	transcript	NM_001007188,NM_001007188,NM_001136029,NM_001136029,NM_001242896,NM_001242896,NM_001242897,NM_001242897,NM_014662,NM_014662
chr22:32205632	genomic	.,.,.,.,.,.,.,.,.,.
chr22:32205632	codon	.,.,.,.,.,.,.,.,.,.
chr22:32205632	protein	.,.,.,.,.,.,.,.,.,.
chr22:32205632	worst	splice
chr22:32205632	class	mixed,NON=0,SL=0,MIS=0,SYN=5,ESPL=0,CSPL=0,SPL=5,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32205632	nvar	1
chr22:32205632	var	chr22:32205632:A/C
chr22:32211004	allele_ref	G
chr22:32211004	allele_alt	C
chr22:32211004	seqdb_ref	G
chr22:32211004	snp_fw_seq3	AGT/ACT
chr22:32211004	snp_rv_seq3	ACT/AGT
chr22:32211004	func	missense,missense,missense,missense,missense
chr22:32211004	transcript	NM_001007188,NM_001136029,NM_001242896,NM_001242897,NM_014662
chr22:32211004	genomic	g.1472G>C,g.1472G>C,g.1472G>C,g.1472G>C,g.1472G>C
chr22:32211004	codon	c.1472AGT>ACT,c.1472AGT>ACT,c.1472AGT>ACT,c.1472AGT>ACT,c.1472AGT>ACT
chr22:32211004	protein	p.491S>T,p.491S>T,p.491S>T,p.491S>T,p.491S>T
chr22:32211004	worst	missense
chr22:32211004	class	missense,NON=0,SL=0,MIS=5,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32211004	nvar	1
chr22:32211004	var	chr22:32211004:G/C
chr22:32217539	allele_ref	C
chr22:32217539	allele_alt	T
chr22:32217539	seqdb_ref	C
chr22:32217539	snp_fw_seq3	GCG/GTG
chr22:32217539	snp_rv_seq3	CGC/CAC
chr22:32217539	func	missense,missense,intronic,missense
chr22:32217539	transcript	NM_001136029,NM_001242896,NM_001242897,NM_014662
chr22:32217539	genomic	g.1922C>T,g.1922C>T,.,g.1922C>T
chr22:32217539	codon	c.1922GCG>GTG,c.1922GCG>GTG,.,c.1922GCG>GTG
chr22:32217539	protein	p.641A>V,p.641A>V,.,p.641A>V
chr22:32217539	worst	missense
chr22:32217539	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32217539	nvar	1
chr22:32217539	var	chr22:32217539:C/T
chr22:32229931	allele_ref	C
chr22:32229931	allele_alt	T
chr22:32229931	seqdb_ref	C
chr22:32229931	snp_fw_seq3	TCT/TTT
chr22:32229931	snp_rv_seq3	AGA/AAA
chr22:32229931	func	missense,missense,missense,missense
chr22:32229931	transcript	NM_001136029,NM_001242896,NM_001242897,NM_014662
chr22:32229931	genomic	g.2135C>T,g.2135C>T,g.1901C>T,g.2135C>T
chr22:32229931	codon	c.2135TCT>TTT,c.2135TCT>TTT,c.1901TCT>TTT,c.2135TCT>TTT
chr22:32229931	protein	p.712S>F,p.712S>F,p.634S>F,p.712S>F
chr22:32229931	worst	missense
chr22:32229931	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32229931	nvar	1
chr22:32229931	var	chr22:32229931:C/T
chr22:32229935	allele_ref	A
chr22:32229935	allele_alt	G
chr22:32229935	seqdb_ref	A
chr22:32229935	snp_fw_seq3	TAG/TGG
chr22:32229935	snp_rv_seq3	CTA/CCA
chr22:32229935	func	silent,silent,silent,silent
chr22:32229935	transcript	NM_001136029,NM_001242896,NM_001242897,NM_014662
chr22:32229935	genomic	.,.,.,.
chr22:32229935	codon	.,.,.,.
chr22:32229935	protein	.,.,.,.
chr22:32229935	worst	silent
chr22:32229935	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32229935	nvar	1
chr22:32229935	var	chr22:32229935:A/G
chr22:32229977	allele_ref	G
chr22:32229977	allele_alt	A
chr22:32229977	seqdb_ref	G
chr22:32229977	snp_fw_seq3	GGC/GAC
chr22:32229977	snp_rv_seq3	GCC/GTC
chr22:32229977	func	intronic,intronic,intronic,intronic
chr22:32229977	transcript	NM_001136029,NM_001242896,NM_001242897,NM_014662
chr22:32229977	genomic	.,.,.,.
chr22:32229977	codon	.,.,.,.
chr22:32229977	protein	.,.,.,.
chr22:32229977	worst	intronic
chr22:32229977	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32229977	nvar	1
chr22:32229977	var	chr22:32229977:G/A
chr22:32232941	allele_ref	C
chr22:32232941	allele_alt	T
chr22:32232941	seqdb_ref	C
chr22:32232941	snp_fw_seq3	CCC/CTC
chr22:32232941	snp_rv_seq3	GGG/GAG
chr22:32232941	func	intronic,intronic,intronic,intronic
chr22:32232941	transcript	NM_001136029,NM_001242896,NM_001242897,NM_014662
chr22:32232941	genomic	.,.,.,.
chr22:32232941	codon	.,.,.,.
chr22:32232941	protein	.,.,.,.
chr22:32232941	worst	intronic
chr22:32232941	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32232941	nvar	1
chr22:32232941	var	chr22:32232941:C/T
chr22:32233028	allele_ref	C
chr22:32233028	allele_alt	G
chr22:32233028	seqdb_ref	C
chr22:32233028	snp_fw_seq3	TCA/TGA
chr22:32233028	snp_rv_seq3	TGA/TCA
chr22:32233028	func	silent,silent,silent,silent
chr22:32233028	transcript	NM_001136029,NM_001242896,NM_001242897,NM_014662
chr22:32233028	genomic	.,.,.,.
chr22:32233028	codon	.,.,.,.
chr22:32233028	protein	.,.,.,.
chr22:32233028	worst	silent
chr22:32233028	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32233028	nvar	1
chr22:32233028	var	chr22:32233028:C/G
chr22:32266546	allele_ref	A
chr22:32266546	allele_alt	T
chr22:32266546	seqdb_ref	A
chr22:32266546	snp_fw_seq3	AAT/ATT
chr22:32266546	snp_rv_seq3	ATT/AAT
chr22:32266546	func	intronic,intronic,intronic,intronic
chr22:32266546	transcript	NM_001136029,NM_001242896,NM_001242897,NM_014662
chr22:32266546	genomic	.,.,.,.
chr22:32266546	codon	.,.,.,.
chr22:32266546	protein	.,.,.,.
chr22:32266546	worst	intronic
chr22:32266546	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32266546	nvar	1
chr22:32266546	var	chr22:32266546:A/T
chr22:32266603	allele_ref	A
chr22:32266603	allele_alt	G
chr22:32266603	seqdb_ref	A
chr22:32266603	snp_fw_seq3	TAT/TGT
chr22:32266603	snp_rv_seq3	ATA/ACA
chr22:32266603	func	missense,missense,missense,missense
chr22:32266603	transcript	NM_001136029,NM_001242896,NM_001242897,NM_014662
chr22:32266603	genomic	g.3331A>G,g.3358A>G,g.3058A>G,g.3265A>G
chr22:32266603	codon	c.3331ATG>GTG,c.3358ATG>GTG,c.3058ATG>GTG,c.3265ATG>GTG
chr22:32266603	protein	p.1111M>V,p.1120M>V,p.1020M>V,p.1089M>V
chr22:32266603	worst	missense
chr22:32266603	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32266603	nvar	1
chr22:32266603	var	chr22:32266603:A/G
chr22:32270409	allele_ref	G
chr22:32270409	allele_alt	A
chr22:32270409	seqdb_ref	G
chr22:32270409	snp_fw_seq3	GGC/GAC
chr22:32270409	snp_rv_seq3	GCC/GTC
chr22:32270409	func	intronic,intronic,intronic,intronic
chr22:32270409	transcript	NM_001136029,NM_001242896,NM_001242897,NM_014662
chr22:32270409	genomic	.,.,.,.
chr22:32270409	codon	.,.,.,.
chr22:32270409	protein	.,.,.,.
chr22:32270409	worst	intronic
chr22:32270409	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32270409	nvar	1
chr22:32270409	var	chr22:32270409:G/A
chr22:32289784	allele_ref	T
chr22:32289784	allele_alt	A
chr22:32289784	seqdb_ref	T
chr22:32289784	snp_fw_seq3	GTG/GAG
chr22:32289784	snp_rv_seq3	CAC/CTC
chr22:32289784	func	intronic,intronic,intronic,intronic
chr22:32289784	transcript	NM_001136029,NM_001242896,NM_001242897,NM_014662
chr22:32289784	genomic	.,.,.,.
chr22:32289784	codon	.,.,.,.
chr22:32289784	protein	.,.,.,.
chr22:32289784	worst	intronic
chr22:32289784	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32289784	nvar	1
chr22:32289784	var	chr22:32289784:T/A
chr22:32297691	allele_ref	G
chr22:32297691	allele_alt	A
chr22:32297691	seqdb_ref	G
chr22:32297691	snp_fw_seq3	TGA/TAA
chr22:32297691	snp_rv_seq3	TCA/TTA
chr22:32297691	func	intronic,intronic,intronic,intronic
chr22:32297691	transcript	NM_001136029,NM_001242896,NM_001242897,NM_014662
chr22:32297691	genomic	.,.,.,.
chr22:32297691	codon	.,.,.,.
chr22:32297691	protein	.,.,.,.
chr22:32297691	worst	intronic
chr22:32297691	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32297691	nvar	1
chr22:32297691	var	chr22:32297691:G/A
chr22:32334021	allele_ref	T
chr22:32334021	allele_alt	A
chr22:32334021	seqdb_ref	T
chr22:32334021	snp_fw_seq3	ATG/AAG
chr22:32334021	snp_rv_seq3	CAT/CTT
chr22:32334021	func	missense
chr22:32334021	transcript	NM_015372
chr22:32334021	genomic	g.32T>A
chr22:32334021	codon	c.32CAT>CTT
chr22:32334021	protein	p.11H>L
chr22:32334021	worst	missense
chr22:32334021	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32334021	nvar	1
chr22:32334021	var	chr22:32334021:T/A
chr22:32334058	allele_ref	T
chr22:32334058	allele_alt	C
chr22:32334058	seqdb_ref	T
chr22:32334058	snp_fw_seq3	TTG/TCG
chr22:32334058	snp_rv_seq3	CAA/CGA
chr22:32334058	func	5-UTR
chr22:32334058	transcript	NM_015372
chr22:32334058	genomic	.
chr22:32334058	codon	.
chr22:32334058	protein	.
chr22:32334058	worst	UTR5
chr22:32334058	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:32334058	nvar	1
chr22:32334058	var	chr22:32334058:T/C
chr22:32352791	allele_ref	G
chr22:32352791	allele_alt	A
chr22:32352791	seqdb_ref	G
chr22:32352791	snp_fw_seq3	GGT/GAT
chr22:32352791	snp_rv_seq3	ACC/ATC
chr22:32352791	func	3-UTR
chr22:32352791	transcript	NM_003405
chr22:32352791	genomic	.
chr22:32352791	codon	.
chr22:32352791	protein	.
chr22:32352791	worst	UTR3
chr22:32352791	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:32352791	nvar	1
chr22:32352791	var	chr22:32352791:G/A
chr22:32439318	allele_ref	T
chr22:32439318	allele_alt	C
chr22:32439318	seqdb_ref	T
chr22:32439318	snp_fw_seq3	GTT/GCT
chr22:32439318	snp_rv_seq3	AAC/AGC
chr22:32439318	func	missense
chr22:32439318	transcript	NM_000343
chr22:32439318	genomic	g.50T>C
chr22:32439318	codon	c.50GTT>GCT
chr22:32439318	protein	p.17V>A
chr22:32439318	worst	missense
chr22:32439318	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32439318	nvar	1
chr22:32439318	var	chr22:32439318:T/C
chr22:32445893	allele_ref	T
chr22:32445893	allele_alt	C
chr22:32445893	seqdb_ref	T
chr22:32445893	snp_fw_seq3	CTA/CCA
chr22:32445893	snp_rv_seq3	TAG/TGG
chr22:32445893	func	intronic
chr22:32445893	transcript	NM_000343
chr22:32445893	genomic	.
chr22:32445893	codon	.
chr22:32445893	protein	.
chr22:32445893	worst	intronic
chr22:32445893	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32445893	nvar	1
chr22:32445893	var	chr22:32445893:T/C
chr22:32477867	allele_ref	G
chr22:32477867	allele_alt	A
chr22:32477867	seqdb_ref	G
chr22:32477867	snp_fw_seq3	CGG/CAG
chr22:32477867	snp_rv_seq3	CCG/CTG
chr22:32477867	func	silent,silent
chr22:32477867	transcript	NM_000343,NM_001256314
chr22:32477867	genomic	.,.
chr22:32477867	codon	.,.
chr22:32477867	protein	.,.
chr22:32477867	worst	silent
chr22:32477867	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32477867	nvar	1
chr22:32477867	var	chr22:32477867:G/A
chr22:32480376	allele_ref	T
chr22:32480376	allele_alt	C
chr22:32480376	seqdb_ref	T
chr22:32480376	snp_fw_seq3	ATG/ACG
chr22:32480376	snp_rv_seq3	CAT/CGT
chr22:32480376	func	intronic,intronic
chr22:32480376	transcript	NM_000343,NM_001256314
chr22:32480376	genomic	.,.
chr22:32480376	codon	.,.
chr22:32480376	protein	.,.
chr22:32480376	worst	intronic
chr22:32480376	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32480376	nvar	1
chr22:32480376	var	chr22:32480376:T/C
chr22:32482277	allele_ref	C
chr22:32482277	allele_alt	T
chr22:32482277	seqdb_ref	C
chr22:32482277	snp_fw_seq3	TCG/TTG
chr22:32482277	snp_rv_seq3	CGA/CAA
chr22:32482277	func	silent,silent
chr22:32482277	transcript	NM_000343,NM_001256314
chr22:32482277	genomic	.,.
chr22:32482277	codon	.,.
chr22:32482277	protein	.,.
chr22:32482277	worst	silent
chr22:32482277	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32482277	nvar	1
chr22:32482277	var	chr22:32482277:C/T
chr22:32482321	allele_ref	T
chr22:32482321	allele_alt	G
chr22:32482321	seqdb_ref	T
chr22:32482321	snp_fw_seq3	ATT/AGT
chr22:32482321	snp_rv_seq3	AAT/ACT
chr22:32482321	func	intronic,intronic
chr22:32482321	transcript	NM_000343,NM_001256314
chr22:32482321	genomic	.,.
chr22:32482321	codon	.,.
chr22:32482321	protein	.,.
chr22:32482321	worst	intronic
chr22:32482321	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32482321	nvar	1
chr22:32482321	var	chr22:32482321:T/G
chr22:32487555	allele_ref	C
chr22:32487555	allele_alt	T
chr22:32487555	seqdb_ref	C
chr22:32487555	snp_fw_seq3	GCT/GTT
chr22:32487555	snp_rv_seq3	AGC/AAC
chr22:32487555	func	intronic,intronic
chr22:32487555	transcript	NM_000343,NM_001256314
chr22:32487555	genomic	.,.
chr22:32487555	codon	.,.
chr22:32487555	protein	.,.
chr22:32487555	worst	intronic
chr22:32487555	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32487555	nvar	1
chr22:32487555	var	chr22:32487555:C/T
chr22:32487575	allele_ref	C
chr22:32487575	allele_alt	T
chr22:32487575	seqdb_ref	C
chr22:32487575	snp_fw_seq3	CCA/CTA
chr22:32487575	snp_rv_seq3	TGG/TAG
chr22:32487575	func	intronic,intronic
chr22:32487575	transcript	NM_000343,NM_001256314
chr22:32487575	genomic	.,.
chr22:32487575	codon	.,.
chr22:32487575	protein	.,.
chr22:32487575	worst	intronic
chr22:32487575	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32487575	nvar	1
chr22:32487575	var	chr22:32487575:C/T
chr22:32500768	allele_ref	T
chr22:32500768	allele_alt	C
chr22:32500768	seqdb_ref	T
chr22:32500768	snp_fw_seq3	CTG/CCG
chr22:32500768	snp_rv_seq3	CAG/CGG
chr22:32500768	func	intronic,splice,intronic,splice
chr22:32500768	annot_details	DIST=-5,NMD=0,OFPTV=0,EXIN=14,ISEQ=CTGCAG,ESEQ=CTCTAC,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS14+-5T>C,DIST=-5,NMD=0,OFPTV=0,EXIN=13,ISEQ=CTGCAG,ESEQ=CTCTAC,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS13+-5T>C
chr22:32500768	transcript	NM_000343,NM_000343,NM_001256314,NM_001256314
chr22:32500768	genomic	.,.,.,.
chr22:32500768	codon	.,.,.,.
chr22:32500768	protein	.,.,.,.
chr22:32500768	worst	splice
chr22:32500768	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32500768	nvar	1
chr22:32500768	var	chr22:32500768:T/C
chr22:32545720	allele_ref	C
chr22:32545720	allele_alt	G
chr22:32545720	seqdb_ref	c
chr22:32545720	snp_fw_seq3	tct/tGt
chr22:32545720	snp_rv_seq3	aga/aCa
chr22:32545720	func	intronic
chr22:32545720	transcript	NM_001010859
chr22:32545720	genomic	.
chr22:32545720	codon	.
chr22:32545720	protein	.
chr22:32545720	worst	intronic
chr22:32545720	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32545720	nvar	1
chr22:32545720	var	chr22:32545720:C/G
chr22:32546289	allele_ref	A
chr22:32546289	allele_alt	G
chr22:32546289	seqdb_ref	A
chr22:32546289	snp_fw_seq3	CAA/CGA
chr22:32546289	snp_rv_seq3	TTG/TCG
chr22:32546289	func	intronic
chr22:32546289	transcript	NM_001010859
chr22:32546289	genomic	.
chr22:32546289	codon	.
chr22:32546289	protein	.
chr22:32546289	worst	intronic
chr22:32546289	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32546289	nvar	1
chr22:32546289	var	chr22:32546289:A/G
chr22:32546946	allele_ref	C
chr22:32546946	allele_alt	T
chr22:32546946	seqdb_ref	c
chr22:32546946	snp_fw_seq3	acg/aTg
chr22:32546946	snp_rv_seq3	cgt/cAt
chr22:32546946	func	intronic
chr22:32546946	transcript	NM_001010859
chr22:32546946	genomic	.
chr22:32546946	codon	.
chr22:32546946	protein	.
chr22:32546946	worst	intronic
chr22:32546946	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32546946	nvar	1
chr22:32546946	var	chr22:32546946:C/T
chr22:32546959	allele_ref	G
chr22:32546959	allele_alt	T
chr22:32546959	seqdb_ref	g
chr22:32546959	snp_fw_seq3	tgt/tTt
chr22:32546959	snp_rv_seq3	aca/aAa
chr22:32546959	func	intronic
chr22:32546959	transcript	NM_001010859
chr22:32546959	genomic	.
chr22:32546959	codon	.
chr22:32546959	protein	.
chr22:32546959	worst	intronic
chr22:32546959	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32546959	nvar	1
chr22:32546959	var	chr22:32546959:G/T
chr22:32547012	allele_ref	G
chr22:32547012	allele_alt	A
chr22:32547012	seqdb_ref	G
chr22:32547012	snp_fw_seq3	AGT/AAT
chr22:32547012	snp_rv_seq3	ACT/ATT
chr22:32547012	func	intronic
chr22:32547012	transcript	NM_001010859
chr22:32547012	genomic	.
chr22:32547012	codon	.
chr22:32547012	protein	.
chr22:32547012	worst	intronic
chr22:32547012	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32547012	nvar	1
chr22:32547012	var	chr22:32547012:G/A
chr22:32547504	allele_ref	G
chr22:32547504	allele_alt	A
chr22:32547504	seqdb_ref	G
chr22:32547504	snp_fw_seq3	CGC/CAC
chr22:32547504	snp_rv_seq3	GCG/GTG
chr22:32547504	func	silent
chr22:32547504	transcript	NM_001010859
chr22:32547504	genomic	.
chr22:32547504	codon	.
chr22:32547504	protein	.
chr22:32547504	worst	silent
chr22:32547504	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32547504	nvar	1
chr22:32547504	var	chr22:32547504:G/A
chr22:32548021	allele_ref	G
chr22:32548021	allele_alt	A
chr22:32548021	seqdb_ref	g
chr22:32548021	snp_fw_seq3	tgt/tAt
chr22:32548021	snp_rv_seq3	aca/aTa
chr22:32548021	func	intronic
chr22:32548021	transcript	NM_001010859
chr22:32548021	genomic	.
chr22:32548021	codon	.
chr22:32548021	protein	.
chr22:32548021	worst	intronic
chr22:32548021	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32548021	nvar	1
chr22:32548021	var	chr22:32548021:G/A
chr22:32548070	allele_ref	C
chr22:32548070	allele_alt	T
chr22:32548070	seqdb_ref	C
chr22:32548070	snp_fw_seq3	CCT/CTT
chr22:32548070	snp_rv_seq3	AGG/AAG
chr22:32548070	func	silent
chr22:32548070	transcript	NM_001010859
chr22:32548070	genomic	.
chr22:32548070	codon	.
chr22:32548070	protein	.
chr22:32548070	worst	silent
chr22:32548070	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32548070	nvar	1
chr22:32548070	var	chr22:32548070:C/T
chr22:32550285	allele_ref	G
chr22:32550285	allele_alt	A
chr22:32550285	seqdb_ref	G
chr22:32550285	snp_fw_seq3	CGC/CAC
chr22:32550285	snp_rv_seq3	GCG/GTG
chr22:32550285	func	missense
chr22:32550285	transcript	NM_001010859
chr22:32550285	genomic	g.253G>A
chr22:32550285	codon	c.253CGC>TGC
chr22:32550285	protein	p.85R>C
chr22:32550285	worst	missense
chr22:32550285	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32550285	nvar	1
chr22:32550285	var	chr22:32550285:G/A
chr22:32554985	allele_ref	A
chr22:32554985	allele_alt	G
chr22:32554985	seqdb_ref	A
chr22:32554985	snp_fw_seq3	CAG/CGG
chr22:32554985	snp_rv_seq3	CTG/CCG
chr22:32554985	func	missense
chr22:32554985	transcript	NM_001010859
chr22:32554985	genomic	g.218A>G
chr22:32554985	codon	c.218CTG>CCG
chr22:32554985	protein	p.73L>P
chr22:32554985	worst	missense
chr22:32554985	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32554985	nvar	1
chr22:32554985	var	chr22:32554985:A/G
chr22:32554996	allele_ref	C
chr22:32554996	allele_alt	T
chr22:32554996	seqdb_ref	C
chr22:32554996	snp_fw_seq3	GCG/GTG
chr22:32554996	snp_rv_seq3	CGC/CAC
chr22:32554996	func	silent
chr22:32554996	transcript	NM_001010859
chr22:32554996	genomic	.
chr22:32554996	codon	.
chr22:32554996	protein	.
chr22:32554996	worst	silent
chr22:32554996	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32554996	nvar	1
chr22:32554996	var	chr22:32554996:C/T
chr22:32586854	allele_ref	C
chr22:32586854	allele_alt	T
chr22:32586854	seqdb_ref	C
chr22:32586854	snp_fw_seq3	ACT/ATT
chr22:32586854	snp_rv_seq3	AGT/AAT
chr22:32586854	func	missense,missense,missense,missense
chr22:32586854	transcript	NM_001098527,NM_001159545,NM_001159546,NM_006605
chr22:32586854	genomic	g.1042C>T,g.772C>T,g.772C>T,g.859C>T
chr22:32586854	codon	c.1042GTT>ATT,c.772GTT>ATT,c.772GTT>ATT,c.859GTT>ATT
chr22:32586854	protein	p.348V>I,p.258V>I,p.258V>I,p.287V>I
chr22:32586854	worst	missense
chr22:32586854	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32586854	nvar	1
chr22:32586854	var	chr22:32586854:C/T
chr22:32586875	allele_ref	G
chr22:32586875	allele_alt	A
chr22:32586875	seqdb_ref	G
chr22:32586875	snp_fw_seq3	CGC/CAC
chr22:32586875	snp_rv_seq3	GCG/GTG
chr22:32586875	func	missense,missense,missense,missense
chr22:32586875	transcript	NM_001098527,NM_001159545,NM_001159546,NM_006605
chr22:32586875	genomic	g.1021G>A,g.751G>A,g.751G>A,g.838G>A
chr22:32586875	codon	c.1021CGC>TGC,c.751CGC>TGC,c.751CGC>TGC,c.838CGC>TGC
chr22:32586875	protein	p.341R>C,p.251R>C,p.251R>C,p.280R>C
chr22:32586875	worst	missense
chr22:32586875	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32586875	nvar	1
chr22:32586875	var	chr22:32586875:G/A
chr22:32587023	allele_ref	C
chr22:32587023	allele_alt	G
chr22:32587023	seqdb_ref	C
chr22:32587023	snp_fw_seq3	CCG/CGG
chr22:32587023	snp_rv_seq3	CGG/CCG
chr22:32587023	func	silent,silent,silent,silent
chr22:32587023	transcript	NM_001098527,NM_001159545,NM_001159546,NM_006605
chr22:32587023	genomic	.,.,.,.
chr22:32587023	codon	.,.,.,.
chr22:32587023	protein	.,.,.,.
chr22:32587023	worst	silent
chr22:32587023	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32587023	nvar	1
chr22:32587023	var	chr22:32587023:C/G
chr22:32587027	allele_ref	G
chr22:32587027	allele_alt	C
chr22:32587027	seqdb_ref	G
chr22:32587027	snp_fw_seq3	GGT/GCT
chr22:32587027	snp_rv_seq3	ACC/AGC
chr22:32587027	func	missense,missense,missense,missense
chr22:32587027	transcript	NM_001098527,NM_001159545,NM_001159546,NM_006605
chr22:32587027	genomic	g.869G>C,g.599G>C,g.599G>C,g.686G>C
chr22:32587027	codon	c.869ACC>AGC,c.599ACC>AGC,c.599ACC>AGC,c.686ACC>AGC
chr22:32587027	protein	p.290T>S,p.200T>S,p.200T>S,p.229T>S
chr22:32587027	worst	missense
chr22:32587027	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32587027	nvar	1
chr22:32587027	var	chr22:32587027:G/C
chr22:32587251	allele_ref	C
chr22:32587251	allele_alt	A
chr22:32587251	seqdb_ref	C
chr22:32587251	snp_fw_seq3	TCT/TAT
chr22:32587251	snp_rv_seq3	AGA/ATA
chr22:32587251	func	missense,missense,missense,missense
chr22:32587251	transcript	NM_001098527,NM_001159545,NM_001159546,NM_006605
chr22:32587251	genomic	g.645C>A,g.375C>A,g.375C>A,g.462C>A
chr22:32587251	codon	c.645CAG>CAT,c.375CAG>CAT,c.375CAG>CAT,c.462CAG>CAT
chr22:32587251	protein	p.215Q>H,p.125Q>H,p.125Q>H,p.154Q>H
chr22:32587251	worst	missense
chr22:32587251	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32587251	nvar	1
chr22:32587251	var	chr22:32587251:C/A
chr22:32587286	allele_ref	C
chr22:32587286	allele_alt	T
chr22:32587286	seqdb_ref	C
chr22:32587286	snp_fw_seq3	TCG/TTG
chr22:32587286	snp_rv_seq3	CGA/CAA
chr22:32587286	func	missense,missense,missense,missense
chr22:32587286	transcript	NM_001098527,NM_001159545,NM_001159546,NM_006605
chr22:32587286	genomic	g.610C>T,g.340C>T,g.340C>T,g.427C>T
chr22:32587286	codon	c.610GAC>AAC,c.340GAC>AAC,c.340GAC>AAC,c.427GAC>AAC
chr22:32587286	protein	p.204D>N,p.114D>N,p.114D>N,p.143D>N
chr22:32587286	worst	missense
chr22:32587286	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32587286	nvar	1
chr22:32587286	var	chr22:32587286:C/T
chr22:32588872	allele_ref	G
chr22:32588872	allele_alt	T
chr22:32588872	seqdb_ref	G
chr22:32588872	snp_fw_seq3	GGT/GTT
chr22:32588872	snp_rv_seq3	ACC/AAC
chr22:32588872	func	intronic,intronic,intronic,intronic
chr22:32588872	transcript	NM_001098527,NM_001159545,NM_001159546,NM_006605
chr22:32588872	genomic	.,.,.,.
chr22:32588872	codon	.,.,.,.
chr22:32588872	protein	.,.,.,.
chr22:32588872	worst	intronic
chr22:32588872	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32588872	nvar	1
chr22:32588872	var	chr22:32588872:G/T
chr22:32589023	allele_ref	C
chr22:32589023	allele_alt	T
chr22:32589023	seqdb_ref	C
chr22:32589023	snp_fw_seq3	GCA/GTA
chr22:32589023	snp_rv_seq3	TGC/TAC
chr22:32589023	func	missense,missense,missense,missense
chr22:32589023	transcript	NM_001098527,NM_001159545,NM_001159546,NM_006605
chr22:32589023	genomic	g.422C>T,g.152C>T,g.152C>T,g.239C>T
chr22:32589023	codon	c.422TGC>TAC,c.152TGC>TAC,c.152TGC>TAC,c.239TGC>TAC
chr22:32589023	protein	p.141C>Y,p.51C>Y,p.51C>Y,p.80C>Y
chr22:32589023	worst	missense
chr22:32589023	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32589023	nvar	1
chr22:32589023	var	chr22:32589023:C/T
chr22:32589034	allele_ref	T
chr22:32589034	allele_alt	C
chr22:32589034	seqdb_ref	T
chr22:32589034	snp_fw_seq3	GTA/GCA
chr22:32589034	snp_rv_seq3	TAC/TGC
chr22:32589034	func	silent,silent,silent,silent
chr22:32589034	transcript	NM_001098527,NM_001159545,NM_001159546,NM_006605
chr22:32589034	genomic	.,.,.,.
chr22:32589034	codon	.,.,.,.
chr22:32589034	protein	.,.,.,.
chr22:32589034	worst	silent
chr22:32589034	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32589034	nvar	1
chr22:32589034	var	chr22:32589034:T/C
chr22:32589090	allele_ref	C
chr22:32589090	allele_alt	T
chr22:32589090	seqdb_ref	C
chr22:32589090	snp_fw_seq3	GCG/GTG
chr22:32589090	snp_rv_seq3	CGC/CAC
chr22:32589090	func	missense,missense,missense,missense
chr22:32589090	transcript	NM_001098527,NM_001159545,NM_001159546,NM_006605
chr22:32589090	genomic	g.355C>T,g.85C>T,g.85C>T,g.172C>T
chr22:32589090	codon	c.355GCC>ACC,c.85GCC>ACC,c.85GCC>ACC,c.172GCC>ACC
chr22:32589090	protein	p.119A>T,p.29A>T,p.29A>T,p.58A>T
chr22:32589090	worst	missense
chr22:32589090	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32589090	nvar	1
chr22:32589090	var	chr22:32589090:C/T
chr22:32614464	allele_ref	T
chr22:32614464	allele_alt	G
chr22:32614464	seqdb_ref	T
chr22:32614464	snp_fw_seq3	TTA/TGA
chr22:32614464	snp_rv_seq3	TAA/TCA
chr22:32614464	func	3-UTR
chr22:32614464	transcript	NM_014227
chr22:32614464	genomic	.
chr22:32614464	codon	.
chr22:32614464	protein	.
chr22:32614464	worst	UTR3
chr22:32614464	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:32614464	nvar	1
chr22:32614464	var	chr22:32614464:T/G
chr22:32614712	allele_ref	T
chr22:32614712	allele_alt	C
chr22:32614712	seqdb_ref	T
chr22:32614712	snp_fw_seq3	ATC/ACC
chr22:32614712	snp_rv_seq3	GAT/GGT
chr22:32614712	func	splice,missense
chr22:32614712	annot_details	DIST=0,NMD=0,OFPTV=1,EXIN=15,ISEQ=GACCTT,ESEQ=CTATTA,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS15+0A>G
chr22:32614712	transcript	NM_014227,NM_014227
chr22:32614712	genomic	.,g.1769T>C
chr22:32614712	codon	.,c.1769GAT>GGT
chr22:32614712	protein	.,p.590D>G
chr22:32614712	worst	missense
chr22:32614712	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32614712	nvar	1
chr22:32614712	var	chr22:32614712:T/C
chr22:32616870	allele_ref	G
chr22:32616870	allele_alt	A
chr22:32616870	seqdb_ref	G
chr22:32616870	snp_fw_seq3	AGT/AAT
chr22:32616870	snp_rv_seq3	ACT/ATT
chr22:32616870	func	intronic
chr22:32616870	transcript	NM_014227
chr22:32616870	genomic	.
chr22:32616870	codon	.
chr22:32616870	protein	.
chr22:32616870	worst	intronic
chr22:32616870	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32616870	nvar	1
chr22:32616870	var	chr22:32616870:G/A
chr22:32621619	allele_ref	C
chr22:32621619	allele_alt	T
chr22:32621619	seqdb_ref	C
chr22:32621619	snp_fw_seq3	ACT/ATT
chr22:32621619	snp_rv_seq3	AGT/AAT
chr22:32621619	func	intronic
chr22:32621619	transcript	NM_014227
chr22:32621619	genomic	.
chr22:32621619	codon	.
chr22:32621619	protein	.
chr22:32621619	worst	intronic
chr22:32621619	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32621619	nvar	1
chr22:32621619	var	chr22:32621619:C/T
chr22:32625210	allele_ref	C
chr22:32625210	allele_alt	T
chr22:32625210	seqdb_ref	C
chr22:32625210	snp_fw_seq3	ACG/ATG
chr22:32625210	snp_rv_seq3	CGT/CAT
chr22:32625210	func	silent
chr22:32625210	transcript	NM_014227
chr22:32625210	genomic	.
chr22:32625210	codon	.
chr22:32625210	protein	.
chr22:32625210	worst	silent
chr22:32625210	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32625210	nvar	1
chr22:32625210	var	chr22:32625210:C/T
chr22:32625297	allele_ref	G
chr22:32625297	allele_alt	A
chr22:32625297	seqdb_ref	G
chr22:32625297	snp_fw_seq3	AGG/AAG
chr22:32625297	snp_rv_seq3	CCT/CTT
chr22:32625297	func	silent
chr22:32625297	transcript	NM_014227
chr22:32625297	genomic	.
chr22:32625297	codon	.
chr22:32625297	protein	.
chr22:32625297	worst	silent
chr22:32625297	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32625297	nvar	1
chr22:32625297	var	chr22:32625297:G/A
chr22:32626908	allele_ref	G
chr22:32626908	allele_alt	A
chr22:32626908	seqdb_ref	G
chr22:32626908	snp_fw_seq3	CGT/CAT
chr22:32626908	snp_rv_seq3	ACG/ATG
chr22:32626908	func	intronic
chr22:32626908	transcript	NM_014227
chr22:32626908	genomic	.
chr22:32626908	codon	.
chr22:32626908	protein	.
chr22:32626908	worst	intronic
chr22:32626908	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32626908	nvar	1
chr22:32626908	var	chr22:32626908:G/A
chr22:32629034	allele_ref	C
chr22:32629034	allele_alt	T
chr22:32629034	seqdb_ref	C
chr22:32629034	snp_fw_seq3	ACG/ATG
chr22:32629034	snp_rv_seq3	CGT/CAT
chr22:32629034	func	intronic
chr22:32629034	transcript	NM_014227
chr22:32629034	genomic	.
chr22:32629034	codon	.
chr22:32629034	protein	.
chr22:32629034	worst	intronic
chr22:32629034	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32629034	nvar	1
chr22:32629034	var	chr22:32629034:C/T
chr22:32630990	allele_ref	C
chr22:32630990	allele_alt	T
chr22:32630990	seqdb_ref	C
chr22:32630990	snp_fw_seq3	ACT/ATT
chr22:32630990	snp_rv_seq3	AGT/AAT
chr22:32630990	func	missense
chr22:32630990	transcript	NM_014227
chr22:32630990	genomic	g.755C>T
chr22:32630990	codon	c.755AGT>AAT
chr22:32630990	protein	p.252S>N
chr22:32630990	worst	missense
chr22:32630990	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32630990	nvar	1
chr22:32630990	var	chr22:32630990:C/T
chr22:32634941	allele_ref	C
chr22:32634941	allele_alt	A
chr22:32634941	seqdb_ref	C
chr22:32634941	snp_fw_seq3	GCC/GAC
chr22:32634941	snp_rv_seq3	GGC/GTC
chr22:32634941	func	intronic
chr22:32634941	transcript	NM_014227
chr22:32634941	genomic	.
chr22:32634941	codon	.
chr22:32634941	protein	.
chr22:32634941	worst	intronic
chr22:32634941	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32634941	nvar	1
chr22:32634941	var	chr22:32634941:C/A
chr22:32635119	allele_ref	G
chr22:32635119	allele_alt	T
chr22:32635119	seqdb_ref	G
chr22:32635119	snp_fw_seq3	TGA/TTA
chr22:32635119	snp_rv_seq3	TCA/TAA
chr22:32635119	func	intronic
chr22:32635119	transcript	NM_014227
chr22:32635119	genomic	.
chr22:32635119	codon	.
chr22:32635119	protein	.
chr22:32635119	worst	intronic
chr22:32635119	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32635119	nvar	1
chr22:32635119	var	chr22:32635119:G/T
chr22:32650200	allele_ref	C
chr22:32650200	allele_alt	T
chr22:32650200	seqdb_ref	C
chr22:32650200	snp_fw_seq3	GCC/GTC
chr22:32650200	snp_rv_seq3	GGC/GAC
chr22:32650200	func	splice-acceptor-ex1g,missense
chr22:32650200	annot_details	DIST=0,NMD=0,OFPTV=1,EXIN=2,ISEQ=GACTCG,ESEQ=GTAGCG,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS2+0G>A
chr22:32650200	transcript	NM_014227,NM_014227
chr22:32650200	genomic	.,g.136C>T
chr22:32650200	codon	.,c.136GCG>ACG
chr22:32650200	protein	.,p.46A>T
chr22:32650200	worst	csplice
chr22:32650200	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=1,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32650200	nvar	1
chr22:32650200	var	chr22:32650200:C/T
chr22:32651262	allele_ref	A
chr22:32651262	allele_alt	G
chr22:32651262	seqdb_ref	A
chr22:32651262	snp_fw_seq3	AAT/AGT
chr22:32651262	snp_rv_seq3	ATT/ACT
chr22:32651262	func	silent
chr22:32651262	transcript	NM_014227
chr22:32651262	genomic	.
chr22:32651262	codon	.
chr22:32651262	protein	.
chr22:32651262	worst	silent
chr22:32651262	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32651262	nvar	1
chr22:32651262	var	chr22:32651262:A/G
chr22:32651295	allele_ref	T
chr22:32651295	allele_alt	A
chr22:32651295	seqdb_ref	T
chr22:32651295	snp_fw_seq3	CTG/CAG
chr22:32651295	snp_rv_seq3	CAG/CTG
chr22:32651295	func	missense
chr22:32651295	transcript	NM_014227
chr22:32651295	genomic	g.22T>A
chr22:32651295	codon	c.22AGC>TGC
chr22:32651295	protein	p.8S>C
chr22:32651295	worst	missense
chr22:32651295	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32651295	nvar	1
chr22:32651295	var	chr22:32651295:T/A
chr22:32651306	allele_ref	G
chr22:32651306	allele_alt	A
chr22:32651306	seqdb_ref	G
chr22:32651306	snp_fw_seq3	CGT/CAT
chr22:32651306	snp_rv_seq3	ACG/ATG
chr22:32651306	func	missense
chr22:32651306	transcript	NM_014227
chr22:32651306	genomic	g.11G>A
chr22:32651306	codon	c.11ACG>ATG
chr22:32651306	protein	p.4T>M
chr22:32651306	worst	missense
chr22:32651306	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32651306	nvar	1
chr22:32651306	var	chr22:32651306:G/A
chr22:32754386	allele_ref	C
chr22:32754386	allele_alt	A
chr22:32754386	seqdb_ref	C
chr22:32754386	snp_fw_seq3	GCT/GAT
chr22:32754386	snp_rv_seq3	AGC/ATC
chr22:32754386	func	missense,missense
chr22:32754386	transcript	NM_001098535,NM_006604
chr22:32754386	genomic	g.328C>A,g.241C>A
chr22:32754386	codon	c.328CTG>ATG,c.241CTG>ATG
chr22:32754386	protein	p.110L>M,p.81L>M
chr22:32754386	worst	missense
chr22:32754386	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32754386	nvar	1
chr22:32754386	var	chr22:32754386:C/A
chr22:32756241	allele_ref	G
chr22:32756241	allele_alt	A
chr22:32756241	seqdb_ref	G
chr22:32756241	snp_fw_seq3	GGA/GAA
chr22:32756241	snp_rv_seq3	TCC/TTC
chr22:32756241	func	splice,missense,splice,missense,npcRNA,npcRNA
chr22:32756241	annot_details	DIST=2,NMD=0,OFPTV=1,EXIN=2,ISEQ=TCACAG,ESEQ=TGGATA,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS2+2G>A,DIST=2,NMD=0,OFPTV=0,EXIN=3,ISEQ=TCACAG,ESEQ=TGGATA,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS3+2G>A
chr22:32756241	transcript	NM_001098535,NM_001098535,NM_006604,NM_006604,NR_001450,NR_002596
chr22:32756241	genomic	.,g.376G>A,.,g.289G>A,.,.
chr22:32756241	codon	.,c.376GAT>AAT,.,c.289GAT>AAT,.,.
chr22:32756241	protein	.,p.126D>N,.,p.97D>N,.,.
chr22:32756241	worst	missense
chr22:32756241	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:32756241	nvar	1
chr22:32756241	var	chr22:32756241:G/A
chr22:32756407	allele_ref	A
chr22:32756407	allele_alt	G
chr22:32756407	seqdb_ref	A
chr22:32756407	snp_fw_seq3	TAC/TGC
chr22:32756407	snp_rv_seq3	GTA/GCA
chr22:32756407	func	missense,missense,npcRNA,npcRNA
chr22:32756407	transcript	NM_001098535,NM_006604,NR_001450,NR_002596
chr22:32756407	genomic	g.542A>G,g.455A>G,.,.
chr22:32756407	codon	c.542TAC>TGC,c.455TAC>TGC,.,.
chr22:32756407	protein	p.181Y>C,p.152Y>C,.,.
chr22:32756407	worst	missense
chr22:32756407	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:32756407	nvar	1
chr22:32756407	var	chr22:32756407:A/G
chr22:32756744	allele_ref	A
chr22:32756744	allele_alt	G
chr22:32756744	seqdb_ref	A
chr22:32756744	snp_fw_seq3	AAG/AGG
chr22:32756744	snp_rv_seq3	CTT/CCT
chr22:32756744	func	silent,silent,npcRNA,npcRNA
chr22:32756744	transcript	NM_001098535,NM_006604,NR_001450,NR_002596
chr22:32756744	genomic	.,.,.,.
chr22:32756744	codon	.,.,.,.
chr22:32756744	protein	.,.,.,.
chr22:32756744	worst	silent
chr22:32756744	class	mixed,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:32756744	nvar	1
chr22:32756744	var	chr22:32756744:A/G
chr22:32783959	allele_ref	C
chr22:32783959	allele_alt	T
chr22:32783959	seqdb_ref	C
chr22:32783959	snp_fw_seq3	GCA/GTA
chr22:32783959	snp_rv_seq3	TGC/TAC
chr22:32783959	func	3-UTR
chr22:32783959	transcript	NM_014306
chr22:32783959	genomic	.
chr22:32783959	codon	.
chr22:32783959	protein	.
chr22:32783959	worst	UTR3
chr22:32783959	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:32783959	nvar	1
chr22:32783959	var	chr22:32783959:C/T
chr22:32784051	allele_ref	T
chr22:32784051	allele_alt	C
chr22:32784051	seqdb_ref	T
chr22:32784051	snp_fw_seq3	TTA/TCA
chr22:32784051	snp_rv_seq3	TAA/TGA
chr22:32784051	func	silent
chr22:32784051	transcript	NM_014306
chr22:32784051	genomic	.
chr22:32784051	codon	.
chr22:32784051	protein	.
chr22:32784051	worst	silent
chr22:32784051	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32784051	nvar	1
chr22:32784051	var	chr22:32784051:T/C
chr22:32788197	allele_ref	T
chr22:32788197	allele_alt	C
chr22:32788197	seqdb_ref	T
chr22:32788197	snp_fw_seq3	ATA/ACA
chr22:32788197	snp_rv_seq3	TAT/TGT
chr22:32788197	func	intronic
chr22:32788197	transcript	NM_014306
chr22:32788197	genomic	.
chr22:32788197	codon	.
chr22:32788197	protein	.
chr22:32788197	worst	intronic
chr22:32788197	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32788197	nvar	1
chr22:32788197	var	chr22:32788197:T/C
chr22:32788248	allele_ref	T
chr22:32788248	allele_alt	A
chr22:32788248	seqdb_ref	T
chr22:32788248	snp_fw_seq3	GTG/GAG
chr22:32788248	snp_rv_seq3	CAC/CTC
chr22:32788248	func	silent
chr22:32788248	transcript	NM_014306
chr22:32788248	genomic	.
chr22:32788248	codon	.
chr22:32788248	protein	.
chr22:32788248	worst	silent
chr22:32788248	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32788248	nvar	1
chr22:32788248	var	chr22:32788248:T/A
chr22:32790981	allele_ref	C
chr22:32790981	allele_alt	G
chr22:32790981	seqdb_ref	C
chr22:32790981	snp_fw_seq3	ACT/AGT
chr22:32790981	snp_rv_seq3	AGT/ACT
chr22:32790981	func	intronic
chr22:32790981	transcript	NM_014306
chr22:32790981	genomic	.
chr22:32790981	codon	.
chr22:32790981	protein	.
chr22:32790981	worst	intronic
chr22:32790981	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32790981	nvar	1
chr22:32790981	var	chr22:32790981:C/G
chr22:32791003	allele_ref	A
chr22:32791003	allele_alt	C
chr22:32791003	seqdb_ref	A
chr22:32791003	snp_fw_seq3	GAG/GCG
chr22:32791003	snp_rv_seq3	CTC/CGC
chr22:32791003	func	intronic
chr22:32791003	transcript	NM_014306
chr22:32791003	genomic	.
chr22:32791003	codon	.
chr22:32791003	protein	.
chr22:32791003	worst	intronic
chr22:32791003	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32791003	nvar	1
chr22:32791003	var	chr22:32791003:A/C
chr22:32792223	allele_ref	A
chr22:32792223	allele_alt	G
chr22:32792223	seqdb_ref	A
chr22:32792223	snp_fw_seq3	TAG/TGG
chr22:32792223	snp_rv_seq3	CTA/CCA
chr22:32792223	func	silent
chr22:32792223	transcript	NM_014306
chr22:32792223	genomic	.
chr22:32792223	codon	.
chr22:32792223	protein	.
chr22:32792223	worst	silent
chr22:32792223	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32792223	nvar	1
chr22:32792223	var	chr22:32792223:A/G
chr22:32795626	allele_ref	T
chr22:32795626	allele_alt	C
chr22:32795626	seqdb_ref	T
chr22:32795626	snp_fw_seq3	CTT/CCT
chr22:32795626	snp_rv_seq3	AAG/AGG
chr22:32795626	func	silent
chr22:32795626	transcript	NM_014306
chr22:32795626	genomic	.
chr22:32795626	codon	.
chr22:32795626	protein	.
chr22:32795626	worst	silent
chr22:32795626	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32795626	nvar	1
chr22:32795626	var	chr22:32795626:T/C
chr22:32795641	allele_ref	C
chr22:32795641	allele_alt	T
chr22:32795641	seqdb_ref	C
chr22:32795641	snp_fw_seq3	CCT/CTT
chr22:32795641	snp_rv_seq3	AGG/AAG
chr22:32795641	func	silent
chr22:32795641	transcript	NM_014306
chr22:32795641	genomic	.
chr22:32795641	codon	.
chr22:32795641	protein	.
chr22:32795641	worst	silent
chr22:32795641	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32795641	nvar	1
chr22:32795641	var	chr22:32795641:C/T
chr22:32802631	allele_ref	T
chr22:32802631	allele_alt	G
chr22:32802631	seqdb_ref	T
chr22:32802631	snp_fw_seq3	ATG/AGG
chr22:32802631	snp_rv_seq3	CAT/CCT
chr22:32802631	func	intronic
chr22:32802631	transcript	NM_014306
chr22:32802631	genomic	.
chr22:32802631	codon	.
chr22:32802631	protein	.
chr22:32802631	worst	intronic
chr22:32802631	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32802631	nvar	1
chr22:32802631	var	chr22:32802631:T/G
chr22:32802680	allele_ref	A
chr22:32802680	allele_alt	G
chr22:32802680	seqdb_ref	A
chr22:32802680	snp_fw_seq3	TAT/TGT
chr22:32802680	snp_rv_seq3	ATA/ACA
chr22:32802680	func	silent
chr22:32802680	transcript	NM_014306
chr22:32802680	genomic	.
chr22:32802680	codon	.
chr22:32802680	protein	.
chr22:32802680	worst	silent
chr22:32802680	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32802680	nvar	1
chr22:32802680	var	chr22:32802680:A/G
chr22:32804122	allele_ref	T
chr22:32804122	allele_alt	C
chr22:32804122	seqdb_ref	T
chr22:32804122	snp_fw_seq3	TTA/TCA
chr22:32804122	snp_rv_seq3	TAA/TGA
chr22:32804122	func	intronic
chr22:32804122	transcript	NM_014306
chr22:32804122	genomic	.
chr22:32804122	codon	.
chr22:32804122	protein	.
chr22:32804122	worst	intronic
chr22:32804122	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32804122	nvar	1
chr22:32804122	var	chr22:32804122:T/C
chr22:32808011	allele_ref	C
chr22:32808011	allele_alt	G
chr22:32808011	seqdb_ref	C
chr22:32808011	snp_fw_seq3	ACG/AGG
chr22:32808011	snp_rv_seq3	CGT/CCT
chr22:32808011	func	intronic
chr22:32808011	transcript	NM_014306
chr22:32808011	genomic	.
chr22:32808011	codon	.
chr22:32808011	protein	.
chr22:32808011	worst	intronic
chr22:32808011	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32808011	nvar	1
chr22:32808011	var	chr22:32808011:C/G
chr22:32808078	allele_ref	G
chr22:32808078	allele_alt	A
chr22:32808078	seqdb_ref	G
chr22:32808078	snp_fw_seq3	TGA/TAA
chr22:32808078	snp_rv_seq3	TCA/TTA
chr22:32808078	func	silent
chr22:32808078	transcript	NM_014306
chr22:32808078	genomic	.
chr22:32808078	codon	.
chr22:32808078	protein	.
chr22:32808078	worst	silent
chr22:32808078	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32808078	nvar	1
chr22:32808078	var	chr22:32808078:G/A
chr22:32810378	allele_ref	T
chr22:32810378	allele_alt	G
chr22:32810378	seqdb_ref	T
chr22:32810378	snp_fw_seq3	TTC/TGC
chr22:32810378	snp_rv_seq3	GAA/GCA
chr22:32810378	func	missense
chr22:32810378	transcript	NM_174932
chr22:32810378	genomic	g.1436T>G
chr22:32810378	codon	c.1436GAA>GCA
chr22:32810378	protein	p.479E>A
chr22:32810378	worst	missense
chr22:32810378	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32810378	nvar	1
chr22:32810378	var	chr22:32810378:T/G
chr22:32811884	allele_ref	T
chr22:32811884	allele_alt	C
chr22:32811884	seqdb_ref	T
chr22:32811884	snp_fw_seq3	GTG/GCG
chr22:32811884	snp_rv_seq3	CAC/CGC
chr22:32811884	func	intronic
chr22:32811884	transcript	NM_174932
chr22:32811884	genomic	.
chr22:32811884	codon	.
chr22:32811884	protein	.
chr22:32811884	worst	intronic
chr22:32811884	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32811884	nvar	1
chr22:32811884	var	chr22:32811884:T/C
chr22:32811952	allele_ref	A
chr22:32811952	allele_alt	G
chr22:32811952	seqdb_ref	A
chr22:32811952	snp_fw_seq3	GAC/GGC
chr22:32811952	snp_rv_seq3	GTC/GCC
chr22:32811952	func	missense
chr22:32811952	transcript	NM_174932
chr22:32811952	genomic	g.1351A>G
chr22:32811952	codon	c.1351TCC>CCC
chr22:32811952	protein	p.451S>P
chr22:32811952	worst	missense
chr22:32811952	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32811952	nvar	1
chr22:32811952	var	chr22:32811952:A/G
chr22:32811973	allele_ref	A
chr22:32811973	allele_alt	G
chr22:32811973	seqdb_ref	A
chr22:32811973	snp_fw_seq3	AAT/AGT
chr22:32811973	snp_rv_seq3	ATT/ACT
chr22:32811973	func	silent
chr22:32811973	transcript	NM_174932
chr22:32811973	genomic	.
chr22:32811973	codon	.
chr22:32811973	protein	.
chr22:32811973	worst	silent
chr22:32811973	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32811973	nvar	1
chr22:32811973	var	chr22:32811973:A/G
chr22:32811998	allele_ref	G
chr22:32811998	allele_alt	A
chr22:32811998	seqdb_ref	G
chr22:32811998	snp_fw_seq3	CGT/CAT
chr22:32811998	snp_rv_seq3	ACG/ATG
chr22:32811998	func	intronic
chr22:32811998	transcript	NM_174932
chr22:32811998	genomic	.
chr22:32811998	codon	.
chr22:32811998	protein	.
chr22:32811998	worst	intronic
chr22:32811998	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32811998	nvar	1
chr22:32811998	var	chr22:32811998:G/A
chr22:32828343	allele_ref	T
chr22:32828343	allele_alt	C
chr22:32828343	seqdb_ref	T
chr22:32828343	snp_fw_seq3	CTG/CCG
chr22:32828343	snp_rv_seq3	CAG/CGG
chr22:32828343	func	intronic
chr22:32828343	transcript	NM_174932
chr22:32828343	genomic	.
chr22:32828343	codon	.
chr22:32828343	protein	.
chr22:32828343	worst	intronic
chr22:32828343	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32828343	nvar	1
chr22:32828343	var	chr22:32828343:T/C
chr22:32828544	allele_ref	G
chr22:32828544	allele_alt	A
chr22:32828544	seqdb_ref	G
chr22:32828544	snp_fw_seq3	CGA/CAA
chr22:32828544	snp_rv_seq3	TCG/TTG
chr22:32828544	func	intronic
chr22:32828544	transcript	NM_174932
chr22:32828544	genomic	.
chr22:32828544	codon	.
chr22:32828544	protein	.
chr22:32828544	worst	intronic
chr22:32828544	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32828544	nvar	1
chr22:32828544	var	chr22:32828544:G/A
chr22:32831711	allele_ref	C
chr22:32831711	allele_alt	G
chr22:32831711	seqdb_ref	C
chr22:32831711	snp_fw_seq3	ACA/AGA
chr22:32831711	snp_rv_seq3	TGT/TCT
chr22:32831711	func	missense
chr22:32831711	transcript	NM_174932
chr22:32831711	genomic	g.904C>G
chr22:32831711	codon	c.904GTC>CTC
chr22:32831711	protein	p.302V>L
chr22:32831711	worst	missense
chr22:32831711	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32831711	nvar	1
chr22:32831711	var	chr22:32831711:C/G
chr22:32831809	allele_ref	A
chr22:32831809	allele_alt	G
chr22:32831809	seqdb_ref	A
chr22:32831809	snp_fw_seq3	CAC/CGC
chr22:32831809	snp_rv_seq3	GTG/GCG
chr22:32831809	func	missense
chr22:32831809	transcript	NM_174932
chr22:32831809	genomic	g.806A>G
chr22:32831809	codon	c.806GTG>GCG
chr22:32831809	protein	p.269V>A
chr22:32831809	worst	missense
chr22:32831809	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32831809	nvar	1
chr22:32831809	var	chr22:32831809:A/G
chr22:32831830	allele_ref	G
chr22:32831830	allele_alt	A
chr22:32831830	seqdb_ref	G
chr22:32831830	snp_fw_seq3	GGG/GAG
chr22:32831830	snp_rv_seq3	CCC/CTC
chr22:32831830	func	missense
chr22:32831830	transcript	NM_174932
chr22:32831830	genomic	g.785G>A
chr22:32831830	codon	c.785CCC>CTC
chr22:32831830	protein	p.262P>L
chr22:32831830	worst	missense
chr22:32831830	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32831830	nvar	1
chr22:32831830	var	chr22:32831830:G/A
chr22:32831837	allele_ref	C
chr22:32831837	allele_alt	T
chr22:32831837	seqdb_ref	C
chr22:32831837	snp_fw_seq3	TCG/TTG
chr22:32831837	snp_rv_seq3	CGA/CAA
chr22:32831837	func	missense
chr22:32831837	transcript	NM_174932
chr22:32831837	genomic	g.778C>T
chr22:32831837	codon	c.778GAC>AAC
chr22:32831837	protein	p.260D>N
chr22:32831837	worst	missense
chr22:32831837	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32831837	nvar	1
chr22:32831837	var	chr22:32831837:C/T
chr22:32843312	allele_ref	G
chr22:32843312	allele_alt	A
chr22:32843312	seqdb_ref	G
chr22:32843312	snp_fw_seq3	AGG/AAG
chr22:32843312	snp_rv_seq3	CCT/CTT
chr22:32843312	func	silent
chr22:32843312	transcript	NM_174932
chr22:32843312	genomic	.
chr22:32843312	codon	.
chr22:32843312	protein	.
chr22:32843312	worst	silent
chr22:32843312	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32843312	nvar	1
chr22:32843312	var	chr22:32843312:G/A
chr22:32849470	allele_ref	T
chr22:32849470	allele_alt	A
chr22:32849470	seqdb_ref	T
chr22:32849470	snp_fw_seq3	ATC/AAC
chr22:32849470	snp_rv_seq3	GAT/GTT
chr22:32849470	func	missense
chr22:32849470	transcript	NM_174932
chr22:32849470	genomic	g.145T>A
chr22:32849470	codon	c.145ATG>TTG
chr22:32849470	protein	p.49M>L
chr22:32849470	worst	missense
chr22:32849470	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32849470	nvar	1
chr22:32849470	var	chr22:32849470:T/A
chr22:32849525	allele_ref	G
chr22:32849525	allele_alt	A
chr22:32849525	seqdb_ref	G
chr22:32849525	snp_fw_seq3	TGA/TAA
chr22:32849525	snp_rv_seq3	TCA/TTA
chr22:32849525	func	intronic
chr22:32849525	transcript	NM_174932
chr22:32849525	genomic	.
chr22:32849525	codon	.
chr22:32849525	protein	.
chr22:32849525	worst	intronic
chr22:32849525	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32849525	nvar	1
chr22:32849525	var	chr22:32849525:G/A
chr22:32871383	allele_ref	T
chr22:32871383	allele_alt	G
chr22:32871383	seqdb_ref	T
chr22:32871383	snp_fw_seq3	CTC/CGC
chr22:32871383	snp_rv_seq3	GAG/GCG
chr22:32871383	func	splice,missense,intronic
chr22:32871383	annot_details	DIST=-2,NMD=0,OFPTV=0,EXIN=1,ISEQ=GTGAGT,ESEQ=TCCTCG,SPLICE_TYPE=donor,ALT=G,HGVS=c.IVS1+-2T>G
chr22:32871383	transcript	NM_001033024,NM_001033024,NM_012179
chr22:32871383	genomic	.,g.35T>G,.
chr22:32871383	codon	.,c.35CTC>CGC,.
chr22:32871383	protein	.,p.12L>R,.
chr22:32871383	worst	missense
chr22:32871383	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32871383	nvar	1
chr22:32871383	var	chr22:32871383:T/G
chr22:32875190	allele_ref	G
chr22:32875190	allele_alt	A
chr22:32875190	seqdb_ref	G
chr22:32875190	snp_fw_seq3	TGC/TAC
chr22:32875190	snp_rv_seq3	GCA/GTA
chr22:32875190	func	missense,missense
chr22:32875190	transcript	NM_001033024,NM_012179
chr22:32875190	genomic	g.108G>A,g.345G>A
chr22:32875190	codon	c.108ATG>ATA,c.345ATG>ATA
chr22:32875190	protein	p.36M>I,p.115M>I
chr22:32875190	worst	missense
chr22:32875190	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32875190	nvar	1
chr22:32875190	var	chr22:32875190:G/A
chr22:32880143	allele_ref	A
chr22:32880143	allele_alt	G
chr22:32880143	seqdb_ref	A
chr22:32880143	snp_fw_seq3	TAT/TGT
chr22:32880143	snp_rv_seq3	ATA/ACA
chr22:32880143	func	intronic,intronic
chr22:32880143	transcript	NM_001033024,NM_012179
chr22:32880143	genomic	.,.
chr22:32880143	codon	.,.
chr22:32880143	protein	.,.
chr22:32880143	worst	intronic
chr22:32880143	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32880143	nvar	1
chr22:32880143	var	chr22:32880143:A/G
chr22:32887150	allele_ref	C
chr22:32887150	allele_alt	T
chr22:32887150	seqdb_ref	C
chr22:32887150	snp_fw_seq3	TCT/TTT
chr22:32887150	snp_rv_seq3	AGA/AAA
chr22:32887150	func	silent,silent
chr22:32887150	transcript	NM_001033024,NM_012179
chr22:32887150	genomic	.,.
chr22:32887150	codon	.,.
chr22:32887150	protein	.,.
chr22:32887150	worst	silent
chr22:32887150	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32887150	nvar	1
chr22:32887150	var	chr22:32887150:C/T
chr22:32889065	allele_ref	C
chr22:32889065	allele_alt	G
chr22:32889065	seqdb_ref	C
chr22:32889065	snp_fw_seq3	CCT/CGT
chr22:32889065	snp_rv_seq3	AGG/ACG
chr22:32889065	func	intronic,intronic
chr22:32889065	transcript	NM_001033024,NM_012179
chr22:32889065	genomic	.,.
chr22:32889065	codon	.,.
chr22:32889065	protein	.,.
chr22:32889065	worst	intronic
chr22:32889065	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32889065	nvar	1
chr22:32889065	var	chr22:32889065:C/G
chr22:32889078	allele_ref	T
chr22:32889078	allele_alt	G
chr22:32889078	seqdb_ref	T
chr22:32889078	snp_fw_seq3	TTT/TGT
chr22:32889078	snp_rv_seq3	AAA/ACA
chr22:32889078	func	intronic,intronic
chr22:32889078	transcript	NM_001033024,NM_012179
chr22:32889078	genomic	.,.
chr22:32889078	codon	.,.
chr22:32889078	protein	.,.
chr22:32889078	worst	intronic
chr22:32889078	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32889078	nvar	1
chr22:32889078	var	chr22:32889078:T/G
chr22:32889293	allele_ref	C
chr22:32889293	allele_alt	T
chr22:32889293	seqdb_ref	C
chr22:32889293	snp_fw_seq3	ACA/ATA
chr22:32889293	snp_rv_seq3	TGT/TAT
chr22:32889293	func	intronic,intronic
chr22:32889293	transcript	NM_001033024,NM_012179
chr22:32889293	genomic	.,.
chr22:32889293	codon	.,.
chr22:32889293	protein	.,.
chr22:32889293	worst	intronic
chr22:32889293	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32889293	nvar	1
chr22:32889293	var	chr22:32889293:C/T
chr22:32894453	allele_ref	A
chr22:32894453	allele_alt	G
chr22:32894453	seqdb_ref	A
chr22:32894453	snp_fw_seq3	AAT/AGT
chr22:32894453	snp_rv_seq3	ATT/ACT
chr22:32894453	func	missense,missense
chr22:32894453	transcript	NM_001033024,NM_012179
chr22:32894453	genomic	g.1268A>G,g.1505A>G
chr22:32894453	codon	c.1268AAT>AGT,c.1505AAT>AGT
chr22:32894453	protein	p.423N>S,p.502N>S
chr22:32894453	worst	missense
chr22:32894453	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32894453	nvar	1
chr22:32894453	var	chr22:32894453:A/G
chr22:32914089	allele_ref	A
chr22:32914089	allele_alt	G
chr22:32914089	seqdb_ref	A
chr22:32914089	snp_fw_seq3	TAC/TGC
chr22:32914089	snp_rv_seq3	GTA/GCA
chr22:32914089	func	silent,silent,intronic
chr22:32914089	transcript	NM_001135774,NM_003490,NM_133633
chr22:32914089	genomic	.,.,.
chr22:32914089	codon	.,.,.
chr22:32914089	protein	.,.,.
chr22:32914089	worst	silent
chr22:32914089	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32914089	nvar	1
chr22:32914089	var	chr22:32914089:A/G
chr22:32914231	allele_ref	C
chr22:32914231	allele_alt	T
chr22:32914231	seqdb_ref	C
chr22:32914231	snp_fw_seq3	GCT/GTT
chr22:32914231	snp_rv_seq3	AGC/AAC
chr22:32914231	func	missense,missense,intronic
chr22:32914231	transcript	NM_001135774,NM_003490,NM_133633
chr22:32914231	genomic	g.1406C>T,g.1409C>T,.
chr22:32914231	codon	c.1406AGC>AAC,c.1409AGC>AAC,.
chr22:32914231	protein	p.469S>N,p.470S>N,.
chr22:32914231	worst	missense
chr22:32914231	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32914231	nvar	1
chr22:32914231	var	chr22:32914231:C/T
chr22:32914233	allele_ref	C
chr22:32914233	allele_alt	T
chr22:32914233	seqdb_ref	C
chr22:32914233	snp_fw_seq3	TCA/TTA
chr22:32914233	snp_rv_seq3	TGA/TAA
chr22:32914233	func	silent,silent,intronic
chr22:32914233	transcript	NM_001135774,NM_003490,NM_133633
chr22:32914233	genomic	.,.,.
chr22:32914233	codon	.,.,.
chr22:32914233	protein	.,.,.
chr22:32914233	worst	silent
chr22:32914233	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32914233	nvar	1
chr22:32914233	var	chr22:32914233:C/T
chr22:32924840	allele_ref	C
chr22:32924840	allele_alt	T
chr22:32924840	seqdb_ref	C
chr22:32924840	snp_fw_seq3	CCT/CTT
chr22:32924840	snp_rv_seq3	AGG/AAG
chr22:32924840	func	intronic,intronic,intronic
chr22:32924840	transcript	NM_001135774,NM_003490,NM_133633
chr22:32924840	genomic	.,.,.
chr22:32924840	codon	.,.,.
chr22:32924840	protein	.,.,.
chr22:32924840	worst	intronic
chr22:32924840	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32924840	nvar	1
chr22:32924840	var	chr22:32924840:C/T
chr22:32924854	allele_ref	G
chr22:32924854	allele_alt	T
chr22:32924854	seqdb_ref	G
chr22:32924854	snp_fw_seq3	GGT/GTT
chr22:32924854	snp_rv_seq3	ACC/AAC
chr22:32924854	func	intronic,intronic,intronic
chr22:32924854	transcript	NM_001135774,NM_003490,NM_133633
chr22:32924854	genomic	.,.,.
chr22:32924854	codon	.,.,.
chr22:32924854	protein	.,.,.
chr22:32924854	worst	intronic
chr22:32924854	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32924854	nvar	1
chr22:32924854	var	chr22:32924854:G/T
chr22:32937740	allele_ref	T
chr22:32937740	allele_alt	C
chr22:32937740	seqdb_ref	T
chr22:32937740	snp_fw_seq3	GTG/GCG
chr22:32937740	snp_rv_seq3	CAC/CGC
chr22:32937740	func	intronic,intronic,intronic
chr22:32937740	transcript	NM_001135774,NM_003490,NM_133633
chr22:32937740	genomic	.,.,.
chr22:32937740	codon	.,.,.
chr22:32937740	protein	.,.,.
chr22:32937740	worst	intronic
chr22:32937740	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:32937740	nvar	1
chr22:32937740	var	chr22:32937740:T/C
chr22:33253186	allele_ref	G
chr22:33253186	allele_alt	A
chr22:33253186	seqdb_ref	g
chr22:33253186	snp_fw_seq3	cgg/cAg
chr22:33253186	snp_rv_seq3	ccg/cTg
chr22:33253186	func	intronic,intronic,intronic,intronic
chr22:33253186	transcript	NM_000362,NM_001135774,NM_003490,NM_133633
chr22:33253186	genomic	.,.,.,.
chr22:33253186	codon	.,.,.,.
chr22:33253186	protein	.,.,.,.
chr22:33253186	worst	intronic
chr22:33253186	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:33253186	nvar	1
chr22:33253186	var	chr22:33253186:G/A
chr22:33253280	allele_ref	T
chr22:33253280	allele_alt	C
chr22:33253280	seqdb_ref	T
chr22:33253280	snp_fw_seq3	ATA/ACA
chr22:33253280	snp_rv_seq3	TAT/TGT
chr22:33253280	func	silent,intronic,intronic,intronic
chr22:33253280	transcript	NM_000362,NM_001135774,NM_003490,NM_133633
chr22:33253280	genomic	.,.,.,.
chr22:33253280	codon	.,.,.,.
chr22:33253280	protein	.,.,.,.
chr22:33253280	worst	silent
chr22:33253280	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:33253280	nvar	1
chr22:33253280	var	chr22:33253280:T/C
chr22:33254112	allele_ref	G
chr22:33254112	allele_alt	A
chr22:33254112	seqdb_ref	G
chr22:33254112	snp_fw_seq3	GGT/GAT
chr22:33254112	snp_rv_seq3	ACC/ATC
chr22:33254112	func	missense,intronic,intronic,intronic
chr22:33254112	transcript	NM_000362,NM_001135774,NM_003490,NM_133633
chr22:33254112	genomic	g.425G>A,.,.,.
chr22:33254112	codon	c.425GGT>GAT,.,.,.
chr22:33254112	protein	p.142G>D,.,.,.
chr22:33254112	worst	missense
chr22:33254112	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:33254112	nvar	1
chr22:33254112	var	chr22:33254112:G/A
chr22:33327354	allele_ref	G
chr22:33327354	allele_alt	A
chr22:33327354	seqdb_ref	G
chr22:33327354	snp_fw_seq3	TGC/TAC
chr22:33327354	snp_rv_seq3	GCA/GTA
chr22:33327354	func	intronic,intronic,intronic
chr22:33327354	transcript	NM_001135774,NM_003490,NM_133633
chr22:33327354	genomic	.,.,.
chr22:33327354	codon	.,.,.
chr22:33327354	protein	.,.,.
chr22:33327354	worst	intronic
chr22:33327354	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:33327354	nvar	1
chr22:33327354	var	chr22:33327354:G/A
chr22:33402292	allele_ref	C
chr22:33402292	allele_alt	T
chr22:33402292	seqdb_ref	C
chr22:33402292	snp_fw_seq3	CCT/CTT
chr22:33402292	snp_rv_seq3	AGG/AAG
chr22:33402292	func	intronic,intronic,intronic
chr22:33402292	transcript	NM_001135774,NM_003490,NM_133633
chr22:33402292	genomic	.,.,.
chr22:33402292	codon	.,.,.
chr22:33402292	protein	.,.,.
chr22:33402292	worst	intronic
chr22:33402292	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:33402292	nvar	1
chr22:33402292	var	chr22:33402292:C/T
chr22:33402579	allele_ref	C
chr22:33402579	allele_alt	T
chr22:33402579	seqdb_ref	C
chr22:33402579	snp_fw_seq3	CCG/CTG
chr22:33402579	snp_rv_seq3	CGG/CAG
chr22:33402579	func	silent,silent,silent
chr22:33402579	transcript	NM_001135774,NM_003490,NM_133633
chr22:33402579	genomic	.,.,.
chr22:33402579	codon	.,.,.
chr22:33402579	protein	.,.,.
chr22:33402579	worst	silent
chr22:33402579	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:33402579	nvar	1
chr22:33402579	var	chr22:33402579:C/T
chr22:33673170	allele_ref	C
chr22:33673170	allele_alt	T
chr22:33673170	seqdb_ref	C
chr22:33673170	snp_fw_seq3	CCG/CTG
chr22:33673170	snp_rv_seq3	CGG/CAG
chr22:33673170	func	missense,missense
chr22:33673170	transcript	NM_004737,NM_133642
chr22:33673170	genomic	g.1949C>T,g.1949C>T
chr22:33673170	codon	c.1949CGG>CAG,c.1949CGG>CAG
chr22:33673170	protein	p.650R>Q,p.650R>Q
chr22:33673170	worst	missense
chr22:33673170	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:33673170	nvar	1
chr22:33673170	var	chr22:33673170:C/T
chr22:33679238	allele_ref	T
chr22:33679238	allele_alt	C
chr22:33679238	seqdb_ref	T
chr22:33679238	snp_fw_seq3	TTG/TCG
chr22:33679238	snp_rv_seq3	CAA/CGA
chr22:33679238	func	silent,silent
chr22:33679238	transcript	NM_004737,NM_133642
chr22:33679238	genomic	.,.
chr22:33679238	codon	.,.
chr22:33679238	protein	.,.
chr22:33679238	worst	silent
chr22:33679238	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:33679238	nvar	1
chr22:33679238	var	chr22:33679238:T/C
chr22:33700397	allele_ref	G
chr22:33700397	allele_alt	A
chr22:33700397	seqdb_ref	G
chr22:33700397	snp_fw_seq3	CGT/CAT
chr22:33700397	snp_rv_seq3	ACG/ATG
chr22:33700397	func	silent,silent
chr22:33700397	transcript	NM_004737,NM_133642
chr22:33700397	genomic	.,.
chr22:33700397	codon	.,.
chr22:33700397	protein	.,.
chr22:33700397	worst	silent
chr22:33700397	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:33700397	nvar	1
chr22:33700397	var	chr22:33700397:G/A
chr22:33700521	allele_ref	G
chr22:33700521	allele_alt	A
chr22:33700521	seqdb_ref	G
chr22:33700521	snp_fw_seq3	CGG/CAG
chr22:33700521	snp_rv_seq3	CCG/CTG
chr22:33700521	func	intronic,intronic
chr22:33700521	transcript	NM_004737,NM_133642
chr22:33700521	genomic	.,.
chr22:33700521	codon	.,.
chr22:33700521	protein	.,.
chr22:33700521	worst	intronic
chr22:33700521	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:33700521	nvar	1
chr22:33700521	var	chr22:33700521:G/A
chr22:33733597	allele_ref	C
chr22:33733597	allele_alt	T
chr22:33733597	seqdb_ref	C
chr22:33733597	snp_fw_seq3	CCG/CTG
chr22:33733597	snp_rv_seq3	CGG/CAG
chr22:33733597	func	intronic,intronic
chr22:33733597	transcript	NM_004737,NM_133642
chr22:33733597	genomic	.,.
chr22:33733597	codon	.,.
chr22:33733597	protein	.,.
chr22:33733597	worst	intronic
chr22:33733597	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:33733597	nvar	1
chr22:33733597	var	chr22:33733597:C/T
chr22:33960913	allele_ref	C
chr22:33960913	allele_alt	T
chr22:33960913	seqdb_ref	C
chr22:33960913	snp_fw_seq3	TCT/TTT
chr22:33960913	snp_rv_seq3	AGA/AAA
chr22:33960913	func	silent,silent
chr22:33960913	transcript	NM_004737,NM_133642
chr22:33960913	genomic	.,.
chr22:33960913	codon	.,.
chr22:33960913	protein	.,.
chr22:33960913	worst	silent
chr22:33960913	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:33960913	nvar	1
chr22:33960913	var	chr22:33960913:C/T
chr22:34022179	allele_ref	G
chr22:34022179	allele_alt	A
chr22:34022179	seqdb_ref	G
chr22:34022179	snp_fw_seq3	AGG/AAG
chr22:34022179	snp_rv_seq3	CCT/CTT
chr22:34022179	func	intronic,intronic
chr22:34022179	transcript	NM_004737,NM_133642
chr22:34022179	genomic	.,.
chr22:34022179	codon	.,.
chr22:34022179	protein	.,.
chr22:34022179	worst	intronic
chr22:34022179	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:34022179	nvar	1
chr22:34022179	var	chr22:34022179:G/A
chr22:34022284	allele_ref	G
chr22:34022284	allele_alt	A
chr22:34022284	seqdb_ref	G
chr22:34022284	snp_fw_seq3	CGG/CAG
chr22:34022284	snp_rv_seq3	CCG/CTG
chr22:34022284	func	silent,silent
chr22:34022284	transcript	NM_004737,NM_133642
chr22:34022284	genomic	.,.
chr22:34022284	codon	.,.
chr22:34022284	protein	.,.
chr22:34022284	worst	silent
chr22:34022284	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:34022284	nvar	1
chr22:34022284	var	chr22:34022284:G/A
chr22:34046452	allele_ref	G
chr22:34046452	allele_alt	A
chr22:34046452	seqdb_ref	G
chr22:34046452	snp_fw_seq3	TGG/TAG
chr22:34046452	snp_rv_seq3	CCA/CTA
chr22:34046452	func	silent,silent
chr22:34046452	transcript	NM_004737,NM_133642
chr22:34046452	genomic	.,.
chr22:34046452	codon	.,.
chr22:34046452	protein	.,.
chr22:34046452	worst	silent
chr22:34046452	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:34046452	nvar	1
chr22:34046452	var	chr22:34046452:G/A
chr22:34046596	allele_ref	C
chr22:34046596	allele_alt	G
chr22:34046596	seqdb_ref	C
chr22:34046596	snp_fw_seq3	CCG/CGG
chr22:34046596	snp_rv_seq3	CGG/CCG
chr22:34046596	func	silent,silent
chr22:34046596	transcript	NM_004737,NM_133642
chr22:34046596	genomic	.,.
chr22:34046596	codon	.,.
chr22:34046596	protein	.,.
chr22:34046596	worst	silent
chr22:34046596	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:34046596	nvar	1
chr22:34046596	var	chr22:34046596:C/G
chr22:35463162	allele_ref	A
chr22:35463162	allele_alt	G
chr22:35463162	seqdb_ref	A
chr22:35463162	snp_fw_seq3	GAG/GGG
chr22:35463162	snp_rv_seq3	CTC/CCC
chr22:35463162	func	missense
chr22:35463162	transcript	NM_001008494
chr22:35463162	genomic	g.82A>G
chr22:35463162	codon	c.82AGC>GGC
chr22:35463162	protein	p.28S>G
chr22:35463162	worst	missense
chr22:35463162	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35463162	nvar	1
chr22:35463162	var	chr22:35463162:A/G
chr22:35463179	allele_ref	T
chr22:35463179	allele_alt	C
chr22:35463179	seqdb_ref	T
chr22:35463179	snp_fw_seq3	TTG/TCG
chr22:35463179	snp_rv_seq3	CAA/CGA
chr22:35463179	func	silent
chr22:35463179	transcript	NM_001008494
chr22:35463179	genomic	.
chr22:35463179	codon	.
chr22:35463179	protein	.
chr22:35463179	worst	silent
chr22:35463179	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35463179	nvar	1
chr22:35463179	var	chr22:35463179:T/C
chr22:35463215	allele_ref	T
chr22:35463215	allele_alt	C
chr22:35463215	seqdb_ref	T
chr22:35463215	snp_fw_seq3	ATA/ACA
chr22:35463215	snp_rv_seq3	TAT/TGT
chr22:35463215	func	silent
chr22:35463215	transcript	NM_001008494
chr22:35463215	genomic	.
chr22:35463215	codon	.
chr22:35463215	protein	.
chr22:35463215	worst	silent
chr22:35463215	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35463215	nvar	1
chr22:35463215	var	chr22:35463215:T/C
chr22:35463249	allele_ref	C
chr22:35463249	allele_alt	T
chr22:35463249	seqdb_ref	C
chr22:35463249	snp_fw_seq3	CCC/CTC
chr22:35463249	snp_rv_seq3	GGG/GAG
chr22:35463249	func	missense
chr22:35463249	transcript	NM_001008494
chr22:35463249	genomic	g.169C>T
chr22:35463249	codon	c.169CCC>TCC
chr22:35463249	protein	p.57P>S
chr22:35463249	worst	missense
chr22:35463249	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35463249	nvar	1
chr22:35463249	var	chr22:35463249:C/T
chr22:35478486	allele_ref	A
chr22:35478486	allele_alt	C
chr22:35478486	seqdb_ref	A
chr22:35478486	snp_fw_seq3	CAC/CCC
chr22:35478486	snp_rv_seq3	GTG/GGG
chr22:35478486	func	intronic
chr22:35478486	transcript	NM_001008494
chr22:35478486	genomic	.
chr22:35478486	codon	.
chr22:35478486	protein	.
chr22:35478486	worst	intronic
chr22:35478486	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35478486	nvar	1
chr22:35478486	var	chr22:35478486:A/C
chr22:35478688	allele_ref	C
chr22:35478688	allele_alt	T
chr22:35478688	seqdb_ref	C
chr22:35478688	snp_fw_seq3	CCA/CTA
chr22:35478688	snp_rv_seq3	TGG/TAG
chr22:35478688	func	intronic
chr22:35478688	transcript	NM_001008494
chr22:35478688	genomic	.
chr22:35478688	codon	.
chr22:35478688	protein	.
chr22:35478688	worst	intronic
chr22:35478688	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35478688	nvar	1
chr22:35478688	var	chr22:35478688:C/T
chr22:35480467	allele_ref	C
chr22:35480467	allele_alt	T
chr22:35480467	seqdb_ref	C
chr22:35480467	snp_fw_seq3	GCC/GTC
chr22:35480467	snp_rv_seq3	GGC/GAC
chr22:35480467	func	missense
chr22:35480467	transcript	NM_001008494
chr22:35480467	genomic	g.473C>T
chr22:35480467	codon	c.473GCC>GTC
chr22:35480467	protein	p.158A>V
chr22:35480467	worst	missense
chr22:35480467	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35480467	nvar	1
chr22:35480467	var	chr22:35480467:C/T
chr22:35481461	allele_ref	A
chr22:35481461	allele_alt	C
chr22:35481461	seqdb_ref	A
chr22:35481461	snp_fw_seq3	CAT/CCT
chr22:35481461	snp_rv_seq3	ATG/AGG
chr22:35481461	func	silent
chr22:35481461	transcript	NM_001008494
chr22:35481461	genomic	.
chr22:35481461	codon	.
chr22:35481461	protein	.
chr22:35481461	worst	silent
chr22:35481461	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35481461	nvar	1
chr22:35481461	var	chr22:35481461:A/C
chr22:35481661	allele_ref	G
chr22:35481661	allele_alt	T
chr22:35481661	seqdb_ref	G
chr22:35481661	snp_fw_seq3	GGC/GTC
chr22:35481661	snp_rv_seq3	GCC/GAC
chr22:35481661	func	missense
chr22:35481661	transcript	NM_001008494
chr22:35481661	genomic	g.713G>T
chr22:35481661	codon	c.713GGC>GTC
chr22:35481661	protein	p.238G>V
chr22:35481661	worst	missense
chr22:35481661	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35481661	nvar	1
chr22:35481661	var	chr22:35481661:G/T
chr22:35659770	allele_ref	A
chr22:35659770	allele_alt	G
chr22:35659770	seqdb_ref	A
chr22:35659770	snp_fw_seq3	CAA/CGA
chr22:35659770	snp_rv_seq3	TTG/TCG
chr22:35659770	func	intronic,intronic
chr22:35659770	transcript	NM_001003681,NR_027780
chr22:35659770	genomic	.,.
chr22:35659770	codon	.,.
chr22:35659770	protein	.,.
chr22:35659770	worst	intronic
chr22:35659770	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35659770	nvar	1
chr22:35659770	var	chr22:35659770:A/G
chr22:35660605	allele_ref	C
chr22:35660605	allele_alt	A
chr22:35660605	seqdb_ref	C
chr22:35660605	snp_fw_seq3	CCA/CAA
chr22:35660605	snp_rv_seq3	TGG/TTG
chr22:35660605	func	intronic,intronic
chr22:35660605	transcript	NM_001003681,NR_027780
chr22:35660605	genomic	.,.
chr22:35660605	codon	.,.
chr22:35660605	protein	.,.
chr22:35660605	worst	intronic
chr22:35660605	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35660605	nvar	1
chr22:35660605	var	chr22:35660605:C/A
chr22:35679951	allele_ref	T
chr22:35679951	allele_alt	C
chr22:35679951	seqdb_ref	T
chr22:35679951	snp_fw_seq3	ATT/ACT
chr22:35679951	snp_rv_seq3	AAT/AGT
chr22:35679951	func	intronic,splice,intronic,splice
chr22:35679951	annot_details	DIST=-4,NMD=0,OFPTV=1,EXIN=6,ISEQ=CATTAG,ESEQ=CCAAAA,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS6+-4T>C,DIST=-4,NMD=0,OFPTV=0,EXIN=7,ISEQ=CATTAG,ESEQ=CCAAAA,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS7+-4T>C
chr22:35679951	transcript	NM_001003681,NM_001003681,NR_027780,NR_027780
chr22:35679951	genomic	.,.,.,.
chr22:35679951	codon	.,.,.,.
chr22:35679951	protein	.,.,.,.
chr22:35679951	worst	splice
chr22:35679951	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35679951	nvar	1
chr22:35679951	var	chr22:35679951:T/C
chr22:35713931	allele_ref	C
chr22:35713931	allele_alt	T
chr22:35713931	seqdb_ref	C
chr22:35713931	snp_fw_seq3	ACA/ATA
chr22:35713931	snp_rv_seq3	TGT/TAT
chr22:35713931	func	silent,silent,silent,silent,npcRNA,npcRNA
chr22:35713931	transcript	NM_001135729,NM_001135730,NM_001135732,NM_005488,NR_024194,NR_024195
chr22:35713931	genomic	.,.,.,.,.,.
chr22:35713931	codon	.,.,.,.,.,.
chr22:35713931	protein	.,.,.,.,.,.
chr22:35713931	worst	silent
chr22:35713931	class	mixed,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:35713931	nvar	1
chr22:35713931	var	chr22:35713931:C/T
chr22:35714004	allele_ref	C
chr22:35714004	allele_alt	T
chr22:35714004	seqdb_ref	C
chr22:35714004	snp_fw_seq3	ACG/ATG
chr22:35714004	snp_rv_seq3	CGT/CAT
chr22:35714004	func	intronic,intronic,intronic,intronic,intronic,intronic
chr22:35714004	transcript	NM_001135729,NM_001135730,NM_001135732,NM_005488,NR_024194,NR_024195
chr22:35714004	genomic	.,.,.,.,.,.
chr22:35714004	codon	.,.,.,.,.,.
chr22:35714004	protein	.,.,.,.,.,.
chr22:35714004	worst	intronic
chr22:35714004	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=6,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35714004	nvar	1
chr22:35714004	var	chr22:35714004:C/T
chr22:35717915	allele_ref	C
chr22:35717915	allele_alt	G
chr22:35717915	seqdb_ref	C
chr22:35717915	snp_fw_seq3	TCT/TGT
chr22:35717915	snp_rv_seq3	AGA/ACA
chr22:35717915	func	intronic,intronic,intronic,intronic,intronic,intronic
chr22:35717915	transcript	NM_001135729,NM_001135730,NM_001135732,NM_005488,NR_024194,NR_024195
chr22:35717915	genomic	.,.,.,.,.,.
chr22:35717915	codon	.,.,.,.,.,.
chr22:35717915	protein	.,.,.,.,.,.
chr22:35717915	worst	intronic
chr22:35717915	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=6,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35717915	nvar	1
chr22:35717915	var	chr22:35717915:C/G
chr22:35723245	allele_ref	G
chr22:35723245	allele_alt	A
chr22:35723245	seqdb_ref	G
chr22:35723245	snp_fw_seq3	CGA/CAA
chr22:35723245	snp_rv_seq3	TCG/TTG
chr22:35723245	func	intronic,intronic,intronic,intronic,intronic,intronic
chr22:35723245	transcript	NM_001135729,NM_001135730,NM_001135732,NM_005488,NR_024194,NR_024195
chr22:35723245	genomic	.,.,.,.,.,.
chr22:35723245	codon	.,.,.,.,.,.
chr22:35723245	protein	.,.,.,.,.,.
chr22:35723245	worst	intronic
chr22:35723245	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=6,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35723245	nvar	1
chr22:35723245	var	chr22:35723245:G/A
chr22:35723351	allele_ref	G
chr22:35723351	allele_alt	T
chr22:35723351	seqdb_ref	G
chr22:35723351	snp_fw_seq3	GGC/GTC
chr22:35723351	snp_rv_seq3	GCC/GAC
chr22:35723351	func	missense,missense,missense,missense,npcRNA,npcRNA
chr22:35723351	transcript	NM_001135729,NM_001135730,NM_001135732,NM_005488,NR_024194,NR_024195
chr22:35723351	genomic	g.637G>T,g.601G>T,g.736G>T,g.736G>T,.,.
chr22:35723351	codon	c.637GCC>TCC,c.601GCC>TCC,c.736GCC>TCC,c.736GCC>TCC,.,.
chr22:35723351	protein	p.213A>S,p.201A>S,p.246A>S,p.246A>S,.,.
chr22:35723351	worst	missense
chr22:35723351	class	mixed,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:35723351	nvar	1
chr22:35723351	var	chr22:35723351:G/T
chr22:35741733	allele_ref	G
chr22:35741733	allele_alt	C
chr22:35741733	seqdb_ref	G
chr22:35741733	snp_fw_seq3	GGC/GCC
chr22:35741733	snp_rv_seq3	GCC/GGC
chr22:35741733	func	missense,missense,missense,missense,npcRNA,npcRNA
chr22:35741733	transcript	NM_001135729,NM_001135730,NM_001135732,NM_005488,NR_024194,NR_024195
chr22:35741733	genomic	g.1141G>C,g.1105G>C,g.1240G>C,g.1240G>C,.,.
chr22:35741733	codon	c.1141GCC>CCC,c.1105GCC>CCC,c.1240GCC>CCC,c.1240GCC>CCC,.,.
chr22:35741733	protein	p.381A>P,p.369A>P,p.414A>P,p.414A>P,.,.
chr22:35741733	worst	missense
chr22:35741733	class	mixed,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:35741733	nvar	1
chr22:35741733	var	chr22:35741733:G/C
chr22:35741820	allele_ref	G
chr22:35741820	allele_alt	A
chr22:35741820	seqdb_ref	G
chr22:35741820	snp_fw_seq3	CGT/CAT
chr22:35741820	snp_rv_seq3	ACG/ATG
chr22:35741820	func	intronic,intronic,intronic,intronic,intronic,intronic
chr22:35741820	transcript	NM_001135729,NM_001135730,NM_001135732,NM_005488,NR_024194,NR_024195
chr22:35741820	genomic	.,.,.,.,.,.
chr22:35741820	codon	.,.,.,.,.,.
chr22:35741820	protein	.,.,.,.,.,.
chr22:35741820	worst	intronic
chr22:35741820	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=6,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35741820	nvar	1
chr22:35741820	var	chr22:35741820:G/A
chr22:35742925	allele_ref	T
chr22:35742925	allele_alt	G
chr22:35742925	seqdb_ref	T
chr22:35742925	snp_fw_seq3	GTA/GGA
chr22:35742925	snp_rv_seq3	TAC/TCC
chr22:35742925	func	silent,splice,silent,splice,silent,splice,silent,splice,npcRNA,splice,npcRNA,splice
chr22:35742925	annot_details	DIST=2,NMD=0,OFPTV=0,EXIN=14,ISEQ=TCCCAG,ESEQ=GGTAAT,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS14+2T>G,DIST=2,NMD=0,OFPTV=1,EXIN=13,ISEQ=TCCCAG,ESEQ=GGTAAT,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS13+2T>G,DIST=2,NMD=0,OFPTV=1,EXIN=14,ISEQ=TCCCAG,ESEQ=GGTAAT,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS14+2T>G,DIST=2,NMD=0,OFPTV=1,EXIN=14,ISEQ=TCCCAG,ESEQ=GGTAAT,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS14+2T>G,DIST=2,NMD=0,OFPTV=0,EXIN=14,ISEQ=TCCCAG,ESEQ=GGTAAT,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS14+2T>G,DIST=2,NMD=0,OFPTV=1,EXIN=13,ISEQ=TCCCAG,ESEQ=GGTAAT,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS13+2T>G
chr22:35742925	transcript	NM_001135729,NM_001135729,NM_001135730,NM_001135730,NM_001135732,NM_001135732,NM_005488,NM_005488,NR_024194,NR_024194,NR_024195,NR_024195
chr22:35742925	genomic	.,.,.,.,.,.,.,.,.,.,.,.
chr22:35742925	codon	.,.,.,.,.,.,.,.,.,.,.,.
chr22:35742925	protein	.,.,.,.,.,.,.,.,.,.,.,.
chr22:35742925	worst	splice
chr22:35742925	class	mixed,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=6,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:35742925	nvar	1
chr22:35742925	var	chr22:35742925:T/G
chr22:35742933	allele_ref	C
chr22:35742933	allele_alt	T
chr22:35742933	seqdb_ref	C
chr22:35742933	snp_fw_seq3	GCG/GTG
chr22:35742933	snp_rv_seq3	CGC/CAC
chr22:35742933	func	missense,missense,missense,missense,npcRNA,npcRNA
chr22:35742933	transcript	NM_001135729,NM_001135730,NM_001135732,NM_005488,NR_024194,NR_024195
chr22:35742933	genomic	g.1196C>T,g.1160C>T,g.1295C>T,g.1295C>T,.,.
chr22:35742933	codon	c.1196GCG>GTG,c.1160GCG>GTG,c.1295GCG>GTG,c.1295GCG>GTG,.,.
chr22:35742933	protein	p.399A>V,p.387A>V,p.432A>V,p.432A>V,.,.
chr22:35742933	worst	missense
chr22:35742933	class	mixed,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:35742933	nvar	1
chr22:35742933	var	chr22:35742933:C/T
chr22:35743124	allele_ref	G
chr22:35743124	allele_alt	C
chr22:35743124	seqdb_ref	G
chr22:35743124	snp_fw_seq3	GGC/GCC
chr22:35743124	snp_rv_seq3	GCC/GGC
chr22:35743124	func	silent,silent,silent,silent,npcRNA,npcRNA
chr22:35743124	transcript	NM_001135729,NM_001135730,NM_001135732,NM_005488,NR_024194,NR_024195
chr22:35743124	genomic	.,.,.,.,.,.
chr22:35743124	codon	.,.,.,.,.,.
chr22:35743124	protein	.,.,.,.,.,.
chr22:35743124	worst	silent
chr22:35743124	class	mixed,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=2
chr22:35743124	nvar	1
chr22:35743124	var	chr22:35743124:G/C
chr22:35779223	allele_ref	T
chr22:35779223	allele_alt	C
chr22:35779223	seqdb_ref	T
chr22:35779223	snp_fw_seq3	ATG/ACG
chr22:35779223	snp_rv_seq3	CAT/CGT
chr22:35779223	func	intronic,splice
chr22:35779223	annot_details	DIST=4,NMD=0,OFPTV=0,EXIN=2,ISEQ=GTATGT,ESEQ=TTCAAG,SPLICE_TYPE=donor,ALT=C,HGVS=c.IVS2+4T>C
chr22:35779223	transcript	NM_002133,NM_002133
chr22:35779223	genomic	.,.
chr22:35779223	codon	.,.
chr22:35779223	protein	.,.
chr22:35779223	worst	splice
chr22:35779223	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35779223	nvar	1
chr22:35779223	var	chr22:35779223:T/C
chr22:35782659	allele_ref	C
chr22:35782659	allele_alt	T
chr22:35782659	seqdb_ref	C
chr22:35782659	snp_fw_seq3	CCT/CTT
chr22:35782659	snp_rv_seq3	AGG/AAG
chr22:35782659	func	intronic
chr22:35782659	transcript	NM_002133
chr22:35782659	genomic	.
chr22:35782659	codon	.
chr22:35782659	protein	.
chr22:35782659	worst	intronic
chr22:35782659	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35782659	nvar	1
chr22:35782659	var	chr22:35782659:C/T
chr22:35783136	allele_ref	A
chr22:35783136	allele_alt	G
chr22:35783136	seqdb_ref	A
chr22:35783136	snp_fw_seq3	AAG/AGG
chr22:35783136	snp_rv_seq3	CTT/CCT
chr22:35783136	func	silent
chr22:35783136	transcript	NM_002133
chr22:35783136	genomic	.
chr22:35783136	codon	.
chr22:35783136	protein	.
chr22:35783136	worst	silent
chr22:35783136	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35783136	nvar	1
chr22:35783136	var	chr22:35783136:A/G
chr22:35799542	allele_ref	C
chr22:35799542	allele_alt	T
chr22:35799542	seqdb_ref	C
chr22:35799542	snp_fw_seq3	TCg/TTg
chr22:35799542	snp_rv_seq3	cGA/cAA
chr22:35799542	func	intronic
chr22:35799542	transcript	NM_006739
chr22:35799542	genomic	.
chr22:35799542	codon	.
chr22:35799542	protein	.
chr22:35799542	worst	intronic
chr22:35799542	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35799542	nvar	1
chr22:35799542	var	chr22:35799542:C/T
chr22:35802661	allele_ref	C
chr22:35802661	allele_alt	G
chr22:35802661	seqdb_ref	C
chr22:35802661	snp_fw_seq3	ACC/AGC
chr22:35802661	snp_rv_seq3	GGT/GCT
chr22:35802661	func	missense
chr22:35802661	transcript	NM_006739
chr22:35802661	genomic	g.539C>G
chr22:35802661	codon	c.539ACC>AGC
chr22:35802661	protein	p.180T>S
chr22:35802661	worst	missense
chr22:35802661	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35802661	nvar	1
chr22:35802661	var	chr22:35802661:C/G
chr22:35806700	allele_ref	C
chr22:35806700	allele_alt	T
chr22:35806700	seqdb_ref	C
chr22:35806700	snp_fw_seq3	TCT/TTT
chr22:35806700	snp_rv_seq3	AGA/AAA
chr22:35806700	func	intronic
chr22:35806700	transcript	NM_006739
chr22:35806700	genomic	.
chr22:35806700	codon	.
chr22:35806700	protein	.
chr22:35806700	worst	intronic
chr22:35806700	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35806700	nvar	1
chr22:35806700	var	chr22:35806700:C/T
chr22:35806815	allele_ref	T
chr22:35806815	allele_alt	C
chr22:35806815	seqdb_ref	T
chr22:35806815	snp_fw_seq3	CTA/CCA
chr22:35806815	snp_rv_seq3	TAG/TGG
chr22:35806815	func	silent
chr22:35806815	transcript	NM_006739
chr22:35806815	genomic	.
chr22:35806815	codon	.
chr22:35806815	protein	.
chr22:35806815	worst	silent
chr22:35806815	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35806815	nvar	1
chr22:35806815	var	chr22:35806815:T/C
chr22:35808708	allele_ref	C
chr22:35808708	allele_alt	T
chr22:35808708	seqdb_ref	C
chr22:35808708	snp_fw_seq3	GCG/GTG
chr22:35808708	snp_rv_seq3	CGC/CAC
chr22:35808708	func	intronic
chr22:35808708	transcript	NM_006739
chr22:35808708	genomic	.
chr22:35808708	codon	.
chr22:35808708	protein	.
chr22:35808708	worst	intronic
chr22:35808708	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35808708	nvar	1
chr22:35808708	var	chr22:35808708:C/T
chr22:35810001	allele_ref	T
chr22:35810001	allele_alt	C
chr22:35810001	seqdb_ref	T
chr22:35810001	snp_fw_seq3	TTG/TCG
chr22:35810001	snp_rv_seq3	CAA/CGA
chr22:35810001	func	intronic
chr22:35810001	transcript	NM_006739
chr22:35810001	genomic	.
chr22:35810001	codon	.
chr22:35810001	protein	.
chr22:35810001	worst	intronic
chr22:35810001	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35810001	nvar	1
chr22:35810001	var	chr22:35810001:T/C
chr22:35810013	allele_ref	T
chr22:35810013	allele_alt	C
chr22:35810013	seqdb_ref	T
chr22:35810013	snp_fw_seq3	CTT/CCT
chr22:35810013	snp_rv_seq3	AAG/AGG
chr22:35810013	func	intronic
chr22:35810013	transcript	NM_006739
chr22:35810013	genomic	.
chr22:35810013	codon	.
chr22:35810013	protein	.
chr22:35810013	worst	intronic
chr22:35810013	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35810013	nvar	1
chr22:35810013	var	chr22:35810013:T/C
chr22:35812004	allele_ref	G
chr22:35812004	allele_alt	A
chr22:35812004	seqdb_ref	G
chr22:35812004	snp_fw_seq3	TGG/TAG
chr22:35812004	snp_rv_seq3	CCA/CTA
chr22:35812004	func	intronic
chr22:35812004	transcript	NM_006739
chr22:35812004	genomic	.
chr22:35812004	codon	.
chr22:35812004	protein	.
chr22:35812004	worst	intronic
chr22:35812004	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35812004	nvar	1
chr22:35812004	var	chr22:35812004:G/A
chr22:35812389	allele_ref	A
chr22:35812389	allele_alt	G
chr22:35812389	seqdb_ref	A
chr22:35812389	snp_fw_seq3	TAT/TGT
chr22:35812389	snp_rv_seq3	ATA/ACA
chr22:35812389	func	missense
chr22:35812389	transcript	NM_006739
chr22:35812389	genomic	g.1405A>G
chr22:35812389	codon	c.1405ATC>GTC
chr22:35812389	protein	p.469I>V
chr22:35812389	worst	missense
chr22:35812389	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35812389	nvar	1
chr22:35812389	var	chr22:35812389:A/G
chr22:35812441	allele_ref	G
chr22:35812441	allele_alt	C
chr22:35812441	seqdb_ref	G
chr22:35812441	snp_fw_seq3	CGT/CCT
chr22:35812441	snp_rv_seq3	ACG/AGG
chr22:35812441	func	intronic
chr22:35812441	transcript	NM_006739
chr22:35812441	genomic	.
chr22:35812441	codon	.
chr22:35812441	protein	.
chr22:35812441	worst	intronic
chr22:35812441	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35812441	nvar	1
chr22:35812441	var	chr22:35812441:G/C
chr22:35815852	allele_ref	C
chr22:35815852	allele_alt	T
chr22:35815852	seqdb_ref	C
chr22:35815852	snp_fw_seq3	ACC/ATC
chr22:35815852	snp_rv_seq3	GGT/GAT
chr22:35815852	func	intronic
chr22:35815852	transcript	NM_006739
chr22:35815852	genomic	.
chr22:35815852	codon	.
chr22:35815852	protein	.
chr22:35815852	worst	intronic
chr22:35815852	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35815852	nvar	1
chr22:35815852	var	chr22:35815852:C/T
chr22:35815880	allele_ref	G
chr22:35815880	allele_alt	A
chr22:35815880	seqdb_ref	G
chr22:35815880	snp_fw_seq3	AGT/AAT
chr22:35815880	snp_rv_seq3	ACT/ATT
chr22:35815880	func	silent,splice
chr22:35815880	annot_details	DIST=3,NMD=0,OFPTV=0,EXIN=14,ISEQ=CTGCAG,ESEQ=GAAGTG,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS14+3G>A
chr22:35815880	transcript	NM_006739,NM_006739
chr22:35815880	genomic	.,.
chr22:35815880	codon	.,.
chr22:35815880	protein	.,.
chr22:35815880	worst	splice
chr22:35815880	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35815880	nvar	1
chr22:35815880	var	chr22:35815880:G/A
chr22:35817471	allele_ref	C
chr22:35817471	allele_alt	A
chr22:35817471	seqdb_ref	C
chr22:35817471	snp_fw_seq3	GCC/GAC
chr22:35817471	snp_rv_seq3	GGC/GTC
chr22:35817471	func	intronic
chr22:35817471	transcript	NM_006739
chr22:35817471	genomic	.
chr22:35817471	codon	.
chr22:35817471	protein	.
chr22:35817471	worst	intronic
chr22:35817471	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35817471	nvar	1
chr22:35817471	var	chr22:35817471:C/A
chr22:35819180	allele_ref	G
chr22:35819180	allele_alt	A
chr22:35819180	seqdb_ref	G
chr22:35819180	snp_fw_seq3	CGG/CAG
chr22:35819180	snp_rv_seq3	CCG/CTG
chr22:35819180	func	intronic
chr22:35819180	transcript	NM_006739
chr22:35819180	genomic	.
chr22:35819180	codon	.
chr22:35819180	protein	.
chr22:35819180	worst	intronic
chr22:35819180	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35819180	nvar	1
chr22:35819180	var	chr22:35819180:G/A
chr22:35819310	allele_ref	C
chr22:35819310	allele_alt	T
chr22:35819310	seqdb_ref	C
chr22:35819310	snp_fw_seq3	GCA/GTA
chr22:35819310	snp_rv_seq3	TGC/TAC
chr22:35819310	func	silent
chr22:35819310	transcript	NM_006739
chr22:35819310	genomic	.
chr22:35819310	codon	.
chr22:35819310	protein	.
chr22:35819310	worst	silent
chr22:35819310	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35819310	nvar	1
chr22:35819310	var	chr22:35819310:C/T
chr22:35820254	allele_ref	G
chr22:35820254	allele_alt	A
chr22:35820254	seqdb_ref	G
chr22:35820254	snp_fw_seq3	CGC/CAC
chr22:35820254	snp_rv_seq3	GCG/GTG
chr22:35820254	func	3-UTR
chr22:35820254	transcript	NM_006739
chr22:35820254	genomic	.
chr22:35820254	codon	.
chr22:35820254	protein	.
chr22:35820254	worst	UTR3
chr22:35820254	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:35820254	nvar	1
chr22:35820254	var	chr22:35820254:G/A
chr22:35947585	allele_ref	C
chr22:35947585	allele_alt	A
chr22:35947585	seqdb_ref	C
chr22:35947585	snp_fw_seq3	CCG/CAG
chr22:35947585	snp_rv_seq3	CGG/CTG
chr22:35947585	func	silent
chr22:35947585	transcript	NM_014310
chr22:35947585	genomic	.
chr22:35947585	codon	.
chr22:35947585	protein	.
chr22:35947585	worst	silent
chr22:35947585	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:35947585	nvar	1
chr22:35947585	var	chr22:35947585:C/A
chr22:36007045	allele_ref	G
chr22:36007045	allele_alt	A
chr22:36007045	seqdb_ref	G
chr22:36007045	snp_fw_seq3	CGG/CAG
chr22:36007045	snp_rv_seq3	CCG/CTG
chr22:36007045	func	silent,silent,silent
chr22:36007045	transcript	NM_005368,NM_203377,NM_203378
chr22:36007045	genomic	.,.,.
chr22:36007045	codon	.,.,.
chr22:36007045	protein	.,.,.
chr22:36007045	worst	silent
chr22:36007045	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36007045	nvar	1
chr22:36007045	var	chr22:36007045:G/A
chr22:36007075	allele_ref	C
chr22:36007075	allele_alt	T
chr22:36007075	seqdb_ref	C
chr22:36007075	snp_fw_seq3	ACG/ATG
chr22:36007075	snp_rv_seq3	CGT/CAT
chr22:36007075	func	silent,silent,silent
chr22:36007075	transcript	NM_005368,NM_203377,NM_203378
chr22:36007075	genomic	.,.,.
chr22:36007075	codon	.,.,.
chr22:36007075	protein	.,.,.
chr22:36007075	worst	silent
chr22:36007075	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36007075	nvar	1
chr22:36007075	var	chr22:36007075:C/T
chr22:36013312	allele_ref	T
chr22:36013312	allele_alt	A
chr22:36013312	seqdb_ref	T
chr22:36013312	snp_fw_seq3	GTC/GAC
chr22:36013312	snp_rv_seq3	GAC/GTC
chr22:36013312	func	5-UTR,5-UTR,splice,5-UTR,splice
chr22:36013312	annot_details	DIST=0,NMD=0,OFPTV=1,EXIN=2,ISEQ=GACTTC,ESEQ=GCGTCA,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS2+0A>T,DIST=0,NMD=0,OFPTV=1,EXIN=2,ISEQ=GACTTC,ESEQ=GCGTCA,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS2+0A>T
chr22:36013312	transcript	NM_005368,NM_203377,NM_203377,NM_203378,NM_203378
chr22:36013312	genomic	.,.,.,.,.
chr22:36013312	codon	.,.,.,.,.
chr22:36013312	protein	.,.,.,.,.
chr22:36013312	worst	splice
chr22:36013312	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=3,UTR3=0,npcRNA=0
chr22:36013312	nvar	1
chr22:36013312	var	chr22:36013312:T/A
chr22:36054741	allele_ref	A
chr22:36054741	allele_alt	G
chr22:36054741	seqdb_ref	A
chr22:36054741	snp_fw_seq3	GAG/GGG
chr22:36054741	snp_rv_seq3	CTC/CCC
chr22:36054741	func	missense
chr22:36054741	transcript	NM_030641
chr22:36054741	genomic	g.130A>G
chr22:36054741	codon	c.130AGA>GGA
chr22:36054741	protein	p.44R>G
chr22:36054741	worst	missense
chr22:36054741	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36054741	nvar	1
chr22:36054741	var	chr22:36054741:A/G
chr22:36055130	allele_ref	T
chr22:36055130	allele_alt	A
chr22:36055130	seqdb_ref	T
chr22:36055130	snp_fw_seq3	ATC/AAC
chr22:36055130	snp_rv_seq3	GAT/GTT
chr22:36055130	func	missense
chr22:36055130	transcript	NM_030641
chr22:36055130	genomic	g.519T>A
chr22:36055130	codon	c.519AAT>AAA
chr22:36055130	protein	p.173N>K
chr22:36055130	worst	missense
chr22:36055130	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36055130	nvar	1
chr22:36055130	var	chr22:36055130:T/A
chr22:36055428	allele_ref	G
chr22:36055428	allele_alt	A
chr22:36055428	seqdb_ref	G
chr22:36055428	snp_fw_seq3	AGC/AAC
chr22:36055428	snp_rv_seq3	GCT/GTT
chr22:36055428	func	missense
chr22:36055428	transcript	NM_030641
chr22:36055428	genomic	g.817G>A
chr22:36055428	codon	c.817GCC>ACC
chr22:36055428	protein	p.273A>T
chr22:36055428	worst	missense
chr22:36055428	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36055428	nvar	1
chr22:36055428	var	chr22:36055428:G/A
chr22:36116593	allele_ref	C
chr22:36116593	allele_alt	T
chr22:36116593	seqdb_ref	C
chr22:36116593	snp_fw_seq3	CCC/CTC
chr22:36116593	snp_rv_seq3	GGG/GAG
chr22:36116593	func	intronic
chr22:36116593	transcript	NM_030642
chr22:36116593	genomic	.
chr22:36116593	codon	.
chr22:36116593	protein	.
chr22:36116593	worst	intronic
chr22:36116593	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36116593	nvar	1
chr22:36116593	var	chr22:36116593:C/T
chr22:36122356	allele_ref	G
chr22:36122356	allele_alt	A
chr22:36122356	seqdb_ref	G
chr22:36122356	snp_fw_seq3	AGA/AAA
chr22:36122356	snp_rv_seq3	TCT/TTT
chr22:36122356	func	missense
chr22:36122356	transcript	NM_030642
chr22:36122356	genomic	g.241G>A
chr22:36122356	codon	c.241GAG>AAG
chr22:36122356	protein	p.81E>K
chr22:36122356	worst	missense
chr22:36122356	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36122356	nvar	1
chr22:36122356	var	chr22:36122356:G/A
chr22:36122380	allele_ref	T
chr22:36122380	allele_alt	A
chr22:36122380	seqdb_ref	T
chr22:36122380	snp_fw_seq3	TTC/TAC
chr22:36122380	snp_rv_seq3	GAA/GTA
chr22:36122380	func	missense
chr22:36122380	transcript	NM_030642
chr22:36122380	genomic	g.265T>A
chr22:36122380	codon	c.265TCC>ACC
chr22:36122380	protein	p.89S>T
chr22:36122380	worst	missense
chr22:36122380	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36122380	nvar	1
chr22:36122380	var	chr22:36122380:T/A
chr22:36122433	allele_ref	T
chr22:36122433	allele_alt	C
chr22:36122433	seqdb_ref	T
chr22:36122433	snp_fw_seq3	TTC/TCC
chr22:36122433	snp_rv_seq3	GAA/GGA
chr22:36122433	func	silent
chr22:36122433	transcript	NM_030642
chr22:36122433	genomic	.
chr22:36122433	codon	.
chr22:36122433	protein	.
chr22:36122433	worst	silent
chr22:36122433	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36122433	nvar	1
chr22:36122433	var	chr22:36122433:T/C
chr22:36122517	allele_ref	T
chr22:36122517	allele_alt	C
chr22:36122517	seqdb_ref	T
chr22:36122517	snp_fw_seq3	TTA/TCA
chr22:36122517	snp_rv_seq3	TAA/TGA
chr22:36122517	func	silent
chr22:36122517	transcript	NM_030642
chr22:36122517	genomic	.
chr22:36122517	codon	.
chr22:36122517	protein	.
chr22:36122517	worst	silent
chr22:36122517	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36122517	nvar	1
chr22:36122517	var	chr22:36122517:T/C
chr22:36122811	allele_ref	G
chr22:36122811	allele_alt	A
chr22:36122811	seqdb_ref	G
chr22:36122811	snp_fw_seq3	AGT/AAT
chr22:36122811	snp_rv_seq3	ACT/ATT
chr22:36122811	func	silent
chr22:36122811	transcript	NM_030642
chr22:36122811	genomic	.
chr22:36122811	codon	.
chr22:36122811	protein	.
chr22:36122811	worst	silent
chr22:36122811	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36122811	nvar	1
chr22:36122811	var	chr22:36122811:G/A
chr22:36122930	allele_ref	C
chr22:36122930	allele_alt	T
chr22:36122930	seqdb_ref	C
chr22:36122930	snp_fw_seq3	ACG/ATG
chr22:36122930	snp_rv_seq3	CGT/CAT
chr22:36122930	func	missense
chr22:36122930	transcript	NM_030642
chr22:36122930	genomic	g.815C>T
chr22:36122930	codon	c.815ACG>ATG
chr22:36122930	protein	p.272T>M
chr22:36122930	worst	missense
chr22:36122930	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36122930	nvar	1
chr22:36122930	var	chr22:36122930:C/T
chr22:36123083	allele_ref	C
chr22:36123083	allele_alt	T
chr22:36123083	seqdb_ref	C
chr22:36123083	snp_fw_seq3	ACG/ATG
chr22:36123083	snp_rv_seq3	CGT/CAT
chr22:36123083	func	missense
chr22:36123083	transcript	NM_030642
chr22:36123083	genomic	g.968C>T
chr22:36123083	codon	c.968ACG>ATG
chr22:36123083	protein	p.323T>M
chr22:36123083	worst	missense
chr22:36123083	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36123083	nvar	1
chr22:36123083	var	chr22:36123083:C/T
chr22:36124860	allele_ref	C
chr22:36124860	allele_alt	G
chr22:36124860	seqdb_ref	C
chr22:36124860	snp_fw_seq3	TCT/TGT
chr22:36124860	snp_rv_seq3	AGA/ACA
chr22:36124860	func	missense
chr22:36124860	transcript	NM_030642
chr22:36124860	genomic	g.1217C>G
chr22:36124860	codon	c.1217TCT>TGT
chr22:36124860	protein	p.406S>C
chr22:36124860	worst	missense
chr22:36124860	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36124860	nvar	1
chr22:36124860	var	chr22:36124860:C/G
chr22:36141926	allele_ref	G
chr22:36141926	allele_alt	A
chr22:36141926	seqdb_ref	G
chr22:36141926	snp_fw_seq3	AGG/AAG
chr22:36141926	snp_rv_seq3	CCT/CTT
chr22:36141926	func	intronic,intronic,intronic,intronic,intronic,intronic
chr22:36141926	transcript	NM_001031695,NM_001082576,NM_001082577,NM_001082578,NM_001082579,NM_014309
chr22:36141926	genomic	.,.,.,.,.,.
chr22:36141926	codon	.,.,.,.,.,.
chr22:36141926	protein	.,.,.,.,.,.
chr22:36141926	worst	intronic
chr22:36141926	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=6,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36141926	nvar	1
chr22:36141926	var	chr22:36141926:G/A
chr22:36164434	allele_ref	C
chr22:36164434	allele_alt	T
chr22:36164434	seqdb_ref	C
chr22:36164434	snp_fw_seq3	TCG/TTG
chr22:36164434	snp_rv_seq3	CGA/CAA
chr22:36164434	func	intronic,intronic,intronic,intronic,intronic,intronic
chr22:36164434	transcript	NM_001031695,NM_001082576,NM_001082577,NM_001082578,NM_001082579,NM_014309
chr22:36164434	genomic	.,.,.,.,.,.
chr22:36164434	codon	.,.,.,.,.,.
chr22:36164434	protein	.,.,.,.,.,.
chr22:36164434	worst	intronic
chr22:36164434	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=6,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36164434	nvar	1
chr22:36164434	var	chr22:36164434:C/T
chr22:36424247	allele_ref	C
chr22:36424247	allele_alt	G
chr22:36424247	seqdb_ref	C
chr22:36424247	snp_fw_seq3	CCC/CGC
chr22:36424247	snp_rv_seq3	GGG/GCG
chr22:36424247	func	intronic,intronic
chr22:36424247	transcript	NM_001082578,NM_001082579
chr22:36424247	genomic	.,.
chr22:36424247	codon	.,.
chr22:36424247	protein	.,.
chr22:36424247	worst	intronic
chr22:36424247	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36424247	nvar	1
chr22:36424247	var	chr22:36424247:C/G
chr22:36537222	allele_ref	C
chr22:36537222	allele_alt	G
chr22:36537222	seqdb_ref	C
chr22:36537222	snp_fw_seq3	TCC/TGC
chr22:36537222	snp_rv_seq3	GGA/GCA
chr22:36537222	func	3-UTR,3-UTR,3-UTR,npcRNA,npcRNA,npcRNA
chr22:36537222	transcript	NM_145640,NM_145641,NM_145642,NR_027833,NR_027834,NR_027835
chr22:36537222	genomic	.,.,.,.,.,.
chr22:36537222	codon	.,.,.,.,.,.
chr22:36537222	protein	.,.,.,.,.,.
chr22:36537222	worst	UTR3
chr22:36537222	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=3,npcRNA=3
chr22:36537222	nvar	1
chr22:36537222	var	chr22:36537222:C/G
chr22:36537725	allele_ref	G
chr22:36537725	allele_alt	A
chr22:36537725	seqdb_ref	G
chr22:36537725	snp_fw_seq3	TGT/TAT
chr22:36537725	snp_rv_seq3	ACA/ATA
chr22:36537725	func	silent,silent,silent,npcRNA,npcRNA,npcRNA
chr22:36537725	transcript	NM_145640,NM_145641,NM_145642,NR_027833,NR_027834,NR_027835
chr22:36537725	genomic	.,.,.,.,.,.
chr22:36537725	codon	.,.,.,.,.,.
chr22:36537725	protein	.,.,.,.,.,.
chr22:36537725	worst	silent
chr22:36537725	class	mixed,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=3
chr22:36537725	nvar	1
chr22:36537725	var	chr22:36537725:G/A
chr22:36537740	allele_ref	G
chr22:36537740	allele_alt	A
chr22:36537740	seqdb_ref	G
chr22:36537740	snp_fw_seq3	CGA/CAA
chr22:36537740	snp_rv_seq3	TCG/TTG
chr22:36537740	func	silent,silent,silent,npcRNA,npcRNA,npcRNA
chr22:36537740	transcript	NM_145640,NM_145641,NM_145642,NR_027833,NR_027834,NR_027835
chr22:36537740	genomic	.,.,.,.,.,.
chr22:36537740	codon	.,.,.,.,.,.
chr22:36537740	protein	.,.,.,.,.,.
chr22:36537740	worst	silent
chr22:36537740	class	mixed,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=3
chr22:36537740	nvar	1
chr22:36537740	var	chr22:36537740:G/A
chr22:36538053	allele_ref	G
chr22:36538053	allele_alt	A
chr22:36538053	seqdb_ref	G
chr22:36538053	snp_fw_seq3	AGC/AAC
chr22:36538053	snp_rv_seq3	GCT/GTT
chr22:36538053	func	missense,5-UTR,5-UTR,npcRNA,npcRNA,npcRNA
chr22:36538053	transcript	NM_145640,NM_145641,NM_145642,NR_027833,NR_027834,NR_027835
chr22:36538053	genomic	g.404G>A,.,.,.,.,.
chr22:36538053	codon	c.404GCT>GTT,.,.,.,.,.
chr22:36538053	protein	p.135A>V,.,.,.,.,.
chr22:36538053	worst	missense
chr22:36538053	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=2,UTR3=0,npcRNA=3
chr22:36538053	nvar	1
chr22:36538053	var	chr22:36538053:G/A
chr22:36556698	allele_ref	C
chr22:36556698	allele_alt	T
chr22:36556698	seqdb_ref	C
chr22:36556698	snp_fw_seq3	TCA/TTA
chr22:36556698	snp_rv_seq3	TGA/TAA
chr22:36556698	func	intronic,intronic,intronic,intronic,intronic,intronic
chr22:36556698	transcript	NM_145640,NM_145641,NM_145642,NR_027833,NR_027834,NR_027835
chr22:36556698	genomic	.,.,.,.,.,.
chr22:36556698	codon	.,.,.,.,.,.
chr22:36556698	protein	.,.,.,.,.,.
chr22:36556698	worst	intronic
chr22:36556698	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=6,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36556698	nvar	1
chr22:36556698	var	chr22:36556698:C/T
chr22:36556729	allele_ref	T
chr22:36556729	allele_alt	C
chr22:36556729	seqdb_ref	T
chr22:36556729	snp_fw_seq3	CTC/CCC
chr22:36556729	snp_rv_seq3	GAG/GGG
chr22:36556729	func	missense,5-UTR,5-UTR,npcRNA,npcRNA,npcRNA
chr22:36556729	transcript	NM_145640,NM_145641,NM_145642,NR_027833,NR_027834,NR_027835
chr22:36556729	genomic	g.211T>C,.,.,.,.,.
chr22:36556729	codon	c.211AGA>GGA,.,.,.,.,.
chr22:36556729	protein	p.71R>G,.,.,.,.,.
chr22:36556729	worst	missense
chr22:36556729	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=2,UTR3=0,npcRNA=3
chr22:36556729	nvar	1
chr22:36556729	var	chr22:36556729:T/C
chr22:36556768	allele_ref	G
chr22:36556768	allele_alt	A
chr22:36556768	seqdb_ref	G
chr22:36556768	snp_fw_seq3	TGT/TAT
chr22:36556768	snp_rv_seq3	ACA/ATA
chr22:36556768	func	nonsense,5-UTR,5-UTR,npcRNA,npcRNA,npcRNA
chr22:36556768	annot_details	NMD=1,OFPTV=1,PEPSIZE=403->58,HGVS=p.Q58*
chr22:36556768	transcript	NM_145640,NM_145641,NM_145642,NR_027833,NR_027834,NR_027835
chr22:36556768	genomic	g.172G>A,.,.,.,.,.
chr22:36556768	codon	c.172CAG>TAG,.,.,.,.,.
chr22:36556768	protein	p.58Q>*,.,.,.,.,.
chr22:36556768	worst	nonsense
chr22:36556768	class	mixed,NON=1,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=2,UTR3=0,npcRNA=3
chr22:36556768	nvar	1
chr22:36556768	var	chr22:36556768:G/A
chr22:36556823	allele_ref	G
chr22:36556823	allele_alt	T
chr22:36556823	seqdb_ref	G
chr22:36556823	snp_fw_seq3	GGC/GTC
chr22:36556823	snp_rv_seq3	GCC/GAC
chr22:36556823	func	missense,5-UTR,5-UTR,npcRNA,npcRNA,npcRNA
chr22:36556823	transcript	NM_145640,NM_145641,NM_145642,NR_027833,NR_027834,NR_027835
chr22:36556823	genomic	g.117G>T,.,.,.,.,.
chr22:36556823	codon	c.117AGC>AGA,.,.,.,.,.
chr22:36556823	protein	p.39S>R,.,.,.,.,.
chr22:36556823	worst	missense
chr22:36556823	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=2,UTR3=0,npcRNA=3
chr22:36556823	nvar	1
chr22:36556823	var	chr22:36556823:G/T
chr22:36556964	allele_ref	C
chr22:36556964	allele_alt	T
chr22:36556964	seqdb_ref	C
chr22:36556964	snp_fw_seq3	TCC/TTC
chr22:36556964	snp_rv_seq3	GGA/GAA
chr22:36556964	func	5-UTR,intronic,intronic,npcRNA,npcRNA,npcRNA
chr22:36556964	transcript	NM_145640,NM_145641,NM_145642,NR_027833,NR_027834,NR_027835
chr22:36556964	genomic	.,.,.,.,.,.
chr22:36556964	codon	.,.,.,.,.,.
chr22:36556964	protein	.,.,.,.,.,.
chr22:36556964	worst	UTR5
chr22:36556964	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=3
chr22:36556964	nvar	1
chr22:36556964	var	chr22:36556964:C/T
chr22:36623731	allele_ref	T
chr22:36623731	allele_alt	C
chr22:36623731	seqdb_ref	T
chr22:36623731	snp_fw_seq3	ATA/ACA
chr22:36623731	snp_rv_seq3	TAT/TGT
chr22:36623731	func	missense,missense
chr22:36623731	transcript	NM_030882,NM_145637
chr22:36623731	genomic	g.733T>C,g.733T>C
chr22:36623731	codon	c.733ATC>GTC,c.733ATC>GTC
chr22:36623731	protein	p.245I>V,p.245I>V
chr22:36623731	worst	missense
chr22:36623731	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36623731	nvar	1
chr22:36623731	var	chr22:36623731:T/C
chr22:36623920	allele_ref	G
chr22:36623920	allele_alt	A
chr22:36623920	seqdb_ref	G
chr22:36623920	snp_fw_seq3	CGG/CAG
chr22:36623920	snp_rv_seq3	CCG/CTG
chr22:36623920	func	missense,missense
chr22:36623920	transcript	NM_030882,NM_145637
chr22:36623920	genomic	g.544G>A,g.544G>A
chr22:36623920	codon	c.544CGC>TGC,c.544CGC>TGC
chr22:36623920	protein	p.182R>C,p.182R>C
chr22:36623920	worst	missense
chr22:36623920	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36623920	nvar	1
chr22:36623920	var	chr22:36623920:G/A
chr22:36623980	allele_ref	C
chr22:36623980	allele_alt	T
chr22:36623980	seqdb_ref	C
chr22:36623980	snp_fw_seq3	GCC/GTC
chr22:36623980	snp_rv_seq3	GGC/GAC
chr22:36623980	func	missense,missense
chr22:36623980	transcript	NM_030882,NM_145637
chr22:36623980	genomic	g.484C>T,g.484C>T
chr22:36623980	codon	c.484GCT>ACT,c.484GCT>ACT
chr22:36623980	protein	p.162A>T,p.162A>T
chr22:36623980	worst	missense
chr22:36623980	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36623980	nvar	1
chr22:36623980	var	chr22:36623980:C/T
chr22:36627380	allele_ref	G
chr22:36627380	allele_alt	A
chr22:36627380	seqdb_ref	G
chr22:36627380	snp_fw_seq3	AGC/AAC
chr22:36627380	snp_rv_seq3	GCT/GTT
chr22:36627380	func	intronic,intronic
chr22:36627380	transcript	NM_030882,NM_145637
chr22:36627380	genomic	.,.
chr22:36627380	codon	.,.
chr22:36627380	protein	.,.
chr22:36627380	worst	intronic
chr22:36627380	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36627380	nvar	1
chr22:36627380	var	chr22:36627380:G/A
chr22:36649966	allele_ref	C
chr22:36649966	allele_alt	T
chr22:36649966	seqdb_ref	C
chr22:36649966	snp_fw_seq3	GCG/GTG
chr22:36649966	snp_rv_seq3	CGC/CAC
chr22:36649966	func	intronic,intronic,intronic,5-UTR
chr22:36649966	transcript	NM_001136540,NM_001136541,NM_003661,NM_145343
chr22:36649966	genomic	.,.,.,.
chr22:36649966	codon	.,.,.,.
chr22:36649966	protein	.,.,.,.
chr22:36649966	worst	UTR5
chr22:36649966	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:36649966	nvar	1
chr22:36649966	var	chr22:36649966:C/T
chr22:36650956	allele_ref	G
chr22:36650956	allele_alt	A
chr22:36650956	seqdb_ref	G
chr22:36650956	snp_fw_seq3	TGT/TAT
chr22:36650956	snp_rv_seq3	ACA/ATA
chr22:36650956	func	5-UTR,intronic,intronic,intronic
chr22:36650956	transcript	NM_001136540,NM_001136541,NM_003661,NM_145343
chr22:36650956	genomic	.,.,.,.
chr22:36650956	codon	.,.,.,.
chr22:36650956	protein	.,.,.,.
chr22:36650956	worst	UTR5
chr22:36650956	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:36650956	nvar	1
chr22:36650956	var	chr22:36650956:G/A
chr22:36657596	allele_ref	A
chr22:36657596	allele_alt	G
chr22:36657596	seqdb_ref	A
chr22:36657596	snp_fw_seq3	CAC/CGC
chr22:36657596	snp_rv_seq3	GTG/GCG
chr22:36657596	func	intronic,intronic,intronic,intronic
chr22:36657596	transcript	NM_001136540,NM_001136541,NM_003661,NM_145343
chr22:36657596	genomic	.,.,.,.
chr22:36657596	codon	.,.,.,.
chr22:36657596	protein	.,.,.,.
chr22:36657596	worst	intronic
chr22:36657596	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36657596	nvar	1
chr22:36657596	var	chr22:36657596:A/G
chr22:36657628	allele_ref	T
chr22:36657628	allele_alt	G
chr22:36657628	seqdb_ref	T
chr22:36657628	snp_fw_seq3	CTT/CGT
chr22:36657628	snp_rv_seq3	AAG/ACG
chr22:36657628	func	intronic,intronic,intronic,intronic
chr22:36657628	transcript	NM_001136540,NM_001136541,NM_003661,NM_145343
chr22:36657628	genomic	.,.,.,.
chr22:36657628	codon	.,.,.,.
chr22:36657628	protein	.,.,.,.
chr22:36657628	worst	intronic
chr22:36657628	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36657628	nvar	1
chr22:36657628	var	chr22:36657628:T/G
chr22:36657789	allele_ref	T
chr22:36657789	allele_alt	C
chr22:36657789	seqdb_ref	T
chr22:36657789	snp_fw_seq3	CTC/CCC
chr22:36657789	snp_rv_seq3	GAG/GGG
chr22:36657789	func	intronic,intronic,intronic,intronic
chr22:36657789	transcript	NM_001136540,NM_001136541,NM_003661,NM_145343
chr22:36657789	genomic	.,.,.,.
chr22:36657789	codon	.,.,.,.
chr22:36657789	protein	.,.,.,.
chr22:36657789	worst	intronic
chr22:36657789	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36657789	nvar	1
chr22:36657789	var	chr22:36657789:T/C
chr22:36661149	allele_ref	A
chr22:36661149	allele_alt	G
chr22:36661149	seqdb_ref	a
chr22:36661149	snp_fw_seq3	cac/cGc
chr22:36661149	snp_rv_seq3	gtg/gCg
chr22:36661149	func	intronic,intronic,intronic,intronic
chr22:36661149	transcript	NM_001136540,NM_001136541,NM_003661,NM_145343
chr22:36661149	genomic	.,.,.,.
chr22:36661149	codon	.,.,.,.
chr22:36661149	protein	.,.,.,.
chr22:36661149	worst	intronic
chr22:36661149	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36661149	nvar	1
chr22:36661149	var	chr22:36661149:A/G
chr22:36661152	allele_ref	G
chr22:36661152	allele_alt	A
chr22:36661152	seqdb_ref	g
chr22:36661152	snp_fw_seq3	cga/cAa
chr22:36661152	snp_rv_seq3	tcg/tTg
chr22:36661152	func	intronic,intronic,intronic,intronic
chr22:36661152	transcript	NM_001136540,NM_001136541,NM_003661,NM_145343
chr22:36661152	genomic	.,.,.,.
chr22:36661152	codon	.,.,.,.
chr22:36661152	protein	.,.,.,.
chr22:36661152	worst	intronic
chr22:36661152	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36661152	nvar	1
chr22:36661152	var	chr22:36661152:G/A
chr22:36661200	allele_ref	T
chr22:36661200	allele_alt	C
chr22:36661200	seqdb_ref	T
chr22:36661200	snp_fw_seq3	ATG/ACG
chr22:36661200	snp_rv_seq3	CAT/CGT
chr22:36661200	func	silent,splice,silent,splice,silent,splice,silent,splice
chr22:36661200	annot_details	DIST=3,NMD=0,OFPTV=0,EXIN=6,ISEQ=GTGCAG,ESEQ=GAATGA,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS6+3T>C,DIST=3,NMD=0,OFPTV=0,EXIN=5,ISEQ=GTGCAG,ESEQ=GAATGA,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS5+3T>C,DIST=3,NMD=0,OFPTV=0,EXIN=6,ISEQ=GTGCAG,ESEQ=GAATGA,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS6+3T>C,DIST=3,NMD=0,OFPTV=1,EXIN=7,ISEQ=GTGCAG,ESEQ=GAATGA,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS7+3T>C
chr22:36661200	transcript	NM_001136540,NM_001136540,NM_001136541,NM_001136541,NM_003661,NM_003661,NM_145343,NM_145343
chr22:36661200	genomic	.,.,.,.,.,.,.,.
chr22:36661200	codon	.,.,.,.,.,.,.,.
chr22:36661200	protein	.,.,.,.,.,.,.,.
chr22:36661200	worst	splice
chr22:36661200	class	mixed,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=4,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36661200	nvar	1
chr22:36661200	var	chr22:36661200:T/C
chr22:36661330	allele_ref	G
chr22:36661330	allele_alt	A
chr22:36661330	seqdb_ref	G
chr22:36661330	snp_fw_seq3	TGA/TAA
chr22:36661330	snp_rv_seq3	TCA/TTA
chr22:36661330	func	missense,missense,missense,missense
chr22:36661330	transcript	NM_001136540,NM_001136541,NM_003661,NM_145343
chr22:36661330	genomic	g.448G>A,g.394G>A,g.448G>A,g.496G>A
chr22:36661330	codon	c.448GAG>AAG,c.394GAG>AAG,c.448GAG>AAG,c.496GAG>AAG
chr22:36661330	protein	p.150E>K,p.132E>K,p.150E>K,p.166E>K
chr22:36661330	worst	missense
chr22:36661330	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36661330	nvar	1
chr22:36661330	var	chr22:36661330:G/A
chr22:36661409	allele_ref	A
chr22:36661409	allele_alt	G
chr22:36661409	seqdb_ref	A
chr22:36661409	snp_fw_seq3	AAT/AGT
chr22:36661409	snp_rv_seq3	ATT/ACT
chr22:36661409	func	missense,missense,missense,missense
chr22:36661409	transcript	NM_001136540,NM_001136541,NM_003661,NM_145343
chr22:36661409	genomic	g.527A>G,g.473A>G,g.527A>G,g.575A>G
chr22:36661409	codon	c.527AAT>AGT,c.473AAT>AGT,c.527AAT>AGT,c.575AAT>AGT
chr22:36661409	protein	p.176N>S,p.158N>S,p.176N>S,p.192N>S
chr22:36661409	worst	missense
chr22:36661409	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36661409	nvar	1
chr22:36661409	var	chr22:36661409:A/G
chr22:36661536	allele_ref	C
chr22:36661536	allele_alt	A
chr22:36661536	seqdb_ref	C
chr22:36661536	snp_fw_seq3	CCG/CAG
chr22:36661536	snp_rv_seq3	CGG/CTG
chr22:36661536	func	silent,silent,silent,silent
chr22:36661536	transcript	NM_001136540,NM_001136541,NM_003661,NM_145343
chr22:36661536	genomic	.,.,.,.
chr22:36661536	codon	.,.,.,.
chr22:36661536	protein	.,.,.,.
chr22:36661536	worst	silent
chr22:36661536	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36661536	nvar	1
chr22:36661536	var	chr22:36661536:C/A
chr22:36661566	allele_ref	G
chr22:36661566	allele_alt	A
chr22:36661566	seqdb_ref	G
chr22:36661566	snp_fw_seq3	TGG/TAG
chr22:36661566	snp_rv_seq3	CCA/CTA
chr22:36661566	func	missense,missense,missense,missense
chr22:36661566	transcript	NM_001136540,NM_001136541,NM_003661,NM_145343
chr22:36661566	genomic	g.684G>A,g.630G>A,g.684G>A,g.732G>A
chr22:36661566	codon	c.684ATG>ATA,c.630ATG>ATA,c.684ATG>ATA,c.732ATG>ATA
chr22:36661566	protein	p.228M>I,p.210M>I,p.228M>I,p.244M>I
chr22:36661566	worst	missense
chr22:36661566	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36661566	nvar	1
chr22:36661566	var	chr22:36661566:G/A
chr22:36661646	allele_ref	G
chr22:36661646	allele_alt	A,C
chr22:36661646	seqdb_ref	G
chr22:36661646	func	missense,missense,missense,missense,missense,missense,missense,missense
chr22:36661646	transcript	NM_001136540,NM_001136540,NM_001136541,NM_001136541,NM_003661,NM_003661,NM_145343,NM_145343
chr22:36661646	genomic	g.764G>A,g.764G>C,g.710G>A,g.710G>C,g.764G>A,g.764G>C,g.812G>A,g.812G>C
chr22:36661646	codon	c.764AGG>AAG,c.764AGG>ACG,c.710AGG>AAG,c.710AGG>ACG,c.764AGG>AAG,c.764AGG>ACG,c.812AGG>AAG,c.812AGG>ACG
chr22:36661646	protein	p.255R>K,p.255R>T,p.237R>K,p.237R>T,p.255R>K,p.255R>T,p.271R>K,p.271R>T
chr22:36661646	worst	missense
chr22:36661646	class	missense,NON=0,SL=0,MIS=8,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36661646	nvar	1
chr22:36661646	var	chr22:36661646:G/A,C
chr22:36661674	allele_ref	C
chr22:36661674	allele_alt	A
chr22:36661674	seqdb_ref	C
chr22:36661674	snp_fw_seq3	ACT/AAT
chr22:36661674	snp_rv_seq3	AGT/ATT
chr22:36661674	func	missense,missense,missense,missense
chr22:36661674	transcript	NM_001136540,NM_001136541,NM_003661,NM_145343
chr22:36661674	genomic	g.792C>A,g.738C>A,g.792C>A,g.840C>A
chr22:36661674	codon	c.792AAC>AAA,c.738AAC>AAA,c.792AAC>AAA,c.840AAC>AAA
chr22:36661674	protein	p.264N>K,p.246N>K,p.264N>K,p.280N>K
chr22:36661674	worst	missense
chr22:36661674	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36661674	nvar	1
chr22:36661674	var	chr22:36661674:C/A
chr22:36661842	allele_ref	G
chr22:36661842	allele_alt	A
chr22:36661842	seqdb_ref	G
chr22:36661842	snp_fw_seq3	GGG/GAG
chr22:36661842	snp_rv_seq3	CCC/CTC
chr22:36661842	func	silent,silent,silent,silent
chr22:36661842	transcript	NM_001136540,NM_001136541,NM_003661,NM_145343
chr22:36661842	genomic	.,.,.,.
chr22:36661842	codon	.,.,.,.
chr22:36661842	protein	.,.,.,.
chr22:36661842	worst	silent
chr22:36661842	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36661842	nvar	1
chr22:36661842	var	chr22:36661842:G/A
chr22:36661891	allele_ref	G
chr22:36661891	allele_alt	A
chr22:36661891	seqdb_ref	G
chr22:36661891	snp_fw_seq3	GGA/GAA
chr22:36661891	snp_rv_seq3	TCC/TTC
chr22:36661891	func	missense,missense,missense,missense
chr22:36661891	transcript	NM_001136540,NM_001136541,NM_003661,NM_145343
chr22:36661891	genomic	g.1009G>A,g.955G>A,g.1009G>A,g.1057G>A
chr22:36661891	codon	c.1009GAT>AAT,c.955GAT>AAT,c.1009GAT>AAT,c.1057GAT>AAT
chr22:36661891	protein	p.337D>N,p.319D>N,p.337D>N,p.353D>N
chr22:36661891	worst	missense
chr22:36661891	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36661891	nvar	1
chr22:36661891	var	chr22:36661891:G/A
chr22:36661906	allele_ref	A
chr22:36661906	allele_alt	G
chr22:36661906	seqdb_ref	A
chr22:36661906	snp_fw_seq3	AAG/AGG
chr22:36661906	snp_rv_seq3	CTT/CCT
chr22:36661906	func	missense,missense,missense,missense
chr22:36661906	transcript	NM_001136540,NM_001136541,NM_003661,NM_145343
chr22:36661906	genomic	g.1024A>G,g.970A>G,g.1024A>G,g.1072A>G
chr22:36661906	codon	c.1024AGC>GGC,c.970AGC>GGC,c.1024AGC>GGC,c.1072AGC>GGC
chr22:36661906	protein	p.342S>G,p.324S>G,p.342S>G,p.358S>G
chr22:36661906	worst	missense
chr22:36661906	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36661906	nvar	1
chr22:36661906	var	chr22:36661906:A/G
chr22:36662034	allele_ref	T
chr22:36662034	allele_alt	G
chr22:36662034	seqdb_ref	T
chr22:36662034	snp_fw_seq3	TTC/TGC
chr22:36662034	snp_rv_seq3	GAA/GCA
chr22:36662034	func	missense,missense,missense,missense
chr22:36662034	transcript	NM_001136540,NM_001136541,NM_003661,NM_145343
chr22:36662034	genomic	g.1152T>G,g.1098T>G,g.1152T>G,g.1200T>G
chr22:36662034	codon	c.1152ATT>ATG,c.1098ATT>ATG,c.1152ATT>ATG,c.1200ATT>ATG
chr22:36662034	protein	p.384I>M,p.366I>M,p.384I>M,p.400I>M
chr22:36662034	worst	missense
chr22:36662034	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36662034	nvar	1
chr22:36662034	var	chr22:36662034:T/G
chr22:36678816	allele_ref	C
chr22:36678816	allele_alt	A
chr22:36678816	seqdb_ref	C
chr22:36678816	snp_fw_seq3	ACG/AAG
chr22:36678816	snp_rv_seq3	CGT/CTT
chr22:36678816	func	silent
chr22:36678816	transcript	NM_002473
chr22:36678816	genomic	.
chr22:36678816	codon	.
chr22:36678816	protein	.
chr22:36678816	worst	silent
chr22:36678816	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36678816	nvar	1
chr22:36678816	var	chr22:36678816:C/A
chr22:36680162	allele_ref	G
chr22:36680162	allele_alt	A
chr22:36680162	seqdb_ref	G
chr22:36680162	snp_fw_seq3	TGA/TAA
chr22:36680162	snp_rv_seq3	TCA/TTA
chr22:36680162	func	silent
chr22:36680162	transcript	NM_002473
chr22:36680162	genomic	.
chr22:36680162	codon	.
chr22:36680162	protein	.
chr22:36680162	worst	silent
chr22:36680162	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36680162	nvar	1
chr22:36680162	var	chr22:36680162:G/A
chr22:36682734	allele_ref	G
chr22:36682734	allele_alt	A
chr22:36682734	seqdb_ref	G
chr22:36682734	snp_fw_seq3	CGG/CAG
chr22:36682734	snp_rv_seq3	CCG/CTG
chr22:36682734	func	intronic
chr22:36682734	transcript	NM_002473
chr22:36682734	genomic	.
chr22:36682734	codon	.
chr22:36682734	protein	.
chr22:36682734	worst	intronic
chr22:36682734	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36682734	nvar	1
chr22:36682734	var	chr22:36682734:G/A
chr22:36684331	allele_ref	C
chr22:36684331	allele_alt	T
chr22:36684331	seqdb_ref	C
chr22:36684331	snp_fw_seq3	CCC/CTC
chr22:36684331	snp_rv_seq3	GGG/GAG
chr22:36684331	func	silent
chr22:36684331	transcript	NM_002473
chr22:36684331	genomic	.
chr22:36684331	codon	.
chr22:36684331	protein	.
chr22:36684331	worst	silent
chr22:36684331	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36684331	nvar	1
chr22:36684331	var	chr22:36684331:C/T
chr22:36684354	allele_ref	T
chr22:36684354	allele_alt	C
chr22:36684354	seqdb_ref	T
chr22:36684354	snp_fw_seq3	ATG/ACG
chr22:36684354	snp_rv_seq3	CAT/CGT
chr22:36684354	func	missense
chr22:36684354	transcript	NM_002473
chr22:36684354	genomic	g.4876T>C
chr22:36684354	codon	c.4876ATC>GTC
chr22:36684354	protein	p.1626I>V
chr22:36684354	worst	missense
chr22:36684354	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36684354	nvar	1
chr22:36684354	var	chr22:36684354:T/C
chr22:36684358	allele_ref	C
chr22:36684358	allele_alt	A
chr22:36684358	seqdb_ref	C
chr22:36684358	snp_fw_seq3	GCG/GAG
chr22:36684358	snp_rv_seq3	CGC/CTC
chr22:36684358	func	silent
chr22:36684358	transcript	NM_002473
chr22:36684358	genomic	.
chr22:36684358	codon	.
chr22:36684358	protein	.
chr22:36684358	worst	silent
chr22:36684358	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36684358	nvar	1
chr22:36684358	var	chr22:36684358:C/A
chr22:36684980	allele_ref	G
chr22:36684980	allele_alt	A
chr22:36684980	seqdb_ref	G
chr22:36684980	snp_fw_seq3	CGT/CAT
chr22:36684980	snp_rv_seq3	ACG/ATG
chr22:36684980	func	silent
chr22:36684980	transcript	NM_002473
chr22:36684980	genomic	.
chr22:36684980	codon	.
chr22:36684980	protein	.
chr22:36684980	worst	silent
chr22:36684980	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36684980	nvar	1
chr22:36684980	var	chr22:36684980:G/A
chr22:36688296	allele_ref	G
chr22:36688296	allele_alt	T
chr22:36688296	seqdb_ref	G
chr22:36688296	snp_fw_seq3	GGA/GTA
chr22:36688296	snp_rv_seq3	TCC/TAC
chr22:36688296	func	intronic
chr22:36688296	transcript	NM_002473
chr22:36688296	genomic	.
chr22:36688296	codon	.
chr22:36688296	protein	.
chr22:36688296	worst	intronic
chr22:36688296	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36688296	nvar	1
chr22:36688296	var	chr22:36688296:G/T
chr22:36689917	allele_ref	G
chr22:36689917	allele_alt	A
chr22:36689917	seqdb_ref	G
chr22:36689917	snp_fw_seq3	CGG/CAG
chr22:36689917	snp_rv_seq3	CCG/CTG
chr22:36689917	func	intronic
chr22:36689917	transcript	NM_002473
chr22:36689917	genomic	.
chr22:36689917	codon	.
chr22:36689917	protein	.
chr22:36689917	worst	intronic
chr22:36689917	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36689917	nvar	1
chr22:36689917	var	chr22:36689917:G/A
chr22:36689921	allele_ref	G
chr22:36689921	allele_alt	A
chr22:36689921	seqdb_ref	G
chr22:36689921	snp_fw_seq3	CGG/CAG
chr22:36689921	snp_rv_seq3	CCG/CTG
chr22:36689921	func	intronic
chr22:36689921	transcript	NM_002473
chr22:36689921	genomic	.
chr22:36689921	codon	.
chr22:36689921	protein	.
chr22:36689921	worst	intronic
chr22:36689921	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36689921	nvar	1
chr22:36689921	var	chr22:36689921:G/A
chr22:36690113	allele_ref	G
chr22:36690113	allele_alt	A
chr22:36690113	seqdb_ref	G
chr22:36690113	snp_fw_seq3	CGC/CAC
chr22:36690113	snp_rv_seq3	GCG/GTG
chr22:36690113	func	intronic
chr22:36690113	transcript	NM_002473
chr22:36690113	genomic	.
chr22:36690113	codon	.
chr22:36690113	protein	.
chr22:36690113	worst	intronic
chr22:36690113	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36690113	nvar	1
chr22:36690113	var	chr22:36690113:G/A
chr22:36690120	allele_ref	T
chr22:36690120	allele_alt	C
chr22:36690120	seqdb_ref	T
chr22:36690120	snp_fw_seq3	GTC/GCC
chr22:36690120	snp_rv_seq3	GAC/GGC
chr22:36690120	func	intronic
chr22:36690120	transcript	NM_002473
chr22:36690120	genomic	.
chr22:36690120	codon	.
chr22:36690120	protein	.
chr22:36690120	worst	intronic
chr22:36690120	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36690120	nvar	1
chr22:36690120	var	chr22:36690120:T/C
chr22:36690282	allele_ref	G
chr22:36690282	allele_alt	A
chr22:36690282	seqdb_ref	G
chr22:36690282	snp_fw_seq3	CGT/CAT
chr22:36690282	snp_rv_seq3	ACG/ATG
chr22:36690282	func	silent
chr22:36690282	transcript	NM_002473
chr22:36690282	genomic	.
chr22:36690282	codon	.
chr22:36690282	protein	.
chr22:36690282	worst	silent
chr22:36690282	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36690282	nvar	1
chr22:36690282	var	chr22:36690282:G/A
chr22:36691607	allele_ref	A
chr22:36691607	allele_alt	C
chr22:36691607	seqdb_ref	A
chr22:36691607	snp_fw_seq3	GAG/GCG
chr22:36691607	snp_rv_seq3	CTC/CGC
chr22:36691607	func	silent
chr22:36691607	transcript	NM_002473
chr22:36691607	genomic	.
chr22:36691607	codon	.
chr22:36691607	protein	.
chr22:36691607	worst	silent
chr22:36691607	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36691607	nvar	1
chr22:36691607	var	chr22:36691607:A/C
chr22:36691691	allele_ref	T
chr22:36691691	allele_alt	C
chr22:36691691	seqdb_ref	T
chr22:36691691	snp_fw_seq3	GTT/GCT
chr22:36691691	snp_rv_seq3	AAC/AGC
chr22:36691691	func	silent
chr22:36691691	transcript	NM_002473
chr22:36691691	genomic	.
chr22:36691691	codon	.
chr22:36691691	protein	.
chr22:36691691	worst	silent
chr22:36691691	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36691691	nvar	1
chr22:36691691	var	chr22:36691691:T/C
chr22:36692915	allele_ref	C
chr22:36692915	allele_alt	T
chr22:36692915	seqdb_ref	C
chr22:36692915	snp_fw_seq3	CCT/CTT
chr22:36692915	snp_rv_seq3	AGG/AAG
chr22:36692915	func	silent
chr22:36692915	transcript	NM_002473
chr22:36692915	genomic	.
chr22:36692915	codon	.
chr22:36692915	protein	.
chr22:36692915	worst	silent
chr22:36692915	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36692915	nvar	1
chr22:36692915	var	chr22:36692915:C/T
chr22:36694929	allele_ref	C
chr22:36694929	allele_alt	T
chr22:36694929	seqdb_ref	C
chr22:36694929	snp_fw_seq3	GCC/GTC
chr22:36694929	snp_rv_seq3	GGC/GAC
chr22:36694929	func	intronic
chr22:36694929	transcript	NM_002473
chr22:36694929	genomic	.
chr22:36694929	codon	.
chr22:36694929	protein	.
chr22:36694929	worst	intronic
chr22:36694929	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36694929	nvar	1
chr22:36694929	var	chr22:36694929:C/T
chr22:36697014	allele_ref	G
chr22:36697014	allele_alt	A
chr22:36697014	seqdb_ref	G
chr22:36697014	snp_fw_seq3	CGG/CAG
chr22:36697014	snp_rv_seq3	CCG/CTG
chr22:36697014	func	silent
chr22:36697014	transcript	NM_002473
chr22:36697014	genomic	.
chr22:36697014	codon	.
chr22:36697014	protein	.
chr22:36697014	worst	silent
chr22:36697014	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36697014	nvar	1
chr22:36697014	var	chr22:36697014:G/A
chr22:36700175	allele_ref	A
chr22:36700175	allele_alt	G
chr22:36700175	seqdb_ref	A
chr22:36700175	snp_fw_seq3	GAT/GGT
chr22:36700175	snp_rv_seq3	ATC/ACC
chr22:36700175	func	silent
chr22:36700175	transcript	NM_002473
chr22:36700175	genomic	.
chr22:36700175	codon	.
chr22:36700175	protein	.
chr22:36700175	worst	silent
chr22:36700175	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36700175	nvar	1
chr22:36700175	var	chr22:36700175:A/G
chr22:36701066	allele_ref	C
chr22:36701066	allele_alt	A
chr22:36701066	seqdb_ref	C
chr22:36701066	snp_fw_seq3	GCA/GAA
chr22:36701066	snp_rv_seq3	TGC/TTC
chr22:36701066	func	intronic
chr22:36701066	transcript	NM_002473
chr22:36701066	genomic	.
chr22:36701066	codon	.
chr22:36701066	protein	.
chr22:36701066	worst	intronic
chr22:36701066	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36701066	nvar	1
chr22:36701066	var	chr22:36701066:C/A
chr22:36702102	allele_ref	A
chr22:36702102	allele_alt	G
chr22:36702102	seqdb_ref	A
chr22:36702102	snp_fw_seq3	GAG/GGG
chr22:36702102	snp_rv_seq3	CTC/CCC
chr22:36702102	func	intronic,splice
chr22:36702102	annot_details	DIST=5,NMD=0,OFPTV=1,EXIN=17,ISEQ=GACCTC,ESEQ=CGGCCG,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS17+5T>C
chr22:36702102	transcript	NM_002473,NM_002473
chr22:36702102	genomic	.,.
chr22:36702102	codon	.,.
chr22:36702102	protein	.,.
chr22:36702102	worst	splice
chr22:36702102	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36702102	nvar	1
chr22:36702102	var	chr22:36702102:A/G
chr22:36705447	allele_ref	G
chr22:36705447	allele_alt	A
chr22:36705447	seqdb_ref	G
chr22:36705447	snp_fw_seq3	CGG/CAG
chr22:36705447	snp_rv_seq3	CCG/CTG
chr22:36705447	func	intronic
chr22:36705447	transcript	NM_002473
chr22:36705447	genomic	.
chr22:36705447	codon	.
chr22:36705447	protein	.
chr22:36705447	worst	intronic
chr22:36705447	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36705447	nvar	1
chr22:36705447	var	chr22:36705447:G/A
chr22:36708084	allele_ref	C
chr22:36708084	allele_alt	T
chr22:36708084	seqdb_ref	C
chr22:36708084	snp_fw_seq3	GCG/GTG
chr22:36708084	snp_rv_seq3	CGC/CAC
chr22:36708084	func	intronic
chr22:36708084	transcript	NM_002473
chr22:36708084	genomic	.
chr22:36708084	codon	.
chr22:36708084	protein	.
chr22:36708084	worst	intronic
chr22:36708084	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36708084	nvar	1
chr22:36708084	var	chr22:36708084:C/T
chr22:36708279	allele_ref	G
chr22:36708279	allele_alt	A
chr22:36708279	seqdb_ref	G
chr22:36708279	snp_fw_seq3	CGC/CAC
chr22:36708279	snp_rv_seq3	GCG/GTG
chr22:36708279	func	intronic
chr22:36708279	transcript	NM_002473
chr22:36708279	genomic	.
chr22:36708279	codon	.
chr22:36708279	protein	.
chr22:36708279	worst	intronic
chr22:36708279	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36708279	nvar	1
chr22:36708279	var	chr22:36708279:G/A
chr22:36710183	allele_ref	T
chr22:36710183	allele_alt	C
chr22:36710183	seqdb_ref	T
chr22:36710183	snp_fw_seq3	GTA/GCA
chr22:36710183	snp_rv_seq3	TAC/TGC
chr22:36710183	func	intronic
chr22:36710183	transcript	NM_002473
chr22:36710183	genomic	.
chr22:36710183	codon	.
chr22:36710183	protein	.
chr22:36710183	worst	intronic
chr22:36710183	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36710183	nvar	1
chr22:36710183	var	chr22:36710183:T/C
chr22:36712549	allele_ref	G
chr22:36712549	allele_alt	A
chr22:36712549	seqdb_ref	G
chr22:36712549	snp_fw_seq3	AGG/AAG
chr22:36712549	snp_rv_seq3	CCT/CTT
chr22:36712549	func	intronic
chr22:36712549	transcript	NM_002473
chr22:36712549	genomic	.
chr22:36712549	codon	.
chr22:36712549	protein	.
chr22:36712549	worst	intronic
chr22:36712549	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36712549	nvar	1
chr22:36712549	var	chr22:36712549:G/A
chr22:36722634	allele_ref	C
chr22:36722634	allele_alt	T
chr22:36722634	seqdb_ref	C
chr22:36722634	snp_fw_seq3	GCG/GTG
chr22:36722634	snp_rv_seq3	CGC/CAC
chr22:36722634	func	silent
chr22:36722634	transcript	NM_002473
chr22:36722634	genomic	.
chr22:36722634	codon	.
chr22:36722634	protein	.
chr22:36722634	worst	silent
chr22:36722634	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36722634	nvar	1
chr22:36722634	var	chr22:36722634:C/T
chr22:36863817	allele_ref	C
chr22:36863817	allele_alt	T
chr22:36863817	seqdb_ref	C
chr22:36863817	snp_fw_seq3	ACG/ATG
chr22:36863817	snp_rv_seq3	CGT/CAT
chr22:36863817	func	3-UTR
chr22:36863817	transcript	NM_012473
chr22:36863817	genomic	.
chr22:36863817	codon	.
chr22:36863817	protein	.
chr22:36863817	worst	UTR3
chr22:36863817	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:36863817	nvar	1
chr22:36863817	var	chr22:36863817:C/T
chr22:36872750	allele_ref	T
chr22:36872750	allele_alt	G
chr22:36872750	seqdb_ref	T
chr22:36872750	snp_fw_seq3	TTC/TGC
chr22:36872750	snp_rv_seq3	GAA/GCA
chr22:36872750	func	intronic
chr22:36872750	transcript	NM_012473
chr22:36872750	genomic	.
chr22:36872750	codon	.
chr22:36872750	protein	.
chr22:36872750	worst	intronic
chr22:36872750	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36872750	nvar	1
chr22:36872750	var	chr22:36872750:T/G
chr22:36886178	allele_ref	A
chr22:36886178	allele_alt	G
chr22:36886178	seqdb_ref	A
chr22:36886178	snp_fw_seq3	CAT/CGT
chr22:36886178	snp_rv_seq3	ATG/ACG
chr22:36886178	func	silent,silent
chr22:36886178	transcript	NM_001102371,NM_024955
chr22:36886178	genomic	.,.
chr22:36886178	codon	.,.
chr22:36886178	protein	.,.
chr22:36886178	worst	silent
chr22:36886178	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36886178	nvar	1
chr22:36886178	var	chr22:36886178:A/G
chr22:36892273	allele_ref	C
chr22:36892273	allele_alt	T
chr22:36892273	seqdb_ref	C
chr22:36892273	snp_fw_seq3	GCG/GTG
chr22:36892273	snp_rv_seq3	CGC/CAC
chr22:36892273	func	intronic,intronic
chr22:36892273	transcript	NM_001102371,NM_024955
chr22:36892273	genomic	.,.
chr22:36892273	codon	.,.
chr22:36892273	protein	.,.
chr22:36892273	worst	intronic
chr22:36892273	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36892273	nvar	1
chr22:36892273	var	chr22:36892273:C/T
chr22:36897383	allele_ref	T
chr22:36897383	allele_alt	C
chr22:36897383	seqdb_ref	T
chr22:36897383	snp_fw_seq3	TTT/TCT
chr22:36897383	snp_rv_seq3	AAA/AGA
chr22:36897383	func	missense,missense
chr22:36897383	transcript	NM_001102371,NM_024955
chr22:36897383	genomic	g.1121T>C,g.1121T>C
chr22:36897383	codon	c.1121AAA>AGA,c.1121AAA>AGA
chr22:36897383	protein	p.374K>R,p.374K>R
chr22:36897383	worst	missense
chr22:36897383	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36897383	nvar	1
chr22:36897383	var	chr22:36897383:T/C
chr22:36900271	allele_ref	T
chr22:36900271	allele_alt	C
chr22:36900271	seqdb_ref	T
chr22:36900271	snp_fw_seq3	GTT/GCT
chr22:36900271	snp_rv_seq3	AAC/AGC
chr22:36900271	func	missense,missense
chr22:36900271	transcript	NM_001102371,NM_024955
chr22:36900271	genomic	g.923T>C,g.923T>C
chr22:36900271	codon	c.923AAC>AGC,c.923AAC>AGC
chr22:36900271	protein	p.308N>S,p.308N>S
chr22:36900271	worst	missense
chr22:36900271	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36900271	nvar	1
chr22:36900271	var	chr22:36900271:T/C
chr22:36900342	allele_ref	C
chr22:36900342	allele_alt	T
chr22:36900342	seqdb_ref	C
chr22:36900342	snp_fw_seq3	CCG/CTG
chr22:36900342	snp_rv_seq3	CGG/CAG
chr22:36900342	func	silent,silent
chr22:36900342	transcript	NM_001102371,NM_024955
chr22:36900342	genomic	.,.
chr22:36900342	codon	.,.
chr22:36900342	protein	.,.
chr22:36900342	worst	silent
chr22:36900342	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36900342	nvar	1
chr22:36900342	var	chr22:36900342:C/T
chr22:36900806	allele_ref	A
chr22:36900806	allele_alt	G
chr22:36900806	seqdb_ref	A
chr22:36900806	snp_fw_seq3	AAG/AGG
chr22:36900806	snp_rv_seq3	CTT/CCT
chr22:36900806	func	missense,missense
chr22:36900806	transcript	NM_001102371,NM_024955
chr22:36900806	genomic	g.535A>G,g.535A>G
chr22:36900806	codon	c.535TTT>CTT,c.535TTT>CTT
chr22:36900806	protein	p.179F>L,p.179F>L
chr22:36900806	worst	missense
chr22:36900806	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36900806	nvar	1
chr22:36900806	var	chr22:36900806:A/G
chr22:36902161	allele_ref	G
chr22:36902161	allele_alt	A
chr22:36902161	seqdb_ref	G
chr22:36902161	snp_fw_seq3	TGA/TAA
chr22:36902161	snp_rv_seq3	TCA/TTA
chr22:36902161	func	silent,silent
chr22:36902161	transcript	NM_001102371,NM_024955
chr22:36902161	genomic	.,.
chr22:36902161	codon	.,.
chr22:36902161	protein	.,.
chr22:36902161	worst	silent
chr22:36902161	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36902161	nvar	1
chr22:36902161	var	chr22:36902161:G/A
chr22:36902259	allele_ref	G
chr22:36902259	allele_alt	A
chr22:36902259	seqdb_ref	G
chr22:36902259	snp_fw_seq3	CGT/CAT
chr22:36902259	snp_rv_seq3	ACG/ATG
chr22:36902259	func	missense,missense
chr22:36902259	transcript	NM_001102371,NM_024955
chr22:36902259	genomic	g.211G>A,g.211G>A
chr22:36902259	codon	c.211CGC>TGC,c.211CGC>TGC
chr22:36902259	protein	p.71R>C,p.71R>C
chr22:36902259	worst	missense
chr22:36902259	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36902259	nvar	1
chr22:36902259	var	chr22:36902259:G/A
chr22:36908587	allele_ref	C
chr22:36908587	allele_alt	T
chr22:36908587	seqdb_ref	C
chr22:36908587	snp_fw_seq3	CCG/CTG
chr22:36908587	snp_rv_seq3	CGG/CAG
chr22:36908587	func	silent
chr22:36908587	transcript	NM_003753
chr22:36908587	genomic	.
chr22:36908587	codon	.
chr22:36908587	protein	.
chr22:36908587	worst	silent
chr22:36908587	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36908587	nvar	1
chr22:36908587	var	chr22:36908587:C/T
chr22:36912630	allele_ref	A
chr22:36912630	allele_alt	G
chr22:36912630	seqdb_ref	A
chr22:36912630	snp_fw_seq3	CAT/CGT
chr22:36912630	snp_rv_seq3	ATG/ACG
chr22:36912630	func	silent
chr22:36912630	transcript	NM_003753
chr22:36912630	genomic	.
chr22:36912630	codon	.
chr22:36912630	protein	.
chr22:36912630	worst	silent
chr22:36912630	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36912630	nvar	1
chr22:36912630	var	chr22:36912630:A/G
chr22:36912724	allele_ref	C
chr22:36912724	allele_alt	T
chr22:36912724	seqdb_ref	C
chr22:36912724	snp_fw_seq3	CCA/CTA
chr22:36912724	snp_rv_seq3	TGG/TAG
chr22:36912724	func	intronic
chr22:36912724	transcript	NM_003753
chr22:36912724	genomic	.
chr22:36912724	codon	.
chr22:36912724	protein	.
chr22:36912724	worst	intronic
chr22:36912724	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36912724	nvar	1
chr22:36912724	var	chr22:36912724:C/T
chr22:36914967	allele_ref	G
chr22:36914967	allele_alt	A
chr22:36914967	seqdb_ref	G
chr22:36914967	snp_fw_seq3	AGG/AAG
chr22:36914967	snp_rv_seq3	CCT/CTT
chr22:36914967	func	intronic
chr22:36914967	transcript	NM_003753
chr22:36914967	genomic	.
chr22:36914967	codon	.
chr22:36914967	protein	.
chr22:36914967	worst	intronic
chr22:36914967	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36914967	nvar	1
chr22:36914967	var	chr22:36914967:G/A
chr22:36915445	allele_ref	C
chr22:36915445	allele_alt	T
chr22:36915445	seqdb_ref	C
chr22:36915445	snp_fw_seq3	GCG/GTG
chr22:36915445	snp_rv_seq3	CGC/CAC
chr22:36915445	func	intronic
chr22:36915445	transcript	NM_003753
chr22:36915445	genomic	.
chr22:36915445	codon	.
chr22:36915445	protein	.
chr22:36915445	worst	intronic
chr22:36915445	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36915445	nvar	1
chr22:36915445	var	chr22:36915445:C/T
chr22:36916753	allele_ref	T
chr22:36916753	allele_alt	C
chr22:36916753	seqdb_ref	T
chr22:36916753	snp_fw_seq3	TTA/TCA
chr22:36916753	snp_rv_seq3	TAA/TGA
chr22:36916753	func	intronic
chr22:36916753	transcript	NM_003753
chr22:36916753	genomic	.
chr22:36916753	codon	.
chr22:36916753	protein	.
chr22:36916753	worst	intronic
chr22:36916753	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36916753	nvar	1
chr22:36916753	var	chr22:36916753:T/C
chr22:36919242	allele_ref	T
chr22:36919242	allele_alt	A
chr22:36919242	seqdb_ref	T
chr22:36919242	snp_fw_seq3	GTA/GAA
chr22:36919242	snp_rv_seq3	TAC/TTC
chr22:36919242	func	intronic
chr22:36919242	transcript	NM_003753
chr22:36919242	genomic	.
chr22:36919242	codon	.
chr22:36919242	protein	.
chr22:36919242	worst	intronic
chr22:36919242	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36919242	nvar	1
chr22:36919242	var	chr22:36919242:T/A
chr22:36919343	allele_ref	A
chr22:36919343	allele_alt	G
chr22:36919343	seqdb_ref	A
chr22:36919343	snp_fw_seq3	CAT/CGT
chr22:36919343	snp_rv_seq3	ATG/ACG
chr22:36919343	func	intronic
chr22:36919343	transcript	NM_003753
chr22:36919343	genomic	.
chr22:36919343	codon	.
chr22:36919343	protein	.
chr22:36919343	worst	intronic
chr22:36919343	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36919343	nvar	1
chr22:36919343	var	chr22:36919343:A/G
chr22:36919895	allele_ref	G
chr22:36919895	allele_alt	A
chr22:36919895	seqdb_ref	G
chr22:36919895	snp_fw_seq3	CGG/CAG
chr22:36919895	snp_rv_seq3	CCG/CTG
chr22:36919895	func	intronic
chr22:36919895	transcript	NM_003753
chr22:36919895	genomic	.
chr22:36919895	codon	.
chr22:36919895	protein	.
chr22:36919895	worst	intronic
chr22:36919895	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36919895	nvar	1
chr22:36919895	var	chr22:36919895:G/A
chr22:36920062	allele_ref	T
chr22:36920062	allele_alt	C
chr22:36920062	seqdb_ref	T
chr22:36920062	snp_fw_seq3	CTT/CCT
chr22:36920062	snp_rv_seq3	AAG/AGG
chr22:36920062	func	intronic
chr22:36920062	transcript	NM_003753
chr22:36920062	genomic	.
chr22:36920062	codon	.
chr22:36920062	protein	.
chr22:36920062	worst	intronic
chr22:36920062	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36920062	nvar	1
chr22:36920062	var	chr22:36920062:T/C
chr22:36920806	allele_ref	T
chr22:36920806	allele_alt	C
chr22:36920806	seqdb_ref	T
chr22:36920806	snp_fw_seq3	GTA/GCA
chr22:36920806	snp_rv_seq3	TAC/TGC
chr22:36920806	func	intronic
chr22:36920806	transcript	NM_003753
chr22:36920806	genomic	.
chr22:36920806	codon	.
chr22:36920806	protein	.
chr22:36920806	worst	intronic
chr22:36920806	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36920806	nvar	1
chr22:36920806	var	chr22:36920806:T/C
chr22:36921761	allele_ref	G
chr22:36921761	allele_alt	A
chr22:36921761	seqdb_ref	G
chr22:36921761	snp_fw_seq3	CGA/CAA
chr22:36921761	snp_rv_seq3	TCG/TTG
chr22:36921761	func	intronic,splice
chr22:36921761	annot_details	DIST=5,NMD=0,OFPTV=0,EXIN=3,ISEQ=GATGCT,ESEQ=ACGTTG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS3+5C>T
chr22:36921761	transcript	NM_003753,NM_003753
chr22:36921761	genomic	.,.
chr22:36921761	codon	.,.
chr22:36921761	protein	.,.
chr22:36921761	worst	splice
chr22:36921761	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36921761	nvar	1
chr22:36921761	var	chr22:36921761:G/A
chr22:36922052	allele_ref	T
chr22:36922052	allele_alt	C
chr22:36922052	seqdb_ref	T
chr22:36922052	snp_fw_seq3	CTA/CCA
chr22:36922052	snp_rv_seq3	TAG/TGG
chr22:36922052	func	silent
chr22:36922052	transcript	NM_003753
chr22:36922052	genomic	.
chr22:36922052	codon	.
chr22:36922052	protein	.
chr22:36922052	worst	silent
chr22:36922052	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36922052	nvar	1
chr22:36922052	var	chr22:36922052:T/C
chr22:36922067	allele_ref	G
chr22:36922067	allele_alt	A
chr22:36922067	seqdb_ref	G
chr22:36922067	snp_fw_seq3	TGC/TAC
chr22:36922067	snp_rv_seq3	GCA/GTA
chr22:36922067	func	silent
chr22:36922067	transcript	NM_003753
chr22:36922067	genomic	.
chr22:36922067	codon	.
chr22:36922067	protein	.
chr22:36922067	worst	silent
chr22:36922067	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36922067	nvar	1
chr22:36922067	var	chr22:36922067:G/A
chr22:36922205	allele_ref	C
chr22:36922205	allele_alt	T
chr22:36922205	seqdb_ref	C
chr22:36922205	snp_fw_seq3	GCG/GTG
chr22:36922205	snp_rv_seq3	CGC/CAC
chr22:36922205	func	intronic
chr22:36922205	transcript	NM_003753
chr22:36922205	genomic	.
chr22:36922205	codon	.
chr22:36922205	protein	.
chr22:36922205	worst	intronic
chr22:36922205	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36922205	nvar	1
chr22:36922205	var	chr22:36922205:C/T
chr22:36962353	allele_ref	C
chr22:36962353	allele_alt	G
chr22:36962353	seqdb_ref	C
chr22:36962353	snp_fw_seq3	ACA/AGA
chr22:36962353	snp_rv_seq3	TGT/TCT
chr22:36962353	func	intronic
chr22:36962353	transcript	NM_006078
chr22:36962353	genomic	.
chr22:36962353	codon	.
chr22:36962353	protein	.
chr22:36962353	worst	intronic
chr22:36962353	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36962353	nvar	1
chr22:36962353	var	chr22:36962353:C/G
chr22:36983540	allele_ref	G
chr22:36983540	allele_alt	A
chr22:36983540	seqdb_ref	G
chr22:36983540	snp_fw_seq3	CGT/CAT
chr22:36983540	snp_rv_seq3	ACG/ATG
chr22:36983540	func	silent
chr22:36983540	transcript	NM_006078
chr22:36983540	genomic	.
chr22:36983540	codon	.
chr22:36983540	protein	.
chr22:36983540	worst	silent
chr22:36983540	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:36983540	nvar	1
chr22:36983540	var	chr22:36983540:G/A
chr22:37158995	allele_ref	G
chr22:37158995	allele_alt	A
chr22:37158995	seqdb_ref	G
chr22:37158995	snp_fw_seq3	CGG/CAG
chr22:37158995	snp_rv_seq3	CCG/CTG
chr22:37158995	func	missense,missense
chr22:37158995	transcript	NM_001177701,NM_006860
chr22:37158995	genomic	g.415G>A,g.412G>A
chr22:37158995	codon	c.415CGG>TGG,c.412CGG>TGG
chr22:37158995	protein	p.139R>W,p.138R>W
chr22:37158995	worst	missense
chr22:37158995	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37158995	nvar	1
chr22:37158995	var	chr22:37158995:G/A
chr22:37159101	allele_ref	C
chr22:37159101	allele_alt	G
chr22:37159101	seqdb_ref	C
chr22:37159101	snp_fw_seq3	ACT/AGT
chr22:37159101	snp_rv_seq3	AGT/ACT
chr22:37159101	func	intronic,intronic
chr22:37159101	transcript	NM_001177701,NM_006860
chr22:37159101	genomic	.,.
chr22:37159101	codon	.,.
chr22:37159101	protein	.,.
chr22:37159101	worst	intronic
chr22:37159101	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37159101	nvar	1
chr22:37159101	var	chr22:37159101:C/G
chr22:37163329	allele_ref	C
chr22:37163329	allele_alt	T
chr22:37163329	seqdb_ref	C
chr22:37163329	snp_fw_seq3	CCT/CTT
chr22:37163329	snp_rv_seq3	AGG/AAG
chr22:37163329	func	intronic,intronic
chr22:37163329	transcript	NM_001177701,NM_006860
chr22:37163329	genomic	.,.
chr22:37163329	codon	.,.
chr22:37163329	protein	.,.
chr22:37163329	worst	intronic
chr22:37163329	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37163329	nvar	1
chr22:37163329	var	chr22:37163329:C/T
chr22:37171689	allele_ref	C
chr22:37171689	allele_alt	A
chr22:37171689	seqdb_ref	C
chr22:37171689	snp_fw_seq3	CCG/CAG
chr22:37171689	snp_rv_seq3	CGG/CTG
chr22:37171689	func	intronic,intronic,intronic
chr22:37171689	transcript	NM_001177701,NM_006860,NR_033531
chr22:37171689	genomic	.,.,.
chr22:37171689	codon	.,.,.
chr22:37171689	protein	.,.,.
chr22:37171689	worst	intronic
chr22:37171689	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37171689	nvar	1
chr22:37171689	var	chr22:37171689:C/A
chr22:37196971	allele_ref	C
chr22:37196971	allele_alt	A
chr22:37196971	seqdb_ref	C
chr22:37196971	snp_fw_seq3	ACA/AAA
chr22:37196971	snp_rv_seq3	TGT/TTT
chr22:37196971	func	intronic
chr22:37196971	transcript	NM_002854
chr22:37196971	genomic	.
chr22:37196971	codon	.
chr22:37196971	protein	.
chr22:37196971	worst	intronic
chr22:37196971	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37196971	nvar	1
chr22:37196971	var	chr22:37196971:C/A
chr22:37196986	allele_ref	A
chr22:37196986	allele_alt	G
chr22:37196986	seqdb_ref	A
chr22:37196986	snp_fw_seq3	AAG/AGG
chr22:37196986	snp_rv_seq3	CTT/CCT
chr22:37196986	func	intronic
chr22:37196986	transcript	NM_002854
chr22:37196986	genomic	.
chr22:37196986	codon	.
chr22:37196986	protein	.
chr22:37196986	worst	intronic
chr22:37196986	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37196986	nvar	1
chr22:37196986	var	chr22:37196986:A/G
chr22:37211287	allele_ref	G
chr22:37211287	allele_alt	T
chr22:37211287	seqdb_ref	G
chr22:37211287	snp_fw_seq3	GGG/GTG
chr22:37211287	snp_rv_seq3	CCC/CAC
chr22:37211287	func	intronic
chr22:37211287	transcript	NM_002854
chr22:37211287	genomic	.
chr22:37211287	codon	.
chr22:37211287	protein	.
chr22:37211287	worst	intronic
chr22:37211287	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37211287	nvar	1
chr22:37211287	var	chr22:37211287:G/T
chr22:37260117	allele_ref	C
chr22:37260117	allele_alt	T
chr22:37260117	seqdb_ref	C
chr22:37260117	snp_fw_seq3	CCA/CTA
chr22:37260117	snp_rv_seq3	TGG/TAG
chr22:37260117	func	silent,silent
chr22:37260117	transcript	NM_000631,NM_013416
chr22:37260117	genomic	.,.
chr22:37260117	codon	.,.
chr22:37260117	protein	.,.
chr22:37260117	worst	silent
chr22:37260117	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37260117	nvar	1
chr22:37260117	var	chr22:37260117:C/T
chr22:37260123	allele_ref	G
chr22:37260123	allele_alt	A
chr22:37260123	seqdb_ref	G
chr22:37260123	snp_fw_seq3	CGG/CAG
chr22:37260123	snp_rv_seq3	CCG/CTG
chr22:37260123	func	silent,silent
chr22:37260123	transcript	NM_000631,NM_013416
chr22:37260123	genomic	.,.
chr22:37260123	codon	.,.
chr22:37260123	protein	.,.
chr22:37260123	worst	silent
chr22:37260123	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37260123	nvar	1
chr22:37260123	var	chr22:37260123:G/A
chr22:37261083	allele_ref	T
chr22:37261083	allele_alt	C
chr22:37261083	seqdb_ref	T
chr22:37261083	snp_fw_seq3	GTG/GCG
chr22:37261083	snp_rv_seq3	CAC/CGC
chr22:37261083	func	silent,silent
chr22:37261083	transcript	NM_000631,NM_013416
chr22:37261083	genomic	.,.
chr22:37261083	codon	.,.
chr22:37261083	protein	.,.
chr22:37261083	worst	silent
chr22:37261083	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37261083	nvar	1
chr22:37261083	var	chr22:37261083:T/C
chr22:37261097	allele_ref	C
chr22:37261097	allele_alt	A
chr22:37261097	seqdb_ref	C
chr22:37261097	snp_fw_seq3	ACC/AAC
chr22:37261097	snp_rv_seq3	GGT/GTT
chr22:37261097	func	missense,missense
chr22:37261097	transcript	NM_000631,NM_013416
chr22:37261097	genomic	g.254C>A,g.254C>A
chr22:37261097	codon	c.254ACC>AAC,c.254ACC>AAC
chr22:37261097	protein	p.85T>N,p.85T>N
chr22:37261097	worst	missense
chr22:37261097	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37261097	nvar	1
chr22:37261097	var	chr22:37261097:C/A
chr22:37266604	allele_ref	G
chr22:37266604	allele_alt	C
chr22:37266604	seqdb_ref	G
chr22:37266604	snp_fw_seq3	GGC/GCC
chr22:37266604	snp_rv_seq3	GCC/GGC
chr22:37266604	func	intronic,intronic
chr22:37266604	transcript	NM_000631,NM_013416
chr22:37266604	genomic	.,.
chr22:37266604	codon	.,.
chr22:37266604	protein	.,.
chr22:37266604	worst	intronic
chr22:37266604	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37266604	nvar	1
chr22:37266604	var	chr22:37266604:G/C
chr22:37267767	allele_ref	A
chr22:37267767	allele_alt	G
chr22:37267767	seqdb_ref	A
chr22:37267767	snp_fw_seq3	CAC/CGC
chr22:37267767	snp_rv_seq3	GTG/GCG
chr22:37267767	func	intronic,intronic
chr22:37267767	transcript	NM_000631,NM_013416
chr22:37267767	genomic	.,.
chr22:37267767	codon	.,.
chr22:37267767	protein	.,.
chr22:37267767	worst	intronic
chr22:37267767	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37267767	nvar	1
chr22:37267767	var	chr22:37267767:A/G
chr22:37267768	allele_ref	C
chr22:37267768	allele_alt	A
chr22:37267768	seqdb_ref	C
chr22:37267768	snp_fw_seq3	ACG/AAG
chr22:37267768	snp_rv_seq3	CGT/CTT
chr22:37267768	func	intronic,intronic
chr22:37267768	transcript	NM_000631,NM_013416
chr22:37267768	genomic	.,.
chr22:37267768	codon	.,.
chr22:37267768	protein	.,.
chr22:37267768	worst	intronic
chr22:37267768	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37267768	nvar	1
chr22:37267768	var	chr22:37267768:C/A
chr22:37267769	allele_ref	G
chr22:37267769	allele_alt	C
chr22:37267769	seqdb_ref	G
chr22:37267769	snp_fw_seq3	CGC/CCC
chr22:37267769	snp_rv_seq3	GCG/GGG
chr22:37267769	func	intronic,intronic
chr22:37267769	transcript	NM_000631,NM_013416
chr22:37267769	genomic	.,.
chr22:37267769	codon	.,.
chr22:37267769	protein	.,.
chr22:37267769	worst	intronic
chr22:37267769	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37267769	nvar	1
chr22:37267769	var	chr22:37267769:G/C
chr22:37268501	allele_ref	A
chr22:37268501	allele_alt	G
chr22:37268501	seqdb_ref	a
chr22:37268501	snp_fw_seq3	gaa/gGa
chr22:37268501	snp_rv_seq3	ttc/tCc
chr22:37268501	func	intronic,intronic
chr22:37268501	transcript	NM_000631,NM_013416
chr22:37268501	genomic	.,.
chr22:37268501	codon	.,.
chr22:37268501	protein	.,.
chr22:37268501	worst	intronic
chr22:37268501	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37268501	nvar	1
chr22:37268501	var	chr22:37268501:A/G
chr22:37271802	allele_ref	C
chr22:37271802	allele_alt	T
chr22:37271802	seqdb_ref	C
chr22:37271802	snp_fw_seq3	ACG/ATG
chr22:37271802	snp_rv_seq3	CGT/CAT
chr22:37271802	func	silent,silent
chr22:37271802	transcript	NM_000631,NM_013416
chr22:37271802	genomic	.,.
chr22:37271802	codon	.,.
chr22:37271802	protein	.,.
chr22:37271802	worst	silent
chr22:37271802	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37271802	nvar	1
chr22:37271802	var	chr22:37271802:C/T
chr22:37271882	allele_ref	T
chr22:37271882	allele_alt	C
chr22:37271882	seqdb_ref	T
chr22:37271882	snp_fw_seq3	CTG/CCG
chr22:37271882	snp_rv_seq3	CAG/CGG
chr22:37271882	func	intronic,missense
chr22:37271882	transcript	NM_000631,NM_013416
chr22:37271882	genomic	.,g.815T>C
chr22:37271882	codon	.,c.815CTG>CCG
chr22:37271882	protein	.,p.272L>P
chr22:37271882	worst	missense
chr22:37271882	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37271882	nvar	1
chr22:37271882	var	chr22:37271882:T/C
chr22:37272186	allele_ref	G
chr22:37272186	allele_alt	A
chr22:37272186	seqdb_ref	G
chr22:37272186	snp_fw_seq3	AGC/AAC
chr22:37272186	snp_rv_seq3	GCT/GTT
chr22:37272186	func	intronic,intronic
chr22:37272186	transcript	NM_000631,NM_013416
chr22:37272186	genomic	.,.
chr22:37272186	codon	.,.
chr22:37272186	protein	.,.
chr22:37272186	worst	intronic
chr22:37272186	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37272186	nvar	1
chr22:37272186	var	chr22:37272186:G/A
chr22:37273742	allele_ref	G
chr22:37273742	allele_alt	A
chr22:37273742	seqdb_ref	G
chr22:37273742	snp_fw_seq3	CGG/CAG
chr22:37273742	snp_rv_seq3	CCG/CTG
chr22:37273742	func	silent,3-UTR
chr22:37273742	transcript	NM_000631,NM_013416
chr22:37273742	genomic	.,.
chr22:37273742	codon	.,.
chr22:37273742	protein	.,.
chr22:37273742	worst	silent
chr22:37273742	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:37273742	nvar	1
chr22:37273742	var	chr22:37273742:G/A
chr22:37273805	allele_ref	C
chr22:37273805	allele_alt	T
chr22:37273805	seqdb_ref	C
chr22:37273805	snp_fw_seq3	TCC/TTC
chr22:37273805	snp_rv_seq3	GGA/GAA
chr22:37273805	func	silent,3-UTR
chr22:37273805	transcript	NM_000631,NM_013416
chr22:37273805	genomic	.,.
chr22:37273805	codon	.,.
chr22:37273805	protein	.,.
chr22:37273805	worst	silent
chr22:37273805	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:37273805	nvar	1
chr22:37273805	var	chr22:37273805:C/T
chr22:37273856	allele_ref	G
chr22:37273856	allele_alt	A
chr22:37273856	seqdb_ref	G
chr22:37273856	snp_fw_seq3	CGA/CAA
chr22:37273856	snp_rv_seq3	TCG/TTG
chr22:37273856	func	silent,3-UTR
chr22:37273856	transcript	NM_000631,NM_013416
chr22:37273856	genomic	.,.
chr22:37273856	codon	.,.
chr22:37273856	protein	.,.
chr22:37273856	worst	silent
chr22:37273856	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:37273856	nvar	1
chr22:37273856	var	chr22:37273856:G/A
chr22:37319425	allele_ref	G
chr22:37319425	allele_alt	T
chr22:37319425	seqdb_ref	G
chr22:37319425	snp_fw_seq3	GGG/GTG
chr22:37319425	snp_rv_seq3	CCC/CAC
chr22:37319425	func	intronic
chr22:37319425	transcript	NM_000395
chr22:37319425	genomic	.
chr22:37319425	codon	.
chr22:37319425	protein	.
chr22:37319425	worst	intronic
chr22:37319425	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37319425	nvar	1
chr22:37319425	var	chr22:37319425:G/T
chr22:37319436	allele_ref	C
chr22:37319436	allele_alt	G
chr22:37319436	seqdb_ref	C
chr22:37319436	snp_fw_seq3	ACG/AGG
chr22:37319436	snp_rv_seq3	CGT/CCT
chr22:37319436	func	intronic
chr22:37319436	transcript	NM_000395
chr22:37319436	genomic	.
chr22:37319436	codon	.
chr22:37319436	protein	.
chr22:37319436	worst	intronic
chr22:37319436	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37319436	nvar	1
chr22:37319436	var	chr22:37319436:C/G
chr22:37325405	allele_ref	G
chr22:37325405	allele_alt	A
chr22:37325405	seqdb_ref	G
chr22:37325405	snp_fw_seq3	CGG/CAG
chr22:37325405	snp_rv_seq3	CCG/CTG
chr22:37325405	func	intronic
chr22:37325405	transcript	NM_000395
chr22:37325405	genomic	.
chr22:37325405	codon	.
chr22:37325405	protein	.
chr22:37325405	worst	intronic
chr22:37325405	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37325405	nvar	1
chr22:37325405	var	chr22:37325405:G/A
chr22:37325703	allele_ref	A
chr22:37325703	allele_alt	G
chr22:37325703	seqdb_ref	A
chr22:37325703	snp_fw_seq3	AAC/AGC
chr22:37325703	snp_rv_seq3	GTT/GCT
chr22:37325703	func	missense
chr22:37325703	transcript	NM_000395
chr22:37325703	genomic	g.572A>G
chr22:37325703	codon	c.572AAC>AGC
chr22:37325703	protein	p.191N>S
chr22:37325703	worst	missense
chr22:37325703	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37325703	nvar	1
chr22:37325703	var	chr22:37325703:A/G
chr22:37325833	allele_ref	C
chr22:37325833	allele_alt	T
chr22:37325833	seqdb_ref	C
chr22:37325833	snp_fw_seq3	GCT/GTT
chr22:37325833	snp_rv_seq3	AGC/AAC
chr22:37325833	func	silent
chr22:37325833	transcript	NM_000395
chr22:37325833	genomic	.
chr22:37325833	codon	.
chr22:37325833	protein	.
chr22:37325833	worst	silent
chr22:37325833	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37325833	nvar	1
chr22:37325833	var	chr22:37325833:C/T
chr22:37326443	allele_ref	G
chr22:37326443	allele_alt	C
chr22:37326443	seqdb_ref	G
chr22:37326443	snp_fw_seq3	GGA/GCA
chr22:37326443	snp_rv_seq3	TCC/TGC
chr22:37326443	func	missense
chr22:37326443	transcript	NM_000395
chr22:37326443	genomic	g.745G>C
chr22:37326443	codon	c.745GAG>CAG
chr22:37326443	protein	p.249E>Q
chr22:37326443	worst	missense
chr22:37326443	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37326443	nvar	1
chr22:37326443	var	chr22:37326443:G/C
chr22:37328966	allele_ref	G
chr22:37328966	allele_alt	C
chr22:37328966	seqdb_ref	G
chr22:37328966	snp_fw_seq3	GGA/GCA
chr22:37328966	snp_rv_seq3	TCC/TGC
chr22:37328966	func	intronic
chr22:37328966	transcript	NM_000395
chr22:37328966	genomic	.
chr22:37328966	codon	.
chr22:37328966	protein	.
chr22:37328966	worst	intronic
chr22:37328966	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37328966	nvar	1
chr22:37328966	var	chr22:37328966:G/C
chr22:37328968	allele_ref	G
chr22:37328968	allele_alt	C
chr22:37328968	seqdb_ref	G
chr22:37328968	snp_fw_seq3	AGG/ACG
chr22:37328968	snp_rv_seq3	CCT/CGT
chr22:37328968	func	intronic
chr22:37328968	transcript	NM_000395
chr22:37328968	genomic	.
chr22:37328968	codon	.
chr22:37328968	protein	.
chr22:37328968	worst	intronic
chr22:37328968	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37328968	nvar	1
chr22:37328968	var	chr22:37328968:G/C
chr22:37329861	allele_ref	T
chr22:37329861	allele_alt	C
chr22:37329861	seqdb_ref	T
chr22:37329861	snp_fw_seq3	GTG/GCG
chr22:37329861	snp_rv_seq3	CAC/CGC
chr22:37329861	func	intronic
chr22:37329861	transcript	NM_000395
chr22:37329861	genomic	.
chr22:37329861	codon	.
chr22:37329861	protein	.
chr22:37329861	worst	intronic
chr22:37329861	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37329861	nvar	1
chr22:37329861	var	chr22:37329861:T/C
chr22:37329999	allele_ref	C
chr22:37329999	allele_alt	T
chr22:37329999	seqdb_ref	C
chr22:37329999	snp_fw_seq3	GCG/GTG
chr22:37329999	snp_rv_seq3	CGC/CAC
chr22:37329999	func	silent
chr22:37329999	transcript	NM_000395
chr22:37329999	genomic	.
chr22:37329999	codon	.
chr22:37329999	protein	.
chr22:37329999	worst	silent
chr22:37329999	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37329999	nvar	1
chr22:37329999	var	chr22:37329999:C/T
chr22:37330074	allele_ref	C
chr22:37330074	allele_alt	T
chr22:37330074	seqdb_ref	C
chr22:37330074	snp_fw_seq3	ACC/ATC
chr22:37330074	snp_rv_seq3	GGT/GAT
chr22:37330074	func	intronic
chr22:37330074	transcript	NM_000395
chr22:37330074	genomic	.
chr22:37330074	codon	.
chr22:37330074	protein	.
chr22:37330074	worst	intronic
chr22:37330074	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37330074	nvar	1
chr22:37330074	var	chr22:37330074:C/T
chr22:37330082	allele_ref	T
chr22:37330082	allele_alt	C
chr22:37330082	seqdb_ref	T
chr22:37330082	snp_fw_seq3	ATA/ACA
chr22:37330082	snp_rv_seq3	TAT/TGT
chr22:37330082	func	intronic
chr22:37330082	transcript	NM_000395
chr22:37330082	genomic	.
chr22:37330082	codon	.
chr22:37330082	protein	.
chr22:37330082	worst	intronic
chr22:37330082	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37330082	nvar	1
chr22:37330082	var	chr22:37330082:T/C
chr22:37331351	allele_ref	G
chr22:37331351	allele_alt	A
chr22:37331351	seqdb_ref	G
chr22:37331351	snp_fw_seq3	CGC/CAC
chr22:37331351	snp_rv_seq3	GCG/GTG
chr22:37331351	func	intronic
chr22:37331351	transcript	NM_000395
chr22:37331351	genomic	.
chr22:37331351	codon	.
chr22:37331351	protein	.
chr22:37331351	worst	intronic
chr22:37331351	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37331351	nvar	1
chr22:37331351	var	chr22:37331351:G/A
chr22:37331455	allele_ref	C
chr22:37331455	allele_alt	G
chr22:37331455	seqdb_ref	C
chr22:37331455	snp_fw_seq3	CCT/CGT
chr22:37331455	snp_rv_seq3	AGG/ACG
chr22:37331455	func	missense
chr22:37331455	transcript	NM_000395
chr22:37331455	genomic	g.1378C>G
chr22:37331455	codon	c.1378CTC>GTC
chr22:37331455	protein	p.460L>V
chr22:37331455	worst	missense
chr22:37331455	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37331455	nvar	1
chr22:37331455	var	chr22:37331455:C/G
chr22:37331746	allele_ref	A
chr22:37331746	allele_alt	T
chr22:37331746	seqdb_ref	A
chr22:37331746	snp_fw_seq3	GAG/GTG
chr22:37331746	snp_rv_seq3	CTC/CAC
chr22:37331746	func	intronic
chr22:37331746	transcript	NM_000395
chr22:37331746	genomic	.
chr22:37331746	codon	.
chr22:37331746	protein	.
chr22:37331746	worst	intronic
chr22:37331746	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37331746	nvar	1
chr22:37331746	var	chr22:37331746:A/T
chr22:37332560	allele_ref	C
chr22:37332560	allele_alt	T
chr22:37332560	seqdb_ref	C
chr22:37332560	snp_fw_seq3	GCT/GTT
chr22:37332560	snp_rv_seq3	AGC/AAC
chr22:37332560	func	intronic
chr22:37332560	transcript	NM_000395
chr22:37332560	genomic	.
chr22:37332560	codon	.
chr22:37332560	protein	.
chr22:37332560	worst	intronic
chr22:37332560	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37332560	nvar	1
chr22:37332560	var	chr22:37332560:C/T
chr22:37333406	allele_ref	T
chr22:37333406	allele_alt	G
chr22:37333406	seqdb_ref	T
chr22:37333406	snp_fw_seq3	TTT/TGT
chr22:37333406	snp_rv_seq3	AAA/ACA
chr22:37333406	func	intronic
chr22:37333406	transcript	NM_000395
chr22:37333406	genomic	.
chr22:37333406	codon	.
chr22:37333406	protein	.
chr22:37333406	worst	intronic
chr22:37333406	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37333406	nvar	1
chr22:37333406	var	chr22:37333406:T/G
chr22:37333794	allele_ref	A
chr22:37333794	allele_alt	G
chr22:37333794	seqdb_ref	A
chr22:37333794	snp_fw_seq3	CAG/CGG
chr22:37333794	snp_rv_seq3	CTG/CCG
chr22:37333794	func	silent
chr22:37333794	transcript	NM_000395
chr22:37333794	genomic	.
chr22:37333794	codon	.
chr22:37333794	protein	.
chr22:37333794	worst	silent
chr22:37333794	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37333794	nvar	1
chr22:37333794	var	chr22:37333794:A/G
chr22:37333804	allele_ref	G
chr22:37333804	allele_alt	A
chr22:37333804	seqdb_ref	G
chr22:37333804	snp_fw_seq3	CGT/CAT
chr22:37333804	snp_rv_seq3	ACG/ATG
chr22:37333804	func	missense
chr22:37333804	transcript	NM_000395
chr22:37333804	genomic	g.1954G>A
chr22:37333804	codon	c.1954GTG>ATG
chr22:37333804	protein	p.652V>M
chr22:37333804	worst	missense
chr22:37333804	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37333804	nvar	1
chr22:37333804	var	chr22:37333804:G/A
chr22:37333936	allele_ref	C
chr22:37333936	allele_alt	T
chr22:37333936	seqdb_ref	C
chr22:37333936	snp_fw_seq3	ACC/ATC
chr22:37333936	snp_rv_seq3	GGT/GAT
chr22:37333936	func	missense
chr22:37333936	transcript	NM_000395
chr22:37333936	genomic	g.2086C>T
chr22:37333936	codon	c.2086CCC>TCC
chr22:37333936	protein	p.696P>S
chr22:37333936	worst	missense
chr22:37333936	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37333936	nvar	1
chr22:37333936	var	chr22:37333936:C/T
chr22:37334280	allele_ref	C
chr22:37334280	allele_alt	A
chr22:37334280	seqdb_ref	C
chr22:37334280	snp_fw_seq3	CCG/CAG
chr22:37334280	snp_rv_seq3	CGG/CTG
chr22:37334280	func	silent
chr22:37334280	transcript	NM_000395
chr22:37334280	genomic	.
chr22:37334280	codon	.
chr22:37334280	protein	.
chr22:37334280	worst	silent
chr22:37334280	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37334280	nvar	1
chr22:37334280	var	chr22:37334280:C/A
chr22:37334352	allele_ref	G
chr22:37334352	allele_alt	T
chr22:37334352	seqdb_ref	G
chr22:37334352	snp_fw_seq3	CGC/CTC
chr22:37334352	snp_rv_seq3	GCG/GAG
chr22:37334352	func	silent
chr22:37334352	transcript	NM_000395
chr22:37334352	genomic	.
chr22:37334352	codon	.
chr22:37334352	protein	.
chr22:37334352	worst	silent
chr22:37334352	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37334352	nvar	1
chr22:37334352	var	chr22:37334352:G/T
chr22:37387257	allele_ref	T
chr22:37387257	allele_alt	C
chr22:37387257	seqdb_ref	T
chr22:37387257	snp_fw_seq3	ATA/ACA
chr22:37387257	snp_rv_seq3	TAT/TGT
chr22:37387257	func	missense,missense
chr22:37387257	transcript	NM_001163857,NM_178552
chr22:37387257	genomic	g.806T>C,g.551T>C
chr22:37387257	codon	c.806TAT>TGT,c.551TAT>TGT
chr22:37387257	protein	p.269Y>C,p.184Y>C
chr22:37387257	worst	missense
chr22:37387257	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37387257	nvar	1
chr22:37387257	var	chr22:37387257:T/C
chr22:37387283	allele_ref	G
chr22:37387283	allele_alt	A
chr22:37387283	seqdb_ref	G
chr22:37387283	snp_fw_seq3	AGT/AAT
chr22:37387283	snp_rv_seq3	ACT/ATT
chr22:37387283	func	silent,silent
chr22:37387283	transcript	NM_001163857,NM_178552
chr22:37387283	genomic	.,.
chr22:37387283	codon	.,.
chr22:37387283	protein	.,.
chr22:37387283	worst	silent
chr22:37387283	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37387283	nvar	1
chr22:37387283	var	chr22:37387283:G/A
chr22:37387475	allele_ref	G
chr22:37387475	allele_alt	A
chr22:37387475	seqdb_ref	G
chr22:37387475	snp_fw_seq3	TGG/TAG
chr22:37387475	snp_rv_seq3	CCA/CTA
chr22:37387475	func	intronic,intronic
chr22:37387475	transcript	NM_001163857,NM_178552
chr22:37387475	genomic	.,.
chr22:37387475	codon	.,.
chr22:37387475	protein	.,.
chr22:37387475	worst	intronic
chr22:37387475	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37387475	nvar	1
chr22:37387475	var	chr22:37387475:G/A
chr22:37387505	allele_ref	C
chr22:37387505	allele_alt	A
chr22:37387505	seqdb_ref	C
chr22:37387505	snp_fw_seq3	CCG/CAG
chr22:37387505	snp_rv_seq3	CGG/CTG
chr22:37387505	func	intronic,intronic
chr22:37387505	transcript	NM_001163857,NM_178552
chr22:37387505	genomic	.,.
chr22:37387505	codon	.,.
chr22:37387505	protein	.,.
chr22:37387505	worst	intronic
chr22:37387505	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37387505	nvar	1
chr22:37387505	var	chr22:37387505:C/A
chr22:37396024	allele_ref	G
chr22:37396024	allele_alt	C
chr22:37396024	seqdb_ref	G
chr22:37396024	snp_fw_seq3	AGC/ACC
chr22:37396024	snp_rv_seq3	GCT/GGT
chr22:37396024	func	splice,missense,splice,missense
chr22:37396024	annot_details	DIST=-1,NMD=0,OFPTV=1,EXIN=4,ISEQ=GACTCG,ESEQ=AACTCG,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS4+-1C>G,DIST=-1,NMD=0,OFPTV=1,EXIN=4,ISEQ=GACTCG,ESEQ=AACTCG,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS4+-1C>G
chr22:37396024	transcript	NM_001163857,NM_001163857,NM_178552,NM_178552
chr22:37396024	genomic	.,g.491G>C,.,g.236G>C
chr22:37396024	codon	.,c.491GCT>GGT,.,c.236GCT>GGT
chr22:37396024	protein	.,p.164A>G,.,p.79A>G
chr22:37396024	worst	missense
chr22:37396024	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37396024	nvar	1
chr22:37396024	var	chr22:37396024:G/C
chr22:37396053	allele_ref	A
chr22:37396053	allele_alt	G
chr22:37396053	seqdb_ref	A
chr22:37396053	snp_fw_seq3	CAG/CGG
chr22:37396053	snp_rv_seq3	CTG/CCG
chr22:37396053	func	intronic,intronic
chr22:37396053	transcript	NM_001163857,NM_178552
chr22:37396053	genomic	.,.
chr22:37396053	codon	.,.
chr22:37396053	protein	.,.
chr22:37396053	worst	intronic
chr22:37396053	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37396053	nvar	1
chr22:37396053	var	chr22:37396053:A/G
chr22:37396054	allele_ref	G
chr22:37396054	allele_alt	A
chr22:37396054	seqdb_ref	G
chr22:37396054	snp_fw_seq3	AGG/AAG
chr22:37396054	snp_rv_seq3	CCT/CTT
chr22:37396054	func	intronic,intronic
chr22:37396054	transcript	NM_001163857,NM_178552
chr22:37396054	genomic	.,.
chr22:37396054	codon	.,.
chr22:37396054	protein	.,.
chr22:37396054	worst	intronic
chr22:37396054	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37396054	nvar	1
chr22:37396054	var	chr22:37396054:G/A
chr22:37397896	allele_ref	C
chr22:37397896	allele_alt	T
chr22:37397896	seqdb_ref	C
chr22:37397896	snp_fw_seq3	GCT/GTT
chr22:37397896	snp_rv_seq3	AGC/AAC
chr22:37397896	func	silent,silent
chr22:37397896	transcript	NM_001163857,NM_178552
chr22:37397896	genomic	.,.
chr22:37397896	codon	.,.
chr22:37397896	protein	.,.
chr22:37397896	worst	silent
chr22:37397896	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37397896	nvar	1
chr22:37397896	var	chr22:37397896:C/T
chr22:37407170	allele_ref	G
chr22:37407170	allele_alt	A
chr22:37407170	seqdb_ref	G
chr22:37407170	snp_fw_seq3	CGC/CAC
chr22:37407170	snp_rv_seq3	GCG/GTG
chr22:37407170	func	silent
chr22:37407170	transcript	NM_003312
chr22:37407170	genomic	.
chr22:37407170	codon	.
chr22:37407170	protein	.
chr22:37407170	worst	silent
chr22:37407170	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37407170	nvar	1
chr22:37407170	var	chr22:37407170:G/A
chr22:37407346	allele_ref	G
chr22:37407346	allele_alt	A
chr22:37407346	seqdb_ref	G
chr22:37407346	snp_fw_seq3	CGG/CAG
chr22:37407346	snp_rv_seq3	CCG/CTG
chr22:37407346	func	missense
chr22:37407346	transcript	NM_003312
chr22:37407346	genomic	g.616G>A
chr22:37407346	codon	c.616CGT>TGT
chr22:37407346	protein	p.206R>C
chr22:37407346	worst	missense
chr22:37407346	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37407346	nvar	1
chr22:37407346	var	chr22:37407346:G/A
chr22:37414326	allele_ref	G
chr22:37414326	allele_alt	A
chr22:37414326	seqdb_ref	G
chr22:37414326	snp_fw_seq3	GGT/GAT
chr22:37414326	snp_rv_seq3	ACC/ATC
chr22:37414326	func	missense
chr22:37414326	transcript	NM_003312
chr22:37414326	genomic	g.448G>A
chr22:37414326	codon	c.448CCG>TCG
chr22:37414326	protein	p.150P>S
chr22:37414326	worst	missense
chr22:37414326	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37414326	nvar	1
chr22:37414326	var	chr22:37414326:G/A
chr22:37414468	allele_ref	T
chr22:37414468	allele_alt	G
chr22:37414468	seqdb_ref	T
chr22:37414468	snp_fw_seq3	GTT/GGT
chr22:37414468	snp_rv_seq3	AAC/ACC
chr22:37414468	func	missense
chr22:37414468	transcript	NM_003312
chr22:37414468	genomic	g.306T>G
chr22:37414468	codon	c.306GAA>GAC
chr22:37414468	protein	p.102E>D
chr22:37414468	worst	missense
chr22:37414468	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37414468	nvar	1
chr22:37414468	var	chr22:37414468:T/G
chr22:37414801	allele_ref	C
chr22:37414801	allele_alt	T
chr22:37414801	seqdb_ref	C
chr22:37414801	snp_fw_seq3	ACG/ATG
chr22:37414801	snp_rv_seq3	CGT/CAT
chr22:37414801	func	intronic
chr22:37414801	transcript	NM_003312
chr22:37414801	genomic	.
chr22:37414801	codon	.
chr22:37414801	protein	.
chr22:37414801	worst	intronic
chr22:37414801	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37414801	nvar	1
chr22:37414801	var	chr22:37414801:C/T
chr22:37420890	allele_ref	C
chr22:37420890	allele_alt	T
chr22:37420890	seqdb_ref	C
chr22:37420890	snp_fw_seq3	GCG/GTG
chr22:37420890	snp_rv_seq3	CGC/CAC
chr22:37420890	func	intronic,intronic,intronic
chr22:37420890	transcript	NM_001013436,NM_001130517,NM_021126
chr22:37420890	genomic	.,.,.
chr22:37420890	codon	.,.,.
chr22:37420890	protein	.,.,.
chr22:37420890	worst	intronic
chr22:37420890	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37420890	nvar	1
chr22:37420890	var	chr22:37420890:C/T
chr22:37425564	allele_ref	A
chr22:37425564	allele_alt	G
chr22:37425564	seqdb_ref	A
chr22:37425564	snp_fw_seq3	CAG/CGG
chr22:37425564	snp_rv_seq3	CTG/CCG
chr22:37425564	func	3-UTR,3-UTR,3-UTR
chr22:37425564	transcript	NM_001013436,NM_001130517,NM_021126
chr22:37425564	genomic	.,.,.
chr22:37425564	codon	.,.,.
chr22:37425564	protein	.,.,.
chr22:37425564	worst	UTR3
chr22:37425564	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=3,npcRNA=0
chr22:37425564	nvar	1
chr22:37425564	var	chr22:37425564:A/G
chr22:37425591	allele_ref	G
chr22:37425591	allele_alt	A
chr22:37425591	seqdb_ref	G
chr22:37425591	snp_fw_seq3	CGG/CAG
chr22:37425591	snp_rv_seq3	CCG/CTG
chr22:37425591	func	3-UTR,3-UTR,3-UTR
chr22:37425591	transcript	NM_001013436,NM_001130517,NM_021126
chr22:37425591	genomic	.,.,.
chr22:37425591	codon	.,.,.
chr22:37425591	protein	.,.,.
chr22:37425591	worst	UTR3
chr22:37425591	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=3,npcRNA=0
chr22:37425591	nvar	1
chr22:37425591	var	chr22:37425591:G/A
chr22:37452397	allele_ref	G
chr22:37452397	allele_alt	A
chr22:37452397	seqdb_ref	G
chr22:37452397	snp_fw_seq3	CGC/CAC
chr22:37452397	snp_rv_seq3	GCG/GTG
chr22:37452397	func	silent
chr22:37452397	transcript	NM_024681
chr22:37452397	genomic	.
chr22:37452397	codon	.
chr22:37452397	protein	.
chr22:37452397	worst	silent
chr22:37452397	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37452397	nvar	1
chr22:37452397	var	chr22:37452397:G/A
chr22:37453452	allele_ref	C
chr22:37453452	allele_alt	T
chr22:37453452	seqdb_ref	C
chr22:37453452	snp_fw_seq3	ACG/ATG
chr22:37453452	snp_rv_seq3	CGT/CAT
chr22:37453452	func	silent
chr22:37453452	transcript	NM_024681
chr22:37453452	genomic	.
chr22:37453452	codon	.
chr22:37453452	protein	.
chr22:37453452	worst	silent
chr22:37453452	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37453452	nvar	1
chr22:37453452	var	chr22:37453452:C/T
chr22:37453538	allele_ref	G
chr22:37453538	allele_alt	A
chr22:37453538	seqdb_ref	G
chr22:37453538	snp_fw_seq3	CGC/CAC
chr22:37453538	snp_rv_seq3	GCG/GTG
chr22:37453538	func	intronic,splice
chr22:37453538	annot_details	DIST=5,NMD=0,OFPTV=1,EXIN=4,ISEQ=GTGCGC,ESEQ=GAGCAG,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS4+5G>A
chr22:37453538	transcript	NM_024681,NM_024681
chr22:37453538	genomic	.,.
chr22:37453538	codon	.,.
chr22:37453538	protein	.,.
chr22:37453538	worst	splice
chr22:37453538	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37453538	nvar	1
chr22:37453538	var	chr22:37453538:G/A
chr22:37455303	allele_ref	C
chr22:37455303	allele_alt	T
chr22:37455303	seqdb_ref	C
chr22:37455303	snp_fw_seq3	ACG/ATG
chr22:37455303	snp_rv_seq3	CGT/CAT
chr22:37455303	func	intronic
chr22:37455303	transcript	NM_024681
chr22:37455303	genomic	.
chr22:37455303	codon	.
chr22:37455303	protein	.
chr22:37455303	worst	intronic
chr22:37455303	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37455303	nvar	1
chr22:37455303	var	chr22:37455303:C/T
chr22:37455512	allele_ref	A
chr22:37455512	allele_alt	G
chr22:37455512	seqdb_ref	A
chr22:37455512	snp_fw_seq3	AAG/AGG
chr22:37455512	snp_rv_seq3	CTT/CCT
chr22:37455512	func	intronic
chr22:37455512	transcript	NM_024681
chr22:37455512	genomic	.
chr22:37455512	codon	.
chr22:37455512	protein	.
chr22:37455512	worst	intronic
chr22:37455512	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37455512	nvar	1
chr22:37455512	var	chr22:37455512:A/G
chr22:37457585	allele_ref	G
chr22:37457585	allele_alt	A
chr22:37457585	seqdb_ref	G
chr22:37457585	snp_fw_seq3	CGT/CAT
chr22:37457585	snp_rv_seq3	ACG/ATG
chr22:37457585	func	missense
chr22:37457585	transcript	NM_024681
chr22:37457585	genomic	g.740G>A
chr22:37457585	codon	c.740CGT>CAT
chr22:37457585	protein	p.247R>H
chr22:37457585	worst	missense
chr22:37457585	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37457585	nvar	1
chr22:37457585	var	chr22:37457585:G/A
chr22:37458668	allele_ref	G
chr22:37458668	allele_alt	A
chr22:37458668	seqdb_ref	G
chr22:37458668	snp_fw_seq3	CGG/CAG
chr22:37458668	snp_rv_seq3	CCG/CTG
chr22:37458668	func	3-UTR
chr22:37458668	transcript	NM_024681
chr22:37458668	genomic	.
chr22:37458668	codon	.
chr22:37458668	protein	.
chr22:37458668	worst	UTR3
chr22:37458668	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:37458668	nvar	1
chr22:37458668	var	chr22:37458668:G/A
chr22:37462210	allele_ref	G
chr22:37462210	allele_alt	A
chr22:37462210	seqdb_ref	G
chr22:37462210	snp_fw_seq3	AGC/AAC
chr22:37462210	snp_rv_seq3	GCT/GTT
chr22:37462210	func	silent
chr22:37462210	transcript	NM_153609
chr22:37462210	genomic	.
chr22:37462210	codon	.
chr22:37462210	protein	.
chr22:37462210	worst	silent
chr22:37462210	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37462210	nvar	1
chr22:37462210	var	chr22:37462210:G/A
chr22:37462926	allele_ref	G
chr22:37462926	allele_alt	A
chr22:37462926	seqdb_ref	G
chr22:37462926	snp_fw_seq3	GGT/GAT
chr22:37462926	snp_rv_seq3	ACC/ATC
chr22:37462926	func	silent
chr22:37462926	transcript	NM_153609
chr22:37462926	genomic	.
chr22:37462926	codon	.
chr22:37462926	protein	.
chr22:37462926	worst	silent
chr22:37462926	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37462926	nvar	1
chr22:37462926	var	chr22:37462926:G/A
chr22:37462936	allele_ref	A
chr22:37462936	allele_alt	G
chr22:37462936	seqdb_ref	A
chr22:37462936	snp_fw_seq3	GAC/GGC
chr22:37462936	snp_rv_seq3	GTC/GCC
chr22:37462936	func	missense
chr22:37462936	transcript	NM_153609
chr22:37462936	genomic	g.2207A>G
chr22:37462936	codon	c.2207GTC>GCC
chr22:37462936	protein	p.736V>A
chr22:37462936	worst	missense
chr22:37462936	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37462936	nvar	1
chr22:37462936	var	chr22:37462936:A/G
chr22:37462998	allele_ref	G
chr22:37462998	allele_alt	A
chr22:37462998	seqdb_ref	G
chr22:37462998	snp_fw_seq3	TGG/TAG
chr22:37462998	snp_rv_seq3	CCA/CTA
chr22:37462998	func	silent,splice
chr22:37462998	annot_details	DIST=-4,NMD=0,OFPTV=0,EXIN=17,ISEQ=GACAGG,ESEQ=ACCCCG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS17+-4C>T
chr22:37462998	transcript	NM_153609,NM_153609
chr22:37462998	genomic	.,.
chr22:37462998	codon	.,.
chr22:37462998	protein	.,.
chr22:37462998	worst	splice
chr22:37462998	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37462998	nvar	1
chr22:37462998	var	chr22:37462998:G/A
chr22:37465094	allele_ref	G
chr22:37465094	allele_alt	A
chr22:37465094	seqdb_ref	G
chr22:37465094	snp_fw_seq3	CGC/CAC
chr22:37465094	snp_rv_seq3	GCG/GTG
chr22:37465094	func	intronic
chr22:37465094	transcript	NM_153609
chr22:37465094	genomic	.
chr22:37465094	codon	.
chr22:37465094	protein	.
chr22:37465094	worst	intronic
chr22:37465094	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37465094	nvar	1
chr22:37465094	var	chr22:37465094:G/A
chr22:37466493	allele_ref	A
chr22:37466493	allele_alt	G
chr22:37466493	seqdb_ref	A
chr22:37466493	snp_fw_seq3	TAC/TGC
chr22:37466493	snp_rv_seq3	GTA/GCA
chr22:37466493	func	intronic
chr22:37466493	transcript	NM_153609
chr22:37466493	genomic	.
chr22:37466493	codon	.
chr22:37466493	protein	.
chr22:37466493	worst	intronic
chr22:37466493	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37466493	nvar	1
chr22:37466493	var	chr22:37466493:A/G
chr22:37466930	allele_ref	G
chr22:37466930	allele_alt	A
chr22:37466930	seqdb_ref	G
chr22:37466930	snp_fw_seq3	GGG/GAG
chr22:37466930	snp_rv_seq3	CCC/CTC
chr22:37466930	func	intronic
chr22:37466930	transcript	NM_153609
chr22:37466930	genomic	.
chr22:37466930	codon	.
chr22:37466930	protein	.
chr22:37466930	worst	intronic
chr22:37466930	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37466930	nvar	1
chr22:37466930	var	chr22:37466930:G/A
chr22:37467106	allele_ref	G
chr22:37467106	allele_alt	A
chr22:37467106	seqdb_ref	G
chr22:37467106	snp_fw_seq3	AGG/AAG
chr22:37467106	snp_rv_seq3	CCT/CTT
chr22:37467106	func	intronic
chr22:37467106	transcript	NM_153609
chr22:37467106	genomic	.
chr22:37467106	codon	.
chr22:37467106	protein	.
chr22:37467106	worst	intronic
chr22:37467106	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37467106	nvar	1
chr22:37467106	var	chr22:37467106:G/A
chr22:37469591	allele_ref	G
chr22:37469591	allele_alt	A
chr22:37469591	seqdb_ref	G
chr22:37469591	snp_fw_seq3	CGT/CAT
chr22:37469591	snp_rv_seq3	ACG/ATG
chr22:37469591	func	silent
chr22:37469591	transcript	NM_153609
chr22:37469591	genomic	.
chr22:37469591	codon	.
chr22:37469591	protein	.
chr22:37469591	worst	silent
chr22:37469591	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37469591	nvar	1
chr22:37469591	var	chr22:37469591:G/A
chr22:37470604	allele_ref	G
chr22:37470604	allele_alt	A
chr22:37470604	seqdb_ref	G
chr22:37470604	snp_fw_seq3	AGA/AAA
chr22:37470604	snp_rv_seq3	TCT/TTT
chr22:37470604	func	intronic
chr22:37470604	transcript	NM_153609
chr22:37470604	genomic	.
chr22:37470604	codon	.
chr22:37470604	protein	.
chr22:37470604	worst	intronic
chr22:37470604	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37470604	nvar	1
chr22:37470604	var	chr22:37470604:G/A
chr22:37470635	allele_ref	G
chr22:37470635	allele_alt	A
chr22:37470635	seqdb_ref	G
chr22:37470635	snp_fw_seq3	CGG/CAG
chr22:37470635	snp_rv_seq3	CCG/CTG
chr22:37470635	func	intronic
chr22:37470635	transcript	NM_153609
chr22:37470635	genomic	.
chr22:37470635	codon	.
chr22:37470635	protein	.
chr22:37470635	worst	intronic
chr22:37470635	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37470635	nvar	1
chr22:37470635	var	chr22:37470635:G/A
chr22:37480797	allele_ref	C
chr22:37480797	allele_alt	T
chr22:37480797	seqdb_ref	C
chr22:37480797	snp_fw_seq3	GCG/GTG
chr22:37480797	snp_rv_seq3	CGC/CAC
chr22:37480797	func	silent
chr22:37480797	transcript	NM_153609
chr22:37480797	genomic	.
chr22:37480797	codon	.
chr22:37480797	protein	.
chr22:37480797	worst	silent
chr22:37480797	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37480797	nvar	1
chr22:37480797	var	chr22:37480797:C/T
chr22:37482336	allele_ref	C
chr22:37482336	allele_alt	T
chr22:37482336	seqdb_ref	C
chr22:37482336	snp_fw_seq3	CCG/CTG
chr22:37482336	snp_rv_seq3	CGG/CAG
chr22:37482336	func	silent
chr22:37482336	transcript	NM_153609
chr22:37482336	genomic	.
chr22:37482336	codon	.
chr22:37482336	protein	.
chr22:37482336	worst	silent
chr22:37482336	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37482336	nvar	1
chr22:37482336	var	chr22:37482336:C/T
chr22:37485595	allele_ref	T
chr22:37485595	allele_alt	C
chr22:37485595	seqdb_ref	T
chr22:37485595	snp_fw_seq3	CTG/CCG
chr22:37485595	snp_rv_seq3	CAG/CGG
chr22:37485595	func	intronic
chr22:37485595	transcript	NM_153609
chr22:37485595	genomic	.
chr22:37485595	codon	.
chr22:37485595	protein	.
chr22:37485595	worst	intronic
chr22:37485595	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37485595	nvar	1
chr22:37485595	var	chr22:37485595:T/C
chr22:37485618	allele_ref	G
chr22:37485618	allele_alt	A
chr22:37485618	seqdb_ref	G
chr22:37485618	snp_fw_seq3	CGA/CAA
chr22:37485618	snp_rv_seq3	TCG/TTG
chr22:37485618	func	splice,missense
chr22:37485618	annot_details	DIST=0,NMD=0,OFPTV=1,EXIN=7,ISEQ=TGAGTG,ESEQ=CTCCAC,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS7+0C>T
chr22:37485618	transcript	NM_153609,NM_153609
chr22:37485618	genomic	.,g.863G>A
chr22:37485618	codon	.,c.863TCG>TTG
chr22:37485618	protein	.,p.288S>L
chr22:37485618	worst	missense
chr22:37485618	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37485618	nvar	1
chr22:37485618	var	chr22:37485618:G/A
chr22:37485724	allele_ref	T
chr22:37485724	allele_alt	C
chr22:37485724	seqdb_ref	T
chr22:37485724	snp_fw_seq3	TTG/TCG
chr22:37485724	snp_rv_seq3	CAA/CGA
chr22:37485724	func	missense
chr22:37485724	transcript	NM_153609
chr22:37485724	genomic	g.757T>C
chr22:37485724	codon	c.757AAG>GAG
chr22:37485724	protein	p.253K>E
chr22:37485724	worst	missense
chr22:37485724	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37485724	nvar	1
chr22:37485724	var	chr22:37485724:T/C
chr22:37491545	allele_ref	T
chr22:37491545	allele_alt	C
chr22:37491545	seqdb_ref	T
chr22:37491545	snp_fw_seq3	ATG/ACG
chr22:37491545	snp_rv_seq3	CAT/CGT
chr22:37491545	func	intronic
chr22:37491545	transcript	NM_153609
chr22:37491545	genomic	.
chr22:37491545	codon	.
chr22:37491545	protein	.
chr22:37491545	worst	intronic
chr22:37491545	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37491545	nvar	1
chr22:37491545	var	chr22:37491545:T/C
chr22:37491956	allele_ref	T
chr22:37491956	allele_alt	G
chr22:37491956	seqdb_ref	T
chr22:37491956	snp_fw_seq3	CTA/CGA
chr22:37491956	snp_rv_seq3	TAG/TCG
chr22:37491956	func	silent
chr22:37491956	transcript	NM_153609
chr22:37491956	genomic	.
chr22:37491956	codon	.
chr22:37491956	protein	.
chr22:37491956	worst	silent
chr22:37491956	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37491956	nvar	1
chr22:37491956	var	chr22:37491956:T/G
chr22:37491998	allele_ref	G
chr22:37491998	allele_alt	A
chr22:37491998	seqdb_ref	G
chr22:37491998	snp_fw_seq3	CGG/CAG
chr22:37491998	snp_rv_seq3	CCG/CTG
chr22:37491998	func	silent
chr22:37491998	transcript	NM_153609
chr22:37491998	genomic	.
chr22:37491998	codon	.
chr22:37491998	protein	.
chr22:37491998	worst	silent
chr22:37491998	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37491998	nvar	1
chr22:37491998	var	chr22:37491998:G/A
chr22:37492013	allele_ref	G
chr22:37492013	allele_alt	A
chr22:37492013	seqdb_ref	G
chr22:37492013	snp_fw_seq3	TGA/TAA
chr22:37492013	snp_rv_seq3	TCA/TTA
chr22:37492013	func	silent
chr22:37492013	transcript	NM_153609
chr22:37492013	genomic	.
chr22:37492013	codon	.
chr22:37492013	protein	.
chr22:37492013	worst	silent
chr22:37492013	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37492013	nvar	1
chr22:37492013	var	chr22:37492013:G/A
chr22:37492787	allele_ref	C
chr22:37492787	allele_alt	T
chr22:37492787	seqdb_ref	C
chr22:37492787	snp_fw_seq3	ACC/ATC
chr22:37492787	snp_rv_seq3	GGT/GAT
chr22:37492787	func	intronic
chr22:37492787	transcript	NM_153609
chr22:37492787	genomic	.
chr22:37492787	codon	.
chr22:37492787	protein	.
chr22:37492787	worst	intronic
chr22:37492787	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37492787	nvar	1
chr22:37492787	var	chr22:37492787:C/T
chr22:37494420	allele_ref	T
chr22:37494420	allele_alt	C
chr22:37494420	seqdb_ref	T
chr22:37494420	snp_fw_seq3	ATA/ACA
chr22:37494420	snp_rv_seq3	TAT/TGT
chr22:37494420	func	intronic
chr22:37494420	transcript	NM_153609
chr22:37494420	genomic	.
chr22:37494420	codon	.
chr22:37494420	protein	.
chr22:37494420	worst	intronic
chr22:37494420	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37494420	nvar	1
chr22:37494420	var	chr22:37494420:T/C
chr22:37494422	allele_ref	T
chr22:37494422	allele_alt	C
chr22:37494422	seqdb_ref	T
chr22:37494422	snp_fw_seq3	ATT/ACT
chr22:37494422	snp_rv_seq3	AAT/AGT
chr22:37494422	func	intronic
chr22:37494422	transcript	NM_153609
chr22:37494422	genomic	.
chr22:37494422	codon	.
chr22:37494422	protein	.
chr22:37494422	worst	intronic
chr22:37494422	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37494422	nvar	1
chr22:37494422	var	chr22:37494422:T/C
chr22:37499239	allele_ref	C
chr22:37499239	allele_alt	T
chr22:37499239	seqdb_ref	C
chr22:37499239	snp_fw_seq3	GCG/GTG
chr22:37499239	snp_rv_seq3	CGC/CAC
chr22:37499239	func	intronic
chr22:37499239	transcript	NM_153609
chr22:37499239	genomic	.
chr22:37499239	codon	.
chr22:37499239	protein	.
chr22:37499239	worst	intronic
chr22:37499239	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37499239	nvar	1
chr22:37499239	var	chr22:37499239:C/T
chr22:37499386	allele_ref	C
chr22:37499386	allele_alt	T
chr22:37499386	seqdb_ref	C
chr22:37499386	snp_fw_seq3	CCG/CTG
chr22:37499386	snp_rv_seq3	CGG/CAG
chr22:37499386	func	silent
chr22:37499386	transcript	NM_153609
chr22:37499386	genomic	.
chr22:37499386	codon	.
chr22:37499386	protein	.
chr22:37499386	worst	silent
chr22:37499386	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37499386	nvar	1
chr22:37499386	var	chr22:37499386:C/T
chr22:37499525	allele_ref	G
chr22:37499525	allele_alt	A
chr22:37499525	seqdb_ref	G
chr22:37499525	snp_fw_seq3	CGG/CAG
chr22:37499525	snp_rv_seq3	CCG/CTG
chr22:37499525	func	intronic
chr22:37499525	transcript	NM_153609
chr22:37499525	genomic	.
chr22:37499525	codon	.
chr22:37499525	protein	.
chr22:37499525	worst	intronic
chr22:37499525	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37499525	nvar	1
chr22:37499525	var	chr22:37499525:G/A
chr22:37524092	allele_ref	G
chr22:37524092	allele_alt	A
chr22:37524092	seqdb_ref	G
chr22:37524092	snp_fw_seq3	CGG/CAG
chr22:37524092	snp_rv_seq3	CCG/CTG
chr22:37524092	func	3-UTR
chr22:37524092	transcript	NM_000878
chr22:37524092	genomic	.
chr22:37524092	codon	.
chr22:37524092	protein	.
chr22:37524092	worst	UTR3
chr22:37524092	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:37524092	nvar	1
chr22:37524092	var	chr22:37524092:G/A
chr22:37524388	allele_ref	G
chr22:37524388	allele_alt	A
chr22:37524388	seqdb_ref	G
chr22:37524388	snp_fw_seq3	GGT/GAT
chr22:37524388	snp_rv_seq3	ACC/ATC
chr22:37524388	func	silent
chr22:37524388	transcript	NM_000878
chr22:37524388	genomic	.
chr22:37524388	codon	.
chr22:37524388	protein	.
chr22:37524388	worst	silent
chr22:37524388	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37524388	nvar	1
chr22:37524388	var	chr22:37524388:G/A
chr22:37524433	allele_ref	C
chr22:37524433	allele_alt	A
chr22:37524433	seqdb_ref	C
chr22:37524433	snp_fw_seq3	TCT/TAT
chr22:37524433	snp_rv_seq3	AGA/ATA
chr22:37524433	func	missense
chr22:37524433	transcript	NM_000878
chr22:37524433	genomic	g.1359C>A
chr22:37524433	codon	c.1359GAG>GAT
chr22:37524433	protein	p.453E>D
chr22:37524433	worst	missense
chr22:37524433	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37524433	nvar	1
chr22:37524433	var	chr22:37524433:C/A
chr22:37524619	allele_ref	G
chr22:37524619	allele_alt	T
chr22:37524619	seqdb_ref	G
chr22:37524619	snp_fw_seq3	GGT/GTT
chr22:37524619	snp_rv_seq3	ACC/AAC
chr22:37524619	func	missense
chr22:37524619	transcript	NM_000878
chr22:37524619	genomic	g.1173G>T
chr22:37524619	codon	c.1173GAC>GAA
chr22:37524619	protein	p.391D>E
chr22:37524619	worst	missense
chr22:37524619	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37524619	nvar	1
chr22:37524619	var	chr22:37524619:G/T
chr22:37528548	allele_ref	G
chr22:37528548	allele_alt	T
chr22:37528548	seqdb_ref	G
chr22:37528548	snp_fw_seq3	GGG/GTG
chr22:37528548	snp_rv_seq3	CCC/CAC
chr22:37528548	func	intronic
chr22:37528548	transcript	NM_000878
chr22:37528548	genomic	.
chr22:37528548	codon	.
chr22:37528548	protein	.
chr22:37528548	worst	intronic
chr22:37528548	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37528548	nvar	1
chr22:37528548	var	chr22:37528548:G/T
chr22:37531321	allele_ref	C
chr22:37531321	allele_alt	T
chr22:37531321	seqdb_ref	C
chr22:37531321	snp_fw_seq3	aCG/aTG
chr22:37531321	snp_rv_seq3	CGt/CAt
chr22:37531321	func	intronic
chr22:37531321	transcript	NM_000878
chr22:37531321	genomic	.
chr22:37531321	codon	.
chr22:37531321	protein	.
chr22:37531321	worst	intronic
chr22:37531321	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37531321	nvar	1
chr22:37531321	var	chr22:37531321:C/T
chr22:37531376	allele_ref	G
chr22:37531376	allele_alt	A
chr22:37531376	seqdb_ref	G
chr22:37531376	snp_fw_seq3	CGG/CAG
chr22:37531376	snp_rv_seq3	CCG/CTG
chr22:37531376	func	silent
chr22:37531376	transcript	NM_000878
chr22:37531376	genomic	.
chr22:37531376	codon	.
chr22:37531376	protein	.
chr22:37531376	worst	silent
chr22:37531376	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37531376	nvar	1
chr22:37531376	var	chr22:37531376:G/A
chr22:37531436	allele_ref	G
chr22:37531436	allele_alt	A
chr22:37531436	seqdb_ref	G
chr22:37531436	snp_fw_seq3	GGC/GAC
chr22:37531436	snp_rv_seq3	GCC/GTC
chr22:37531436	func	silent
chr22:37531436	transcript	NM_000878
chr22:37531436	genomic	.
chr22:37531436	codon	.
chr22:37531436	protein	.
chr22:37531436	worst	silent
chr22:37531436	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37531436	nvar	1
chr22:37531436	var	chr22:37531436:G/A
chr22:37531521	allele_ref	G
chr22:37531521	allele_alt	C
chr22:37531521	seqdb_ref	G
chr22:37531521	snp_fw_seq3	AGA/ACA
chr22:37531521	snp_rv_seq3	TCT/TGT
chr22:37531521	func	intronic
chr22:37531521	transcript	NM_000878
chr22:37531521	genomic	.
chr22:37531521	codon	.
chr22:37531521	protein	.
chr22:37531521	worst	intronic
chr22:37531521	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37531521	nvar	1
chr22:37531521	var	chr22:37531521:G/C
chr22:37532255	allele_ref	C
chr22:37532255	allele_alt	T
chr22:37532255	seqdb_ref	C
chr22:37532255	snp_fw_seq3	CCG/CTG
chr22:37532255	snp_rv_seq3	CGG/CAG
chr22:37532255	func	intronic
chr22:37532255	transcript	NM_000878
chr22:37532255	genomic	.
chr22:37532255	codon	.
chr22:37532255	protein	.
chr22:37532255	worst	intronic
chr22:37532255	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37532255	nvar	1
chr22:37532255	var	chr22:37532255:C/T
chr22:37532441	allele_ref	G
chr22:37532441	allele_alt	A
chr22:37532441	seqdb_ref	G
chr22:37532441	snp_fw_seq3	CGG/CAG
chr22:37532441	snp_rv_seq3	CCG/CTG
chr22:37532441	func	intronic
chr22:37532441	transcript	NM_000878
chr22:37532441	genomic	.
chr22:37532441	codon	.
chr22:37532441	protein	.
chr22:37532441	worst	intronic
chr22:37532441	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37532441	nvar	1
chr22:37532441	var	chr22:37532441:G/A
chr22:37533705	allele_ref	T
chr22:37533705	allele_alt	G
chr22:37533705	seqdb_ref	T
chr22:37533705	snp_fw_seq3	TTT/TGT
chr22:37533705	snp_rv_seq3	AAA/ACA
chr22:37533705	func	missense
chr22:37533705	transcript	NM_000878
chr22:37533705	genomic	g.459T>G
chr22:37533705	codon	c.459GAA>GAC
chr22:37533705	protein	p.153E>D
chr22:37533705	worst	missense
chr22:37533705	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37533705	nvar	1
chr22:37533705	var	chr22:37533705:T/G
chr22:37533786	allele_ref	C
chr22:37533786	allele_alt	G
chr22:37533786	seqdb_ref	C
chr22:37533786	snp_fw_seq3	ACA/AGA
chr22:37533786	snp_rv_seq3	TGT/TCT
chr22:37533786	func	intronic
chr22:37533786	transcript	NM_000878
chr22:37533786	genomic	.
chr22:37533786	codon	.
chr22:37533786	protein	.
chr22:37533786	worst	intronic
chr22:37533786	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37533786	nvar	1
chr22:37533786	var	chr22:37533786:C/G
chr22:37533795	allele_ref	G
chr22:37533795	allele_alt	C
chr22:37533795	seqdb_ref	G
chr22:37533795	snp_fw_seq3	AGG/ACG
chr22:37533795	snp_rv_seq3	CCT/CGT
chr22:37533795	func	intronic
chr22:37533795	transcript	NM_000878
chr22:37533795	genomic	.
chr22:37533795	codon	.
chr22:37533795	protein	.
chr22:37533795	worst	intronic
chr22:37533795	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37533795	nvar	1
chr22:37533795	var	chr22:37533795:G/C
chr22:37535130	allele_ref	C
chr22:37535130	allele_alt	T
chr22:37535130	seqdb_ref	C
chr22:37535130	snp_fw_seq3	CCA/CTA
chr22:37535130	snp_rv_seq3	TGG/TAG
chr22:37535130	func	intronic
chr22:37535130	transcript	NM_000878
chr22:37535130	genomic	.
chr22:37535130	codon	.
chr22:37535130	protein	.
chr22:37535130	worst	intronic
chr22:37535130	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37535130	nvar	1
chr22:37535130	var	chr22:37535130:C/T
chr22:37538508	allele_ref	G
chr22:37538508	allele_alt	A
chr22:37538508	seqdb_ref	G
chr22:37538508	snp_fw_seq3	GGA/GAA
chr22:37538508	snp_rv_seq3	TCC/TTC
chr22:37538508	func	missense
chr22:37538508	transcript	NM_000878
chr22:37538508	genomic	g.248G>A
chr22:37538508	codon	c.248TCC>TTC
chr22:37538508	protein	p.83S>F
chr22:37538508	worst	missense
chr22:37538508	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37538508	nvar	1
chr22:37538508	var	chr22:37538508:G/A
chr22:37538531	allele_ref	C
chr22:37538531	allele_alt	G
chr22:37538531	seqdb_ref	C
chr22:37538531	snp_fw_seq3	GCT/GGT
chr22:37538531	snp_rv_seq3	AGC/ACC
chr22:37538531	func	missense
chr22:37538531	transcript	NM_000878
chr22:37538531	genomic	g.225C>G
chr22:37538531	codon	c.225GAG>GAC
chr22:37538531	protein	p.75E>D
chr22:37538531	worst	missense
chr22:37538531	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37538531	nvar	1
chr22:37538531	var	chr22:37538531:C/G
chr22:37539644	allele_ref	C
chr22:37539644	allele_alt	T
chr22:37539644	seqdb_ref	C
chr22:37539644	snp_fw_seq3	TCG/TTG
chr22:37539644	snp_rv_seq3	CGA/CAA
chr22:37539644	func	silent
chr22:37539644	transcript	NM_000878
chr22:37539644	genomic	.
chr22:37539644	codon	.
chr22:37539644	protein	.
chr22:37539644	worst	silent
chr22:37539644	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37539644	nvar	1
chr22:37539644	var	chr22:37539644:C/T
chr22:37539713	allele_ref	T
chr22:37539713	allele_alt	C
chr22:37539713	seqdb_ref	T
chr22:37539713	snp_fw_seq3	GTG/GCG
chr22:37539713	snp_rv_seq3	CAC/CGC
chr22:37539713	func	intronic
chr22:37539713	transcript	NM_000878
chr22:37539713	genomic	.
chr22:37539713	codon	.
chr22:37539713	protein	.
chr22:37539713	worst	intronic
chr22:37539713	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37539713	nvar	1
chr22:37539713	var	chr22:37539713:T/C
chr22:37540101	allele_ref	C
chr22:37540101	allele_alt	T
chr22:37540101	seqdb_ref	C
chr22:37540101	snp_fw_seq3	GCT/GTT
chr22:37540101	snp_rv_seq3	AGC/AAC
chr22:37540101	func	intronic
chr22:37540101	transcript	NM_000878
chr22:37540101	genomic	.
chr22:37540101	codon	.
chr22:37540101	protein	.
chr22:37540101	worst	intronic
chr22:37540101	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37540101	nvar	1
chr22:37540101	var	chr22:37540101:C/T
chr22:37540122	allele_ref	C
chr22:37540122	allele_alt	T
chr22:37540122	seqdb_ref	C
chr22:37540122	snp_fw_seq3	TCA/TTA
chr22:37540122	snp_rv_seq3	TGA/TAA
chr22:37540122	func	intronic,splice
chr22:37540122	annot_details	DIST=3,NMD=0,OFPTV=1,EXIN=2,ISEQ=GGAGTG,ESEQ=GTAAGT,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS2+3G>A
chr22:37540122	transcript	NM_000878,NM_000878
chr22:37540122	genomic	.,.
chr22:37540122	codon	.,.
chr22:37540122	protein	.,.
chr22:37540122	worst	splice
chr22:37540122	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37540122	nvar	1
chr22:37540122	var	chr22:37540122:C/T
chr22:37578214	allele_ref	T
chr22:37578214	allele_alt	C
chr22:37578214	seqdb_ref	T
chr22:37578214	snp_fw_seq3	GTG/GCG
chr22:37578214	snp_rv_seq3	CAC/CGC
chr22:37578214	func	3-UTR,3-UTR
chr22:37578214	transcript	NM_031910,NM_182486
chr22:37578214	genomic	.,.
chr22:37578214	codon	.,.
chr22:37578214	protein	.,.
chr22:37578214	worst	UTR3
chr22:37578214	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:37578214	nvar	1
chr22:37578214	var	chr22:37578214:T/C
chr22:37578337	allele_ref	C
chr22:37578337	allele_alt	T
chr22:37578337	seqdb_ref	C
chr22:37578337	snp_fw_seq3	GCG/GTG
chr22:37578337	snp_rv_seq3	CGC/CAC
chr22:37578337	func	missense,missense
chr22:37578337	transcript	NM_031910,NM_182486
chr22:37578337	genomic	g.728C>T,g.728C>T
chr22:37578337	codon	c.728CGC>CAC,c.728CGC>CAC
chr22:37578337	protein	p.243R>H,p.243R>H
chr22:37578337	worst	missense
chr22:37578337	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37578337	nvar	1
chr22:37578337	var	chr22:37578337:C/T
chr22:37578502	allele_ref	C
chr22:37578502	allele_alt	T
chr22:37578502	seqdb_ref	C
chr22:37578502	snp_fw_seq3	ACG/ATG
chr22:37578502	snp_rv_seq3	CGT/CAT
chr22:37578502	func	missense,missense
chr22:37578502	transcript	NM_031910,NM_182486
chr22:37578502	genomic	g.563C>T,g.563C>T
chr22:37578502	codon	c.563CGT>CAT,c.563CGT>CAT
chr22:37578502	protein	p.188R>H,p.188R>H
chr22:37578502	worst	missense
chr22:37578502	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37578502	nvar	1
chr22:37578502	var	chr22:37578502:C/T
chr22:37578579	allele_ref	C
chr22:37578579	allele_alt	T
chr22:37578579	seqdb_ref	C
chr22:37578579	snp_fw_seq3	GCG/GTG
chr22:37578579	snp_rv_seq3	CGC/CAC
chr22:37578579	func	silent,silent
chr22:37578579	transcript	NM_031910,NM_182486
chr22:37578579	genomic	.,.
chr22:37578579	codon	.,.
chr22:37578579	protein	.,.
chr22:37578579	worst	silent
chr22:37578579	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37578579	nvar	1
chr22:37578579	var	chr22:37578579:C/T
chr22:37578652	allele_ref	G
chr22:37578652	allele_alt	A
chr22:37578652	seqdb_ref	G
chr22:37578652	snp_fw_seq3	CGG/CAG
chr22:37578652	snp_rv_seq3	CCG/CTG
chr22:37578652	func	missense,missense
chr22:37578652	transcript	NM_031910,NM_182486
chr22:37578652	genomic	g.413G>A,g.413G>A
chr22:37578652	codon	c.413CCG>CTG,c.413CCG>CTG
chr22:37578652	protein	p.138P>L,p.138P>L
chr22:37578652	worst	missense
chr22:37578652	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37578652	nvar	1
chr22:37578652	var	chr22:37578652:G/A
chr22:37578807	allele_ref	G
chr22:37578807	allele_alt	A
chr22:37578807	seqdb_ref	G
chr22:37578807	snp_fw_seq3	TGG/TAG
chr22:37578807	snp_rv_seq3	CCA/CTA
chr22:37578807	func	intronic,intronic
chr22:37578807	transcript	NM_031910,NM_182486
chr22:37578807	genomic	.,.
chr22:37578807	codon	.,.
chr22:37578807	protein	.,.
chr22:37578807	worst	intronic
chr22:37578807	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37578807	nvar	1
chr22:37578807	var	chr22:37578807:G/A
chr22:37581243	allele_ref	C
chr22:37581243	allele_alt	T
chr22:37581243	seqdb_ref	C
chr22:37581243	snp_fw_seq3	ACA/ATA
chr22:37581243	snp_rv_seq3	TGT/TAT
chr22:37581243	func	intronic,intronic
chr22:37581243	transcript	NM_031910,NM_182486
chr22:37581243	genomic	.,.
chr22:37581243	codon	.,.
chr22:37581243	protein	.,.
chr22:37581243	worst	intronic
chr22:37581243	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37581243	nvar	1
chr22:37581243	var	chr22:37581243:C/T
chr22:37581383	allele_ref	C
chr22:37581383	allele_alt	T
chr22:37581383	seqdb_ref	C
chr22:37581383	snp_fw_seq3	GCC/GTC
chr22:37581383	snp_rv_seq3	GGC/GAC
chr22:37581383	func	missense,missense
chr22:37581383	transcript	NM_031910,NM_182486
chr22:37581383	genomic	g.164C>T,g.164C>T
chr22:37581383	codon	c.164GGC>GAC,c.164GGC>GAC
chr22:37581383	protein	p.55G>D,p.55G>D
chr22:37581383	worst	missense
chr22:37581383	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37581383	nvar	1
chr22:37581383	var	chr22:37581383:C/T
chr22:37581422	allele_ref	G
chr22:37581422	allele_alt	C
chr22:37581422	seqdb_ref	G
chr22:37581422	snp_fw_seq3	AGG/ACG
chr22:37581422	snp_rv_seq3	CCT/CGT
chr22:37581422	func	missense,missense
chr22:37581422	transcript	NM_031910,NM_182486
chr22:37581422	genomic	g.125G>C,g.125G>C
chr22:37581422	codon	c.125CCT>CGT,c.125CCT>CGT
chr22:37581422	protein	p.42P>R,p.42P>R
chr22:37581422	worst	missense
chr22:37581422	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37581422	nvar	1
chr22:37581422	var	chr22:37581422:G/C
chr22:37581478	allele_ref	G
chr22:37581478	allele_alt	A
chr22:37581478	seqdb_ref	G
chr22:37581478	snp_fw_seq3	CGG/CAG
chr22:37581478	snp_rv_seq3	CCG/CTG
chr22:37581478	func	silent,silent
chr22:37581478	transcript	NM_031910,NM_182486
chr22:37581478	genomic	.,.
chr22:37581478	codon	.,.
chr22:37581478	protein	.,.
chr22:37581478	worst	silent
chr22:37581478	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37581478	nvar	1
chr22:37581478	var	chr22:37581478:G/A
chr22:37581485	allele_ref	C
chr22:37581485	allele_alt	A
chr22:37581485	seqdb_ref	C
chr22:37581485	snp_fw_seq3	CCC/CAC
chr22:37581485	snp_rv_seq3	GGG/GTG
chr22:37581485	func	missense,missense
chr22:37581485	transcript	NM_031910,NM_182486
chr22:37581485	genomic	g.62C>A,g.62C>A
chr22:37581485	codon	c.62GGG>GTG,c.62GGG>GTG
chr22:37581485	protein	p.21G>V,p.21G>V
chr22:37581485	worst	missense
chr22:37581485	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37581485	nvar	1
chr22:37581485	var	chr22:37581485:C/A
chr22:37584228	allele_ref	G
chr22:37584228	allele_alt	A
chr22:37584228	seqdb_ref	G
chr22:37584228	snp_fw_seq3	CGA/CAA
chr22:37584228	snp_rv_seq3	TCG/TTG
chr22:37584228	func	missense,missense
chr22:37584228	transcript	NM_031910,NM_182486
chr22:37584228	genomic	g.26G>A,g.26G>A
chr22:37584228	codon	c.26TCG>TTG,c.26TCG>TTG
chr22:37584228	protein	p.9S>L,p.9S>L
chr22:37584228	worst	missense
chr22:37584228	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37584228	nvar	1
chr22:37584228	var	chr22:37584228:G/A
chr22:37602602	allele_ref	C
chr22:37602602	allele_alt	T
chr22:37602602	seqdb_ref	C
chr22:37602602	snp_fw_seq3	GCG/GTG
chr22:37602602	snp_rv_seq3	CGC/CAC
chr22:37602602	func	missense
chr22:37602602	transcript	NM_001051
chr22:37602602	genomic	g.1241C>T
chr22:37602602	codon	c.1241CGC>CAC
chr22:37602602	protein	p.414R>H
chr22:37602602	worst	missense
chr22:37602602	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37602602	nvar	1
chr22:37602602	var	chr22:37602602:C/T
chr22:37602611	allele_ref	C
chr22:37602611	allele_alt	G
chr22:37602611	seqdb_ref	C
chr22:37602611	snp_fw_seq3	GCT/GGT
chr22:37602611	snp_rv_seq3	AGC/ACC
chr22:37602611	func	missense
chr22:37602611	transcript	NM_001051
chr22:37602611	genomic	g.1232C>G
chr22:37602611	codon	c.1232AGC>ACC
chr22:37602611	protein	p.411S>T
chr22:37602611	worst	missense
chr22:37602611	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37602611	nvar	1
chr22:37602611	var	chr22:37602611:C/G
chr22:37603021	allele_ref	G
chr22:37603021	allele_alt	A
chr22:37603021	seqdb_ref	G
chr22:37603021	snp_fw_seq3	CGT/CAT
chr22:37603021	snp_rv_seq3	ACG/ATG
chr22:37603021	func	silent
chr22:37603021	transcript	NM_001051
chr22:37603021	genomic	.
chr22:37603021	codon	.
chr22:37603021	protein	.
chr22:37603021	worst	silent
chr22:37603021	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37603021	nvar	1
chr22:37603021	var	chr22:37603021:G/A
chr22:37603051	allele_ref	C
chr22:37603051	allele_alt	T
chr22:37603051	seqdb_ref	C
chr22:37603051	snp_fw_seq3	GCG/GTG
chr22:37603051	snp_rv_seq3	CGC/CAC
chr22:37603051	func	silent
chr22:37603051	transcript	NM_001051
chr22:37603051	genomic	.
chr22:37603051	codon	.
chr22:37603051	protein	.
chr22:37603051	worst	silent
chr22:37603051	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37603051	nvar	1
chr22:37603051	var	chr22:37603051:C/T
chr22:37603351	allele_ref	G
chr22:37603351	allele_alt	A
chr22:37603351	seqdb_ref	G
chr22:37603351	snp_fw_seq3	CGC/CAC
chr22:37603351	snp_rv_seq3	GCG/GTG
chr22:37603351	func	silent
chr22:37603351	transcript	NM_001051
chr22:37603351	genomic	.
chr22:37603351	codon	.
chr22:37603351	protein	.
chr22:37603351	worst	silent
chr22:37603351	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37603351	nvar	1
chr22:37603351	var	chr22:37603351:G/A
chr22:37603390	allele_ref	C
chr22:37603390	allele_alt	T
chr22:37603390	seqdb_ref	C
chr22:37603390	snp_fw_seq3	CCG/CTG
chr22:37603390	snp_rv_seq3	CGG/CAG
chr22:37603390	func	silent
chr22:37603390	transcript	NM_001051
chr22:37603390	genomic	.
chr22:37603390	codon	.
chr22:37603390	protein	.
chr22:37603390	worst	silent
chr22:37603390	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37603390	nvar	1
chr22:37603390	var	chr22:37603390:C/T
chr22:37603744	allele_ref	C
chr22:37603744	allele_alt	T
chr22:37603744	seqdb_ref	C
chr22:37603744	snp_fw_seq3	CCG/CTG
chr22:37603744	snp_rv_seq3	CGG/CAG
chr22:37603744	func	silent
chr22:37603744	transcript	NM_001051
chr22:37603744	genomic	.
chr22:37603744	codon	.
chr22:37603744	protein	.
chr22:37603744	worst	silent
chr22:37603744	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37603744	nvar	1
chr22:37603744	var	chr22:37603744:C/T
chr22:37622815	allele_ref	A
chr22:37622815	allele_alt	G
chr22:37622815	seqdb_ref	A
chr22:37622815	snp_fw_seq3	GAG/GGG
chr22:37622815	snp_rv_seq3	CTC/CCC
chr22:37622815	func	silent
chr22:37622815	transcript	NM_002872
chr22:37622815	genomic	.
chr22:37622815	codon	.
chr22:37622815	protein	.
chr22:37622815	worst	silent
chr22:37622815	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37622815	nvar	1
chr22:37622815	var	chr22:37622815:A/G
chr22:37622861	allele_ref	C
chr22:37622861	allele_alt	A
chr22:37622861	seqdb_ref	C
chr22:37622861	snp_fw_seq3	ACA/AAA
chr22:37622861	snp_rv_seq3	TGT/TTT
chr22:37622861	func	intronic
chr22:37622861	transcript	NM_002872
chr22:37622861	genomic	.
chr22:37622861	codon	.
chr22:37622861	protein	.
chr22:37622861	worst	intronic
chr22:37622861	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37622861	nvar	1
chr22:37622861	var	chr22:37622861:C/A
chr22:37622888	allele_ref	G
chr22:37622888	allele_alt	C
chr22:37622888	seqdb_ref	G
chr22:37622888	snp_fw_seq3	GGG/GCG
chr22:37622888	snp_rv_seq3	CCC/CGC
chr22:37622888	func	intronic
chr22:37622888	transcript	NM_002872
chr22:37622888	genomic	.
chr22:37622888	codon	.
chr22:37622888	protein	.
chr22:37622888	worst	intronic
chr22:37622888	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37622888	nvar	1
chr22:37622888	var	chr22:37622888:G/C
chr22:37627234	allele_ref	T
chr22:37627234	allele_alt	C
chr22:37627234	seqdb_ref	T
chr22:37627234	snp_fw_seq3	CTG/CCG
chr22:37627234	snp_rv_seq3	CAG/CGG
chr22:37627234	func	intronic
chr22:37627234	transcript	NM_002872
chr22:37627234	genomic	.
chr22:37627234	codon	.
chr22:37627234	protein	.
chr22:37627234	worst	intronic
chr22:37627234	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37627234	nvar	1
chr22:37627234	var	chr22:37627234:T/C
chr22:37627246	allele_ref	G
chr22:37627246	allele_alt	C
chr22:37627246	seqdb_ref	G
chr22:37627246	snp_fw_seq3	CGC/CCC
chr22:37627246	snp_rv_seq3	GCG/GGG
chr22:37627246	func	intronic
chr22:37627246	transcript	NM_002872
chr22:37627246	genomic	.
chr22:37627246	codon	.
chr22:37627246	protein	.
chr22:37627246	worst	intronic
chr22:37627246	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37627246	nvar	1
chr22:37627246	var	chr22:37627246:G/C
chr22:37628008	allele_ref	G
chr22:37628008	allele_alt	A
chr22:37628008	seqdb_ref	G
chr22:37628008	snp_fw_seq3	CGA/CAA
chr22:37628008	snp_rv_seq3	TCG/TTG
chr22:37628008	func	silent
chr22:37628008	transcript	NM_002872
chr22:37628008	genomic	.
chr22:37628008	codon	.
chr22:37628008	protein	.
chr22:37628008	worst	silent
chr22:37628008	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37628008	nvar	1
chr22:37628008	var	chr22:37628008:G/A
chr22:37628993	allele_ref	T
chr22:37628993	allele_alt	G
chr22:37628993	seqdb_ref	T
chr22:37628993	snp_fw_seq3	ATC/AGC
chr22:37628993	snp_rv_seq3	GAT/GCT
chr22:37628993	func	intronic
chr22:37628993	transcript	NM_002872
chr22:37628993	genomic	.
chr22:37628993	codon	.
chr22:37628993	protein	.
chr22:37628993	worst	intronic
chr22:37628993	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37628993	nvar	1
chr22:37628993	var	chr22:37628993:T/G
chr22:37637607	allele_ref	A
chr22:37637607	allele_alt	G
chr22:37637607	seqdb_ref	A
chr22:37637607	snp_fw_seq3	CAC/CGC
chr22:37637607	snp_rv_seq3	GTG/GCG
chr22:37637607	func	intronic
chr22:37637607	transcript	NM_002872
chr22:37637607	genomic	.
chr22:37637607	codon	.
chr22:37637607	protein	.
chr22:37637607	worst	intronic
chr22:37637607	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37637607	nvar	1
chr22:37637607	var	chr22:37637607:A/G
chr22:37637653	allele_ref	G
chr22:37637653	allele_alt	C
chr22:37637653	seqdb_ref	G
chr22:37637653	snp_fw_seq3	AGG/ACG
chr22:37637653	snp_rv_seq3	CCT/CGT
chr22:37637653	func	silent
chr22:37637653	transcript	NM_002872
chr22:37637653	genomic	.
chr22:37637653	codon	.
chr22:37637653	protein	.
chr22:37637653	worst	silent
chr22:37637653	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37637653	nvar	1
chr22:37637653	var	chr22:37637653:G/C
chr22:37678565	allele_ref	G
chr22:37678565	allele_alt	A
chr22:37678565	seqdb_ref	G
chr22:37678565	snp_fw_seq3	CGG/CAG
chr22:37678565	snp_rv_seq3	CCG/CTG
chr22:37678565	func	5-UTR
chr22:37678565	transcript	NM_013385
chr22:37678565	genomic	.
chr22:37678565	codon	.
chr22:37678565	protein	.
chr22:37678565	worst	UTR5
chr22:37678565	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:37678565	nvar	1
chr22:37678565	var	chr22:37678565:G/A
chr22:37678572	allele_ref	G
chr22:37678572	allele_alt	C
chr22:37678572	seqdb_ref	G
chr22:37678572	snp_fw_seq3	CGA/CCA
chr22:37678572	snp_rv_seq3	TCG/TGG
chr22:37678572	func	5-UTR
chr22:37678572	transcript	NM_013385
chr22:37678572	genomic	.
chr22:37678572	codon	.
chr22:37678572	protein	.
chr22:37678572	worst	UTR5
chr22:37678572	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:37678572	nvar	1
chr22:37678572	var	chr22:37678572:G/C
chr22:37688646	allele_ref	G
chr22:37688646	allele_alt	A
chr22:37688646	seqdb_ref	G
chr22:37688646	snp_fw_seq3	CGG/CAG
chr22:37688646	snp_rv_seq3	CCG/CTG
chr22:37688646	func	intronic
chr22:37688646	transcript	NM_013385
chr22:37688646	genomic	.
chr22:37688646	codon	.
chr22:37688646	protein	.
chr22:37688646	worst	intronic
chr22:37688646	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37688646	nvar	1
chr22:37688646	var	chr22:37688646:G/A
chr22:37692092	allele_ref	A
chr22:37692092	allele_alt	G
chr22:37692092	seqdb_ref	A
chr22:37692092	snp_fw_seq3	CAT/CGT
chr22:37692092	snp_rv_seq3	ATG/ACG
chr22:37692092	func	missense
chr22:37692092	transcript	NM_013385
chr22:37692092	genomic	g.220A>G
chr22:37692092	codon	c.220ATG>GTG
chr22:37692092	protein	p.74M>V
chr22:37692092	worst	missense
chr22:37692092	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37692092	nvar	1
chr22:37692092	var	chr22:37692092:A/G
chr22:37693761	allele_ref	A
chr22:37693761	allele_alt	C
chr22:37693761	seqdb_ref	A
chr22:37693761	snp_fw_seq3	AAG/ACG
chr22:37693761	snp_rv_seq3	CTT/CGT
chr22:37693761	func	intronic
chr22:37693761	transcript	NM_013385
chr22:37693761	genomic	.
chr22:37693761	codon	.
chr22:37693761	protein	.
chr22:37693761	worst	intronic
chr22:37693761	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37693761	nvar	1
chr22:37693761	var	chr22:37693761:A/C
chr22:37695256	allele_ref	T
chr22:37695256	allele_alt	C
chr22:37695256	seqdb_ref	T
chr22:37695256	snp_fw_seq3	CTC/CCC
chr22:37695256	snp_rv_seq3	GAG/GGG
chr22:37695256	func	intronic
chr22:37695256	transcript	NM_013385
chr22:37695256	genomic	.
chr22:37695256	codon	.
chr22:37695256	protein	.
chr22:37695256	worst	intronic
chr22:37695256	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37695256	nvar	1
chr22:37695256	var	chr22:37695256:T/C
chr22:37696906	allele_ref	G
chr22:37696906	allele_alt	A
chr22:37696906	seqdb_ref	G
chr22:37696906	snp_fw_seq3	GGG/GAG
chr22:37696906	snp_rv_seq3	CCC/CTC
chr22:37696906	func	intronic
chr22:37696906	transcript	NM_013385
chr22:37696906	genomic	.
chr22:37696906	codon	.
chr22:37696906	protein	.
chr22:37696906	worst	intronic
chr22:37696906	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37696906	nvar	1
chr22:37696906	var	chr22:37696906:G/A
chr22:37696934	allele_ref	C
chr22:37696934	allele_alt	T
chr22:37696934	seqdb_ref	C
chr22:37696934	snp_fw_seq3	CCG/CTG
chr22:37696934	snp_rv_seq3	CGG/CAG
chr22:37696934	func	intronic
chr22:37696934	transcript	NM_013385
chr22:37696934	genomic	.
chr22:37696934	codon	.
chr22:37696934	protein	.
chr22:37696934	worst	intronic
chr22:37696934	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37696934	nvar	1
chr22:37696934	var	chr22:37696934:C/T
chr22:37697110	allele_ref	C
chr22:37697110	allele_alt	T
chr22:37697110	seqdb_ref	C
chr22:37697110	snp_fw_seq3	GCC/GTC
chr22:37697110	snp_rv_seq3	GGC/GAC
chr22:37697110	func	intronic
chr22:37697110	transcript	NM_013385
chr22:37697110	genomic	.
chr22:37697110	codon	.
chr22:37697110	protein	.
chr22:37697110	worst	intronic
chr22:37697110	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37697110	nvar	1
chr22:37697110	var	chr22:37697110:C/T
chr22:37699262	allele_ref	G
chr22:37699262	allele_alt	C
chr22:37699262	seqdb_ref	G
chr22:37699262	snp_fw_seq3	AGG/ACG
chr22:37699262	snp_rv_seq3	CCT/CGT
chr22:37699262	func	intronic
chr22:37699262	transcript	NM_013385
chr22:37699262	genomic	.
chr22:37699262	codon	.
chr22:37699262	protein	.
chr22:37699262	worst	intronic
chr22:37699262	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37699262	nvar	1
chr22:37699262	var	chr22:37699262:G/C
chr22:37699377	allele_ref	T
chr22:37699377	allele_alt	C
chr22:37699377	seqdb_ref	T
chr22:37699377	snp_fw_seq3	TTG/TCG
chr22:37699377	snp_rv_seq3	CAA/CGA
chr22:37699377	func	silent
chr22:37699377	transcript	NM_013385
chr22:37699377	genomic	.
chr22:37699377	codon	.
chr22:37699377	protein	.
chr22:37699377	worst	silent
chr22:37699377	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37699377	nvar	1
chr22:37699377	var	chr22:37699377:T/C
chr22:37705228	allele_ref	C
chr22:37705228	allele_alt	T
chr22:37705228	seqdb_ref	c
chr22:37705228	snp_fw_seq3	tct/tTt
chr22:37705228	snp_rv_seq3	aga/aAa
chr22:37705228	func	intronic
chr22:37705228	transcript	NM_013385
chr22:37705228	genomic	.
chr22:37705228	codon	.
chr22:37705228	protein	.
chr22:37705228	worst	intronic
chr22:37705228	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37705228	nvar	1
chr22:37705228	var	chr22:37705228:C/T
chr22:37707072	allele_ref	C
chr22:37707072	allele_alt	T
chr22:37707072	seqdb_ref	C
chr22:37707072	snp_fw_seq3	CCG/CTG
chr22:37707072	snp_rv_seq3	CGG/CAG
chr22:37707072	func	silent
chr22:37707072	transcript	NM_013385
chr22:37707072	genomic	.
chr22:37707072	codon	.
chr22:37707072	protein	.
chr22:37707072	worst	silent
chr22:37707072	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37707072	nvar	1
chr22:37707072	var	chr22:37707072:C/T
chr22:37707122	allele_ref	T
chr22:37707122	allele_alt	C
chr22:37707122	seqdb_ref	T
chr22:37707122	snp_fw_seq3	CTG/CCG
chr22:37707122	snp_rv_seq3	CAG/CGG
chr22:37707122	func	intronic
chr22:37707122	transcript	NM_013385
chr22:37707122	genomic	.
chr22:37707122	codon	.
chr22:37707122	protein	.
chr22:37707122	worst	intronic
chr22:37707122	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37707122	nvar	1
chr22:37707122	var	chr22:37707122:T/C
chr22:37707140	allele_ref	C
chr22:37707140	allele_alt	T
chr22:37707140	seqdb_ref	C
chr22:37707140	snp_fw_seq3	CCG/CTG
chr22:37707140	snp_rv_seq3	CGG/CAG
chr22:37707140	func	intronic
chr22:37707140	transcript	NM_013385
chr22:37707140	genomic	.
chr22:37707140	codon	.
chr22:37707140	protein	.
chr22:37707140	worst	intronic
chr22:37707140	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37707140	nvar	1
chr22:37707140	var	chr22:37707140:C/T
chr22:37707458	allele_ref	C
chr22:37707458	allele_alt	T
chr22:37707458	seqdb_ref	C
chr22:37707458	snp_fw_seq3	CCG/CTG
chr22:37707458	snp_rv_seq3	CGG/CAG
chr22:37707458	func	intronic
chr22:37707458	transcript	NM_013385
chr22:37707458	genomic	.
chr22:37707458	codon	.
chr22:37707458	protein	.
chr22:37707458	worst	intronic
chr22:37707458	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37707458	nvar	1
chr22:37707458	var	chr22:37707458:C/T
chr22:37709536	allele_ref	T
chr22:37709536	allele_alt	C
chr22:37709536	seqdb_ref	T
chr22:37709536	snp_fw_seq3	ATT/ACT
chr22:37709536	snp_rv_seq3	AAT/AGT
chr22:37709536	func	missense
chr22:37709536	transcript	NM_013385
chr22:37709536	genomic	g.1169T>C
chr22:37709536	codon	c.1169ATT>ACT
chr22:37709536	protein	p.390I>T
chr22:37709536	worst	missense
chr22:37709536	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37709536	nvar	1
chr22:37709536	var	chr22:37709536:T/C
chr22:37769786	allele_ref	C
chr22:37769786	allele_alt	G
chr22:37769786	seqdb_ref	C
chr22:37769786	snp_fw_seq3	TCC/TGC
chr22:37769786	snp_rv_seq3	GGA/GCA
chr22:37769786	func	missense
chr22:37769786	transcript	NM_052906
chr22:37769786	genomic	g.1789C>G
chr22:37769786	codon	c.1789GAG>CAG
chr22:37769786	protein	p.597E>Q
chr22:37769786	worst	missense
chr22:37769786	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37769786	nvar	1
chr22:37769786	var	chr22:37769786:C/G
chr22:37770066	allele_ref	G
chr22:37770066	allele_alt	T
chr22:37770066	seqdb_ref	G
chr22:37770066	snp_fw_seq3	CGA/CTA
chr22:37770066	snp_rv_seq3	TCG/TAG
chr22:37770066	func	silent
chr22:37770066	transcript	NM_052906
chr22:37770066	genomic	.
chr22:37770066	codon	.
chr22:37770066	protein	.
chr22:37770066	worst	silent
chr22:37770066	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37770066	nvar	1
chr22:37770066	var	chr22:37770066:G/T
chr22:37770108	allele_ref	G
chr22:37770108	allele_alt	A
chr22:37770108	seqdb_ref	G
chr22:37770108	snp_fw_seq3	CGG/CAG
chr22:37770108	snp_rv_seq3	CCG/CTG
chr22:37770108	func	silent
chr22:37770108	transcript	NM_052906
chr22:37770108	genomic	.
chr22:37770108	codon	.
chr22:37770108	protein	.
chr22:37770108	worst	silent
chr22:37770108	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37770108	nvar	1
chr22:37770108	var	chr22:37770108:G/A
chr22:37770210	allele_ref	G
chr22:37770210	allele_alt	A
chr22:37770210	seqdb_ref	G
chr22:37770210	snp_fw_seq3	CGG/CAG
chr22:37770210	snp_rv_seq3	CCG/CTG
chr22:37770210	func	silent
chr22:37770210	transcript	NM_052906
chr22:37770210	genomic	.
chr22:37770210	codon	.
chr22:37770210	protein	.
chr22:37770210	worst	silent
chr22:37770210	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37770210	nvar	1
chr22:37770210	var	chr22:37770210:G/A
chr22:37770357	allele_ref	A
chr22:37770357	allele_alt	G
chr22:37770357	seqdb_ref	A
chr22:37770357	snp_fw_seq3	CAA/CGA
chr22:37770357	snp_rv_seq3	TTG/TCG
chr22:37770357	func	silent
chr22:37770357	transcript	NM_052906
chr22:37770357	genomic	.
chr22:37770357	codon	.
chr22:37770357	protein	.
chr22:37770357	worst	silent
chr22:37770357	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37770357	nvar	1
chr22:37770357	var	chr22:37770357:A/G
chr22:37770630	allele_ref	G
chr22:37770630	allele_alt	A
chr22:37770630	seqdb_ref	G
chr22:37770630	snp_fw_seq3	GGA/GAA
chr22:37770630	snp_rv_seq3	TCC/TTC
chr22:37770630	func	silent
chr22:37770630	transcript	NM_052906
chr22:37770630	genomic	.
chr22:37770630	codon	.
chr22:37770630	protein	.
chr22:37770630	worst	silent
chr22:37770630	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37770630	nvar	1
chr22:37770630	var	chr22:37770630:G/A
chr22:37770790	allele_ref	G
chr22:37770790	allele_alt	T
chr22:37770790	seqdb_ref	G
chr22:37770790	snp_fw_seq3	GGA/GTA
chr22:37770790	snp_rv_seq3	TCC/TAC
chr22:37770790	func	missense
chr22:37770790	transcript	NM_052906
chr22:37770790	genomic	g.785G>T
chr22:37770790	codon	c.785TCC>TAC
chr22:37770790	protein	p.262S>Y
chr22:37770790	worst	missense
chr22:37770790	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37770790	nvar	1
chr22:37770790	var	chr22:37770790:G/T
chr22:37771158	allele_ref	G
chr22:37771158	allele_alt	A
chr22:37771158	seqdb_ref	G
chr22:37771158	snp_fw_seq3	CGA/CAA
chr22:37771158	snp_rv_seq3	TCG/TTG
chr22:37771158	func	silent
chr22:37771158	transcript	NM_052906
chr22:37771158	genomic	.
chr22:37771158	codon	.
chr22:37771158	protein	.
chr22:37771158	worst	silent
chr22:37771158	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37771158	nvar	1
chr22:37771158	var	chr22:37771158:G/A
chr22:37870707	allele_ref	C
chr22:37870707	allele_alt	T
chr22:37870707	seqdb_ref	C
chr22:37870707	snp_fw_seq3	ACG/ATG
chr22:37870707	snp_rv_seq3	CGT/CAT
chr22:37870707	func	missense,missense,npcRNA
chr22:37870707	transcript	NM_001166343,NM_002405,NR_029413
chr22:37870707	genomic	g.614C>T,g.656C>T,.
chr22:37870707	codon	c.614CGT>CAT,c.656CGT>CAT,.
chr22:37870707	protein	p.205R>H,p.219R>H,.
chr22:37870707	worst	missense
chr22:37870707	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:37870707	nvar	1
chr22:37870707	var	chr22:37870707:C/T
chr22:37888636	allele_ref	G
chr22:37888636	allele_alt	A
chr22:37888636	seqdb_ref	G
chr22:37888636	snp_fw_seq3	CGG/CAG
chr22:37888636	snp_rv_seq3	CCG/CTG
chr22:37888636	func	intronic
chr22:37888636	transcript	NM_014550
chr22:37888636	genomic	.
chr22:37888636	codon	.
chr22:37888636	protein	.
chr22:37888636	worst	intronic
chr22:37888636	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37888636	nvar	1
chr22:37888636	var	chr22:37888636:G/A
chr22:37888852	allele_ref	G
chr22:37888852	allele_alt	T
chr22:37888852	seqdb_ref	G
chr22:37888852	snp_fw_seq3	AGG/ATG
chr22:37888852	snp_rv_seq3	CCT/CAT
chr22:37888852	func	intronic
chr22:37888852	transcript	NM_014550
chr22:37888852	genomic	.
chr22:37888852	codon	.
chr22:37888852	protein	.
chr22:37888852	worst	intronic
chr22:37888852	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37888852	nvar	1
chr22:37888852	var	chr22:37888852:G/T
chr22:37900243	allele_ref	G
chr22:37900243	allele_alt	A
chr22:37900243	seqdb_ref	G
chr22:37900243	snp_fw_seq3	CGG/CAG
chr22:37900243	snp_rv_seq3	CCG/CTG
chr22:37900243	func	silent
chr22:37900243	transcript	NM_014550
chr22:37900243	genomic	.
chr22:37900243	codon	.
chr22:37900243	protein	.
chr22:37900243	worst	silent
chr22:37900243	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37900243	nvar	1
chr22:37900243	var	chr22:37900243:G/A
chr22:37900276	allele_ref	A
chr22:37900276	allele_alt	G
chr22:37900276	seqdb_ref	A
chr22:37900276	snp_fw_seq3	GAT/GGT
chr22:37900276	snp_rv_seq3	ATC/ACC
chr22:37900276	func	silent
chr22:37900276	transcript	NM_014550
chr22:37900276	genomic	.
chr22:37900276	codon	.
chr22:37900276	protein	.
chr22:37900276	worst	silent
chr22:37900276	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37900276	nvar	1
chr22:37900276	var	chr22:37900276:A/G
chr22:37900607	allele_ref	G
chr22:37900607	allele_alt	A
chr22:37900607	seqdb_ref	G
chr22:37900607	snp_fw_seq3	TGT/TAT
chr22:37900607	snp_rv_seq3	ACA/ATA
chr22:37900607	func	intronic
chr22:37900607	transcript	NM_014550
chr22:37900607	genomic	.
chr22:37900607	codon	.
chr22:37900607	protein	.
chr22:37900607	worst	intronic
chr22:37900607	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37900607	nvar	1
chr22:37900607	var	chr22:37900607:G/A
chr22:37900762	allele_ref	G
chr22:37900762	allele_alt	A
chr22:37900762	seqdb_ref	G
chr22:37900762	snp_fw_seq3	GGG/GAG
chr22:37900762	snp_rv_seq3	CCC/CTC
chr22:37900762	func	silent
chr22:37900762	transcript	NM_014550
chr22:37900762	genomic	.
chr22:37900762	codon	.
chr22:37900762	protein	.
chr22:37900762	worst	silent
chr22:37900762	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37900762	nvar	1
chr22:37900762	var	chr22:37900762:G/A
chr22:37900771	allele_ref	A
chr22:37900771	allele_alt	G
chr22:37900771	seqdb_ref	A
chr22:37900771	snp_fw_seq3	CAC/CGC
chr22:37900771	snp_rv_seq3	GTG/GCG
chr22:37900771	func	silent
chr22:37900771	transcript	NM_014550
chr22:37900771	genomic	.
chr22:37900771	codon	.
chr22:37900771	protein	.
chr22:37900771	worst	silent
chr22:37900771	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37900771	nvar	1
chr22:37900771	var	chr22:37900771:A/G
chr22:37902177	allele_ref	T
chr22:37902177	allele_alt	C
chr22:37902177	seqdb_ref	T
chr22:37902177	snp_fw_seq3	CTC/CCC
chr22:37902177	snp_rv_seq3	GAG/GGG
chr22:37902177	func	intronic
chr22:37902177	transcript	NM_014550
chr22:37902177	genomic	.
chr22:37902177	codon	.
chr22:37902177	protein	.
chr22:37902177	worst	intronic
chr22:37902177	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37902177	nvar	1
chr22:37902177	var	chr22:37902177:T/C
chr22:37902223	allele_ref	C
chr22:37902223	allele_alt	T
chr22:37902223	seqdb_ref	C
chr22:37902223	snp_fw_seq3	CCC/CTC
chr22:37902223	snp_rv_seq3	GGG/GAG
chr22:37902223	func	silent
chr22:37902223	transcript	NM_014550
chr22:37902223	genomic	.
chr22:37902223	codon	.
chr22:37902223	protein	.
chr22:37902223	worst	silent
chr22:37902223	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37902223	nvar	1
chr22:37902223	var	chr22:37902223:C/T
chr22:37902235	allele_ref	A
chr22:37902235	allele_alt	C
chr22:37902235	seqdb_ref	A
chr22:37902235	snp_fw_seq3	GAA/GCA
chr22:37902235	snp_rv_seq3	TTC/TGC
chr22:37902235	func	silent
chr22:37902235	transcript	NM_014550
chr22:37902235	genomic	.
chr22:37902235	codon	.
chr22:37902235	protein	.
chr22:37902235	worst	silent
chr22:37902235	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37902235	nvar	1
chr22:37902235	var	chr22:37902235:A/C
chr22:37903883	allele_ref	C
chr22:37903883	allele_alt	T
chr22:37903883	seqdb_ref	C
chr22:37903883	snp_fw_seq3	GCC/GTC
chr22:37903883	snp_rv_seq3	GGC/GAC
chr22:37903883	func	missense
chr22:37903883	transcript	NM_014550
chr22:37903883	genomic	g.1144C>T
chr22:37903883	codon	c.1144GCC>ACC
chr22:37903883	protein	p.382A>T
chr22:37903883	worst	missense
chr22:37903883	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37903883	nvar	1
chr22:37903883	var	chr22:37903883:C/T
chr22:37906262	allele_ref	C
chr22:37906262	allele_alt	T
chr22:37906262	seqdb_ref	C
chr22:37906262	snp_fw_seq3	CCG/CTG
chr22:37906262	snp_rv_seq3	CGG/CAG
chr22:37906262	func	missense
chr22:37906262	transcript	NM_014550
chr22:37906262	genomic	g.866C>T
chr22:37906262	codon	c.866CGG>CAG
chr22:37906262	protein	p.289R>Q
chr22:37906262	worst	missense
chr22:37906262	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37906262	nvar	1
chr22:37906262	var	chr22:37906262:C/T
chr22:37913936	allele_ref	A
chr22:37913936	allele_alt	C
chr22:37913936	seqdb_ref	A
chr22:37913936	snp_fw_seq3	CAC/CCC
chr22:37913936	snp_rv_seq3	GTG/GGG
chr22:37913936	func	intronic
chr22:37913936	transcript	NM_014550
chr22:37913936	genomic	.
chr22:37913936	codon	.
chr22:37913936	protein	.
chr22:37913936	worst	intronic
chr22:37913936	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37913936	nvar	1
chr22:37913936	var	chr22:37913936:A/C
chr22:37915100	allele_ref	A
chr22:37915100	allele_alt	G
chr22:37915100	seqdb_ref	A
chr22:37915100	snp_fw_seq3	GAT/GGT
chr22:37915100	snp_rv_seq3	ATC/ACC
chr22:37915100	func	silent
chr22:37915100	transcript	NM_014550
chr22:37915100	genomic	.
chr22:37915100	codon	.
chr22:37915100	protein	.
chr22:37915100	worst	silent
chr22:37915100	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37915100	nvar	1
chr22:37915100	var	chr22:37915100:A/G
chr22:37915145	allele_ref	C
chr22:37915145	allele_alt	T
chr22:37915145	seqdb_ref	c
chr22:37915145	snp_fw_seq3	cct/cTt
chr22:37915145	snp_rv_seq3	agg/aAg
chr22:37915145	func	silent
chr22:37915145	transcript	NM_014550
chr22:37915145	genomic	.
chr22:37915145	codon	.
chr22:37915145	protein	.
chr22:37915145	worst	silent
chr22:37915145	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37915145	nvar	1
chr22:37915145	var	chr22:37915145:C/T
chr22:37962557	allele_ref	C
chr22:37962557	allele_alt	T
chr22:37962557	seqdb_ref	C
chr22:37962557	snp_fw_seq3	ACG/ATG
chr22:37962557	snp_rv_seq3	CGT/CAT
chr22:37962557	func	silent
chr22:37962557	transcript	NM_152243
chr22:37962557	genomic	.
chr22:37962557	codon	.
chr22:37962557	protein	.
chr22:37962557	worst	silent
chr22:37962557	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37962557	nvar	1
chr22:37962557	var	chr22:37962557:C/T
chr22:37962583	allele_ref	G
chr22:37962583	allele_alt	A
chr22:37962583	seqdb_ref	G
chr22:37962583	snp_fw_seq3	CGC/CAC
chr22:37962583	snp_rv_seq3	GCG/GTG
chr22:37962583	func	missense
chr22:37962583	transcript	NM_152243
chr22:37962583	genomic	g.227G>A
chr22:37962583	codon	c.227CGC>CAC
chr22:37962583	protein	p.76R>H
chr22:37962583	worst	missense
chr22:37962583	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37962583	nvar	1
chr22:37962583	var	chr22:37962583:G/A
chr22:37962740	allele_ref	C
chr22:37962740	allele_alt	T
chr22:37962740	seqdb_ref	C
chr22:37962740	snp_fw_seq3	CCG/CTG
chr22:37962740	snp_rv_seq3	CGG/CAG
chr22:37962740	func	silent
chr22:37962740	transcript	NM_152243
chr22:37962740	genomic	.
chr22:37962740	codon	.
chr22:37962740	protein	.
chr22:37962740	worst	silent
chr22:37962740	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37962740	nvar	1
chr22:37962740	var	chr22:37962740:C/T
chr22:37964299	allele_ref	C
chr22:37964299	allele_alt	G
chr22:37964299	seqdb_ref	C
chr22:37964299	snp_fw_seq3	TCC/TGC
chr22:37964299	snp_rv_seq3	GGA/GCA
chr22:37964299	func	silent
chr22:37964299	transcript	NM_152243
chr22:37964299	genomic	.
chr22:37964299	codon	.
chr22:37964299	protein	.
chr22:37964299	worst	silent
chr22:37964299	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37964299	nvar	1
chr22:37964299	var	chr22:37964299:C/G
chr22:37964383	allele_ref	C
chr22:37964383	allele_alt	T
chr22:37964383	seqdb_ref	C
chr22:37964383	snp_fw_seq3	ACC/ATC
chr22:37964383	snp_rv_seq3	GGT/GAT
chr22:37964383	func	silent
chr22:37964383	transcript	NM_152243
chr22:37964383	genomic	.
chr22:37964383	codon	.
chr22:37964383	protein	.
chr22:37964383	worst	silent
chr22:37964383	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37964383	nvar	1
chr22:37964383	var	chr22:37964383:C/T
chr22:37964429	allele_ref	T
chr22:37964429	allele_alt	C
chr22:37964429	seqdb_ref	T
chr22:37964429	snp_fw_seq3	CTC/CCC
chr22:37964429	snp_rv_seq3	GAG/GGG
chr22:37964429	func	missense
chr22:37964429	transcript	NM_152243
chr22:37964429	genomic	g.778T>C
chr22:37964429	codon	c.778TCA>CCA
chr22:37964429	protein	p.260S>P
chr22:37964429	worst	missense
chr22:37964429	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37964429	nvar	1
chr22:37964429	var	chr22:37964429:T/C
chr22:37966314	allele_ref	C
chr22:37966314	allele_alt	T
chr22:37966314	seqdb_ref	C
chr22:37966314	snp_fw_seq3	ACG/ATG
chr22:37966314	snp_rv_seq3	CGT/CAT
chr22:37966314	func	missense
chr22:37966314	transcript	NM_006498
chr22:37966314	genomic	g.355C>T
chr22:37966314	codon	c.355GTA>ATA
chr22:37966314	protein	p.119V>I
chr22:37966314	worst	missense
chr22:37966314	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37966314	nvar	1
chr22:37966314	var	chr22:37966314:C/T
chr22:37966409	allele_ref	G
chr22:37966409	allele_alt	A
chr22:37966409	seqdb_ref	G
chr22:37966409	snp_fw_seq3	GGT/GAT
chr22:37966409	snp_rv_seq3	ACC/ATC
chr22:37966409	func	missense
chr22:37966409	transcript	NM_006498
chr22:37966409	genomic	g.260G>A
chr22:37966409	codon	c.260ACC>ATC
chr22:37966409	protein	p.87T>I
chr22:37966409	worst	missense
chr22:37966409	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:37966409	nvar	1
chr22:37966409	var	chr22:37966409:G/A
chr22:38016825	allele_ref	G
chr22:38016825	allele_alt	A
chr22:38016825	seqdb_ref	G
chr22:38016825	snp_fw_seq3	TGT/TAT
chr22:38016825	snp_rv_seq3	ACA/ATA
chr22:38016825	func	missense,missense,missense,missense
chr22:38016825	transcript	NM_001001560,NM_001172687,NM_001172688,NM_013365
chr22:38016825	genomic	g.433G>A,g.433G>A,g.214G>A,g.433G>A
chr22:38016825	codon	c.433GTA>ATA,c.433GTA>ATA,c.214GTA>ATA,c.433GTA>ATA
chr22:38016825	protein	p.145V>I,p.145V>I,p.72V>I,p.145V>I
chr22:38016825	worst	missense
chr22:38016825	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38016825	nvar	1
chr22:38016825	var	chr22:38016825:G/A
chr22:38019499	allele_ref	C
chr22:38019499	allele_alt	T
chr22:38019499	seqdb_ref	C
chr22:38019499	snp_fw_seq3	CCA/CTA
chr22:38019499	snp_rv_seq3	TGG/TAG
chr22:38019499	func	intronic,intronic,intronic,intronic
chr22:38019499	transcript	NM_001001560,NM_001172687,NM_001172688,NM_013365
chr22:38019499	genomic	.,.,.,.
chr22:38019499	codon	.,.,.,.
chr22:38019499	protein	.,.,.,.
chr22:38019499	worst	intronic
chr22:38019499	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38019499	nvar	1
chr22:38019499	var	chr22:38019499:C/T
chr22:38019677	allele_ref	C
chr22:38019677	allele_alt	G
chr22:38019677	seqdb_ref	C
chr22:38019677	snp_fw_seq3	CCT/CGT
chr22:38019677	snp_rv_seq3	AGG/ACG
chr22:38019677	func	intronic,intronic,intronic,intronic
chr22:38019677	transcript	NM_001001560,NM_001172687,NM_001172688,NM_013365
chr22:38019677	genomic	.,.,.,.
chr22:38019677	codon	.,.,.,.
chr22:38019677	protein	.,.,.,.
chr22:38019677	worst	intronic
chr22:38019677	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38019677	nvar	1
chr22:38019677	var	chr22:38019677:C/G
chr22:38025497	allele_ref	C
chr22:38025497	allele_alt	T
chr22:38025497	seqdb_ref	C
chr22:38025497	snp_fw_seq3	GCC/GTC
chr22:38025497	snp_rv_seq3	GGC/GAC
chr22:38025497	func	silent,silent,silent,silent
chr22:38025497	transcript	NM_001001560,NM_001172687,NM_001172688,NM_013365
chr22:38025497	genomic	.,.,.,.
chr22:38025497	codon	.,.,.,.
chr22:38025497	protein	.,.,.,.
chr22:38025497	worst	silent
chr22:38025497	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38025497	nvar	1
chr22:38025497	var	chr22:38025497:C/T
chr22:38025556	allele_ref	T
chr22:38025556	allele_alt	C
chr22:38025556	seqdb_ref	T
chr22:38025556	snp_fw_seq3	GTC/GCC
chr22:38025556	snp_rv_seq3	GAC/GGC
chr22:38025556	func	intronic,intronic,intronic,intronic
chr22:38025556	transcript	NM_001001560,NM_001172687,NM_001172688,NM_013365
chr22:38025556	genomic	.,.,.,.
chr22:38025556	codon	.,.,.,.
chr22:38025556	protein	.,.,.,.
chr22:38025556	worst	intronic
chr22:38025556	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38025556	nvar	1
chr22:38025556	var	chr22:38025556:T/C
chr22:38028073	allele_ref	A
chr22:38028073	allele_alt	G
chr22:38028073	seqdb_ref	A
chr22:38028073	snp_fw_seq3	CAC/CGC
chr22:38028073	snp_rv_seq3	GTG/GCG
chr22:38028073	func	silent,silent,silent,silent
chr22:38028073	transcript	NM_001001560,NM_001172687,NM_001172688,NM_013365
chr22:38028073	genomic	.,.,.,.
chr22:38028073	codon	.,.,.,.
chr22:38028073	protein	.,.,.,.
chr22:38028073	worst	silent
chr22:38028073	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38028073	nvar	1
chr22:38028073	var	chr22:38028073:A/G
chr22:38028456	allele_ref	A
chr22:38028456	allele_alt	G
chr22:38028456	seqdb_ref	A
chr22:38028456	snp_fw_seq3	CAG/CGG
chr22:38028456	snp_rv_seq3	CTG/CCG
chr22:38028456	func	silent,silent,silent,silent
chr22:38028456	transcript	NM_001001560,NM_001172687,NM_001172688,NM_013365
chr22:38028456	genomic	.,.,.,.
chr22:38028456	codon	.,.,.,.
chr22:38028456	protein	.,.,.,.
chr22:38028456	worst	silent
chr22:38028456	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38028456	nvar	1
chr22:38028456	var	chr22:38028456:A/G
chr22:38028471	allele_ref	C
chr22:38028471	allele_alt	T
chr22:38028471	seqdb_ref	C
chr22:38028471	snp_fw_seq3	TCG/TTG
chr22:38028471	snp_rv_seq3	CGA/CAA
chr22:38028471	func	silent,silent,silent,silent
chr22:38028471	transcript	NM_001001560,NM_001172687,NM_001172688,NM_013365
chr22:38028471	genomic	.,.,.,.
chr22:38028471	codon	.,.,.,.
chr22:38028471	protein	.,.,.,.
chr22:38028471	worst	silent
chr22:38028471	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38028471	nvar	1
chr22:38028471	var	chr22:38028471:C/T
chr22:38035851	allele_ref	A
chr22:38035851	allele_alt	G
chr22:38035851	seqdb_ref	A
chr22:38035851	snp_fw_seq3	GAC/GGC
chr22:38035851	snp_rv_seq3	GTC/GCC
chr22:38035851	func	silent,splice
chr22:38035851	annot_details	DIST=-2,NMD=0,OFPTV=1,EXIN=1,ISEQ=GTGAGT,ESEQ=GGGACG,SPLICE_TYPE=donor,ALT=G,HGVS=c.IVS1+-2A>G
chr22:38035851	transcript	NM_018957,NM_018957
chr22:38035851	genomic	.,.
chr22:38035851	codon	.,.
chr22:38035851	protein	.,.
chr22:38035851	worst	splice
chr22:38035851	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38035851	nvar	1
chr22:38035851	var	chr22:38035851:A/G
chr22:38037374	allele_ref	T
chr22:38037374	allele_alt	C
chr22:38037374	seqdb_ref	T
chr22:38037374	snp_fw_seq3	CTT/CCT
chr22:38037374	snp_rv_seq3	AAG/AGG
chr22:38037374	func	intronic
chr22:38037374	transcript	NM_018957
chr22:38037374	genomic	.
chr22:38037374	codon	.
chr22:38037374	protein	.
chr22:38037374	worst	intronic
chr22:38037374	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38037374	nvar	1
chr22:38037374	var	chr22:38037374:T/C
chr22:38039128	allele_ref	A
chr22:38039128	allele_alt	G
chr22:38039128	seqdb_ref	A
chr22:38039128	snp_fw_seq3	AAC/AGC
chr22:38039128	snp_rv_seq3	GTT/GCT
chr22:38039128	func	silent
chr22:38039128	transcript	NM_018957
chr22:38039128	genomic	.
chr22:38039128	codon	.
chr22:38039128	protein	.
chr22:38039128	worst	silent
chr22:38039128	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38039128	nvar	1
chr22:38039128	var	chr22:38039128:A/G
chr22:38039625	allele_ref	C
chr22:38039625	allele_alt	T
chr22:38039625	seqdb_ref	C
chr22:38039625	snp_fw_seq3	ACC/ATC
chr22:38039625	snp_rv_seq3	GGT/GAT
chr22:38039625	func	intronic
chr22:38039625	transcript	NM_018957
chr22:38039625	genomic	.
chr22:38039625	codon	.
chr22:38039625	protein	.
chr22:38039625	worst	intronic
chr22:38039625	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38039625	nvar	1
chr22:38039625	var	chr22:38039625:C/T
chr22:38039634	allele_ref	C
chr22:38039634	allele_alt	G
chr22:38039634	seqdb_ref	C
chr22:38039634	snp_fw_seq3	CCT/CGT
chr22:38039634	snp_rv_seq3	AGG/ACG
chr22:38039634	func	intronic
chr22:38039634	transcript	NM_018957
chr22:38039634	genomic	.
chr22:38039634	codon	.
chr22:38039634	protein	.
chr22:38039634	worst	intronic
chr22:38039634	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38039634	nvar	1
chr22:38039634	var	chr22:38039634:C/G
chr22:38039708	allele_ref	T
chr22:38039708	allele_alt	C
chr22:38039708	seqdb_ref	T
chr22:38039708	snp_fw_seq3	GTA/GCA
chr22:38039708	snp_rv_seq3	TAC/TGC
chr22:38039708	func	silent
chr22:38039708	transcript	NM_018957
chr22:38039708	genomic	.
chr22:38039708	codon	.
chr22:38039708	protein	.
chr22:38039708	worst	silent
chr22:38039708	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38039708	nvar	1
chr22:38039708	var	chr22:38039708:T/C
chr22:38040842	allele_ref	C
chr22:38040842	allele_alt	T
chr22:38040842	seqdb_ref	C
chr22:38040842	snp_fw_seq3	CCC/CTC
chr22:38040842	snp_rv_seq3	GGG/GAG
chr22:38040842	func	intronic
chr22:38040842	transcript	NM_018957
chr22:38040842	genomic	.
chr22:38040842	codon	.
chr22:38040842	protein	.
chr22:38040842	worst	intronic
chr22:38040842	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38040842	nvar	1
chr22:38040842	var	chr22:38040842:C/T
chr22:38041544	allele_ref	A
chr22:38041544	allele_alt	G
chr22:38041544	seqdb_ref	A
chr22:38041544	snp_fw_seq3	AAG/AGG
chr22:38041544	snp_rv_seq3	CTT/CCT
chr22:38041544	func	intronic
chr22:38041544	transcript	NM_018957
chr22:38041544	genomic	.
chr22:38041544	codon	.
chr22:38041544	protein	.
chr22:38041544	worst	intronic
chr22:38041544	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38041544	nvar	1
chr22:38041544	var	chr22:38041544:A/G
chr22:38043372	allele_ref	A
chr22:38043372	allele_alt	C
chr22:38043372	seqdb_ref	A
chr22:38043372	snp_fw_seq3	GAG/GCG
chr22:38043372	snp_rv_seq3	CTC/CGC
chr22:38043372	func	intronic
chr22:38043372	transcript	NM_018957
chr22:38043372	genomic	.
chr22:38043372	codon	.
chr22:38043372	protein	.
chr22:38043372	worst	intronic
chr22:38043372	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38043372	nvar	1
chr22:38043372	var	chr22:38043372:A/C
chr22:38043385	allele_ref	G
chr22:38043385	allele_alt	A
chr22:38043385	seqdb_ref	G
chr22:38043385	snp_fw_seq3	GGG/GAG
chr22:38043385	snp_rv_seq3	CCC/CTC
chr22:38043385	func	intronic
chr22:38043385	transcript	NM_018957
chr22:38043385	genomic	.
chr22:38043385	codon	.
chr22:38043385	protein	.
chr22:38043385	worst	intronic
chr22:38043385	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38043385	nvar	1
chr22:38043385	var	chr22:38043385:G/A
chr22:38043443	allele_ref	C
chr22:38043443	allele_alt	A
chr22:38043443	seqdb_ref	C
chr22:38043443	snp_fw_seq3	CCC/CAC
chr22:38043443	snp_rv_seq3	GGG/GTG
chr22:38043443	func	intronic,splice
chr22:38043443	annot_details	DIST=-5,NMD=0,OFPTV=1,EXIN=13,ISEQ=CCCCAG,ESEQ=CCTGAA,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS13+-5C>A
chr22:38043443	transcript	NM_018957,NM_018957
chr22:38043443	genomic	.,.
chr22:38043443	codon	.,.
chr22:38043443	protein	.,.
chr22:38043443	worst	splice
chr22:38043443	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38043443	nvar	1
chr22:38043443	var	chr22:38043443:C/A
chr22:38043444	allele_ref	C
chr22:38043444	allele_alt	A
chr22:38043444	seqdb_ref	C
chr22:38043444	snp_fw_seq3	CCC/CAC
chr22:38043444	snp_rv_seq3	GGG/GTG
chr22:38043444	func	intronic,splice
chr22:38043444	annot_details	DIST=-4,NMD=0,OFPTV=1,EXIN=13,ISEQ=CCCCAG,ESEQ=CCTGAA,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS13+-4C>A
chr22:38043444	transcript	NM_018957,NM_018957
chr22:38043444	genomic	.,.
chr22:38043444	codon	.,.
chr22:38043444	protein	.,.
chr22:38043444	worst	splice
chr22:38043444	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38043444	nvar	1
chr22:38043444	var	chr22:38043444:C/A
chr22:38043548	allele_ref	C
chr22:38043548	allele_alt	A
chr22:38043548	seqdb_ref	C
chr22:38043548	snp_fw_seq3	CCC/CAC
chr22:38043548	snp_rv_seq3	GGG/GTG
chr22:38043548	func	intronic
chr22:38043548	transcript	NM_018957
chr22:38043548	genomic	.
chr22:38043548	codon	.
chr22:38043548	protein	.
chr22:38043548	worst	intronic
chr22:38043548	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38043548	nvar	1
chr22:38043548	var	chr22:38043548:C/A
chr22:38046109	allele_ref	G
chr22:38046109	allele_alt	T
chr22:38046109	seqdb_ref	g
chr22:38046109	snp_fw_seq3	aga/aTa
chr22:38046109	snp_rv_seq3	tct/tAt
chr22:38046109	func	intronic
chr22:38046109	transcript	NM_018957
chr22:38046109	genomic	.
chr22:38046109	codon	.
chr22:38046109	protein	.
chr22:38046109	worst	intronic
chr22:38046109	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38046109	nvar	1
chr22:38046109	var	chr22:38046109:G/T
chr22:38046262	allele_ref	G
chr22:38046262	allele_alt	A
chr22:38046262	seqdb_ref	G
chr22:38046262	snp_fw_seq3	AGC/AAC
chr22:38046262	snp_rv_seq3	GCT/GTT
chr22:38046262	func	intronic
chr22:38046262	transcript	NM_018957
chr22:38046262	genomic	.
chr22:38046262	codon	.
chr22:38046262	protein	.
chr22:38046262	worst	intronic
chr22:38046262	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38046262	nvar	1
chr22:38046262	var	chr22:38046262:G/A
chr22:38046666	allele_ref	C
chr22:38046666	allele_alt	T
chr22:38046666	seqdb_ref	c
chr22:38046666	snp_fw_seq3	ccg/cTg
chr22:38046666	snp_rv_seq3	cgg/cAg
chr22:38046666	func	missense
chr22:38046666	transcript	NM_018957
chr22:38046666	genomic	g.1532C>T
chr22:38046666	codon	c.1532CCG>CTG
chr22:38046666	protein	p.511P>L
chr22:38046666	worst	missense
chr22:38046666	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38046666	nvar	1
chr22:38046666	var	chr22:38046666:C/T
chr22:38046695	allele_ref	C
chr22:38046695	allele_alt	A
chr22:38046695	seqdb_ref	c
chr22:38046695	snp_fw_seq3	tcc/tAc
chr22:38046695	snp_rv_seq3	gga/gTa
chr22:38046695	func	missense
chr22:38046695	transcript	NM_018957
chr22:38046695	genomic	g.1561C>A
chr22:38046695	codon	c.1561CCG>ACG
chr22:38046695	protein	p.521P>T
chr22:38046695	worst	missense
chr22:38046695	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38046695	nvar	1
chr22:38046695	var	chr22:38046695:C/A
chr22:38046718	allele_ref	A
chr22:38046718	allele_alt	G
chr22:38046718	seqdb_ref	A
chr22:38046718	snp_fw_seq3	CAG/CGG
chr22:38046718	snp_rv_seq3	CTG/CCG
chr22:38046718	func	silent
chr22:38046718	transcript	NM_018957
chr22:38046718	genomic	.
chr22:38046718	codon	.
chr22:38046718	protein	.
chr22:38046718	worst	silent
chr22:38046718	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38046718	nvar	1
chr22:38046718	var	chr22:38046718:A/G
chr22:38049816	allele_ref	C
chr22:38049816	allele_alt	T
chr22:38049816	seqdb_ref	C
chr22:38049816	snp_fw_seq3	CCT/CTT
chr22:38049816	snp_rv_seq3	AGG/AAG
chr22:38049816	func	silent
chr22:38049816	transcript	NM_018957
chr22:38049816	genomic	.
chr22:38049816	codon	.
chr22:38049816	protein	.
chr22:38049816	worst	silent
chr22:38049816	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38049816	nvar	1
chr22:38049816	var	chr22:38049816:C/T
chr22:38051328	allele_ref	C
chr22:38051328	allele_alt	T
chr22:38051328	seqdb_ref	C
chr22:38051328	snp_fw_seq3	CCG/CTG
chr22:38051328	snp_rv_seq3	CGG/CAG
chr22:38051328	func	silent
chr22:38051328	transcript	NM_018957
chr22:38051328	genomic	.
chr22:38051328	codon	.
chr22:38051328	protein	.
chr22:38051328	worst	silent
chr22:38051328	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38051328	nvar	1
chr22:38051328	var	chr22:38051328:C/T
chr22:38051355	allele_ref	G
chr22:38051355	allele_alt	A
chr22:38051355	seqdb_ref	G
chr22:38051355	snp_fw_seq3	CGC/CAC
chr22:38051355	snp_rv_seq3	GCG/GTG
chr22:38051355	func	silent
chr22:38051355	transcript	NM_018957
chr22:38051355	genomic	.
chr22:38051355	codon	.
chr22:38051355	protein	.
chr22:38051355	worst	silent
chr22:38051355	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38051355	nvar	1
chr22:38051355	var	chr22:38051355:G/A
chr22:38051451	allele_ref	G
chr22:38051451	allele_alt	A
chr22:38051451	seqdb_ref	G
chr22:38051451	snp_fw_seq3	CGT/CAT
chr22:38051451	snp_rv_seq3	ACG/ATG
chr22:38051451	func	silent
chr22:38051451	transcript	NM_018957
chr22:38051451	genomic	.
chr22:38051451	codon	.
chr22:38051451	protein	.
chr22:38051451	worst	silent
chr22:38051451	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38051451	nvar	1
chr22:38051451	var	chr22:38051451:G/A
chr22:38051460	allele_ref	C
chr22:38051460	allele_alt	T
chr22:38051460	seqdb_ref	C
chr22:38051460	snp_fw_seq3	CCA/CTA
chr22:38051460	snp_rv_seq3	TGG/TAG
chr22:38051460	func	silent
chr22:38051460	transcript	NM_018957
chr22:38051460	genomic	.
chr22:38051460	codon	.
chr22:38051460	protein	.
chr22:38051460	worst	silent
chr22:38051460	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38051460	nvar	1
chr22:38051460	var	chr22:38051460:C/T
chr22:38051628	allele_ref	C
chr22:38051628	allele_alt	A
chr22:38051628	seqdb_ref	C
chr22:38051628	snp_fw_seq3	TCC/TAC
chr22:38051628	snp_rv_seq3	GGA/GTA
chr22:38051628	func	silent
chr22:38051628	transcript	NM_018957
chr22:38051628	genomic	.
chr22:38051628	codon	.
chr22:38051628	protein	.
chr22:38051628	worst	silent
chr22:38051628	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38051628	nvar	1
chr22:38051628	var	chr22:38051628:C/A
chr22:38061520	allele_ref	C
chr22:38061520	allele_alt	G
chr22:38061520	seqdb_ref	C
chr22:38061520	snp_fw_seq3	TCC/TGC
chr22:38061520	snp_rv_seq3	GGA/GCA
chr22:38061520	func	intronic
chr22:38061520	transcript	NM_020315
chr22:38061520	genomic	.
chr22:38061520	codon	.
chr22:38061520	protein	.
chr22:38061520	worst	intronic
chr22:38061520	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38061520	nvar	1
chr22:38061520	var	chr22:38061520:C/G
chr22:38061544	allele_ref	G
chr22:38061544	allele_alt	A
chr22:38061544	seqdb_ref	G
chr22:38061544	snp_fw_seq3	CGT/CAT
chr22:38061544	snp_rv_seq3	ACG/ATG
chr22:38061544	func	intronic
chr22:38061544	transcript	NM_020315
chr22:38061544	genomic	.
chr22:38061544	codon	.
chr22:38061544	protein	.
chr22:38061544	worst	intronic
chr22:38061544	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38061544	nvar	1
chr22:38061544	var	chr22:38061544:G/A
chr22:38061637	allele_ref	A
chr22:38061637	allele_alt	T
chr22:38061637	seqdb_ref	A
chr22:38061637	snp_fw_seq3	TAC/TTC
chr22:38061637	snp_rv_seq3	GTA/GAA
chr22:38061637	func	missense
chr22:38061637	transcript	NM_020315
chr22:38061637	genomic	g.650A>T
chr22:38061637	codon	c.650TAC>TTC
chr22:38061637	protein	p.217Y>F
chr22:38061637	worst	missense
chr22:38061637	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38061637	nvar	1
chr22:38061637	var	chr22:38061637:A/T
chr22:38061816	allele_ref	G
chr22:38061816	allele_alt	A
chr22:38061816	seqdb_ref	G
chr22:38061816	snp_fw_seq3	CGA/CAA
chr22:38061816	snp_rv_seq3	TCG/TTG
chr22:38061816	func	missense
chr22:38061816	transcript	NM_020315
chr22:38061816	genomic	g.829G>A
chr22:38061816	codon	c.829GAC>AAC
chr22:38061816	protein	p.277D>N
chr22:38061816	worst	missense
chr22:38061816	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38061816	nvar	1
chr22:38061816	var	chr22:38061816:G/A
chr22:38071707	allele_ref	A
chr22:38071707	allele_alt	G
chr22:38071707	seqdb_ref	A
chr22:38071707	snp_fw_seq3	AAT/AGT
chr22:38071707	snp_rv_seq3	ATT/ACT
chr22:38071707	func	5-UTR
chr22:38071707	transcript	NM_002305
chr22:38071707	genomic	.
chr22:38071707	codon	.
chr22:38071707	protein	.
chr22:38071707	worst	UTR5
chr22:38071707	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:38071707	nvar	1
chr22:38071707	var	chr22:38071707:A/G
chr22:38072983	allele_ref	G
chr22:38072983	allele_alt	T
chr22:38072983	seqdb_ref	G
chr22:38072983	snp_fw_seq3	TGT/TTT
chr22:38072983	snp_rv_seq3	ACA/AAA
chr22:38072983	func	intronic
chr22:38072983	transcript	NM_002305
chr22:38072983	genomic	.
chr22:38072983	codon	.
chr22:38072983	protein	.
chr22:38072983	worst	intronic
chr22:38072983	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38072983	nvar	1
chr22:38072983	var	chr22:38072983:G/T
chr22:38084404	allele_ref	G
chr22:38084404	allele_alt	A
chr22:38084404	seqdb_ref	G
chr22:38084404	snp_fw_seq3	TGA/TAA
chr22:38084404	snp_rv_seq3	TCA/TTA
chr22:38084404	func	intronic
chr22:38084404	transcript	NM_024313
chr22:38084404	genomic	.
chr22:38084404	codon	.
chr22:38084404	protein	.
chr22:38084404	worst	intronic
chr22:38084404	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38084404	nvar	1
chr22:38084404	var	chr22:38084404:G/A
chr22:38084910	allele_ref	T
chr22:38084910	allele_alt	C
chr22:38084910	seqdb_ref	T
chr22:38084910	snp_fw_seq3	GTA/GCA
chr22:38084910	snp_rv_seq3	TAC/TGC
chr22:38084910	func	missense
chr22:38084910	transcript	NM_024313
chr22:38084910	genomic	g.292T>C
chr22:38084910	codon	c.292TAT>CAT
chr22:38084910	protein	p.98Y>H
chr22:38084910	worst	missense
chr22:38084910	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38084910	nvar	1
chr22:38084910	var	chr22:38084910:T/C
chr22:38087309	allele_ref	G
chr22:38087309	allele_alt	C
chr22:38087309	seqdb_ref	G
chr22:38087309	snp_fw_seq3	CGT/CCT
chr22:38087309	snp_rv_seq3	ACG/AGG
chr22:38087309	func	missense
chr22:38087309	transcript	NM_024313
chr22:38087309	genomic	g.608G>C
chr22:38087309	codon	c.608CGT>CCT
chr22:38087309	protein	p.203R>P
chr22:38087309	worst	missense
chr22:38087309	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38087309	nvar	1
chr22:38087309	var	chr22:38087309:G/C
chr22:38097359	allele_ref	C
chr22:38097359	allele_alt	G
chr22:38097359	seqdb_ref	C
chr22:38097359	snp_fw_seq3	CCT/CGT
chr22:38097359	snp_rv_seq3	AGG/ACG
chr22:38097359	func	5-UTR
chr22:38097359	transcript	NM_001039141
chr22:38097359	genomic	.
chr22:38097359	codon	.
chr22:38097359	protein	.
chr22:38097359	worst	UTR5
chr22:38097359	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:38097359	nvar	1
chr22:38097359	var	chr22:38097359:C/G
chr22:38109353	allele_ref	G
chr22:38109353	allele_alt	A
chr22:38109353	seqdb_ref	G
chr22:38109353	snp_fw_seq3	CGG/CAG
chr22:38109353	snp_rv_seq3	CCG/CTG
chr22:38109353	func	missense
chr22:38109353	transcript	NM_001039141
chr22:38109353	genomic	g.391G>A
chr22:38109353	codon	c.391GGC>AGC
chr22:38109353	protein	p.131G>S
chr22:38109353	worst	missense
chr22:38109353	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38109353	nvar	1
chr22:38109353	var	chr22:38109353:G/A
chr22:38119213	allele_ref	G
chr22:38119213	allele_alt	A
chr22:38119213	seqdb_ref	G
chr22:38119213	snp_fw_seq3	AGC/AAC
chr22:38119213	snp_rv_seq3	GCT/GTT
chr22:38119213	func	missense
chr22:38119213	transcript	NM_001039141
chr22:38119213	genomic	g.650G>A
chr22:38119213	codon	c.650AGC>AAC
chr22:38119213	protein	p.217S>N
chr22:38119213	worst	missense
chr22:38119213	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38119213	nvar	1
chr22:38119213	var	chr22:38119213:G/A
chr22:38119214	allele_ref	C
chr22:38119214	allele_alt	T
chr22:38119214	seqdb_ref	C
chr22:38119214	snp_fw_seq3	GCG/GTG
chr22:38119214	snp_rv_seq3	CGC/CAC
chr22:38119214	func	silent
chr22:38119214	transcript	NM_001039141
chr22:38119214	genomic	.
chr22:38119214	codon	.
chr22:38119214	protein	.
chr22:38119214	worst	silent
chr22:38119214	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38119214	nvar	1
chr22:38119214	var	chr22:38119214:C/T
chr22:38120956	allele_ref	G
chr22:38120956	allele_alt	A
chr22:38120956	seqdb_ref	G
chr22:38120956	snp_fw_seq3	CGG/CAG
chr22:38120956	snp_rv_seq3	CCG/CTG
chr22:38120956	func	missense
chr22:38120956	transcript	NM_001039141
chr22:38120956	genomic	g.2393G>A
chr22:38120956	codon	c.2393CGG>CAG
chr22:38120956	protein	p.798R>Q
chr22:38120956	worst	missense
chr22:38120956	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38120956	nvar	1
chr22:38120956	var	chr22:38120956:G/A
chr22:38121013	allele_ref	C
chr22:38121013	allele_alt	G
chr22:38121013	seqdb_ref	C
chr22:38121013	snp_fw_seq3	ACT/AGT
chr22:38121013	snp_rv_seq3	AGT/ACT
chr22:38121013	func	missense
chr22:38121013	transcript	NM_001039141
chr22:38121013	genomic	g.2450C>G
chr22:38121013	codon	c.2450ACT>AGT
chr22:38121013	protein	p.817T>S
chr22:38121013	worst	missense
chr22:38121013	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38121013	nvar	1
chr22:38121013	var	chr22:38121013:C/G
chr22:38121152	allele_ref	C
chr22:38121152	allele_alt	A
chr22:38121152	seqdb_ref	C
chr22:38121152	snp_fw_seq3	ACC/AAC
chr22:38121152	snp_rv_seq3	GGT/GTT
chr22:38121152	func	missense
chr22:38121152	transcript	NM_001039141
chr22:38121152	genomic	g.2589C>A
chr22:38121152	codon	c.2589AAC>AAA
chr22:38121152	protein	p.863N>K
chr22:38121152	worst	missense
chr22:38121152	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38121152	nvar	1
chr22:38121152	var	chr22:38121152:C/A
chr22:38121258	allele_ref	C
chr22:38121258	allele_alt	G
chr22:38121258	seqdb_ref	C
chr22:38121258	snp_fw_seq3	TCG/TGG
chr22:38121258	snp_rv_seq3	CGA/CCA
chr22:38121258	func	missense
chr22:38121258	transcript	NM_001039141
chr22:38121258	genomic	g.2695C>G
chr22:38121258	codon	c.2695CGT>GGT
chr22:38121258	protein	p.899R>G
chr22:38121258	worst	missense
chr22:38121258	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38121258	nvar	1
chr22:38121258	var	chr22:38121258:C/G
chr22:38121287	allele_ref	G
chr22:38121287	allele_alt	A
chr22:38121287	seqdb_ref	G
chr22:38121287	snp_fw_seq3	CGT/CAT
chr22:38121287	snp_rv_seq3	ACG/ATG
chr22:38121287	func	silent
chr22:38121287	transcript	NM_001039141
chr22:38121287	genomic	.
chr22:38121287	codon	.
chr22:38121287	protein	.
chr22:38121287	worst	silent
chr22:38121287	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38121287	nvar	1
chr22:38121287	var	chr22:38121287:G/A
chr22:38121631	allele_ref	C
chr22:38121631	allele_alt	T
chr22:38121631	seqdb_ref	C
chr22:38121631	snp_fw_seq3	GCC/GTC
chr22:38121631	snp_rv_seq3	GGC/GAC
chr22:38121631	func	missense
chr22:38121631	transcript	NM_001039141
chr22:38121631	genomic	g.3068C>T
chr22:38121631	codon	c.3068GCC>GTC
chr22:38121631	protein	p.1023A>V
chr22:38121631	worst	missense
chr22:38121631	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38121631	nvar	1
chr22:38121631	var	chr22:38121631:C/T
chr22:38121806	allele_ref	A
chr22:38121806	allele_alt	G
chr22:38121806	seqdb_ref	A
chr22:38121806	snp_fw_seq3	AAT/AGT
chr22:38121806	snp_rv_seq3	ATT/ACT
chr22:38121806	func	silent
chr22:38121806	transcript	NM_001039141
chr22:38121806	genomic	.
chr22:38121806	codon	.
chr22:38121806	protein	.
chr22:38121806	worst	silent
chr22:38121806	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38121806	nvar	1
chr22:38121806	var	chr22:38121806:A/G
chr22:38122122	allele_ref	T
chr22:38122122	allele_alt	C
chr22:38122122	seqdb_ref	T
chr22:38122122	snp_fw_seq3	CTT/CCT
chr22:38122122	snp_rv_seq3	AAG/AGG
chr22:38122122	func	missense
chr22:38122122	transcript	NM_001039141
chr22:38122122	genomic	g.3559T>C
chr22:38122122	codon	c.3559TTC>CTC
chr22:38122122	protein	p.1187F>L
chr22:38122122	worst	missense
chr22:38122122	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38122122	nvar	1
chr22:38122122	var	chr22:38122122:T/C
chr22:38122448	allele_ref	C
chr22:38122448	allele_alt	T
chr22:38122448	seqdb_ref	C
chr22:38122448	snp_fw_seq3	GCG/GTG
chr22:38122448	snp_rv_seq3	CGC/CAC
chr22:38122448	func	silent
chr22:38122448	transcript	NM_001039141
chr22:38122448	genomic	.
chr22:38122448	codon	.
chr22:38122448	protein	.
chr22:38122448	worst	silent
chr22:38122448	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38122448	nvar	1
chr22:38122448	var	chr22:38122448:C/T
chr22:38122462	allele_ref	A
chr22:38122462	allele_alt	G
chr22:38122462	seqdb_ref	A
chr22:38122462	snp_fw_seq3	CAC/CGC
chr22:38122462	snp_rv_seq3	GTG/GCG
chr22:38122462	func	missense
chr22:38122462	transcript	NM_001039141
chr22:38122462	genomic	g.3899A>G
chr22:38122462	codon	c.3899CAC>CGC
chr22:38122462	protein	p.1300H>R
chr22:38122462	worst	missense
chr22:38122462	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38122462	nvar	1
chr22:38122462	var	chr22:38122462:A/G
chr22:38129332	allele_ref	G
chr22:38129332	allele_alt	A
chr22:38129332	seqdb_ref	G
chr22:38129332	snp_fw_seq3	AGG/AAG
chr22:38129332	snp_rv_seq3	CCT/CTT
chr22:38129332	func	silent
chr22:38129332	transcript	NM_001039141
chr22:38129332	genomic	.
chr22:38129332	codon	.
chr22:38129332	protein	.
chr22:38129332	worst	silent
chr22:38129332	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38129332	nvar	1
chr22:38129332	var	chr22:38129332:G/A
chr22:38130375	allele_ref	A
chr22:38130375	allele_alt	C
chr22:38130375	seqdb_ref	A
chr22:38130375	snp_fw_seq3	GAG/GCG
chr22:38130375	snp_rv_seq3	CTC/CGC
chr22:38130375	func	intronic
chr22:38130375	transcript	NM_001039141
chr22:38130375	genomic	.
chr22:38130375	codon	.
chr22:38130375	protein	.
chr22:38130375	worst	intronic
chr22:38130375	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38130375	nvar	1
chr22:38130375	var	chr22:38130375:A/C
chr22:38130385	allele_ref	A
chr22:38130385	allele_alt	C
chr22:38130385	seqdb_ref	A
chr22:38130385	snp_fw_seq3	TAC/TCC
chr22:38130385	snp_rv_seq3	GTA/GGA
chr22:38130385	func	intronic
chr22:38130385	transcript	NM_001039141
chr22:38130385	genomic	.
chr22:38130385	codon	.
chr22:38130385	protein	.
chr22:38130385	worst	intronic
chr22:38130385	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38130385	nvar	1
chr22:38130385	var	chr22:38130385:A/C
chr22:38130459	allele_ref	G
chr22:38130459	allele_alt	T
chr22:38130459	seqdb_ref	G
chr22:38130459	snp_fw_seq3	AGC/ATC
chr22:38130459	snp_rv_seq3	GCT/GAT
chr22:38130459	func	missense
chr22:38130459	transcript	NM_001039141
chr22:38130459	genomic	g.4116G>T
chr22:38130459	codon	c.4116GAG>GAT
chr22:38130459	protein	p.1372E>D
chr22:38130459	worst	missense
chr22:38130459	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38130459	nvar	1
chr22:38130459	var	chr22:38130459:G/T
chr22:38130472	allele_ref	T
chr22:38130472	allele_alt	C
chr22:38130472	seqdb_ref	T
chr22:38130472	snp_fw_seq3	TTG/TCG
chr22:38130472	snp_rv_seq3	CAA/CGA
chr22:38130472	func	missense
chr22:38130472	transcript	NM_001039141
chr22:38130472	genomic	g.4129T>C
chr22:38130472	codon	c.4129TGG>CGG
chr22:38130472	protein	p.1377W>R
chr22:38130472	worst	missense
chr22:38130472	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38130472	nvar	1
chr22:38130472	var	chr22:38130472:T/C
chr22:38130508	allele_ref	C
chr22:38130508	allele_alt	A
chr22:38130508	seqdb_ref	C
chr22:38130508	snp_fw_seq3	GCT/GAT
chr22:38130508	snp_rv_seq3	AGC/ATC
chr22:38130508	func	missense
chr22:38130508	transcript	NM_001039141
chr22:38130508	genomic	g.4165C>A
chr22:38130508	codon	c.4165CTC>ATC
chr22:38130508	protein	p.1389L>I
chr22:38130508	worst	missense
chr22:38130508	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38130508	nvar	1
chr22:38130508	var	chr22:38130508:C/A
chr22:38130521	allele_ref	C
chr22:38130521	allele_alt	T
chr22:38130521	seqdb_ref	C
chr22:38130521	snp_fw_seq3	CCG/CTG
chr22:38130521	snp_rv_seq3	CGG/CAG
chr22:38130521	func	missense
chr22:38130521	transcript	NM_001039141
chr22:38130521	genomic	g.4178C>T
chr22:38130521	codon	c.4178CCG>CTG
chr22:38130521	protein	p.1393P>L
chr22:38130521	worst	missense
chr22:38130521	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38130521	nvar	1
chr22:38130521	var	chr22:38130521:C/T
chr22:38130597	allele_ref	A
chr22:38130597	allele_alt	G
chr22:38130597	seqdb_ref	A
chr22:38130597	snp_fw_seq3	CAG/CGG
chr22:38130597	snp_rv_seq3	CTG/CCG
chr22:38130597	func	silent
chr22:38130597	transcript	NM_001039141
chr22:38130597	genomic	.
chr22:38130597	codon	.
chr22:38130597	protein	.
chr22:38130597	worst	silent
chr22:38130597	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38130597	nvar	1
chr22:38130597	var	chr22:38130597:A/G
chr22:38130642	allele_ref	G
chr22:38130642	allele_alt	A
chr22:38130642	seqdb_ref	G
chr22:38130642	snp_fw_seq3	CGC/CAC
chr22:38130642	snp_rv_seq3	GCG/GTG
chr22:38130642	func	silent
chr22:38130642	transcript	NM_001039141
chr22:38130642	genomic	.
chr22:38130642	codon	.
chr22:38130642	protein	.
chr22:38130642	worst	silent
chr22:38130642	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38130642	nvar	1
chr22:38130642	var	chr22:38130642:G/A
chr22:38130986	allele_ref	C
chr22:38130986	allele_alt	T
chr22:38130986	seqdb_ref	C
chr22:38130986	snp_fw_seq3	CCG/CTG
chr22:38130986	snp_rv_seq3	CGG/CAG
chr22:38130986	func	missense
chr22:38130986	transcript	NM_001039141
chr22:38130986	genomic	g.4643C>T
chr22:38130986	codon	c.4643CCG>CTG
chr22:38130986	protein	p.1548P>L
chr22:38130986	worst	missense
chr22:38130986	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38130986	nvar	1
chr22:38130986	var	chr22:38130986:C/T
chr22:38150836	allele_ref	A
chr22:38150836	allele_alt	G
chr22:38150836	seqdb_ref	A
chr22:38150836	snp_fw_seq3	CAC/CGC
chr22:38150836	snp_rv_seq3	GTG/GCG
chr22:38150836	func	intronic,intronic,intronic
chr22:38150836	transcript	NM_001039141,NM_007032,NM_138632
chr22:38150836	genomic	.,.,.
chr22:38150836	codon	.,.,.
chr22:38150836	protein	.,.,.
chr22:38150836	worst	intronic
chr22:38150836	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38150836	nvar	1
chr22:38150836	var	chr22:38150836:A/G
chr22:38150875	allele_ref	T
chr22:38150875	allele_alt	A
chr22:38150875	seqdb_ref	T
chr22:38150875	snp_fw_seq3	CTC/CAC
chr22:38150875	snp_rv_seq3	GAG/GTG
chr22:38150875	func	intronic,intronic,intronic
chr22:38150875	transcript	NM_001039141,NM_007032,NM_138632
chr22:38150875	genomic	.,.,.
chr22:38150875	codon	.,.,.
chr22:38150875	protein	.,.,.
chr22:38150875	worst	intronic
chr22:38150875	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38150875	nvar	1
chr22:38150875	var	chr22:38150875:T/A
chr22:38151000	allele_ref	A
chr22:38151000	allele_alt	G
chr22:38151000	seqdb_ref	A
chr22:38151000	snp_fw_seq3	CAT/CGT
chr22:38151000	snp_rv_seq3	ATG/ACG
chr22:38151000	func	intronic,intronic,intronic
chr22:38151000	transcript	NM_001039141,NM_007032,NM_138632
chr22:38151000	genomic	.,.,.
chr22:38151000	codon	.,.,.
chr22:38151000	protein	.,.,.
chr22:38151000	worst	intronic
chr22:38151000	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38151000	nvar	1
chr22:38151000	var	chr22:38151000:A/G
chr22:38155219	allele_ref	G
chr22:38155219	allele_alt	C
chr22:38155219	seqdb_ref	G
chr22:38155219	snp_fw_seq3	AGT/ACT
chr22:38155219	snp_rv_seq3	ACT/AGT
chr22:38155219	func	missense,missense,missense
chr22:38155219	transcript	NM_001039141,NM_007032,NM_138632
chr22:38155219	genomic	g.6272G>C,g.1133G>C,g.1133G>C
chr22:38155219	codon	c.6272AGT>ACT,c.1133AGT>ACT,c.1133AGT>ACT
chr22:38155219	protein	p.2091S>T,p.378S>T,p.378S>T
chr22:38155219	worst	missense
chr22:38155219	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38155219	nvar	1
chr22:38155219	var	chr22:38155219:G/C
chr22:38155279	allele_ref	C
chr22:38155279	allele_alt	T
chr22:38155279	seqdb_ref	C
chr22:38155279	snp_fw_seq3	CCG/CTG
chr22:38155279	snp_rv_seq3	CGG/CAG
chr22:38155279	func	intronic,intronic,intronic
chr22:38155279	transcript	NM_001039141,NM_007032,NM_138632
chr22:38155279	genomic	.,.,.
chr22:38155279	codon	.,.,.
chr22:38155279	protein	.,.,.
chr22:38155279	worst	intronic
chr22:38155279	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38155279	nvar	1
chr22:38155279	var	chr22:38155279:C/T
chr22:38155317	allele_ref	C
chr22:38155317	allele_alt	G
chr22:38155317	seqdb_ref	C
chr22:38155317	snp_fw_seq3	GCT/GGT
chr22:38155317	snp_rv_seq3	AGC/ACC
chr22:38155317	func	intronic,intronic,intronic
chr22:38155317	transcript	NM_001039141,NM_007032,NM_138632
chr22:38155317	genomic	.,.,.
chr22:38155317	codon	.,.,.
chr22:38155317	protein	.,.,.
chr22:38155317	worst	intronic
chr22:38155317	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38155317	nvar	1
chr22:38155317	var	chr22:38155317:C/G
chr22:38155497	allele_ref	A
chr22:38155497	allele_alt	G
chr22:38155497	seqdb_ref	a
chr22:38155497	snp_fw_seq3	aag/aGg
chr22:38155497	snp_rv_seq3	ctt/cCt
chr22:38155497	func	intronic,intronic,missense
chr22:38155497	transcript	NM_001039141,NM_007032,NM_138632
chr22:38155497	genomic	.,.,g.1259A>G
chr22:38155497	codon	.,.,c.1259AAG>AGG
chr22:38155497	protein	.,.,p.420K>R
chr22:38155497	worst	missense
chr22:38155497	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38155497	nvar	1
chr22:38155497	var	chr22:38155497:A/G
chr22:38164106	allele_ref	C
chr22:38164106	allele_alt	T
chr22:38164106	seqdb_ref	C
chr22:38164106	snp_fw_seq3	ACC/ATC
chr22:38164106	snp_rv_seq3	GGT/GAT
chr22:38164106	func	silent,silent
chr22:38164106	transcript	NM_001039141,NM_007032
chr22:38164106	genomic	.,.
chr22:38164106	codon	.,.
chr22:38164106	protein	.,.
chr22:38164106	worst	silent
chr22:38164106	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38164106	nvar	1
chr22:38164106	var	chr22:38164106:C/T
chr22:38164179	allele_ref	C
chr22:38164179	allele_alt	T
chr22:38164179	seqdb_ref	C
chr22:38164179	snp_fw_seq3	GCA/GTA
chr22:38164179	snp_rv_seq3	TGC/TAC
chr22:38164179	func	splice,missense,splice,missense
chr22:38164179	annot_details	DIST=-4,NMD=0,OFPTV=1,EXIN=19,ISEQ=GTAAGA,ESEQ=GCACCA,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS19+-4C>T,DIST=-4,NMD=0,OFPTV=1,EXIN=9,ISEQ=GTAAGA,ESEQ=GCACCA,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS9+-4C>T
chr22:38164179	transcript	NM_001039141,NM_001039141,NM_007032,NM_007032
chr22:38164179	genomic	.,g.6571C>T,.,g.1432C>T
chr22:38164179	codon	.,c.6571CAC>TAC,.,c.1432CAC>TAC
chr22:38164179	protein	.,p.2191H>Y,.,p.478H>Y
chr22:38164179	worst	missense
chr22:38164179	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38164179	nvar	1
chr22:38164179	var	chr22:38164179:C/T
chr22:38165339	allele_ref	A
chr22:38165339	allele_alt	G
chr22:38165339	seqdb_ref	A
chr22:38165339	snp_fw_seq3	AAT/AGT
chr22:38165339	snp_rv_seq3	ATT/ACT
chr22:38165339	func	missense,missense
chr22:38165339	transcript	NM_001039141,NM_007032
chr22:38165339	genomic	g.6806A>G,g.1667A>G
chr22:38165339	codon	c.6806AAT>AGT,c.1667AAT>AGT
chr22:38165339	protein	p.2269N>S,p.556N>S
chr22:38165339	worst	missense
chr22:38165339	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38165339	nvar	1
chr22:38165339	var	chr22:38165339:A/G
chr22:38167669	allele_ref	G
chr22:38167669	allele_alt	A
chr22:38167669	seqdb_ref	G
chr22:38167669	snp_fw_seq3	CGT/CAT
chr22:38167669	snp_rv_seq3	ACG/ATG
chr22:38167669	func	missense,missense
chr22:38167669	transcript	NM_001039141,NM_007032
chr22:38167669	genomic	g.6862G>A,g.1723G>A
chr22:38167669	codon	c.6862GTA>ATA,c.1723GTA>ATA
chr22:38167669	protein	p.2288V>I,p.575V>I
chr22:38167669	worst	missense
chr22:38167669	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38167669	nvar	1
chr22:38167669	var	chr22:38167669:G/A
chr22:38167706	allele_ref	T
chr22:38167706	allele_alt	C
chr22:38167706	seqdb_ref	T
chr22:38167706	snp_fw_seq3	GTG/GCG
chr22:38167706	snp_rv_seq3	CAC/CGC
chr22:38167706	func	missense,missense
chr22:38167706	transcript	NM_001039141,NM_007032
chr22:38167706	genomic	g.6899T>C,g.1760T>C
chr22:38167706	codon	c.6899GTG>GCG,c.1760GTG>GCG
chr22:38167706	protein	p.2300V>A,p.587V>A
chr22:38167706	worst	missense
chr22:38167706	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38167706	nvar	1
chr22:38167706	var	chr22:38167706:T/C
chr22:38168578	allele_ref	A
chr22:38168578	allele_alt	G
chr22:38168578	seqdb_ref	A
chr22:38168578	snp_fw_seq3	CAT/CGT
chr22:38168578	snp_rv_seq3	ATG/ACG
chr22:38168578	func	intronic,intronic
chr22:38168578	transcript	NM_001039141,NM_007032
chr22:38168578	genomic	.,.
chr22:38168578	codon	.,.
chr22:38168578	protein	.,.
chr22:38168578	worst	intronic
chr22:38168578	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38168578	nvar	1
chr22:38168578	var	chr22:38168578:A/G
chr22:38168703	allele_ref	G
chr22:38168703	allele_alt	A
chr22:38168703	seqdb_ref	G
chr22:38168703	snp_fw_seq3	AGC/AAC
chr22:38168703	snp_rv_seq3	GCT/GTT
chr22:38168703	func	silent,silent
chr22:38168703	transcript	NM_001039141,NM_007032
chr22:38168703	genomic	.,.
chr22:38168703	codon	.,.
chr22:38168703	protein	.,.
chr22:38168703	worst	silent
chr22:38168703	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38168703	nvar	1
chr22:38168703	var	chr22:38168703:G/A
chr22:38201546	allele_ref	G
chr22:38201546	allele_alt	A
chr22:38201546	seqdb_ref	G
chr22:38201546	snp_fw_seq3	GGC/GAC
chr22:38201546	snp_rv_seq3	GCC/GTC
chr22:38201546	func	5-UTR
chr22:38201546	transcript	NM_005318
chr22:38201546	genomic	.
chr22:38201546	codon	.
chr22:38201546	protein	.
chr22:38201546	worst	UTR5
chr22:38201546	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:38201546	nvar	1
chr22:38201546	var	chr22:38201546:G/A
chr22:38204089	allele_ref	C
chr22:38204089	allele_alt	T
chr22:38204089	seqdb_ref	C
chr22:38204089	snp_fw_seq3	CCG/CTG
chr22:38204089	snp_rv_seq3	CGG/CAG
chr22:38204089	func	missense,missense
chr22:38204089	transcript	NM_001171690,NM_014291
chr22:38204089	genomic	g.115C>T,g.115C>T
chr22:38204089	codon	c.115CGC>TGC,c.115CGC>TGC
chr22:38204089	protein	p.39R>C,p.39R>C
chr22:38204089	worst	missense
chr22:38204089	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38204089	nvar	1
chr22:38204089	var	chr22:38204089:C/T
chr22:38204130	allele_ref	C
chr22:38204130	allele_alt	T
chr22:38204130	seqdb_ref	C
chr22:38204130	snp_fw_seq3	CCC/CTC
chr22:38204130	snp_rv_seq3	GGG/GAG
chr22:38204130	func	silent,silent
chr22:38204130	transcript	NM_001171690,NM_014291
chr22:38204130	genomic	.,.
chr22:38204130	codon	.,.
chr22:38204130	protein	.,.
chr22:38204130	worst	silent
chr22:38204130	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38204130	nvar	1
chr22:38204130	var	chr22:38204130:C/T
chr22:38205989	allele_ref	T
chr22:38205989	allele_alt	C
chr22:38205989	seqdb_ref	T
chr22:38205989	snp_fw_seq3	TTG/TCG
chr22:38205989	snp_rv_seq3	CAA/CGA
chr22:38205989	func	missense,intronic
chr22:38205989	transcript	NM_001171690,NM_014291
chr22:38205989	genomic	g.230T>C,.
chr22:38205989	codon	c.230TTG>TCG,.
chr22:38205989	protein	p.77L>S,.
chr22:38205989	worst	missense
chr22:38205989	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38205989	nvar	1
chr22:38205989	var	chr22:38205989:T/C
chr22:38209627	allele_ref	G
chr22:38209627	allele_alt	A
chr22:38209627	seqdb_ref	G
chr22:38209627	snp_fw_seq3	CGC/CAC
chr22:38209627	snp_rv_seq3	GCG/GTG
chr22:38209627	func	intronic,intronic
chr22:38209627	transcript	NM_001171690,NM_014291
chr22:38209627	genomic	.,.
chr22:38209627	codon	.,.
chr22:38209627	protein	.,.
chr22:38209627	worst	intronic
chr22:38209627	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38209627	nvar	1
chr22:38209627	var	chr22:38209627:G/A
chr22:38209649	allele_ref	C
chr22:38209649	allele_alt	T
chr22:38209649	seqdb_ref	C
chr22:38209649	snp_fw_seq3	CCG/CTG
chr22:38209649	snp_rv_seq3	CGG/CAG
chr22:38209649	func	intronic,intronic
chr22:38209649	transcript	NM_001171690,NM_014291
chr22:38209649	genomic	.,.
chr22:38209649	codon	.,.
chr22:38209649	protein	.,.
chr22:38209649	worst	intronic
chr22:38209649	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38209649	nvar	1
chr22:38209649	var	chr22:38209649:C/T
chr22:38211117	allele_ref	C
chr22:38211117	allele_alt	G
chr22:38211117	seqdb_ref	C
chr22:38211117	snp_fw_seq3	TCA/TGA
chr22:38211117	snp_rv_seq3	TGA/TCA
chr22:38211117	func	intronic,intronic
chr22:38211117	transcript	NM_001171690,NM_014291
chr22:38211117	genomic	.,.
chr22:38211117	codon	.,.
chr22:38211117	protein	.,.
chr22:38211117	worst	intronic
chr22:38211117	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38211117	nvar	1
chr22:38211117	var	chr22:38211117:C/G
chr22:38211711	allele_ref	C
chr22:38211711	allele_alt	T
chr22:38211711	seqdb_ref	C
chr22:38211711	snp_fw_seq3	GCG/GTG
chr22:38211711	snp_rv_seq3	CGC/CAC
chr22:38211711	func	missense,missense
chr22:38211711	transcript	NM_001171690,NM_014291
chr22:38211711	genomic	g.934C>T,g.856C>T
chr22:38211711	codon	c.934CGG>TGG,c.856CGG>TGG
chr22:38211711	protein	p.312R>W,p.286R>W
chr22:38211711	worst	missense
chr22:38211711	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38211711	nvar	1
chr22:38211711	var	chr22:38211711:C/T
chr22:38211728	allele_ref	A
chr22:38211728	allele_alt	G
chr22:38211728	seqdb_ref	A
chr22:38211728	snp_fw_seq3	CAT/CGT
chr22:38211728	snp_rv_seq3	ATG/ACG
chr22:38211728	func	silent,silent
chr22:38211728	transcript	NM_001171690,NM_014291
chr22:38211728	genomic	.,.
chr22:38211728	codon	.,.
chr22:38211728	protein	.,.
chr22:38211728	worst	silent
chr22:38211728	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38211728	nvar	1
chr22:38211728	var	chr22:38211728:A/G
chr22:38212289	allele_ref	C
chr22:38212289	allele_alt	T
chr22:38212289	seqdb_ref	C
chr22:38212289	snp_fw_seq3	CCG/CTG
chr22:38212289	snp_rv_seq3	CGG/CAG
chr22:38212289	func	missense,missense
chr22:38212289	transcript	NM_001171690,NM_014291
chr22:38212289	genomic	g.1147C>T,g.1069C>T
chr22:38212289	codon	c.1147CGG>TGG,c.1069CGG>TGG
chr22:38212289	protein	p.383R>W,p.357R>W
chr22:38212289	worst	missense
chr22:38212289	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38212289	nvar	1
chr22:38212289	var	chr22:38212289:C/T
chr22:38212762	allele_ref	A
chr22:38212762	allele_alt	G
chr22:38212762	seqdb_ref	A
chr22:38212762	snp_fw_seq3	TAC/TGC
chr22:38212762	snp_rv_seq3	GTA/GCA
chr22:38212762	func	intronic,3-UTR
chr22:38212762	transcript	NM_001171690,NM_014291
chr22:38212762	genomic	.,.
chr22:38212762	codon	.,.
chr22:38212762	protein	.,.
chr22:38212762	worst	UTR3
chr22:38212762	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:38212762	nvar	1
chr22:38212762	var	chr22:38212762:A/G
chr22:38219452	allele_ref	G
chr22:38219452	allele_alt	A
chr22:38219452	seqdb_ref	G
chr22:38219452	snp_fw_seq3	GGA/GAA
chr22:38219452	snp_rv_seq3	TCC/TTC
chr22:38219452	func	silent
chr22:38219452	transcript	NM_003614
chr22:38219452	genomic	.
chr22:38219452	codon	.
chr22:38219452	protein	.
chr22:38219452	worst	silent
chr22:38219452	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38219452	nvar	1
chr22:38219452	var	chr22:38219452:G/A
chr22:38219776	allele_ref	C
chr22:38219776	allele_alt	T
chr22:38219776	seqdb_ref	C
chr22:38219776	snp_fw_seq3	GCG/GTG
chr22:38219776	snp_rv_seq3	CGC/CAC
chr22:38219776	func	intronic,splice
chr22:38219776	annot_details	DIST=4,NMD=0,OFPTV=0,EXIN=1,ISEQ=GTGCGC,ESEQ=GGACAG,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS1+4C>T
chr22:38219776	transcript	NM_003614,NM_003614
chr22:38219776	genomic	.,.
chr22:38219776	codon	.,.
chr22:38219776	protein	.,.
chr22:38219776	worst	splice
chr22:38219776	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38219776	nvar	1
chr22:38219776	var	chr22:38219776:C/T
chr22:38220964	allele_ref	T
chr22:38220964	allele_alt	C
chr22:38220964	seqdb_ref	T
chr22:38220964	snp_fw_seq3	CTG/CCG
chr22:38220964	snp_rv_seq3	CAG/CGG
chr22:38220964	func	silent
chr22:38220964	transcript	NM_003614
chr22:38220964	genomic	.
chr22:38220964	codon	.
chr22:38220964	protein	.
chr22:38220964	worst	silent
chr22:38220964	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38220964	nvar	1
chr22:38220964	var	chr22:38220964:T/C
chr22:38234648	allele_ref	G
chr22:38234648	allele_alt	A
chr22:38234648	seqdb_ref	G
chr22:38234648	snp_fw_seq3	CGA/CAA
chr22:38234648	snp_rv_seq3	TCG/TTG
chr22:38234648	func	intronic,intronic
chr22:38234648	transcript	NM_138797,NR_036556
chr22:38234648	genomic	.,.
chr22:38234648	codon	.,.
chr22:38234648	protein	.,.
chr22:38234648	worst	intronic
chr22:38234648	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38234648	nvar	1
chr22:38234648	var	chr22:38234648:G/A
chr22:38245456	allele_ref	C
chr22:38245456	allele_alt	T
chr22:38245456	seqdb_ref	C
chr22:38245456	snp_fw_seq3	CCA/CTA
chr22:38245456	snp_rv_seq3	TGG/TAG
chr22:38245456	func	5-UTR,5-UTR
chr22:38245456	transcript	NM_001242923,NM_016091
chr22:38245456	genomic	.,.
chr22:38245456	codon	.,.
chr22:38245456	protein	.,.
chr22:38245456	worst	UTR5
chr22:38245456	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=2,UTR3=0,npcRNA=0
chr22:38245456	nvar	1
chr22:38245456	var	chr22:38245456:C/T
chr22:38251629	allele_ref	C
chr22:38251629	allele_alt	G
chr22:38251629	seqdb_ref	C
chr22:38251629	snp_fw_seq3	CCA/CGA
chr22:38251629	snp_rv_seq3	TGG/TCG
chr22:38251629	func	silent,silent
chr22:38251629	transcript	NM_001242923,NM_016091
chr22:38251629	genomic	.,.
chr22:38251629	codon	.,.
chr22:38251629	protein	.,.
chr22:38251629	worst	silent
chr22:38251629	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38251629	nvar	1
chr22:38251629	var	chr22:38251629:C/G
chr22:38251686	allele_ref	T
chr22:38251686	allele_alt	C
chr22:38251686	seqdb_ref	T
chr22:38251686	snp_fw_seq3	GTG/GCG
chr22:38251686	snp_rv_seq3	CAC/CGC
chr22:38251686	func	intronic,intronic
chr22:38251686	transcript	NM_001242923,NM_016091
chr22:38251686	genomic	.,.
chr22:38251686	codon	.,.
chr22:38251686	protein	.,.
chr22:38251686	worst	intronic
chr22:38251686	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38251686	nvar	1
chr22:38251686	var	chr22:38251686:T/C
chr22:38266376	allele_ref	C
chr22:38266376	allele_alt	G
chr22:38266376	seqdb_ref	C
chr22:38266376	snp_fw_seq3	GCC/GGC
chr22:38266376	snp_rv_seq3	GGC/GCC
chr22:38266376	func	intronic,intronic
chr22:38266376	transcript	NM_001242923,NM_016091
chr22:38266376	genomic	.,.
chr22:38266376	codon	.,.
chr22:38266376	protein	.,.
chr22:38266376	worst	intronic
chr22:38266376	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38266376	nvar	1
chr22:38266376	var	chr22:38266376:C/G
chr22:38266378	allele_ref	G
chr22:38266378	allele_alt	A
chr22:38266378	seqdb_ref	G
chr22:38266378	snp_fw_seq3	CGT/CAT
chr22:38266378	snp_rv_seq3	ACG/ATG
chr22:38266378	func	intronic,intronic
chr22:38266378	transcript	NM_001242923,NM_016091
chr22:38266378	genomic	.,.
chr22:38266378	codon	.,.
chr22:38266378	protein	.,.
chr22:38266378	worst	intronic
chr22:38266378	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38266378	nvar	1
chr22:38266378	var	chr22:38266378:G/A
chr22:38270568	allele_ref	C
chr22:38270568	allele_alt	T
chr22:38270568	seqdb_ref	C
chr22:38270568	snp_fw_seq3	CCA/CTA
chr22:38270568	snp_rv_seq3	TGG/TAG
chr22:38270568	func	intronic,intronic
chr22:38270568	transcript	NM_001242923,NM_016091
chr22:38270568	genomic	.,.
chr22:38270568	codon	.,.
chr22:38270568	protein	.,.
chr22:38270568	worst	intronic
chr22:38270568	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38270568	nvar	1
chr22:38270568	var	chr22:38270568:C/T
chr22:38273710	allele_ref	G
chr22:38273710	allele_alt	A
chr22:38273710	seqdb_ref	G
chr22:38273710	snp_fw_seq3	CGC/CAC
chr22:38273710	snp_rv_seq3	GCG/GTG
chr22:38273710	func	silent,silent
chr22:38273710	transcript	NM_001242923,NM_016091
chr22:38273710	genomic	.,.
chr22:38273710	codon	.,.
chr22:38273710	protein	.,.
chr22:38273710	worst	silent
chr22:38273710	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38273710	nvar	1
chr22:38273710	var	chr22:38273710:G/A
chr22:38273749	allele_ref	T
chr22:38273749	allele_alt	C
chr22:38273749	seqdb_ref	T
chr22:38273749	snp_fw_seq3	TTG/TCG
chr22:38273749	snp_rv_seq3	CAA/CGA
chr22:38273749	func	silent,silent
chr22:38273749	transcript	NM_001242923,NM_016091
chr22:38273749	genomic	.,.
chr22:38273749	codon	.,.
chr22:38273749	protein	.,.
chr22:38273749	worst	silent
chr22:38273749	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38273749	nvar	1
chr22:38273749	var	chr22:38273749:T/C
chr22:38284477	allele_ref	T
chr22:38284477	allele_alt	C
chr22:38284477	seqdb_ref	T
chr22:38284477	snp_fw_seq3	ATT/ACT
chr22:38284477	snp_rv_seq3	AAT/AGT
chr22:38284477	func	3-UTR,3-UTR
chr22:38284477	transcript	NM_001242923,NM_016091
chr22:38284477	genomic	.,.
chr22:38284477	codon	.,.
chr22:38284477	protein	.,.
chr22:38284477	worst	UTR3
chr22:38284477	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:38284477	nvar	1
chr22:38284477	var	chr22:38284477:T/C
chr22:38307909	allele_ref	T
chr22:38307909	allele_alt	C
chr22:38307909	seqdb_ref	T
chr22:38307909	snp_fw_seq3	TTC/TCC
chr22:38307909	snp_rv_seq3	GAA/GGA
chr22:38307909	func	intronic
chr22:38307909	transcript	NM_033386
chr22:38307909	genomic	.
chr22:38307909	codon	.
chr22:38307909	protein	.
chr22:38307909	worst	intronic
chr22:38307909	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38307909	nvar	1
chr22:38307909	var	chr22:38307909:T/C
chr22:38313724	allele_ref	G
chr22:38313724	allele_alt	A
chr22:38313724	seqdb_ref	G
chr22:38313724	snp_fw_seq3	CGC/CAC
chr22:38313724	snp_rv_seq3	GCG/GTG
chr22:38313724	func	silent
chr22:38313724	transcript	NM_033386
chr22:38313724	genomic	.
chr22:38313724	codon	.
chr22:38313724	protein	.
chr22:38313724	worst	silent
chr22:38313724	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38313724	nvar	1
chr22:38313724	var	chr22:38313724:G/A
chr22:38313787	allele_ref	A
chr22:38313787	allele_alt	T
chr22:38313787	seqdb_ref	A
chr22:38313787	snp_fw_seq3	CAG/CTG
chr22:38313787	snp_rv_seq3	CTG/CAG
chr22:38313787	func	silent
chr22:38313787	transcript	NM_033386
chr22:38313787	genomic	.
chr22:38313787	codon	.
chr22:38313787	protein	.
chr22:38313787	worst	silent
chr22:38313787	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38313787	nvar	1
chr22:38313787	var	chr22:38313787:A/T
chr22:38317930	allele_ref	C
chr22:38317930	allele_alt	T
chr22:38317930	seqdb_ref	C
chr22:38317930	snp_fw_seq3	CCT/CTT
chr22:38317930	snp_rv_seq3	AGG/AAG
chr22:38317930	func	intronic
chr22:38317930	transcript	NM_033386
chr22:38317930	genomic	.
chr22:38317930	codon	.
chr22:38317930	protein	.
chr22:38317930	worst	intronic
chr22:38317930	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38317930	nvar	1
chr22:38317930	var	chr22:38317930:C/T
chr22:38317938	allele_ref	A
chr22:38317938	allele_alt	G
chr22:38317938	seqdb_ref	A
chr22:38317938	snp_fw_seq3	CAG/CGG
chr22:38317938	snp_rv_seq3	CTG/CCG
chr22:38317938	func	intronic
chr22:38317938	transcript	NM_033386
chr22:38317938	genomic	.
chr22:38317938	codon	.
chr22:38317938	protein	.
chr22:38317938	worst	intronic
chr22:38317938	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38317938	nvar	1
chr22:38317938	var	chr22:38317938:A/G
chr22:38318029	allele_ref	C
chr22:38318029	allele_alt	T
chr22:38318029	seqdb_ref	C
chr22:38318029	snp_fw_seq3	CCT/CTT
chr22:38318029	snp_rv_seq3	AGG/AAG
chr22:38318029	func	missense
chr22:38318029	transcript	NM_033386
chr22:38318029	genomic	g.620C>T
chr22:38318029	codon	c.620CCT>CTT
chr22:38318029	protein	p.207P>L
chr22:38318029	worst	missense
chr22:38318029	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38318029	nvar	1
chr22:38318029	var	chr22:38318029:C/T
chr22:38323611	allele_ref	C
chr22:38323611	allele_alt	T
chr22:38323611	seqdb_ref	C
chr22:38323611	snp_fw_seq3	GCC/GTC
chr22:38323611	snp_rv_seq3	GGC/GAC
chr22:38323611	func	silent
chr22:38323611	transcript	NM_033386
chr22:38323611	genomic	.
chr22:38323611	codon	.
chr22:38323611	protein	.
chr22:38323611	worst	silent
chr22:38323611	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38323611	nvar	1
chr22:38323611	var	chr22:38323611:C/T
chr22:38323700	allele_ref	C
chr22:38323700	allele_alt	T
chr22:38323700	seqdb_ref	C
chr22:38323700	snp_fw_seq3	CCC/CTC
chr22:38323700	snp_rv_seq3	GGG/GAG
chr22:38323700	func	missense
chr22:38323700	transcript	NM_033386
chr22:38323700	genomic	g.1748C>T
chr22:38323700	codon	c.1748CCC>CTC
chr22:38323700	protein	p.583P>L
chr22:38323700	worst	missense
chr22:38323700	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38323700	nvar	1
chr22:38323700	var	chr22:38323700:C/T
chr22:38327894	allele_ref	T
chr22:38327894	allele_alt	C
chr22:38327894	seqdb_ref	T
chr22:38327894	snp_fw_seq3	GTG/GCG
chr22:38327894	snp_rv_seq3	CAC/CGC
chr22:38327894	func	missense
chr22:38327894	transcript	NM_033386
chr22:38327894	genomic	g.1970T>C
chr22:38327894	codon	c.1970GTG>GCG
chr22:38327894	protein	p.657V>A
chr22:38327894	worst	missense
chr22:38327894	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38327894	nvar	1
chr22:38327894	var	chr22:38327894:T/C
chr22:38327929	allele_ref	A
chr22:38327929	allele_alt	C
chr22:38327929	seqdb_ref	A
chr22:38327929	snp_fw_seq3	CAT/CCT
chr22:38327929	snp_rv_seq3	ATG/AGG
chr22:38327929	func	missense
chr22:38327929	transcript	NM_033386
chr22:38327929	genomic	g.2005A>C
chr22:38327929	codon	c.2005ATC>CTC
chr22:38327929	protein	p.669I>L
chr22:38327929	worst	missense
chr22:38327929	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38327929	nvar	1
chr22:38327929	var	chr22:38327929:A/C
chr22:38327978	allele_ref	G
chr22:38327978	allele_alt	A
chr22:38327978	seqdb_ref	G
chr22:38327978	snp_fw_seq3	GGG/GAG
chr22:38327978	snp_rv_seq3	CCC/CTC
chr22:38327978	func	intronic
chr22:38327978	transcript	NM_033386
chr22:38327978	genomic	.
chr22:38327978	codon	.
chr22:38327978	protein	.
chr22:38327978	worst	intronic
chr22:38327978	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38327978	nvar	1
chr22:38327978	var	chr22:38327978:G/A
chr22:38340167	allele_ref	G
chr22:38340167	allele_alt	A
chr22:38340167	seqdb_ref	G
chr22:38340167	snp_fw_seq3	CGT/CAT
chr22:38340167	snp_rv_seq3	ACG/ATG
chr22:38340167	func	3-UTR,3-UTR
chr22:38340167	transcript	NM_001207062,NM_032561
chr22:38340167	genomic	.,.
chr22:38340167	codon	.,.
chr22:38340167	protein	.,.
chr22:38340167	worst	UTR3
chr22:38340167	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:38340167	nvar	1
chr22:38340167	var	chr22:38340167:G/A
chr22:38340541	allele_ref	G
chr22:38340541	allele_alt	A
chr22:38340541	seqdb_ref	G
chr22:38340541	snp_fw_seq3	GGC/GAC
chr22:38340541	snp_rv_seq3	GCC/GTC
chr22:38340541	func	intronic,intronic
chr22:38340541	transcript	NM_001207062,NM_032561
chr22:38340541	genomic	.,.
chr22:38340541	codon	.,.
chr22:38340541	protein	.,.
chr22:38340541	worst	intronic
chr22:38340541	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38340541	nvar	1
chr22:38340541	var	chr22:38340541:G/A
chr22:38341124	allele_ref	T
chr22:38341124	allele_alt	G
chr22:38341124	seqdb_ref	T
chr22:38341124	snp_fw_seq3	ATG/AGG
chr22:38341124	snp_rv_seq3	CAT/CCT
chr22:38341124	func	missense,missense
chr22:38341124	transcript	NM_001207062,NM_032561
chr22:38341124	genomic	g.343T>G,g.406T>G
chr22:38341124	codon	c.343ATG>CTG,c.406ATG>CTG
chr22:38341124	protein	p.115M>L,p.136M>L
chr22:38341124	worst	missense
chr22:38341124	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38341124	nvar	1
chr22:38341124	var	chr22:38341124:T/G
chr22:38341134	allele_ref	T
chr22:38341134	allele_alt	C
chr22:38341134	seqdb_ref	T
chr22:38341134	snp_fw_seq3	CTG/CCG
chr22:38341134	snp_rv_seq3	CAG/CGG
chr22:38341134	func	silent,silent
chr22:38341134	transcript	NM_001207062,NM_032561
chr22:38341134	genomic	.,.
chr22:38341134	codon	.,.
chr22:38341134	protein	.,.
chr22:38341134	worst	silent
chr22:38341134	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38341134	nvar	1
chr22:38341134	var	chr22:38341134:T/C
chr22:38347490	allele_ref	C
chr22:38347490	allele_alt	A
chr22:38347490	seqdb_ref	C
chr22:38347490	snp_fw_seq3	GCG/GAG
chr22:38347490	snp_rv_seq3	CGC/CTC
chr22:38347490	func	intronic,missense
chr22:38347490	transcript	NM_001207062,NM_032561
chr22:38347490	genomic	.,g.143C>A
chr22:38347490	codon	.,c.143CGC>CTC
chr22:38347490	protein	.,p.48R>L
chr22:38347490	worst	missense
chr22:38347490	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38347490	nvar	1
chr22:38347490	var	chr22:38347490:C/A
chr22:38349030	allele_ref	G
chr22:38349030	allele_alt	A
chr22:38349030	seqdb_ref	g
chr22:38349030	snp_fw_seq3	ggg/gAg
chr22:38349030	snp_rv_seq3	ccc/cTc
chr22:38349030	func	intronic,intronic
chr22:38349030	transcript	NM_001207062,NM_032561
chr22:38349030	genomic	.,.
chr22:38349030	codon	.,.
chr22:38349030	protein	.,.
chr22:38349030	worst	intronic
chr22:38349030	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38349030	nvar	1
chr22:38349030	var	chr22:38349030:G/A
chr22:38352789	allele_ref	C
chr22:38352789	allele_alt	T
chr22:38352789	seqdb_ref	C
chr22:38352789	snp_fw_seq3	GCG/GTG
chr22:38352789	snp_rv_seq3	CGC/CAC
chr22:38352789	func	silent
chr22:38352789	transcript	NM_021974
chr22:38352789	genomic	.
chr22:38352789	codon	.
chr22:38352789	protein	.
chr22:38352789	worst	silent
chr22:38352789	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38352789	nvar	1
chr22:38352789	var	chr22:38352789:C/T
chr22:38355343	allele_ref	T
chr22:38355343	allele_alt	C
chr22:38355343	seqdb_ref	T
chr22:38355343	snp_fw_seq3	TTG/TCG
chr22:38355343	snp_rv_seq3	CAA/CGA
chr22:38355343	func	intronic
chr22:38355343	transcript	NM_021974
chr22:38355343	genomic	.
chr22:38355343	codon	.
chr22:38355343	protein	.
chr22:38355343	worst	intronic
chr22:38355343	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38355343	nvar	1
chr22:38355343	var	chr22:38355343:T/C
chr22:38369976	allele_ref	A
chr22:38369976	allele_alt	G
chr22:38369976	seqdb_ref	A
chr22:38369976	snp_fw_seq3	CAT/CGT
chr22:38369976	snp_rv_seq3	ATG/ACG
chr22:38369976	func	silent
chr22:38369976	transcript	NM_006941
chr22:38369976	genomic	.
chr22:38369976	codon	.
chr22:38369976	protein	.
chr22:38369976	worst	silent
chr22:38369976	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38369976	nvar	1
chr22:38369976	var	chr22:38369976:A/G
chr22:38379543	allele_ref	G
chr22:38379543	allele_alt	A
chr22:38379543	seqdb_ref	G
chr22:38379543	snp_fw_seq3	CGT/CAT
chr22:38379543	snp_rv_seq3	ACG/ATG
chr22:38379543	func	silent
chr22:38379543	transcript	NM_006941
chr22:38379543	genomic	.
chr22:38379543	codon	.
chr22:38379543	protein	.
chr22:38379543	worst	silent
chr22:38379543	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38379543	nvar	1
chr22:38379543	var	chr22:38379543:G/A
chr22:38460984	allele_ref	C
chr22:38460984	allele_alt	T
chr22:38460984	seqdb_ref	C
chr22:38460984	snp_fw_seq3	CCA/CTA
chr22:38460984	snp_rv_seq3	TGG/TAG
chr22:38460984	func	intronic,intronic,intronic
chr22:38460984	transcript	NM_001039583,NM_001039584,NM_012407
chr22:38460984	genomic	.,.,.
chr22:38460984	codon	.,.,.
chr22:38460984	protein	.,.,.
chr22:38460984	worst	intronic
chr22:38460984	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38460984	nvar	1
chr22:38460984	var	chr22:38460984:C/T
chr22:38467759	allele_ref	C
chr22:38467759	allele_alt	T
chr22:38467759	seqdb_ref	C
chr22:38467759	snp_fw_seq3	GCA/GTA
chr22:38467759	snp_rv_seq3	TGC/TAC
chr22:38467759	func	intronic,intronic,intronic
chr22:38467759	transcript	NM_001039583,NM_001039584,NM_012407
chr22:38467759	genomic	.,.,.
chr22:38467759	codon	.,.,.
chr22:38467759	protein	.,.,.
chr22:38467759	worst	intronic
chr22:38467759	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38467759	nvar	1
chr22:38467759	var	chr22:38467759:C/T
chr22:38467784	allele_ref	G
chr22:38467784	allele_alt	C
chr22:38467784	seqdb_ref	G
chr22:38467784	snp_fw_seq3	CGT/CCT
chr22:38467784	snp_rv_seq3	ACG/AGG
chr22:38467784	func	intronic,intronic,intronic
chr22:38467784	transcript	NM_001039583,NM_001039584,NM_012407
chr22:38467784	genomic	.,.,.
chr22:38467784	codon	.,.,.
chr22:38467784	protein	.,.,.
chr22:38467784	worst	intronic
chr22:38467784	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38467784	nvar	1
chr22:38467784	var	chr22:38467784:G/C
chr22:38468578	allele_ref	C
chr22:38468578	allele_alt	T
chr22:38468578	seqdb_ref	C
chr22:38468578	snp_fw_seq3	TCG/TTG
chr22:38468578	snp_rv_seq3	CGA/CAA
chr22:38468578	func	silent,silent,silent
chr22:38468578	transcript	NM_001039583,NM_001039584,NM_012407
chr22:38468578	genomic	.,.,.
chr22:38468578	codon	.,.,.
chr22:38468578	protein	.,.,.
chr22:38468578	worst	silent
chr22:38468578	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38468578	nvar	1
chr22:38468578	var	chr22:38468578:C/T
chr22:38468632	allele_ref	G
chr22:38468632	allele_alt	A
chr22:38468632	seqdb_ref	G
chr22:38468632	snp_fw_seq3	AGC/AAC
chr22:38468632	snp_rv_seq3	GCT/GTT
chr22:38468632	func	intronic,intronic,intronic
chr22:38468632	transcript	NM_001039583,NM_001039584,NM_012407
chr22:38468632	genomic	.,.,.
chr22:38468632	codon	.,.,.
chr22:38468632	protein	.,.,.
chr22:38468632	worst	intronic
chr22:38468632	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38468632	nvar	1
chr22:38468632	var	chr22:38468632:G/A
chr22:38468644	allele_ref	C
chr22:38468644	allele_alt	T
chr22:38468644	seqdb_ref	C
chr22:38468644	snp_fw_seq3	TCT/TTT
chr22:38468644	snp_rv_seq3	AGA/AAA
chr22:38468644	func	intronic,intronic,intronic
chr22:38468644	transcript	NM_001039583,NM_001039584,NM_012407
chr22:38468644	genomic	.,.,.
chr22:38468644	codon	.,.,.
chr22:38468644	protein	.,.,.
chr22:38468644	worst	intronic
chr22:38468644	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38468644	nvar	1
chr22:38468644	var	chr22:38468644:C/T
chr22:38470837	allele_ref	C
chr22:38470837	allele_alt	G
chr22:38470837	seqdb_ref	C
chr22:38470837	snp_fw_seq3	CCC/CGC
chr22:38470837	snp_rv_seq3	GGG/GCG
chr22:38470837	func	intronic,intronic,intronic
chr22:38470837	transcript	NM_001039583,NM_001039584,NM_012407
chr22:38470837	genomic	.,.,.
chr22:38470837	codon	.,.,.
chr22:38470837	protein	.,.,.
chr22:38470837	worst	intronic
chr22:38470837	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38470837	nvar	1
chr22:38470837	var	chr22:38470837:C/G
chr22:38474696	allele_ref	A
chr22:38474696	allele_alt	G
chr22:38474696	seqdb_ref	A
chr22:38474696	snp_fw_seq3	CAC/CGC
chr22:38474696	snp_rv_seq3	GTG/GCG
chr22:38474696	func	missense
chr22:38474696	transcript	NM_013356
chr22:38474696	genomic	g.1214A>G
chr22:38474696	codon	c.1214GTG>GCG
chr22:38474696	protein	p.405V>A
chr22:38474696	worst	missense
chr22:38474696	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38474696	nvar	1
chr22:38474696	var	chr22:38474696:A/G
chr22:38476946	allele_ref	C
chr22:38476946	allele_alt	T
chr22:38476946	seqdb_ref	C
chr22:38476946	snp_fw_seq3	ACC/ATC
chr22:38476946	snp_rv_seq3	GGT/GAT
chr22:38476946	func	missense
chr22:38476946	transcript	NM_013356
chr22:38476946	genomic	g.1099C>T
chr22:38476946	codon	c.1099GTG>ATG
chr22:38476946	protein	p.367V>M
chr22:38476946	worst	missense
chr22:38476946	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38476946	nvar	1
chr22:38476946	var	chr22:38476946:C/T
chr22:38477070	allele_ref	C
chr22:38477070	allele_alt	T
chr22:38477070	seqdb_ref	C
chr22:38477070	snp_fw_seq3	CCA/CTA
chr22:38477070	snp_rv_seq3	TGG/TAG
chr22:38477070	func	silent
chr22:38477070	transcript	NM_013356
chr22:38477070	genomic	.
chr22:38477070	codon	.
chr22:38477070	protein	.
chr22:38477070	worst	silent
chr22:38477070	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38477070	nvar	1
chr22:38477070	var	chr22:38477070:C/T
chr22:38477106	allele_ref	C
chr22:38477106	allele_alt	T
chr22:38477106	seqdb_ref	C
chr22:38477106	snp_fw_seq3	GCG/GTG
chr22:38477106	snp_rv_seq3	CGC/CAC
chr22:38477106	func	silent
chr22:38477106	transcript	NM_013356
chr22:38477106	genomic	.
chr22:38477106	codon	.
chr22:38477106	protein	.
chr22:38477106	worst	silent
chr22:38477106	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38477106	nvar	1
chr22:38477106	var	chr22:38477106:C/T
chr22:38477342	allele_ref	T
chr22:38477342	allele_alt	A
chr22:38477342	seqdb_ref	T
chr22:38477342	snp_fw_seq3	CTG/CAG
chr22:38477342	snp_rv_seq3	CAG/CTG
chr22:38477342	func	missense
chr22:38477342	transcript	NM_013356
chr22:38477342	genomic	g.703T>A
chr22:38477342	codon	c.703AGG>TGG
chr22:38477342	protein	p.235R>W
chr22:38477342	worst	missense
chr22:38477342	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38477342	nvar	1
chr22:38477342	var	chr22:38477342:T/A
chr22:38477589	allele_ref	G
chr22:38477589	allele_alt	T
chr22:38477589	seqdb_ref	G
chr22:38477589	snp_fw_seq3	TGC/TTC
chr22:38477589	snp_rv_seq3	GCA/GAA
chr22:38477589	func	silent
chr22:38477589	transcript	NM_013356
chr22:38477589	genomic	.
chr22:38477589	codon	.
chr22:38477589	protein	.
chr22:38477589	worst	silent
chr22:38477589	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38477589	nvar	1
chr22:38477589	var	chr22:38477589:G/T
chr22:38477930	allele_ref	G
chr22:38477930	allele_alt	A
chr22:38477930	seqdb_ref	G
chr22:38477930	snp_fw_seq3	GGA/GAA
chr22:38477930	snp_rv_seq3	TCC/TTC
chr22:38477930	func	silent
chr22:38477930	transcript	NM_013356
chr22:38477930	genomic	.
chr22:38477930	codon	.
chr22:38477930	protein	.
chr22:38477930	worst	silent
chr22:38477930	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38477930	nvar	1
chr22:38477930	var	chr22:38477930:G/A
chr22:38477937	allele_ref	G
chr22:38477937	allele_alt	T
chr22:38477937	seqdb_ref	G
chr22:38477937	snp_fw_seq3	CGT/CTT
chr22:38477937	snp_rv_seq3	ACG/AAG
chr22:38477937	func	missense
chr22:38477937	transcript	NM_013356
chr22:38477937	genomic	g.317G>T
chr22:38477937	codon	c.317ACG>AAG
chr22:38477937	protein	p.106T>K
chr22:38477937	worst	missense
chr22:38477937	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38477937	nvar	1
chr22:38477937	var	chr22:38477937:G/T
chr22:38481287	allele_ref	G
chr22:38481287	allele_alt	A
chr22:38481287	seqdb_ref	G
chr22:38481287	snp_fw_seq3	GGT/GAT
chr22:38481287	snp_rv_seq3	ACC/ATC
chr22:38481287	func	3-UTR
chr22:38481287	transcript	NM_025045
chr22:38481287	genomic	.
chr22:38481287	codon	.
chr22:38481287	protein	.
chr22:38481287	worst	UTR3
chr22:38481287	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:38481287	nvar	1
chr22:38481287	var	chr22:38481287:G/A
chr22:38481297	allele_ref	G
chr22:38481297	allele_alt	A
chr22:38481297	seqdb_ref	G
chr22:38481297	snp_fw_seq3	CGG/CAG
chr22:38481297	snp_rv_seq3	CCG/CTG
chr22:38481297	func	3-UTR
chr22:38481297	transcript	NM_025045
chr22:38481297	genomic	.
chr22:38481297	codon	.
chr22:38481297	protein	.
chr22:38481297	worst	UTR3
chr22:38481297	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:38481297	nvar	1
chr22:38481297	var	chr22:38481297:G/A
chr22:38481643	allele_ref	G
chr22:38481643	allele_alt	A
chr22:38481643	seqdb_ref	g
chr22:38481643	snp_fw_seq3	cgc/cAc
chr22:38481643	snp_rv_seq3	gcg/gTg
chr22:38481643	func	intronic
chr22:38481643	transcript	NM_025045
chr22:38481643	genomic	.
chr22:38481643	codon	.
chr22:38481643	protein	.
chr22:38481643	worst	intronic
chr22:38481643	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38481643	nvar	1
chr22:38481643	var	chr22:38481643:G/A
chr22:38485064	allele_ref	C
chr22:38485064	allele_alt	G
chr22:38485064	seqdb_ref	C
chr22:38485064	snp_fw_seq3	TCT/TGT
chr22:38485064	snp_rv_seq3	AGA/ACA
chr22:38485064	func	intronic
chr22:38485064	transcript	NM_025045
chr22:38485064	genomic	.
chr22:38485064	codon	.
chr22:38485064	protein	.
chr22:38485064	worst	intronic
chr22:38485064	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38485064	nvar	1
chr22:38485064	var	chr22:38485064:C/G
chr22:38494040	allele_ref	T
chr22:38494040	allele_alt	A
chr22:38494040	seqdb_ref	T
chr22:38494040	snp_fw_seq3	CTG/CAG
chr22:38494040	snp_rv_seq3	CAG/CTG
chr22:38494040	func	intronic
chr22:38494040	transcript	NM_025045
chr22:38494040	genomic	.
chr22:38494040	codon	.
chr22:38494040	protein	.
chr22:38494040	worst	intronic
chr22:38494040	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38494040	nvar	1
chr22:38494040	var	chr22:38494040:T/A
chr22:38503847	allele_ref	C
chr22:38503847	allele_alt	T
chr22:38503847	seqdb_ref	C
chr22:38503847	snp_fw_seq3	GCC/GTC
chr22:38503847	snp_rv_seq3	GGC/GAC
chr22:38503847	func	intronic
chr22:38503847	transcript	NM_025045
chr22:38503847	genomic	.
chr22:38503847	codon	.
chr22:38503847	protein	.
chr22:38503847	worst	intronic
chr22:38503847	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38503847	nvar	1
chr22:38503847	var	chr22:38503847:C/T
chr22:38503967	allele_ref	C
chr22:38503967	allele_alt	T
chr22:38503967	seqdb_ref	C
chr22:38503967	snp_fw_seq3	CCC/CTC
chr22:38503967	snp_rv_seq3	GGG/GAG
chr22:38503967	func	intronic
chr22:38503967	transcript	NM_025045
chr22:38503967	genomic	.
chr22:38503967	codon	.
chr22:38503967	protein	.
chr22:38503967	worst	intronic
chr22:38503967	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38503967	nvar	1
chr22:38503967	var	chr22:38503967:C/T
chr22:38503968	allele_ref	C
chr22:38503968	allele_alt	T
chr22:38503968	seqdb_ref	C
chr22:38503968	snp_fw_seq3	CCG/CTG
chr22:38503968	snp_rv_seq3	CGG/CAG
chr22:38503968	func	intronic
chr22:38503968	transcript	NM_025045
chr22:38503968	genomic	.
chr22:38503968	codon	.
chr22:38503968	protein	.
chr22:38503968	worst	intronic
chr22:38503968	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38503968	nvar	1
chr22:38503968	var	chr22:38503968:C/T
chr22:38504372	allele_ref	T
chr22:38504372	allele_alt	C
chr22:38504372	seqdb_ref	T
chr22:38504372	snp_fw_seq3	CTG/CCG
chr22:38504372	snp_rv_seq3	CAG/CGG
chr22:38504372	func	intronic
chr22:38504372	transcript	NM_025045
chr22:38504372	genomic	.
chr22:38504372	codon	.
chr22:38504372	protein	.
chr22:38504372	worst	intronic
chr22:38504372	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38504372	nvar	1
chr22:38504372	var	chr22:38504372:T/C
chr22:38506509	allele_ref	A
chr22:38506509	allele_alt	G
chr22:38506509	seqdb_ref	A
chr22:38506509	snp_fw_seq3	AAA/AGA
chr22:38506509	snp_rv_seq3	TTT/TCT
chr22:38506509	func	silent
chr22:38506509	transcript	NM_025045
chr22:38506509	genomic	.
chr22:38506509	codon	.
chr22:38506509	protein	.
chr22:38506509	worst	silent
chr22:38506509	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38506509	nvar	1
chr22:38506509	var	chr22:38506509:A/G
chr22:38508468	allele_ref	C
chr22:38508468	allele_alt	T
chr22:38508468	seqdb_ref	C
chr22:38508468	snp_fw_seq3	ACG/ATG
chr22:38508468	snp_rv_seq3	CGT/CAT
chr22:38508468	func	intronic,intronic,intronic
chr22:38508468	transcript	NM_001004426,NM_001199562,NM_003560
chr22:38508468	genomic	.,.,.
chr22:38508468	codon	.,.,.
chr22:38508468	protein	.,.,.
chr22:38508468	worst	intronic
chr22:38508468	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38508468	nvar	1
chr22:38508468	var	chr22:38508468:C/T
chr22:38516753	allele_ref	C
chr22:38516753	allele_alt	A
chr22:38516753	seqdb_ref	C
chr22:38516753	snp_fw_seq3	GCG/GAG
chr22:38516753	snp_rv_seq3	CGC/CTC
chr22:38516753	func	intronic,intronic,intronic
chr22:38516753	transcript	NM_001004426,NM_001199562,NM_003560
chr22:38516753	genomic	.,.,.
chr22:38516753	codon	.,.,.
chr22:38516753	protein	.,.,.
chr22:38516753	worst	intronic
chr22:38516753	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38516753	nvar	1
chr22:38516753	var	chr22:38516753:C/A
chr22:38524228	allele_ref	G
chr22:38524228	allele_alt	A
chr22:38524228	seqdb_ref	G
chr22:38524228	snp_fw_seq3	GGG/GAG
chr22:38524228	snp_rv_seq3	CCC/CTC
chr22:38524228	func	intronic,intronic,intronic
chr22:38524228	transcript	NM_001004426,NM_001199562,NM_003560
chr22:38524228	genomic	.,.,.
chr22:38524228	codon	.,.,.
chr22:38524228	protein	.,.,.
chr22:38524228	worst	intronic
chr22:38524228	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38524228	nvar	1
chr22:38524228	var	chr22:38524228:G/A
chr22:38525561	allele_ref	G
chr22:38525561	allele_alt	A
chr22:38525561	seqdb_ref	G
chr22:38525561	snp_fw_seq3	CGT/CAT
chr22:38525561	snp_rv_seq3	ACG/ATG
chr22:38525561	func	silent,silent,silent
chr22:38525561	transcript	NM_001004426,NM_001199562,NM_003560
chr22:38525561	genomic	.,.,.
chr22:38525561	codon	.,.,.
chr22:38525561	protein	.,.,.
chr22:38525561	worst	silent
chr22:38525561	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38525561	nvar	1
chr22:38525561	var	chr22:38525561:G/A
chr22:38528958	allele_ref	C
chr22:38528958	allele_alt	T
chr22:38528958	seqdb_ref	C
chr22:38528958	snp_fw_seq3	CCG/CTG
chr22:38528958	snp_rv_seq3	CGG/CAG
chr22:38528958	func	silent,silent,silent
chr22:38528958	transcript	NM_001004426,NM_001199562,NM_003560
chr22:38528958	genomic	.,.,.
chr22:38528958	codon	.,.,.
chr22:38528958	protein	.,.,.
chr22:38528958	worst	silent
chr22:38528958	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38528958	nvar	1
chr22:38528958	var	chr22:38528958:C/T
chr22:38530948	allele_ref	C
chr22:38530948	allele_alt	T
chr22:38530948	seqdb_ref	C
chr22:38530948	snp_fw_seq3	GCG/GTG
chr22:38530948	snp_rv_seq3	CGC/CAC
chr22:38530948	func	intronic,intronic,intronic
chr22:38530948	transcript	NM_001004426,NM_001199562,NM_003560
chr22:38530948	genomic	.,.,.
chr22:38530948	codon	.,.,.
chr22:38530948	protein	.,.,.
chr22:38530948	worst	intronic
chr22:38530948	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38530948	nvar	1
chr22:38530948	var	chr22:38530948:C/T
chr22:38530956	allele_ref	G
chr22:38530956	allele_alt	A
chr22:38530956	seqdb_ref	G
chr22:38530956	snp_fw_seq3	CGG/CAG
chr22:38530956	snp_rv_seq3	CCG/CTG
chr22:38530956	func	intronic,intronic,intronic
chr22:38530956	transcript	NM_001004426,NM_001199562,NM_003560
chr22:38530956	genomic	.,.,.
chr22:38530956	codon	.,.,.
chr22:38530956	protein	.,.,.
chr22:38530956	worst	intronic
chr22:38530956	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38530956	nvar	1
chr22:38530956	var	chr22:38530956:G/A
chr22:38535946	allele_ref	G
chr22:38535946	allele_alt	A
chr22:38535946	seqdb_ref	G
chr22:38535946	snp_fw_seq3	TGG/TAG
chr22:38535946	snp_rv_seq3	CCA/CTA
chr22:38535946	func	intronic,intronic,intronic
chr22:38535946	transcript	NM_001004426,NM_001199562,NM_003560
chr22:38535946	genomic	.,.,.
chr22:38535946	codon	.,.,.
chr22:38535946	protein	.,.,.
chr22:38535946	worst	intronic
chr22:38535946	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38535946	nvar	1
chr22:38535946	var	chr22:38535946:G/A
chr22:38535954	allele_ref	G
chr22:38535954	allele_alt	A
chr22:38535954	seqdb_ref	G
chr22:38535954	snp_fw_seq3	AGC/AAC
chr22:38535954	snp_rv_seq3	GCT/GTT
chr22:38535954	func	intronic,intronic,intronic
chr22:38535954	transcript	NM_001004426,NM_001199562,NM_003560
chr22:38535954	genomic	.,.,.
chr22:38535954	codon	.,.,.
chr22:38535954	protein	.,.,.
chr22:38535954	worst	intronic
chr22:38535954	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38535954	nvar	1
chr22:38535954	var	chr22:38535954:G/A
chr22:38539084	allele_ref	C
chr22:38539084	allele_alt	A
chr22:38539084	seqdb_ref	C
chr22:38539084	snp_fw_seq3	CCA/CAA
chr22:38539084	snp_rv_seq3	TGG/TTG
chr22:38539084	func	intronic,intronic,intronic
chr22:38539084	transcript	NM_001004426,NM_001199562,NM_003560
chr22:38539084	genomic	.,.,.
chr22:38539084	codon	.,.,.
chr22:38539084	protein	.,.,.
chr22:38539084	worst	intronic
chr22:38539084	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38539084	nvar	1
chr22:38539084	var	chr22:38539084:C/A
chr22:38565209	allele_ref	G
chr22:38565209	allele_alt	A
chr22:38565209	seqdb_ref	G
chr22:38565209	snp_fw_seq3	CGC/CAC
chr22:38565209	snp_rv_seq3	GCG/GTG
chr22:38565209	func	intronic,intronic,intronic
chr22:38565209	transcript	NM_001004426,NM_001199562,NM_003560
chr22:38565209	genomic	.,.,.
chr22:38565209	codon	.,.,.
chr22:38565209	protein	.,.,.
chr22:38565209	worst	intronic
chr22:38565209	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38565209	nvar	1
chr22:38565209	var	chr22:38565209:G/A
chr22:38565347	allele_ref	C
chr22:38565347	allele_alt	T
chr22:38565347	seqdb_ref	C
chr22:38565347	snp_fw_seq3	CCA/CTA
chr22:38565347	snp_rv_seq3	TGG/TAG
chr22:38565347	func	silent,silent,silent
chr22:38565347	transcript	NM_001004426,NM_001199562,NM_003560
chr22:38565347	genomic	.,.,.
chr22:38565347	codon	.,.,.
chr22:38565347	protein	.,.,.
chr22:38565347	worst	silent
chr22:38565347	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38565347	nvar	1
chr22:38565347	var	chr22:38565347:C/T
chr22:38617723	allele_ref	G
chr22:38617723	allele_alt	A
chr22:38617723	seqdb_ref	G
chr22:38617723	snp_fw_seq3	CGG/CAG
chr22:38617723	snp_rv_seq3	CCG/CTG
chr22:38617723	func	intronic,intronic,intronic
chr22:38617723	transcript	NM_001195071,NM_001195072,NM_012264
chr22:38617723	genomic	.,.,.
chr22:38617723	codon	.,.,.
chr22:38617723	protein	.,.,.
chr22:38617723	worst	intronic
chr22:38617723	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38617723	nvar	1
chr22:38617723	var	chr22:38617723:G/A
chr22:38620907	allele_ref	G
chr22:38620907	allele_alt	T
chr22:38620907	seqdb_ref	G
chr22:38620907	snp_fw_seq3	CGG/CTG
chr22:38620907	snp_rv_seq3	CCG/CAG
chr22:38620907	func	silent,silent,silent
chr22:38620907	transcript	NM_001195071,NM_001195072,NM_012264
chr22:38620907	genomic	.,.,.
chr22:38620907	codon	.,.,.
chr22:38620907	protein	.,.,.
chr22:38620907	worst	silent
chr22:38620907	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38620907	nvar	1
chr22:38620907	var	chr22:38620907:G/T
chr22:38621003	allele_ref	G
chr22:38621003	allele_alt	A
chr22:38621003	seqdb_ref	G
chr22:38621003	snp_fw_seq3	CGG/CAG
chr22:38621003	snp_rv_seq3	CCG/CTG
chr22:38621003	func	intronic,intronic,intronic
chr22:38621003	transcript	NM_001195071,NM_001195072,NM_012264
chr22:38621003	genomic	.,.,.
chr22:38621003	codon	.,.,.
chr22:38621003	protein	.,.,.
chr22:38621003	worst	intronic
chr22:38621003	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38621003	nvar	1
chr22:38621003	var	chr22:38621003:G/A
chr22:38621456	allele_ref	G
chr22:38621456	allele_alt	A
chr22:38621456	seqdb_ref	G
chr22:38621456	snp_fw_seq3	CGG/CAG
chr22:38621456	snp_rv_seq3	CCG/CTG
chr22:38621456	func	silent,silent,silent
chr22:38621456	transcript	NM_001195071,NM_001195072,NM_012264
chr22:38621456	genomic	.,.,.
chr22:38621456	codon	.,.,.
chr22:38621456	protein	.,.,.
chr22:38621456	worst	silent
chr22:38621456	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38621456	nvar	1
chr22:38621456	var	chr22:38621456:G/A
chr22:38642122	allele_ref	T
chr22:38642122	allele_alt	G
chr22:38642122	seqdb_ref	T
chr22:38642122	snp_fw_seq3	GTG/GGG
chr22:38642122	snp_rv_seq3	CAC/CCC
chr22:38642122	func	intronic,intronic,intronic
chr22:38642122	transcript	NM_001195071,NM_001195072,NM_012264
chr22:38642122	genomic	.,.,.
chr22:38642122	codon	.,.,.
chr22:38642122	protein	.,.,.
chr22:38642122	worst	intronic
chr22:38642122	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38642122	nvar	1
chr22:38642122	var	chr22:38642122:T/G
chr22:38643800	allele_ref	C
chr22:38643800	allele_alt	T
chr22:38643800	seqdb_ref	C
chr22:38643800	snp_fw_seq3	CCG/CTG
chr22:38643800	snp_rv_seq3	CGG/CAG
chr22:38643800	func	silent,5-UTR,silent
chr22:38643800	transcript	NM_001195071,NM_001195072,NM_012264
chr22:38643800	genomic	.,.,.
chr22:38643800	codon	.,.,.
chr22:38643800	protein	.,.,.
chr22:38643800	worst	silent
chr22:38643800	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:38643800	nvar	1
chr22:38643800	var	chr22:38643800:C/T
chr22:38696901	allele_ref	G
chr22:38696901	allele_alt	A
chr22:38696901	seqdb_ref	G
chr22:38696901	snp_fw_seq3	CGG/CAG
chr22:38696901	snp_rv_seq3	CCG/CTG
chr22:38696901	func	silent,silent
chr22:38696901	transcript	NM_001894,NM_152221
chr22:38696901	genomic	.,.
chr22:38696901	codon	.,.
chr22:38696901	protein	.,.
chr22:38696901	worst	silent
chr22:38696901	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38696901	nvar	1
chr22:38696901	var	chr22:38696901:G/A
chr22:38698856	allele_ref	G
chr22:38698856	allele_alt	A
chr22:38698856	seqdb_ref	G
chr22:38698856	snp_fw_seq3	CGG/CAG
chr22:38698856	snp_rv_seq3	CCG/CTG
chr22:38698856	func	intronic,intronic
chr22:38698856	transcript	NM_001894,NM_152221
chr22:38698856	genomic	.,.
chr22:38698856	codon	.,.
chr22:38698856	protein	.,.
chr22:38698856	worst	intronic
chr22:38698856	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38698856	nvar	1
chr22:38698856	var	chr22:38698856:G/A
chr22:38699102	allele_ref	G
chr22:38699102	allele_alt	A
chr22:38699102	seqdb_ref	G
chr22:38699102	snp_fw_seq3	CGC/CAC
chr22:38699102	snp_rv_seq3	GCG/GTG
chr22:38699102	func	intronic,intronic
chr22:38699102	transcript	NM_001894,NM_152221
chr22:38699102	genomic	.,.
chr22:38699102	codon	.,.
chr22:38699102	protein	.,.
chr22:38699102	worst	intronic
chr22:38699102	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38699102	nvar	1
chr22:38699102	var	chr22:38699102:G/A
chr22:38699120	allele_ref	G
chr22:38699120	allele_alt	A
chr22:38699120	seqdb_ref	G
chr22:38699120	snp_fw_seq3	CGC/CAC
chr22:38699120	snp_rv_seq3	GCG/GTG
chr22:38699120	func	intronic,intronic
chr22:38699120	transcript	NM_001894,NM_152221
chr22:38699120	genomic	.,.
chr22:38699120	codon	.,.
chr22:38699120	protein	.,.
chr22:38699120	worst	intronic
chr22:38699120	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38699120	nvar	1
chr22:38699120	var	chr22:38699120:G/A
chr22:38822905	allele_ref	C
chr22:38822905	allele_alt	T
chr22:38822905	seqdb_ref	C
chr22:38822905	snp_fw_seq3	CCG/CTG
chr22:38822905	snp_rv_seq3	CGG/CAG
chr22:38822905	func	silent,silent
chr22:38822905	transcript	NM_004981,NM_152868
chr22:38822905	genomic	.,.
chr22:38822905	codon	.,.
chr22:38822905	protein	.,.
chr22:38822905	worst	silent
chr22:38822905	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38822905	nvar	1
chr22:38822905	var	chr22:38822905:C/T
chr22:38823136	allele_ref	T
chr22:38823136	allele_alt	C
chr22:38823136	seqdb_ref	T
chr22:38823136	snp_fw_seq3	GTG/GCG
chr22:38823136	snp_rv_seq3	CAC/CGC
chr22:38823136	func	silent,silent
chr22:38823136	transcript	NM_004981,NM_152868
chr22:38823136	genomic	.,.
chr22:38823136	codon	.,.
chr22:38823136	protein	.,.
chr22:38823136	worst	silent
chr22:38823136	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38823136	nvar	1
chr22:38823136	var	chr22:38823136:T/C
chr22:38823235	allele_ref	G
chr22:38823235	allele_alt	A
chr22:38823235	seqdb_ref	G
chr22:38823235	snp_fw_seq3	GGG/GAG
chr22:38823235	snp_rv_seq3	CCC/CTC
chr22:38823235	func	silent,silent
chr22:38823235	transcript	NM_004981,NM_152868
chr22:38823235	genomic	.,.
chr22:38823235	codon	.,.
chr22:38823235	protein	.,.
chr22:38823235	worst	silent
chr22:38823235	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38823235	nvar	1
chr22:38823235	var	chr22:38823235:G/A
chr22:38823895	allele_ref	G
chr22:38823895	allele_alt	A
chr22:38823895	seqdb_ref	G
chr22:38823895	snp_fw_seq3	AGG/AAG
chr22:38823895	snp_rv_seq3	CCT/CTT
chr22:38823895	func	silent,silent
chr22:38823895	transcript	NM_004981,NM_152868
chr22:38823895	genomic	.,.
chr22:38823895	codon	.,.
chr22:38823895	protein	.,.
chr22:38823895	worst	silent
chr22:38823895	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38823895	nvar	1
chr22:38823895	var	chr22:38823895:G/A
chr22:38875549	allele_ref	C
chr22:38875549	allele_alt	T
chr22:38875549	seqdb_ref	C
chr22:38875549	snp_fw_seq3	CCG/CTG
chr22:38875549	snp_rv_seq3	CGG/CAG
chr22:38875549	func	intronic,intronic
chr22:38875549	transcript	NM_006855,NM_016657
chr22:38875549	genomic	.,.
chr22:38875549	codon	.,.
chr22:38875549	protein	.,.
chr22:38875549	worst	intronic
chr22:38875549	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38875549	nvar	1
chr22:38875549	var	chr22:38875549:C/T
chr22:38875664	allele_ref	G
chr22:38875664	allele_alt	A
chr22:38875664	seqdb_ref	G
chr22:38875664	snp_fw_seq3	TGA/TAA
chr22:38875664	snp_rv_seq3	TCA/TTA
chr22:38875664	func	missense,missense
chr22:38875664	transcript	NM_006855,NM_016657
chr22:38875664	genomic	g.259G>A,g.259G>A
chr22:38875664	codon	c.259GAC>AAC,c.259GAC>AAC
chr22:38875664	protein	p.87D>N,p.87D>N
chr22:38875664	worst	missense
chr22:38875664	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38875664	nvar	1
chr22:38875664	var	chr22:38875664:G/A
chr22:38877461	allele_ref	T
chr22:38877461	allele_alt	G
chr22:38877461	seqdb_ref	T
chr22:38877461	snp_fw_seq3	GTG/GGG
chr22:38877461	snp_rv_seq3	CAC/CCC
chr22:38877461	func	missense,missense
chr22:38877461	transcript	NM_006855,NM_016657
chr22:38877461	genomic	g.596T>G,g.596T>G
chr22:38877461	codon	c.596GTG>GGG,c.596GTG>GGG
chr22:38877461	protein	p.199V>G,p.199V>G
chr22:38877461	worst	missense
chr22:38877461	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38877461	nvar	1
chr22:38877461	var	chr22:38877461:T/G
chr22:38877527	allele_ref	A
chr22:38877527	allele_alt	C
chr22:38877527	seqdb_ref	A
chr22:38877527	snp_fw_seq3	TAA/TCA
chr22:38877527	snp_rv_seq3	TTA/TGA
chr22:38877527	func	intronic,read-through
chr22:38877527	annot_details	PEPSIZE=221->221
chr22:38877527	transcript	NM_006855,NM_016657
chr22:38877527	genomic	.,g.662A>C
chr22:38877527	codon	.,c.662TAA>TCA
chr22:38877527	protein	.,p.221*>S
chr22:38877527	worst	readthrough
chr22:38877527	class	readthrough,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=1,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38877527	nvar	1
chr22:38877527	var	chr22:38877527:A/C
chr22:38881979	allele_ref	G
chr22:38881979	allele_alt	A
chr22:38881979	seqdb_ref	G
chr22:38881979	snp_fw_seq3	gGT/gAT
chr22:38881979	snp_rv_seq3	ACc/ATc
chr22:38881979	func	silent,silent
chr22:38881979	transcript	NM_001098504,NM_006386
chr22:38881979	genomic	.,.
chr22:38881979	codon	.,.
chr22:38881979	protein	.,.
chr22:38881979	worst	silent
chr22:38881979	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38881979	nvar	1
chr22:38881979	var	chr22:38881979:G/A
chr22:38882027	allele_ref	C
chr22:38882027	allele_alt	T
chr22:38882027	seqdb_ref	C
chr22:38882027	snp_fw_seq3	CCG/CTG
chr22:38882027	snp_rv_seq3	CGG/CAG
chr22:38882027	func	silent,silent
chr22:38882027	transcript	NM_001098504,NM_006386
chr22:38882027	genomic	.,.
chr22:38882027	codon	.,.
chr22:38882027	protein	.,.
chr22:38882027	worst	silent
chr22:38882027	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38882027	nvar	1
chr22:38882027	var	chr22:38882027:C/T
chr22:38915986	allele_ref	C
chr22:38915986	allele_alt	T
chr22:38915986	seqdb_ref	C
chr22:38915986	snp_fw_seq3	CCT/CTT
chr22:38915986	snp_rv_seq3	AGG/AAG
chr22:38915986	func	3-UTR
chr22:38915986	transcript	NM_007068
chr22:38915986	genomic	.
chr22:38915986	codon	.
chr22:38915986	protein	.
chr22:38915986	worst	UTR3
chr22:38915986	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:38915986	nvar	1
chr22:38915986	var	chr22:38915986:C/T
chr22:38917581	allele_ref	C
chr22:38917581	allele_alt	A
chr22:38917581	seqdb_ref	c
chr22:38917581	snp_fw_seq3	aca/aAa
chr22:38917581	snp_rv_seq3	tgt/tTt
chr22:38917581	func	intronic
chr22:38917581	transcript	NM_007068
chr22:38917581	genomic	.
chr22:38917581	codon	.
chr22:38917581	protein	.
chr22:38917581	worst	intronic
chr22:38917581	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38917581	nvar	1
chr22:38917581	var	chr22:38917581:C/A
chr22:38934515	allele_ref	C
chr22:38934515	allele_alt	G
chr22:38934515	seqdb_ref	C
chr22:38934515	snp_fw_seq3	TCT/TGT
chr22:38934515	snp_rv_seq3	AGA/ACA
chr22:38934515	func	intronic
chr22:38934515	transcript	NM_007068
chr22:38934515	genomic	.
chr22:38934515	codon	.
chr22:38934515	protein	.
chr22:38934515	worst	intronic
chr22:38934515	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38934515	nvar	1
chr22:38934515	var	chr22:38934515:C/G
chr22:38945896	allele_ref	C
chr22:38945896	allele_alt	G
chr22:38945896	seqdb_ref	C
chr22:38945896	snp_fw_seq3	ACT/AGT
chr22:38945896	snp_rv_seq3	AGT/ACT
chr22:38945896	func	intronic
chr22:38945896	transcript	NM_007068
chr22:38945896	genomic	.
chr22:38945896	codon	.
chr22:38945896	protein	.
chr22:38945896	worst	intronic
chr22:38945896	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38945896	nvar	1
chr22:38945896	var	chr22:38945896:C/G
chr22:38945975	allele_ref	C
chr22:38945975	allele_alt	T
chr22:38945975	seqdb_ref	C
chr22:38945975	snp_fw_seq3	GCC/GTC
chr22:38945975	snp_rv_seq3	GGC/GAC
chr22:38945975	func	missense
chr22:38945975	transcript	NM_007068
chr22:38945975	genomic	g.449C>T
chr22:38945975	codon	c.449GGC>GAC
chr22:38945975	protein	p.150G>D
chr22:38945975	worst	missense
chr22:38945975	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38945975	nvar	1
chr22:38945975	var	chr22:38945975:C/T
chr22:38958260	allele_ref	G
chr22:38958260	allele_alt	A
chr22:38958260	seqdb_ref	G
chr22:38958260	snp_fw_seq3	TGC/TAC
chr22:38958260	snp_rv_seq3	GCA/GTA
chr22:38958260	func	intronic
chr22:38958260	transcript	NM_007068
chr22:38958260	genomic	.
chr22:38958260	codon	.
chr22:38958260	protein	.
chr22:38958260	worst	intronic
chr22:38958260	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38958260	nvar	1
chr22:38958260	var	chr22:38958260:G/A
chr22:38962628	allele_ref	T
chr22:38962628	allele_alt	C
chr22:38962628	seqdb_ref	T
chr22:38962628	snp_fw_seq3	CTA/CCA
chr22:38962628	snp_rv_seq3	TAG/TGG
chr22:38962628	func	silent
chr22:38962628	transcript	NM_007068
chr22:38962628	genomic	.
chr22:38962628	codon	.
chr22:38962628	protein	.
chr22:38962628	worst	silent
chr22:38962628	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:38962628	nvar	1
chr22:38962628	var	chr22:38962628:T/C
chr22:39066851	allele_ref	G
chr22:39066851	allele_alt	A
chr22:39066851	seqdb_ref	G
chr22:39066851	snp_fw_seq3	CGG/CAG
chr22:39066851	snp_rv_seq3	CCG/CTG
chr22:39066851	func	intronic,intronic
chr22:39066851	transcript	NM_001002880,NM_015373
chr22:39066851	genomic	.,.
chr22:39066851	codon	.,.
chr22:39066851	protein	.,.
chr22:39066851	worst	intronic
chr22:39066851	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39066851	nvar	1
chr22:39066851	var	chr22:39066851:G/A
chr22:39069181	allele_ref	T
chr22:39069181	allele_alt	C
chr22:39069181	seqdb_ref	T
chr22:39069181	snp_fw_seq3	CTG/CCG
chr22:39069181	snp_rv_seq3	CAG/CGG
chr22:39069181	func	silent,silent
chr22:39069181	transcript	NM_001002880,NM_015373
chr22:39069181	genomic	.,.
chr22:39069181	codon	.,.
chr22:39069181	protein	.,.
chr22:39069181	worst	silent
chr22:39069181	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39069181	nvar	1
chr22:39069181	var	chr22:39069181:T/C
chr22:39078022	allele_ref	C
chr22:39078022	allele_alt	T
chr22:39078022	seqdb_ref	C
chr22:39078022	snp_fw_seq3	CCC/CTC
chr22:39078022	snp_rv_seq3	GGG/GAG
chr22:39078022	func	silent
chr22:39078022	transcript	NM_020243
chr22:39078022	genomic	.
chr22:39078022	codon	.
chr22:39078022	protein	.
chr22:39078022	worst	silent
chr22:39078022	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39078022	nvar	1
chr22:39078022	var	chr22:39078022:C/T
chr22:39085170	allele_ref	C
chr22:39085170	allele_alt	G
chr22:39085170	seqdb_ref	C
chr22:39085170	snp_fw_seq3	GCC/GGC
chr22:39085170	snp_rv_seq3	GGC/GCC
chr22:39085170	func	intronic
chr22:39085170	transcript	NM_014876
chr22:39085170	genomic	.
chr22:39085170	codon	.
chr22:39085170	protein	.
chr22:39085170	worst	intronic
chr22:39085170	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39085170	nvar	1
chr22:39085170	var	chr22:39085170:C/G
chr22:39095769	allele_ref	A
chr22:39095769	allele_alt	T
chr22:39095769	seqdb_ref	A
chr22:39095769	snp_fw_seq3	AAA/ATA
chr22:39095769	snp_rv_seq3	TTT/TAT
chr22:39095769	func	intronic
chr22:39095769	transcript	NM_014876
chr22:39095769	genomic	.
chr22:39095769	codon	.
chr22:39095769	protein	.
chr22:39095769	worst	intronic
chr22:39095769	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39095769	nvar	1
chr22:39095769	var	chr22:39095769:A/T
chr22:39095849	allele_ref	G
chr22:39095849	allele_alt	C
chr22:39095849	seqdb_ref	G
chr22:39095849	snp_fw_seq3	TGC/TCC
chr22:39095849	snp_rv_seq3	GCA/GGA
chr22:39095849	func	missense
chr22:39095849	transcript	NM_014876
chr22:39095849	genomic	g.144G>C
chr22:39095849	codon	c.144AGC>AGG
chr22:39095849	protein	p.48S>R
chr22:39095849	worst	missense
chr22:39095849	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39095849	nvar	1
chr22:39095849	var	chr22:39095849:G/C
chr22:39095987	allele_ref	A
chr22:39095987	allele_alt	G
chr22:39095987	seqdb_ref	A
chr22:39095987	snp_fw_seq3	AAC/AGC
chr22:39095987	snp_rv_seq3	GTT/GCT
chr22:39095987	func	silent
chr22:39095987	transcript	NM_014876
chr22:39095987	genomic	.
chr22:39095987	codon	.
chr22:39095987	protein	.
chr22:39095987	worst	silent
chr22:39095987	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39095987	nvar	1
chr22:39095987	var	chr22:39095987:A/G
chr22:39112996	allele_ref	C
chr22:39112996	allele_alt	T
chr22:39112996	seqdb_ref	C
chr22:39112996	snp_fw_seq3	GCA/GTA
chr22:39112996	snp_rv_seq3	TGC/TAC
chr22:39112996	func	silent
chr22:39112996	transcript	NM_004286
chr22:39112996	genomic	.
chr22:39112996	codon	.
chr22:39112996	protein	.
chr22:39112996	worst	silent
chr22:39112996	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39112996	nvar	1
chr22:39112996	var	chr22:39112996:C/T
chr22:39122038	allele_ref	C
chr22:39122038	allele_alt	T
chr22:39122038	seqdb_ref	C
chr22:39122038	snp_fw_seq3	ACG/ATG
chr22:39122038	snp_rv_seq3	CGT/CAT
chr22:39122038	func	silent
chr22:39122038	transcript	NM_004286
chr22:39122038	genomic	.
chr22:39122038	codon	.
chr22:39122038	protein	.
chr22:39122038	worst	silent
chr22:39122038	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39122038	nvar	1
chr22:39122038	var	chr22:39122038:C/T
chr22:39124191	allele_ref	G
chr22:39124191	allele_alt	A
chr22:39124191	seqdb_ref	G
chr22:39124191	snp_fw_seq3	TGC/TAC
chr22:39124191	snp_rv_seq3	GCA/GTA
chr22:39124191	func	intronic
chr22:39124191	transcript	NM_004286
chr22:39124191	genomic	.
chr22:39124191	codon	.
chr22:39124191	protein	.
chr22:39124191	worst	intronic
chr22:39124191	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39124191	nvar	1
chr22:39124191	var	chr22:39124191:G/A
chr22:39125529	allele_ref	G
chr22:39125529	allele_alt	A
chr22:39125529	seqdb_ref	G
chr22:39125529	snp_fw_seq3	CGA/CAA
chr22:39125529	snp_rv_seq3	TCG/TTG
chr22:39125529	func	silent
chr22:39125529	transcript	NM_004286
chr22:39125529	genomic	.
chr22:39125529	codon	.
chr22:39125529	protein	.
chr22:39125529	worst	silent
chr22:39125529	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39125529	nvar	1
chr22:39125529	var	chr22:39125529:G/A
chr22:39126748	allele_ref	C
chr22:39126748	allele_alt	G
chr22:39126748	seqdb_ref	C
chr22:39126748	snp_fw_seq3	TCA/TGA
chr22:39126748	snp_rv_seq3	TGA/TCA
chr22:39126748	func	3-UTR
chr22:39126748	transcript	NM_004286
chr22:39126748	genomic	.
chr22:39126748	codon	.
chr22:39126748	protein	.
chr22:39126748	worst	UTR3
chr22:39126748	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:39126748	nvar	1
chr22:39126748	var	chr22:39126748:C/G
chr22:39134207	allele_ref	C
chr22:39134207	allele_alt	T
chr22:39134207	seqdb_ref	C
chr22:39134207	snp_fw_seq3	CCG/CTG
chr22:39134207	snp_rv_seq3	CGG/CAG
chr22:39134207	func	missense,missense,missense
chr22:39134207	transcript	NM_001199579,NM_001199580,NM_015374
chr22:39134207	genomic	g.2074C>T,g.2011C>T,g.2011C>T
chr22:39134207	codon	c.2074GGC>AGC,c.2011GGC>AGC,c.2011GGC>AGC
chr22:39134207	protein	p.692G>S,p.671G>S,p.671G>S
chr22:39134207	worst	missense
chr22:39134207	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39134207	nvar	1
chr22:39134207	var	chr22:39134207:C/T
chr22:39134217	allele_ref	G
chr22:39134217	allele_alt	A
chr22:39134217	seqdb_ref	G
chr22:39134217	snp_fw_seq3	CGT/CAT
chr22:39134217	snp_rv_seq3	ACG/ATG
chr22:39134217	func	silent,silent,silent
chr22:39134217	transcript	NM_001199579,NM_001199580,NM_015374
chr22:39134217	genomic	.,.,.
chr22:39134217	codon	.,.,.
chr22:39134217	protein	.,.,.
chr22:39134217	worst	silent
chr22:39134217	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39134217	nvar	1
chr22:39134217	var	chr22:39134217:G/A
chr22:39134715	allele_ref	T
chr22:39134715	allele_alt	C
chr22:39134715	seqdb_ref	T
chr22:39134715	snp_fw_seq3	CTT/CCT
chr22:39134715	snp_rv_seq3	AAG/AGG
chr22:39134715	func	silent,silent,silent
chr22:39134715	transcript	NM_001199579,NM_001199580,NM_015374
chr22:39134715	genomic	.,.,.
chr22:39134715	codon	.,.,.
chr22:39134715	protein	.,.,.
chr22:39134715	worst	silent
chr22:39134715	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39134715	nvar	1
chr22:39134715	var	chr22:39134715:T/C
chr22:39134956	allele_ref	G
chr22:39134956	allele_alt	A
chr22:39134956	seqdb_ref	G
chr22:39134956	snp_fw_seq3	CGT/CAT
chr22:39134956	snp_rv_seq3	ACG/ATG
chr22:39134956	func	silent,silent,silent
chr22:39134956	transcript	NM_001199579,NM_001199580,NM_015374
chr22:39134956	genomic	.,.,.
chr22:39134956	codon	.,.,.
chr22:39134956	protein	.,.,.
chr22:39134956	worst	silent
chr22:39134956	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39134956	nvar	1
chr22:39134956	var	chr22:39134956:G/A
chr22:39135699	allele_ref	T
chr22:39135699	allele_alt	C
chr22:39135699	seqdb_ref	T
chr22:39135699	snp_fw_seq3	GTG/GCG
chr22:39135699	snp_rv_seq3	CAC/CGC
chr22:39135699	func	intronic,intronic,intronic
chr22:39135699	transcript	NM_001199579,NM_001199580,NM_015374
chr22:39135699	genomic	.,.,.
chr22:39135699	codon	.,.,.
chr22:39135699	protein	.,.,.
chr22:39135699	worst	intronic
chr22:39135699	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39135699	nvar	1
chr22:39135699	var	chr22:39135699:T/C
chr22:39138331	allele_ref	C
chr22:39138331	allele_alt	T
chr22:39138331	seqdb_ref	C
chr22:39138331	snp_fw_seq3	GCG/GTG
chr22:39138331	snp_rv_seq3	CGC/CAC
chr22:39138331	func	missense,missense,missense
chr22:39138331	transcript	NM_001199579,NM_001199580,NM_015374
chr22:39138331	genomic	g.1106C>T,g.1043C>T,g.1043C>T
chr22:39138331	codon	c.1106CGC>CAC,c.1043CGC>CAC,c.1043CGC>CAC
chr22:39138331	protein	p.369R>H,p.348R>H,p.348R>H
chr22:39138331	worst	missense
chr22:39138331	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39138331	nvar	1
chr22:39138331	var	chr22:39138331:C/T
chr22:39141641	allele_ref	A
chr22:39141641	allele_alt	G
chr22:39141641	seqdb_ref	A
chr22:39141641	snp_fw_seq3	CAC/CGC
chr22:39141641	snp_rv_seq3	GTG/GCG
chr22:39141641	func	intronic,intronic,intronic
chr22:39141641	transcript	NM_001199579,NM_001199580,NM_015374
chr22:39141641	genomic	.,.,.
chr22:39141641	codon	.,.,.
chr22:39141641	protein	.,.,.
chr22:39141641	worst	intronic
chr22:39141641	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39141641	nvar	1
chr22:39141641	var	chr22:39141641:A/G
chr22:39146330	allele_ref	G
chr22:39146330	allele_alt	A
chr22:39146330	seqdb_ref	G
chr22:39146330	snp_fw_seq3	CGG/CAG
chr22:39146330	snp_rv_seq3	CCG/CTG
chr22:39146330	func	silent,intronic,splice,intronic,splice
chr22:39146330	annot_details	DIST=5,NMD=0,OFPTV=1,EXIN=6,ISEQ=GACGCC,ESEQ=TCATCG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS6+5C>T,DIST=5,NMD=0,OFPTV=1,EXIN=5,ISEQ=GACGCC,ESEQ=TCATCG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS5+5C>T
chr22:39146330	transcript	NM_001199579,NM_001199580,NM_001199580,NM_015374,NM_015374
chr22:39146330	genomic	.,.,.,.,.
chr22:39146330	codon	.,.,.,.,.
chr22:39146330	protein	.,.,.,.,.
chr22:39146330	worst	splice
chr22:39146330	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39146330	nvar	1
chr22:39146330	var	chr22:39146330:G/A
chr22:39146886	allele_ref	G
chr22:39146886	allele_alt	A
chr22:39146886	seqdb_ref	G
chr22:39146886	snp_fw_seq3	GGA/GAA
chr22:39146886	snp_rv_seq3	TCC/TTC
chr22:39146886	func	intronic,intronic,intronic
chr22:39146886	transcript	NM_001199579,NM_001199580,NM_015374
chr22:39146886	genomic	.,.,.
chr22:39146886	codon	.,.,.
chr22:39146886	protein	.,.,.
chr22:39146886	worst	intronic
chr22:39146886	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39146886	nvar	1
chr22:39146886	var	chr22:39146886:G/A
chr22:39148483	allele_ref	G
chr22:39148483	allele_alt	A
chr22:39148483	seqdb_ref	G
chr22:39148483	snp_fw_seq3	AGG/AAG
chr22:39148483	snp_rv_seq3	CCT/CTT
chr22:39148483	func	intronic,intronic,intronic
chr22:39148483	transcript	NM_001199579,NM_001199580,NM_015374
chr22:39148483	genomic	.,.,.
chr22:39148483	codon	.,.,.
chr22:39148483	protein	.,.,.
chr22:39148483	worst	intronic
chr22:39148483	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39148483	nvar	1
chr22:39148483	var	chr22:39148483:G/A
chr22:39176886	allele_ref	G
chr22:39176886	allele_alt	A
chr22:39176886	seqdb_ref	G
chr22:39176886	snp_fw_seq3	AGG/AAG
chr22:39176886	snp_rv_seq3	CCT/CTT
chr22:39176886	func	intronic
chr22:39176886	transcript	NM_005740
chr22:39176886	genomic	.
chr22:39176886	codon	.
chr22:39176886	protein	.
chr22:39176886	worst	intronic
chr22:39176886	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39176886	nvar	1
chr22:39176886	var	chr22:39176886:G/A
chr22:39178701	allele_ref	A
chr22:39178701	allele_alt	G
chr22:39178701	seqdb_ref	A
chr22:39178701	snp_fw_seq3	AAT/AGT
chr22:39178701	snp_rv_seq3	ATT/ACT
chr22:39178701	func	silent
chr22:39178701	transcript	NM_005740
chr22:39178701	genomic	.
chr22:39178701	codon	.
chr22:39178701	protein	.
chr22:39178701	worst	silent
chr22:39178701	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39178701	nvar	1
chr22:39178701	var	chr22:39178701:A/G
chr22:39218662	allele_ref	A
chr22:39218662	allele_alt	G
chr22:39218662	seqdb_ref	A
chr22:39218662	snp_fw_seq3	CAC/CGC
chr22:39218662	snp_rv_seq3	GTG/GCG
chr22:39218662	func	silent
chr22:39218662	transcript	NM_014293
chr22:39218662	genomic	.
chr22:39218662	codon	.
chr22:39218662	protein	.
chr22:39218662	worst	silent
chr22:39218662	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39218662	nvar	1
chr22:39218662	var	chr22:39218662:A/G
chr22:39218764	allele_ref	G
chr22:39218764	allele_alt	A
chr22:39218764	seqdb_ref	G
chr22:39218764	snp_fw_seq3	CGT/CAT
chr22:39218764	snp_rv_seq3	ACG/ATG
chr22:39218764	func	silent
chr22:39218764	transcript	NM_014293
chr22:39218764	genomic	.
chr22:39218764	codon	.
chr22:39218764	protein	.
chr22:39218764	worst	silent
chr22:39218764	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39218764	nvar	1
chr22:39218764	var	chr22:39218764:G/A
chr22:39219069	allele_ref	A
chr22:39219069	allele_alt	G
chr22:39219069	seqdb_ref	A
chr22:39219069	snp_fw_seq3	AAT/AGT
chr22:39219069	snp_rv_seq3	ATT/ACT
chr22:39219069	func	intronic
chr22:39219069	transcript	NM_014293
chr22:39219069	genomic	.
chr22:39219069	codon	.
chr22:39219069	protein	.
chr22:39219069	worst	intronic
chr22:39219069	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39219069	nvar	1
chr22:39219069	var	chr22:39219069:A/G
chr22:39222589	allele_ref	G
chr22:39222589	allele_alt	A
chr22:39222589	seqdb_ref	G
chr22:39222589	snp_fw_seq3	AGA/AAA
chr22:39222589	snp_rv_seq3	TCT/TTT
chr22:39222589	func	silent
chr22:39222589	transcript	NM_014293
chr22:39222589	genomic	.
chr22:39222589	codon	.
chr22:39222589	protein	.
chr22:39222589	worst	silent
chr22:39222589	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39222589	nvar	1
chr22:39222589	var	chr22:39222589:G/A
chr22:39222652	allele_ref	G
chr22:39222652	allele_alt	A
chr22:39222652	seqdb_ref	G
chr22:39222652	snp_fw_seq3	CGT/CAT
chr22:39222652	snp_rv_seq3	ACG/ATG
chr22:39222652	func	silent
chr22:39222652	transcript	NM_014293
chr22:39222652	genomic	.
chr22:39222652	codon	.
chr22:39222652	protein	.
chr22:39222652	worst	silent
chr22:39222652	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39222652	nvar	1
chr22:39222652	var	chr22:39222652:G/A
chr22:39224248	allele_ref	T
chr22:39224248	allele_alt	C
chr22:39224248	seqdb_ref	T
chr22:39224248	snp_fw_seq3	ATC/ACC
chr22:39224248	snp_rv_seq3	GAT/GGT
chr22:39224248	func	intronic
chr22:39224248	transcript	NM_014293
chr22:39224248	genomic	.
chr22:39224248	codon	.
chr22:39224248	protein	.
chr22:39224248	worst	intronic
chr22:39224248	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39224248	nvar	1
chr22:39224248	var	chr22:39224248:T/C
chr22:39224383	allele_ref	A
chr22:39224383	allele_alt	G
chr22:39224383	seqdb_ref	A
chr22:39224383	snp_fw_seq3	CAC/CGC
chr22:39224383	snp_rv_seq3	GTG/GCG
chr22:39224383	func	silent
chr22:39224383	transcript	NM_014293
chr22:39224383	genomic	.
chr22:39224383	codon	.
chr22:39224383	protein	.
chr22:39224383	worst	silent
chr22:39224383	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39224383	nvar	1
chr22:39224383	var	chr22:39224383:A/G
chr22:39262411	allele_ref	C
chr22:39262411	allele_alt	T
chr22:39262411	seqdb_ref	C
chr22:39262411	snp_fw_seq3	CCG/CTG
chr22:39262411	snp_rv_seq3	CGG/CAG
chr22:39262411	func	missense
chr22:39262411	transcript	NM_014292
chr22:39262411	genomic	g.1042C>T
chr22:39262411	codon	c.1042GGT>AGT
chr22:39262411	protein	p.348G>S
chr22:39262411	worst	missense
chr22:39262411	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39262411	nvar	1
chr22:39262411	var	chr22:39262411:C/T
chr22:39262793	allele_ref	C
chr22:39262793	allele_alt	T
chr22:39262793	seqdb_ref	C
chr22:39262793	snp_fw_seq3	GCA/GTA
chr22:39262793	snp_rv_seq3	TGC/TAC
chr22:39262793	func	silent
chr22:39262793	transcript	NM_014292
chr22:39262793	genomic	.
chr22:39262793	codon	.
chr22:39262793	protein	.
chr22:39262793	worst	silent
chr22:39262793	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39262793	nvar	1
chr22:39262793	var	chr22:39262793:C/T
chr22:39267453	allele_ref	A
chr22:39267453	allele_alt	T
chr22:39267453	seqdb_ref	A
chr22:39267453	snp_fw_seq3	GAG/GTG
chr22:39267453	snp_rv_seq3	CTC/CAC
chr22:39267453	func	intronic
chr22:39267453	transcript	NM_014292
chr22:39267453	genomic	.
chr22:39267453	codon	.
chr22:39267453	protein	.
chr22:39267453	worst	intronic
chr22:39267453	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39267453	nvar	1
chr22:39267453	var	chr22:39267453:A/T
chr22:39267670	allele_ref	C
chr22:39267670	allele_alt	A
chr22:39267670	seqdb_ref	C
chr22:39267670	snp_fw_seq3	GCC/GAC
chr22:39267670	snp_rv_seq3	GGC/GTC
chr22:39267670	func	intronic
chr22:39267670	transcript	NM_014292
chr22:39267670	genomic	.
chr22:39267670	codon	.
chr22:39267670	protein	.
chr22:39267670	worst	intronic
chr22:39267670	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39267670	nvar	1
chr22:39267670	var	chr22:39267670:C/A
chr22:39353680	allele_ref	C
chr22:39353680	allele_alt	G
chr22:39353680	seqdb_ref	C
chr22:39353680	snp_fw_seq3	CCG/CGG
chr22:39353680	snp_rv_seq3	CGG/CCG
chr22:39353680	func	5-UTR,5-UTR
chr22:39353680	transcript	NM_001193289,NM_145699
chr22:39353680	genomic	.,.
chr22:39353680	codon	.,.
chr22:39353680	protein	.,.
chr22:39353680	worst	UTR5
chr22:39353680	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=2,UTR3=0,npcRNA=0
chr22:39353680	nvar	1
chr22:39353680	var	chr22:39353680:C/G
chr22:39355572	allele_ref	A
chr22:39355572	allele_alt	G
chr22:39355572	seqdb_ref	A
chr22:39355572	snp_fw_seq3	CAC/CGC
chr22:39355572	snp_rv_seq3	GTG/GCG
chr22:39355572	func	missense,missense
chr22:39355572	transcript	NM_001193289,NM_145699
chr22:39355572	genomic	g.55A>G,g.55A>G
chr22:39355572	codon	c.55ACT>GCT,c.55ACT>GCT
chr22:39355572	protein	p.19T>A,p.19T>A
chr22:39355572	worst	missense
chr22:39355572	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39355572	nvar	1
chr22:39355572	var	chr22:39355572:A/G
chr22:39355717	allele_ref	G
chr22:39355717	allele_alt	A
chr22:39355717	seqdb_ref	G
chr22:39355717	snp_fw_seq3	CGG/CAG
chr22:39355717	snp_rv_seq3	CCG/CTG
chr22:39355717	func	intronic,intronic
chr22:39355717	transcript	NM_001193289,NM_145699
chr22:39355717	genomic	.,.
chr22:39355717	codon	.,.
chr22:39355717	protein	.,.
chr22:39355717	worst	intronic
chr22:39355717	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39355717	nvar	1
chr22:39355717	var	chr22:39355717:G/A
chr22:39357581	allele_ref	C
chr22:39357581	allele_alt	T
chr22:39357581	seqdb_ref	C
chr22:39357581	snp_fw_seq3	ACT/ATT
chr22:39357581	snp_rv_seq3	AGT/AAT
chr22:39357581	func	silent,silent
chr22:39357581	transcript	NM_001193289,NM_145699
chr22:39357581	genomic	.,.
chr22:39357581	codon	.,.
chr22:39357581	protein	.,.
chr22:39357581	worst	silent
chr22:39357581	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39357581	nvar	1
chr22:39357581	var	chr22:39357581:C/T
chr22:39380131	allele_ref	C
chr22:39380131	allele_alt	T
chr22:39380131	seqdb_ref	C
chr22:39380131	snp_fw_seq3	ACG/ATG
chr22:39380131	snp_rv_seq3	CGT/CAT
chr22:39380131	func	intronic,silent
chr22:39380131	transcript	NM_001193289,NM_004900
chr22:39380131	genomic	.,.
chr22:39380131	codon	.,.
chr22:39380131	protein	.,.
chr22:39380131	worst	silent
chr22:39380131	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39380131	nvar	1
chr22:39380131	var	chr22:39380131:C/T
chr22:39381826	allele_ref	A
chr22:39381826	allele_alt	G
chr22:39381826	seqdb_ref	A
chr22:39381826	snp_fw_seq3	CAA/CGA
chr22:39381826	snp_rv_seq3	TTG/TCG
chr22:39381826	func	intronic,missense
chr22:39381826	transcript	NM_001193289,NM_004900
chr22:39381826	genomic	.,g.184A>G
chr22:39381826	codon	.,c.184AAG>GAG
chr22:39381826	protein	.,p.62K>E
chr22:39381826	worst	missense
chr22:39381826	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39381826	nvar	1
chr22:39381826	var	chr22:39381826:A/G
chr22:39381840	allele_ref	C
chr22:39381840	allele_alt	T
chr22:39381840	seqdb_ref	C
chr22:39381840	snp_fw_seq3	ACG/ATG
chr22:39381840	snp_rv_seq3	CGT/CAT
chr22:39381840	func	intronic,silent
chr22:39381840	transcript	NM_001193289,NM_004900
chr22:39381840	genomic	.,.
chr22:39381840	codon	.,.
chr22:39381840	protein	.,.
chr22:39381840	worst	silent
chr22:39381840	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39381840	nvar	1
chr22:39381840	var	chr22:39381840:C/T
chr22:39381935	allele_ref	C
chr22:39381935	allele_alt	T
chr22:39381935	seqdb_ref	C
chr22:39381935	snp_fw_seq3	CCG/CTG
chr22:39381935	snp_rv_seq3	CGG/CAG
chr22:39381935	func	intronic,missense
chr22:39381935	transcript	NM_001193289,NM_004900
chr22:39381935	genomic	.,g.293C>T
chr22:39381935	codon	.,c.293CCG>CTG
chr22:39381935	protein	.,p.98P>L
chr22:39381935	worst	missense
chr22:39381935	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39381935	nvar	1
chr22:39381935	var	chr22:39381935:C/T
chr22:39381957	allele_ref	C
chr22:39381957	allele_alt	T
chr22:39381957	seqdb_ref	C
chr22:39381957	snp_fw_seq3	CCG/CTG
chr22:39381957	snp_rv_seq3	CGG/CAG
chr22:39381957	func	intronic,silent
chr22:39381957	transcript	NM_001193289,NM_004900
chr22:39381957	genomic	.,.
chr22:39381957	codon	.,.
chr22:39381957	protein	.,.
chr22:39381957	worst	silent
chr22:39381957	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39381957	nvar	1
chr22:39381957	var	chr22:39381957:C/T
chr22:39381999	allele_ref	T
chr22:39381999	allele_alt	C
chr22:39381999	seqdb_ref	T
chr22:39381999	snp_fw_seq3	CTG/CCG
chr22:39381999	snp_rv_seq3	CAG/CGG
chr22:39381999	func	intronic,silent
chr22:39381999	transcript	NM_001193289,NM_004900
chr22:39381999	genomic	.,.
chr22:39381999	codon	.,.
chr22:39381999	protein	.,.
chr22:39381999	worst	silent
chr22:39381999	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39381999	nvar	1
chr22:39381999	var	chr22:39381999:T/C
chr22:39382079	allele_ref	C
chr22:39382079	allele_alt	A
chr22:39382079	seqdb_ref	C
chr22:39382079	snp_fw_seq3	ACG/AAG
chr22:39382079	snp_rv_seq3	CGT/CTT
chr22:39382079	func	intronic,missense
chr22:39382079	transcript	NM_001193289,NM_004900
chr22:39382079	genomic	.,g.437C>A
chr22:39382079	codon	.,c.437ACG>AAG
chr22:39382079	protein	.,p.146T>K
chr22:39382079	worst	missense
chr22:39382079	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39382079	nvar	1
chr22:39382079	var	chr22:39382079:C/A
chr22:39382133	allele_ref	G
chr22:39382133	allele_alt	A
chr22:39382133	seqdb_ref	G
chr22:39382133	snp_fw_seq3	AGG/AAG
chr22:39382133	snp_rv_seq3	CCT/CTT
chr22:39382133	func	intronic,intronic
chr22:39382133	transcript	NM_001193289,NM_004900
chr22:39382133	genomic	.,.
chr22:39382133	codon	.,.
chr22:39382133	protein	.,.
chr22:39382133	worst	intronic
chr22:39382133	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39382133	nvar	1
chr22:39382133	var	chr22:39382133:G/A
chr22:39382255	allele_ref	G
chr22:39382255	allele_alt	A
chr22:39382255	seqdb_ref	G
chr22:39382255	snp_fw_seq3	AGG/AAG
chr22:39382255	snp_rv_seq3	CCT/CTT
chr22:39382255	func	intronic,intronic
chr22:39382255	transcript	NM_001193289,NM_004900
chr22:39382255	genomic	.,.
chr22:39382255	codon	.,.
chr22:39382255	protein	.,.
chr22:39382255	worst	intronic
chr22:39382255	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39382255	nvar	1
chr22:39382255	var	chr22:39382255:G/A
chr22:39382376	allele_ref	A
chr22:39382376	allele_alt	C
chr22:39382376	seqdb_ref	A
chr22:39382376	snp_fw_seq3	AAA/ACA
chr22:39382376	snp_rv_seq3	TTT/TGT
chr22:39382376	func	intronic,missense
chr22:39382376	transcript	NM_001193289,NM_004900
chr22:39382376	genomic	.,g.528A>C
chr22:39382376	codon	.,c.528GAA>GAC
chr22:39382376	protein	.,p.176E>D
chr22:39382376	worst	missense
chr22:39382376	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39382376	nvar	1
chr22:39382376	var	chr22:39382376:A/C
chr22:39382414	allele_ref	T
chr22:39382414	allele_alt	C
chr22:39382414	seqdb_ref	T
chr22:39382414	snp_fw_seq3	CTC/CCC
chr22:39382414	snp_rv_seq3	GAG/GGG
chr22:39382414	func	intronic,splice,missense
chr22:39382414	annot_details	DIST=-3,NMD=0,OFPTV=0,EXIN=4,ISEQ=GTGAGG,ESEQ=TCTCAG,SPLICE_TYPE=donor,ALT=C,HGVS=c.IVS4+-3T>C
chr22:39382414	transcript	NM_001193289,NM_004900,NM_004900
chr22:39382414	genomic	.,.,g.566T>C
chr22:39382414	codon	.,.,c.566CTC>CCC
chr22:39382414	protein	.,.,p.189L>P
chr22:39382414	worst	missense
chr22:39382414	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39382414	nvar	1
chr22:39382414	var	chr22:39382414:T/C
chr22:39385422	allele_ref	G
chr22:39385422	allele_alt	T
chr22:39385422	seqdb_ref	G
chr22:39385422	snp_fw_seq3	GGA/GTA
chr22:39385422	snp_rv_seq3	TCC/TAC
chr22:39385422	func	intronic,intronic
chr22:39385422	transcript	NM_001193289,NM_004900
chr22:39385422	genomic	.,.
chr22:39385422	codon	.,.
chr22:39385422	protein	.,.
chr22:39385422	worst	intronic
chr22:39385422	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39385422	nvar	1
chr22:39385422	var	chr22:39385422:G/T
chr22:39385423	allele_ref	A
chr22:39385423	allele_alt	C
chr22:39385423	seqdb_ref	A
chr22:39385423	snp_fw_seq3	GAG/GCG
chr22:39385423	snp_rv_seq3	CTC/CGC
chr22:39385423	func	intronic,intronic
chr22:39385423	transcript	NM_001193289,NM_004900
chr22:39385423	genomic	.,.
chr22:39385423	codon	.,.
chr22:39385423	protein	.,.
chr22:39385423	worst	intronic
chr22:39385423	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39385423	nvar	1
chr22:39385423	var	chr22:39385423:A/C
chr22:39385463	allele_ref	T
chr22:39385463	allele_alt	C
chr22:39385463	seqdb_ref	T
chr22:39385463	snp_fw_seq3	ATA/ACA
chr22:39385463	snp_rv_seq3	TAT/TGT
chr22:39385463	func	intronic,splice,missense
chr22:39385463	annot_details	DIST=1,NMD=0,OFPTV=1,EXIN=5,ISEQ=CCACAG,ESEQ=ATACCT,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS5+1T>C
chr22:39385463	transcript	NM_001193289,NM_004900,NM_004900
chr22:39385463	genomic	.,.,g.571T>C
chr22:39385463	codon	.,.,c.571TAC>CAC
chr22:39385463	protein	.,.,p.191Y>H
chr22:39385463	worst	missense
chr22:39385463	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39385463	nvar	1
chr22:39385463	var	chr22:39385463:T/C
chr22:39385663	allele_ref	G
chr22:39385663	allele_alt	A
chr22:39385663	seqdb_ref	G
chr22:39385663	snp_fw_seq3	GGG/GAG
chr22:39385663	snp_rv_seq3	CCC/CTC
chr22:39385663	func	intronic,intronic
chr22:39385663	transcript	NM_001193289,NM_004900
chr22:39385663	genomic	.,.
chr22:39385663	codon	.,.
chr22:39385663	protein	.,.
chr22:39385663	worst	intronic
chr22:39385663	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39385663	nvar	1
chr22:39385663	var	chr22:39385663:G/A
chr22:39388163	allele_ref	T
chr22:39388163	allele_alt	C
chr22:39388163	seqdb_ref	T
chr22:39388163	snp_fw_seq3	CTT/CCT
chr22:39388163	snp_rv_seq3	AAG/AGG
chr22:39388163	func	intronic,intronic
chr22:39388163	transcript	NM_001193289,NM_004900
chr22:39388163	genomic	.,.
chr22:39388163	codon	.,.
chr22:39388163	protein	.,.
chr22:39388163	worst	intronic
chr22:39388163	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39388163	nvar	1
chr22:39388163	var	chr22:39388163:T/C
chr22:39413748	allele_ref	T
chr22:39413748	allele_alt	C
chr22:39413748	seqdb_ref	T
chr22:39413748	snp_fw_seq3	GTC/GCC
chr22:39413748	snp_rv_seq3	GAC/GGC
chr22:39413748	func	intronic
chr22:39413748	transcript	NM_014508
chr22:39413748	genomic	.
chr22:39413748	codon	.
chr22:39413748	protein	.
chr22:39413748	worst	intronic
chr22:39413748	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39413748	nvar	1
chr22:39413748	var	chr22:39413748:T/C
chr22:39414087	allele_ref	G
chr22:39414087	allele_alt	A
chr22:39414087	seqdb_ref	G
chr22:39414087	snp_fw_seq3	AGG/AAG
chr22:39414087	snp_rv_seq3	CCT/CTT
chr22:39414087	func	intronic
chr22:39414087	transcript	NM_014508
chr22:39414087	genomic	.
chr22:39414087	codon	.
chr22:39414087	protein	.
chr22:39414087	worst	intronic
chr22:39414087	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39414087	nvar	1
chr22:39414087	var	chr22:39414087:G/A
chr22:39414224	allele_ref	A
chr22:39414224	allele_alt	G
chr22:39414224	seqdb_ref	A
chr22:39414224	snp_fw_seq3	CAG/CGG
chr22:39414224	snp_rv_seq3	CTG/CCG
chr22:39414224	func	intronic
chr22:39414224	transcript	NM_014508
chr22:39414224	genomic	.
chr22:39414224	codon	.
chr22:39414224	protein	.
chr22:39414224	worst	intronic
chr22:39414224	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39414224	nvar	1
chr22:39414224	var	chr22:39414224:A/G
chr22:39414240	allele_ref	G
chr22:39414240	allele_alt	A
chr22:39414240	seqdb_ref	G
chr22:39414240	snp_fw_seq3	TGG/TAG
chr22:39414240	snp_rv_seq3	CCA/CTA
chr22:39414240	func	intronic
chr22:39414240	transcript	NM_014508
chr22:39414240	genomic	.
chr22:39414240	codon	.
chr22:39414240	protein	.
chr22:39414240	worst	intronic
chr22:39414240	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39414240	nvar	1
chr22:39414240	var	chr22:39414240:G/A
chr22:39414382	allele_ref	G
chr22:39414382	allele_alt	T
chr22:39414382	seqdb_ref	G
chr22:39414382	snp_fw_seq3	AGT/ATT
chr22:39414382	snp_rv_seq3	ACT/AAT
chr22:39414382	func	missense
chr22:39414382	transcript	NM_014508
chr22:39414382	genomic	g.563G>T
chr22:39414382	codon	c.563AGT>ATT
chr22:39414382	protein	p.188S>I
chr22:39414382	worst	missense
chr22:39414382	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39414382	nvar	1
chr22:39414382	var	chr22:39414382:G/T
chr22:39421122	allele_ref	G
chr22:39421122	allele_alt	C
chr22:39421122	seqdb_ref	G
chr22:39421122	snp_fw_seq3	GGT/GCT
chr22:39421122	snp_rv_seq3	ACC/AGC
chr22:39421122	func	missense
chr22:39421122	transcript	NM_152426
chr22:39421122	genomic	g.258G>C
chr22:39421122	codon	c.258TGG>TGC
chr22:39421122	protein	p.86W>C
chr22:39421122	worst	missense
chr22:39421122	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39421122	nvar	1
chr22:39421122	var	chr22:39421122:G/C
chr22:39421153	allele_ref	C
chr22:39421153	allele_alt	T
chr22:39421153	seqdb_ref	C
chr22:39421153	snp_fw_seq3	GCG/GTG
chr22:39421153	snp_rv_seq3	CGC/CAC
chr22:39421153	func	missense
chr22:39421153	transcript	NM_152426
chr22:39421153	genomic	g.289C>T
chr22:39421153	codon	c.289CGC>TGC
chr22:39421153	protein	p.97R>C
chr22:39421153	worst	missense
chr22:39421153	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39421153	nvar	1
chr22:39421153	var	chr22:39421153:C/T
chr22:39421512	allele_ref	A
chr22:39421512	allele_alt	G
chr22:39421512	seqdb_ref	A
chr22:39421512	snp_fw_seq3	CAG/CGG
chr22:39421512	snp_rv_seq3	CTG/CCG
chr22:39421512	func	intronic
chr22:39421512	transcript	NM_152426
chr22:39421512	genomic	.
chr22:39421512	codon	.
chr22:39421512	protein	.
chr22:39421512	worst	intronic
chr22:39421512	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39421512	nvar	1
chr22:39421512	var	chr22:39421512:A/G
chr22:39425505	allele_ref	G
chr22:39425505	allele_alt	A
chr22:39425505	seqdb_ref	G
chr22:39425505	snp_fw_seq3	AGG/AAG
chr22:39425505	snp_rv_seq3	CCT/CTT
chr22:39425505	func	missense
chr22:39425505	transcript	NM_152426
chr22:39425505	genomic	g.743G>A
chr22:39425505	codon	c.743AGG>AAG
chr22:39425505	protein	p.248R>K
chr22:39425505	worst	missense
chr22:39425505	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39425505	nvar	1
chr22:39425505	var	chr22:39425505:G/A
chr22:39439067	allele_ref	G
chr22:39439067	allele_alt	C
chr22:39439067	seqdb_ref	G
chr22:39439067	snp_fw_seq3	CGT/CCT
chr22:39439067	snp_rv_seq3	ACG/AGG
chr22:39439067	func	missense,missense
chr22:39439067	transcript	NM_001006666,NM_145298
chr22:39439067	genomic	g.143G>C,g.143G>C
chr22:39439067	codon	c.143CGT>CCT,c.143CGT>CCT
chr22:39439067	protein	p.48R>P,p.48R>P
chr22:39439067	worst	missense
chr22:39439067	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39439067	nvar	1
chr22:39439067	var	chr22:39439067:G/C
chr22:39440149	allele_ref	C
chr22:39440149	allele_alt	T
chr22:39440149	seqdb_ref	c
chr22:39440149	snp_fw_seq3	gcc/gTc
chr22:39440149	snp_rv_seq3	ggc/gAc
chr22:39440149	func	missense,intronic
chr22:39440149	transcript	NM_001006666,NM_145298
chr22:39440149	genomic	g.233C>T,.
chr22:39440149	codon	c.233GCC>GTC,.
chr22:39440149	protein	p.78A>V,.
chr22:39440149	worst	missense
chr22:39440149	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39440149	nvar	1
chr22:39440149	var	chr22:39440149:C/T
chr22:39440176	allele_ref	A
chr22:39440176	allele_alt	T
chr22:39440176	seqdb_ref	A
chr22:39440176	snp_fw_seq3	CAG/CTG
chr22:39440176	snp_rv_seq3	CTG/CAG
chr22:39440176	func	missense,intronic
chr22:39440176	transcript	NM_001006666,NM_145298
chr22:39440176	genomic	g.260A>T,.
chr22:39440176	codon	c.260CAG>CTG,.
chr22:39440176	protein	p.87Q>L,.
chr22:39440176	worst	missense
chr22:39440176	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39440176	nvar	1
chr22:39440176	var	chr22:39440176:A/T
chr22:39441203	allele_ref	C
chr22:39441203	allele_alt	T
chr22:39441203	seqdb_ref	C
chr22:39441203	snp_fw_seq3	GCG/GTG
chr22:39441203	snp_rv_seq3	CGC/CAC
chr22:39441203	func	silent
chr22:39441203	transcript	NM_145298
chr22:39441203	genomic	.
chr22:39441203	codon	.
chr22:39441203	protein	.
chr22:39441203	worst	silent
chr22:39441203	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39441203	nvar	1
chr22:39441203	var	chr22:39441203:C/T
chr22:39441251	allele_ref	C
chr22:39441251	allele_alt	T
chr22:39441251	seqdb_ref	C
chr22:39441251	snp_fw_seq3	GCG/GTG
chr22:39441251	snp_rv_seq3	CGC/CAC
chr22:39441251	func	intronic
chr22:39441251	transcript	NM_145298
chr22:39441251	genomic	.
chr22:39441251	codon	.
chr22:39441251	protein	.
chr22:39441251	worst	intronic
chr22:39441251	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39441251	nvar	1
chr22:39441251	var	chr22:39441251:C/T
chr22:39445380	allele_ref	G
chr22:39445380	allele_alt	A
chr22:39445380	seqdb_ref	G
chr22:39445380	snp_fw_seq3	CGA/CAA
chr22:39445380	snp_rv_seq3	TCG/TTG
chr22:39445380	func	intronic
chr22:39445380	transcript	NM_145298
chr22:39445380	genomic	.
chr22:39445380	codon	.
chr22:39445380	protein	.
chr22:39445380	worst	intronic
chr22:39445380	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39445380	nvar	1
chr22:39445380	var	chr22:39445380:G/A
chr22:39445436	allele_ref	G
chr22:39445436	allele_alt	A
chr22:39445436	seqdb_ref	G
chr22:39445436	snp_fw_seq3	CGA/CAA
chr22:39445436	snp_rv_seq3	TCG/TTG
chr22:39445436	func	silent
chr22:39445436	transcript	NM_145298
chr22:39445436	genomic	.
chr22:39445436	codon	.
chr22:39445436	protein	.
chr22:39445436	worst	silent
chr22:39445436	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39445436	nvar	1
chr22:39445436	var	chr22:39445436:G/A
chr22:39445554	allele_ref	G
chr22:39445554	allele_alt	A
chr22:39445554	seqdb_ref	G
chr22:39445554	snp_fw_seq3	TGT/TAT
chr22:39445554	snp_rv_seq3	ACA/ATA
chr22:39445554	func	missense
chr22:39445554	transcript	NM_145298
chr22:39445554	genomic	g.691G>A
chr22:39445554	codon	c.691GTC>ATC
chr22:39445554	protein	p.231V>I
chr22:39445554	worst	missense
chr22:39445554	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39445554	nvar	1
chr22:39445554	var	chr22:39445554:G/A
chr22:39448336	allele_ref	C
chr22:39448336	allele_alt	T
chr22:39448336	seqdb_ref	C
chr22:39448336	snp_fw_seq3	CCG/CTG
chr22:39448336	snp_rv_seq3	CGG/CAG
chr22:39448336	func	silent
chr22:39448336	transcript	NM_145298
chr22:39448336	genomic	.
chr22:39448336	codon	.
chr22:39448336	protein	.
chr22:39448336	worst	silent
chr22:39448336	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39448336	nvar	1
chr22:39448336	var	chr22:39448336:C/T
chr22:39448711	allele_ref	C
chr22:39448711	allele_alt	A
chr22:39448711	seqdb_ref	C
chr22:39448711	snp_fw_seq3	CCG/CAG
chr22:39448711	snp_rv_seq3	CGG/CTG
chr22:39448711	func	3-UTR
chr22:39448711	transcript	NM_145298
chr22:39448711	genomic	.
chr22:39448711	codon	.
chr22:39448711	protein	.
chr22:39448711	worst	UTR3
chr22:39448711	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:39448711	nvar	1
chr22:39448711	var	chr22:39448711:C/A
chr22:39448750	allele_ref	T
chr22:39448750	allele_alt	C
chr22:39448750	seqdb_ref	T
chr22:39448750	snp_fw_seq3	GTT/GCT
chr22:39448750	snp_rv_seq3	AAC/AGC
chr22:39448750	func	3-UTR
chr22:39448750	transcript	NM_145298
chr22:39448750	genomic	.
chr22:39448750	codon	.
chr22:39448750	protein	.
chr22:39448750	worst	UTR3
chr22:39448750	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:39448750	nvar	1
chr22:39448750	var	chr22:39448750:T/C
chr22:39477123	allele_ref	T
chr22:39477123	allele_alt	C
chr22:39477123	seqdb_ref	T
chr22:39477123	snp_fw_seq3	TTG/TCG
chr22:39477123	snp_rv_seq3	CAA/CGA
chr22:39477123	func	silent
chr22:39477123	transcript	NM_021822
chr22:39477123	genomic	.
chr22:39477123	codon	.
chr22:39477123	protein	.
chr22:39477123	worst	silent
chr22:39477123	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39477123	nvar	1
chr22:39477123	var	chr22:39477123:T/C
chr22:39477252	allele_ref	G
chr22:39477252	allele_alt	A
chr22:39477252	seqdb_ref	G
chr22:39477252	snp_fw_seq3	AGG/AAG
chr22:39477252	snp_rv_seq3	CCT/CTT
chr22:39477252	func	intronic
chr22:39477252	transcript	NM_021822
chr22:39477252	genomic	.
chr22:39477252	codon	.
chr22:39477252	protein	.
chr22:39477252	worst	intronic
chr22:39477252	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39477252	nvar	1
chr22:39477252	var	chr22:39477252:G/A
chr22:39477566	allele_ref	A
chr22:39477566	allele_alt	G
chr22:39477566	seqdb_ref	A
chr22:39477566	snp_fw_seq3	CAC/CGC
chr22:39477566	snp_rv_seq3	GTG/GCG
chr22:39477566	func	missense
chr22:39477566	transcript	NM_021822
chr22:39477566	genomic	g.557A>G
chr22:39477566	codon	c.557CAC>CGC
chr22:39477566	protein	p.186H>R
chr22:39477566	worst	missense
chr22:39477566	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39477566	nvar	1
chr22:39477566	var	chr22:39477566:A/G
chr22:39482267	allele_ref	C
chr22:39482267	allele_alt	T
chr22:39482267	seqdb_ref	C
chr22:39482267	snp_fw_seq3	GCT/GTT
chr22:39482267	snp_rv_seq3	AGC/AAC
chr22:39482267	func	intronic
chr22:39482267	transcript	NM_021822
chr22:39482267	genomic	.
chr22:39482267	codon	.
chr22:39482267	protein	.
chr22:39482267	worst	intronic
chr22:39482267	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39482267	nvar	1
chr22:39482267	var	chr22:39482267:C/T
chr22:39482315	allele_ref	G
chr22:39482315	allele_alt	A
chr22:39482315	seqdb_ref	G
chr22:39482315	snp_fw_seq3	CGC/CAC
chr22:39482315	snp_rv_seq3	GCG/GTG
chr22:39482315	func	missense
chr22:39482315	transcript	NM_021822
chr22:39482315	genomic	g.767G>A
chr22:39482315	codon	c.767CGC>CAC
chr22:39482315	protein	p.256R>H
chr22:39482315	worst	missense
chr22:39482315	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39482315	nvar	1
chr22:39482315	var	chr22:39482315:G/A
chr22:39482371	allele_ref	C
chr22:39482371	allele_alt	G
chr22:39482371	seqdb_ref	C
chr22:39482371	snp_fw_seq3	CCA/CGA
chr22:39482371	snp_rv_seq3	TGG/TCG
chr22:39482371	func	missense
chr22:39482371	transcript	NM_021822
chr22:39482371	genomic	g.823C>G
chr22:39482371	codon	c.823CAG>GAG
chr22:39482371	protein	p.275Q>E
chr22:39482371	worst	missense
chr22:39482371	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39482371	nvar	1
chr22:39482371	var	chr22:39482371:C/G
chr22:39483078	allele_ref	G
chr22:39483078	allele_alt	A
chr22:39483078	seqdb_ref	G
chr22:39483078	snp_fw_seq3	TGG/TAG
chr22:39483078	snp_rv_seq3	CCA/CTA
chr22:39483078	func	missense
chr22:39483078	transcript	NM_021822
chr22:39483078	genomic	g.1087G>A
chr22:39483078	codon	c.1087GGA>AGA
chr22:39483078	protein	p.363G>R
chr22:39483078	worst	missense
chr22:39483078	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39483078	nvar	1
chr22:39483078	var	chr22:39483078:G/A
chr22:39483432	allele_ref	G
chr22:39483432	allele_alt	A
chr22:39483432	seqdb_ref	G
chr22:39483432	snp_fw_seq3	TGG/TAG
chr22:39483432	snp_rv_seq3	CCA/CTA
chr22:39483432	func	3-UTR
chr22:39483432	transcript	NM_021822
chr22:39483432	genomic	.
chr22:39483432	codon	.
chr22:39483432	protein	.
chr22:39483432	worst	UTR3
chr22:39483432	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:39483432	nvar	1
chr22:39483432	var	chr22:39483432:G/A
chr22:39483459	allele_ref	A
chr22:39483459	allele_alt	T
chr22:39483459	seqdb_ref	A
chr22:39483459	snp_fw_seq3	GAC/GTC
chr22:39483459	snp_rv_seq3	GTC/GAC
chr22:39483459	func	3-UTR
chr22:39483459	transcript	NM_021822
chr22:39483459	genomic	.
chr22:39483459	codon	.
chr22:39483459	protein	.
chr22:39483459	worst	UTR3
chr22:39483459	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:39483459	nvar	1
chr22:39483459	var	chr22:39483459:A/T
chr22:39496336	allele_ref	G
chr22:39496336	allele_alt	T
chr22:39496336	seqdb_ref	G
chr22:39496336	snp_fw_seq3	CGC/CTC
chr22:39496336	snp_rv_seq3	GCG/GAG
chr22:39496336	func	missense,missense,missense,missense
chr22:39496336	transcript	NM_001166002,NM_001166003,NM_001166004,NM_181773
chr22:39496336	genomic	g.53G>T,g.53G>T,g.53G>T,g.53G>T
chr22:39496336	codon	c.53CGC>CTC,c.53CGC>CTC,c.53CGC>CTC,c.53CGC>CTC
chr22:39496336	protein	p.18R>L,p.18R>L,p.18R>L,p.18R>L
chr22:39496336	worst	missense
chr22:39496336	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39496336	nvar	1
chr22:39496336	var	chr22:39496336:G/T
chr22:39496412	allele_ref	G
chr22:39496412	allele_alt	C
chr22:39496412	seqdb_ref	G
chr22:39496412	snp_fw_seq3	CGA/CCA
chr22:39496412	snp_rv_seq3	TCG/TGG
chr22:39496412	func	silent,silent,silent,silent
chr22:39496412	transcript	NM_001166002,NM_001166003,NM_001166004,NM_181773
chr22:39496412	genomic	.,.,.,.
chr22:39496412	codon	.,.,.,.
chr22:39496412	protein	.,.,.,.
chr22:39496412	worst	silent
chr22:39496412	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39496412	nvar	1
chr22:39496412	var	chr22:39496412:G/C
chr22:39497404	allele_ref	G
chr22:39497404	allele_alt	C
chr22:39497404	seqdb_ref	G
chr22:39497404	snp_fw_seq3	GGG/GCG
chr22:39497404	snp_rv_seq3	CCC/CGC
chr22:39497404	func	missense,missense,missense,missense
chr22:39497404	transcript	NM_001166002,NM_001166003,NM_001166004,NM_181773
chr22:39497404	genomic	g.313G>C,g.313G>C,g.313G>C,g.313G>C
chr22:39497404	codon	c.313GGC>CGC,c.313GGC>CGC,c.313GGC>CGC,c.313GGC>CGC
chr22:39497404	protein	p.105G>R,p.105G>R,p.105G>R,p.105G>R
chr22:39497404	worst	missense
chr22:39497404	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39497404	nvar	1
chr22:39497404	var	chr22:39497404:G/C
chr22:39497412	allele_ref	C
chr22:39497412	allele_alt	T
chr22:39497412	seqdb_ref	C
chr22:39497412	snp_fw_seq3	TCG/TTG
chr22:39497412	snp_rv_seq3	CGA/CAA
chr22:39497412	func	silent,silent,silent,silent
chr22:39497412	transcript	NM_001166002,NM_001166003,NM_001166004,NM_181773
chr22:39497412	genomic	.,.,.,.
chr22:39497412	codon	.,.,.,.
chr22:39497412	protein	.,.,.,.
chr22:39497412	worst	silent
chr22:39497412	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39497412	nvar	1
chr22:39497412	var	chr22:39497412:C/T
chr22:39497452	allele_ref	A
chr22:39497452	allele_alt	G
chr22:39497452	seqdb_ref	A
chr22:39497452	snp_fw_seq3	GAA/GGA
chr22:39497452	snp_rv_seq3	TTC/TCC
chr22:39497452	func	missense,missense,missense,missense
chr22:39497452	transcript	NM_001166002,NM_001166003,NM_001166004,NM_181773
chr22:39497452	genomic	g.361A>G,g.361A>G,g.361A>G,g.361A>G
chr22:39497452	codon	c.361AAG>GAG,c.361AAG>GAG,c.361AAG>GAG,c.361AAG>GAG
chr22:39497452	protein	p.121K>E,p.121K>E,p.121K>E,p.121K>E
chr22:39497452	worst	missense
chr22:39497452	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39497452	nvar	1
chr22:39497452	var	chr22:39497452:A/G
chr22:39497454	allele_ref	G
chr22:39497454	allele_alt	C
chr22:39497454	seqdb_ref	G
chr22:39497454	snp_fw_seq3	AGG/ACG
chr22:39497454	snp_rv_seq3	CCT/CGT
chr22:39497454	func	missense,missense,missense,missense
chr22:39497454	transcript	NM_001166002,NM_001166003,NM_001166004,NM_181773
chr22:39497454	genomic	g.363G>C,g.363G>C,g.363G>C,g.363G>C
chr22:39497454	codon	c.363AAG>AAC,c.363AAG>AAC,c.363AAG>AAC,c.363AAG>AAC
chr22:39497454	protein	p.121K>N,p.121K>N,p.121K>N,p.121K>N
chr22:39497454	worst	missense
chr22:39497454	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39497454	nvar	1
chr22:39497454	var	chr22:39497454:G/C
chr22:39497509	allele_ref	A
chr22:39497509	allele_alt	G,T
chr22:39497509	seqdb_ref	A
chr22:39497509	func	splice,missense,nonsense,splice,missense,nonsense,splice,missense,missense,splice,missense,nonsense
chr22:39497509	annot_details	DIST=0,NMD=0,OFPTV=0,EXIN=3,ISEQ=GTAGGA,ESEQ=TCCCAA,SPLICE_TYPE=donor,ALT=G,HGVS=c.IVS3+0A>G,NMD=1,OFPTV=1,PEPSIZE=183->140,HGVS=p.K140*,DIST=0,NMD=0,OFPTV=0,EXIN=3,ISEQ=GTAGGA,ESEQ=TCCCAA,SPLICE_TYPE=donor,ALT=G,HGVS=c.IVS3+0A>G,NMD=1,OFPTV=1,PEPSIZE=201->140,HGVS=p.K140*,DIST=0,NMD=0,OFPTV=0,EXIN=3,ISEQ=GTAGGA,ESEQ=TCCCAA,SPLICE_TYPE=donor,ALT=G,HGVS=c.IVS3+0A>G,DIST=0,NMD=0,OFPTV=0,EXIN=3,ISEQ=GTAGGA,ESEQ=TCCCAA,SPLICE_TYPE=donor,ALT=G,HGVS=c.IVS3+0A>G,NMD=1,OFPTV=1,PEPSIZE=184->140,HGVS=p.K140*
chr22:39497509	transcript	NM_001166002,NM_001166002,NM_001166002,NM_001166003,NM_001166003,NM_001166003,NM_001166004,NM_001166004,NM_001166004,NM_181773,NM_181773,NM_181773
chr22:39497509	genomic	.,g.418A>G,g.418A>T,.,g.418A>G,g.418A>T,.,g.418A>G,g.418A>T,.,g.418A>G,g.418A>T
chr22:39497509	codon	.,c.418AAG>GAG,c.418AAG>TAG,.,c.418AAG>GAG,c.418AAG>TAG,.,c.418AAT>GAT,c.418AAT>TAT,.,c.418AAG>GAG,c.418AAG>TAG
chr22:39497509	protein	.,p.140K>E,p.140K>*,.,p.140K>E,p.140K>*,.,p.140N>D,p.140N>Y,.,p.140K>E,p.140K>*
chr22:39497509	worst	nonsense
chr22:39497509	class	mixed,NON=3,SL=0,MIS=5,SYN=0,ESPL=0,CSPL=0,SPL=4,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39497509	nvar	1
chr22:39497509	var	chr22:39497509:A/G,T
chr22:39497549	allele_ref	C
chr22:39497549	allele_alt	T
chr22:39497549	seqdb_ref	C
chr22:39497549	snp_fw_seq3	CCG/CTG
chr22:39497549	snp_rv_seq3	CGG/CAG
chr22:39497549	func	intronic,intronic,intronic,intronic
chr22:39497549	transcript	NM_001166002,NM_001166003,NM_001166004,NM_181773
chr22:39497549	genomic	.,.,.,.
chr22:39497549	codon	.,.,.,.
chr22:39497549	protein	.,.,.,.
chr22:39497549	worst	intronic
chr22:39497549	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39497549	nvar	1
chr22:39497549	var	chr22:39497549:C/T
chr22:39498038	allele_ref	G
chr22:39498038	allele_alt	C
chr22:39498038	seqdb_ref	G
chr22:39498038	snp_fw_seq3	AGA/ACA
chr22:39498038	snp_rv_seq3	TCT/TGT
chr22:39498038	func	missense,missense,intronic,missense
chr22:39498038	transcript	NM_001166002,NM_001166003,NM_001166004,NM_181773
chr22:39498038	genomic	g.534G>C,g.534G>C,.,g.534G>C
chr22:39498038	codon	c.534GAG>GAC,c.534GAG>GAC,.,c.534GAG>GAC
chr22:39498038	protein	p.178E>D,p.178E>D,.,p.178E>D
chr22:39498038	worst	missense
chr22:39498038	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39498038	nvar	1
chr22:39498038	var	chr22:39498038:G/C
chr22:39499653	allele_ref	C
chr22:39499653	allele_alt	T
chr22:39499653	seqdb_ref	C
chr22:39499653	snp_fw_seq3	CCC/CTC
chr22:39499653	snp_rv_seq3	GGG/GAG
chr22:39499653	func	intronic,intronic,intronic
chr22:39499653	transcript	NM_001166002,NM_001166003,NM_181773
chr22:39499653	genomic	.,.,.
chr22:39499653	codon	.,.,.
chr22:39499653	protein	.,.,.
chr22:39499653	worst	intronic
chr22:39499653	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39499653	nvar	1
chr22:39499653	var	chr22:39499653:C/T
chr22:39537456	allele_ref	G
chr22:39537456	allele_alt	C
chr22:39537456	seqdb_ref	G
chr22:39537456	snp_fw_seq3	TGA/TCA
chr22:39537456	snp_rv_seq3	TCA/TGA
chr22:39537456	func	intronic
chr22:39537456	transcript	NM_175709
chr22:39537456	genomic	.
chr22:39537456	codon	.
chr22:39537456	protein	.
chr22:39537456	worst	intronic
chr22:39537456	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39537456	nvar	1
chr22:39537456	var	chr22:39537456:G/C
chr22:39621882	allele_ref	C
chr22:39621882	allele_alt	T
chr22:39621882	seqdb_ref	C
chr22:39621882	snp_fw_seq3	GCA/GTA
chr22:39621882	snp_rv_seq3	TGC/TAC
chr22:39621882	func	intronic,intronic
chr22:39621882	transcript	NM_002608,NM_033016
chr22:39621882	genomic	.,.
chr22:39621882	codon	.,.
chr22:39621882	protein	.,.
chr22:39621882	worst	intronic
chr22:39621882	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39621882	nvar	1
chr22:39621882	var	chr22:39621882:C/T
chr22:39627630	allele_ref	G
chr22:39627630	allele_alt	C
chr22:39627630	seqdb_ref	G
chr22:39627630	snp_fw_seq3	GGA/GCA
chr22:39627630	snp_rv_seq3	TCC/TGC
chr22:39627630	func	silent,splice,silent,splice
chr22:39627630	annot_details	DIST=-3,NMD=0,OFPTV=1,EXIN=4,ISEQ=TGCGTG,ESEQ=GACCTG,SPLICE_TYPE=donor,ALT=G,HGVS=c.IVS4+-3C>G,DIST=-3,NMD=0,OFPTV=1,EXIN=4,ISEQ=TGCGTG,ESEQ=GACCTG,SPLICE_TYPE=donor,ALT=G,HGVS=c.IVS4+-3C>G
chr22:39627630	transcript	NM_002608,NM_002608,NM_033016,NM_033016
chr22:39627630	genomic	.,.,.,.
chr22:39627630	codon	.,.,.,.
chr22:39627630	protein	.,.,.,.
chr22:39627630	worst	splice
chr22:39627630	class	mixed,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39627630	nvar	1
chr22:39627630	var	chr22:39627630:G/C
chr22:39629418	allele_ref	T
chr22:39629418	allele_alt	C
chr22:39629418	seqdb_ref	T
chr22:39629418	snp_fw_seq3	CTT/CCT
chr22:39629418	snp_rv_seq3	AAG/AGG
chr22:39629418	func	intronic,intronic
chr22:39629418	transcript	NM_002608,NM_033016
chr22:39629418	genomic	.,.
chr22:39629418	codon	.,.
chr22:39629418	protein	.,.
chr22:39629418	worst	intronic
chr22:39629418	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39629418	nvar	1
chr22:39629418	var	chr22:39629418:T/C
chr22:39631747	allele_ref	C
chr22:39631747	allele_alt	G
chr22:39631747	seqdb_ref	C
chr22:39631747	snp_fw_seq3	TCG/TGG
chr22:39631747	snp_rv_seq3	CGA/CCA
chr22:39631747	func	intronic,intronic
chr22:39631747	transcript	NM_002608,NM_033016
chr22:39631747	genomic	.,.
chr22:39631747	codon	.,.
chr22:39631747	protein	.,.
chr22:39631747	worst	intronic
chr22:39631747	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39631747	nvar	1
chr22:39631747	var	chr22:39631747:C/G
chr22:39636853	allele_ref	T
chr22:39636853	allele_alt	C
chr22:39636853	seqdb_ref	T
chr22:39636853	snp_fw_seq3	GTA/GCA
chr22:39636853	snp_rv_seq3	TAC/TGC
chr22:39636853	func	intronic,intronic
chr22:39636853	transcript	NM_002608,NM_033016
chr22:39636853	genomic	.,.
chr22:39636853	codon	.,.
chr22:39636853	protein	.,.
chr22:39636853	worst	intronic
chr22:39636853	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39636853	nvar	1
chr22:39636853	var	chr22:39636853:T/C
chr22:39708926	allele_ref	G
chr22:39708926	allele_alt	A
chr22:39708926	seqdb_ref	G
chr22:39708926	snp_fw_seq3	TGC/TAC
chr22:39708926	snp_rv_seq3	GCA/GTA
chr22:39708926	func	3-UTR,3-UTR
chr22:39708926	transcript	NM_000967,NM_001033853
chr22:39708926	genomic	.,.
chr22:39708926	codon	.,.
chr22:39708926	protein	.,.
chr22:39708926	worst	UTR3
chr22:39708926	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:39708926	nvar	1
chr22:39708926	var	chr22:39708926:G/A
chr22:39709605	allele_ref	G
chr22:39709605	allele_alt	A
chr22:39709605	seqdb_ref	G
chr22:39709605	snp_fw_seq3	AGA/AAA
chr22:39709605	snp_rv_seq3	TCT/TTT
chr22:39709605	func	intronic,intronic
chr22:39709605	transcript	NM_000967,NM_001033853
chr22:39709605	genomic	.,.
chr22:39709605	codon	.,.
chr22:39709605	protein	.,.
chr22:39709605	worst	intronic
chr22:39709605	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39709605	nvar	1
chr22:39709605	var	chr22:39709605:G/A
chr22:39709681	allele_ref	G
chr22:39709681	allele_alt	A
chr22:39709681	seqdb_ref	G
chr22:39709681	snp_fw_seq3	AGC/AAC
chr22:39709681	snp_rv_seq3	GCT/GTT
chr22:39709681	func	silent,silent
chr22:39709681	transcript	NM_000967,NM_001033853
chr22:39709681	genomic	.,.
chr22:39709681	codon	.,.
chr22:39709681	protein	.,.
chr22:39709681	worst	silent
chr22:39709681	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39709681	nvar	1
chr22:39709681	var	chr22:39709681:G/A
chr22:39709776	allele_ref	T
chr22:39709776	allele_alt	C
chr22:39709776	seqdb_ref	T
chr22:39709776	snp_fw_seq3	ATT/ACT
chr22:39709776	snp_rv_seq3	AAT/AGT
chr22:39709776	func	intronic,intronic
chr22:39709776	transcript	NM_000967,NM_001033853
chr22:39709776	genomic	.,.
chr22:39709776	codon	.,.
chr22:39709776	protein	.,.
chr22:39709776	worst	intronic
chr22:39709776	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39709776	nvar	1
chr22:39709776	var	chr22:39709776:T/C
chr22:39710211	allele_ref	A
chr22:39710211	allele_alt	G
chr22:39710211	seqdb_ref	A
chr22:39710211	snp_fw_seq3	AAA/AGA
chr22:39710211	snp_rv_seq3	TTT/TCT
chr22:39710211	func	silent,splice,silent,splice
chr22:39710211	annot_details	DIST=-2,NMD=0,OFPTV=1,EXIN=7,ISEQ=GACTTA,ESEQ=TATTTA,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS7+-2T>C,DIST=-2,NMD=0,OFPTV=1,EXIN=7,ISEQ=GACTTA,ESEQ=TATTTA,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS7+-2T>C
chr22:39710211	transcript	NM_000967,NM_000967,NM_001033853,NM_001033853
chr22:39710211	genomic	.,.,.,.
chr22:39710211	codon	.,.,.,.
chr22:39710211	protein	.,.,.,.
chr22:39710211	worst	splice
chr22:39710211	class	mixed,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39710211	nvar	1
chr22:39710211	var	chr22:39710211:A/G
chr22:39710244	allele_ref	G
chr22:39710244	allele_alt	A
chr22:39710244	seqdb_ref	G
chr22:39710244	snp_fw_seq3	GGC/GAC
chr22:39710244	snp_rv_seq3	GCC/GTC
chr22:39710244	func	intronic,intronic
chr22:39710244	transcript	NM_000967,NM_001033853
chr22:39710244	genomic	.,.
chr22:39710244	codon	.,.
chr22:39710244	protein	.,.
chr22:39710244	worst	intronic
chr22:39710244	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39710244	nvar	1
chr22:39710244	var	chr22:39710244:G/A
chr22:39710664	allele_ref	C
chr22:39710664	allele_alt	T
chr22:39710664	seqdb_ref	C
chr22:39710664	snp_fw_seq3	CCC/CTC
chr22:39710664	snp_rv_seq3	GGG/GAG
chr22:39710664	func	intronic,intronic
chr22:39710664	transcript	NM_000967,NM_001033853
chr22:39710664	genomic	.,.
chr22:39710664	codon	.,.
chr22:39710664	protein	.,.
chr22:39710664	worst	intronic
chr22:39710664	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39710664	nvar	1
chr22:39710664	var	chr22:39710664:C/T
chr22:39710721	allele_ref	G
chr22:39710721	allele_alt	C
chr22:39710721	seqdb_ref	G
chr22:39710721	snp_fw_seq3	AGC/ACC
chr22:39710721	snp_rv_seq3	GCT/GGT
chr22:39710721	func	silent,silent
chr22:39710721	transcript	NM_000967,NM_001033853
chr22:39710721	genomic	.,.
chr22:39710721	codon	.,.
chr22:39710721	protein	.,.
chr22:39710721	worst	silent
chr22:39710721	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39710721	nvar	1
chr22:39710721	var	chr22:39710721:G/C
chr22:39711351	allele_ref	A
chr22:39711351	allele_alt	G
chr22:39711351	seqdb_ref	A
chr22:39711351	snp_fw_seq3	AAC/AGC
chr22:39711351	snp_rv_seq3	GTT/GCT
chr22:39711351	func	intronic,intronic
chr22:39711351	transcript	NM_000967,NM_001033853
chr22:39711351	genomic	.,.
chr22:39711351	codon	.,.
chr22:39711351	protein	.,.
chr22:39711351	worst	intronic
chr22:39711351	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39711351	nvar	1
chr22:39711351	var	chr22:39711351:A/G
chr22:39711495	allele_ref	A
chr22:39711495	allele_alt	G
chr22:39711495	seqdb_ref	A
chr22:39711495	snp_fw_seq3	CAG/CGG
chr22:39711495	snp_rv_seq3	CTG/CCG
chr22:39711495	func	silent,silent
chr22:39711495	transcript	NM_000967,NM_001033853
chr22:39711495	genomic	.,.
chr22:39711495	codon	.,.
chr22:39711495	protein	.,.
chr22:39711495	worst	silent
chr22:39711495	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39711495	nvar	1
chr22:39711495	var	chr22:39711495:A/G
chr22:39714394	allele_ref	T
chr22:39714394	allele_alt	C
chr22:39714394	seqdb_ref	T
chr22:39714394	snp_fw_seq3	GTC/GCC
chr22:39714394	snp_rv_seq3	GAC/GGC
chr22:39714394	func	intronic,intronic
chr22:39714394	transcript	NM_000967,NM_001033853
chr22:39714394	genomic	.,.
chr22:39714394	codon	.,.
chr22:39714394	protein	.,.
chr22:39714394	worst	intronic
chr22:39714394	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39714394	nvar	1
chr22:39714394	var	chr22:39714394:T/C
chr22:39714490	allele_ref	C
chr22:39714490	allele_alt	T
chr22:39714490	seqdb_ref	C
chr22:39714490	snp_fw_seq3	ACG/ATG
chr22:39714490	snp_rv_seq3	CGT/CAT
chr22:39714490	func	silent,silent
chr22:39714490	transcript	NM_000967,NM_001033853
chr22:39714490	genomic	.,.
chr22:39714490	codon	.,.
chr22:39714490	protein	.,.
chr22:39714490	worst	silent
chr22:39714490	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39714490	nvar	1
chr22:39714490	var	chr22:39714490:C/T
chr22:39714580	allele_ref	G
chr22:39714580	allele_alt	A
chr22:39714580	seqdb_ref	G
chr22:39714580	snp_fw_seq3	CGG/CAG
chr22:39714580	snp_rv_seq3	CCG/CTG
chr22:39714580	func	silent,silent
chr22:39714580	transcript	NM_000967,NM_001033853
chr22:39714580	genomic	.,.
chr22:39714580	codon	.,.
chr22:39714580	protein	.,.
chr22:39714580	worst	silent
chr22:39714580	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39714580	nvar	1
chr22:39714580	var	chr22:39714580:G/A
chr22:39760172	allele_ref	G
chr22:39760172	allele_alt	A
chr22:39760172	seqdb_ref	G
chr22:39760172	snp_fw_seq3	AGG/AAG
chr22:39760172	snp_rv_seq3	CCT/CTT
chr22:39760172	func	intronic,intronic
chr22:39760172	transcript	NM_004711,NM_145731
chr22:39760172	genomic	.,.
chr22:39760172	codon	.,.
chr22:39760172	protein	.,.
chr22:39760172	worst	intronic
chr22:39760172	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39760172	nvar	1
chr22:39760172	var	chr22:39760172:G/A
chr22:39770500	allele_ref	G
chr22:39770500	allele_alt	A
chr22:39770500	seqdb_ref	G
chr22:39770500	snp_fw_seq3	CGC/CAC
chr22:39770500	snp_rv_seq3	GCG/GTG
chr22:39770500	func	silent,silent,silent
chr22:39770500	transcript	NM_004711,NM_145731,NM_145738
chr22:39770500	genomic	.,.,.
chr22:39770500	codon	.,.,.
chr22:39770500	protein	.,.,.
chr22:39770500	worst	silent
chr22:39770500	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39770500	nvar	1
chr22:39770500	var	chr22:39770500:G/A
chr22:39770597	allele_ref	A
chr22:39770597	allele_alt	G
chr22:39770597	seqdb_ref	A
chr22:39770597	snp_fw_seq3	TAC/TGC
chr22:39770597	snp_rv_seq3	GTA/GCA
chr22:39770597	func	intronic,intronic,intronic
chr22:39770597	transcript	NM_004711,NM_145731,NM_145738
chr22:39770597	genomic	.,.,.
chr22:39770597	codon	.,.,.
chr22:39770597	protein	.,.,.
chr22:39770597	worst	intronic
chr22:39770597	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39770597	nvar	1
chr22:39770597	var	chr22:39770597:A/G
chr22:39772029	allele_ref	T
chr22:39772029	allele_alt	C
chr22:39772029	seqdb_ref	T
chr22:39772029	snp_fw_seq3	CTA/CCA
chr22:39772029	snp_rv_seq3	TAG/TGG
chr22:39772029	func	intronic,intronic,intronic
chr22:39772029	transcript	NM_004711,NM_145731,NM_145738
chr22:39772029	genomic	.,.,.
chr22:39772029	codon	.,.,.
chr22:39772029	protein	.,.,.
chr22:39772029	worst	intronic
chr22:39772029	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39772029	nvar	1
chr22:39772029	var	chr22:39772029:T/C
chr22:39772181	allele_ref	C
chr22:39772181	allele_alt	G
chr22:39772181	seqdb_ref	C
chr22:39772181	snp_fw_seq3	CCT/CGT
chr22:39772181	snp_rv_seq3	AGG/ACG
chr22:39772181	func	silent,silent,silent
chr22:39772181	transcript	NM_004711,NM_145731,NM_145738
chr22:39772181	genomic	.,.,.
chr22:39772181	codon	.,.,.
chr22:39772181	protein	.,.,.
chr22:39772181	worst	silent
chr22:39772181	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39772181	nvar	1
chr22:39772181	var	chr22:39772181:C/G
chr22:39772220	allele_ref	G
chr22:39772220	allele_alt	C
chr22:39772220	seqdb_ref	G
chr22:39772220	snp_fw_seq3	CGC/CCC
chr22:39772220	snp_rv_seq3	GCG/GGG
chr22:39772220	func	intronic,intronic,intronic
chr22:39772220	transcript	NM_004711,NM_145731,NM_145738
chr22:39772220	genomic	.,.,.
chr22:39772220	codon	.,.,.
chr22:39772220	protein	.,.,.
chr22:39772220	worst	intronic
chr22:39772220	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39772220	nvar	1
chr22:39772220	var	chr22:39772220:G/C
chr22:39777666	allele_ref	C
chr22:39777666	allele_alt	T
chr22:39777666	seqdb_ref	C
chr22:39777666	snp_fw_seq3	CCG/CTG
chr22:39777666	snp_rv_seq3	CGG/CAG
chr22:39777666	func	intronic
chr22:39777666	transcript	NM_004711
chr22:39777666	genomic	.
chr22:39777666	codon	.
chr22:39777666	protein	.
chr22:39777666	worst	intronic
chr22:39777666	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39777666	nvar	1
chr22:39777666	var	chr22:39777666:C/T
chr22:39795852	allele_ref	G
chr22:39795852	allele_alt	A
chr22:39795852	seqdb_ref	G
chr22:39795852	snp_fw_seq3	GGC/GAC
chr22:39795852	snp_rv_seq3	GCC/GTC
chr22:39795852	func	intronic,intronic
chr22:39795852	transcript	NM_006116,NM_153497
chr22:39795852	genomic	.,.
chr22:39795852	codon	.,.
chr22:39795852	protein	.,.
chr22:39795852	worst	intronic
chr22:39795852	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39795852	nvar	1
chr22:39795852	var	chr22:39795852:G/A
chr22:39810972	allele_ref	C
chr22:39810972	allele_alt	T
chr22:39810972	seqdb_ref	C
chr22:39810972	snp_fw_seq3	ACG/ATG
chr22:39810972	snp_rv_seq3	CGT/CAT
chr22:39810972	func	intronic,intronic
chr22:39810972	transcript	NM_006116,NM_153497
chr22:39810972	genomic	.,.
chr22:39810972	codon	.,.
chr22:39810972	protein	.,.
chr22:39810972	worst	intronic
chr22:39810972	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39810972	nvar	1
chr22:39810972	var	chr22:39810972:C/T
chr22:39811485	allele_ref	C
chr22:39811485	allele_alt	G
chr22:39811485	seqdb_ref	C
chr22:39811485	snp_fw_seq3	TCT/TGT
chr22:39811485	snp_rv_seq3	AGA/ACA
chr22:39811485	func	intronic,intronic
chr22:39811485	transcript	NM_006116,NM_153497
chr22:39811485	genomic	.,.
chr22:39811485	codon	.,.
chr22:39811485	protein	.,.
chr22:39811485	worst	intronic
chr22:39811485	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39811485	nvar	1
chr22:39811485	var	chr22:39811485:C/G
chr22:39812769	allele_ref	C
chr22:39812769	allele_alt	G
chr22:39812769	seqdb_ref	C
chr22:39812769	snp_fw_seq3	GCC/GGC
chr22:39812769	snp_rv_seq3	GGC/GCC
chr22:39812769	func	intronic,intronic
chr22:39812769	transcript	NM_006116,NM_153497
chr22:39812769	genomic	.,.
chr22:39812769	codon	.,.
chr22:39812769	protein	.,.
chr22:39812769	worst	intronic
chr22:39812769	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39812769	nvar	1
chr22:39812769	var	chr22:39812769:C/G
chr22:39815519	allele_ref	C
chr22:39815519	allele_alt	T
chr22:39815519	seqdb_ref	C
chr22:39815519	snp_fw_seq3	CCG/CTG
chr22:39815519	snp_rv_seq3	CGG/CAG
chr22:39815519	func	intronic,splice,intronic,splice
chr22:39815519	annot_details	DIST=-5,NMD=0,OFPTV=1,EXIN=7,ISEQ=CCGTAG,ESEQ=GCTTGG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS7+-5C>T,DIST=-5,NMD=0,OFPTV=1,EXIN=7,ISEQ=CCGTAG,ESEQ=GCTTGG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS7+-5C>T
chr22:39815519	transcript	NM_006116,NM_006116,NM_153497,NM_153497
chr22:39815519	genomic	.,.,.,.
chr22:39815519	codon	.,.,.,.
chr22:39815519	protein	.,.,.,.
chr22:39815519	worst	splice
chr22:39815519	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39815519	nvar	1
chr22:39815519	var	chr22:39815519:C/T
chr22:39815646	allele_ref	G
chr22:39815646	allele_alt	A
chr22:39815646	seqdb_ref	G
chr22:39815646	snp_fw_seq3	AGC/AAC
chr22:39815646	snp_rv_seq3	GCT/GTT
chr22:39815646	func	intronic,intronic
chr22:39815646	transcript	NM_006116,NM_153497
chr22:39815646	genomic	.,.
chr22:39815646	codon	.,.
chr22:39815646	protein	.,.
chr22:39815646	worst	intronic
chr22:39815646	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39815646	nvar	1
chr22:39815646	var	chr22:39815646:G/A
chr22:39822761	allele_ref	A
chr22:39822761	allele_alt	G
chr22:39822761	seqdb_ref	A
chr22:39822761	snp_fw_seq3	CAG/CGG
chr22:39822761	snp_rv_seq3	CTG/CCG
chr22:39822761	func	silent,silent
chr22:39822761	transcript	NM_006116,NM_153497
chr22:39822761	genomic	.,.
chr22:39822761	codon	.,.
chr22:39822761	protein	.,.
chr22:39822761	worst	silent
chr22:39822761	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39822761	nvar	1
chr22:39822761	var	chr22:39822761:A/G
chr22:39822851	allele_ref	C
chr22:39822851	allele_alt	T
chr22:39822851	seqdb_ref	C
chr22:39822851	snp_fw_seq3	ACG/ATG
chr22:39822851	snp_rv_seq3	CGT/CAT
chr22:39822851	func	silent,silent
chr22:39822851	transcript	NM_006116,NM_153497
chr22:39822851	genomic	.,.
chr22:39822851	codon	.,.
chr22:39822851	protein	.,.
chr22:39822851	worst	silent
chr22:39822851	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39822851	nvar	1
chr22:39822851	var	chr22:39822851:C/T
chr22:39826250	allele_ref	A
chr22:39826250	allele_alt	G
chr22:39826250	seqdb_ref	A
chr22:39826250	snp_fw_seq3	AAG/AGG
chr22:39826250	snp_rv_seq3	CTT/CCT
chr22:39826250	func	3-UTR,intronic
chr22:39826250	transcript	NM_006116,NM_153497
chr22:39826250	genomic	.,.
chr22:39826250	codon	.,.
chr22:39826250	protein	.,.
chr22:39826250	worst	UTR3
chr22:39826250	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:39826250	nvar	1
chr22:39826250	var	chr22:39826250:A/G
chr22:39883344	allele_ref	T
chr22:39883344	allele_alt	C
chr22:39883344	seqdb_ref	T
chr22:39883344	snp_fw_seq3	CTC/CCC
chr22:39883344	snp_rv_seq3	GAG/GGG
chr22:39883344	func	5-UTR,intronic
chr22:39883344	transcript	NM_001098270,NM_002409
chr22:39883344	genomic	.,.
chr22:39883344	codon	.,.
chr22:39883344	protein	.,.
chr22:39883344	worst	UTR5
chr22:39883344	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:39883344	nvar	1
chr22:39883344	var	chr22:39883344:T/C
chr22:39883736	allele_ref	G
chr22:39883736	allele_alt	C
chr22:39883736	seqdb_ref	G
chr22:39883736	snp_fw_seq3	CGC/CCC
chr22:39883736	snp_rv_seq3	GCG/GGG
chr22:39883736	func	silent,silent
chr22:39883736	transcript	NM_001098270,NM_002409
chr22:39883736	genomic	.,.
chr22:39883736	codon	.,.
chr22:39883736	protein	.,.
chr22:39883736	worst	silent
chr22:39883736	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39883736	nvar	1
chr22:39883736	var	chr22:39883736:G/C
chr22:39907422	allele_ref	C
chr22:39907422	allele_alt	T
chr22:39907422	seqdb_ref	C
chr22:39907422	snp_fw_seq3	TCG/TTG
chr22:39907422	snp_rv_seq3	CGA/CAA
chr22:39907422	func	silent
chr22:39907422	transcript	NM_019008
chr22:39907422	genomic	.
chr22:39907422	codon	.
chr22:39907422	protein	.
chr22:39907422	worst	silent
chr22:39907422	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39907422	nvar	1
chr22:39907422	var	chr22:39907422:C/T
chr22:39907975	allele_ref	C
chr22:39907975	allele_alt	T
chr22:39907975	seqdb_ref	C
chr22:39907975	snp_fw_seq3	ACG/ATG
chr22:39907975	snp_rv_seq3	CGT/CAT
chr22:39907975	func	missense
chr22:39907975	transcript	NM_019008
chr22:39907975	genomic	g.266C>T
chr22:39907975	codon	c.266ACG>ATG
chr22:39907975	protein	p.89T>M
chr22:39907975	worst	missense
chr22:39907975	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39907975	nvar	1
chr22:39907975	var	chr22:39907975:C/T
chr22:39909722	allele_ref	C
chr22:39909722	allele_alt	T
chr22:39909722	seqdb_ref	C
chr22:39909722	snp_fw_seq3	TCG/TTG
chr22:39909722	snp_rv_seq3	CGA/CAA
chr22:39909722	func	silent
chr22:39909722	transcript	NM_019008
chr22:39909722	genomic	.
chr22:39909722	codon	.
chr22:39909722	protein	.
chr22:39909722	worst	silent
chr22:39909722	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39909722	nvar	1
chr22:39909722	var	chr22:39909722:C/T
chr22:39909836	allele_ref	G
chr22:39909836	allele_alt	A
chr22:39909836	seqdb_ref	G
chr22:39909836	snp_fw_seq3	TGC/TAC
chr22:39909836	snp_rv_seq3	GCA/GTA
chr22:39909836	func	silent
chr22:39909836	transcript	NM_019008
chr22:39909836	genomic	.
chr22:39909836	codon	.
chr22:39909836	protein	.
chr22:39909836	worst	silent
chr22:39909836	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39909836	nvar	1
chr22:39909836	var	chr22:39909836:G/A
chr22:39910268	allele_ref	C
chr22:39910268	allele_alt	T
chr22:39910268	seqdb_ref	C
chr22:39910268	snp_fw_seq3	ACG/ATG
chr22:39910268	snp_rv_seq3	CGT/CAT
chr22:39910268	func	silent
chr22:39910268	transcript	NM_019008
chr22:39910268	genomic	.
chr22:39910268	codon	.
chr22:39910268	protein	.
chr22:39910268	worst	silent
chr22:39910268	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39910268	nvar	1
chr22:39910268	var	chr22:39910268:C/T
chr22:39917515	allele_ref	A
chr22:39917515	allele_alt	C
chr22:39917515	seqdb_ref	A
chr22:39917515	snp_fw_seq3	CAG/CCG
chr22:39917515	snp_rv_seq3	CTG/CGG
chr22:39917515	func	missense,missense
chr22:39917515	transcript	NM_001675,NM_182810
chr22:39917515	genomic	g.65A>C,g.65A>C
chr22:39917515	codon	c.65CAG>CCG,c.65CAG>CCG
chr22:39917515	protein	p.22Q>P,p.22Q>P
chr22:39917515	worst	missense
chr22:39917515	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39917515	nvar	1
chr22:39917515	var	chr22:39917515:A/C
chr22:39917753	allele_ref	G
chr22:39917753	allele_alt	T
chr22:39917753	seqdb_ref	G
chr22:39917753	snp_fw_seq3	GGC/GTC
chr22:39917753	snp_rv_seq3	GCC/GAC
chr22:39917753	func	intronic,intronic
chr22:39917753	transcript	NM_001675,NM_182810
chr22:39917753	genomic	.,.
chr22:39917753	codon	.,.
chr22:39917753	protein	.,.
chr22:39917753	worst	intronic
chr22:39917753	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39917753	nvar	1
chr22:39917753	var	chr22:39917753:G/T
chr22:39917927	allele_ref	C
chr22:39917927	allele_alt	G
chr22:39917927	seqdb_ref	C
chr22:39917927	snp_fw_seq3	CCT/CGT
chr22:39917927	snp_rv_seq3	AGG/ACG
chr22:39917927	func	missense,missense
chr22:39917927	transcript	NM_001675,NM_182810
chr22:39917927	genomic	g.376C>G,g.376C>G
chr22:39917927	codon	c.376CTA>GTA,c.376CTA>GTA
chr22:39917927	protein	p.126L>V,p.126L>V
chr22:39917927	worst	missense
chr22:39917927	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39917927	nvar	1
chr22:39917927	var	chr22:39917927:C/G
chr22:39918151	allele_ref	C
chr22:39918151	allele_alt	T
chr22:39918151	seqdb_ref	C
chr22:39918151	snp_fw_seq3	ACG/ATG
chr22:39918151	snp_rv_seq3	CGT/CAT
chr22:39918151	func	silent,silent
chr22:39918151	transcript	NM_001675,NM_182810
chr22:39918151	genomic	.,.
chr22:39918151	codon	.,.
chr22:39918151	protein	.,.
chr22:39918151	worst	silent
chr22:39918151	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39918151	nvar	1
chr22:39918151	var	chr22:39918151:C/T
chr22:39918152	allele_ref	G
chr22:39918152	allele_alt	A
chr22:39918152	seqdb_ref	G
chr22:39918152	snp_fw_seq3	CGT/CAT
chr22:39918152	snp_rv_seq3	ACG/ATG
chr22:39918152	func	missense,missense
chr22:39918152	transcript	NM_001675,NM_182810
chr22:39918152	genomic	g.601G>A,g.601G>A
chr22:39918152	codon	c.601GTT>ATT,c.601GTT>ATT
chr22:39918152	protein	p.201V>I,p.201V>I
chr22:39918152	worst	missense
chr22:39918152	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39918152	nvar	1
chr22:39918152	var	chr22:39918152:G/A
chr22:39918412	allele_ref	A
chr22:39918412	allele_alt	G
chr22:39918412	seqdb_ref	A
chr22:39918412	snp_fw_seq3	AAA/AGA
chr22:39918412	snp_rv_seq3	TTT/TCT
chr22:39918412	func	silent,silent
chr22:39918412	transcript	NM_001675,NM_182810
chr22:39918412	genomic	.,.
chr22:39918412	codon	.,.
chr22:39918412	protein	.,.
chr22:39918412	worst	silent
chr22:39918412	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39918412	nvar	1
chr22:39918412	var	chr22:39918412:A/G
chr22:39918517	allele_ref	G
chr22:39918517	allele_alt	C
chr22:39918517	seqdb_ref	G
chr22:39918517	snp_fw_seq3	AGA/ACA
chr22:39918517	snp_rv_seq3	TCT/TGT
chr22:39918517	func	missense,missense
chr22:39918517	transcript	NM_001675,NM_182810
chr22:39918517	genomic	g.966G>C,g.966G>C
chr22:39918517	codon	c.966GAG>GAC,c.966GAG>GAC
chr22:39918517	protein	p.322E>D,p.322E>D
chr22:39918517	worst	missense
chr22:39918517	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39918517	nvar	1
chr22:39918517	var	chr22:39918517:G/C
chr22:39918608	allele_ref	T
chr22:39918608	allele_alt	G
chr22:39918608	seqdb_ref	T
chr22:39918608	snp_fw_seq3	GTT/GGT
chr22:39918608	snp_rv_seq3	AAC/ACC
chr22:39918608	func	3-UTR,3-UTR
chr22:39918608	transcript	NM_001675,NM_182810
chr22:39918608	genomic	.,.
chr22:39918608	codon	.,.
chr22:39918608	protein	.,.
chr22:39918608	worst	UTR3
chr22:39918608	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:39918608	nvar	1
chr22:39918608	var	chr22:39918608:T/G
chr22:39925642	allele_ref	G
chr22:39925642	allele_alt	C
chr22:39925642	seqdb_ref	G
chr22:39925642	snp_fw_seq3	CGG/CCG
chr22:39925642	snp_rv_seq3	CCG/CGG
chr22:39925642	func	intronic
chr22:39925642	transcript	NM_194326
chr22:39925642	genomic	.
chr22:39925642	codon	.
chr22:39925642	protein	.
chr22:39925642	worst	intronic
chr22:39925642	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39925642	nvar	1
chr22:39925642	var	chr22:39925642:G/C
chr22:39925806	allele_ref	T
chr22:39925806	allele_alt	C
chr22:39925806	seqdb_ref	T
chr22:39925806	snp_fw_seq3	CTA/CCA
chr22:39925806	snp_rv_seq3	TAG/TGG
chr22:39925806	func	intronic
chr22:39925806	transcript	NM_194326
chr22:39925806	genomic	.
chr22:39925806	codon	.
chr22:39925806	protein	.
chr22:39925806	worst	intronic
chr22:39925806	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39925806	nvar	1
chr22:39925806	var	chr22:39925806:T/C
chr22:39928517	allele_ref	G
chr22:39928517	allele_alt	A
chr22:39928517	seqdb_ref	G
chr22:39928517	snp_fw_seq3	GGG/GAG
chr22:39928517	snp_rv_seq3	CCC/CTC
chr22:39928517	func	missense
chr22:39928517	transcript	NM_194326
chr22:39928517	genomic	g.64G>A
chr22:39928517	codon	c.64CCT>TCT
chr22:39928517	protein	p.22P>S
chr22:39928517	worst	missense
chr22:39928517	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39928517	nvar	1
chr22:39928517	var	chr22:39928517:G/A
chr22:39928547	allele_ref	G
chr22:39928547	allele_alt	A
chr22:39928547	seqdb_ref	G
chr22:39928547	snp_fw_seq3	GGA/GAA
chr22:39928547	snp_rv_seq3	TCC/TTC
chr22:39928547	func	intronic
chr22:39928547	transcript	NM_194326
chr22:39928547	genomic	.
chr22:39928547	codon	.
chr22:39928547	protein	.
chr22:39928547	worst	intronic
chr22:39928547	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39928547	nvar	1
chr22:39928547	var	chr22:39928547:G/A
chr22:39928738	allele_ref	G
chr22:39928738	allele_alt	A
chr22:39928738	seqdb_ref	G
chr22:39928738	snp_fw_seq3	CGG/CAG
chr22:39928738	snp_rv_seq3	CCG/CTG
chr22:39928738	func	silent
chr22:39928738	transcript	NM_194326
chr22:39928738	genomic	.
chr22:39928738	codon	.
chr22:39928738	protein	.
chr22:39928738	worst	silent
chr22:39928738	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39928738	nvar	1
chr22:39928738	var	chr22:39928738:G/A
chr22:39966777	allele_ref	C
chr22:39966777	allele_alt	T
chr22:39966777	seqdb_ref	C
chr22:39966777	snp_fw_seq3	CCG/CTG
chr22:39966777	snp_rv_seq3	CGG/CAG
chr22:39966777	func	missense,missense
chr22:39966777	transcript	NM_001003406,NM_021096
chr22:39966777	genomic	g.20C>T,g.20C>T
chr22:39966777	codon	c.20CCG>CTG,c.20CCG>CTG
chr22:39966777	protein	p.7P>L,p.7P>L
chr22:39966777	worst	missense
chr22:39966777	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39966777	nvar	1
chr22:39966777	var	chr22:39966777:C/T
chr22:39966856	allele_ref	C
chr22:39966856	allele_alt	T
chr22:39966856	seqdb_ref	C
chr22:39966856	snp_fw_seq3	CCT/CTT
chr22:39966856	snp_rv_seq3	AGG/AAG
chr22:39966856	func	silent,silent
chr22:39966856	transcript	NM_001003406,NM_021096
chr22:39966856	genomic	.,.
chr22:39966856	codon	.,.
chr22:39966856	protein	.,.
chr22:39966856	worst	silent
chr22:39966856	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:39966856	nvar	1
chr22:39966856	var	chr22:39966856:C/T
chr22:40030520	allele_ref	T
chr22:40030520	allele_alt	C
chr22:40030520	seqdb_ref	T
chr22:40030520	snp_fw_seq3	CTG/CCG
chr22:40030520	snp_rv_seq3	CAG/CGG
chr22:40030520	func	intronic,intronic
chr22:40030520	transcript	NM_001003406,NM_021096
chr22:40030520	genomic	.,.
chr22:40030520	codon	.,.
chr22:40030520	protein	.,.
chr22:40030520	worst	intronic
chr22:40030520	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40030520	nvar	1
chr22:40030520	var	chr22:40030520:T/C
chr22:40030766	allele_ref	A
chr22:40030766	allele_alt	G
chr22:40030766	seqdb_ref	A
chr22:40030766	snp_fw_seq3	GAC/GGC
chr22:40030766	snp_rv_seq3	GTC/GCC
chr22:40030766	func	intronic,intronic
chr22:40030766	transcript	NM_001003406,NM_021096
chr22:40030766	genomic	.,.
chr22:40030766	codon	.,.
chr22:40030766	protein	.,.
chr22:40030766	worst	intronic
chr22:40030766	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40030766	nvar	1
chr22:40030766	var	chr22:40030766:A/G
chr22:40036950	allele_ref	C
chr22:40036950	allele_alt	T
chr22:40036950	seqdb_ref	C
chr22:40036950	snp_fw_seq3	GCG/GTG
chr22:40036950	snp_rv_seq3	CGC/CAC
chr22:40036950	func	silent,silent
chr22:40036950	transcript	NM_001003406,NM_021096
chr22:40036950	genomic	.,.
chr22:40036950	codon	.,.
chr22:40036950	protein	.,.
chr22:40036950	worst	silent
chr22:40036950	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40036950	nvar	1
chr22:40036950	var	chr22:40036950:C/T
chr22:40043812	allele_ref	A
chr22:40043812	allele_alt	G
chr22:40043812	seqdb_ref	a
chr22:40043812	snp_fw_seq3	tat/tGt
chr22:40043812	snp_rv_seq3	ata/aCa
chr22:40043812	func	intronic,intronic
chr22:40043812	transcript	NM_001003406,NM_021096
chr22:40043812	genomic	.,.
chr22:40043812	codon	.,.
chr22:40043812	protein	.,.
chr22:40043812	worst	intronic
chr22:40043812	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40043812	nvar	1
chr22:40043812	var	chr22:40043812:A/G
chr22:40043867	allele_ref	C
chr22:40043867	allele_alt	T
chr22:40043867	seqdb_ref	C
chr22:40043867	snp_fw_seq3	TCG/TTG
chr22:40043867	snp_rv_seq3	CGA/CAA
chr22:40043867	func	intronic,silent
chr22:40043867	transcript	NM_001003406,NM_021096
chr22:40043867	genomic	.,.
chr22:40043867	codon	.,.
chr22:40043867	protein	.,.
chr22:40043867	worst	silent
chr22:40043867	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40043867	nvar	1
chr22:40043867	var	chr22:40043867:C/T
chr22:40045718	allele_ref	G
chr22:40045718	allele_alt	T
chr22:40045718	seqdb_ref	G
chr22:40045718	snp_fw_seq3	GGC/GTC
chr22:40045718	snp_rv_seq3	GCC/GAC
chr22:40045718	func	missense,missense
chr22:40045718	transcript	NM_001003406,NM_021096
chr22:40045718	genomic	g.1675G>T,g.1780G>T
chr22:40045718	codon	c.1675GCC>TCC,c.1780GCC>TCC
chr22:40045718	protein	p.559A>S,p.594A>S
chr22:40045718	worst	missense
chr22:40045718	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40045718	nvar	1
chr22:40045718	var	chr22:40045718:G/T
chr22:40054285	allele_ref	C
chr22:40054285	allele_alt	T
chr22:40054285	seqdb_ref	C
chr22:40054285	snp_fw_seq3	TCG/TTG
chr22:40054285	snp_rv_seq3	CGA/CAA
chr22:40054285	func	silent,silent
chr22:40054285	transcript	NM_001003406,NM_021096
chr22:40054285	genomic	.,.
chr22:40054285	codon	.,.
chr22:40054285	protein	.,.
chr22:40054285	worst	silent
chr22:40054285	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40054285	nvar	1
chr22:40054285	var	chr22:40054285:C/T
chr22:40054335	allele_ref	G
chr22:40054335	allele_alt	A
chr22:40054335	seqdb_ref	G
chr22:40054335	snp_fw_seq3	AGC/AAC
chr22:40054335	snp_rv_seq3	GCT/GTT
chr22:40054335	func	intronic,intronic
chr22:40054335	transcript	NM_001003406,NM_021096
chr22:40054335	genomic	.,.
chr22:40054335	codon	.,.
chr22:40054335	protein	.,.
chr22:40054335	worst	intronic
chr22:40054335	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40054335	nvar	1
chr22:40054335	var	chr22:40054335:G/A
chr22:40054907	allele_ref	T
chr22:40054907	allele_alt	A
chr22:40054907	seqdb_ref	T
chr22:40054907	snp_fw_seq3	GTA/GAA
chr22:40054907	snp_rv_seq3	TAC/TTC
chr22:40054907	func	intronic,intronic
chr22:40054907	transcript	NM_001003406,NM_021096
chr22:40054907	genomic	.,.
chr22:40054907	codon	.,.
chr22:40054907	protein	.,.
chr22:40054907	worst	intronic
chr22:40054907	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40054907	nvar	1
chr22:40054907	var	chr22:40054907:T/A
chr22:40054948	allele_ref	T
chr22:40054948	allele_alt	C
chr22:40054948	seqdb_ref	T
chr22:40054948	snp_fw_seq3	TTG/TCG
chr22:40054948	snp_rv_seq3	CAA/CGA
chr22:40054948	func	silent,silent
chr22:40054948	transcript	NM_001003406,NM_021096
chr22:40054948	genomic	.,.
chr22:40054948	codon	.,.
chr22:40054948	protein	.,.
chr22:40054948	worst	silent
chr22:40054948	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40054948	nvar	1
chr22:40054948	var	chr22:40054948:T/C
chr22:40055136	allele_ref	C
chr22:40055136	allele_alt	G
chr22:40055136	seqdb_ref	C
chr22:40055136	snp_fw_seq3	GCT/GGT
chr22:40055136	snp_rv_seq3	AGC/ACC
chr22:40055136	func	intronic,intronic
chr22:40055136	transcript	NM_001003406,NM_021096
chr22:40055136	genomic	.,.
chr22:40055136	codon	.,.
chr22:40055136	protein	.,.
chr22:40055136	worst	intronic
chr22:40055136	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40055136	nvar	1
chr22:40055136	var	chr22:40055136:C/G
chr22:40055667	allele_ref	G
chr22:40055667	allele_alt	A
chr22:40055667	seqdb_ref	G
chr22:40055667	snp_fw_seq3	AGG/AAG
chr22:40055667	snp_rv_seq3	CCT/CTT
chr22:40055667	func	intronic,intronic
chr22:40055667	transcript	NM_001003406,NM_021096
chr22:40055667	genomic	.,.
chr22:40055667	codon	.,.
chr22:40055667	protein	.,.
chr22:40055667	worst	intronic
chr22:40055667	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40055667	nvar	1
chr22:40055667	var	chr22:40055667:G/A
chr22:40055782	allele_ref	C
chr22:40055782	allele_alt	T
chr22:40055782	seqdb_ref	C
chr22:40055782	snp_fw_seq3	TCG/TTG
chr22:40055782	snp_rv_seq3	CGA/CAA
chr22:40055782	func	silent,silent
chr22:40055782	transcript	NM_001003406,NM_021096
chr22:40055782	genomic	.,.
chr22:40055782	codon	.,.
chr22:40055782	protein	.,.
chr22:40055782	worst	silent
chr22:40055782	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40055782	nvar	1
chr22:40055782	var	chr22:40055782:C/T
chr22:40055896	allele_ref	T
chr22:40055896	allele_alt	C
chr22:40055896	seqdb_ref	T
chr22:40055896	snp_fw_seq3	GTC/GCC
chr22:40055896	snp_rv_seq3	GAC/GGC
chr22:40055896	func	intronic,intronic
chr22:40055896	transcript	NM_001003406,NM_021096
chr22:40055896	genomic	.,.
chr22:40055896	codon	.,.
chr22:40055896	protein	.,.
chr22:40055896	worst	intronic
chr22:40055896	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40055896	nvar	1
chr22:40055896	var	chr22:40055896:T/C
chr22:40057273	allele_ref	T
chr22:40057273	allele_alt	C
chr22:40057273	seqdb_ref	T
chr22:40057273	snp_fw_seq3	GTG/GCG
chr22:40057273	snp_rv_seq3	CAC/CGC
chr22:40057273	func	silent,silent
chr22:40057273	transcript	NM_001003406,NM_021096
chr22:40057273	genomic	.,.
chr22:40057273	codon	.,.
chr22:40057273	protein	.,.
chr22:40057273	worst	silent
chr22:40057273	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40057273	nvar	1
chr22:40057273	var	chr22:40057273:T/C
chr22:40058186	allele_ref	A
chr22:40058186	allele_alt	G
chr22:40058186	seqdb_ref	A
chr22:40058186	snp_fw_seq3	CAT/CGT
chr22:40058186	snp_rv_seq3	ATG/ACG
chr22:40058186	func	missense,missense
chr22:40058186	transcript	NM_001003406,NM_021096
chr22:40058186	genomic	g.3013A>G,g.3118A>G
chr22:40058186	codon	c.3013ATT>GTT,c.3118ATT>GTT
chr22:40058186	protein	p.1005I>V,p.1040I>V
chr22:40058186	worst	missense
chr22:40058186	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40058186	nvar	1
chr22:40058186	var	chr22:40058186:A/G
chr22:40060767	allele_ref	C
chr22:40060767	allele_alt	T
chr22:40060767	seqdb_ref	C
chr22:40060767	snp_fw_seq3	TCG/TTG
chr22:40060767	snp_rv_seq3	CGA/CAA
chr22:40060767	func	silent,silent
chr22:40060767	transcript	NM_001003406,NM_021096
chr22:40060767	genomic	.,.
chr22:40060767	codon	.,.
chr22:40060767	protein	.,.
chr22:40060767	worst	silent
chr22:40060767	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40060767	nvar	1
chr22:40060767	var	chr22:40060767:C/T
chr22:40064419	allele_ref	T
chr22:40064419	allele_alt	A
chr22:40064419	seqdb_ref	T
chr22:40064419	snp_fw_seq3	ATG/AAG
chr22:40064419	snp_rv_seq3	CAT/CTT
chr22:40064419	func	intronic,intronic
chr22:40064419	transcript	NM_001003406,NM_021096
chr22:40064419	genomic	.,.
chr22:40064419	codon	.,.
chr22:40064419	protein	.,.
chr22:40064419	worst	intronic
chr22:40064419	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40064419	nvar	1
chr22:40064419	var	chr22:40064419:T/A
chr22:40066958	allele_ref	C
chr22:40066958	allele_alt	T
chr22:40066958	seqdb_ref	C
chr22:40066958	snp_fw_seq3	ACG/ATG
chr22:40066958	snp_rv_seq3	CGT/CAT
chr22:40066958	func	splice,missense,splice,missense
chr22:40066958	annot_details	DIST=-1,NMD=0,OFPTV=1,EXIN=25,ISEQ=GTGAGC,ESEQ=CCCACG,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS25+-1C>T,DIST=-1,NMD=0,OFPTV=1,EXIN=26,ISEQ=GTGAGC,ESEQ=CCCACG,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS26+-1C>T
chr22:40066958	transcript	NM_001003406,NM_001003406,NM_021096,NM_021096
chr22:40066958	genomic	.,g.4433C>T,.,g.4538C>T
chr22:40066958	codon	.,c.4433ACG>ATG,.,c.4538ACG>ATG
chr22:40066958	protein	.,p.1478T>M,.,p.1513T>M
chr22:40066958	worst	missense
chr22:40066958	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40066958	nvar	1
chr22:40066958	var	chr22:40066958:C/T
chr22:40069029	allele_ref	G
chr22:40069029	allele_alt	A
chr22:40069029	seqdb_ref	G
chr22:40069029	snp_fw_seq3	CGG/CAG
chr22:40069029	snp_rv_seq3	CCG/CTG
chr22:40069029	func	silent,silent
chr22:40069029	transcript	NM_001003406,NM_021096
chr22:40069029	genomic	.,.
chr22:40069029	codon	.,.
chr22:40069029	protein	.,.
chr22:40069029	worst	silent
chr22:40069029	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40069029	nvar	1
chr22:40069029	var	chr22:40069029:G/A
chr22:40069919	allele_ref	G
chr22:40069919	allele_alt	A
chr22:40069919	seqdb_ref	G
chr22:40069919	snp_fw_seq3	CGT/CAT
chr22:40069919	snp_rv_seq3	ACG/ATG
chr22:40069919	func	intronic,intronic
chr22:40069919	transcript	NM_001003406,NM_021096
chr22:40069919	genomic	.,.
chr22:40069919	codon	.,.
chr22:40069919	protein	.,.
chr22:40069919	worst	intronic
chr22:40069919	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40069919	nvar	1
chr22:40069919	var	chr22:40069919:G/A
chr22:40069928	allele_ref	G
chr22:40069928	allele_alt	A
chr22:40069928	seqdb_ref	G
chr22:40069928	snp_fw_seq3	CGG/CAG
chr22:40069928	snp_rv_seq3	CCG/CTG
chr22:40069928	func	intronic,intronic
chr22:40069928	transcript	NM_001003406,NM_021096
chr22:40069928	genomic	.,.
chr22:40069928	codon	.,.
chr22:40069928	protein	.,.
chr22:40069928	worst	intronic
chr22:40069928	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40069928	nvar	1
chr22:40069928	var	chr22:40069928:G/A
chr22:40140163	allele_ref	G
chr22:40140163	allele_alt	A
chr22:40140163	seqdb_ref	G
chr22:40140163	snp_fw_seq3	AGA/AAA
chr22:40140163	snp_rv_seq3	TCT/TTT
chr22:40140163	func	silent
chr22:40140163	transcript	NM_152512
chr22:40140163	genomic	.
chr22:40140163	codon	.
chr22:40140163	protein	.
chr22:40140163	worst	silent
chr22:40140163	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40140163	nvar	1
chr22:40140163	var	chr22:40140163:G/A
chr22:40161439	allele_ref	C
chr22:40161439	allele_alt	G
chr22:40161439	seqdb_ref	C
chr22:40161439	snp_fw_seq3	ACC/AGC
chr22:40161439	snp_rv_seq3	GGT/GCT
chr22:40161439	func	missense
chr22:40161439	transcript	NM_152512
chr22:40161439	genomic	g.1008C>G
chr22:40161439	codon	c.1008TGG>TGC
chr22:40161439	protein	p.336W>C
chr22:40161439	worst	missense
chr22:40161439	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40161439	nvar	1
chr22:40161439	var	chr22:40161439:C/G
chr22:40161572	allele_ref	C
chr22:40161572	allele_alt	G
chr22:40161572	seqdb_ref	C
chr22:40161572	snp_fw_seq3	TCT/TGT
chr22:40161572	snp_rv_seq3	AGA/ACA
chr22:40161572	func	missense
chr22:40161572	transcript	NM_152512
chr22:40161572	genomic	g.875C>G
chr22:40161572	codon	c.875AGA>ACA
chr22:40161572	protein	p.292R>T
chr22:40161572	worst	missense
chr22:40161572	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40161572	nvar	1
chr22:40161572	var	chr22:40161572:C/G
chr22:40217114	allele_ref	A
chr22:40217114	allele_alt	G
chr22:40217114	seqdb_ref	A
chr22:40217114	snp_fw_seq3	CAG/CGG
chr22:40217114	snp_rv_seq3	CTG/CCG
chr22:40217114	func	splice,missense
chr22:40217114	annot_details	DIST=-4,NMD=0,OFPTV=0,EXIN=5,ISEQ=GACTGT,ESEQ=GTCCAG,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS5+-4T>C
chr22:40217114	transcript	NM_152512,NM_152512
chr22:40217114	genomic	.,g.716A>G
chr22:40217114	codon	.,c.716CTG>CCG
chr22:40217114	protein	.,p.239L>P
chr22:40217114	worst	missense
chr22:40217114	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40217114	nvar	1
chr22:40217114	var	chr22:40217114:A/G
chr22:40231839	allele_ref	A
chr22:40231839	allele_alt	G
chr22:40231839	seqdb_ref	A
chr22:40231839	snp_fw_seq3	GAC/GGC
chr22:40231839	snp_rv_seq3	GTC/GCC
chr22:40231839	func	intronic
chr22:40231839	transcript	NM_152512
chr22:40231839	genomic	.
chr22:40231839	codon	.
chr22:40231839	protein	.
chr22:40231839	worst	intronic
chr22:40231839	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40231839	nvar	1
chr22:40231839	var	chr22:40231839:A/G
chr22:40257783	allele_ref	C
chr22:40257783	allele_alt	G
chr22:40257783	seqdb_ref	C
chr22:40257783	snp_fw_seq3	ACC/AGC
chr22:40257783	snp_rv_seq3	GGT/GCT
chr22:40257783	func	missense
chr22:40257783	transcript	NM_152512
chr22:40257783	genomic	g.579C>G
chr22:40257783	codon	c.579AGG>AGC
chr22:40257783	protein	p.193R>S
chr22:40257783	worst	missense
chr22:40257783	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40257783	nvar	1
chr22:40257783	var	chr22:40257783:C/G
chr22:40258005	allele_ref	A
chr22:40258005	allele_alt	G
chr22:40258005	seqdb_ref	A
chr22:40258005	snp_fw_seq3	TAT/TGT
chr22:40258005	snp_rv_seq3	ATA/ACA
chr22:40258005	func	silent
chr22:40258005	transcript	NM_152512
chr22:40258005	genomic	.
chr22:40258005	codon	.
chr22:40258005	protein	.
chr22:40258005	worst	silent
chr22:40258005	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40258005	nvar	1
chr22:40258005	var	chr22:40258005:A/G
chr22:40283561	allele_ref	A
chr22:40283561	allele_alt	G
chr22:40283561	seqdb_ref	A
chr22:40283561	snp_fw_seq3	CAT/CGT
chr22:40283561	snp_rv_seq3	ATG/ACG
chr22:40283561	func	silent
chr22:40283561	transcript	NM_152512
chr22:40283561	genomic	.
chr22:40283561	codon	.
chr22:40283561	protein	.
chr22:40283561	worst	silent
chr22:40283561	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40283561	nvar	1
chr22:40283561	var	chr22:40283561:A/G
chr22:40283727	allele_ref	T
chr22:40283727	allele_alt	A
chr22:40283727	seqdb_ref	T
chr22:40283727	snp_fw_seq3	GTT/GAT
chr22:40283727	snp_rv_seq3	AAC/ATC
chr22:40283727	func	missense
chr22:40283727	transcript	NM_152512
chr22:40283727	genomic	g.26T>A
chr22:40283727	codon	c.26AAC>ATC
chr22:40283727	protein	p.9N>I
chr22:40283727	worst	missense
chr22:40283727	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40283727	nvar	1
chr22:40283727	var	chr22:40283727:T/A
chr22:40356069	allele_ref	G
chr22:40356069	allele_alt	A
chr22:40356069	seqdb_ref	G
chr22:40356069	snp_fw_seq3	CGA/CAA
chr22:40356069	snp_rv_seq3	TCG/TTG
chr22:40356069	func	missense
chr22:40356069	transcript	NM_004810
chr22:40356069	genomic	g.181G>A
chr22:40356069	codon	c.181GAA>AAA
chr22:40356069	protein	p.61E>K
chr22:40356069	worst	missense
chr22:40356069	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40356069	nvar	1
chr22:40356069	var	chr22:40356069:G/A
chr22:40361957	allele_ref	C
chr22:40361957	allele_alt	T
chr22:40361957	seqdb_ref	C
chr22:40361957	snp_fw_seq3	CCG/CTG
chr22:40361957	snp_rv_seq3	CGG/CAG
chr22:40361957	func	intronic
chr22:40361957	transcript	NM_004810
chr22:40361957	genomic	.
chr22:40361957	codon	.
chr22:40361957	protein	.
chr22:40361957	worst	intronic
chr22:40361957	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40361957	nvar	1
chr22:40361957	var	chr22:40361957:C/T
chr22:40364052	allele_ref	C
chr22:40364052	allele_alt	T
chr22:40364052	seqdb_ref	C
chr22:40364052	snp_fw_seq3	CCG/CTG
chr22:40364052	snp_rv_seq3	CGG/CAG
chr22:40364052	func	missense
chr22:40364052	transcript	NM_004810
chr22:40364052	genomic	g.466C>T
chr22:40364052	codon	c.466CGG>TGG
chr22:40364052	protein	p.156R>W
chr22:40364052	worst	missense
chr22:40364052	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40364052	nvar	1
chr22:40364052	var	chr22:40364052:C/T
chr22:40365463	allele_ref	G
chr22:40365463	allele_alt	A
chr22:40365463	seqdb_ref	G
chr22:40365463	snp_fw_seq3	CGG/CAG
chr22:40365463	snp_rv_seq3	CCG/CTG
chr22:40365463	func	missense
chr22:40365463	transcript	NM_004810
chr22:40365463	genomic	g.739G>A
chr22:40365463	codon	c.739GGC>AGC
chr22:40365463	protein	p.247G>S
chr22:40365463	worst	missense
chr22:40365463	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40365463	nvar	1
chr22:40365463	var	chr22:40365463:G/A
chr22:40367070	allele_ref	G
chr22:40367070	allele_alt	A
chr22:40367070	seqdb_ref	G
chr22:40367070	snp_fw_seq3	TGG/TAG
chr22:40367070	snp_rv_seq3	CCA/CTA
chr22:40367070	func	silent
chr22:40367070	transcript	NM_004810
chr22:40367070	genomic	.
chr22:40367070	codon	.
chr22:40367070	protein	.
chr22:40367070	worst	silent
chr22:40367070	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40367070	nvar	1
chr22:40367070	var	chr22:40367070:G/A
chr22:40415140	allele_ref	C
chr22:40415140	allele_alt	T
chr22:40415140	seqdb_ref	C
chr22:40415140	snp_fw_seq3	CCG/CTG
chr22:40415140	snp_rv_seq3	CGG/CAG
chr22:40415140	func	intronic
chr22:40415140	transcript	NM_138435
chr22:40415140	genomic	.
chr22:40415140	codon	.
chr22:40415140	protein	.
chr22:40415140	worst	intronic
chr22:40415140	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40415140	nvar	1
chr22:40415140	var	chr22:40415140:C/T
chr22:40415323	allele_ref	C
chr22:40415323	allele_alt	T
chr22:40415323	seqdb_ref	C
chr22:40415323	snp_fw_seq3	ACT/ATT
chr22:40415323	snp_rv_seq3	AGT/AAT
chr22:40415323	func	missense
chr22:40415323	transcript	NM_138435
chr22:40415323	genomic	g.641C>T
chr22:40415323	codon	c.641ACT>ATT
chr22:40415323	protein	p.214T>I
chr22:40415323	worst	missense
chr22:40415323	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40415323	nvar	1
chr22:40415323	var	chr22:40415323:C/T
chr22:40415968	allele_ref	G
chr22:40415968	allele_alt	T
chr22:40415968	seqdb_ref	G
chr22:40415968	snp_fw_seq3	GGT/GTT
chr22:40415968	snp_rv_seq3	ACC/AAC
chr22:40415968	func	missense
chr22:40415968	transcript	NM_138435
chr22:40415968	genomic	g.735G>T
chr22:40415968	codon	c.735AGG>AGT
chr22:40415968	protein	p.245R>S
chr22:40415968	worst	missense
chr22:40415968	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40415968	nvar	1
chr22:40415968	var	chr22:40415968:G/T
chr22:40416025	allele_ref	G
chr22:40416025	allele_alt	A
chr22:40416025	seqdb_ref	G
chr22:40416025	snp_fw_seq3	CGG/CAG
chr22:40416025	snp_rv_seq3	CCG/CTG
chr22:40416025	func	intronic
chr22:40416025	transcript	NM_138435
chr22:40416025	genomic	.
chr22:40416025	codon	.
chr22:40416025	protein	.
chr22:40416025	worst	intronic
chr22:40416025	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40416025	nvar	1
chr22:40416025	var	chr22:40416025:G/A
chr22:40417372	allele_ref	G
chr22:40417372	allele_alt	A
chr22:40417372	seqdb_ref	G
chr22:40417372	snp_fw_seq3	CGG/CAG
chr22:40417372	snp_rv_seq3	CCG/CTG
chr22:40417372	func	silent
chr22:40417372	transcript	NM_138435
chr22:40417372	genomic	.
chr22:40417372	codon	.
chr22:40417372	protein	.
chr22:40417372	worst	silent
chr22:40417372	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40417372	nvar	1
chr22:40417372	var	chr22:40417372:G/A
chr22:40417495	allele_ref	C
chr22:40417495	allele_alt	T
chr22:40417495	seqdb_ref	C
chr22:40417495	snp_fw_seq3	ACG/ATG
chr22:40417495	snp_rv_seq3	CGT/CAT
chr22:40417495	func	silent
chr22:40417495	transcript	NM_138435
chr22:40417495	genomic	.
chr22:40417495	codon	.
chr22:40417495	protein	.
chr22:40417495	worst	silent
chr22:40417495	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40417495	nvar	1
chr22:40417495	var	chr22:40417495:C/T
chr22:40417780	allele_ref	C
chr22:40417780	allele_alt	T
chr22:40417780	seqdb_ref	C
chr22:40417780	snp_fw_seq3	ACG/ATG
chr22:40417780	snp_rv_seq3	CGT/CAT
chr22:40417780	func	silent
chr22:40417780	transcript	NM_138435
chr22:40417780	genomic	.
chr22:40417780	codon	.
chr22:40417780	protein	.
chr22:40417780	worst	silent
chr22:40417780	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40417780	nvar	1
chr22:40417780	var	chr22:40417780:C/T
chr22:40417820	allele_ref	A
chr22:40417820	allele_alt	G
chr22:40417820	seqdb_ref	A
chr22:40417820	snp_fw_seq3	CAG/CGG
chr22:40417820	snp_rv_seq3	CTG/CCG
chr22:40417820	func	missense
chr22:40417820	transcript	NM_138435
chr22:40417820	genomic	g.1306A>G
chr22:40417820	codon	c.1306AGG>GGG
chr22:40417820	protein	p.436R>G
chr22:40417820	worst	missense
chr22:40417820	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40417820	nvar	1
chr22:40417820	var	chr22:40417820:A/G
chr22:40574170	allele_ref	T
chr22:40574170	allele_alt	A
chr22:40574170	seqdb_ref	T
chr22:40574170	snp_fw_seq3	TTA/TAA
chr22:40574170	snp_rv_seq3	TAA/TTA
chr22:40574170	func	intronic,intronic,intronic
chr22:40574170	transcript	NM_001024843,NM_001162501,NM_015088
chr22:40574170	genomic	.,.,.
chr22:40574170	codon	.,.,.
chr22:40574170	protein	.,.,.
chr22:40574170	worst	intronic
chr22:40574170	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40574170	nvar	1
chr22:40574170	var	chr22:40574170:T/A
chr22:40661502	allele_ref	G
chr22:40661502	allele_alt	T
chr22:40661502	seqdb_ref	G
chr22:40661502	snp_fw_seq3	GGA/GTA
chr22:40661502	snp_rv_seq3	TCC/TAC
chr22:40661502	func	intronic,missense,missense
chr22:40661502	transcript	NM_001024843,NM_001162501,NM_015088
chr22:40661502	genomic	.,g.1268G>T,g.1268G>T
chr22:40661502	codon	.,c.1268GGA>GTA,c.1268GGA>GTA
chr22:40661502	protein	.,p.423G>V,p.423G>V
chr22:40661502	worst	missense
chr22:40661502	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40661502	nvar	1
chr22:40661502	var	chr22:40661502:G/T
chr22:40661566	allele_ref	A
chr22:40661566	allele_alt	C
chr22:40661566	seqdb_ref	A
chr22:40661566	snp_fw_seq3	GAA/GCA
chr22:40661566	snp_rv_seq3	TTC/TGC
chr22:40661566	func	intronic,silent,silent
chr22:40661566	transcript	NM_001024843,NM_001162501,NM_015088
chr22:40661566	genomic	.,.,.
chr22:40661566	codon	.,.,.
chr22:40661566	protein	.,.,.
chr22:40661566	worst	silent
chr22:40661566	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40661566	nvar	1
chr22:40661566	var	chr22:40661566:A/C
chr22:40666230	allele_ref	T
chr22:40666230	allele_alt	C
chr22:40666230	seqdb_ref	T
chr22:40666230	snp_fw_seq3	ATC/ACC
chr22:40666230	snp_rv_seq3	GAT/GGT
chr22:40666230	func	missense,missense,intronic
chr22:40666230	transcript	NM_001024843,NM_001162501,NM_015088
chr22:40666230	genomic	g.670T>C,g.2911T>C,.
chr22:40666230	codon	c.670TCG>CCG,c.2911TCG>CCG,.
chr22:40666230	protein	p.224S>P,p.971S>P,.
chr22:40666230	worst	missense
chr22:40666230	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40666230	nvar	1
chr22:40666230	var	chr22:40666230:T/C
chr22:40669648	allele_ref	A
chr22:40669648	allele_alt	G
chr22:40669648	seqdb_ref	A
chr22:40669648	snp_fw_seq3	GAA/GGA
chr22:40669648	snp_rv_seq3	TTC/TCC
chr22:40669648	func	intronic,intronic,intronic
chr22:40669648	transcript	NM_001024843,NM_001162501,NM_015088
chr22:40669648	genomic	.,.,.
chr22:40669648	codon	.,.,.
chr22:40669648	protein	.,.,.
chr22:40669648	worst	intronic
chr22:40669648	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40669648	nvar	1
chr22:40669648	var	chr22:40669648:A/G
chr22:40673999	allele_ref	C
chr22:40673999	allele_alt	T
chr22:40673999	seqdb_ref	C
chr22:40673999	snp_fw_seq3	TCC/TTC
chr22:40673999	snp_rv_seq3	GGA/GAA
chr22:40673999	func	intronic,splice,intronic,splice,intronic,splice
chr22:40673999	annot_details	DIST=-4,NMD=0,OFPTV=1,EXIN=11,ISEQ=TTCCAG,ESEQ=AGTCAG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS11+-4C>T,DIST=-4,NMD=0,OFPTV=0,EXIN=9,ISEQ=TTCCAG,ESEQ=AGTCAG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS9+-4C>T,DIST=-4,NMD=0,OFPTV=0,EXIN=8,ISEQ=TTCCAG,ESEQ=AGTCAG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS8+-4C>T
chr22:40673999	transcript	NM_001024843,NM_001024843,NM_001162501,NM_001162501,NM_015088,NM_015088
chr22:40673999	genomic	.,.,.,.,.,.
chr22:40673999	codon	.,.,.,.,.,.
chr22:40673999	protein	.,.,.,.,.,.
chr22:40673999	worst	splice
chr22:40673999	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=3,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40673999	nvar	1
chr22:40673999	var	chr22:40673999:C/T
chr22:40676184	allele_ref	A
chr22:40676184	allele_alt	G
chr22:40676184	seqdb_ref	A
chr22:40676184	snp_fw_seq3	GAG/GGG
chr22:40676184	snp_rv_seq3	CTC/CCC
chr22:40676184	func	intronic,intronic,intronic
chr22:40676184	transcript	NM_001024843,NM_001162501,NM_015088
chr22:40676184	genomic	.,.,.
chr22:40676184	codon	.,.,.
chr22:40676184	protein	.,.,.
chr22:40676184	worst	intronic
chr22:40676184	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40676184	nvar	1
chr22:40676184	var	chr22:40676184:A/G
chr22:40681788	allele_ref	C
chr22:40681788	allele_alt	T
chr22:40681788	seqdb_ref	C
chr22:40681788	snp_fw_seq3	ACG/ATG
chr22:40681788	snp_rv_seq3	CGT/CAT
chr22:40681788	func	intronic,intronic,intronic
chr22:40681788	transcript	NM_001024843,NM_001162501,NM_015088
chr22:40681788	genomic	.,.,.
chr22:40681788	codon	.,.,.
chr22:40681788	protein	.,.,.
chr22:40681788	worst	intronic
chr22:40681788	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40681788	nvar	1
chr22:40681788	var	chr22:40681788:C/T
chr22:40697377	allele_ref	A
chr22:40697377	allele_alt	G
chr22:40697377	seqdb_ref	A
chr22:40697377	snp_fw_seq3	TAC/TGC
chr22:40697377	snp_rv_seq3	GTA/GCA
chr22:40697377	func	intronic,intronic,intronic
chr22:40697377	transcript	NM_001024843,NM_001162501,NM_015088
chr22:40697377	genomic	.,.,.
chr22:40697377	codon	.,.,.
chr22:40697377	protein	.,.,.
chr22:40697377	worst	intronic
chr22:40697377	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40697377	nvar	1
chr22:40697377	var	chr22:40697377:A/G
chr22:40708679	allele_ref	T
chr22:40708679	allele_alt	C
chr22:40708679	seqdb_ref	T
chr22:40708679	snp_fw_seq3	ATA/ACA
chr22:40708679	snp_rv_seq3	TAT/TGT
chr22:40708679	func	intronic,intronic,intronic
chr22:40708679	transcript	NM_001024843,NM_001162501,NM_015088
chr22:40708679	genomic	.,.,.
chr22:40708679	codon	.,.,.
chr22:40708679	protein	.,.,.
chr22:40708679	worst	intronic
chr22:40708679	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40708679	nvar	1
chr22:40708679	var	chr22:40708679:T/C
chr22:40749073	allele_ref	G
chr22:40749073	allele_alt	A
chr22:40749073	seqdb_ref	G
chr22:40749073	snp_fw_seq3	CGT/CAT
chr22:40749073	snp_rv_seq3	ACG/ATG
chr22:40749073	func	intronic,splice,intronic,splice
chr22:40749073	annot_details	DIST=-4,NMD=0,OFPTV=1,EXIN=3,ISEQ=TCGTAG,ESEQ=GACTTG,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS3+-4G>A,DIST=-4,NMD=0,OFPTV=1,EXIN=3,ISEQ=TCGTAG,ESEQ=GACTTG,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS3+-4G>A
chr22:40749073	transcript	NM_000026,NM_000026,NM_001123378,NM_001123378
chr22:40749073	genomic	.,.,.,.
chr22:40749073	codon	.,.,.,.
chr22:40749073	protein	.,.,.,.
chr22:40749073	worst	splice
chr22:40749073	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40749073	nvar	1
chr22:40749073	var	chr22:40749073:G/A
chr22:40750289	allele_ref	A
chr22:40750289	allele_alt	T
chr22:40750289	seqdb_ref	A
chr22:40750289	snp_fw_seq3	AAG/ATG
chr22:40750289	snp_rv_seq3	CTT/CAT
chr22:40750289	func	missense,missense
chr22:40750289	transcript	NM_000026,NM_001123378
chr22:40750289	genomic	g.440A>T,g.440A>T
chr22:40750289	codon	c.440AAG>ATG,c.440AAG>ATG
chr22:40750289	protein	p.147K>M,p.147K>M
chr22:40750289	worst	missense
chr22:40750289	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40750289	nvar	1
chr22:40750289	var	chr22:40750289:A/T
chr22:40755001	allele_ref	G
chr22:40755001	allele_alt	T
chr22:40755001	seqdb_ref	G
chr22:40755001	snp_fw_seq3	GGC/GTC
chr22:40755001	snp_rv_seq3	GCC/GAC
chr22:40755001	func	missense,missense
chr22:40755001	transcript	NM_000026,NM_001123378
chr22:40755001	genomic	g.616G>T,g.616G>T
chr22:40755001	codon	c.616GCC>TCC,c.616GCC>TCC
chr22:40755001	protein	p.206A>S,p.206A>S
chr22:40755001	worst	missense
chr22:40755001	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40755001	nvar	1
chr22:40755001	var	chr22:40755001:G/T
chr22:40755222	allele_ref	G
chr22:40755222	allele_alt	C
chr22:40755222	seqdb_ref	G
chr22:40755222	snp_fw_seq3	TGG/TCG
chr22:40755222	snp_rv_seq3	CCA/CGA
chr22:40755222	func	intronic,intronic
chr22:40755222	transcript	NM_000026,NM_001123378
chr22:40755222	genomic	.,.
chr22:40755222	codon	.,.
chr22:40755222	protein	.,.
chr22:40755222	worst	intronic
chr22:40755222	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40755222	nvar	1
chr22:40755222	var	chr22:40755222:G/C
chr22:40760241	allele_ref	G
chr22:40760241	allele_alt	C
chr22:40760241	seqdb_ref	G
chr22:40760241	snp_fw_seq3	AGG/ACG
chr22:40760241	snp_rv_seq3	CCT/CGT
chr22:40760241	func	intronic,intronic
chr22:40760241	transcript	NM_000026,NM_001123378
chr22:40760241	genomic	.,.
chr22:40760241	codon	.,.
chr22:40760241	protein	.,.
chr22:40760241	worst	intronic
chr22:40760241	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40760241	nvar	1
chr22:40760241	var	chr22:40760241:G/C
chr22:40800385	allele_ref	G
chr22:40800385	allele_alt	A
chr22:40800385	seqdb_ref	G
chr22:40800385	snp_fw_seq3	TGC/TAC
chr22:40800385	snp_rv_seq3	GCA/GTA
chr22:40800385	func	missense
chr22:40800385	transcript	NM_015705
chr22:40800385	genomic	g.292G>A
chr22:40800385	codon	c.292GCC>ACC
chr22:40800385	protein	p.98A>T
chr22:40800385	worst	missense
chr22:40800385	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40800385	nvar	1
chr22:40800385	var	chr22:40800385:G/A
chr22:40800518	allele_ref	G
chr22:40800518	allele_alt	A
chr22:40800518	seqdb_ref	G
chr22:40800518	snp_fw_seq3	TGT/TAT
chr22:40800518	snp_rv_seq3	ACA/ATA
chr22:40800518	func	intronic
chr22:40800518	transcript	NM_015705
chr22:40800518	genomic	.
chr22:40800518	codon	.
chr22:40800518	protein	.
chr22:40800518	worst	intronic
chr22:40800518	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40800518	nvar	1
chr22:40800518	var	chr22:40800518:G/A
chr22:40800522	allele_ref	C
chr22:40800522	allele_alt	T
chr22:40800522	seqdb_ref	C
chr22:40800522	snp_fw_seq3	ACG/ATG
chr22:40800522	snp_rv_seq3	CGT/CAT
chr22:40800522	func	intronic
chr22:40800522	transcript	NM_015705
chr22:40800522	genomic	.
chr22:40800522	codon	.
chr22:40800522	protein	.
chr22:40800522	worst	intronic
chr22:40800522	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40800522	nvar	1
chr22:40800522	var	chr22:40800522:C/T
chr22:40800544	allele_ref	C
chr22:40800544	allele_alt	T
chr22:40800544	seqdb_ref	C
chr22:40800544	snp_fw_seq3	GCG/GTG
chr22:40800544	snp_rv_seq3	CGC/CAC
chr22:40800544	func	intronic
chr22:40800544	transcript	NM_015705
chr22:40800544	genomic	.
chr22:40800544	codon	.
chr22:40800544	protein	.
chr22:40800544	worst	intronic
chr22:40800544	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40800544	nvar	1
chr22:40800544	var	chr22:40800544:C/T
chr22:40801312	allele_ref	A
chr22:40801312	allele_alt	G
chr22:40801312	seqdb_ref	A
chr22:40801312	snp_fw_seq3	CAG/CGG
chr22:40801312	snp_rv_seq3	CTG/CCG
chr22:40801312	func	intronic
chr22:40801312	transcript	NM_015705
chr22:40801312	genomic	.
chr22:40801312	codon	.
chr22:40801312	protein	.
chr22:40801312	worst	intronic
chr22:40801312	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40801312	nvar	1
chr22:40801312	var	chr22:40801312:A/G
chr22:40801604	allele_ref	T
chr22:40801604	allele_alt	A
chr22:40801604	seqdb_ref	t
chr22:40801604	snp_fw_seq3	atc/aAc
chr22:40801604	snp_rv_seq3	gat/gTt
chr22:40801604	func	intronic
chr22:40801604	transcript	NM_015705
chr22:40801604	genomic	.
chr22:40801604	codon	.
chr22:40801604	protein	.
chr22:40801604	worst	intronic
chr22:40801604	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40801604	nvar	1
chr22:40801604	var	chr22:40801604:T/A
chr22:40803112	allele_ref	C
chr22:40803112	allele_alt	T
chr22:40803112	seqdb_ref	C
chr22:40803112	snp_fw_seq3	GCG/GTG
chr22:40803112	snp_rv_seq3	CGC/CAC
chr22:40803112	func	intronic
chr22:40803112	transcript	NM_015705
chr22:40803112	genomic	.
chr22:40803112	codon	.
chr22:40803112	protein	.
chr22:40803112	worst	intronic
chr22:40803112	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40803112	nvar	1
chr22:40803112	var	chr22:40803112:C/T
chr22:40803186	allele_ref	G
chr22:40803186	allele_alt	T
chr22:40803186	seqdb_ref	G
chr22:40803186	snp_fw_seq3	TGG/TTG
chr22:40803186	snp_rv_seq3	CCA/CAA
chr22:40803186	func	intronic
chr22:40803186	transcript	NM_015705
chr22:40803186	genomic	.
chr22:40803186	codon	.
chr22:40803186	protein	.
chr22:40803186	worst	intronic
chr22:40803186	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40803186	nvar	1
chr22:40803186	var	chr22:40803186:G/T
chr22:40803584	allele_ref	C
chr22:40803584	allele_alt	T
chr22:40803584	seqdb_ref	C
chr22:40803584	snp_fw_seq3	GCG/GTG
chr22:40803584	snp_rv_seq3	CGC/CAC
chr22:40803584	func	intronic
chr22:40803584	transcript	NM_015705
chr22:40803584	genomic	.
chr22:40803584	codon	.
chr22:40803584	protein	.
chr22:40803584	worst	intronic
chr22:40803584	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40803584	nvar	1
chr22:40803584	var	chr22:40803584:C/T
chr22:40804168	allele_ref	C
chr22:40804168	allele_alt	T
chr22:40804168	seqdb_ref	C
chr22:40804168	snp_fw_seq3	GCC/GTC
chr22:40804168	snp_rv_seq3	GGC/GAC
chr22:40804168	func	intronic
chr22:40804168	transcript	NM_015705
chr22:40804168	genomic	.
chr22:40804168	codon	.
chr22:40804168	protein	.
chr22:40804168	worst	intronic
chr22:40804168	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40804168	nvar	1
chr22:40804168	var	chr22:40804168:C/T
chr22:40804412	allele_ref	C
chr22:40804412	allele_alt	T
chr22:40804412	seqdb_ref	C
chr22:40804412	snp_fw_seq3	ACC/ATC
chr22:40804412	snp_rv_seq3	GGT/GAT
chr22:40804412	func	silent
chr22:40804412	transcript	NM_015705
chr22:40804412	genomic	.
chr22:40804412	codon	.
chr22:40804412	protein	.
chr22:40804412	worst	silent
chr22:40804412	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40804412	nvar	1
chr22:40804412	var	chr22:40804412:C/T
chr22:40804597	allele_ref	G
chr22:40804597	allele_alt	A
chr22:40804597	seqdb_ref	G
chr22:40804597	snp_fw_seq3	TGT/TAT
chr22:40804597	snp_rv_seq3	ACA/ATA
chr22:40804597	func	intronic
chr22:40804597	transcript	NM_015705
chr22:40804597	genomic	.
chr22:40804597	codon	.
chr22:40804597	protein	.
chr22:40804597	worst	intronic
chr22:40804597	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40804597	nvar	1
chr22:40804597	var	chr22:40804597:G/A
chr22:40804825	allele_ref	C
chr22:40804825	allele_alt	A
chr22:40804825	seqdb_ref	C
chr22:40804825	snp_fw_seq3	CCC/CAC
chr22:40804825	snp_rv_seq3	GGG/GTG
chr22:40804825	func	silent
chr22:40804825	transcript	NM_015705
chr22:40804825	genomic	.
chr22:40804825	codon	.
chr22:40804825	protein	.
chr22:40804825	worst	silent
chr22:40804825	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40804825	nvar	1
chr22:40804825	var	chr22:40804825:C/A
chr22:40804932	allele_ref	C
chr22:40804932	allele_alt	A
chr22:40804932	seqdb_ref	C
chr22:40804932	snp_fw_seq3	TCC/TAC
chr22:40804932	snp_rv_seq3	GGA/GTA
chr22:40804932	func	intronic,splice
chr22:40804932	annot_details	DIST=-5,NMD=0,OFPTV=0,EXIN=19,ISEQ=TCCCAG,ESEQ=GCTGTG,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS19+-5C>A
chr22:40804932	transcript	NM_015705,NM_015705
chr22:40804932	genomic	.,.
chr22:40804932	codon	.,.
chr22:40804932	protein	.,.
chr22:40804932	worst	splice
chr22:40804932	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40804932	nvar	1
chr22:40804932	var	chr22:40804932:C/A
chr22:40805448	allele_ref	C
chr22:40805448	allele_alt	G
chr22:40805448	seqdb_ref	C
chr22:40805448	snp_fw_seq3	ACC/AGC
chr22:40805448	snp_rv_seq3	GGT/GCT
chr22:40805448	func	intronic
chr22:40805448	transcript	NM_015705
chr22:40805448	genomic	.
chr22:40805448	codon	.
chr22:40805448	protein	.
chr22:40805448	worst	intronic
chr22:40805448	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40805448	nvar	1
chr22:40805448	var	chr22:40805448:C/G
chr22:40805520	allele_ref	G
chr22:40805520	allele_alt	A
chr22:40805520	seqdb_ref	G
chr22:40805520	snp_fw_seq3	CGA/CAA
chr22:40805520	snp_rv_seq3	TCG/TTG
chr22:40805520	func	silent
chr22:40805520	transcript	NM_015705
chr22:40805520	genomic	.
chr22:40805520	codon	.
chr22:40805520	protein	.
chr22:40805520	worst	silent
chr22:40805520	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40805520	nvar	1
chr22:40805520	var	chr22:40805520:G/A
chr22:40805799	allele_ref	T
chr22:40805799	allele_alt	G
chr22:40805799	seqdb_ref	T
chr22:40805799	snp_fw_seq3	CTG/CGG
chr22:40805799	snp_rv_seq3	CAG/CCG
chr22:40805799	func	3-UTR
chr22:40805799	transcript	NM_015705
chr22:40805799	genomic	.
chr22:40805799	codon	.
chr22:40805799	protein	.
chr22:40805799	worst	UTR3
chr22:40805799	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:40805799	nvar	1
chr22:40805799	var	chr22:40805799:T/G
chr22:40807391	allele_ref	G
chr22:40807391	allele_alt	C
chr22:40807391	seqdb_ref	G
chr22:40807391	snp_fw_seq3	AGA/ACA
chr22:40807391	snp_rv_seq3	TCT/TGT
chr22:40807391	func	3-UTR
chr22:40807391	transcript	NM_020831
chr22:40807391	genomic	.
chr22:40807391	codon	.
chr22:40807391	protein	.
chr22:40807391	worst	UTR3
chr22:40807391	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:40807391	nvar	1
chr22:40807391	var	chr22:40807391:G/C
chr22:40807936	allele_ref	T
chr22:40807936	allele_alt	C
chr22:40807936	seqdb_ref	T
chr22:40807936	snp_fw_seq3	ATG/ACG
chr22:40807936	snp_rv_seq3	CAT/CGT
chr22:40807936	func	intronic
chr22:40807936	transcript	NM_020831
chr22:40807936	genomic	.
chr22:40807936	codon	.
chr22:40807936	protein	.
chr22:40807936	worst	intronic
chr22:40807936	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40807936	nvar	1
chr22:40807936	var	chr22:40807936:T/C
chr22:40814356	allele_ref	G
chr22:40814356	allele_alt	A
chr22:40814356	seqdb_ref	G
chr22:40814356	snp_fw_seq3	CGG/CAG
chr22:40814356	snp_rv_seq3	CCG/CTG
chr22:40814356	func	intronic
chr22:40814356	transcript	NM_020831
chr22:40814356	genomic	.
chr22:40814356	codon	.
chr22:40814356	protein	.
chr22:40814356	worst	intronic
chr22:40814356	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40814356	nvar	1
chr22:40814356	var	chr22:40814356:G/A
chr22:40814500	allele_ref	T
chr22:40814500	allele_alt	C
chr22:40814500	seqdb_ref	T
chr22:40814500	snp_fw_seq3	CTG/CCG
chr22:40814500	snp_rv_seq3	CAG/CGG
chr22:40814500	func	missense
chr22:40814500	transcript	NM_020831
chr22:40814500	genomic	g.1942T>C
chr22:40814500	codon	c.1942AGC>GGC
chr22:40814500	protein	p.648S>G
chr22:40814500	worst	missense
chr22:40814500	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40814500	nvar	1
chr22:40814500	var	chr22:40814500:T/C
chr22:40814533	allele_ref	C
chr22:40814533	allele_alt	T
chr22:40814533	seqdb_ref	C
chr22:40814533	snp_fw_seq3	GCG/GTG
chr22:40814533	snp_rv_seq3	CGC/CAC
chr22:40814533	func	missense
chr22:40814533	transcript	NM_020831
chr22:40814533	genomic	g.1909C>T
chr22:40814533	codon	c.1909GCC>ACC
chr22:40814533	protein	p.637A>T
chr22:40814533	worst	missense
chr22:40814533	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40814533	nvar	1
chr22:40814533	var	chr22:40814533:C/T
chr22:40814542	allele_ref	G
chr22:40814542	allele_alt	A
chr22:40814542	seqdb_ref	G
chr22:40814542	snp_fw_seq3	GGC/GAC
chr22:40814542	snp_rv_seq3	GCC/GTC
chr22:40814542	func	missense
chr22:40814542	transcript	NM_020831
chr22:40814542	genomic	g.1900G>A
chr22:40814542	codon	c.1900CCG>TCG
chr22:40814542	protein	p.634P>S
chr22:40814542	worst	missense
chr22:40814542	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40814542	nvar	1
chr22:40814542	var	chr22:40814542:G/A
chr22:40814594	allele_ref	C
chr22:40814594	allele_alt	T
chr22:40814594	seqdb_ref	C
chr22:40814594	snp_fw_seq3	CCG/CTG
chr22:40814594	snp_rv_seq3	CGG/CAG
chr22:40814594	func	silent
chr22:40814594	transcript	NM_020831
chr22:40814594	genomic	.
chr22:40814594	codon	.
chr22:40814594	protein	.
chr22:40814594	worst	silent
chr22:40814594	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40814594	nvar	1
chr22:40814594	var	chr22:40814594:C/T
chr22:40814636	allele_ref	C
chr22:40814636	allele_alt	T
chr22:40814636	seqdb_ref	C
chr22:40814636	snp_fw_seq3	CCG/CTG
chr22:40814636	snp_rv_seq3	CGG/CAG
chr22:40814636	func	silent
chr22:40814636	transcript	NM_020831
chr22:40814636	genomic	.
chr22:40814636	codon	.
chr22:40814636	protein	.
chr22:40814636	worst	silent
chr22:40814636	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40814636	nvar	1
chr22:40814636	var	chr22:40814636:C/T
chr22:40814662	allele_ref	C
chr22:40814662	allele_alt	T
chr22:40814662	seqdb_ref	C
chr22:40814662	snp_fw_seq3	GCG/GTG
chr22:40814662	snp_rv_seq3	CGC/CAC
chr22:40814662	func	missense
chr22:40814662	transcript	NM_020831
chr22:40814662	genomic	g.1780C>T
chr22:40814662	codon	c.1780GCT>ACT
chr22:40814662	protein	p.594A>T
chr22:40814662	worst	missense
chr22:40814662	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40814662	nvar	1
chr22:40814662	var	chr22:40814662:C/T
chr22:40814737	allele_ref	C
chr22:40814737	allele_alt	T
chr22:40814737	seqdb_ref	c
chr22:40814737	snp_fw_seq3	gcg/gTg
chr22:40814737	snp_rv_seq3	cgc/cAc
chr22:40814737	func	missense
chr22:40814737	transcript	NM_020831
chr22:40814737	genomic	g.1705C>T
chr22:40814737	codon	c.1705GCC>ACC
chr22:40814737	protein	p.569A>T
chr22:40814737	worst	missense
chr22:40814737	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40814737	nvar	1
chr22:40814737	var	chr22:40814737:C/T
chr22:40814988	allele_ref	G
chr22:40814988	allele_alt	A
chr22:40814988	seqdb_ref	G
chr22:40814988	snp_fw_seq3	CGT/CAT
chr22:40814988	snp_rv_seq3	ACG/ATG
chr22:40814988	func	missense
chr22:40814988	transcript	NM_020831
chr22:40814988	genomic	g.1454G>A
chr22:40814988	codon	c.1454ACG>ATG
chr22:40814988	protein	p.485T>M
chr22:40814988	worst	missense
chr22:40814988	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40814988	nvar	1
chr22:40814988	var	chr22:40814988:G/A
chr22:40815089	allele_ref	G
chr22:40815089	allele_alt	C
chr22:40815089	seqdb_ref	G
chr22:40815089	snp_fw_seq3	GGG/GCG
chr22:40815089	snp_rv_seq3	CCC/CGC
chr22:40815089	func	silent
chr22:40815089	transcript	NM_020831
chr22:40815089	genomic	.
chr22:40815089	codon	.
chr22:40815089	protein	.
chr22:40815089	worst	silent
chr22:40815089	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40815089	nvar	1
chr22:40815089	var	chr22:40815089:G/C
chr22:40815256	allele_ref	C
chr22:40815256	allele_alt	T
chr22:40815256	seqdb_ref	C
chr22:40815256	snp_fw_seq3	GCG/GTG
chr22:40815256	snp_rv_seq3	CGC/CAC
chr22:40815256	func	missense
chr22:40815256	transcript	NM_020831
chr22:40815256	genomic	g.1186C>T
chr22:40815256	codon	c.1186GCC>ACC
chr22:40815256	protein	p.396A>T
chr22:40815256	worst	missense
chr22:40815256	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40815256	nvar	1
chr22:40815256	var	chr22:40815256:C/T
chr22:40817154	allele_ref	C
chr22:40817154	allele_alt	T
chr22:40817154	seqdb_ref	C
chr22:40817154	snp_fw_seq3	TCG/TTG
chr22:40817154	snp_rv_seq3	CGA/CAA
chr22:40817154	func	intronic
chr22:40817154	transcript	NM_020831
chr22:40817154	genomic	.
chr22:40817154	codon	.
chr22:40817154	protein	.
chr22:40817154	worst	intronic
chr22:40817154	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40817154	nvar	1
chr22:40817154	var	chr22:40817154:C/T
chr22:40819629	allele_ref	G
chr22:40819629	allele_alt	C
chr22:40819629	seqdb_ref	G
chr22:40819629	snp_fw_seq3	GGC/GCC
chr22:40819629	snp_rv_seq3	GCC/GGC
chr22:40819629	func	missense
chr22:40819629	transcript	NM_020831
chr22:40819629	genomic	g.538G>C
chr22:40819629	codon	c.538CCT>GCT
chr22:40819629	protein	p.180P>A
chr22:40819629	worst	missense
chr22:40819629	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40819629	nvar	1
chr22:40819629	var	chr22:40819629:G/C
chr22:40825814	allele_ref	G
chr22:40825814	allele_alt	A
chr22:40825814	seqdb_ref	G
chr22:40825814	snp_fw_seq3	GGA/GAA
chr22:40825814	snp_rv_seq3	TCC/TTC
chr22:40825814	func	intronic
chr22:40825814	transcript	NM_020831
chr22:40825814	genomic	.
chr22:40825814	codon	.
chr22:40825814	protein	.
chr22:40825814	worst	intronic
chr22:40825814	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40825814	nvar	1
chr22:40825814	var	chr22:40825814:G/A
chr22:40831478	allele_ref	C
chr22:40831478	allele_alt	T
chr22:40831478	seqdb_ref	C
chr22:40831478	snp_fw_seq3	TCT/TTT
chr22:40831478	snp_rv_seq3	AGA/AAA
chr22:40831478	func	intronic
chr22:40831478	transcript	NM_020831
chr22:40831478	genomic	.
chr22:40831478	codon	.
chr22:40831478	protein	.
chr22:40831478	worst	intronic
chr22:40831478	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:40831478	nvar	1
chr22:40831478	var	chr22:40831478:C/T
chr22:41075532	allele_ref	A
chr22:41075532	allele_alt	T
chr22:41075532	seqdb_ref	A
chr22:41075532	snp_fw_seq3	GAC/GTC
chr22:41075532	snp_rv_seq3	GTC/GAC
chr22:41075532	func	missense
chr22:41075532	transcript	NM_005297
chr22:41075532	genomic	g.83A>T
chr22:41075532	codon	c.83GAC>GTC
chr22:41075532	protein	p.28D>V
chr22:41075532	worst	missense
chr22:41075532	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41075532	nvar	1
chr22:41075532	var	chr22:41075532:A/T
chr22:41075543	allele_ref	A
chr22:41075543	allele_alt	G
chr22:41075543	seqdb_ref	A
chr22:41075543	snp_fw_seq3	CAA/CGA
chr22:41075543	snp_rv_seq3	TTG/TCG
chr22:41075543	func	missense
chr22:41075543	transcript	NM_005297
chr22:41075543	genomic	g.94A>G
chr22:41075543	codon	c.94AAC>GAC
chr22:41075543	protein	p.32N>D
chr22:41075543	worst	missense
chr22:41075543	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41075543	nvar	1
chr22:41075543	var	chr22:41075543:A/G
chr22:41075695	allele_ref	C
chr22:41075695	allele_alt	T
chr22:41075695	seqdb_ref	C
chr22:41075695	snp_fw_seq3	ACG/ATG
chr22:41075695	snp_rv_seq3	CGT/CAT
chr22:41075695	func	silent
chr22:41075695	transcript	NM_005297
chr22:41075695	genomic	.
chr22:41075695	codon	.
chr22:41075695	protein	.
chr22:41075695	worst	silent
chr22:41075695	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41075695	nvar	1
chr22:41075695	var	chr22:41075695:C/T
chr22:41076970	allele_ref	G
chr22:41076970	allele_alt	A
chr22:41076970	seqdb_ref	G
chr22:41076970	snp_fw_seq3	GGG/GAG
chr22:41076970	snp_rv_seq3	CCC/CTC
chr22:41076970	func	missense
chr22:41076970	transcript	NM_005297
chr22:41076970	genomic	g.307G>A
chr22:41076970	codon	c.307GGG>AGG
chr22:41076970	protein	p.103G>R
chr22:41076970	worst	missense
chr22:41076970	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41076970	nvar	1
chr22:41076970	var	chr22:41076970:G/A
chr22:41077549	allele_ref	G
chr22:41077549	allele_alt	A
chr22:41077549	seqdb_ref	G
chr22:41077549	snp_fw_seq3	CGC/CAC
chr22:41077549	snp_rv_seq3	GCG/GTG
chr22:41077549	func	missense
chr22:41077549	transcript	NM_005297
chr22:41077549	genomic	g.886G>A
chr22:41077549	codon	c.886GCA>ACA
chr22:41077549	protein	p.296A>T
chr22:41077549	worst	missense
chr22:41077549	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41077549	nvar	1
chr22:41077549	var	chr22:41077549:G/A
chr22:41077734	allele_ref	C
chr22:41077734	allele_alt	T
chr22:41077734	seqdb_ref	C
chr22:41077734	snp_fw_seq3	CCT/CTT
chr22:41077734	snp_rv_seq3	AGG/AAG
chr22:41077734	func	silent
chr22:41077734	transcript	NM_005297
chr22:41077734	genomic	.
chr22:41077734	codon	.
chr22:41077734	protein	.
chr22:41077734	worst	silent
chr22:41077734	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41077734	nvar	1
chr22:41077734	var	chr22:41077734:C/T
chr22:41170063	allele_ref	T
chr22:41170063	allele_alt	C
chr22:41170063	seqdb_ref	T
chr22:41170063	snp_fw_seq3	GTT/GCT
chr22:41170063	snp_rv_seq3	AAC/AGC
chr22:41170063	func	intronic
chr22:41170063	transcript	NM_006358
chr22:41170063	genomic	.
chr22:41170063	codon	.
chr22:41170063	protein	.
chr22:41170063	worst	intronic
chr22:41170063	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41170063	nvar	1
chr22:41170063	var	chr22:41170063:T/C
chr22:41173002	allele_ref	G
chr22:41173002	allele_alt	A
chr22:41173002	seqdb_ref	G
chr22:41173002	snp_fw_seq3	CGA/CAA
chr22:41173002	snp_rv_seq3	TCG/TTG
chr22:41173002	func	intronic
chr22:41173002	transcript	NM_006358
chr22:41173002	genomic	.
chr22:41173002	codon	.
chr22:41173002	protein	.
chr22:41173002	worst	intronic
chr22:41173002	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41173002	nvar	1
chr22:41173002	var	chr22:41173002:G/A
chr22:41175065	allele_ref	T
chr22:41175065	allele_alt	C
chr22:41175065	seqdb_ref	T
chr22:41175065	snp_fw_seq3	CTC/CCC
chr22:41175065	snp_rv_seq3	GAG/GGG
chr22:41175065	func	silent
chr22:41175065	transcript	NM_006358
chr22:41175065	genomic	.
chr22:41175065	codon	.
chr22:41175065	protein	.
chr22:41175065	worst	silent
chr22:41175065	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41175065	nvar	1
chr22:41175065	var	chr22:41175065:T/C
chr22:41188570	allele_ref	T
chr22:41188570	allele_alt	C
chr22:41188570	seqdb_ref	t
chr22:41188570	snp_fw_seq3	atg/aCg
chr22:41188570	snp_rv_seq3	cat/cGt
chr22:41188570	func	missense
chr22:41188570	transcript	NM_006358
chr22:41188570	genomic	g.293T>C
chr22:41188570	codon	c.293CAT>CGT
chr22:41188570	protein	p.98H>R
chr22:41188570	worst	missense
chr22:41188570	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41188570	nvar	1
chr22:41188570	var	chr22:41188570:T/C
chr22:41215183	allele_ref	A
chr22:41215183	allele_alt	G
chr22:41215183	seqdb_ref	A
chr22:41215183	snp_fw_seq3	TAA/TGA
chr22:41215183	snp_rv_seq3	TTA/TCA
chr22:41215183	func	intronic
chr22:41215183	transcript	NM_006358
chr22:41215183	genomic	.
chr22:41215183	codon	.
chr22:41215183	protein	.
chr22:41215183	worst	intronic
chr22:41215183	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41215183	nvar	1
chr22:41215183	var	chr22:41215183:A/G
chr22:41223206	allele_ref	T
chr22:41223206	allele_alt	C
chr22:41223206	seqdb_ref	T
chr22:41223206	snp_fw_seq3	ATT/ACT
chr22:41223206	snp_rv_seq3	AAT/AGT
chr22:41223206	func	missense
chr22:41223206	transcript	NM_003932
chr22:41223206	genomic	g.875T>C
chr22:41223206	codon	c.875AAT>AGT
chr22:41223206	protein	p.292N>S
chr22:41223206	worst	missense
chr22:41223206	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41223206	nvar	1
chr22:41223206	var	chr22:41223206:T/C
chr22:41226815	allele_ref	C
chr22:41226815	allele_alt	G
chr22:41226815	seqdb_ref	C
chr22:41226815	snp_fw_seq3	CCT/CGT
chr22:41226815	snp_rv_seq3	AGG/ACG
chr22:41226815	func	intronic
chr22:41226815	transcript	NM_003932
chr22:41226815	genomic	.
chr22:41226815	codon	.
chr22:41226815	protein	.
chr22:41226815	worst	intronic
chr22:41226815	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41226815	nvar	1
chr22:41226815	var	chr22:41226815:C/G
chr22:41240835	allele_ref	G
chr22:41240835	allele_alt	A
chr22:41240835	seqdb_ref	G
chr22:41240835	snp_fw_seq3	CGA/CAA
chr22:41240835	snp_rv_seq3	TCG/TTG
chr22:41240835	func	intronic
chr22:41240835	transcript	NM_003932
chr22:41240835	genomic	.
chr22:41240835	codon	.
chr22:41240835	protein	.
chr22:41240835	worst	intronic
chr22:41240835	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41240835	nvar	1
chr22:41240835	var	chr22:41240835:G/A
chr22:41240909	allele_ref	A
chr22:41240909	allele_alt	C
chr22:41240909	seqdb_ref	A
chr22:41240909	snp_fw_seq3	CAA/CCA
chr22:41240909	snp_rv_seq3	TTG/TGG
chr22:41240909	func	splice,missense
chr22:41240909	annot_details	DIST=-4,NMD=0,OFPTV=1,EXIN=4,ISEQ=GACGGT,ESEQ=GTTAAA,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS4+-4T>G
chr22:41240909	transcript	NM_003932,NM_003932
chr22:41240909	genomic	.,g.249A>C
chr22:41240909	codon	.,c.249ATT>ATG
chr22:41240909	protein	.,p.83I>M
chr22:41240909	worst	missense
chr22:41240909	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41240909	nvar	1
chr22:41240909	var	chr22:41240909:A/C
chr22:41244257	allele_ref	A
chr22:41244257	allele_alt	G
chr22:41244257	seqdb_ref	A
chr22:41244257	snp_fw_seq3	CAT/CGT
chr22:41244257	snp_rv_seq3	ATG/ACG
chr22:41244257	func	intronic
chr22:41244257	transcript	NM_003932
chr22:41244257	genomic	.
chr22:41244257	codon	.
chr22:41244257	protein	.
chr22:41244257	worst	intronic
chr22:41244257	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41244257	nvar	1
chr22:41244257	var	chr22:41244257:A/G
chr22:41244398	allele_ref	C
chr22:41244398	allele_alt	G
chr22:41244398	seqdb_ref	C
chr22:41244398	snp_fw_seq3	ACT/AGT
chr22:41244398	snp_rv_seq3	AGT/ACT
chr22:41244398	func	intronic
chr22:41244398	transcript	NM_003932
chr22:41244398	genomic	.
chr22:41244398	codon	.
chr22:41244398	protein	.
chr22:41244398	worst	intronic
chr22:41244398	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41244398	nvar	1
chr22:41244398	var	chr22:41244398:C/G
chr22:41246782	allele_ref	T
chr22:41246782	allele_alt	G
chr22:41246782	seqdb_ref	T
chr22:41246782	snp_fw_seq3	CTT/CGT
chr22:41246782	snp_rv_seq3	AAG/ACG
chr22:41246782	func	intronic
chr22:41246782	transcript	NM_003932
chr22:41246782	genomic	.
chr22:41246782	codon	.
chr22:41246782	protein	.
chr22:41246782	worst	intronic
chr22:41246782	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41246782	nvar	1
chr22:41246782	var	chr22:41246782:T/G
chr22:41246855	allele_ref	T
chr22:41246855	allele_alt	C
chr22:41246855	seqdb_ref	T
chr22:41246855	snp_fw_seq3	CTG/CCG
chr22:41246855	snp_rv_seq3	CAG/CGG
chr22:41246855	func	missense
chr22:41246855	transcript	NM_003932
chr22:41246855	genomic	g.140T>C
chr22:41246855	codon	c.140CAG>CGG
chr22:41246855	protein	p.47Q>R
chr22:41246855	worst	missense
chr22:41246855	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41246855	nvar	1
chr22:41246855	var	chr22:41246855:T/C
chr22:41257051	allele_ref	T
chr22:41257051	allele_alt	C
chr22:41257051	seqdb_ref	T
chr22:41257051	snp_fw_seq3	ATA/ACA
chr22:41257051	snp_rv_seq3	TAT/TGT
chr22:41257051	func	intronic,intronic,3-UTR
chr22:41257051	transcript	NM_001204827,NM_022098,NM_145174
chr22:41257051	genomic	.,.,.
chr22:41257051	codon	.,.,.
chr22:41257051	protein	.,.,.
chr22:41257051	worst	UTR3
chr22:41257051	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:41257051	nvar	1
chr22:41257051	var	chr22:41257051:T/C
chr22:41257620	allele_ref	A
chr22:41257620	allele_alt	C
chr22:41257620	seqdb_ref	A
chr22:41257620	snp_fw_seq3	TAG/TCG
chr22:41257620	snp_rv_seq3	CTA/CGA
chr22:41257620	func	intronic,splice-acceptor-in2,intronic,missense
chr22:41257620	annot_details	DIST=-2,NMD=0,OFPTV=1,EXIN=3,ISEQ=CCATAG,ESEQ=GAGCTT,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS3+-2A>C
chr22:41257620	transcript	NM_001204827,NM_001204827,NM_022098,NM_145174
chr22:41257620	genomic	.,.,.,g.379A>C
chr22:41257620	codon	.,.,.,c.379TAT>GAT
chr22:41257620	protein	.,.,.,p.127Y>D
chr22:41257620	worst	esplice
chr22:41257620	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=1,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41257620	nvar	1
chr22:41257620	var	chr22:41257620:A/C
chr22:41257741	allele_ref	G
chr22:41257741	allele_alt	A
chr22:41257741	seqdb_ref	G
chr22:41257741	snp_fw_seq3	CGT/CAT
chr22:41257741	snp_rv_seq3	ACG/ATG
chr22:41257741	func	3-UTR,intronic,silent
chr22:41257741	transcript	NM_001204827,NM_022098,NM_145174
chr22:41257741	genomic	.,.,.
chr22:41257741	codon	.,.,.
chr22:41257741	protein	.,.,.
chr22:41257741	worst	silent
chr22:41257741	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:41257741	nvar	1
chr22:41257741	var	chr22:41257741:G/A
chr22:41265143	allele_ref	C
chr22:41265143	allele_alt	T
chr22:41265143	seqdb_ref	C
chr22:41265143	snp_fw_seq3	TCT/TTT
chr22:41265143	snp_rv_seq3	AGA/AAA
chr22:41265143	func	intronic
chr22:41265143	transcript	NM_022098
chr22:41265143	genomic	.
chr22:41265143	codon	.
chr22:41265143	protein	.
chr22:41265143	worst	intronic
chr22:41265143	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41265143	nvar	1
chr22:41265143	var	chr22:41265143:C/T
chr22:41282308	allele_ref	C
chr22:41282308	allele_alt	T
chr22:41282308	seqdb_ref	C
chr22:41282308	snp_fw_seq3	TCA/TTA
chr22:41282308	snp_rv_seq3	TGA/TAA
chr22:41282308	func	intronic
chr22:41282308	transcript	NM_022098
chr22:41282308	genomic	.
chr22:41282308	codon	.
chr22:41282308	protein	.
chr22:41282308	worst	intronic
chr22:41282308	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41282308	nvar	1
chr22:41282308	var	chr22:41282308:C/T
chr22:41310203	allele_ref	C
chr22:41310203	allele_alt	G
chr22:41310203	seqdb_ref	C
chr22:41310203	snp_fw_seq3	TCA/TGA
chr22:41310203	snp_rv_seq3	TGA/TCA
chr22:41310203	func	intronic
chr22:41310203	transcript	NM_022098
chr22:41310203	genomic	.
chr22:41310203	codon	.
chr22:41310203	protein	.
chr22:41310203	worst	intronic
chr22:41310203	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41310203	nvar	1
chr22:41310203	var	chr22:41310203:C/G
chr22:41310343	allele_ref	G
chr22:41310343	allele_alt	A
chr22:41310343	seqdb_ref	G
chr22:41310343	snp_fw_seq3	AGA/AAA
chr22:41310343	snp_rv_seq3	TCT/TTT
chr22:41310343	func	intronic
chr22:41310343	transcript	NM_022098
chr22:41310343	genomic	.
chr22:41310343	codon	.
chr22:41310343	protein	.
chr22:41310343	worst	intronic
chr22:41310343	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41310343	nvar	1
chr22:41310343	var	chr22:41310343:G/A
chr22:41318329	allele_ref	G
chr22:41318329	allele_alt	A
chr22:41318329	seqdb_ref	G
chr22:41318329	snp_fw_seq3	CGT/CAT
chr22:41318329	snp_rv_seq3	ACG/ATG
chr22:41318329	func	intronic
chr22:41318329	transcript	NM_022098
chr22:41318329	genomic	.
chr22:41318329	codon	.
chr22:41318329	protein	.
chr22:41318329	worst	intronic
chr22:41318329	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41318329	nvar	1
chr22:41318329	var	chr22:41318329:G/A
chr22:41513175	allele_ref	T
chr22:41513175	allele_alt	C
chr22:41513175	seqdb_ref	T
chr22:41513175	snp_fw_seq3	TTT/TCT
chr22:41513175	snp_rv_seq3	AAA/AGA
chr22:41513175	func	intronic
chr22:41513175	transcript	NM_001429
chr22:41513175	genomic	.
chr22:41513175	codon	.
chr22:41513175	protein	.
chr22:41513175	worst	intronic
chr22:41513175	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41513175	nvar	1
chr22:41513175	var	chr22:41513175:T/C
chr22:41513774	allele_ref	C
chr22:41513774	allele_alt	G
chr22:41513774	seqdb_ref	C
chr22:41513774	snp_fw_seq3	GCT/GGT
chr22:41513774	snp_rv_seq3	AGC/ACC
chr22:41513774	func	silent
chr22:41513774	transcript	NM_001429
chr22:41513774	genomic	.
chr22:41513774	codon	.
chr22:41513774	protein	.
chr22:41513774	worst	silent
chr22:41513774	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41513774	nvar	1
chr22:41513774	var	chr22:41513774:C/G
chr22:41521877	allele_ref	A
chr22:41521877	allele_alt	G
chr22:41521877	seqdb_ref	A
chr22:41521877	snp_fw_seq3	GAT/GGT
chr22:41521877	snp_rv_seq3	ATC/ACC
chr22:41521877	func	missense
chr22:41521877	transcript	NM_001429
chr22:41521877	genomic	g.739A>G
chr22:41521877	codon	c.739ATG>GTG
chr22:41521877	protein	p.247M>V
chr22:41521877	worst	missense
chr22:41521877	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41521877	nvar	1
chr22:41521877	var	chr22:41521877:A/G
chr22:41523526	allele_ref	C
chr22:41523526	allele_alt	T
chr22:41523526	seqdb_ref	C
chr22:41523526	snp_fw_seq3	GCC/GTC
chr22:41523526	snp_rv_seq3	GGC/GAC
chr22:41523526	func	silent
chr22:41523526	transcript	NM_001429
chr22:41523526	genomic	.
chr22:41523526	codon	.
chr22:41523526	protein	.
chr22:41523526	worst	silent
chr22:41523526	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41523526	nvar	1
chr22:41523526	var	chr22:41523526:C/T
chr22:41523770	allele_ref	G
chr22:41523770	allele_alt	A
chr22:41523770	seqdb_ref	G
chr22:41523770	snp_fw_seq3	GGT/GAT
chr22:41523770	snp_rv_seq3	ACC/ATC
chr22:41523770	func	intronic
chr22:41523770	transcript	NM_001429
chr22:41523770	genomic	.
chr22:41523770	codon	.
chr22:41523770	protein	.
chr22:41523770	worst	intronic
chr22:41523770	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41523770	nvar	1
chr22:41523770	var	chr22:41523770:G/A
chr22:41527384	allele_ref	T
chr22:41527384	allele_alt	C
chr22:41527384	seqdb_ref	T
chr22:41527384	snp_fw_seq3	CTT/CCT
chr22:41527384	snp_rv_seq3	AAG/AGG
chr22:41527384	func	intronic
chr22:41527384	transcript	NM_001429
chr22:41527384	genomic	.
chr22:41527384	codon	.
chr22:41527384	protein	.
chr22:41527384	worst	intronic
chr22:41527384	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41527384	nvar	1
chr22:41527384	var	chr22:41527384:T/C
chr22:41533720	allele_ref	A
chr22:41533720	allele_alt	C
chr22:41533720	seqdb_ref	A
chr22:41533720	snp_fw_seq3	CAT/CCT
chr22:41533720	snp_rv_seq3	ATG/AGG
chr22:41533720	func	silent
chr22:41533720	transcript	NM_001429
chr22:41533720	genomic	.
chr22:41533720	codon	.
chr22:41533720	protein	.
chr22:41533720	worst	silent
chr22:41533720	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41533720	nvar	1
chr22:41533720	var	chr22:41533720:A/C
chr22:41536270	allele_ref	C
chr22:41536270	allele_alt	G
chr22:41536270	seqdb_ref	C
chr22:41536270	snp_fw_seq3	TCT/TGT
chr22:41536270	snp_rv_seq3	AGA/ACA
chr22:41536270	func	intronic
chr22:41536270	transcript	NM_001429
chr22:41536270	genomic	.
chr22:41536270	codon	.
chr22:41536270	protein	.
chr22:41536270	worst	intronic
chr22:41536270	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41536270	nvar	1
chr22:41536270	var	chr22:41536270:C/G
chr22:41537192	allele_ref	T
chr22:41537192	allele_alt	C
chr22:41537192	seqdb_ref	T
chr22:41537192	snp_fw_seq3	CTA/CCA
chr22:41537192	snp_rv_seq3	TAG/TGG
chr22:41537192	func	silent
chr22:41537192	transcript	NM_001429
chr22:41537192	genomic	.
chr22:41537192	codon	.
chr22:41537192	protein	.
chr22:41537192	worst	silent
chr22:41537192	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41537192	nvar	1
chr22:41537192	var	chr22:41537192:T/C
chr22:41537234	allele_ref	G
chr22:41537234	allele_alt	T
chr22:41537234	seqdb_ref	G
chr22:41537234	snp_fw_seq3	GGT/GTT
chr22:41537234	snp_rv_seq3	ACC/AAC
chr22:41537234	func	intronic
chr22:41537234	transcript	NM_001429
chr22:41537234	genomic	.
chr22:41537234	codon	.
chr22:41537234	protein	.
chr22:41537234	worst	intronic
chr22:41537234	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41537234	nvar	1
chr22:41537234	var	chr22:41537234:G/T
chr22:41537268	allele_ref	A
chr22:41537268	allele_alt	G
chr22:41537268	seqdb_ref	A
chr22:41537268	snp_fw_seq3	TAA/TGA
chr22:41537268	snp_rv_seq3	TTA/TCA
chr22:41537268	func	intronic
chr22:41537268	transcript	NM_001429
chr22:41537268	genomic	.
chr22:41537268	codon	.
chr22:41537268	protein	.
chr22:41537268	worst	intronic
chr22:41537268	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41537268	nvar	1
chr22:41537268	var	chr22:41537268:A/G
chr22:41543796	allele_ref	A
chr22:41543796	allele_alt	G
chr22:41543796	seqdb_ref	A
chr22:41543796	snp_fw_seq3	AAT/AGT
chr22:41543796	snp_rv_seq3	ATT/ACT
chr22:41543796	func	intronic
chr22:41543796	transcript	NM_001429
chr22:41543796	genomic	.
chr22:41543796	codon	.
chr22:41543796	protein	.
chr22:41543796	worst	intronic
chr22:41543796	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41543796	nvar	1
chr22:41543796	var	chr22:41543796:A/G
chr22:41543983	allele_ref	C
chr22:41543983	allele_alt	G
chr22:41543983	seqdb_ref	C
chr22:41543983	snp_fw_seq3	CCT/CGT
chr22:41543983	snp_rv_seq3	AGG/ACG
chr22:41543983	func	intronic
chr22:41543983	transcript	NM_001429
chr22:41543983	genomic	.
chr22:41543983	codon	.
chr22:41543983	protein	.
chr22:41543983	worst	intronic
chr22:41543983	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41543983	nvar	1
chr22:41543983	var	chr22:41543983:C/G
chr22:41545750	allele_ref	T
chr22:41545750	allele_alt	C
chr22:41545750	seqdb_ref	T
chr22:41545750	snp_fw_seq3	TTT/TCT
chr22:41545750	snp_rv_seq3	AAA/AGA
chr22:41545750	func	intronic
chr22:41545750	transcript	NM_001429
chr22:41545750	genomic	.
chr22:41545750	codon	.
chr22:41545750	protein	.
chr22:41545750	worst	intronic
chr22:41545750	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41545750	nvar	1
chr22:41545750	var	chr22:41545750:T/C
chr22:41545884	allele_ref	G
chr22:41545884	allele_alt	A
chr22:41545884	seqdb_ref	G
chr22:41545884	snp_fw_seq3	CGC/CAC
chr22:41545884	snp_rv_seq3	GCG/GTG
chr22:41545884	func	silent
chr22:41545884	transcript	NM_001429
chr22:41545884	genomic	.
chr22:41545884	codon	.
chr22:41545884	protein	.
chr22:41545884	worst	silent
chr22:41545884	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41545884	nvar	1
chr22:41545884	var	chr22:41545884:G/A
chr22:41545905	allele_ref	C
chr22:41545905	allele_alt	T
chr22:41545905	seqdb_ref	C
chr22:41545905	snp_fw_seq3	CCA/CTA
chr22:41545905	snp_rv_seq3	TGG/TAG
chr22:41545905	func	silent
chr22:41545905	transcript	NM_001429
chr22:41545905	genomic	.
chr22:41545905	codon	.
chr22:41545905	protein	.
chr22:41545905	worst	silent
chr22:41545905	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41545905	nvar	1
chr22:41545905	var	chr22:41545905:C/T
chr22:41546056	allele_ref	A
chr22:41546056	allele_alt	C
chr22:41546056	seqdb_ref	A
chr22:41546056	snp_fw_seq3	AAC/ACC
chr22:41546056	snp_rv_seq3	GTT/GGT
chr22:41546056	func	missense
chr22:41546056	transcript	NM_001429
chr22:41546056	genomic	g.2671A>C
chr22:41546056	codon	c.2671ACA>CCA
chr22:41546056	protein	p.891T>P
chr22:41546056	worst	missense
chr22:41546056	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41546056	nvar	1
chr22:41546056	var	chr22:41546056:A/C
chr22:41546131	allele_ref	T
chr22:41546131	allele_alt	A
chr22:41546131	seqdb_ref	T
chr22:41546131	snp_fw_seq3	CTC/CAC
chr22:41546131	snp_rv_seq3	GAG/GTG
chr22:41546131	func	missense
chr22:41546131	transcript	NM_001429
chr22:41546131	genomic	g.2746T>A
chr22:41546131	codon	c.2746TCA>ACA
chr22:41546131	protein	p.916S>T
chr22:41546131	worst	missense
chr22:41546131	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41546131	nvar	1
chr22:41546131	var	chr22:41546131:T/A
chr22:41548198	allele_ref	G
chr22:41548198	allele_alt	A
chr22:41548198	seqdb_ref	G
chr22:41548198	snp_fw_seq3	CGT/CAT
chr22:41548198	snp_rv_seq3	ACG/ATG
chr22:41548198	func	intronic
chr22:41548198	transcript	NM_001429
chr22:41548198	genomic	.
chr22:41548198	codon	.
chr22:41548198	protein	.
chr22:41548198	worst	intronic
chr22:41548198	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41548198	nvar	1
chr22:41548198	var	chr22:41548198:G/A
chr22:41548275	allele_ref	T
chr22:41548275	allele_alt	C
chr22:41548275	seqdb_ref	T
chr22:41548275	snp_fw_seq3	CTG/CCG
chr22:41548275	snp_rv_seq3	CAG/CGG
chr22:41548275	func	silent
chr22:41548275	transcript	NM_001429
chr22:41548275	genomic	.
chr22:41548275	codon	.
chr22:41548275	protein	.
chr22:41548275	worst	silent
chr22:41548275	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41548275	nvar	1
chr22:41548275	var	chr22:41548275:T/C
chr22:41550954	allele_ref	C
chr22:41550954	allele_alt	T
chr22:41550954	seqdb_ref	C
chr22:41550954	snp_fw_seq3	TCT/TTT
chr22:41550954	snp_rv_seq3	AGA/AAA
chr22:41550954	func	intronic
chr22:41550954	transcript	NM_001429
chr22:41550954	genomic	.
chr22:41550954	codon	.
chr22:41550954	protein	.
chr22:41550954	worst	intronic
chr22:41550954	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41550954	nvar	1
chr22:41550954	var	chr22:41550954:C/T
chr22:41551039	allele_ref	T
chr22:41551039	allele_alt	A
chr22:41551039	seqdb_ref	T
chr22:41551039	snp_fw_seq3	CTT/CAT
chr22:41551039	snp_rv_seq3	AAG/ATG
chr22:41551039	func	silent
chr22:41551039	transcript	NM_001429
chr22:41551039	genomic	.
chr22:41551039	codon	.
chr22:41551039	protein	.
chr22:41551039	worst	silent
chr22:41551039	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41551039	nvar	1
chr22:41551039	var	chr22:41551039:T/A
chr22:41553259	allele_ref	G
chr22:41553259	allele_alt	A
chr22:41553259	seqdb_ref	G
chr22:41553259	snp_fw_seq3	AGT/AAT
chr22:41553259	snp_rv_seq3	ACT/ATT
chr22:41553259	func	silent
chr22:41553259	transcript	NM_001429
chr22:41553259	genomic	.
chr22:41553259	codon	.
chr22:41553259	protein	.
chr22:41553259	worst	silent
chr22:41553259	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41553259	nvar	1
chr22:41553259	var	chr22:41553259:G/A
chr22:41564708	allele_ref	C
chr22:41564708	allele_alt	A
chr22:41564708	seqdb_ref	C
chr22:41564708	snp_fw_seq3	ACC/AAC
chr22:41564708	snp_rv_seq3	GGT/GTT
chr22:41564708	func	intronic
chr22:41564708	transcript	NM_001429
chr22:41564708	genomic	.
chr22:41564708	codon	.
chr22:41564708	protein	.
chr22:41564708	worst	intronic
chr22:41564708	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41564708	nvar	1
chr22:41564708	var	chr22:41564708:C/A
chr22:41565653	allele_ref	T
chr22:41565653	allele_alt	C
chr22:41565653	seqdb_ref	T
chr22:41565653	snp_fw_seq3	TTA/TCA
chr22:41565653	snp_rv_seq3	TAA/TGA
chr22:41565653	func	intronic
chr22:41565653	transcript	NM_001429
chr22:41565653	genomic	.
chr22:41565653	codon	.
chr22:41565653	protein	.
chr22:41565653	worst	intronic
chr22:41565653	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41565653	nvar	1
chr22:41565653	var	chr22:41565653:T/C
chr22:41566595	allele_ref	C
chr22:41566595	allele_alt	T
chr22:41566595	seqdb_ref	C
chr22:41566595	snp_fw_seq3	GCC/GTC
chr22:41566595	snp_rv_seq3	GGC/GAC
chr22:41566595	func	intronic
chr22:41566595	transcript	NM_001429
chr22:41566595	genomic	.
chr22:41566595	codon	.
chr22:41566595	protein	.
chr22:41566595	worst	intronic
chr22:41566595	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41566595	nvar	1
chr22:41566595	var	chr22:41566595:C/T
chr22:41568480	allele_ref	T
chr22:41568480	allele_alt	C
chr22:41568480	seqdb_ref	T
chr22:41568480	snp_fw_seq3	ATA/ACA
chr22:41568480	snp_rv_seq3	TAT/TGT
chr22:41568480	func	intronic
chr22:41568480	transcript	NM_001429
chr22:41568480	genomic	.
chr22:41568480	codon	.
chr22:41568480	protein	.
chr22:41568480	worst	intronic
chr22:41568480	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41568480	nvar	1
chr22:41568480	var	chr22:41568480:T/C
chr22:41569609	allele_ref	C
chr22:41569609	allele_alt	T
chr22:41569609	seqdb_ref	C
chr22:41569609	snp_fw_seq3	CCT/CTT
chr22:41569609	snp_rv_seq3	AGG/AAG
chr22:41569609	func	intronic
chr22:41569609	transcript	NM_001429
chr22:41569609	genomic	.
chr22:41569609	codon	.
chr22:41569609	protein	.
chr22:41569609	worst	intronic
chr22:41569609	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41569609	nvar	1
chr22:41569609	var	chr22:41569609:C/T
chr22:41569822	allele_ref	G
chr22:41569822	allele_alt	A
chr22:41569822	seqdb_ref	G
chr22:41569822	snp_fw_seq3	CGG/CAG
chr22:41569822	snp_rv_seq3	CCG/CTG
chr22:41569822	func	intronic
chr22:41569822	transcript	NM_001429
chr22:41569822	genomic	.
chr22:41569822	codon	.
chr22:41569822	protein	.
chr22:41569822	worst	intronic
chr22:41569822	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41569822	nvar	1
chr22:41569822	var	chr22:41569822:G/A
chr22:41572566	allele_ref	C
chr22:41572566	allele_alt	G
chr22:41572566	seqdb_ref	C
chr22:41572566	snp_fw_seq3	GCT/GGT
chr22:41572566	snp_rv_seq3	AGC/ACC
chr22:41572566	func	intronic
chr22:41572566	transcript	NM_001429
chr22:41572566	genomic	.
chr22:41572566	codon	.
chr22:41572566	protein	.
chr22:41572566	worst	intronic
chr22:41572566	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41572566	nvar	1
chr22:41572566	var	chr22:41572566:C/G
chr22:41573523	allele_ref	G
chr22:41573523	allele_alt	A
chr22:41573523	seqdb_ref	G
chr22:41573523	snp_fw_seq3	CGG/CAG
chr22:41573523	snp_rv_seq3	CCG/CTG
chr22:41573523	func	silent
chr22:41573523	transcript	NM_001429
chr22:41573523	genomic	.
chr22:41573523	codon	.
chr22:41573523	protein	.
chr22:41573523	worst	silent
chr22:41573523	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41573523	nvar	1
chr22:41573523	var	chr22:41573523:G/A
chr22:41573529	allele_ref	G
chr22:41573529	allele_alt	A
chr22:41573529	seqdb_ref	G
chr22:41573529	snp_fw_seq3	CGC/CAC
chr22:41573529	snp_rv_seq3	GCG/GTG
chr22:41573529	func	silent
chr22:41573529	transcript	NM_001429
chr22:41573529	genomic	.
chr22:41573529	codon	.
chr22:41573529	protein	.
chr22:41573529	worst	silent
chr22:41573529	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41573529	nvar	1
chr22:41573529	var	chr22:41573529:G/A
chr22:41573823	allele_ref	A
chr22:41573823	allele_alt	T
chr22:41573823	seqdb_ref	A
chr22:41573823	snp_fw_seq3	TAG/TTG
chr22:41573823	snp_rv_seq3	CTA/CAA
chr22:41573823	func	silent
chr22:41573823	transcript	NM_001429
chr22:41573823	genomic	.
chr22:41573823	codon	.
chr22:41573823	protein	.
chr22:41573823	worst	silent
chr22:41573823	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41573823	nvar	1
chr22:41573823	var	chr22:41573823:A/T
chr22:41574087	allele_ref	C
chr22:41574087	allele_alt	T
chr22:41574087	seqdb_ref	C
chr22:41574087	snp_fw_seq3	TCC/TTC
chr22:41574087	snp_rv_seq3	GGA/GAA
chr22:41574087	func	silent
chr22:41574087	transcript	NM_001429
chr22:41574087	genomic	.
chr22:41574087	codon	.
chr22:41574087	protein	.
chr22:41574087	worst	silent
chr22:41574087	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41574087	nvar	1
chr22:41574087	var	chr22:41574087:C/T
chr22:41609859	allele_ref	T
chr22:41609859	allele_alt	C
chr22:41609859	seqdb_ref	T
chr22:41609859	snp_fw_seq3	GTC/GCC
chr22:41609859	snp_rv_seq3	GAC/GGC
chr22:41609859	func	intronic
chr22:41609859	transcript	NM_031488
chr22:41609859	genomic	.
chr22:41609859	codon	.
chr22:41609859	protein	.
chr22:41609859	worst	intronic
chr22:41609859	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41609859	nvar	1
chr22:41609859	var	chr22:41609859:T/C
chr22:41610024	allele_ref	G
chr22:41610024	allele_alt	A
chr22:41610024	seqdb_ref	G
chr22:41610024	snp_fw_seq3	GGT/GAT
chr22:41610024	snp_rv_seq3	ACC/ATC
chr22:41610024	func	silent
chr22:41610024	transcript	NM_031488
chr22:41610024	genomic	.
chr22:41610024	codon	.
chr22:41610024	protein	.
chr22:41610024	worst	silent
chr22:41610024	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41610024	nvar	1
chr22:41610024	var	chr22:41610024:G/A
chr22:41612265	allele_ref	C
chr22:41612265	allele_alt	T
chr22:41612265	seqdb_ref	C
chr22:41612265	snp_fw_seq3	ACG/ATG
chr22:41612265	snp_rv_seq3	CGT/CAT
chr22:41612265	func	silent,splice
chr22:41612265	annot_details	DIST=-1,NMD=0,OFPTV=1,EXIN=4,ISEQ=GTAAGA,ESEQ=AAGACG,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS4+-1C>T
chr22:41612265	transcript	NM_031488,NM_031488
chr22:41612265	genomic	.,.
chr22:41612265	codon	.,.
chr22:41612265	protein	.,.
chr22:41612265	worst	splice
chr22:41612265	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41612265	nvar	1
chr22:41612265	var	chr22:41612265:C/T
chr22:41613188	allele_ref	C
chr22:41613188	allele_alt	T
chr22:41613188	seqdb_ref	C
chr22:41613188	snp_fw_seq3	CCG/CTG
chr22:41613188	snp_rv_seq3	CGG/CAG
chr22:41613188	func	silent
chr22:41613188	transcript	NM_031488
chr22:41613188	genomic	.
chr22:41613188	codon	.
chr22:41613188	protein	.
chr22:41613188	worst	silent
chr22:41613188	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41613188	nvar	1
chr22:41613188	var	chr22:41613188:C/T
chr22:41613246	allele_ref	G
chr22:41613246	allele_alt	A
chr22:41613246	seqdb_ref	G
chr22:41613246	snp_fw_seq3	CGG/CAG
chr22:41613246	snp_rv_seq3	CCG/CTG
chr22:41613246	func	intronic
chr22:41613246	transcript	NM_031488
chr22:41613246	genomic	.
chr22:41613246	codon	.
chr22:41613246	protein	.
chr22:41613246	worst	intronic
chr22:41613246	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41613246	nvar	1
chr22:41613246	var	chr22:41613246:G/A
chr22:41613250	allele_ref	C
chr22:41613250	allele_alt	A
chr22:41613250	seqdb_ref	C
chr22:41613250	snp_fw_seq3	CCT/CAT
chr22:41613250	snp_rv_seq3	AGG/ATG
chr22:41613250	func	intronic
chr22:41613250	transcript	NM_031488
chr22:41613250	genomic	.
chr22:41613250	codon	.
chr22:41613250	protein	.
chr22:41613250	worst	intronic
chr22:41613250	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41613250	nvar	1
chr22:41613250	var	chr22:41613250:C/A
chr22:41615376	allele_ref	C
chr22:41615376	allele_alt	T
chr22:41615376	seqdb_ref	C
chr22:41615376	snp_fw_seq3	GCT/GTT
chr22:41615376	snp_rv_seq3	AGC/AAC
chr22:41615376	func	intronic
chr22:41615376	transcript	NM_031488
chr22:41615376	genomic	.
chr22:41615376	codon	.
chr22:41615376	protein	.
chr22:41615376	worst	intronic
chr22:41615376	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41615376	nvar	1
chr22:41615376	var	chr22:41615376:C/T
chr22:41615404	allele_ref	C
chr22:41615404	allele_alt	T
chr22:41615404	seqdb_ref	C
chr22:41615404	snp_fw_seq3	ACA/ATA
chr22:41615404	snp_rv_seq3	TGT/TAT
chr22:41615404	func	intronic
chr22:41615404	transcript	NM_031488
chr22:41615404	genomic	.
chr22:41615404	codon	.
chr22:41615404	protein	.
chr22:41615404	worst	intronic
chr22:41615404	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41615404	nvar	1
chr22:41615404	var	chr22:41615404:C/T
chr22:41616778	allele_ref	C
chr22:41616778	allele_alt	T
chr22:41616778	seqdb_ref	C
chr22:41616778	snp_fw_seq3	ACG/ATG
chr22:41616778	snp_rv_seq3	CGT/CAT
chr22:41616778	func	silent
chr22:41616778	transcript	NM_031488
chr22:41616778	genomic	.
chr22:41616778	codon	.
chr22:41616778	protein	.
chr22:41616778	worst	silent
chr22:41616778	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41616778	nvar	1
chr22:41616778	var	chr22:41616778:C/T
chr22:41617318	allele_ref	G
chr22:41617318	allele_alt	C
chr22:41617318	seqdb_ref	G
chr22:41617318	snp_fw_seq3	TGC/TCC
chr22:41617318	snp_rv_seq3	GCA/GGA
chr22:41617318	func	intronic
chr22:41617318	transcript	NM_031488
chr22:41617318	genomic	.
chr22:41617318	codon	.
chr22:41617318	protein	.
chr22:41617318	worst	intronic
chr22:41617318	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41617318	nvar	1
chr22:41617318	var	chr22:41617318:G/C
chr22:41622724	allele_ref	C
chr22:41622724	allele_alt	T
chr22:41622724	seqdb_ref	C
chr22:41622724	snp_fw_seq3	CCG/CTG
chr22:41622724	snp_rv_seq3	CGG/CAG
chr22:41622724	func	silent
chr22:41622724	transcript	NM_031488
chr22:41622724	genomic	.
chr22:41622724	codon	.
chr22:41622724	protein	.
chr22:41622724	worst	silent
chr22:41622724	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41622724	nvar	1
chr22:41622724	var	chr22:41622724:C/T
chr22:41623324	allele_ref	G
chr22:41623324	allele_alt	T
chr22:41623324	seqdb_ref	G
chr22:41623324	snp_fw_seq3	CGC/CTC
chr22:41623324	snp_rv_seq3	GCG/GAG
chr22:41623324	func	splice,missense
chr22:41623324	annot_details	DIST=-3,NMD=0,OFPTV=1,EXIN=14,ISEQ=GTGTGG,ESEQ=CCGCAG,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS14+-3G>T
chr22:41623324	transcript	NM_031488,NM_031488
chr22:41623324	genomic	.,g.1819G>T
chr22:41623324	codon	.,c.1819GCA>TCA
chr22:41623324	protein	.,p.607A>S
chr22:41623324	worst	missense
chr22:41623324	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41623324	nvar	1
chr22:41623324	var	chr22:41623324:G/T
chr22:41623351	allele_ref	A
chr22:41623351	allele_alt	G
chr22:41623351	seqdb_ref	A
chr22:41623351	snp_fw_seq3	GAG/GGG
chr22:41623351	snp_rv_seq3	CTC/CCC
chr22:41623351	func	intronic
chr22:41623351	transcript	NM_031488
chr22:41623351	genomic	.
chr22:41623351	codon	.
chr22:41623351	protein	.
chr22:41623351	worst	intronic
chr22:41623351	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41623351	nvar	1
chr22:41623351	var	chr22:41623351:A/G
chr22:41645303	allele_ref	G
chr22:41645303	allele_alt	T
chr22:41645303	seqdb_ref	G
chr22:41645303	snp_fw_seq3	AGG/ATG
chr22:41645303	snp_rv_seq3	CCT/CAT
chr22:41645303	func	intronic
chr22:41645303	transcript	NM_002883
chr22:41645303	genomic	.
chr22:41645303	codon	.
chr22:41645303	protein	.
chr22:41645303	worst	intronic
chr22:41645303	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41645303	nvar	1
chr22:41645303	var	chr22:41645303:G/T
chr22:41645707	allele_ref	G
chr22:41645707	allele_alt	A
chr22:41645707	seqdb_ref	G
chr22:41645707	snp_fw_seq3	CGG/CAG
chr22:41645707	snp_rv_seq3	CCG/CTG
chr22:41645707	func	intronic
chr22:41645707	transcript	NM_002883
chr22:41645707	genomic	.
chr22:41645707	codon	.
chr22:41645707	protein	.
chr22:41645707	worst	intronic
chr22:41645707	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41645707	nvar	1
chr22:41645707	var	chr22:41645707:G/A
chr22:41645757	allele_ref	C
chr22:41645757	allele_alt	G
chr22:41645757	seqdb_ref	C
chr22:41645757	snp_fw_seq3	GCA/GGA
chr22:41645757	snp_rv_seq3	TGC/TCC
chr22:41645757	func	silent
chr22:41645757	transcript	NM_002883
chr22:41645757	genomic	.
chr22:41645757	codon	.
chr22:41645757	protein	.
chr22:41645757	worst	silent
chr22:41645757	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41645757	nvar	1
chr22:41645757	var	chr22:41645757:C/G
chr22:41645871	allele_ref	G
chr22:41645871	allele_alt	A
chr22:41645871	seqdb_ref	G
chr22:41645871	snp_fw_seq3	TGG/TAG
chr22:41645871	snp_rv_seq3	CCA/CTA
chr22:41645871	func	intronic
chr22:41645871	transcript	NM_002883
chr22:41645871	genomic	.
chr22:41645871	codon	.
chr22:41645871	protein	.
chr22:41645871	worst	intronic
chr22:41645871	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41645871	nvar	1
chr22:41645871	var	chr22:41645871:G/A
chr22:41650371	allele_ref	G
chr22:41650371	allele_alt	C
chr22:41650371	seqdb_ref	G
chr22:41650371	snp_fw_seq3	CGC/CCC
chr22:41650371	snp_rv_seq3	GCG/GGG
chr22:41650371	func	missense
chr22:41650371	transcript	NM_002883
chr22:41650371	genomic	g.1201G>C
chr22:41650371	codon	c.1201CGA>GGA
chr22:41650371	protein	p.401R>G
chr22:41650371	worst	missense
chr22:41650371	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41650371	nvar	1
chr22:41650371	var	chr22:41650371:G/C
chr22:41650548	allele_ref	T
chr22:41650548	allele_alt	G
chr22:41650548	seqdb_ref	T
chr22:41650548	snp_fw_seq3	GTT/GGT
chr22:41650548	snp_rv_seq3	AAC/ACC
chr22:41650548	func	intronic
chr22:41650548	transcript	NM_002883
chr22:41650548	genomic	.
chr22:41650548	codon	.
chr22:41650548	protein	.
chr22:41650548	worst	intronic
chr22:41650548	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41650548	nvar	1
chr22:41650548	var	chr22:41650548:T/G
chr22:41652257	allele_ref	G
chr22:41652257	allele_alt	C
chr22:41652257	seqdb_ref	G
chr22:41652257	snp_fw_seq3	AGC/ACC
chr22:41652257	snp_rv_seq3	GCT/GGT
chr22:41652257	func	missense
chr22:41652257	transcript	NM_002883
chr22:41652257	genomic	g.926G>C
chr22:41652257	codon	c.926GCT>GGT
chr22:41652257	protein	p.309A>G
chr22:41652257	worst	missense
chr22:41652257	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41652257	nvar	1
chr22:41652257	var	chr22:41652257:G/C
chr22:41652733	allele_ref	G
chr22:41652733	allele_alt	A
chr22:41652733	seqdb_ref	G
chr22:41652733	snp_fw_seq3	CGC/CAC
chr22:41652733	snp_rv_seq3	GCG/GTG
chr22:41652733	func	silent
chr22:41652733	transcript	NM_002883
chr22:41652733	genomic	.
chr22:41652733	codon	.
chr22:41652733	protein	.
chr22:41652733	worst	silent
chr22:41652733	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41652733	nvar	1
chr22:41652733	var	chr22:41652733:G/A
chr22:41652846	allele_ref	G
chr22:41652846	allele_alt	T
chr22:41652846	seqdb_ref	G
chr22:41652846	snp_fw_seq3	AGG/ATG
chr22:41652846	snp_rv_seq3	CCT/CAT
chr22:41652846	func	intronic
chr22:41652846	transcript	NM_002883
chr22:41652846	genomic	.
chr22:41652846	codon	.
chr22:41652846	protein	.
chr22:41652846	worst	intronic
chr22:41652846	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41652846	nvar	1
chr22:41652846	var	chr22:41652846:G/T
chr22:41653946	allele_ref	C
chr22:41653946	allele_alt	T
chr22:41653946	seqdb_ref	C
chr22:41653946	snp_fw_seq3	GCC/GTC
chr22:41653946	snp_rv_seq3	GGC/GAC
chr22:41653946	func	intronic
chr22:41653946	transcript	NM_002883
chr22:41653946	genomic	.
chr22:41653946	codon	.
chr22:41653946	protein	.
chr22:41653946	worst	intronic
chr22:41653946	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41653946	nvar	1
chr22:41653946	var	chr22:41653946:C/T
chr22:41657626	allele_ref	C
chr22:41657626	allele_alt	T
chr22:41657626	seqdb_ref	C
chr22:41657626	snp_fw_seq3	CCC/CTC
chr22:41657626	snp_rv_seq3	GGG/GAG
chr22:41657626	func	intronic
chr22:41657626	transcript	NM_002883
chr22:41657626	genomic	.
chr22:41657626	codon	.
chr22:41657626	protein	.
chr22:41657626	worst	intronic
chr22:41657626	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41657626	nvar	1
chr22:41657626	var	chr22:41657626:C/T
chr22:41660645	allele_ref	G
chr22:41660645	allele_alt	A
chr22:41660645	seqdb_ref	G
chr22:41660645	snp_fw_seq3	CGG/CAG
chr22:41660645	snp_rv_seq3	CCG/CTG
chr22:41660645	func	intronic
chr22:41660645	transcript	NM_002883
chr22:41660645	genomic	.
chr22:41660645	codon	.
chr22:41660645	protein	.
chr22:41660645	worst	intronic
chr22:41660645	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41660645	nvar	1
chr22:41660645	var	chr22:41660645:G/A
chr22:41721539	allele_ref	C
chr22:41721539	allele_alt	T
chr22:41721539	seqdb_ref	C
chr22:41721539	snp_fw_seq3	CCC/CTC
chr22:41721539	snp_rv_seq3	GGG/GAG
chr22:41721539	func	intronic
chr22:41721539	transcript	NM_017590
chr22:41721539	genomic	.
chr22:41721539	codon	.
chr22:41721539	protein	.
chr22:41721539	worst	intronic
chr22:41721539	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41721539	nvar	1
chr22:41721539	var	chr22:41721539:C/T
chr22:41726053	allele_ref	G
chr22:41726053	allele_alt	A
chr22:41726053	seqdb_ref	G
chr22:41726053	snp_fw_seq3	AGG/AAG
chr22:41726053	snp_rv_seq3	CCT/CTT
chr22:41726053	func	silent
chr22:41726053	transcript	NM_017590
chr22:41726053	genomic	.
chr22:41726053	codon	.
chr22:41726053	protein	.
chr22:41726053	worst	silent
chr22:41726053	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41726053	nvar	1
chr22:41726053	var	chr22:41726053:G/A
chr22:41728242	allele_ref	G
chr22:41728242	allele_alt	T
chr22:41728242	seqdb_ref	G
chr22:41728242	snp_fw_seq3	GGG/GTG
chr22:41728242	snp_rv_seq3	CCC/CAC
chr22:41728242	func	intronic
chr22:41728242	transcript	NM_017590
chr22:41728242	genomic	.
chr22:41728242	codon	.
chr22:41728242	protein	.
chr22:41728242	worst	intronic
chr22:41728242	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41728242	nvar	1
chr22:41728242	var	chr22:41728242:G/T
chr22:41728274	allele_ref	T
chr22:41728274	allele_alt	C
chr22:41728274	seqdb_ref	T
chr22:41728274	snp_fw_seq3	ATG/ACG
chr22:41728274	snp_rv_seq3	CAT/CGT
chr22:41728274	func	intronic
chr22:41728274	transcript	NM_017590
chr22:41728274	genomic	.
chr22:41728274	codon	.
chr22:41728274	protein	.
chr22:41728274	worst	intronic
chr22:41728274	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41728274	nvar	1
chr22:41728274	var	chr22:41728274:T/C
chr22:41735075	allele_ref	C
chr22:41735075	allele_alt	T
chr22:41735075	seqdb_ref	C
chr22:41735075	snp_fw_seq3	ACG/ATG
chr22:41735075	snp_rv_seq3	CGT/CAT
chr22:41735075	func	silent
chr22:41735075	transcript	NM_017590
chr22:41735075	genomic	.
chr22:41735075	codon	.
chr22:41735075	protein	.
chr22:41735075	worst	silent
chr22:41735075	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41735075	nvar	1
chr22:41735075	var	chr22:41735075:C/T
chr22:41735108	allele_ref	C
chr22:41735108	allele_alt	T
chr22:41735108	seqdb_ref	C
chr22:41735108	snp_fw_seq3	GCA/GTA
chr22:41735108	snp_rv_seq3	TGC/TAC
chr22:41735108	func	silent
chr22:41735108	transcript	NM_017590
chr22:41735108	genomic	.
chr22:41735108	codon	.
chr22:41735108	protein	.
chr22:41735108	worst	silent
chr22:41735108	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41735108	nvar	1
chr22:41735108	var	chr22:41735108:C/T
chr22:41736188	allele_ref	A
chr22:41736188	allele_alt	C
chr22:41736188	seqdb_ref	A
chr22:41736188	snp_fw_seq3	CAG/CCG
chr22:41736188	snp_rv_seq3	CTG/CGG
chr22:41736188	func	intronic
chr22:41736188	transcript	NM_017590
chr22:41736188	genomic	.
chr22:41736188	codon	.
chr22:41736188	protein	.
chr22:41736188	worst	intronic
chr22:41736188	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41736188	nvar	1
chr22:41736188	var	chr22:41736188:A/C
chr22:41737045	allele_ref	C
chr22:41737045	allele_alt	T
chr22:41737045	seqdb_ref	C
chr22:41737045	snp_fw_seq3	ACG/ATG
chr22:41737045	snp_rv_seq3	CGT/CAT
chr22:41737045	func	intronic
chr22:41737045	transcript	NM_017590
chr22:41737045	genomic	.
chr22:41737045	codon	.
chr22:41737045	protein	.
chr22:41737045	worst	intronic
chr22:41737045	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41737045	nvar	1
chr22:41737045	var	chr22:41737045:C/T
chr22:41737160	allele_ref	T
chr22:41737160	allele_alt	C
chr22:41737160	seqdb_ref	T
chr22:41737160	snp_fw_seq3	CTT/CCT
chr22:41737160	snp_rv_seq3	AAG/AGG
chr22:41737160	func	intronic
chr22:41737160	transcript	NM_017590
chr22:41737160	genomic	.
chr22:41737160	codon	.
chr22:41737160	protein	.
chr22:41737160	worst	intronic
chr22:41737160	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41737160	nvar	1
chr22:41737160	var	chr22:41737160:T/C
chr22:41739370	allele_ref	T
chr22:41739370	allele_alt	C
chr22:41739370	seqdb_ref	T
chr22:41739370	snp_fw_seq3	CTC/CCC
chr22:41739370	snp_rv_seq3	GAG/GGG
chr22:41739370	func	intronic
chr22:41739370	transcript	NM_017590
chr22:41739370	genomic	.
chr22:41739370	codon	.
chr22:41739370	protein	.
chr22:41739370	worst	intronic
chr22:41739370	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41739370	nvar	1
chr22:41739370	var	chr22:41739370:T/C
chr22:41739451	allele_ref	G
chr22:41739451	allele_alt	A
chr22:41739451	seqdb_ref	G
chr22:41739451	snp_fw_seq3	GGG/GAG
chr22:41739451	snp_rv_seq3	CCC/CTC
chr22:41739451	func	missense
chr22:41739451	transcript	NM_017590
chr22:41739451	genomic	g.1330G>A
chr22:41739451	codon	c.1330GGC>AGC
chr22:41739451	protein	p.444G>S
chr22:41739451	worst	missense
chr22:41739451	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41739451	nvar	1
chr22:41739451	var	chr22:41739451:G/A
chr22:41739597	allele_ref	G
chr22:41739597	allele_alt	A
chr22:41739597	seqdb_ref	G
chr22:41739597	snp_fw_seq3	CGG/CAG
chr22:41739597	snp_rv_seq3	CCG/CTG
chr22:41739597	func	intronic
chr22:41739597	transcript	NM_017590
chr22:41739597	genomic	.
chr22:41739597	codon	.
chr22:41739597	protein	.
chr22:41739597	worst	intronic
chr22:41739597	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41739597	nvar	1
chr22:41739597	var	chr22:41739597:G/A
chr22:41739610	allele_ref	C
chr22:41739610	allele_alt	T
chr22:41739610	seqdb_ref	C
chr22:41739610	snp_fw_seq3	ACA/ATA
chr22:41739610	snp_rv_seq3	TGT/TAT
chr22:41739610	func	intronic
chr22:41739610	transcript	NM_017590
chr22:41739610	genomic	.
chr22:41739610	codon	.
chr22:41739610	protein	.
chr22:41739610	worst	intronic
chr22:41739610	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41739610	nvar	1
chr22:41739610	var	chr22:41739610:C/T
chr22:41744022	allele_ref	C
chr22:41744022	allele_alt	G
chr22:41744022	seqdb_ref	C
chr22:41744022	snp_fw_seq3	CCC/CGC
chr22:41744022	snp_rv_seq3	GGG/GCG
chr22:41744022	func	intronic
chr22:41744022	transcript	NM_017590
chr22:41744022	genomic	.
chr22:41744022	codon	.
chr22:41744022	protein	.
chr22:41744022	worst	intronic
chr22:41744022	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41744022	nvar	1
chr22:41744022	var	chr22:41744022:C/G
chr22:41745355	allele_ref	A
chr22:41745355	allele_alt	G
chr22:41745355	seqdb_ref	A
chr22:41745355	snp_fw_seq3	TAG/TGG
chr22:41745355	snp_rv_seq3	CTA/CCA
chr22:41745355	func	intronic
chr22:41745355	transcript	NM_017590
chr22:41745355	genomic	.
chr22:41745355	codon	.
chr22:41745355	protein	.
chr22:41745355	worst	intronic
chr22:41745355	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41745355	nvar	1
chr22:41745355	var	chr22:41745355:A/G
chr22:41751437	allele_ref	G
chr22:41751437	allele_alt	A
chr22:41751437	seqdb_ref	G
chr22:41751437	snp_fw_seq3	TGC/TAC
chr22:41751437	snp_rv_seq3	GCA/GTA
chr22:41751437	func	intronic
chr22:41751437	transcript	NM_017590
chr22:41751437	genomic	.
chr22:41751437	codon	.
chr22:41751437	protein	.
chr22:41751437	worst	intronic
chr22:41751437	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41751437	nvar	1
chr22:41751437	var	chr22:41751437:G/A
chr22:41751488	allele_ref	C
chr22:41751488	allele_alt	T
chr22:41751488	seqdb_ref	C
chr22:41751488	snp_fw_seq3	ACA/ATA
chr22:41751488	snp_rv_seq3	TGT/TAT
chr22:41751488	func	missense
chr22:41751488	transcript	NM_017590
chr22:41751488	genomic	g.2050C>T
chr22:41751488	codon	c.2050CAT>TAT
chr22:41751488	protein	p.684H>Y
chr22:41751488	worst	missense
chr22:41751488	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41751488	nvar	1
chr22:41751488	var	chr22:41751488:C/T
chr22:41752747	allele_ref	G
chr22:41752747	allele_alt	A
chr22:41752747	seqdb_ref	G
chr22:41752747	snp_fw_seq3	CGT/CAT
chr22:41752747	snp_rv_seq3	ACG/ATG
chr22:41752747	func	silent
chr22:41752747	transcript	NM_017590
chr22:41752747	genomic	.
chr22:41752747	codon	.
chr22:41752747	protein	.
chr22:41752747	worst	silent
chr22:41752747	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41752747	nvar	1
chr22:41752747	var	chr22:41752747:G/A
chr22:41753135	allele_ref	T
chr22:41753135	allele_alt	A
chr22:41753135	seqdb_ref	T
chr22:41753135	snp_fw_seq3	GTG/GAG
chr22:41753135	snp_rv_seq3	CAC/CTC
chr22:41753135	func	intronic
chr22:41753135	transcript	NM_017590
chr22:41753135	genomic	.
chr22:41753135	codon	.
chr22:41753135	protein	.
chr22:41753135	worst	intronic
chr22:41753135	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41753135	nvar	1
chr22:41753135	var	chr22:41753135:T/A
chr22:41791990	allele_ref	A
chr22:41791990	allele_alt	G
chr22:41791990	seqdb_ref	A
chr22:41791990	snp_fw_seq3	TAC/TGC
chr22:41791990	snp_rv_seq3	GTA/GCA
chr22:41791990	func	3-UTR,3-UTR
chr22:41791990	transcript	NM_001145398,NM_003216
chr22:41791990	genomic	.,.
chr22:41791990	codon	.,.
chr22:41791990	protein	.,.
chr22:41791990	worst	UTR3
chr22:41791990	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:41791990	nvar	1
chr22:41791990	var	chr22:41791990:A/G
chr22:41832561	allele_ref	G
chr22:41832561	allele_alt	A
chr22:41832561	seqdb_ref	g
chr22:41832561	snp_fw_seq3	cgt/cAt
chr22:41832561	snp_rv_seq3	acg/aTg
chr22:41832561	func	silent
chr22:41832561	transcript	NM_016272
chr22:41832561	genomic	.
chr22:41832561	codon	.
chr22:41832561	protein	.
chr22:41832561	worst	silent
chr22:41832561	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41832561	nvar	1
chr22:41832561	var	chr22:41832561:G/A
chr22:41832698	allele_ref	G
chr22:41832698	allele_alt	A
chr22:41832698	seqdb_ref	G
chr22:41832698	snp_fw_seq3	CGA/CAA
chr22:41832698	snp_rv_seq3	TCG/TTG
chr22:41832698	func	missense
chr22:41832698	transcript	NM_016272
chr22:41832698	genomic	g.652G>A
chr22:41832698	codon	c.652CGC>TGC
chr22:41832698	protein	p.218R>C
chr22:41832698	worst	missense
chr22:41832698	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41832698	nvar	1
chr22:41832698	var	chr22:41832698:G/A
chr22:41832816	allele_ref	G
chr22:41832816	allele_alt	A
chr22:41832816	seqdb_ref	G
chr22:41832816	snp_fw_seq3	CGG/CAG
chr22:41832816	snp_rv_seq3	CCG/CTG
chr22:41832816	func	silent
chr22:41832816	transcript	NM_016272
chr22:41832816	genomic	.
chr22:41832816	codon	.
chr22:41832816	protein	.
chr22:41832816	worst	silent
chr22:41832816	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41832816	nvar	1
chr22:41832816	var	chr22:41832816:G/A
chr22:41833116	allele_ref	C
chr22:41833116	allele_alt	T
chr22:41833116	seqdb_ref	C
chr22:41833116	snp_fw_seq3	CCG/CTG
chr22:41833116	snp_rv_seq3	CGG/CAG
chr22:41833116	func	silent
chr22:41833116	transcript	NM_016272
chr22:41833116	genomic	.
chr22:41833116	codon	.
chr22:41833116	protein	.
chr22:41833116	worst	silent
chr22:41833116	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41833116	nvar	1
chr22:41833116	var	chr22:41833116:C/T
chr22:41863423	allele_ref	A
chr22:41863423	allele_alt	G
chr22:41863423	seqdb_ref	A
chr22:41863423	snp_fw_seq3	GAA/GGA
chr22:41863423	snp_rv_seq3	TTC/TCC
chr22:41863423	func	intronic
chr22:41863423	transcript	NM_032758
chr22:41863423	genomic	.
chr22:41863423	codon	.
chr22:41863423	protein	.
chr22:41863423	worst	intronic
chr22:41863423	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41863423	nvar	1
chr22:41863423	var	chr22:41863423:A/G
chr22:41865217	allele_ref	G
chr22:41865217	allele_alt	C
chr22:41865217	seqdb_ref	G
chr22:41865217	snp_fw_seq3	CGG/CCG
chr22:41865217	snp_rv_seq3	CCG/CGG
chr22:41865217	func	intronic
chr22:41865217	transcript	NM_001098
chr22:41865217	genomic	.
chr22:41865217	codon	.
chr22:41865217	protein	.
chr22:41865217	worst	intronic
chr22:41865217	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41865217	nvar	1
chr22:41865217	var	chr22:41865217:G/C
chr22:41895777	allele_ref	A
chr22:41895777	allele_alt	G
chr22:41895777	seqdb_ref	A
chr22:41895777	snp_fw_seq3	AAC/AGC
chr22:41895777	snp_rv_seq3	GTT/GCT
chr22:41895777	func	silent
chr22:41895777	transcript	NM_001098
chr22:41895777	genomic	.
chr22:41895777	codon	.
chr22:41895777	protein	.
chr22:41895777	worst	silent
chr22:41895777	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41895777	nvar	1
chr22:41895777	var	chr22:41895777:A/G
chr22:41895813	allele_ref	C
chr22:41895813	allele_alt	T
chr22:41895813	seqdb_ref	C
chr22:41895813	snp_fw_seq3	ACG/ATG
chr22:41895813	snp_rv_seq3	CGT/CAT
chr22:41895813	func	silent
chr22:41895813	transcript	NM_001098
chr22:41895813	genomic	.
chr22:41895813	codon	.
chr22:41895813	protein	.
chr22:41895813	worst	silent
chr22:41895813	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41895813	nvar	1
chr22:41895813	var	chr22:41895813:C/T
chr22:41903813	allele_ref	A
chr22:41903813	allele_alt	C
chr22:41903813	seqdb_ref	A
chr22:41903813	snp_fw_seq3	CAC/CCC
chr22:41903813	snp_rv_seq3	GTG/GGG
chr22:41903813	func	silent
chr22:41903813	transcript	NM_001098
chr22:41903813	genomic	.
chr22:41903813	codon	.
chr22:41903813	protein	.
chr22:41903813	worst	silent
chr22:41903813	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41903813	nvar	1
chr22:41903813	var	chr22:41903813:A/C
chr22:41903960	allele_ref	C
chr22:41903960	allele_alt	T
chr22:41903960	seqdb_ref	C
chr22:41903960	snp_fw_seq3	GCG/GTG
chr22:41903960	snp_rv_seq3	CGC/CAC
chr22:41903960	func	silent
chr22:41903960	transcript	NM_001098
chr22:41903960	genomic	.
chr22:41903960	codon	.
chr22:41903960	protein	.
chr22:41903960	worst	silent
chr22:41903960	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41903960	nvar	1
chr22:41903960	var	chr22:41903960:C/T
chr22:41907933	allele_ref	C
chr22:41907933	allele_alt	T
chr22:41907933	seqdb_ref	C
chr22:41907933	snp_fw_seq3	GCG/GTG
chr22:41907933	snp_rv_seq3	CGC/CAC
chr22:41907933	func	silent
chr22:41907933	transcript	NM_001098
chr22:41907933	genomic	.
chr22:41907933	codon	.
chr22:41907933	protein	.
chr22:41907933	worst	silent
chr22:41907933	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41907933	nvar	1
chr22:41907933	var	chr22:41907933:C/T
chr22:41911525	allele_ref	C
chr22:41911525	allele_alt	T
chr22:41911525	seqdb_ref	C
chr22:41911525	snp_fw_seq3	GCT/GTT
chr22:41911525	snp_rv_seq3	AGC/AAC
chr22:41911525	func	silent
chr22:41911525	transcript	NM_001098
chr22:41911525	genomic	.
chr22:41911525	codon	.
chr22:41911525	protein	.
chr22:41911525	worst	silent
chr22:41911525	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41911525	nvar	1
chr22:41911525	var	chr22:41911525:C/T
chr22:41914532	allele_ref	C
chr22:41914532	allele_alt	T
chr22:41914532	seqdb_ref	C
chr22:41914532	snp_fw_seq3	CCC/CTC
chr22:41914532	snp_rv_seq3	GGG/GAG
chr22:41914532	func	missense
chr22:41914532	transcript	NM_001098
chr22:41914532	genomic	g.988C>T
chr22:41914532	codon	c.988CCT>TCT
chr22:41914532	protein	p.330P>S
chr22:41914532	worst	missense
chr22:41914532	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41914532	nvar	1
chr22:41914532	var	chr22:41914532:C/T
chr22:41914593	allele_ref	C
chr22:41914593	allele_alt	T
chr22:41914593	seqdb_ref	C
chr22:41914593	snp_fw_seq3	ACT/ATT
chr22:41914593	snp_rv_seq3	AGT/AAT
chr22:41914593	func	intronic
chr22:41914593	transcript	NM_001098
chr22:41914593	genomic	.
chr22:41914593	codon	.
chr22:41914593	protein	.
chr22:41914593	worst	intronic
chr22:41914593	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41914593	nvar	1
chr22:41914593	var	chr22:41914593:C/T
chr22:41919330	allele_ref	A
chr22:41919330	allele_alt	G
chr22:41919330	seqdb_ref	A
chr22:41919330	snp_fw_seq3	CAG/CGG
chr22:41919330	snp_rv_seq3	CTG/CCG
chr22:41919330	func	intronic
chr22:41919330	transcript	NM_001098
chr22:41919330	genomic	.
chr22:41919330	codon	.
chr22:41919330	protein	.
chr22:41919330	worst	intronic
chr22:41919330	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41919330	nvar	1
chr22:41919330	var	chr22:41919330:A/G
chr22:41919787	allele_ref	G
chr22:41919787	allele_alt	T
chr22:41919787	seqdb_ref	G
chr22:41919787	snp_fw_seq3	AGG/ATG
chr22:41919787	snp_rv_seq3	CCT/CAT
chr22:41919787	func	intronic
chr22:41919787	transcript	NM_001098
chr22:41919787	genomic	.
chr22:41919787	codon	.
chr22:41919787	protein	.
chr22:41919787	worst	intronic
chr22:41919787	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41919787	nvar	1
chr22:41919787	var	chr22:41919787:G/T
chr22:41922376	allele_ref	T
chr22:41922376	allele_alt	A
chr22:41922376	seqdb_ref	T
chr22:41922376	snp_fw_seq3	TTG/TAG
chr22:41922376	snp_rv_seq3	CAA/CTA
chr22:41922376	func	3-UTR,3-UTR,silent,3-UTR
chr22:41922376	transcript	NM_001018050,NM_001018052,NM_001098,NM_138338
chr22:41922376	genomic	.,.,.,.
chr22:41922376	codon	.,.,.,.
chr22:41922376	protein	.,.,.,.
chr22:41922376	worst	silent
chr22:41922376	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=3,npcRNA=0
chr22:41922376	nvar	1
chr22:41922376	var	chr22:41922376:T/A
chr22:41923260	allele_ref	G
chr22:41923260	allele_alt	C
chr22:41923260	seqdb_ref	G
chr22:41923260	snp_fw_seq3	TGC/TCC
chr22:41923260	snp_rv_seq3	GCA/GGA
chr22:41923260	func	3-UTR,3-UTR,intronic,3-UTR
chr22:41923260	transcript	NM_001018050,NM_001018052,NM_001098,NM_138338
chr22:41923260	genomic	.,.,.,.
chr22:41923260	codon	.,.,.,.
chr22:41923260	protein	.,.,.,.
chr22:41923260	worst	UTR3
chr22:41923260	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=3,npcRNA=0
chr22:41923260	nvar	1
chr22:41923260	var	chr22:41923260:G/C
chr22:41923279	allele_ref	G
chr22:41923279	allele_alt	A
chr22:41923279	seqdb_ref	G
chr22:41923279	snp_fw_seq3	CGC/CAC
chr22:41923279	snp_rv_seq3	GCG/GTG
chr22:41923279	func	3-UTR,3-UTR,intronic,3-UTR
chr22:41923279	transcript	NM_001018050,NM_001018052,NM_001098,NM_138338
chr22:41923279	genomic	.,.,.,.
chr22:41923279	codon	.,.,.,.
chr22:41923279	protein	.,.,.,.
chr22:41923279	worst	UTR3
chr22:41923279	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=3,npcRNA=0
chr22:41923279	nvar	1
chr22:41923279	var	chr22:41923279:G/A
chr22:41924454	allele_ref	T
chr22:41924454	allele_alt	C
chr22:41924454	seqdb_ref	T
chr22:41924454	snp_fw_seq3	CTT/CCT
chr22:41924454	snp_rv_seq3	AAG/AGG
chr22:41924454	func	3-UTR,3-UTR,intronic,3-UTR
chr22:41924454	transcript	NM_001018050,NM_001018052,NM_001098,NM_138338
chr22:41924454	genomic	.,.,.,.
chr22:41924454	codon	.,.,.,.
chr22:41924454	protein	.,.,.,.
chr22:41924454	worst	UTR3
chr22:41924454	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=3,npcRNA=0
chr22:41924454	nvar	1
chr22:41924454	var	chr22:41924454:T/C
chr22:41925266	allele_ref	G
chr22:41925266	allele_alt	A
chr22:41925266	seqdb_ref	G
chr22:41925266	snp_fw_seq3	GGT/GAT
chr22:41925266	snp_rv_seq3	ACC/ATC
chr22:41925266	func	3-UTR,3-UTR,3-UTR
chr22:41925266	transcript	NM_001018050,NM_001018052,NM_138338
chr22:41925266	genomic	.,.,.
chr22:41925266	codon	.,.,.
chr22:41925266	protein	.,.,.
chr22:41925266	worst	UTR3
chr22:41925266	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=3,npcRNA=0
chr22:41925266	nvar	1
chr22:41925266	var	chr22:41925266:G/A
chr22:41926730	allele_ref	A
chr22:41926730	allele_alt	C
chr22:41926730	seqdb_ref	A
chr22:41926730	snp_fw_seq3	CAC/CCC
chr22:41926730	snp_rv_seq3	GTG/GGG
chr22:41926730	func	missense,missense,missense
chr22:41926730	transcript	NM_001018050,NM_001018052,NM_138338
chr22:41926730	genomic	g.522A>C,g.435A>C,g.522A>C
chr22:41926730	codon	c.522AGT>AGG,c.435AGT>AGG,c.522AGT>AGG
chr22:41926730	protein	p.174S>R,p.145S>R,p.174S>R
chr22:41926730	worst	missense
chr22:41926730	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41926730	nvar	1
chr22:41926730	var	chr22:41926730:A/C
chr22:41926757	allele_ref	G
chr22:41926757	allele_alt	A
chr22:41926757	seqdb_ref	G
chr22:41926757	snp_fw_seq3	TGG/TAG
chr22:41926757	snp_rv_seq3	CCA/CTA
chr22:41926757	func	silent,silent,silent
chr22:41926757	transcript	NM_001018050,NM_001018052,NM_138338
chr22:41926757	genomic	.,.,.
chr22:41926757	codon	.,.,.
chr22:41926757	protein	.,.,.
chr22:41926757	worst	silent
chr22:41926757	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41926757	nvar	1
chr22:41926757	var	chr22:41926757:G/A
chr22:41928785	allele_ref	G
chr22:41928785	allele_alt	A
chr22:41928785	seqdb_ref	G
chr22:41928785	snp_fw_seq3	CGG/CAG
chr22:41928785	snp_rv_seq3	CCG/CTG
chr22:41928785	func	intronic,intronic,intronic
chr22:41928785	transcript	NM_001018050,NM_001018052,NM_138338
chr22:41928785	genomic	.,.,.
chr22:41928785	codon	.,.,.
chr22:41928785	protein	.,.,.
chr22:41928785	worst	intronic
chr22:41928785	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41928785	nvar	1
chr22:41928785	var	chr22:41928785:G/A
chr22:41970770	allele_ref	C
chr22:41970770	allele_alt	T
chr22:41970770	seqdb_ref	C
chr22:41970770	snp_fw_seq3	ACG/ATG
chr22:41970770	snp_rv_seq3	CGT/CAT
chr22:41970770	func	silent
chr22:41970770	transcript	NM_014460
chr22:41970770	genomic	.
chr22:41970770	codon	.
chr22:41970770	protein	.
chr22:41970770	worst	silent
chr22:41970770	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41970770	nvar	1
chr22:41970770	var	chr22:41970770:C/T
chr22:41970872	allele_ref	G
chr22:41970872	allele_alt	A
chr22:41970872	seqdb_ref	G
chr22:41970872	snp_fw_seq3	CGT/CAT
chr22:41970872	snp_rv_seq3	ACG/ATG
chr22:41970872	func	silent
chr22:41970872	transcript	NM_014460
chr22:41970872	genomic	.
chr22:41970872	codon	.
chr22:41970872	protein	.
chr22:41970872	worst	silent
chr22:41970872	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41970872	nvar	1
chr22:41970872	var	chr22:41970872:G/A
chr22:41970909	allele_ref	T
chr22:41970909	allele_alt	C
chr22:41970909	seqdb_ref	T
chr22:41970909	snp_fw_seq3	GTT/GCT
chr22:41970909	snp_rv_seq3	AAC/AGC
chr22:41970909	func	3-UTR
chr22:41970909	transcript	NM_014460
chr22:41970909	genomic	.
chr22:41970909	codon	.
chr22:41970909	protein	.
chr22:41970909	worst	UTR3
chr22:41970909	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:41970909	nvar	1
chr22:41970909	var	chr22:41970909:T/C
chr22:41974805	allele_ref	C
chr22:41974805	allele_alt	T
chr22:41974805	seqdb_ref	C
chr22:41974805	snp_fw_seq3	ACG/ATG
chr22:41974805	snp_rv_seq3	CGT/CAT
chr22:41974805	func	intronic,splice
chr22:41974805	annot_details	DIST=5,NMD=0,OFPTV=1,EXIN=6,ISEQ=TGCATG,ESEQ=GAGCTC,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS6+5G>A
chr22:41974805	transcript	NM_002676,NM_002676
chr22:41974805	genomic	.,.
chr22:41974805	codon	.,.
chr22:41974805	protein	.,.
chr22:41974805	worst	splice
chr22:41974805	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41974805	nvar	1
chr22:41974805	var	chr22:41974805:C/T
chr22:41974904	allele_ref	G
chr22:41974904	allele_alt	A
chr22:41974904	seqdb_ref	G
chr22:41974904	snp_fw_seq3	CGG/CAG
chr22:41974904	snp_rv_seq3	CCG/CTG
chr22:41974904	func	intronic
chr22:41974904	transcript	NM_002676
chr22:41974904	genomic	.
chr22:41974904	codon	.
chr22:41974904	protein	.
chr22:41974904	worst	intronic
chr22:41974904	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41974904	nvar	1
chr22:41974904	var	chr22:41974904:G/A
chr22:41982107	allele_ref	C
chr22:41982107	allele_alt	T
chr22:41982107	seqdb_ref	C
chr22:41982107	snp_fw_seq3	GCG/GTG
chr22:41982107	snp_rv_seq3	CGC/CAC
chr22:41982107	func	missense
chr22:41982107	transcript	NM_002676
chr22:41982107	genomic	g.178C>T
chr22:41982107	codon	c.178GCT>ACT
chr22:41982107	protein	p.60A>T
chr22:41982107	worst	missense
chr22:41982107	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41982107	nvar	1
chr22:41982107	var	chr22:41982107:C/T
chr22:41985801	allele_ref	G
chr22:41985801	allele_alt	A
chr22:41985801	seqdb_ref	G
chr22:41985801	snp_fw_seq3	TGA/TAA
chr22:41985801	snp_rv_seq3	TCA/TTA
chr22:41985801	func	silent
chr22:41985801	transcript	NM_002676
chr22:41985801	genomic	.
chr22:41985801	codon	.
chr22:41985801	protein	.
chr22:41985801	worst	silent
chr22:41985801	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:41985801	nvar	1
chr22:41985801	var	chr22:41985801:G/A
chr22:42046910	allele_ref	C
chr22:42046910	allele_alt	G
chr22:42046910	seqdb_ref	C
chr22:42046910	snp_fw_seq3	ACC/AGC
chr22:42046910	snp_rv_seq3	GGT/GCT
chr22:42046910	func	intronic
chr22:42046910	transcript	NM_001469
chr22:42046910	genomic	.
chr22:42046910	codon	.
chr22:42046910	protein	.
chr22:42046910	worst	intronic
chr22:42046910	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42046910	nvar	1
chr22:42046910	var	chr22:42046910:C/G
chr22:42054365	allele_ref	G
chr22:42054365	allele_alt	A
chr22:42054365	seqdb_ref	G
chr22:42054365	snp_fw_seq3	GGT/GAT
chr22:42054365	snp_rv_seq3	ACC/ATC
chr22:42054365	func	intronic
chr22:42054365	transcript	NM_001469
chr22:42054365	genomic	.
chr22:42054365	codon	.
chr22:42054365	protein	.
chr22:42054365	worst	intronic
chr22:42054365	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42054365	nvar	1
chr22:42054365	var	chr22:42054365:G/A
chr22:42059768	allele_ref	G
chr22:42059768	allele_alt	T
chr22:42059768	seqdb_ref	G
chr22:42059768	snp_fw_seq3	GGC/GTC
chr22:42059768	snp_rv_seq3	GCC/GAC
chr22:42059768	func	silent
chr22:42059768	transcript	NM_001469
chr22:42059768	genomic	.
chr22:42059768	codon	.
chr22:42059768	protein	.
chr22:42059768	worst	silent
chr22:42059768	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42059768	nvar	1
chr22:42059768	var	chr22:42059768:G/T
chr22:42076330	allele_ref	G
chr22:42076330	allele_alt	A
chr22:42076330	seqdb_ref	G
chr22:42076330	snp_fw_seq3	CGG/CAG
chr22:42076330	snp_rv_seq3	CCG/CTG
chr22:42076330	func	silent,silent
chr22:42076330	transcript	NM_001003796,NM_005008
chr22:42076330	genomic	.,.
chr22:42076330	codon	.,.
chr22:42076330	protein	.,.
chr22:42076330	worst	silent
chr22:42076330	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42076330	nvar	1
chr22:42076330	var	chr22:42076330:G/A
chr22:42076381	allele_ref	C
chr22:42076381	allele_alt	A
chr22:42076381	seqdb_ref	C
chr22:42076381	snp_fw_seq3	ACA/AAA
chr22:42076381	snp_rv_seq3	TGT/TTT
chr22:42076381	func	intronic,intronic
chr22:42076381	transcript	NM_001003796,NM_005008
chr22:42076381	genomic	.,.
chr22:42076381	codon	.,.
chr22:42076381	protein	.,.
chr22:42076381	worst	intronic
chr22:42076381	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42076381	nvar	1
chr22:42076381	var	chr22:42076381:C/A
chr22:42095725	allele_ref	G
chr22:42095725	allele_alt	A
chr22:42095725	seqdb_ref	G
chr22:42095725	snp_fw_seq3	CGG/CAG
chr22:42095725	snp_rv_seq3	CCG/CTG
chr22:42095725	func	intronic
chr22:42095725	transcript	NM_152513
chr22:42095725	genomic	.
chr22:42095725	codon	.
chr22:42095725	protein	.
chr22:42095725	worst	intronic
chr22:42095725	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42095725	nvar	1
chr22:42095725	var	chr22:42095725:G/A
chr22:42112035	allele_ref	C
chr22:42112035	allele_alt	T
chr22:42112035	seqdb_ref	C
chr22:42112035	snp_fw_seq3	ACT/ATT
chr22:42112035	snp_rv_seq3	AGT/AAT
chr22:42112035	func	intronic
chr22:42112035	transcript	NM_152513
chr22:42112035	genomic	.
chr22:42112035	codon	.
chr22:42112035	protein	.
chr22:42112035	worst	intronic
chr22:42112035	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42112035	nvar	1
chr22:42112035	var	chr22:42112035:C/T
chr22:42114027	allele_ref	G
chr22:42114027	allele_alt	A
chr22:42114027	seqdb_ref	G
chr22:42114027	snp_fw_seq3	AGT/AAT
chr22:42114027	snp_rv_seq3	ACT/ATT
chr22:42114027	func	intronic
chr22:42114027	transcript	NM_152513
chr22:42114027	genomic	.
chr22:42114027	codon	.
chr22:42114027	protein	.
chr22:42114027	worst	intronic
chr22:42114027	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42114027	nvar	1
chr22:42114027	var	chr22:42114027:G/A
chr22:42114122	allele_ref	G
chr22:42114122	allele_alt	T
chr22:42114122	seqdb_ref	G
chr22:42114122	snp_fw_seq3	GGG/GTG
chr22:42114122	snp_rv_seq3	CCC/CAC
chr22:42114122	func	missense
chr22:42114122	transcript	NM_152513
chr22:42114122	genomic	g.577G>T
chr22:42114122	codon	c.577GGC>TGC
chr22:42114122	protein	p.193G>C
chr22:42114122	worst	missense
chr22:42114122	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42114122	nvar	1
chr22:42114122	var	chr22:42114122:G/T
chr22:42114160	allele_ref	A
chr22:42114160	allele_alt	G
chr22:42114160	seqdb_ref	A
chr22:42114160	snp_fw_seq3	TAT/TGT
chr22:42114160	snp_rv_seq3	ATA/ACA
chr22:42114160	func	silent
chr22:42114160	transcript	NM_152513
chr22:42114160	genomic	.
chr22:42114160	codon	.
chr22:42114160	protein	.
chr22:42114160	worst	silent
chr22:42114160	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42114160	nvar	1
chr22:42114160	var	chr22:42114160:A/G
chr22:42120121	allele_ref	G
chr22:42120121	allele_alt	T
chr22:42120121	seqdb_ref	G
chr22:42120121	snp_fw_seq3	GGG/GTG
chr22:42120121	snp_rv_seq3	CCC/CAC
chr22:42120121	func	intronic
chr22:42120121	transcript	NM_152513
chr22:42120121	genomic	.
chr22:42120121	codon	.
chr22:42120121	protein	.
chr22:42120121	worst	intronic
chr22:42120121	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42120121	nvar	1
chr22:42120121	var	chr22:42120121:G/T
chr22:42128461	allele_ref	T
chr22:42128461	allele_alt	A
chr22:42128461	seqdb_ref	T
chr22:42128461	snp_fw_seq3	TTC/TAC
chr22:42128461	snp_rv_seq3	GAA/GTA
chr22:42128461	func	intronic
chr22:42128461	transcript	NM_152513
chr22:42128461	genomic	.
chr22:42128461	codon	.
chr22:42128461	protein	.
chr22:42128461	worst	intronic
chr22:42128461	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42128461	nvar	1
chr22:42128461	var	chr22:42128461:T/A
chr22:42128468	allele_ref	C
chr22:42128468	allele_alt	T
chr22:42128468	seqdb_ref	C
chr22:42128468	snp_fw_seq3	TCT/TTT
chr22:42128468	snp_rv_seq3	AGA/AAA
chr22:42128468	func	intronic,splice
chr22:42128468	annot_details	DIST=-5,NMD=0,OFPTV=0,EXIN=11,ISEQ=TCTCAG,ESEQ=GCAGCC,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS11+-5C>T
chr22:42128468	transcript	NM_152513,NM_152513
chr22:42128468	genomic	.,.
chr22:42128468	codon	.,.
chr22:42128468	protein	.,.
chr22:42128468	worst	splice
chr22:42128468	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42128468	nvar	1
chr22:42128468	var	chr22:42128468:C/T
chr22:42139054	allele_ref	G
chr22:42139054	allele_alt	A
chr22:42139054	seqdb_ref	G
chr22:42139054	snp_fw_seq3	CGT/CAT
chr22:42139054	snp_rv_seq3	ACG/ATG
chr22:42139054	func	intronic
chr22:42139054	transcript	NM_152513
chr22:42139054	genomic	.
chr22:42139054	codon	.
chr22:42139054	protein	.
chr22:42139054	worst	intronic
chr22:42139054	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42139054	nvar	1
chr22:42139054	var	chr22:42139054:G/A
chr22:42139078	allele_ref	A
chr22:42139078	allele_alt	G
chr22:42139078	seqdb_ref	A
chr22:42139078	snp_fw_seq3	GAT/GGT
chr22:42139078	snp_rv_seq3	ATC/ACC
chr22:42139078	func	intronic
chr22:42139078	transcript	NM_152513
chr22:42139078	genomic	.
chr22:42139078	codon	.
chr22:42139078	protein	.
chr22:42139078	worst	intronic
chr22:42139078	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42139078	nvar	1
chr22:42139078	var	chr22:42139078:A/G
chr22:42141949	allele_ref	C
chr22:42141949	allele_alt	T
chr22:42141949	seqdb_ref	C
chr22:42141949	snp_fw_seq3	GCG/GTG
chr22:42141949	snp_rv_seq3	CGC/CAC
chr22:42141949	func	silent
chr22:42141949	transcript	NM_152513
chr22:42141949	genomic	.
chr22:42141949	codon	.
chr22:42141949	protein	.
chr22:42141949	worst	silent
chr22:42141949	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42141949	nvar	1
chr22:42141949	var	chr22:42141949:C/T
chr22:42154380	allele_ref	G
chr22:42154380	allele_alt	A
chr22:42154380	seqdb_ref	G
chr22:42154380	snp_fw_seq3	AGT/AAT
chr22:42154380	snp_rv_seq3	ACT/ATT
chr22:42154380	func	missense
chr22:42154380	transcript	NM_152513
chr22:42154380	genomic	g.1963G>A
chr22:42154380	codon	c.1963GTG>ATG
chr22:42154380	protein	p.655V>M
chr22:42154380	worst	missense
chr22:42154380	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42154380	nvar	1
chr22:42154380	var	chr22:42154380:G/A
chr22:42154386	allele_ref	G
chr22:42154386	allele_alt	C
chr22:42154386	seqdb_ref	G
chr22:42154386	snp_fw_seq3	TGA/TCA
chr22:42154386	snp_rv_seq3	TCA/TGA
chr22:42154386	func	missense
chr22:42154386	transcript	NM_152513
chr22:42154386	genomic	g.1969G>C
chr22:42154386	codon	c.1969GAG>CAG
chr22:42154386	protein	p.657E>Q
chr22:42154386	worst	missense
chr22:42154386	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42154386	nvar	1
chr22:42154386	var	chr22:42154386:G/C
chr22:42154430	allele_ref	T
chr22:42154430	allele_alt	C
chr22:42154430	seqdb_ref	T
chr22:42154430	snp_fw_seq3	CTG/CCG
chr22:42154430	snp_rv_seq3	CAG/CGG
chr22:42154430	func	silent
chr22:42154430	transcript	NM_152513
chr22:42154430	genomic	.
chr22:42154430	codon	.
chr22:42154430	protein	.
chr22:42154430	worst	silent
chr22:42154430	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42154430	nvar	1
chr22:42154430	var	chr22:42154430:T/C
chr22:42154546	allele_ref	A
chr22:42154546	allele_alt	G
chr22:42154546	seqdb_ref	A
chr22:42154546	snp_fw_seq3	CAC/CGC
chr22:42154546	snp_rv_seq3	GTG/GCG
chr22:42154546	func	intronic
chr22:42154546	transcript	NM_152513
chr22:42154546	genomic	.
chr22:42154546	codon	.
chr22:42154546	protein	.
chr22:42154546	worst	intronic
chr22:42154546	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42154546	nvar	1
chr22:42154546	var	chr22:42154546:A/G
chr22:42154579	allele_ref	C
chr22:42154579	allele_alt	A
chr22:42154579	seqdb_ref	C
chr22:42154579	snp_fw_seq3	ACC/AAC
chr22:42154579	snp_rv_seq3	GGT/GTT
chr22:42154579	func	intronic
chr22:42154579	transcript	NM_152513
chr22:42154579	genomic	.
chr22:42154579	codon	.
chr22:42154579	protein	.
chr22:42154579	worst	intronic
chr22:42154579	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42154579	nvar	1
chr22:42154579	var	chr22:42154579:C/A
chr22:42159229	allele_ref	G
chr22:42159229	allele_alt	T
chr22:42159229	seqdb_ref	G
chr22:42159229	snp_fw_seq3	CGC/CTC
chr22:42159229	snp_rv_seq3	GCG/GAG
chr22:42159229	func	silent
chr22:42159229	transcript	NM_152513
chr22:42159229	genomic	.
chr22:42159229	codon	.
chr22:42159229	protein	.
chr22:42159229	worst	silent
chr22:42159229	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42159229	nvar	1
chr22:42159229	var	chr22:42159229:G/T
chr22:42159270	allele_ref	A
chr22:42159270	allele_alt	G
chr22:42159270	seqdb_ref	A
chr22:42159270	snp_fw_seq3	AAA/AGA
chr22:42159270	snp_rv_seq3	TTT/TCT
chr22:42159270	func	missense
chr22:42159270	transcript	NM_152513
chr22:42159270	genomic	g.2213A>G
chr22:42159270	codon	c.2213AAA>AGA
chr22:42159270	protein	p.738K>R
chr22:42159270	worst	missense
chr22:42159270	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42159270	nvar	1
chr22:42159270	var	chr22:42159270:A/G
chr22:42172080	allele_ref	C
chr22:42172080	allele_alt	T
chr22:42172080	seqdb_ref	C
chr22:42172080	snp_fw_seq3	TCT/TTT
chr22:42172080	snp_rv_seq3	AGA/AAA
chr22:42172080	func	intronic
chr22:42172080	transcript	NM_152513
chr22:42172080	genomic	.
chr22:42172080	codon	.
chr22:42172080	protein	.
chr22:42172080	worst	intronic
chr22:42172080	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42172080	nvar	1
chr22:42172080	var	chr22:42172080:C/T
chr22:42172118	allele_ref	T
chr22:42172118	allele_alt	A
chr22:42172118	seqdb_ref	T
chr22:42172118	snp_fw_seq3	TTC/TAC
chr22:42172118	snp_rv_seq3	GAA/GTA
chr22:42172118	func	missense
chr22:42172118	transcript	NM_152513
chr22:42172118	genomic	g.2557T>A
chr22:42172118	codon	c.2557TCC>ACC
chr22:42172118	protein	p.853S>T
chr22:42172118	worst	missense
chr22:42172118	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42172118	nvar	1
chr22:42172118	var	chr22:42172118:T/A
chr22:42174779	allele_ref	A
chr22:42174779	allele_alt	G
chr22:42174779	seqdb_ref	A
chr22:42174779	snp_fw_seq3	AAG/AGG
chr22:42174779	snp_rv_seq3	CTT/CCT
chr22:42174779	func	silent
chr22:42174779	transcript	NM_152513
chr22:42174779	genomic	.
chr22:42174779	codon	.
chr22:42174779	protein	.
chr22:42174779	worst	silent
chr22:42174779	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42174779	nvar	1
chr22:42174779	var	chr22:42174779:A/G
chr22:42177317	allele_ref	A
chr22:42177317	allele_alt	G
chr22:42177317	seqdb_ref	A
chr22:42177317	snp_fw_seq3	CAC/CGC
chr22:42177317	snp_rv_seq3	GTG/GCG
chr22:42177317	func	missense
chr22:42177317	transcript	NM_152513
chr22:42177317	genomic	g.2845A>G
chr22:42177317	codon	c.2845ACT>GCT
chr22:42177317	protein	p.949T>A
chr22:42177317	worst	missense
chr22:42177317	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42177317	nvar	1
chr22:42177317	var	chr22:42177317:A/G
chr22:42177816	allele_ref	C
chr22:42177816	allele_alt	A
chr22:42177816	seqdb_ref	C
chr22:42177816	snp_fw_seq3	CCT/CAT
chr22:42177816	snp_rv_seq3	AGG/ATG
chr22:42177816	func	silent
chr22:42177816	transcript	NM_152513
chr22:42177816	genomic	.
chr22:42177816	codon	.
chr22:42177816	protein	.
chr22:42177816	worst	silent
chr22:42177816	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42177816	nvar	1
chr22:42177816	var	chr22:42177816:C/A
chr22:42177841	allele_ref	A
chr22:42177841	allele_alt	G
chr22:42177841	seqdb_ref	A
chr22:42177841	snp_fw_seq3	CAG/CGG
chr22:42177841	snp_rv_seq3	CTG/CCG
chr22:42177841	func	missense
chr22:42177841	transcript	NM_152513
chr22:42177841	genomic	g.3079A>G
chr22:42177841	codon	c.3079AGT>GGT
chr22:42177841	protein	p.1027S>G
chr22:42177841	worst	missense
chr22:42177841	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42177841	nvar	1
chr22:42177841	var	chr22:42177841:A/G
chr22:42180441	allele_ref	C
chr22:42180441	allele_alt	A
chr22:42180441	seqdb_ref	C
chr22:42180441	snp_fw_seq3	TCT/TAT
chr22:42180441	snp_rv_seq3	AGA/ATA
chr22:42180441	func	intronic
chr22:42180441	transcript	NM_152513
chr22:42180441	genomic	.
chr22:42180441	codon	.
chr22:42180441	protein	.
chr22:42180441	worst	intronic
chr22:42180441	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42180441	nvar	1
chr22:42180441	var	chr22:42180441:C/A
chr22:42180584	allele_ref	T
chr22:42180584	allele_alt	C
chr22:42180584	seqdb_ref	T
chr22:42180584	snp_fw_seq3	ATT/ACT
chr22:42180584	snp_rv_seq3	AAT/AGT
chr22:42180584	func	intronic
chr22:42180584	transcript	NM_152513
chr22:42180584	genomic	.
chr22:42180584	codon	.
chr22:42180584	protein	.
chr22:42180584	worst	intronic
chr22:42180584	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42180584	nvar	1
chr22:42180584	var	chr22:42180584:T/C
chr22:42191540	allele_ref	C
chr22:42191540	allele_alt	T
chr22:42191540	seqdb_ref	C
chr22:42191540	snp_fw_seq3	TCC/TTC
chr22:42191540	snp_rv_seq3	GGA/GAA
chr22:42191540	func	silent
chr22:42191540	transcript	NM_152513
chr22:42191540	genomic	.
chr22:42191540	codon	.
chr22:42191540	protein	.
chr22:42191540	worst	silent
chr22:42191540	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42191540	nvar	1
chr22:42191540	var	chr22:42191540:C/T
chr22:42191844	allele_ref	G
chr22:42191844	allele_alt	T
chr22:42191844	seqdb_ref	G
chr22:42191844	snp_fw_seq3	GGA/GTA
chr22:42191844	snp_rv_seq3	TCC/TAC
chr22:42191844	func	missense
chr22:42191844	transcript	NM_152513
chr22:42191844	genomic	g.3772G>T
chr22:42191844	codon	c.3772GAC>TAC
chr22:42191844	protein	p.1258D>Y
chr22:42191844	worst	missense
chr22:42191844	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42191844	nvar	1
chr22:42191844	var	chr22:42191844:G/T
chr22:42205863	allele_ref	C
chr22:42205863	allele_alt	T
chr22:42205863	seqdb_ref	C
chr22:42205863	snp_fw_seq3	CCT/CTT
chr22:42205863	snp_rv_seq3	AGG/AAG
chr22:42205863	func	intronic
chr22:42205863	transcript	NM_024821
chr22:42205863	genomic	.
chr22:42205863	codon	.
chr22:42205863	protein	.
chr22:42205863	worst	intronic
chr22:42205863	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42205863	nvar	1
chr22:42205863	var	chr22:42205863:C/T
chr22:42205957	allele_ref	C
chr22:42205957	allele_alt	T
chr22:42205957	seqdb_ref	C
chr22:42205957	snp_fw_seq3	CCA/CTA
chr22:42205957	snp_rv_seq3	TGG/TAG
chr22:42205957	func	missense
chr22:42205957	transcript	NM_024821
chr22:42205957	genomic	g.178C>T
chr22:42205957	codon	c.178CAC>TAC
chr22:42205957	protein	p.60H>Y
chr22:42205957	worst	missense
chr22:42205957	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42205957	nvar	1
chr22:42205957	var	chr22:42205957:C/T
chr22:42206303	allele_ref	C
chr22:42206303	allele_alt	T
chr22:42206303	seqdb_ref	C
chr22:42206303	snp_fw_seq3	TCT/TTT
chr22:42206303	snp_rv_seq3	AGA/AAA
chr22:42206303	func	intronic
chr22:42206303	transcript	NM_024821
chr22:42206303	genomic	.
chr22:42206303	codon	.
chr22:42206303	protein	.
chr22:42206303	worst	intronic
chr22:42206303	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42206303	nvar	1
chr22:42206303	var	chr22:42206303:C/T
chr22:42209326	allele_ref	G
chr22:42209326	allele_alt	A
chr22:42209326	seqdb_ref	G
chr22:42209326	snp_fw_seq3	CGA/CAA
chr22:42209326	snp_rv_seq3	TCG/TTG
chr22:42209326	func	silent
chr22:42209326	transcript	NM_024821
chr22:42209326	genomic	.
chr22:42209326	codon	.
chr22:42209326	protein	.
chr22:42209326	worst	silent
chr22:42209326	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42209326	nvar	1
chr22:42209326	var	chr22:42209326:G/A
chr22:42221714	allele_ref	A
chr22:42221714	allele_alt	G
chr22:42221714	seqdb_ref	A
chr22:42221714	snp_fw_seq3	CAC/CGC
chr22:42221714	snp_rv_seq3	GTG/GCG
chr22:42221714	func	missense
chr22:42221714	transcript	NM_024821
chr22:42221714	genomic	g.577A>G
chr22:42221714	codon	c.577ACT>GCT
chr22:42221714	protein	p.193T>A
chr22:42221714	worst	missense
chr22:42221714	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42221714	nvar	1
chr22:42221714	var	chr22:42221714:A/G
chr22:42221846	allele_ref	C
chr22:42221846	allele_alt	T
chr22:42221846	seqdb_ref	C
chr22:42221846	snp_fw_seq3	GCT/GTT
chr22:42221846	snp_rv_seq3	AGC/AAC
chr22:42221846	func	3-UTR
chr22:42221846	transcript	NM_024821
chr22:42221846	genomic	.
chr22:42221846	codon	.
chr22:42221846	protein	.
chr22:42221846	worst	UTR3
chr22:42221846	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:42221846	nvar	1
chr22:42221846	var	chr22:42221846:C/T
chr22:42263050	allele_ref	C
chr22:42263050	allele_alt	G
chr22:42263050	seqdb_ref	C
chr22:42263050	snp_fw_seq3	TCC/TGC
chr22:42263050	snp_rv_seq3	GGA/GCA
chr22:42263050	func	missense
chr22:42263050	transcript	NM_004599
chr22:42263050	genomic	g.304C>G
chr22:42263050	codon	c.304CCC>GCC
chr22:42263050	protein	p.102P>A
chr22:42263050	worst	missense
chr22:42263050	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42263050	nvar	1
chr22:42263050	var	chr22:42263050:C/G
chr22:42263112	allele_ref	C
chr22:42263112	allele_alt	A
chr22:42263112	seqdb_ref	C
chr22:42263112	snp_fw_seq3	CCA/CAA
chr22:42263112	snp_rv_seq3	TGG/TTG
chr22:42263112	func	silent
chr22:42263112	transcript	NM_004599
chr22:42263112	genomic	.
chr22:42263112	codon	.
chr22:42263112	protein	.
chr22:42263112	worst	silent
chr22:42263112	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42263112	nvar	1
chr22:42263112	var	chr22:42263112:C/A
chr22:42264775	allele_ref	G
chr22:42264775	allele_alt	A
chr22:42264775	seqdb_ref	G
chr22:42264775	snp_fw_seq3	CGC/CAC
chr22:42264775	snp_rv_seq3	GCG/GTG
chr22:42264775	func	silent
chr22:42264775	transcript	NM_004599
chr22:42264775	genomic	.
chr22:42264775	codon	.
chr22:42264775	protein	.
chr22:42264775	worst	silent
chr22:42264775	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42264775	nvar	1
chr22:42264775	var	chr22:42264775:G/A
chr22:42271760	allele_ref	A
chr22:42271760	allele_alt	G
chr22:42271760	seqdb_ref	A
chr22:42271760	snp_fw_seq3	GAA/GGA
chr22:42271760	snp_rv_seq3	TTC/TCC
chr22:42271760	func	intronic
chr22:42271760	transcript	NM_004599
chr22:42271760	genomic	.
chr22:42271760	codon	.
chr22:42271760	protein	.
chr22:42271760	worst	intronic
chr22:42271760	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42271760	nvar	1
chr22:42271760	var	chr22:42271760:A/G
chr22:42273462	allele_ref	G
chr22:42273462	allele_alt	A
chr22:42273462	seqdb_ref	G
chr22:42273462	snp_fw_seq3	TGG/TAG
chr22:42273462	snp_rv_seq3	CCA/CTA
chr22:42273462	func	intronic
chr22:42273462	transcript	NM_004599
chr22:42273462	genomic	.
chr22:42273462	codon	.
chr22:42273462	protein	.
chr22:42273462	worst	intronic
chr22:42273462	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42273462	nvar	1
chr22:42273462	var	chr22:42273462:G/A
chr22:42276742	allele_ref	G
chr22:42276742	allele_alt	C
chr22:42276742	seqdb_ref	G
chr22:42276742	snp_fw_seq3	GGC/GCC
chr22:42276742	snp_rv_seq3	GCC/GGC
chr22:42276742	func	missense
chr22:42276742	transcript	NM_004599
chr22:42276742	genomic	g.1784G>C
chr22:42276742	codon	c.1784GGC>GCC
chr22:42276742	protein	p.595G>A
chr22:42276742	worst	missense
chr22:42276742	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42276742	nvar	1
chr22:42276742	var	chr22:42276742:G/C
chr22:42276792	allele_ref	C
chr22:42276792	allele_alt	T
chr22:42276792	seqdb_ref	C
chr22:42276792	snp_fw_seq3	CCG/CTG
chr22:42276792	snp_rv_seq3	CGG/CAG
chr22:42276792	func	missense
chr22:42276792	transcript	NM_004599
chr22:42276792	genomic	g.1834C>T
chr22:42276792	codon	c.1834CGC>TGC
chr22:42276792	protein	p.612R>C
chr22:42276792	worst	missense
chr22:42276792	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42276792	nvar	1
chr22:42276792	var	chr22:42276792:C/T
chr22:42276825	allele_ref	G
chr22:42276825	allele_alt	A
chr22:42276825	seqdb_ref	G
chr22:42276825	snp_fw_seq3	CGT/CAT
chr22:42276825	snp_rv_seq3	ACG/ATG
chr22:42276825	func	missense
chr22:42276825	transcript	NM_004599
chr22:42276825	genomic	g.1867G>A
chr22:42276825	codon	c.1867GTG>ATG
chr22:42276825	protein	p.623V>M
chr22:42276825	worst	missense
chr22:42276825	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42276825	nvar	1
chr22:42276825	var	chr22:42276825:G/A
chr22:42289317	allele_ref	T
chr22:42289317	allele_alt	C
chr22:42289317	seqdb_ref	T
chr22:42289317	snp_fw_seq3	ATT/ACT
chr22:42289317	snp_rv_seq3	AAT/AGT
chr22:42289317	func	intronic
chr22:42289317	transcript	NM_004599
chr22:42289317	genomic	.
chr22:42289317	codon	.
chr22:42289317	protein	.
chr22:42289317	worst	intronic
chr22:42289317	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42289317	nvar	1
chr22:42289317	var	chr22:42289317:T/C
chr22:42293140	allele_ref	G
chr22:42293140	allele_alt	C
chr22:42293140	seqdb_ref	G
chr22:42293140	snp_fw_seq3	GGA/GCA
chr22:42293140	snp_rv_seq3	TCC/TGC
chr22:42293140	func	missense
chr22:42293140	transcript	NM_004599
chr22:42293140	genomic	g.2580G>C
chr22:42293140	codon	c.2580AGG>AGC
chr22:42293140	protein	p.860R>S
chr22:42293140	worst	missense
chr22:42293140	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42293140	nvar	1
chr22:42293140	var	chr22:42293140:G/C
chr22:42293205	allele_ref	G
chr22:42293205	allele_alt	T
chr22:42293205	seqdb_ref	G
chr22:42293205	snp_fw_seq3	AGT/ATT
chr22:42293205	snp_rv_seq3	ACT/AAT
chr22:42293205	func	intronic
chr22:42293205	transcript	NM_004599
chr22:42293205	genomic	.
chr22:42293205	codon	.
chr22:42293205	protein	.
chr22:42293205	worst	intronic
chr22:42293205	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42293205	nvar	1
chr22:42293205	var	chr22:42293205:G/T
chr22:42300948	allele_ref	C
chr22:42300948	allele_alt	A
chr22:42300948	seqdb_ref	C
chr22:42300948	snp_fw_seq3	GCG/GAG
chr22:42300948	snp_rv_seq3	CGC/CTC
chr22:42300948	func	silent
chr22:42300948	transcript	NM_004599
chr22:42300948	genomic	.
chr22:42300948	codon	.
chr22:42300948	protein	.
chr22:42300948	worst	silent
chr22:42300948	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42300948	nvar	1
chr22:42300948	var	chr22:42300948:C/A
chr22:42301014	allele_ref	A
chr22:42301014	allele_alt	G
chr22:42301014	seqdb_ref	A
chr22:42301014	snp_fw_seq3	CAG/CGG
chr22:42301014	snp_rv_seq3	CTG/CCG
chr22:42301014	func	intronic
chr22:42301014	transcript	NM_004599
chr22:42301014	genomic	.
chr22:42301014	codon	.
chr22:42301014	protein	.
chr22:42301014	worst	intronic
chr22:42301014	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42301014	nvar	1
chr22:42301014	var	chr22:42301014:A/G
chr22:42301434	allele_ref	C
chr22:42301434	allele_alt	T
chr22:42301434	seqdb_ref	C
chr22:42301434	snp_fw_seq3	CCT/CTT
chr22:42301434	snp_rv_seq3	AGG/AAG
chr22:42301434	func	intronic
chr22:42301434	transcript	NM_004599
chr22:42301434	genomic	.
chr22:42301434	codon	.
chr22:42301434	protein	.
chr22:42301434	worst	intronic
chr22:42301434	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42301434	nvar	1
chr22:42301434	var	chr22:42301434:C/T
chr22:42321571	allele_ref	G
chr22:42321571	allele_alt	A
chr22:42321571	seqdb_ref	G
chr22:42321571	snp_fw_seq3	GGG/GAG
chr22:42321571	snp_rv_seq3	CCC/CTC
chr22:42321571	func	intronic
chr22:42321571	transcript	NM_052945
chr22:42321571	genomic	.
chr22:42321571	codon	.
chr22:42321571	protein	.
chr22:42321571	worst	intronic
chr22:42321571	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42321571	nvar	1
chr22:42321571	var	chr22:42321571:G/A
chr22:42321591	allele_ref	A
chr22:42321591	allele_alt	G
chr22:42321591	seqdb_ref	A
chr22:42321591	snp_fw_seq3	CAG/CGG
chr22:42321591	snp_rv_seq3	CTG/CCG
chr22:42321591	func	intronic
chr22:42321591	transcript	NM_052945
chr22:42321591	genomic	.
chr22:42321591	codon	.
chr22:42321591	protein	.
chr22:42321591	worst	intronic
chr22:42321591	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42321591	nvar	1
chr22:42321591	var	chr22:42321591:A/G
chr22:42341308	allele_ref	A
chr22:42341308	allele_alt	G
chr22:42341308	seqdb_ref	A
chr22:42341308	snp_fw_seq3	GAC/GGC
chr22:42341308	snp_rv_seq3	GTC/GCC
chr22:42341308	func	silent,splice,silent,splice
chr22:42341308	annot_details	DIST=0,NMD=0,OFPTV=1,EXIN=4,ISEQ=GACCCC,ESEQ=ACCTCT,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS4+0T>C,DIST=0,NMD=0,OFPTV=1,EXIN=4,ISEQ=GACCCC,ESEQ=ACCTCT,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS4+0T>C
chr22:42341308	transcript	NM_001002876,NM_001002876,NM_024053,NM_024053
chr22:42341308	genomic	.,.,.,.
chr22:42341308	codon	.,.,.,.
chr22:42341308	protein	.,.,.,.
chr22:42341308	worst	splice
chr22:42341308	class	mixed,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42341308	nvar	1
chr22:42341308	var	chr22:42341308:A/G
chr22:42341934	allele_ref	A
chr22:42341934	allele_alt	G
chr22:42341934	seqdb_ref	A
chr22:42341934	snp_fw_seq3	GAT/GGT
chr22:42341934	snp_rv_seq3	ATC/ACC
chr22:42341934	func	silent,silent
chr22:42341934	transcript	NM_001002876,NM_024053
chr22:42341934	genomic	.,.
chr22:42341934	codon	.,.
chr22:42341934	protein	.,.
chr22:42341934	worst	silent
chr22:42341934	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42341934	nvar	1
chr22:42341934	var	chr22:42341934:A/G
chr22:42342462	allele_ref	C
chr22:42342462	allele_alt	T
chr22:42342462	seqdb_ref	C
chr22:42342462	snp_fw_seq3	CCG/CTG
chr22:42342462	snp_rv_seq3	CGG/CAG
chr22:42342462	func	silent,silent
chr22:42342462	transcript	NM_001002876,NM_024053
chr22:42342462	genomic	.,.
chr22:42342462	codon	.,.
chr22:42342462	protein	.,.
chr22:42342462	worst	silent
chr22:42342462	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42342462	nvar	1
chr22:42342462	var	chr22:42342462:C/T
chr22:42343017	allele_ref	C
chr22:42343017	allele_alt	T
chr22:42343017	seqdb_ref	C
chr22:42343017	snp_fw_seq3	GCA/GTA
chr22:42343017	snp_rv_seq3	TGC/TAC
chr22:42343017	func	intronic,intronic
chr22:42343017	transcript	NM_001002876,NM_024053
chr22:42343017	genomic	.,.
chr22:42343017	codon	.,.
chr22:42343017	protein	.,.
chr22:42343017	worst	intronic
chr22:42343017	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42343017	nvar	1
chr22:42343017	var	chr22:42343017:C/T
chr22:42343091	allele_ref	G
chr22:42343091	allele_alt	A
chr22:42343091	seqdb_ref	G
chr22:42343091	snp_fw_seq3	AGG/AAG
chr22:42343091	snp_rv_seq3	CCT/CTT
chr22:42343091	func	5-UTR,5-UTR
chr22:42343091	transcript	NM_001002876,NM_024053
chr22:42343091	genomic	.,.
chr22:42343091	codon	.,.
chr22:42343091	protein	.,.
chr22:42343091	worst	UTR5
chr22:42343091	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=2,UTR3=0,npcRNA=0
chr22:42343091	nvar	1
chr22:42343091	var	chr22:42343091:G/A
chr22:42383583	allele_ref	T
chr22:42383583	allele_alt	C
chr22:42383583	seqdb_ref	T
chr22:42383583	snp_fw_seq3	GTC/GCC
chr22:42383583	snp_rv_seq3	GAC/GGC
chr22:42383583	func	intronic,intronic
chr22:42383583	transcript	NM_019106,NM_145733
chr22:42383583	genomic	.,.
chr22:42383583	codon	.,.
chr22:42383583	protein	.,.
chr22:42383583	worst	intronic
chr22:42383583	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42383583	nvar	1
chr22:42383583	var	chr22:42383583:T/C
chr22:42385720	allele_ref	C
chr22:42385720	allele_alt	T
chr22:42385720	seqdb_ref	C
chr22:42385720	snp_fw_seq3	TCC/TTC
chr22:42385720	snp_rv_seq3	GGA/GAA
chr22:42385720	func	intronic,intronic
chr22:42385720	transcript	NM_019106,NM_145733
chr22:42385720	genomic	.,.
chr22:42385720	codon	.,.
chr22:42385720	protein	.,.
chr22:42385720	worst	intronic
chr22:42385720	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42385720	nvar	1
chr22:42385720	var	chr22:42385720:C/T
chr22:42387654	allele_ref	G
chr22:42387654	allele_alt	A
chr22:42387654	seqdb_ref	G
chr22:42387654	snp_fw_seq3	CGG/CAG
chr22:42387654	snp_rv_seq3	CCG/CTG
chr22:42387654	func	silent,silent
chr22:42387654	transcript	NM_019106,NM_145733
chr22:42387654	genomic	.,.
chr22:42387654	codon	.,.
chr22:42387654	protein	.,.
chr22:42387654	worst	silent
chr22:42387654	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42387654	nvar	1
chr22:42387654	var	chr22:42387654:G/A
chr22:42390393	allele_ref	G
chr22:42390393	allele_alt	C
chr22:42390393	seqdb_ref	G
chr22:42390393	snp_fw_seq3	TGG/TCG
chr22:42390393	snp_rv_seq3	CCA/CGA
chr22:42390393	func	intronic,intronic
chr22:42390393	transcript	NM_019106,NM_145733
chr22:42390393	genomic	.,.
chr22:42390393	codon	.,.
chr22:42390393	protein	.,.
chr22:42390393	worst	intronic
chr22:42390393	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42390393	nvar	1
chr22:42390393	var	chr22:42390393:G/C
chr22:42392945	allele_ref	G
chr22:42392945	allele_alt	A
chr22:42392945	seqdb_ref	G
chr22:42392945	snp_fw_seq3	AGC/AAC
chr22:42392945	snp_rv_seq3	GCT/GTT
chr22:42392945	func	3-UTR,missense
chr22:42392945	transcript	NM_019106,NM_145733
chr22:42392945	genomic	.,g.1051G>A
chr22:42392945	codon	.,c.1051GCC>ACC
chr22:42392945	protein	.,p.351A>T
chr22:42392945	worst	missense
chr22:42392945	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:42392945	nvar	1
chr22:42392945	var	chr22:42392945:G/A
chr22:42394785	allele_ref	C
chr22:42394785	allele_alt	T
chr22:42394785	seqdb_ref	C
chr22:42394785	snp_fw_seq3	CCC/CTC
chr22:42394785	snp_rv_seq3	GGG/GAG
chr22:42394785	func	5-UTR
chr22:42394785	transcript	NM_152613
chr22:42394785	genomic	.
chr22:42394785	codon	.
chr22:42394785	protein	.
chr22:42394785	worst	UTR5
chr22:42394785	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:42394785	nvar	1
chr22:42394785	var	chr22:42394785:C/T
chr22:42394835	allele_ref	C
chr22:42394835	allele_alt	G
chr22:42394835	seqdb_ref	C
chr22:42394835	snp_fw_seq3	TCA/TGA
chr22:42394835	snp_rv_seq3	TGA/TCA
chr22:42394835	func	missense
chr22:42394835	transcript	NM_152613
chr22:42394835	genomic	g.13C>G
chr22:42394835	codon	c.13CAG>GAG
chr22:42394835	protein	p.5Q>E
chr22:42394835	worst	missense
chr22:42394835	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42394835	nvar	1
chr22:42394835	var	chr22:42394835:C/G
chr22:42415292	allele_ref	C
chr22:42415292	allele_alt	G
chr22:42415292	seqdb_ref	C
chr22:42415292	snp_fw_seq3	CCG/CGG
chr22:42415292	snp_rv_seq3	CGG/CCG
chr22:42415292	func	intronic
chr22:42415292	transcript	NM_152613
chr22:42415292	genomic	.
chr22:42415292	codon	.
chr22:42415292	protein	.
chr22:42415292	worst	intronic
chr22:42415292	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42415292	nvar	1
chr22:42415292	var	chr22:42415292:C/G
chr22:42415381	allele_ref	T
chr22:42415381	allele_alt	C
chr22:42415381	seqdb_ref	T
chr22:42415381	snp_fw_seq3	TTA/TCA
chr22:42415381	snp_rv_seq3	TAA/TGA
chr22:42415381	func	silent
chr22:42415381	transcript	NM_152613
chr22:42415381	genomic	.
chr22:42415381	codon	.
chr22:42415381	protein	.
chr22:42415381	worst	silent
chr22:42415381	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42415381	nvar	1
chr22:42415381	var	chr22:42415381:T/C
chr22:42416056	allele_ref	A
chr22:42416056	allele_alt	G
chr22:42416056	seqdb_ref	A
chr22:42416056	snp_fw_seq3	GAT/GGT
chr22:42416056	snp_rv_seq3	ATC/ACC
chr22:42416056	func	missense
chr22:42416056	transcript	NM_152613
chr22:42416056	genomic	g.362A>G
chr22:42416056	codon	c.362GAT>GGT
chr22:42416056	protein	p.121D>G
chr22:42416056	worst	missense
chr22:42416056	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42416056	nvar	1
chr22:42416056	var	chr22:42416056:A/G
chr22:42418249	allele_ref	C
chr22:42418249	allele_alt	G
chr22:42418249	seqdb_ref	C
chr22:42418249	snp_fw_seq3	TCC/TGC
chr22:42418249	snp_rv_seq3	GGA/GCA
chr22:42418249	func	intronic,splice
chr22:42418249	annot_details	DIST=-4,NMD=0,OFPTV=1,EXIN=5,ISEQ=TTCCAG,ESEQ=CTGCCC,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS5+-4C>G
chr22:42418249	transcript	NM_152613,NM_152613
chr22:42418249	genomic	.,.
chr22:42418249	codon	.,.
chr22:42418249	protein	.,.
chr22:42418249	worst	splice
chr22:42418249	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42418249	nvar	1
chr22:42418249	var	chr22:42418249:C/G
chr22:42418355	allele_ref	G
chr22:42418355	allele_alt	T
chr22:42418355	seqdb_ref	G
chr22:42418355	snp_fw_seq3	TGT/TTT
chr22:42418355	snp_rv_seq3	ACA/AAA
chr22:42418355	func	missense
chr22:42418355	transcript	NM_152613
chr22:42418355	genomic	g.509G>T
chr22:42418355	codon	c.509TGT>TTT
chr22:42418355	protein	p.170C>F
chr22:42418355	worst	missense
chr22:42418355	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42418355	nvar	1
chr22:42418355	var	chr22:42418355:G/T
chr22:42423110	allele_ref	G
chr22:42423110	allele_alt	C
chr22:42423110	seqdb_ref	G
chr22:42423110	snp_fw_seq3	AGG/ACG
chr22:42423110	snp_rv_seq3	CCT/CGT
chr22:42423110	func	missense
chr22:42423110	transcript	NM_152613
chr22:42423110	genomic	g.855G>C
chr22:42423110	codon	c.855CAG>CAC
chr22:42423110	protein	p.285Q>H
chr22:42423110	worst	missense
chr22:42423110	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42423110	nvar	1
chr22:42423110	var	chr22:42423110:G/C
chr22:42456271	allele_ref	T
chr22:42456271	allele_alt	G
chr22:42456271	seqdb_ref	T
chr22:42456271	snp_fw_seq3	ATG/AGG
chr22:42456271	snp_rv_seq3	CAT/CCT
chr22:42456271	func	3-UTR
chr22:42456271	transcript	NM_000262
chr22:42456271	genomic	.
chr22:42456271	codon	.
chr22:42456271	protein	.
chr22:42456271	worst	UTR3
chr22:42456271	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:42456271	nvar	1
chr22:42456271	var	chr22:42456271:T/G
chr22:42456373	allele_ref	A
chr22:42456373	allele_alt	G
chr22:42456373	seqdb_ref	A
chr22:42456373	snp_fw_seq3	CAT/CGT
chr22:42456373	snp_rv_seq3	ATG/ACG
chr22:42456373	func	silent
chr22:42456373	transcript	NM_000262
chr22:42456373	genomic	.
chr22:42456373	codon	.
chr22:42456373	protein	.
chr22:42456373	worst	silent
chr22:42456373	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42456373	nvar	1
chr22:42456373	var	chr22:42456373:A/G
chr22:42456461	allele_ref	G
chr22:42456461	allele_alt	T
chr22:42456461	seqdb_ref	G
chr22:42456461	snp_fw_seq3	CGG/CTG
chr22:42456461	snp_rv_seq3	CCG/CAG
chr22:42456461	func	intronic
chr22:42456461	transcript	NM_000262
chr22:42456461	genomic	.
chr22:42456461	codon	.
chr22:42456461	protein	.
chr22:42456461	worst	intronic
chr22:42456461	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42456461	nvar	1
chr22:42456461	var	chr22:42456461:G/T
chr22:42461918	allele_ref	G
chr22:42461918	allele_alt	A
chr22:42461918	seqdb_ref	G
chr22:42461918	snp_fw_seq3	GGA/GAA
chr22:42461918	snp_rv_seq3	TCC/TTC
chr22:42461918	func	intronic
chr22:42461918	transcript	NM_000262
chr22:42461918	genomic	.
chr22:42461918	codon	.
chr22:42461918	protein	.
chr22:42461918	worst	intronic
chr22:42461918	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42461918	nvar	1
chr22:42461918	var	chr22:42461918:G/A
chr22:42463814	allele_ref	C
chr22:42463814	allele_alt	T
chr22:42463814	seqdb_ref	C
chr22:42463814	snp_fw_seq3	CCG/CTG
chr22:42463814	snp_rv_seq3	CGG/CAG
chr22:42463814	func	silent
chr22:42463814	transcript	NM_000262
chr22:42463814	genomic	.
chr22:42463814	codon	.
chr22:42463814	protein	.
chr22:42463814	worst	silent
chr22:42463814	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42463814	nvar	1
chr22:42463814	var	chr22:42463814:C/T
chr22:42473288	allele_ref	C
chr22:42473288	allele_alt	T
chr22:42473288	seqdb_ref	C
chr22:42473288	snp_fw_seq3	CCG/CTG
chr22:42473288	snp_rv_seq3	CGG/CAG
chr22:42473288	func	5-UTR,splice
chr22:42473288	annot_details	DIST=4,NMD=0,OFPTV=0,EXIN=3,ISEQ=TCACAG,ESEQ=TTCCCG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS3+4C>T
chr22:42473288	transcript	NM_001002034,NM_001002034
chr22:42473288	genomic	.,.
chr22:42473288	codon	.,.
chr22:42473288	protein	.,.
chr22:42473288	worst	splice
chr22:42473288	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:42473288	nvar	1
chr22:42473288	var	chr22:42473288:C/T
chr22:42473528	allele_ref	C
chr22:42473528	allele_alt	T
chr22:42473528	seqdb_ref	C
chr22:42473528	snp_fw_seq3	CCG/CTG
chr22:42473528	snp_rv_seq3	CGG/CAG
chr22:42473528	func	silent
chr22:42473528	transcript	NM_001002034
chr22:42473528	genomic	.
chr22:42473528	codon	.
chr22:42473528	protein	.
chr22:42473528	worst	silent
chr22:42473528	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42473528	nvar	1
chr22:42473528	var	chr22:42473528:C/T
chr22:42473586	allele_ref	C
chr22:42473586	allele_alt	T
chr22:42473586	seqdb_ref	C
chr22:42473586	snp_fw_seq3	GCG/GTG
chr22:42473586	snp_rv_seq3	CGC/CAC
chr22:42473586	func	missense
chr22:42473586	transcript	NM_001002034
chr22:42473586	genomic	g.289C>T
chr22:42473586	codon	c.289CGC>TGC
chr22:42473586	protein	p.97R>C
chr22:42473586	worst	missense
chr22:42473586	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42473586	nvar	1
chr22:42473586	var	chr22:42473586:C/T
chr22:42473774	allele_ref	C
chr22:42473774	allele_alt	T
chr22:42473774	seqdb_ref	C
chr22:42473774	snp_fw_seq3	CCC/CTC
chr22:42473774	snp_rv_seq3	GGG/GAG
chr22:42473774	func	silent
chr22:42473774	transcript	NM_001002034
chr22:42473774	genomic	.
chr22:42473774	codon	.
chr22:42473774	protein	.
chr22:42473774	worst	silent
chr22:42473774	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42473774	nvar	1
chr22:42473774	var	chr22:42473774:C/T
chr22:42473860	allele_ref	C
chr22:42473860	allele_alt	G
chr22:42473860	seqdb_ref	C
chr22:42473860	snp_fw_seq3	GCG/GGG
chr22:42473860	snp_rv_seq3	CGC/CCC
chr22:42473860	func	missense
chr22:42473860	transcript	NM_001002034
chr22:42473860	genomic	g.563C>G
chr22:42473860	codon	c.563GCG>GGG
chr22:42473860	protein	p.188A>G
chr22:42473860	worst	missense
chr22:42473860	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42473860	nvar	1
chr22:42473860	var	chr22:42473860:C/G
chr22:42474068	allele_ref	T
chr22:42474068	allele_alt	G
chr22:42474068	seqdb_ref	T
chr22:42474068	snp_fw_seq3	ATA/AGA
chr22:42474068	snp_rv_seq3	TAT/TCT
chr22:42474068	func	missense
chr22:42474068	transcript	NM_001002034
chr22:42474068	genomic	g.771T>G
chr22:42474068	codon	c.771GAT>GAG
chr22:42474068	protein	p.257D>E
chr22:42474068	worst	missense
chr22:42474068	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42474068	nvar	1
chr22:42474068	var	chr22:42474068:T/G
chr22:42477884	allele_ref	A
chr22:42477884	allele_alt	G
chr22:42477884	seqdb_ref	A
chr22:42477884	snp_fw_seq3	CAG/CGG
chr22:42477884	snp_rv_seq3	CTG/CCG
chr22:42477884	func	intronic
chr22:42477884	transcript	NM_033318
chr22:42477884	genomic	.
chr22:42477884	codon	.
chr22:42477884	protein	.
chr22:42477884	worst	intronic
chr22:42477884	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42477884	nvar	1
chr22:42477884	var	chr22:42477884:A/G
chr22:42486723	allele_ref	G
chr22:42486723	allele_alt	A
chr22:42486723	seqdb_ref	G
chr22:42486723	snp_fw_seq3	AGC/AAC
chr22:42486723	snp_rv_seq3	GCT/GTT
chr22:42486723	func	missense
chr22:42486723	transcript	NM_002490
chr22:42486723	genomic	g.104G>A
chr22:42486723	codon	c.104GCT>GTT
chr22:42486723	protein	p.35A>V
chr22:42486723	worst	missense
chr22:42486723	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42486723	nvar	1
chr22:42486723	var	chr22:42486723:G/A
chr22:42486789	allele_ref	G
chr22:42486789	allele_alt	A
chr22:42486789	seqdb_ref	G
chr22:42486789	snp_fw_seq3	AGC/AAC
chr22:42486789	snp_rv_seq3	GCT/GTT
chr22:42486789	func	missense
chr22:42486789	transcript	NM_002490
chr22:42486789	genomic	g.38G>A
chr22:42486789	codon	c.38GCT>GTT
chr22:42486789	protein	p.13A>V
chr22:42486789	worst	missense
chr22:42486789	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42486789	nvar	1
chr22:42486789	var	chr22:42486789:G/A
chr22:42522613	allele_ref	G
chr22:42522613	allele_alt	C
chr22:42522613	seqdb_ref	G
chr22:42522613	snp_fw_seq3	GGT/GCT
chr22:42522613	snp_rv_seq3	ACC/AGC
chr22:42522613	func	missense,missense
chr22:42522613	transcript	NM_000106,NM_001025161
chr22:42522613	genomic	g.1457G>C,g.1304G>C
chr22:42522613	codon	c.1457ACC>AGC,c.1304ACC>AGC
chr22:42522613	protein	p.486T>S,p.435T>S
chr22:42522613	worst	missense
chr22:42522613	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42522613	nvar	1
chr22:42522613	var	chr22:42522613:G/C
chr22:42523409	allele_ref	G
chr22:42523409	allele_alt	T
chr22:42523409	seqdb_ref	G
chr22:42523409	snp_fw_seq3	GGG/GTG
chr22:42523409	snp_rv_seq3	CCC/CAC
chr22:42523409	func	intronic,intronic
chr22:42523409	transcript	NM_000106,NM_001025161
chr22:42523409	genomic	.,.
chr22:42523409	codon	.,.
chr22:42523409	protein	.,.
chr22:42523409	worst	intronic
chr22:42523409	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42523409	nvar	1
chr22:42523409	var	chr22:42523409:G/T
chr22:42523610	allele_ref	C
chr22:42523610	allele_alt	T
chr22:42523610	seqdb_ref	C
chr22:42523610	snp_fw_seq3	ACG/ATG
chr22:42523610	snp_rv_seq3	CGT/CAT
chr22:42523610	func	missense,missense
chr22:42523610	transcript	NM_000106,NM_001025161
chr22:42523610	genomic	g.1012C>T,g.859C>T
chr22:42523610	codon	c.1012GTG>ATG,c.859GTG>ATG
chr22:42523610	protein	p.338V>M,p.287V>M
chr22:42523610	worst	missense
chr22:42523610	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42523610	nvar	1
chr22:42523610	var	chr22:42523610:C/T
chr22:42523805	allele_ref	C
chr22:42523805	allele_alt	T
chr22:42523805	seqdb_ref	C
chr22:42523805	snp_fw_seq3	TCC/TTC
chr22:42523805	snp_rv_seq3	GGA/GAA
chr22:42523805	func	intronic,intronic
chr22:42523805	transcript	NM_000106,NM_001025161
chr22:42523805	genomic	.,.
chr22:42523805	codon	.,.
chr22:42523805	protein	.,.
chr22:42523805	worst	intronic
chr22:42523805	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42523805	nvar	1
chr22:42523805	var	chr22:42523805:C/T
chr22:42523872	allele_ref	C
chr22:42523872	allele_alt	T
chr22:42523872	seqdb_ref	C
chr22:42523872	snp_fw_seq3	GCA/GTA
chr22:42523872	snp_rv_seq3	TGC/TAC
chr22:42523872	func	silent,silent
chr22:42523872	transcript	NM_000106,NM_001025161
chr22:42523872	genomic	.,.
chr22:42523872	codon	.,.
chr22:42523872	protein	.,.
chr22:42523872	worst	silent
chr22:42523872	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42523872	nvar	1
chr22:42523872	var	chr22:42523872:C/T
chr22:42523896	allele_ref	C
chr22:42523896	allele_alt	T
chr22:42523896	seqdb_ref	C
chr22:42523896	snp_fw_seq3	TCG/TTG
chr22:42523896	snp_rv_seq3	CGA/CAA
chr22:42523896	func	silent,silent
chr22:42523896	transcript	NM_000106,NM_001025161
chr22:42523896	genomic	.,.
chr22:42523896	codon	.,.
chr22:42523896	protein	.,.
chr22:42523896	worst	silent
chr22:42523896	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42523896	nvar	1
chr22:42523896	var	chr22:42523896:C/T
chr22:42523943	allele_ref	A
chr22:42523943	allele_alt	G
chr22:42523943	seqdb_ref	A
chr22:42523943	snp_fw_seq3	CAC/CGC
chr22:42523943	snp_rv_seq3	GTG/GCG
chr22:42523943	func	missense,missense
chr22:42523943	transcript	NM_000106,NM_001025161
chr22:42523943	genomic	g.886A>G,g.733A>G
chr22:42523943	codon	c.886TGC>CGC,c.733TGC>CGC
chr22:42523943	protein	p.296C>R,p.245C>R
chr22:42523943	worst	missense
chr22:42523943	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42523943	nvar	1
chr22:42523943	var	chr22:42523943:A/G
chr22:42525132	allele_ref	G
chr22:42525132	allele_alt	C
chr22:42525132	seqdb_ref	G
chr22:42525132	snp_fw_seq3	AGA/ACA
chr22:42525132	snp_rv_seq3	TCT/TGT
chr22:42525132	func	silent,intronic
chr22:42525132	transcript	NM_000106,NM_001025161
chr22:42525132	genomic	.,.
chr22:42525132	codon	.,.
chr22:42525132	protein	.,.
chr22:42525132	worst	silent
chr22:42525132	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42525132	nvar	1
chr22:42525132	var	chr22:42525132:G/C
chr22:42525134	allele_ref	C
chr22:42525134	allele_alt	T
chr22:42525134	seqdb_ref	C
chr22:42525134	snp_fw_seq3	ACG/ATG
chr22:42525134	snp_rv_seq3	CGT/CAT
chr22:42525134	func	missense,intronic
chr22:42525134	transcript	NM_000106,NM_001025161
chr22:42525134	genomic	g.406C>T,.
chr22:42525134	codon	c.406GTC>ATC,.
chr22:42525134	protein	p.136V>I,.
chr22:42525134	worst	missense
chr22:42525134	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42525134	nvar	1
chr22:42525134	var	chr22:42525134:C/T
chr22:42525728	allele_ref	A
chr22:42525728	allele_alt	C
chr22:42525728	seqdb_ref	A
chr22:42525728	snp_fw_seq3	CAC/CCC
chr22:42525728	snp_rv_seq3	GTG/GGG
chr22:42525728	func	intronic,intronic
chr22:42525728	transcript	NM_000106,NM_001025161
chr22:42525728	genomic	.,.
chr22:42525728	codon	.,.
chr22:42525728	protein	.,.
chr22:42525728	worst	intronic
chr22:42525728	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42525728	nvar	1
chr22:42525728	var	chr22:42525728:A/C
chr22:42525756	allele_ref	G
chr22:42525756	allele_alt	A
chr22:42525756	seqdb_ref	G
chr22:42525756	snp_fw_seq3	CGA/CAA
chr22:42525756	snp_rv_seq3	TCG/TTG
chr22:42525756	func	silent,silent
chr22:42525756	transcript	NM_000106,NM_001025161
chr22:42525756	genomic	.,.
chr22:42525756	codon	.,.
chr22:42525756	protein	.,.
chr22:42525756	worst	silent
chr22:42525756	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42525756	nvar	1
chr22:42525756	var	chr22:42525756:G/A
chr22:42525772	allele_ref	G
chr22:42525772	allele_alt	A
chr22:42525772	seqdb_ref	G
chr22:42525772	snp_fw_seq3	GGT/GAT
chr22:42525772	snp_rv_seq3	ACC/ATC
chr22:42525772	func	missense,missense
chr22:42525772	transcript	NM_000106,NM_001025161
chr22:42525772	genomic	g.320G>A,g.320G>A
chr22:42525772	codon	c.320ACC>ATC,c.320ACC>ATC
chr22:42525772	protein	p.107T>I,p.107T>I
chr22:42525772	worst	missense
chr22:42525772	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42525772	nvar	1
chr22:42525772	var	chr22:42525772:G/A
chr22:42525952	allele_ref	C
chr22:42525952	allele_alt	A
chr22:42525952	seqdb_ref	C
chr22:42525952	snp_fw_seq3	CCC/CAC
chr22:42525952	snp_rv_seq3	GGG/GTG
chr22:42525952	func	intronic,intronic
chr22:42525952	transcript	NM_000106,NM_001025161
chr22:42525952	genomic	.,.
chr22:42525952	codon	.,.
chr22:42525952	protein	.,.
chr22:42525952	worst	intronic
chr22:42525952	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42525952	nvar	1
chr22:42525952	var	chr22:42525952:C/A
chr22:42557363	allele_ref	A
chr22:42557363	allele_alt	G
chr22:42557363	seqdb_ref	A
chr22:42557363	snp_fw_seq3	CAC/CGC
chr22:42557363	snp_rv_seq3	GTG/GCG
chr22:42557363	func	3-UTR,splice,splice,missense
chr22:42557363	annot_details	DIST=-1,NMD=0,OFPTV=1,EXIN=5,ISEQ=GACCTT,ESEQ=AGAGTG,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS5+-1T>C,DIST=-1,NMD=0,OFPTV=1,EXIN=4,ISEQ=GACCTT,ESEQ=AGAGTG,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS4+-1T>C
chr22:42557363	transcript	NM_005650,NM_005650,NM_181492,NM_181492
chr22:42557363	genomic	.,.,.,g.5801A>G
chr22:42557363	codon	.,.,.,c.5801GTG>GCG
chr22:42557363	protein	.,.,.,p.1934V>A
chr22:42557363	worst	missense
chr22:42557363	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:42557363	nvar	1
chr22:42557363	var	chr22:42557363:A/G
chr22:42565950	allele_ref	T
chr22:42565950	allele_alt	C
chr22:42565950	seqdb_ref	T
chr22:42565950	snp_fw_seq3	ATA/ACA
chr22:42565950	snp_rv_seq3	TAT/TGT
chr22:42565950	func	intronic,intronic
chr22:42565950	transcript	NM_005650,NM_181492
chr22:42565950	genomic	.,.
chr22:42565950	codon	.,.
chr22:42565950	protein	.,.
chr22:42565950	worst	intronic
chr22:42565950	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42565950	nvar	1
chr22:42565950	var	chr22:42565950:T/C
chr22:42606257	allele_ref	C
chr22:42606257	allele_alt	T
chr22:42606257	seqdb_ref	C
chr22:42606257	snp_fw_seq3	ACG/ATG
chr22:42606257	snp_rv_seq3	CGT/CAT
chr22:42606257	func	silent,silent
chr22:42606257	transcript	NM_005650,NM_181492
chr22:42606257	genomic	.,.
chr22:42606257	codon	.,.
chr22:42606257	protein	.,.
chr22:42606257	worst	silent
chr22:42606257	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42606257	nvar	1
chr22:42606257	var	chr22:42606257:C/T
chr22:42607338	allele_ref	C
chr22:42607338	allele_alt	T
chr22:42607338	seqdb_ref	C
chr22:42607338	snp_fw_seq3	ACT/ATT
chr22:42607338	snp_rv_seq3	AGT/AAT
chr22:42607338	func	missense,missense
chr22:42607338	transcript	NM_005650,NM_181492
chr22:42607338	genomic	g.3974C>T,g.3974C>T
chr22:42607338	codon	c.3974AGT>AAT,c.3974AGT>AAT
chr22:42607338	protein	p.1325S>N,p.1325S>N
chr22:42607338	worst	missense
chr22:42607338	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42607338	nvar	1
chr22:42607338	var	chr22:42607338:C/T
chr22:42607817	allele_ref	C
chr22:42607817	allele_alt	T
chr22:42607817	seqdb_ref	C
chr22:42607817	snp_fw_seq3	ACA/ATA
chr22:42607817	snp_rv_seq3	TGT/TAT
chr22:42607817	func	missense,missense
chr22:42607817	transcript	NM_005650,NM_181492
chr22:42607817	genomic	g.3495C>T,g.3495C>T
chr22:42607817	codon	c.3495ATG>ATA,c.3495ATG>ATA
chr22:42607817	protein	p.1165M>I,p.1165M>I
chr22:42607817	worst	missense
chr22:42607817	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42607817	nvar	1
chr22:42607817	var	chr22:42607817:C/T
chr22:42609148	allele_ref	T
chr22:42609148	allele_alt	C
chr22:42609148	seqdb_ref	T
chr22:42609148	snp_fw_seq3	CTG/CCG
chr22:42609148	snp_rv_seq3	CAG/CGG
chr22:42609148	func	missense,missense
chr22:42609148	transcript	NM_005650,NM_181492
chr22:42609148	genomic	g.2164T>C,g.2164T>C
chr22:42609148	codon	c.2164AGT>GGT,c.2164AGT>GGT
chr22:42609148	protein	p.722S>G,p.722S>G
chr22:42609148	worst	missense
chr22:42609148	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42609148	nvar	1
chr22:42609148	var	chr22:42609148:T/C
chr22:42609858	allele_ref	G
chr22:42609858	allele_alt	T
chr22:42609858	seqdb_ref	G
chr22:42609858	snp_fw_seq3	GGT/GTT
chr22:42609858	snp_rv_seq3	ACC/AAC
chr22:42609858	func	missense,missense
chr22:42609858	transcript	NM_005650,NM_181492
chr22:42609858	genomic	g.1454G>T,g.1454G>T
chr22:42609858	codon	c.1454ACC>AAC,c.1454ACC>AAC
chr22:42609858	protein	p.485T>N,p.485T>N
chr22:42609858	worst	missense
chr22:42609858	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42609858	nvar	1
chr22:42609858	var	chr22:42609858:G/T
chr22:42609872	allele_ref	A
chr22:42609872	allele_alt	C
chr22:42609872	seqdb_ref	A
chr22:42609872	snp_fw_seq3	GAG/GCG
chr22:42609872	snp_rv_seq3	CTC/CGC
chr22:42609872	func	silent,silent
chr22:42609872	transcript	NM_005650,NM_181492
chr22:42609872	genomic	.,.
chr22:42609872	codon	.,.
chr22:42609872	protein	.,.
chr22:42609872	worst	silent
chr22:42609872	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42609872	nvar	1
chr22:42609872	var	chr22:42609872:A/C
chr22:42610099	allele_ref	T
chr22:42610099	allele_alt	C
chr22:42610099	seqdb_ref	T
chr22:42610099	snp_fw_seq3	ATA/ACA
chr22:42610099	snp_rv_seq3	TAT/TGT
chr22:42610099	func	missense,missense
chr22:42610099	transcript	NM_005650,NM_181492
chr22:42610099	genomic	g.1213T>C,g.1213T>C
chr22:42610099	codon	c.1213ATG>GTG,c.1213ATG>GTG
chr22:42610099	protein	p.405M>V,p.405M>V
chr22:42610099	worst	missense
chr22:42610099	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42610099	nvar	1
chr22:42610099	var	chr22:42610099:T/C
chr22:42611108	allele_ref	C
chr22:42611108	allele_alt	T
chr22:42611108	seqdb_ref	C
chr22:42611108	snp_fw_seq3	TCg/TTg
chr22:42611108	snp_rv_seq3	cGA/cAA
chr22:42611108	func	silent,silent
chr22:42611108	transcript	NM_005650,NM_181492
chr22:42611108	genomic	.,.
chr22:42611108	codon	.,.
chr22:42611108	protein	.,.
chr22:42611108	worst	silent
chr22:42611108	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42611108	nvar	1
chr22:42611108	var	chr22:42611108:C/T
chr22:42611115	allele_ref	G
chr22:42611115	allele_alt	A
chr22:42611115	seqdb_ref	g
chr22:42611115	snp_fw_seq3	cgc/cAc
chr22:42611115	snp_rv_seq3	gcg/gTg
chr22:42611115	func	missense,missense
chr22:42611115	transcript	NM_005650,NM_181492
chr22:42611115	genomic	g.197G>A,g.197G>A
chr22:42611115	codon	c.197GCG>GTG,c.197GCG>GTG
chr22:42611115	protein	p.66A>V,p.66A>V
chr22:42611115	worst	missense
chr22:42611115	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42611115	nvar	1
chr22:42611115	var	chr22:42611115:G/A
chr22:42611174	allele_ref	G
chr22:42611174	allele_alt	A
chr22:42611174	seqdb_ref	g
chr22:42611174	snp_fw_seq3	tgc/tAc
chr22:42611174	snp_rv_seq3	gca/gTa
chr22:42611174	func	silent,silent
chr22:42611174	transcript	NM_005650,NM_181492
chr22:42611174	genomic	.,.
chr22:42611174	codon	.,.
chr22:42611174	protein	.,.
chr22:42611174	worst	silent
chr22:42611174	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42611174	nvar	1
chr22:42611174	var	chr22:42611174:G/A
chr22:42781187	allele_ref	G
chr22:42781187	allele_alt	A
chr22:42781187	seqdb_ref	G
chr22:42781187	snp_fw_seq3	AGG/AAG
chr22:42781187	snp_rv_seq3	CCT/CTT
chr22:42781187	func	silent
chr22:42781187	transcript	NM_145912
chr22:42781187	genomic	.
chr22:42781187	codon	.
chr22:42781187	protein	.
chr22:42781187	worst	silent
chr22:42781187	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42781187	nvar	1
chr22:42781187	var	chr22:42781187:G/A
chr22:42781200	allele_ref	A
chr22:42781200	allele_alt	G
chr22:42781200	seqdb_ref	A
chr22:42781200	snp_fw_seq3	CAT/CGT
chr22:42781200	snp_rv_seq3	ATG/ACG
chr22:42781200	func	silent
chr22:42781200	transcript	NM_145912
chr22:42781200	genomic	.
chr22:42781200	codon	.
chr22:42781200	protein	.
chr22:42781200	worst	silent
chr22:42781200	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42781200	nvar	1
chr22:42781200	var	chr22:42781200:A/G
chr22:42781219	allele_ref	G
chr22:42781219	allele_alt	A
chr22:42781219	seqdb_ref	G
chr22:42781219	snp_fw_seq3	CGG/CAG
chr22:42781219	snp_rv_seq3	CCG/CTG
chr22:42781219	func	missense
chr22:42781219	transcript	NM_145912
chr22:42781219	genomic	g.761G>A
chr22:42781219	codon	c.761CCG>CTG
chr22:42781219	protein	p.254P>L
chr22:42781219	worst	missense
chr22:42781219	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42781219	nvar	1
chr22:42781219	var	chr22:42781219:G/A
chr22:42783019	allele_ref	G
chr22:42783019	allele_alt	A
chr22:42783019	seqdb_ref	G
chr22:42783019	snp_fw_seq3	CGG/CAG
chr22:42783019	snp_rv_seq3	CCG/CTG
chr22:42783019	func	silent
chr22:42783019	transcript	NM_145912
chr22:42783019	genomic	.
chr22:42783019	codon	.
chr22:42783019	protein	.
chr22:42783019	worst	silent
chr22:42783019	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42783019	nvar	1
chr22:42783019	var	chr22:42783019:G/A
chr22:42783070	allele_ref	G
chr22:42783070	allele_alt	A
chr22:42783070	seqdb_ref	G
chr22:42783070	snp_fw_seq3	CGC/CAC
chr22:42783070	snp_rv_seq3	GCG/GTG
chr22:42783070	func	silent
chr22:42783070	transcript	NM_145912
chr22:42783070	genomic	.
chr22:42783070	codon	.
chr22:42783070	protein	.
chr22:42783070	worst	silent
chr22:42783070	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42783070	nvar	1
chr22:42783070	var	chr22:42783070:G/A
chr22:42783130	allele_ref	G
chr22:42783130	allele_alt	T
chr22:42783130	seqdb_ref	G
chr22:42783130	snp_fw_seq3	GGC/GTC
chr22:42783130	snp_rv_seq3	GCC/GAC
chr22:42783130	func	intronic
chr22:42783130	transcript	NM_145912
chr22:42783130	genomic	.
chr22:42783130	codon	.
chr22:42783130	protein	.
chr22:42783130	worst	intronic
chr22:42783130	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42783130	nvar	1
chr22:42783130	var	chr22:42783130:G/T
chr22:42793845	allele_ref	C
chr22:42793845	allele_alt	T
chr22:42793845	seqdb_ref	C
chr22:42793845	snp_fw_seq3	CCG/CTG
chr22:42793845	snp_rv_seq3	CGG/CAG
chr22:42793845	func	intronic
chr22:42793845	transcript	NM_145912
chr22:42793845	genomic	.
chr22:42793845	codon	.
chr22:42793845	protein	.
chr22:42793845	worst	intronic
chr22:42793845	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42793845	nvar	1
chr22:42793845	var	chr22:42793845:C/T
chr22:42793873	allele_ref	A
chr22:42793873	allele_alt	G
chr22:42793873	seqdb_ref	A
chr22:42793873	snp_fw_seq3	CAG/CGG
chr22:42793873	snp_rv_seq3	CTG/CCG
chr22:42793873	func	silent
chr22:42793873	transcript	NM_145912
chr22:42793873	genomic	.
chr22:42793873	codon	.
chr22:42793873	protein	.
chr22:42793873	worst	silent
chr22:42793873	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42793873	nvar	1
chr22:42793873	var	chr22:42793873:A/G
chr22:42805444	allele_ref	G
chr22:42805444	allele_alt	C
chr22:42805444	seqdb_ref	G
chr22:42805444	snp_fw_seq3	TGT/TCT
chr22:42805444	snp_rv_seq3	ACA/AGA
chr22:42805444	func	splice,missense
chr22:42805444	annot_details	DIST=-3,NMD=0,OFPTV=1,EXIN=3,ISEQ=GGCATG,ESEQ=GAACAA,SPLICE_TYPE=donor,ALT=G,HGVS=c.IVS3+-3C>G
chr22:42805444	transcript	NM_145912,NM_145912
chr22:42805444	genomic	.,g.561G>C
chr22:42805444	codon	.,c.561AAC>AAG
chr22:42805444	protein	.,p.187N>K
chr22:42805444	worst	missense
chr22:42805444	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42805444	nvar	1
chr22:42805444	var	chr22:42805444:G/C
chr22:42807401	allele_ref	A
chr22:42807401	allele_alt	G
chr22:42807401	seqdb_ref	A
chr22:42807401	snp_fw_seq3	GAG/GGG
chr22:42807401	snp_rv_seq3	CTC/CCC
chr22:42807401	func	intronic
chr22:42807401	transcript	NM_145912
chr22:42807401	genomic	.
chr22:42807401	codon	.
chr22:42807401	protein	.
chr22:42807401	worst	intronic
chr22:42807401	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42807401	nvar	1
chr22:42807401	var	chr22:42807401:A/G
chr22:42807455	allele_ref	G
chr22:42807455	allele_alt	A
chr22:42807455	seqdb_ref	G
chr22:42807455	snp_fw_seq3	TGT/TAT
chr22:42807455	snp_rv_seq3	ACA/ATA
chr22:42807455	func	missense
chr22:42807455	transcript	NM_145912
chr22:42807455	genomic	g.409G>A
chr22:42807455	codon	c.409CAC>TAC
chr22:42807455	protein	p.137H>Y
chr22:42807455	worst	missense
chr22:42807455	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42807455	nvar	1
chr22:42807455	var	chr22:42807455:G/A
chr22:42908976	allele_ref	G
chr22:42908976	allele_alt	A
chr22:42908976	seqdb_ref	G
chr22:42908976	snp_fw_seq3	CGA/CAA
chr22:42908976	snp_rv_seq3	TCG/TTG
chr22:42908976	func	silent
chr22:42908976	transcript	NM_015703
chr22:42908976	genomic	.
chr22:42908976	codon	.
chr22:42908976	protein	.
chr22:42908976	worst	silent
chr22:42908976	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42908976	nvar	1
chr22:42908976	var	chr22:42908976:G/A
chr22:42910142	allele_ref	C
chr22:42910142	allele_alt	T
chr22:42910142	seqdb_ref	C
chr22:42910142	snp_fw_seq3	GCG/GTG
chr22:42910142	snp_rv_seq3	CGC/CAC
chr22:42910142	func	missense
chr22:42910142	transcript	NM_015703
chr22:42910142	genomic	g.727C>T
chr22:42910142	codon	c.727GCC>ACC
chr22:42910142	protein	p.243A>T
chr22:42910142	worst	missense
chr22:42910142	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42910142	nvar	1
chr22:42910142	var	chr22:42910142:C/T
chr22:42910760	allele_ref	A
chr22:42910760	allele_alt	G
chr22:42910760	seqdb_ref	A
chr22:42910760	snp_fw_seq3	CAG/CGG
chr22:42910760	snp_rv_seq3	CTG/CCG
chr22:42910760	func	silent
chr22:42910760	transcript	NM_015703
chr22:42910760	genomic	.
chr22:42910760	codon	.
chr22:42910760	protein	.
chr22:42910760	worst	silent
chr22:42910760	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42910760	nvar	1
chr22:42910760	var	chr22:42910760:A/G
chr22:42911257	allele_ref	A
chr22:42911257	allele_alt	G
chr22:42911257	seqdb_ref	A
chr22:42911257	snp_fw_seq3	CAT/CGT
chr22:42911257	snp_rv_seq3	ATG/ACG
chr22:42911257	func	silent
chr22:42911257	transcript	NM_015703
chr22:42911257	genomic	.
chr22:42911257	codon	.
chr22:42911257	protein	.
chr22:42911257	worst	silent
chr22:42911257	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42911257	nvar	1
chr22:42911257	var	chr22:42911257:A/G
chr22:42912029	allele_ref	G
chr22:42912029	allele_alt	T
chr22:42912029	seqdb_ref	G
chr22:42912029	snp_fw_seq3	TGG/TTG
chr22:42912029	snp_rv_seq3	CCA/CAA
chr22:42912029	func	silent
chr22:42912029	transcript	NM_015703
chr22:42912029	genomic	.
chr22:42912029	codon	.
chr22:42912029	protein	.
chr22:42912029	worst	silent
chr22:42912029	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42912029	nvar	1
chr22:42912029	var	chr22:42912029:G/T
chr22:42912097	allele_ref	C
chr22:42912097	allele_alt	T
chr22:42912097	seqdb_ref	C
chr22:42912097	snp_fw_seq3	ACA/ATA
chr22:42912097	snp_rv_seq3	TGT/TAT
chr22:42912097	func	missense
chr22:42912097	transcript	NM_015703
chr22:42912097	genomic	g.262C>T
chr22:42912097	codon	c.262GTA>ATA
chr22:42912097	protein	p.88V>I
chr22:42912097	worst	missense
chr22:42912097	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42912097	nvar	1
chr22:42912097	var	chr22:42912097:C/T
chr22:42912106	allele_ref	C
chr22:42912106	allele_alt	T
chr22:42912106	seqdb_ref	C
chr22:42912106	snp_fw_seq3	ACG/ATG
chr22:42912106	snp_rv_seq3	CGT/CAT
chr22:42912106	func	missense
chr22:42912106	transcript	NM_015703
chr22:42912106	genomic	g.253C>T
chr22:42912106	codon	c.253GTC>ATC
chr22:42912106	protein	p.85V>I
chr22:42912106	worst	missense
chr22:42912106	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42912106	nvar	1
chr22:42912106	var	chr22:42912106:C/T
chr22:42912136	allele_ref	G
chr22:42912136	allele_alt	T
chr22:42912136	seqdb_ref	G
chr22:42912136	snp_fw_seq3	AGG/ATG
chr22:42912136	snp_rv_seq3	CCT/CAT
chr22:42912136	func	missense
chr22:42912136	transcript	NM_015703
chr22:42912136	genomic	g.223G>T
chr22:42912136	codon	c.223CTG>ATG
chr22:42912136	protein	p.75L>M
chr22:42912136	worst	missense
chr22:42912136	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42912136	nvar	1
chr22:42912136	var	chr22:42912136:G/T
chr22:42914084	allele_ref	C
chr22:42914084	allele_alt	T
chr22:42914084	seqdb_ref	C
chr22:42914084	snp_fw_seq3	TCG/TTG
chr22:42914084	snp_rv_seq3	CGA/CAA
chr22:42914084	func	missense
chr22:42914084	transcript	NM_015703
chr22:42914084	genomic	g.143C>T
chr22:42914084	codon	c.143CGA>CAA
chr22:42914084	protein	p.48R>Q
chr22:42914084	worst	missense
chr22:42914084	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42914084	nvar	1
chr22:42914084	var	chr22:42914084:C/T
chr22:42950055	allele_ref	C
chr22:42950055	allele_alt	T
chr22:42950055	seqdb_ref	C
chr22:42950055	snp_fw_seq3	ACG/ATG
chr22:42950055	snp_rv_seq3	CGT/CAT
chr22:42950055	func	intronic
chr22:42950055	transcript	NM_014509
chr22:42950055	genomic	.
chr22:42950055	codon	.
chr22:42950055	protein	.
chr22:42950055	worst	intronic
chr22:42950055	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42950055	nvar	1
chr22:42950055	var	chr22:42950055:C/T
chr22:42956189	allele_ref	C
chr22:42956189	allele_alt	T
chr22:42956189	seqdb_ref	C
chr22:42956189	snp_fw_seq3	CCA/CTA
chr22:42956189	snp_rv_seq3	TGG/TAG
chr22:42956189	func	intronic,splice
chr22:42956189	annot_details	DIST=-3,NMD=0,OFPTV=0,EXIN=8,ISEQ=CCCCAG,ESEQ=GTTACT,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS8+-3C>T
chr22:42956189	transcript	NM_014509,NM_014509
chr22:42956189	genomic	.,.
chr22:42956189	codon	.,.
chr22:42956189	protein	.,.
chr22:42956189	worst	splice
chr22:42956189	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42956189	nvar	1
chr22:42956189	var	chr22:42956189:C/T
chr22:42956211	allele_ref	C
chr22:42956211	allele_alt	T
chr22:42956211	seqdb_ref	C
chr22:42956211	snp_fw_seq3	CCA/CTA
chr22:42956211	snp_rv_seq3	TGG/TAG
chr22:42956211	func	missense
chr22:42956211	transcript	NM_014509
chr22:42956211	genomic	g.553C>T
chr22:42956211	codon	c.553CAC>TAC
chr22:42956211	protein	p.185H>Y
chr22:42956211	worst	missense
chr22:42956211	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42956211	nvar	1
chr22:42956211	var	chr22:42956211:C/T
chr22:42956273	allele_ref	T
chr22:42956273	allele_alt	A
chr22:42956273	seqdb_ref	T
chr22:42956273	snp_fw_seq3	GTA/GAA
chr22:42956273	snp_rv_seq3	TAC/TTC
chr22:42956273	func	intronic,splice-donor-in2
chr22:42956273	annot_details	DIST=2,NMD=0,OFPTV=0,EXIN=8,ISEQ=GTAAGG,ESEQ=CCACAG,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS8+2T>A
chr22:42956273	transcript	NM_014509,NM_014509
chr22:42956273	genomic	.,.
chr22:42956273	codon	.,.
chr22:42956273	protein	.,.
chr22:42956273	worst	esplice
chr22:42956273	class	esplice,NON=0,SL=0,MIS=0,SYN=0,ESPL=1,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42956273	nvar	1
chr22:42956273	var	chr22:42956273:T/A
chr22:42962329	allele_ref	C
chr22:42962329	allele_alt	T
chr22:42962329	seqdb_ref	C
chr22:42962329	snp_fw_seq3	ACC/ATC
chr22:42962329	snp_rv_seq3	GGT/GAT
chr22:42962329	func	silent
chr22:42962329	transcript	NM_014509
chr22:42962329	genomic	.
chr22:42962329	codon	.
chr22:42962329	protein	.
chr22:42962329	worst	silent
chr22:42962329	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42962329	nvar	1
chr22:42962329	var	chr22:42962329:C/T
chr22:42967235	allele_ref	C
chr22:42967235	allele_alt	T
chr22:42967235	seqdb_ref	C
chr22:42967235	snp_fw_seq3	GCC/GTC
chr22:42967235	snp_rv_seq3	GGC/GAC
chr22:42967235	func	intronic
chr22:42967235	transcript	NM_014509
chr22:42967235	genomic	.
chr22:42967235	codon	.
chr22:42967235	protein	.
chr22:42967235	worst	intronic
chr22:42967235	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42967235	nvar	1
chr22:42967235	var	chr22:42967235:C/T
chr22:42968536	allele_ref	G
chr22:42968536	allele_alt	A
chr22:42968536	seqdb_ref	G
chr22:42968536	snp_fw_seq3	GGT/GAT
chr22:42968536	snp_rv_seq3	ACC/ATC
chr22:42968536	func	intronic,splice-donor-in2
chr22:42968536	annot_details	DIST=1,NMD=0,OFPTV=1,EXIN=11,ISEQ=GTAAGA,ESEQ=AAAGAG,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS11+1G>A
chr22:42968536	transcript	NM_014509,NM_014509
chr22:42968536	genomic	.,.
chr22:42968536	codon	.,.
chr22:42968536	protein	.,.
chr22:42968536	worst	esplice
chr22:42968536	class	esplice,NON=0,SL=0,MIS=0,SYN=0,ESPL=1,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42968536	nvar	1
chr22:42968536	var	chr22:42968536:G/A
chr22:42969925	allele_ref	C
chr22:42969925	allele_alt	A
chr22:42969925	seqdb_ref	C
chr22:42969925	snp_fw_seq3	ACC/AAC
chr22:42969925	snp_rv_seq3	GGT/GTT
chr22:42969925	func	intronic,npcRNA
chr22:42969925	transcript	NM_014509,NR_002184
chr22:42969925	genomic	.,.
chr22:42969925	codon	.,.
chr22:42969925	protein	.,.
chr22:42969925	worst	npcRNA
chr22:42969925	class	npcRNA,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:42969925	nvar	1
chr22:42969925	var	chr22:42969925:C/A
chr22:42970032	allele_ref	T
chr22:42970032	allele_alt	C
chr22:42970032	seqdb_ref	T
chr22:42970032	snp_fw_seq3	GTG/GCG
chr22:42970032	snp_rv_seq3	CAC/CGC
chr22:42970032	func	missense,npcRNA
chr22:42970032	transcript	NM_014509,NR_002184
chr22:42970032	genomic	g.916T>C,.
chr22:42970032	codon	c.916TGC>CGC,.
chr22:42970032	protein	p.306C>R,.
chr22:42970032	worst	missense
chr22:42970032	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:42970032	nvar	1
chr22:42970032	var	chr22:42970032:T/C
chr22:42981890	allele_ref	G
chr22:42981890	allele_alt	A
chr22:42981890	seqdb_ref	G
chr22:42981890	snp_fw_seq3	CGG/CAG
chr22:42981890	snp_rv_seq3	CCG/CTG
chr22:42981890	func	silent,silent
chr22:42981890	transcript	NM_032311,NM_178136
chr22:42981890	genomic	.,.
chr22:42981890	codon	.,.
chr22:42981890	protein	.,.
chr22:42981890	worst	silent
chr22:42981890	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42981890	nvar	1
chr22:42981890	var	chr22:42981890:G/A
chr22:42983467	allele_ref	A
chr22:42983467	allele_alt	G
chr22:42983467	seqdb_ref	A
chr22:42983467	snp_fw_seq3	GAT/GGT
chr22:42983467	snp_rv_seq3	ATC/ACC
chr22:42983467	func	intronic,intronic
chr22:42983467	transcript	NM_032311,NM_178136
chr22:42983467	genomic	.,.
chr22:42983467	codon	.,.
chr22:42983467	protein	.,.
chr22:42983467	worst	intronic
chr22:42983467	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42983467	nvar	1
chr22:42983467	var	chr22:42983467:A/G
chr22:42983472	allele_ref	C
chr22:42983472	allele_alt	T
chr22:42983472	seqdb_ref	C
chr22:42983472	snp_fw_seq3	ACG/ATG
chr22:42983472	snp_rv_seq3	CGT/CAT
chr22:42983472	func	intronic,intronic
chr22:42983472	transcript	NM_032311,NM_178136
chr22:42983472	genomic	.,.
chr22:42983472	codon	.,.
chr22:42983472	protein	.,.
chr22:42983472	worst	intronic
chr22:42983472	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42983472	nvar	1
chr22:42983472	var	chr22:42983472:C/T
chr22:42988117	allele_ref	T
chr22:42988117	allele_alt	C
chr22:42988117	seqdb_ref	T
chr22:42988117	snp_fw_seq3	TTG/TCG
chr22:42988117	snp_rv_seq3	CAA/CGA
chr22:42988117	func	intronic,intronic
chr22:42988117	transcript	NM_032311,NM_178136
chr22:42988117	genomic	.,.
chr22:42988117	codon	.,.
chr22:42988117	protein	.,.
chr22:42988117	worst	intronic
chr22:42988117	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42988117	nvar	1
chr22:42988117	var	chr22:42988117:T/C
chr22:42992147	allele_ref	C
chr22:42992147	allele_alt	T
chr22:42992147	seqdb_ref	C
chr22:42992147	snp_fw_seq3	ACA/ATA
chr22:42992147	snp_rv_seq3	TGT/TAT
chr22:42992147	func	intronic,intronic
chr22:42992147	transcript	NM_032311,NM_178136
chr22:42992147	genomic	.,.
chr22:42992147	codon	.,.
chr22:42992147	protein	.,.
chr22:42992147	worst	intronic
chr22:42992147	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:42992147	nvar	1
chr22:42992147	var	chr22:42992147:C/T
chr22:43010817	allele_ref	G
chr22:43010817	allele_alt	A
chr22:43010817	seqdb_ref	G
chr22:43010817	snp_fw_seq3	CGC/CAC
chr22:43010817	snp_rv_seq3	GCG/GTG
chr22:43010817	func	missense,missense
chr22:43010817	transcript	NM_032311,NM_178136
chr22:43010817	genomic	g.47G>A,g.47G>A
chr22:43010817	codon	c.47GCG>GTG,c.47GCG>GTG
chr22:43010817	protein	p.16A>V,p.16A>V
chr22:43010817	worst	missense
chr22:43010817	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43010817	nvar	1
chr22:43010817	var	chr22:43010817:G/A
chr22:43015787	allele_ref	C
chr22:43015787	allele_alt	T
chr22:43015787	seqdb_ref	C
chr22:43015787	snp_fw_seq3	ACG/ATG
chr22:43015787	snp_rv_seq3	CGT/CAT
chr22:43015787	func	missense,missense,missense,missense,missense
chr22:43015787	transcript	NM_000398,NM_001129819,NM_001171660,NM_001171661,NM_007326
chr22:43015787	genomic	g.898C>T,g.829C>T,g.997C>T,g.829C>T,g.829C>T
chr22:43015787	codon	c.898GTC>ATC,c.829GTC>ATC,c.997GTC>ATC,c.829GTC>ATC,c.829GTC>ATC
chr22:43015787	protein	p.300V>I,p.277V>I,p.333V>I,p.277V>I,p.277V>I
chr22:43015787	worst	missense
chr22:43015787	class	missense,NON=0,SL=0,MIS=5,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43015787	nvar	1
chr22:43015787	var	chr22:43015787:C/T
chr22:43023432	allele_ref	C
chr22:43023432	allele_alt	T
chr22:43023432	seqdb_ref	C
chr22:43023432	snp_fw_seq3	GCG/GTG
chr22:43023432	snp_rv_seq3	CGC/CAC
chr22:43023432	func	intronic,intronic,intronic,intronic,intronic
chr22:43023432	transcript	NM_000398,NM_001129819,NM_001171660,NM_001171661,NM_007326
chr22:43023432	genomic	.,.,.,.,.
chr22:43023432	codon	.,.,.,.,.
chr22:43023432	protein	.,.,.,.,.
chr22:43023432	worst	intronic
chr22:43023432	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43023432	nvar	1
chr22:43023432	var	chr22:43023432:C/T
chr22:43024119	allele_ref	G
chr22:43024119	allele_alt	A
chr22:43024119	seqdb_ref	G
chr22:43024119	snp_fw_seq3	TGA/TAA
chr22:43024119	snp_rv_seq3	TCA/TTA
chr22:43024119	func	intronic,intronic,intronic,intronic,intronic
chr22:43024119	transcript	NM_000398,NM_001129819,NM_001171660,NM_001171661,NM_007326
chr22:43024119	genomic	.,.,.,.,.
chr22:43024119	codon	.,.,.,.,.
chr22:43024119	protein	.,.,.,.,.
chr22:43024119	worst	intronic
chr22:43024119	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43024119	nvar	1
chr22:43024119	var	chr22:43024119:G/A
chr22:43024271	allele_ref	G
chr22:43024271	allele_alt	C
chr22:43024271	seqdb_ref	G
chr22:43024271	snp_fw_seq3	GGT/GCT
chr22:43024271	snp_rv_seq3	ACC/AGC
chr22:43024271	func	missense,missense,missense,missense,missense
chr22:43024271	transcript	NM_000398,NM_001129819,NM_001171660,NM_001171661,NM_007326
chr22:43024271	genomic	g.350G>C,g.281G>C,g.449G>C,g.281G>C,g.281G>C
chr22:43024271	codon	c.350ACC>AGC,c.281ACC>AGC,c.449ACC>AGC,c.281ACC>AGC,c.281ACC>AGC
chr22:43024271	protein	p.117T>S,p.94T>S,p.150T>S,p.94T>S,p.94T>S
chr22:43024271	worst	missense
chr22:43024271	class	missense,NON=0,SL=0,MIS=5,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43024271	nvar	1
chr22:43024271	var	chr22:43024271:G/C
chr22:43027356	allele_ref	G
chr22:43027356	allele_alt	A
chr22:43027356	seqdb_ref	G
chr22:43027356	snp_fw_seq3	CGA/CAA
chr22:43027356	snp_rv_seq3	TCG/TTG
chr22:43027356	func	intronic,intronic,intronic,intronic,intronic
chr22:43027356	transcript	NM_000398,NM_001129819,NM_001171660,NM_001171661,NM_007326
chr22:43027356	genomic	.,.,.,.,.
chr22:43027356	codon	.,.,.,.,.
chr22:43027356	protein	.,.,.,.,.
chr22:43027356	worst	intronic
chr22:43027356	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43027356	nvar	1
chr22:43027356	var	chr22:43027356:G/A
chr22:43032742	allele_ref	C
chr22:43032742	allele_alt	T
chr22:43032742	seqdb_ref	C
chr22:43032742	snp_fw_seq3	GCG/GTG
chr22:43032742	snp_rv_seq3	CGC/CAC
chr22:43032742	func	silent,silent,silent,silent,silent
chr22:43032742	transcript	NM_000398,NM_001129819,NM_001171660,NM_001171661,NM_007326
chr22:43032742	genomic	.,.,.,.,.
chr22:43032742	codon	.,.,.,.,.
chr22:43032742	protein	.,.,.,.,.
chr22:43032742	worst	silent
chr22:43032742	class	silent,NON=0,SL=0,MIS=0,SYN=5,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43032742	nvar	1
chr22:43032742	var	chr22:43032742:C/T
chr22:43032829	allele_ref	T
chr22:43032829	allele_alt	C
chr22:43032829	seqdb_ref	T
chr22:43032829	snp_fw_seq3	CTG/CCG
chr22:43032829	snp_rv_seq3	CAG/CGG
chr22:43032829	func	silent,5-UTR,silent,5-UTR,5-UTR
chr22:43032829	transcript	NM_000398,NM_001129819,NM_001171660,NM_001171661,NM_007326
chr22:43032829	genomic	.,.,.,.,.
chr22:43032829	codon	.,.,.,.,.
chr22:43032829	protein	.,.,.,.,.
chr22:43032829	worst	silent
chr22:43032829	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=3,UTR3=0,npcRNA=0
chr22:43032829	nvar	1
chr22:43032829	var	chr22:43032829:T/C
chr22:43032870	allele_ref	G
chr22:43032870	allele_alt	T
chr22:43032870	seqdb_ref	G
chr22:43032870	snp_fw_seq3	CGC/CTC
chr22:43032870	snp_rv_seq3	GCG/GAG
chr22:43032870	func	intronic,intronic,intronic,intronic,intronic
chr22:43032870	transcript	NM_000398,NM_001129819,NM_001171660,NM_001171661,NM_007326
chr22:43032870	genomic	.,.,.,.,.
chr22:43032870	codon	.,.,.,.,.
chr22:43032870	protein	.,.,.,.,.
chr22:43032870	worst	intronic
chr22:43032870	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43032870	nvar	1
chr22:43032870	var	chr22:43032870:G/T
chr22:43088856	allele_ref	C
chr22:43088856	allele_alt	T
chr22:43088856	seqdb_ref	C
chr22:43088856	snp_fw_seq3	CCC/CTC
chr22:43088856	snp_rv_seq3	GGG/GAG
chr22:43088856	func	3-UTR
chr22:43088856	transcript	NM_017436
chr22:43088856	genomic	.
chr22:43088856	codon	.
chr22:43088856	protein	.
chr22:43088856	worst	UTR3
chr22:43088856	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:43088856	nvar	1
chr22:43088856	var	chr22:43088856:C/T
chr22:43088971	allele_ref	C
chr22:43088971	allele_alt	T
chr22:43088971	seqdb_ref	C
chr22:43088971	snp_fw_seq3	ACG/ATG
chr22:43088971	snp_rv_seq3	CGT/CAT
chr22:43088971	func	silent
chr22:43088971	transcript	NM_017436
chr22:43088971	genomic	.
chr22:43088971	codon	.
chr22:43088971	protein	.
chr22:43088971	worst	silent
chr22:43088971	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43088971	nvar	1
chr22:43088971	var	chr22:43088971:C/T
chr22:43089055	allele_ref	G
chr22:43089055	allele_alt	C
chr22:43089055	seqdb_ref	G
chr22:43089055	snp_fw_seq3	CGG/CCG
chr22:43089055	snp_rv_seq3	CCG/CGG
chr22:43089055	func	silent
chr22:43089055	transcript	NM_017436
chr22:43089055	genomic	.
chr22:43089055	codon	.
chr22:43089055	protein	.
chr22:43089055	worst	silent
chr22:43089055	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43089055	nvar	1
chr22:43089055	var	chr22:43089055:G/C
chr22:43089289	allele_ref	G
chr22:43089289	allele_alt	A
chr22:43089289	seqdb_ref	G
chr22:43089289	snp_fw_seq3	CGA/CAA
chr22:43089289	snp_rv_seq3	TCG/TTG
chr22:43089289	func	silent
chr22:43089289	transcript	NM_017436
chr22:43089289	genomic	.
chr22:43089289	codon	.
chr22:43089289	protein	.
chr22:43089289	worst	silent
chr22:43089289	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43089289	nvar	1
chr22:43089289	var	chr22:43089289:G/A
chr22:43089464	allele_ref	C
chr22:43089464	allele_alt	T
chr22:43089464	seqdb_ref	C
chr22:43089464	snp_fw_seq3	GCG/GTG
chr22:43089464	snp_rv_seq3	CGC/CAC
chr22:43089464	func	missense
chr22:43089464	transcript	NM_017436
chr22:43089464	genomic	g.494C>T
chr22:43089464	codon	c.494CGC>CAC
chr22:43089464	protein	p.165R>H
chr22:43089464	worst	missense
chr22:43089464	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43089464	nvar	1
chr22:43089464	var	chr22:43089464:C/T
chr22:43089517	allele_ref	C
chr22:43089517	allele_alt	T
chr22:43089517	seqdb_ref	C
chr22:43089517	snp_fw_seq3	CCC/CTC
chr22:43089517	snp_rv_seq3	GGG/GAG
chr22:43089517	func	silent
chr22:43089517	transcript	NM_017436
chr22:43089517	genomic	.
chr22:43089517	codon	.
chr22:43089517	protein	.
chr22:43089517	worst	silent
chr22:43089517	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43089517	nvar	1
chr22:43089517	var	chr22:43089517:C/T
chr22:43089658	allele_ref	C
chr22:43089658	allele_alt	T
chr22:43089658	seqdb_ref	C
chr22:43089658	snp_fw_seq3	CCG/CTG
chr22:43089658	snp_rv_seq3	CGG/CAG
chr22:43089658	func	silent
chr22:43089658	transcript	NM_017436
chr22:43089658	genomic	.
chr22:43089658	codon	.
chr22:43089658	protein	.
chr22:43089658	worst	silent
chr22:43089658	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43089658	nvar	1
chr22:43089658	var	chr22:43089658:C/T
chr22:43089849	allele_ref	T
chr22:43089849	allele_alt	C
chr22:43089849	seqdb_ref	T
chr22:43089849	snp_fw_seq3	ATG/ACG
chr22:43089849	snp_rv_seq3	CAT/CGT
chr22:43089849	func	missense
chr22:43089849	transcript	NM_017436
chr22:43089849	genomic	g.109T>C
chr22:43089849	codon	c.109ATG>GTG
chr22:43089849	protein	p.37M>V
chr22:43089849	worst	missense
chr22:43089849	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43089849	nvar	1
chr22:43089849	var	chr22:43089849:T/C
chr22:43193579	allele_ref	A
chr22:43193579	allele_alt	G
chr22:43193579	seqdb_ref	A
chr22:43193579	snp_fw_seq3	CAT/CGT
chr22:43193579	snp_rv_seq3	ATG/ACG
chr22:43193579	func	3-UTR,3-UTR
chr22:43193579	transcript	NM_001142293,NM_014570
chr22:43193579	genomic	.,.
chr22:43193579	codon	.,.
chr22:43193579	protein	.,.
chr22:43193579	worst	UTR3
chr22:43193579	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:43193579	nvar	1
chr22:43193579	var	chr22:43193579:A/G
chr22:43193603	allele_ref	G
chr22:43193603	allele_alt	A
chr22:43193603	seqdb_ref	G
chr22:43193603	snp_fw_seq3	CGT/CAT
chr22:43193603	snp_rv_seq3	ACG/ATG
chr22:43193603	func	silent,silent
chr22:43193603	transcript	NM_001142293,NM_014570
chr22:43193603	genomic	.,.
chr22:43193603	codon	.,.
chr22:43193603	protein	.,.
chr22:43193603	worst	silent
chr22:43193603	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43193603	nvar	1
chr22:43193603	var	chr22:43193603:G/A
chr22:43193641	allele_ref	G
chr22:43193641	allele_alt	A
chr22:43193641	seqdb_ref	G
chr22:43193641	snp_fw_seq3	CGA/CAA
chr22:43193641	snp_rv_seq3	TCG/TTG
chr22:43193641	func	intronic,intronic
chr22:43193641	transcript	NM_001142293,NM_014570
chr22:43193641	genomic	.,.
chr22:43193641	codon	.,.
chr22:43193641	protein	.,.
chr22:43193641	worst	intronic
chr22:43193641	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43193641	nvar	1
chr22:43193641	var	chr22:43193641:G/A
chr22:43195134	allele_ref	C
chr22:43195134	allele_alt	T
chr22:43195134	seqdb_ref	C
chr22:43195134	snp_fw_seq3	GCG/GTG
chr22:43195134	snp_rv_seq3	CGC/CAC
chr22:43195134	func	missense,missense
chr22:43195134	transcript	NM_001142293,NM_014570
chr22:43195134	genomic	g.1312C>T,g.1444C>T
chr22:43195134	codon	c.1312GCC>ACC,c.1444GCC>ACC
chr22:43195134	protein	p.438A>T,p.482A>T
chr22:43195134	worst	missense
chr22:43195134	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43195134	nvar	1
chr22:43195134	var	chr22:43195134:C/T
chr22:43195147	allele_ref	A
chr22:43195147	allele_alt	G
chr22:43195147	seqdb_ref	A
chr22:43195147	snp_fw_seq3	CAC/CGC
chr22:43195147	snp_rv_seq3	GTG/GCG
chr22:43195147	func	silent,silent
chr22:43195147	transcript	NM_001142293,NM_014570
chr22:43195147	genomic	.,.
chr22:43195147	codon	.,.
chr22:43195147	protein	.,.
chr22:43195147	worst	silent
chr22:43195147	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43195147	nvar	1
chr22:43195147	var	chr22:43195147:A/G
chr22:43203137	allele_ref	C
chr22:43203137	allele_alt	T
chr22:43203137	seqdb_ref	C
chr22:43203137	snp_fw_seq3	CCG/CTG
chr22:43203137	snp_rv_seq3	CGG/CAG
chr22:43203137	func	silent,silent
chr22:43203137	transcript	NM_001142293,NM_014570
chr22:43203137	genomic	.,.
chr22:43203137	codon	.,.
chr22:43203137	protein	.,.
chr22:43203137	worst	silent
chr22:43203137	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43203137	nvar	1
chr22:43203137	var	chr22:43203137:C/T
chr22:43203210	allele_ref	T
chr22:43203210	allele_alt	C
chr22:43203210	seqdb_ref	T
chr22:43203210	snp_fw_seq3	ATT/ACT
chr22:43203210	snp_rv_seq3	AAT/AGT
chr22:43203210	func	intronic,intronic
chr22:43203210	transcript	NM_001142293,NM_014570
chr22:43203210	genomic	.,.
chr22:43203210	codon	.,.
chr22:43203210	protein	.,.
chr22:43203210	worst	intronic
chr22:43203210	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43203210	nvar	1
chr22:43203210	var	chr22:43203210:T/C
chr22:43204800	allele_ref	C
chr22:43204800	allele_alt	T
chr22:43204800	seqdb_ref	C
chr22:43204800	snp_fw_seq3	ACA/ATA
chr22:43204800	snp_rv_seq3	TGT/TAT
chr22:43204800	func	missense,missense
chr22:43204800	transcript	NM_001142293,NM_014570
chr22:43204800	genomic	g.1161C>T,g.1293C>T
chr22:43204800	codon	c.1161ATG>ATA,c.1293ATG>ATA
chr22:43204800	protein	p.387M>I,p.431M>I
chr22:43204800	worst	missense
chr22:43204800	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43204800	nvar	1
chr22:43204800	var	chr22:43204800:C/T
chr22:43206882	allele_ref	T
chr22:43206882	allele_alt	C
chr22:43206882	seqdb_ref	T
chr22:43206882	snp_fw_seq3	ATA/ACA
chr22:43206882	snp_rv_seq3	TAT/TGT
chr22:43206882	func	missense,missense
chr22:43206882	transcript	NM_001142293,NM_014570
chr22:43206882	genomic	g.1001T>C,g.1133T>C
chr22:43206882	codon	c.1001TAT>TGT,c.1133TAT>TGT
chr22:43206882	protein	p.334Y>C,p.378Y>C
chr22:43206882	worst	missense
chr22:43206882	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43206882	nvar	1
chr22:43206882	var	chr22:43206882:T/C
chr22:43206950	allele_ref	A
chr22:43206950	allele_alt	C
chr22:43206950	seqdb_ref	A
chr22:43206950	snp_fw_seq3	AAC/ACC
chr22:43206950	snp_rv_seq3	GTT/GGT
chr22:43206950	func	splice,missense,splice,missense
chr22:43206950	annot_details	DIST=0,NMD=0,OFPTV=1,EXIN=11,ISEQ=GACATC,ESEQ=TTCATT,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS11+0T>G,DIST=0,NMD=0,OFPTV=1,EXIN=12,ISEQ=GACATC,ESEQ=TTCATT,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS12+0T>G
chr22:43206950	transcript	NM_001142293,NM_001142293,NM_014570,NM_014570
chr22:43206950	genomic	.,g.933A>C,.,g.1065A>C
chr22:43206950	codon	.,c.933AGT>AGG,.,c.1065AGT>AGG
chr22:43206950	protein	.,p.311S>R,.,p.355S>R
chr22:43206950	worst	missense
chr22:43206950	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43206950	nvar	1
chr22:43206950	var	chr22:43206950:A/C
chr22:43213278	allele_ref	A
chr22:43213278	allele_alt	T
chr22:43213278	seqdb_ref	A
chr22:43213278	snp_fw_seq3	AAA/ATA
chr22:43213278	snp_rv_seq3	TTT/TAT
chr22:43213278	func	intronic,intronic
chr22:43213278	transcript	NM_001142293,NM_014570
chr22:43213278	genomic	.,.
chr22:43213278	codon	.,.
chr22:43213278	protein	.,.
chr22:43213278	worst	intronic
chr22:43213278	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43213278	nvar	1
chr22:43213278	var	chr22:43213278:A/T
chr22:43213761	allele_ref	G
chr22:43213761	allele_alt	A
chr22:43213761	seqdb_ref	G
chr22:43213761	snp_fw_seq3	CGA/CAA
chr22:43213761	snp_rv_seq3	TCG/TTG
chr22:43213761	func	silent,silent
chr22:43213761	transcript	NM_001142293,NM_014570
chr22:43213761	genomic	.,.
chr22:43213761	codon	.,.
chr22:43213761	protein	.,.
chr22:43213761	worst	silent
chr22:43213761	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43213761	nvar	1
chr22:43213761	var	chr22:43213761:G/A
chr22:43218254	allele_ref	A
chr22:43218254	allele_alt	G
chr22:43218254	seqdb_ref	A
chr22:43218254	snp_fw_seq3	TAA/TGA
chr22:43218254	snp_rv_seq3	TTA/TCA
chr22:43218254	func	intronic,intronic
chr22:43218254	transcript	NM_001142293,NM_014570
chr22:43218254	genomic	.,.
chr22:43218254	codon	.,.
chr22:43218254	protein	.,.
chr22:43218254	worst	intronic
chr22:43218254	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43218254	nvar	1
chr22:43218254	var	chr22:43218254:A/G
chr22:43218397	allele_ref	T
chr22:43218397	allele_alt	C
chr22:43218397	seqdb_ref	T
chr22:43218397	snp_fw_seq3	CTT/CCT
chr22:43218397	snp_rv_seq3	AAG/AGG
chr22:43218397	func	missense,missense
chr22:43218397	transcript	NM_001142293,NM_014570
chr22:43218397	genomic	g.559T>C,g.691T>C
chr22:43218397	codon	c.559AGT>GGT,c.691AGT>GGT
chr22:43218397	protein	p.187S>G,p.231S>G
chr22:43218397	worst	missense
chr22:43218397	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43218397	nvar	1
chr22:43218397	var	chr22:43218397:T/C
chr22:43218446	allele_ref	G
chr22:43218446	allele_alt	A
chr22:43218446	seqdb_ref	G
chr22:43218446	snp_fw_seq3	CGA/CAA
chr22:43218446	snp_rv_seq3	TCG/TTG
chr22:43218446	func	intronic,intronic
chr22:43218446	transcript	NM_001142293,NM_014570
chr22:43218446	genomic	.,.
chr22:43218446	codon	.,.
chr22:43218446	protein	.,.
chr22:43218446	worst	intronic
chr22:43218446	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43218446	nvar	1
chr22:43218446	var	chr22:43218446:G/A
chr22:43218463	allele_ref	C
chr22:43218463	allele_alt	T
chr22:43218463	seqdb_ref	C
chr22:43218463	snp_fw_seq3	TCT/TTT
chr22:43218463	snp_rv_seq3	AGA/AAA
chr22:43218463	func	intronic,intronic
chr22:43218463	transcript	NM_001142293,NM_014570
chr22:43218463	genomic	.,.
chr22:43218463	codon	.,.
chr22:43218463	protein	.,.
chr22:43218463	worst	intronic
chr22:43218463	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43218463	nvar	1
chr22:43218463	var	chr22:43218463:C/T
chr22:43219712	allele_ref	C
chr22:43219712	allele_alt	T
chr22:43219712	seqdb_ref	C
chr22:43219712	snp_fw_seq3	GCC/GTC
chr22:43219712	snp_rv_seq3	GGC/GAC
chr22:43219712	func	intronic,splice,intronic,splice
chr22:43219712	annot_details	DIST=4,NMD=0,OFPTV=1,EXIN=7,ISEQ=GACGGT,ESEQ=TATGGA,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS7+4G>A,DIST=4,NMD=0,OFPTV=1,EXIN=8,ISEQ=GACGGT,ESEQ=TATGGA,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS8+4G>A
chr22:43219712	transcript	NM_001142293,NM_001142293,NM_014570,NM_014570
chr22:43219712	genomic	.,.,.,.
chr22:43219712	codon	.,.,.,.
chr22:43219712	protein	.,.,.,.
chr22:43219712	worst	splice
chr22:43219712	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43219712	nvar	1
chr22:43219712	var	chr22:43219712:C/T
chr22:43223032	allele_ref	C
chr22:43223032	allele_alt	T
chr22:43223032	seqdb_ref	C
chr22:43223032	snp_fw_seq3	GCG/GTG
chr22:43223032	snp_rv_seq3	CGC/CAC
chr22:43223032	func	intronic,intronic
chr22:43223032	transcript	NM_001142293,NM_014570
chr22:43223032	genomic	.,.
chr22:43223032	codon	.,.
chr22:43223032	protein	.,.
chr22:43223032	worst	intronic
chr22:43223032	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43223032	nvar	1
chr22:43223032	var	chr22:43223032:C/T
chr22:43230266	allele_ref	G
chr22:43230266	allele_alt	A
chr22:43230266	seqdb_ref	G
chr22:43230266	snp_fw_seq3	AGG/AAG
chr22:43230266	snp_rv_seq3	CCT/CTT
chr22:43230266	func	silent,silent
chr22:43230266	transcript	NM_001142293,NM_014570
chr22:43230266	genomic	.,.
chr22:43230266	codon	.,.
chr22:43230266	protein	.,.
chr22:43230266	worst	silent
chr22:43230266	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43230266	nvar	1
chr22:43230266	var	chr22:43230266:G/A
chr22:43231515	allele_ref	T
chr22:43231515	allele_alt	C
chr22:43231515	seqdb_ref	T
chr22:43231515	snp_fw_seq3	ATG/ACG
chr22:43231515	snp_rv_seq3	CAT/CGT
chr22:43231515	func	intronic,intronic
chr22:43231515	transcript	NM_001142293,NM_014570
chr22:43231515	genomic	.,.
chr22:43231515	codon	.,.
chr22:43231515	protein	.,.
chr22:43231515	worst	intronic
chr22:43231515	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43231515	nvar	1
chr22:43231515	var	chr22:43231515:T/C
chr22:43237072	allele_ref	C
chr22:43237072	allele_alt	A
chr22:43237072	seqdb_ref	C
chr22:43237072	snp_fw_seq3	GCA/GAA
chr22:43237072	snp_rv_seq3	TGC/TTC
chr22:43237072	func	intronic,intronic
chr22:43237072	transcript	NM_001142293,NM_014570
chr22:43237072	genomic	.,.
chr22:43237072	codon	.,.
chr22:43237072	protein	.,.
chr22:43237072	worst	intronic
chr22:43237072	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43237072	nvar	1
chr22:43237072	var	chr22:43237072:C/A
chr22:43253204	allele_ref	G
chr22:43253204	allele_alt	A
chr22:43253204	seqdb_ref	G
chr22:43253204	snp_fw_seq3	CGC/CAC
chr22:43253204	snp_rv_seq3	GCG/GTG
chr22:43253204	func	5-UTR,5-UTR
chr22:43253204	transcript	NM_001142293,NM_014570
chr22:43253204	genomic	.,.
chr22:43253204	codon	.,.
chr22:43253204	protein	.,.
chr22:43253204	worst	UTR5
chr22:43253204	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=2,UTR3=0,npcRNA=0
chr22:43253204	nvar	1
chr22:43253204	var	chr22:43253204:G/A
chr22:43267356	allele_ref	C
chr22:43267356	allele_alt	T
chr22:43267356	seqdb_ref	C
chr22:43267356	snp_fw_seq3	CCG/CTG
chr22:43267356	snp_rv_seq3	CGG/CAG
chr22:43267356	func	3-UTR,3-UTR,3-UTR
chr22:43267356	transcript	NM_001184970,NM_001184971,NM_007229
chr22:43267356	genomic	.,.,.
chr22:43267356	codon	.,.,.
chr22:43267356	protein	.,.,.
chr22:43267356	worst	UTR3
chr22:43267356	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=3,npcRNA=0
chr22:43267356	nvar	1
chr22:43267356	var	chr22:43267356:C/T
chr22:43272116	allele_ref	C
chr22:43272116	allele_alt	T
chr22:43272116	seqdb_ref	C
chr22:43272116	snp_fw_seq3	CCC/CTC
chr22:43272116	snp_rv_seq3	GGG/GAG
chr22:43272116	func	intronic,intronic,intronic
chr22:43272116	transcript	NM_001184970,NM_001184971,NM_007229
chr22:43272116	genomic	.,.,.
chr22:43272116	codon	.,.,.
chr22:43272116	protein	.,.,.
chr22:43272116	worst	intronic
chr22:43272116	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43272116	nvar	1
chr22:43272116	var	chr22:43272116:C/T
chr22:43272195	allele_ref	C
chr22:43272195	allele_alt	G
chr22:43272195	seqdb_ref	C
chr22:43272195	snp_fw_seq3	CCC/CGC
chr22:43272195	snp_rv_seq3	GGG/GCG
chr22:43272195	func	silent,silent,silent
chr22:43272195	transcript	NM_001184970,NM_001184971,NM_007229
chr22:43272195	genomic	.,.,.
chr22:43272195	codon	.,.,.
chr22:43272195	protein	.,.,.
chr22:43272195	worst	silent
chr22:43272195	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43272195	nvar	1
chr22:43272195	var	chr22:43272195:C/G
chr22:43272384	allele_ref	G
chr22:43272384	allele_alt	A
chr22:43272384	seqdb_ref	G
chr22:43272384	snp_fw_seq3	AGA/AAA
chr22:43272384	snp_rv_seq3	TCT/TTT
chr22:43272384	func	intronic,intronic,intronic
chr22:43272384	transcript	NM_001184970,NM_001184971,NM_007229
chr22:43272384	genomic	.,.,.
chr22:43272384	codon	.,.,.
chr22:43272384	protein	.,.,.
chr22:43272384	worst	intronic
chr22:43272384	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43272384	nvar	1
chr22:43272384	var	chr22:43272384:G/A
chr22:43278148	allele_ref	C
chr22:43278148	allele_alt	T
chr22:43278148	seqdb_ref	C
chr22:43278148	snp_fw_seq3	CCT/CTT
chr22:43278148	snp_rv_seq3	AGG/AAG
chr22:43278148	func	intronic,intronic,intronic
chr22:43278148	transcript	NM_001184970,NM_001184971,NM_007229
chr22:43278148	genomic	.,.,.
chr22:43278148	codon	.,.,.
chr22:43278148	protein	.,.,.
chr22:43278148	worst	intronic
chr22:43278148	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43278148	nvar	1
chr22:43278148	var	chr22:43278148:C/T
chr22:43278162	allele_ref	T
chr22:43278162	allele_alt	C
chr22:43278162	seqdb_ref	T
chr22:43278162	snp_fw_seq3	ATG/ACG
chr22:43278162	snp_rv_seq3	CAT/CGT
chr22:43278162	func	intronic,intronic,intronic
chr22:43278162	transcript	NM_001184970,NM_001184971,NM_007229
chr22:43278162	genomic	.,.,.
chr22:43278162	codon	.,.,.
chr22:43278162	protein	.,.,.
chr22:43278162	worst	intronic
chr22:43278162	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43278162	nvar	1
chr22:43278162	var	chr22:43278162:T/C
chr22:43278220	allele_ref	C
chr22:43278220	allele_alt	T
chr22:43278220	seqdb_ref	C
chr22:43278220	snp_fw_seq3	CCG/CTG
chr22:43278220	snp_rv_seq3	CGG/CAG
chr22:43278220	func	silent,silent,silent
chr22:43278220	transcript	NM_001184970,NM_001184971,NM_007229
chr22:43278220	genomic	.,.,.
chr22:43278220	codon	.,.,.
chr22:43278220	protein	.,.,.
chr22:43278220	worst	silent
chr22:43278220	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43278220	nvar	1
chr22:43278220	var	chr22:43278220:C/T
chr22:43284734	allele_ref	T
chr22:43284734	allele_alt	C
chr22:43284734	seqdb_ref	T
chr22:43284734	snp_fw_seq3	GTT/GCT
chr22:43284734	snp_rv_seq3	AAC/AGC
chr22:43284734	func	missense,missense,missense
chr22:43284734	transcript	NM_001184970,NM_001184971,NM_007229
chr22:43284734	genomic	g.524T>C,g.524T>C,g.524T>C
chr22:43284734	codon	c.524AAC>AGC,c.524AAC>AGC,c.524AAC>AGC
chr22:43284734	protein	p.175N>S,p.175N>S,p.175N>S
chr22:43284734	worst	missense
chr22:43284734	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43284734	nvar	1
chr22:43284734	var	chr22:43284734:T/C
chr22:43284802	allele_ref	T
chr22:43284802	allele_alt	C
chr22:43284802	seqdb_ref	T
chr22:43284802	snp_fw_seq3	CTA/CCA
chr22:43284802	snp_rv_seq3	TAG/TGG
chr22:43284802	func	silent,splice,silent,splice,silent,splice
chr22:43284802	annot_details	DIST=-2,NMD=0,OFPTV=1,EXIN=5,ISEQ=GATGTC,ESEQ=AAGATG,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS5+-2A>G,DIST=-2,NMD=0,OFPTV=1,EXIN=5,ISEQ=GATGTC,ESEQ=AAGATG,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS5+-2A>G,DIST=-2,NMD=0,OFPTV=1,EXIN=5,ISEQ=GATGTC,ESEQ=AAGATG,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS5+-2A>G
chr22:43284802	transcript	NM_001184970,NM_001184970,NM_001184971,NM_001184971,NM_007229,NM_007229
chr22:43284802	genomic	.,.,.,.,.,.
chr22:43284802	codon	.,.,.,.,.,.
chr22:43284802	protein	.,.,.,.,.,.
chr22:43284802	worst	splice
chr22:43284802	class	mixed,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=3,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43284802	nvar	1
chr22:43284802	var	chr22:43284802:T/C
chr22:43289473	allele_ref	G
chr22:43289473	allele_alt	A
chr22:43289473	seqdb_ref	G
chr22:43289473	snp_fw_seq3	CGA/CAA
chr22:43289473	snp_rv_seq3	TCG/TTG
chr22:43289473	func	silent,silent,silent
chr22:43289473	transcript	NM_001184970,NM_001184971,NM_007229
chr22:43289473	genomic	.,.,.
chr22:43289473	codon	.,.,.
chr22:43289473	protein	.,.,.
chr22:43289473	worst	silent
chr22:43289473	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43289473	nvar	1
chr22:43289473	var	chr22:43289473:G/A
chr22:43308063	allele_ref	G
chr22:43308063	allele_alt	A
chr22:43308063	seqdb_ref	G
chr22:43308063	snp_fw_seq3	CGG/CAG
chr22:43308063	snp_rv_seq3	CCG/CTG
chr22:43308063	func	silent,silent,silent
chr22:43308063	transcript	NM_001184970,NM_001184971,NM_007229
chr22:43308063	genomic	.,.,.
chr22:43308063	codon	.,.,.
chr22:43308063	protein	.,.,.
chr22:43308063	worst	silent
chr22:43308063	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43308063	nvar	1
chr22:43308063	var	chr22:43308063:G/A
chr22:43308112	allele_ref	A
chr22:43308112	allele_alt	C
chr22:43308112	seqdb_ref	A
chr22:43308112	snp_fw_seq3	AAA/ACA
chr22:43308112	snp_rv_seq3	TTT/TGT
chr22:43308112	func	5-UTR,5-UTR,5-UTR
chr22:43308112	transcript	NM_001184970,NM_001184971,NM_007229
chr22:43308112	genomic	.,.,.
chr22:43308112	codon	.,.,.
chr22:43308112	protein	.,.,.
chr22:43308112	worst	UTR5
chr22:43308112	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=3,UTR3=0,npcRNA=0
chr22:43308112	nvar	1
chr22:43308112	var	chr22:43308112:A/C
chr22:43435812	allele_ref	C
chr22:43435812	allele_alt	T
chr22:43435812	seqdb_ref	C
chr22:43435812	snp_fw_seq3	CCG/CTG
chr22:43435812	snp_rv_seq3	CGG/CAG
chr22:43435812	func	silent,npcRNA
chr22:43435812	transcript	NM_012263,NR_027779
chr22:43435812	genomic	.,.
chr22:43435812	codon	.,.
chr22:43435812	protein	.,.
chr22:43435812	worst	silent
chr22:43435812	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:43435812	nvar	1
chr22:43435812	var	chr22:43435812:C/T
chr22:43435821	allele_ref	C
chr22:43435821	allele_alt	T
chr22:43435821	seqdb_ref	C
chr22:43435821	snp_fw_seq3	TCG/TTG
chr22:43435821	snp_rv_seq3	CGA/CAA
chr22:43435821	func	silent,npcRNA
chr22:43435821	transcript	NM_012263,NR_027779
chr22:43435821	genomic	.,.
chr22:43435821	codon	.,.
chr22:43435821	protein	.,.
chr22:43435821	worst	silent
chr22:43435821	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:43435821	nvar	1
chr22:43435821	var	chr22:43435821:C/T
chr22:43442599	allele_ref	T
chr22:43442599	allele_alt	C
chr22:43442599	seqdb_ref	T
chr22:43442599	snp_fw_seq3	ATG/ACG
chr22:43442599	snp_rv_seq3	CAT/CGT
chr22:43442599	func	intronic,intronic
chr22:43442599	transcript	NM_012263,NR_027779
chr22:43442599	genomic	.,.
chr22:43442599	codon	.,.
chr22:43442599	protein	.,.
chr22:43442599	worst	intronic
chr22:43442599	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43442599	nvar	1
chr22:43442599	var	chr22:43442599:T/C
chr22:43442620	allele_ref	G
chr22:43442620	allele_alt	A
chr22:43442620	seqdb_ref	G
chr22:43442620	snp_fw_seq3	CGC/CAC
chr22:43442620	snp_rv_seq3	GCG/GTG
chr22:43442620	func	intronic,intronic
chr22:43442620	transcript	NM_012263,NR_027779
chr22:43442620	genomic	.,.
chr22:43442620	codon	.,.
chr22:43442620	protein	.,.
chr22:43442620	worst	intronic
chr22:43442620	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43442620	nvar	1
chr22:43442620	var	chr22:43442620:G/A
chr22:43447827	allele_ref	G
chr22:43447827	allele_alt	A
chr22:43447827	seqdb_ref	G
chr22:43447827	snp_fw_seq3	AGC/AAC
chr22:43447827	snp_rv_seq3	GCT/GTT
chr22:43447827	func	silent,npcRNA
chr22:43447827	transcript	NM_012263,NR_027779
chr22:43447827	genomic	.,.
chr22:43447827	codon	.,.
chr22:43447827	protein	.,.
chr22:43447827	worst	silent
chr22:43447827	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:43447827	nvar	1
chr22:43447827	var	chr22:43447827:G/A
chr22:43455432	allele_ref	G
chr22:43455432	allele_alt	A
chr22:43455432	seqdb_ref	G
chr22:43455432	snp_fw_seq3	CGT/CAT
chr22:43455432	snp_rv_seq3	ACG/ATG
chr22:43455432	func	silent,npcRNA
chr22:43455432	transcript	NM_012263,NR_027779
chr22:43455432	genomic	.,.
chr22:43455432	codon	.,.
chr22:43455432	protein	.,.
chr22:43455432	worst	silent
chr22:43455432	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:43455432	nvar	1
chr22:43455432	var	chr22:43455432:G/A
chr22:43455457	allele_ref	T
chr22:43455457	allele_alt	C
chr22:43455457	seqdb_ref	T
chr22:43455457	snp_fw_seq3	CTT/CCT
chr22:43455457	snp_rv_seq3	AAG/AGG
chr22:43455457	func	missense,npcRNA
chr22:43455457	transcript	NM_012263,NR_027779
chr22:43455457	genomic	g.824T>C,.
chr22:43455457	codon	c.824AAG>AGG,.
chr22:43455457	protein	p.275K>R,.
chr22:43455457	worst	missense
chr22:43455457	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:43455457	nvar	1
chr22:43455457	var	chr22:43455457:T/C
chr22:43455531	allele_ref	C
chr22:43455531	allele_alt	T
chr22:43455531	seqdb_ref	C
chr22:43455531	snp_fw_seq3	CCT/CTT
chr22:43455531	snp_rv_seq3	AGG/AAG
chr22:43455531	func	silent,splice,npcRNA,splice
chr22:43455531	annot_details	DIST=-2,NMD=0,OFPTV=1,EXIN=8,ISEQ=GACCAC,ESEQ=CAGGAG,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS8+-2G>A,DIST=-2,NMD=0,OFPTV=1,EXIN=9,ISEQ=GACCAC,ESEQ=CAGGAG,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS9+-2G>A
chr22:43455531	transcript	NM_012263,NM_012263,NR_027779,NR_027779
chr22:43455531	genomic	.,.,.,.
chr22:43455531	codon	.,.,.,.
chr22:43455531	protein	.,.,.,.
chr22:43455531	worst	splice
chr22:43455531	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:43455531	nvar	1
chr22:43455531	var	chr22:43455531:C/T
chr22:43459813	allele_ref	A
chr22:43459813	allele_alt	G
chr22:43459813	seqdb_ref	A
chr22:43459813	snp_fw_seq3	CAC/CGC
chr22:43459813	snp_rv_seq3	GTG/GCG
chr22:43459813	func	intronic,intronic
chr22:43459813	transcript	NM_012263,NR_027779
chr22:43459813	genomic	.,.
chr22:43459813	codon	.,.
chr22:43459813	protein	.,.
chr22:43459813	worst	intronic
chr22:43459813	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43459813	nvar	1
chr22:43459813	var	chr22:43459813:A/G
chr22:43459846	allele_ref	G
chr22:43459846	allele_alt	A
chr22:43459846	seqdb_ref	G
chr22:43459846	snp_fw_seq3	TGA/TAA
chr22:43459846	snp_rv_seq3	TCA/TTA
chr22:43459846	func	silent,npcRNA
chr22:43459846	transcript	NM_012263,NR_027779
chr22:43459846	genomic	.,.
chr22:43459846	codon	.,.
chr22:43459846	protein	.,.
chr22:43459846	worst	silent
chr22:43459846	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:43459846	nvar	1
chr22:43459846	var	chr22:43459846:G/A
chr22:43459864	allele_ref	G
chr22:43459864	allele_alt	A
chr22:43459864	seqdb_ref	G
chr22:43459864	snp_fw_seq3	TGT/TAT
chr22:43459864	snp_rv_seq3	ACA/ATA
chr22:43459864	func	silent,npcRNA
chr22:43459864	transcript	NM_012263,NR_027779
chr22:43459864	genomic	.,.
chr22:43459864	codon	.,.
chr22:43459864	protein	.,.
chr22:43459864	worst	silent
chr22:43459864	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:43459864	nvar	1
chr22:43459864	var	chr22:43459864:G/A
chr22:43460324	allele_ref	C
chr22:43460324	allele_alt	T
chr22:43460324	seqdb_ref	C
chr22:43460324	snp_fw_seq3	ACA/ATA
chr22:43460324	snp_rv_seq3	TGT/TAT
chr22:43460324	func	silent,npcRNA
chr22:43460324	transcript	NM_012263,NR_027779
chr22:43460324	genomic	.,.
chr22:43460324	codon	.,.
chr22:43460324	protein	.,.
chr22:43460324	worst	silent
chr22:43460324	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:43460324	nvar	1
chr22:43460324	var	chr22:43460324:C/T
chr22:43460379	allele_ref	C
chr22:43460379	allele_alt	T
chr22:43460379	seqdb_ref	c
chr22:43460379	snp_fw_seq3	acg/aTg
chr22:43460379	snp_rv_seq3	cgt/cAt
chr22:43460379	func	intronic,intronic
chr22:43460379	transcript	NM_012263,NR_027779
chr22:43460379	genomic	.,.
chr22:43460379	codon	.,.
chr22:43460379	protein	.,.
chr22:43460379	worst	intronic
chr22:43460379	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43460379	nvar	1
chr22:43460379	var	chr22:43460379:C/T
chr22:43464436	allele_ref	G
chr22:43464436	allele_alt	C
chr22:43464436	seqdb_ref	G
chr22:43464436	snp_fw_seq3	GGG/GCG
chr22:43464436	snp_rv_seq3	CCC/CGC
chr22:43464436	func	silent,npcRNA
chr22:43464436	transcript	NM_012263,NR_027779
chr22:43464436	genomic	.,.
chr22:43464436	codon	.,.
chr22:43464436	protein	.,.
chr22:43464436	worst	silent
chr22:43464436	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:43464436	nvar	1
chr22:43464436	var	chr22:43464436:G/C
chr22:43464621	allele_ref	T
chr22:43464621	allele_alt	G
chr22:43464621	seqdb_ref	T
chr22:43464621	snp_fw_seq3	CTG/CGG
chr22:43464621	snp_rv_seq3	CAG/CCG
chr22:43464621	func	intronic,intronic
chr22:43464621	transcript	NM_012263,NR_027779
chr22:43464621	genomic	.,.
chr22:43464621	codon	.,.
chr22:43464621	protein	.,.
chr22:43464621	worst	intronic
chr22:43464621	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43464621	nvar	1
chr22:43464621	var	chr22:43464621:T/G
chr22:43465814	allele_ref	A
chr22:43465814	allele_alt	G
chr22:43465814	seqdb_ref	A
chr22:43465814	snp_fw_seq3	CAA/CGA
chr22:43465814	snp_rv_seq3	TTG/TCG
chr22:43465814	func	silent,npcRNA
chr22:43465814	transcript	NM_012263,NR_027779
chr22:43465814	genomic	.,.
chr22:43465814	codon	.,.
chr22:43465814	protein	.,.
chr22:43465814	worst	silent
chr22:43465814	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:43465814	nvar	1
chr22:43465814	var	chr22:43465814:A/G
chr22:43471437	allele_ref	G
chr22:43471437	allele_alt	A
chr22:43471437	seqdb_ref	G
chr22:43471437	snp_fw_seq3	CGT/CAT
chr22:43471437	snp_rv_seq3	ACG/ATG
chr22:43471437	func	intronic,intronic
chr22:43471437	transcript	NM_012263,NR_027779
chr22:43471437	genomic	.,.
chr22:43471437	codon	.,.
chr22:43471437	protein	.,.
chr22:43471437	worst	intronic
chr22:43471437	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43471437	nvar	1
chr22:43471437	var	chr22:43471437:G/A
chr22:43471560	allele_ref	G
chr22:43471560	allele_alt	A
chr22:43471560	seqdb_ref	G
chr22:43471560	snp_fw_seq3	CGA/CAA
chr22:43471560	snp_rv_seq3	TCG/TTG
chr22:43471560	func	silent,npcRNA
chr22:43471560	transcript	NM_012263,NR_027779
chr22:43471560	genomic	.,.
chr22:43471560	codon	.,.
chr22:43471560	protein	.,.
chr22:43471560	worst	silent
chr22:43471560	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:43471560	nvar	1
chr22:43471560	var	chr22:43471560:G/A
chr22:43520218	allele_ref	T
chr22:43520218	allele_alt	G
chr22:43520218	seqdb_ref	T
chr22:43520218	snp_fw_seq3	CTG/CGG
chr22:43520218	snp_rv_seq3	CAG/CCG
chr22:43520218	func	intronic
chr22:43520218	transcript	NM_001197
chr22:43520218	genomic	.
chr22:43520218	codon	.
chr22:43520218	protein	.
chr22:43520218	worst	intronic
chr22:43520218	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43520218	nvar	1
chr22:43520218	var	chr22:43520218:T/G
chr22:43523766	allele_ref	G
chr22:43523766	allele_alt	A
chr22:43523766	seqdb_ref	G
chr22:43523766	snp_fw_seq3	CGC/CAC
chr22:43523766	snp_rv_seq3	GCG/GTG
chr22:43523766	func	silent
chr22:43523766	transcript	NM_001197
chr22:43523766	genomic	.
chr22:43523766	codon	.
chr22:43523766	protein	.
chr22:43523766	worst	silent
chr22:43523766	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43523766	nvar	1
chr22:43523766	var	chr22:43523766:G/A
chr22:43525176	allele_ref	C
chr22:43525176	allele_alt	T
chr22:43525176	seqdb_ref	C
chr22:43525176	snp_fw_seq3	CCG/CTG
chr22:43525176	snp_rv_seq3	CGG/CAG
chr22:43525176	func	intronic
chr22:43525176	transcript	NM_001197
chr22:43525176	genomic	.
chr22:43525176	codon	.
chr22:43525176	protein	.
chr22:43525176	worst	intronic
chr22:43525176	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43525176	nvar	1
chr22:43525176	var	chr22:43525176:C/T
chr22:43529024	allele_ref	G
chr22:43529024	allele_alt	T
chr22:43529024	seqdb_ref	G
chr22:43529024	snp_fw_seq3	GGT/GTT
chr22:43529024	snp_rv_seq3	ACC/AAC
chr22:43529024	func	3-UTR,3-UTR
chr22:43529024	transcript	NM_014507,NM_173467
chr22:43529024	genomic	.,.
chr22:43529024	codon	.,.
chr22:43529024	protein	.,.
chr22:43529024	worst	UTR3
chr22:43529024	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:43529024	nvar	1
chr22:43529024	var	chr22:43529024:G/T
chr22:43529029	allele_ref	C
chr22:43529029	allele_alt	T
chr22:43529029	seqdb_ref	C
chr22:43529029	snp_fw_seq3	TCG/TTG
chr22:43529029	snp_rv_seq3	CGA/CAA
chr22:43529029	func	3-UTR,3-UTR
chr22:43529029	transcript	NM_014507,NM_173467
chr22:43529029	genomic	.,.
chr22:43529029	codon	.,.
chr22:43529029	protein	.,.
chr22:43529029	worst	UTR3
chr22:43529029	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:43529029	nvar	1
chr22:43529029	var	chr22:43529029:C/T
chr22:43529061	allele_ref	C
chr22:43529061	allele_alt	A
chr22:43529061	seqdb_ref	C
chr22:43529061	snp_fw_seq3	GCT/GAT
chr22:43529061	snp_rv_seq3	AGC/ATC
chr22:43529061	func	3-UTR,missense
chr22:43529061	transcript	NM_014507,NM_173467
chr22:43529061	genomic	.,g.1161C>A
chr22:43529061	codon	.,c.1161GAG>GAT
chr22:43529061	protein	.,p.387E>D
chr22:43529061	worst	missense
chr22:43529061	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:43529061	nvar	1
chr22:43529061	var	chr22:43529061:C/A
chr22:43529094	allele_ref	C
chr22:43529094	allele_alt	G
chr22:43529094	seqdb_ref	C
chr22:43529094	snp_fw_seq3	TCT/TGT
chr22:43529094	snp_rv_seq3	AGA/ACA
chr22:43529094	func	3-UTR,missense
chr22:43529094	transcript	NM_014507,NM_173467
chr22:43529094	genomic	.,g.1128C>G
chr22:43529094	codon	.,c.1128CAG>CAC
chr22:43529094	protein	.,p.376Q>H
chr22:43529094	worst	missense
chr22:43529094	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:43529094	nvar	1
chr22:43529094	var	chr22:43529094:C/G
chr22:43529314	allele_ref	G
chr22:43529314	allele_alt	C
chr22:43529314	seqdb_ref	G
chr22:43529314	snp_fw_seq3	CGC/CCC
chr22:43529314	snp_rv_seq3	GCG/GGG
chr22:43529314	func	3-UTR,missense
chr22:43529314	transcript	NM_014507,NM_173467
chr22:43529314	genomic	.,g.908G>C
chr22:43529314	codon	.,c.908GCG>GGG
chr22:43529314	protein	.,p.303A>G
chr22:43529314	worst	missense
chr22:43529314	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:43529314	nvar	1
chr22:43529314	var	chr22:43529314:G/C
chr22:43529517	allele_ref	C
chr22:43529517	allele_alt	T
chr22:43529517	seqdb_ref	C
chr22:43529517	snp_fw_seq3	CCG/CTG
chr22:43529517	snp_rv_seq3	CGG/CAG
chr22:43529517	func	intronic,intronic
chr22:43529517	transcript	NM_014507,NM_173467
chr22:43529517	genomic	.,.
chr22:43529517	codon	.,.
chr22:43529517	protein	.,.
chr22:43529517	worst	intronic
chr22:43529517	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43529517	nvar	1
chr22:43529517	var	chr22:43529517:C/T
chr22:43533105	allele_ref	C
chr22:43533105	allele_alt	G
chr22:43533105	seqdb_ref	C
chr22:43533105	snp_fw_seq3	TCA/TGA
chr22:43533105	snp_rv_seq3	TGA/TCA
chr22:43533105	func	intronic,silent
chr22:43533105	transcript	NM_014507,NM_173467
chr22:43533105	genomic	.,.
chr22:43533105	codon	.,.
chr22:43533105	protein	.,.
chr22:43533105	worst	silent
chr22:43533105	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43533105	nvar	1
chr22:43533105	var	chr22:43533105:C/G
chr22:43539246	allele_ref	C
chr22:43539246	allele_alt	T
chr22:43539246	seqdb_ref	C
chr22:43539246	snp_fw_seq3	TCC/TTC
chr22:43539246	snp_rv_seq3	GGA/GAA
chr22:43539246	func	missense,missense
chr22:43539246	transcript	NM_014507,NM_173467
chr22:43539246	genomic	g.109C>T,g.109C>T
chr22:43539246	codon	c.109GAG>AAG,c.109GAG>AAG
chr22:43539246	protein	p.37E>K,p.37E>K
chr22:43539246	worst	missense
chr22:43539246	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43539246	nvar	1
chr22:43539246	var	chr22:43539246:C/T
chr22:43558926	allele_ref	A
chr22:43558926	allele_alt	G
chr22:43558926	seqdb_ref	A
chr22:43558926	snp_fw_seq3	CAC/CGC
chr22:43558926	snp_rv_seq3	GTG/GCG
chr22:43558926	func	missense,missense,missense,npcRNA
chr22:43558926	transcript	NM_000714,NM_001256530,NM_001256531,NR_046308
chr22:43558926	genomic	g.439A>G,g.439A>G,g.439A>G,.
chr22:43558926	codon	c.439ACG>GCG,c.439ACG>GCG,c.439ACG>GCG,.
chr22:43558926	protein	p.147T>A,p.147T>A,p.147T>A,.
chr22:43558926	worst	missense
chr22:43558926	class	mixed,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:43558926	nvar	1
chr22:43558926	var	chr22:43558926:A/G
chr22:43558999	allele_ref	T
chr22:43558999	allele_alt	G
chr22:43558999	seqdb_ref	T
chr22:43558999	snp_fw_seq3	GTG/GGG
chr22:43558999	snp_rv_seq3	CAC/CCC
chr22:43558999	func	3-UTR,3-UTR,3-UTR,npcRNA
chr22:43558999	transcript	NM_000714,NM_001256530,NM_001256531,NR_046308
chr22:43558999	genomic	.,.,.,.
chr22:43558999	codon	.,.,.,.
chr22:43558999	protein	.,.,.,.
chr22:43558999	worst	UTR3
chr22:43558999	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=3,npcRNA=1
chr22:43558999	nvar	1
chr22:43558999	var	chr22:43558999:T/G
chr22:43564963	allele_ref	C
chr22:43564963	allele_alt	G
chr22:43564963	seqdb_ref	C
chr22:43564963	snp_fw_seq3	CCT/CGT
chr22:43564963	snp_rv_seq3	AGG/ACG
chr22:43564963	func	intronic
chr22:43564963	transcript	NM_015140
chr22:43564963	genomic	.
chr22:43564963	codon	.
chr22:43564963	protein	.
chr22:43564963	worst	intronic
chr22:43564963	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43564963	nvar	1
chr22:43564963	var	chr22:43564963:C/G
chr22:43565460	allele_ref	G
chr22:43565460	allele_alt	A
chr22:43565460	seqdb_ref	G
chr22:43565460	snp_fw_seq3	CGG/CAG
chr22:43565460	snp_rv_seq3	CCG/CTG
chr22:43565460	func	intronic
chr22:43565460	transcript	NM_015140
chr22:43565460	genomic	.
chr22:43565460	codon	.
chr22:43565460	protein	.
chr22:43565460	worst	intronic
chr22:43565460	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43565460	nvar	1
chr22:43565460	var	chr22:43565460:G/A
chr22:43567789	allele_ref	T
chr22:43567789	allele_alt	C
chr22:43567789	seqdb_ref	T
chr22:43567789	snp_fw_seq3	CTG/CCG
chr22:43567789	snp_rv_seq3	CAG/CGG
chr22:43567789	func	intronic
chr22:43567789	transcript	NM_015140
chr22:43567789	genomic	.
chr22:43567789	codon	.
chr22:43567789	protein	.
chr22:43567789	worst	intronic
chr22:43567789	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43567789	nvar	1
chr22:43567789	var	chr22:43567789:T/C
chr22:43567813	allele_ref	C
chr22:43567813	allele_alt	T
chr22:43567813	seqdb_ref	C
chr22:43567813	snp_fw_seq3	CCT/CTT
chr22:43567813	snp_rv_seq3	AGG/AAG
chr22:43567813	func	intronic
chr22:43567813	transcript	NM_015140
chr22:43567813	genomic	.
chr22:43567813	codon	.
chr22:43567813	protein	.
chr22:43567813	worst	intronic
chr22:43567813	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43567813	nvar	1
chr22:43567813	var	chr22:43567813:C/T
chr22:43567816	allele_ref	A
chr22:43567816	allele_alt	T
chr22:43567816	seqdb_ref	A
chr22:43567816	snp_fw_seq3	CAG/CTG
chr22:43567816	snp_rv_seq3	CTG/CAG
chr22:43567816	func	intronic
chr22:43567816	transcript	NM_015140
chr22:43567816	genomic	.
chr22:43567816	codon	.
chr22:43567816	protein	.
chr22:43567816	worst	intronic
chr22:43567816	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43567816	nvar	1
chr22:43567816	var	chr22:43567816:A/T
chr22:43567876	allele_ref	G
chr22:43567876	allele_alt	A
chr22:43567876	seqdb_ref	G
chr22:43567876	snp_fw_seq3	CGT/CAT
chr22:43567876	snp_rv_seq3	ACG/ATG
chr22:43567876	func	silent
chr22:43567876	transcript	NM_015140
chr22:43567876	genomic	.
chr22:43567876	codon	.
chr22:43567876	protein	.
chr22:43567876	worst	silent
chr22:43567876	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43567876	nvar	1
chr22:43567876	var	chr22:43567876:G/A
chr22:43567937	allele_ref	T
chr22:43567937	allele_alt	A
chr22:43567937	seqdb_ref	T
chr22:43567937	snp_fw_seq3	GTT/GAT
chr22:43567937	snp_rv_seq3	AAC/ATC
chr22:43567937	func	intronic
chr22:43567937	transcript	NM_015140
chr22:43567937	genomic	.
chr22:43567937	codon	.
chr22:43567937	protein	.
chr22:43567937	worst	intronic
chr22:43567937	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43567937	nvar	1
chr22:43567937	var	chr22:43567937:T/A
chr22:43567954	allele_ref	C
chr22:43567954	allele_alt	A
chr22:43567954	seqdb_ref	C
chr22:43567954	snp_fw_seq3	TCC/TAC
chr22:43567954	snp_rv_seq3	GGA/GTA
chr22:43567954	func	intronic
chr22:43567954	transcript	NM_015140
chr22:43567954	genomic	.
chr22:43567954	codon	.
chr22:43567954	protein	.
chr22:43567954	worst	intronic
chr22:43567954	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43567954	nvar	1
chr22:43567954	var	chr22:43567954:C/A
chr22:43568495	allele_ref	G
chr22:43568495	allele_alt	A
chr22:43568495	seqdb_ref	G
chr22:43568495	snp_fw_seq3	CGA/CAA
chr22:43568495	snp_rv_seq3	TCG/TTG
chr22:43568495	func	silent
chr22:43568495	transcript	NM_015140
chr22:43568495	genomic	.
chr22:43568495	codon	.
chr22:43568495	protein	.
chr22:43568495	worst	silent
chr22:43568495	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43568495	nvar	1
chr22:43568495	var	chr22:43568495:G/A
chr22:43568512	allele_ref	C
chr22:43568512	allele_alt	T
chr22:43568512	seqdb_ref	C
chr22:43568512	snp_fw_seq3	ACG/ATG
chr22:43568512	snp_rv_seq3	CGT/CAT
chr22:43568512	func	missense
chr22:43568512	transcript	NM_015140
chr22:43568512	genomic	g.1390C>T
chr22:43568512	codon	c.1390GTG>ATG
chr22:43568512	protein	p.464V>M
chr22:43568512	worst	missense
chr22:43568512	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43568512	nvar	1
chr22:43568512	var	chr22:43568512:C/T
chr22:43569858	allele_ref	G
chr22:43569858	allele_alt	C
chr22:43569858	seqdb_ref	G
chr22:43569858	snp_fw_seq3	GGG/GCG
chr22:43569858	snp_rv_seq3	CCC/CGC
chr22:43569858	func	intronic
chr22:43569858	transcript	NM_015140
chr22:43569858	genomic	.
chr22:43569858	codon	.
chr22:43569858	protein	.
chr22:43569858	worst	intronic
chr22:43569858	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43569858	nvar	1
chr22:43569858	var	chr22:43569858:G/C
chr22:43570463	allele_ref	A
chr22:43570463	allele_alt	G
chr22:43570463	seqdb_ref	A
chr22:43570463	snp_fw_seq3	AAG/AGG
chr22:43570463	snp_rv_seq3	CTT/CCT
chr22:43570463	func	intronic
chr22:43570463	transcript	NM_015140
chr22:43570463	genomic	.
chr22:43570463	codon	.
chr22:43570463	protein	.
chr22:43570463	worst	intronic
chr22:43570463	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43570463	nvar	1
chr22:43570463	var	chr22:43570463:A/G
chr22:43570546	allele_ref	G
chr22:43570546	allele_alt	A
chr22:43570546	seqdb_ref	G
chr22:43570546	snp_fw_seq3	CGT/CAT
chr22:43570546	snp_rv_seq3	ACG/ATG
chr22:43570546	func	silent
chr22:43570546	transcript	NM_015140
chr22:43570546	genomic	.
chr22:43570546	codon	.
chr22:43570546	protein	.
chr22:43570546	worst	silent
chr22:43570546	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43570546	nvar	1
chr22:43570546	var	chr22:43570546:G/A
chr22:43570659	allele_ref	A
chr22:43570659	allele_alt	C
chr22:43570659	seqdb_ref	A
chr22:43570659	snp_fw_seq3	CAA/CCA
chr22:43570659	snp_rv_seq3	TTG/TGG
chr22:43570659	func	intronic
chr22:43570659	transcript	NM_015140
chr22:43570659	genomic	.
chr22:43570659	codon	.
chr22:43570659	protein	.
chr22:43570659	worst	intronic
chr22:43570659	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43570659	nvar	1
chr22:43570659	var	chr22:43570659:A/C
chr22:43572420	allele_ref	G
chr22:43572420	allele_alt	A
chr22:43572420	seqdb_ref	G
chr22:43572420	snp_fw_seq3	CGG/CAG
chr22:43572420	snp_rv_seq3	CCG/CTG
chr22:43572420	func	intronic
chr22:43572420	transcript	NM_015140
chr22:43572420	genomic	.
chr22:43572420	codon	.
chr22:43572420	protein	.
chr22:43572420	worst	intronic
chr22:43572420	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43572420	nvar	1
chr22:43572420	var	chr22:43572420:G/A
chr22:43575616	allele_ref	G
chr22:43575616	allele_alt	A
chr22:43575616	seqdb_ref	G
chr22:43575616	snp_fw_seq3	AGG/AAG
chr22:43575616	snp_rv_seq3	CCT/CTT
chr22:43575616	func	intronic
chr22:43575616	transcript	NM_015140
chr22:43575616	genomic	.
chr22:43575616	codon	.
chr22:43575616	protein	.
chr22:43575616	worst	intronic
chr22:43575616	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43575616	nvar	1
chr22:43575616	var	chr22:43575616:G/A
chr22:43575774	allele_ref	A
chr22:43575774	allele_alt	C
chr22:43575774	seqdb_ref	A
chr22:43575774	snp_fw_seq3	GAG/GCG
chr22:43575774	snp_rv_seq3	CTC/CGC
chr22:43575774	func	intronic
chr22:43575774	transcript	NM_015140
chr22:43575774	genomic	.
chr22:43575774	codon	.
chr22:43575774	protein	.
chr22:43575774	worst	intronic
chr22:43575774	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43575774	nvar	1
chr22:43575774	var	chr22:43575774:A/C
chr22:43575935	allele_ref	C
chr22:43575935	allele_alt	T
chr22:43575935	seqdb_ref	C
chr22:43575935	snp_fw_seq3	GCA/GTA
chr22:43575935	snp_rv_seq3	TGC/TAC
chr22:43575935	func	silent
chr22:43575935	transcript	NM_015140
chr22:43575935	genomic	.
chr22:43575935	codon	.
chr22:43575935	protein	.
chr22:43575935	worst	silent
chr22:43575935	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43575935	nvar	1
chr22:43575935	var	chr22:43575935:C/T
chr22:43575941	allele_ref	C
chr22:43575941	allele_alt	T
chr22:43575941	seqdb_ref	C
chr22:43575941	snp_fw_seq3	CCG/CTG
chr22:43575941	snp_rv_seq3	CGG/CAG
chr22:43575941	func	silent
chr22:43575941	transcript	NM_015140
chr22:43575941	genomic	.
chr22:43575941	codon	.
chr22:43575941	protein	.
chr22:43575941	worst	silent
chr22:43575941	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43575941	nvar	1
chr22:43575941	var	chr22:43575941:C/T
chr22:43576880	allele_ref	C
chr22:43576880	allele_alt	A
chr22:43576880	seqdb_ref	C
chr22:43576880	snp_fw_seq3	GCA/GAA
chr22:43576880	snp_rv_seq3	TGC/TTC
chr22:43576880	func	silent
chr22:43576880	transcript	NM_015140
chr22:43576880	genomic	.
chr22:43576880	codon	.
chr22:43576880	protein	.
chr22:43576880	worst	silent
chr22:43576880	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43576880	nvar	1
chr22:43576880	var	chr22:43576880:C/A
chr22:43576904	allele_ref	G
chr22:43576904	allele_alt	A
chr22:43576904	seqdb_ref	G
chr22:43576904	snp_fw_seq3	CGT/CAT
chr22:43576904	snp_rv_seq3	ACG/ATG
chr22:43576904	func	silent
chr22:43576904	transcript	NM_015140
chr22:43576904	genomic	.
chr22:43576904	codon	.
chr22:43576904	protein	.
chr22:43576904	worst	silent
chr22:43576904	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43576904	nvar	1
chr22:43576904	var	chr22:43576904:G/A
chr22:43579008	allele_ref	G
chr22:43579008	allele_alt	C
chr22:43579008	seqdb_ref	G
chr22:43579008	snp_fw_seq3	AGC/ACC
chr22:43579008	snp_rv_seq3	GCT/GGT
chr22:43579008	func	missense
chr22:43579008	transcript	NM_015140
chr22:43579008	genomic	g.325G>C
chr22:43579008	codon	c.325CTC>GTC
chr22:43579008	protein	p.109L>V
chr22:43579008	worst	missense
chr22:43579008	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43579008	nvar	1
chr22:43579008	var	chr22:43579008:G/C
chr22:43579012	allele_ref	G
chr22:43579012	allele_alt	A
chr22:43579012	seqdb_ref	G
chr22:43579012	snp_fw_seq3	CGC/CAC
chr22:43579012	snp_rv_seq3	GCG/GTG
chr22:43579012	func	silent
chr22:43579012	transcript	NM_015140
chr22:43579012	genomic	.
chr22:43579012	codon	.
chr22:43579012	protein	.
chr22:43579012	worst	silent
chr22:43579012	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43579012	nvar	1
chr22:43579012	var	chr22:43579012:G/A
chr22:43579049	allele_ref	T
chr22:43579049	allele_alt	C
chr22:43579049	seqdb_ref	T
chr22:43579049	snp_fw_seq3	GTT/GCT
chr22:43579049	snp_rv_seq3	AAC/AGC
chr22:43579049	func	missense
chr22:43579049	transcript	NM_015140
chr22:43579049	genomic	g.284T>C
chr22:43579049	codon	c.284AAC>AGC
chr22:43579049	protein	p.95N>S
chr22:43579049	worst	missense
chr22:43579049	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43579049	nvar	1
chr22:43579049	var	chr22:43579049:T/C
chr22:43579081	allele_ref	C
chr22:43579081	allele_alt	T
chr22:43579081	seqdb_ref	C
chr22:43579081	snp_fw_seq3	CCC/CTC
chr22:43579081	snp_rv_seq3	GGG/GAG
chr22:43579081	func	silent
chr22:43579081	transcript	NM_015140
chr22:43579081	genomic	.
chr22:43579081	codon	.
chr22:43579081	protein	.
chr22:43579081	worst	silent
chr22:43579081	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43579081	nvar	1
chr22:43579081	var	chr22:43579081:C/T
chr22:43579083	allele_ref	G
chr22:43579083	allele_alt	A
chr22:43579083	seqdb_ref	G
chr22:43579083	snp_fw_seq3	CGG/CAG
chr22:43579083	snp_rv_seq3	CCG/CTG
chr22:43579083	func	missense
chr22:43579083	transcript	NM_015140
chr22:43579083	genomic	g.250G>A
chr22:43579083	codon	c.250CGG>TGG
chr22:43579083	protein	p.84R>W
chr22:43579083	worst	missense
chr22:43579083	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43579083	nvar	1
chr22:43579083	var	chr22:43579083:G/A
chr22:43599991	allele_ref	C
chr22:43599991	allele_alt	T
chr22:43599991	seqdb_ref	C
chr22:43599991	snp_fw_seq3	CCG/CTG
chr22:43599991	snp_rv_seq3	CGG/CAG
chr22:43599991	func	3-UTR
chr22:43599991	transcript	NM_173050
chr22:43599991	genomic	.
chr22:43599991	codon	.
chr22:43599991	protein	.
chr22:43599991	worst	UTR3
chr22:43599991	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:43599991	nvar	1
chr22:43599991	var	chr22:43599991:C/T
chr22:43600000	allele_ref	C
chr22:43600000	allele_alt	T
chr22:43600000	seqdb_ref	C
chr22:43600000	snp_fw_seq3	CCG/CTG
chr22:43600000	snp_rv_seq3	CGG/CAG
chr22:43600000	func	3-UTR
chr22:43600000	transcript	NM_173050
chr22:43600000	genomic	.
chr22:43600000	codon	.
chr22:43600000	protein	.
chr22:43600000	worst	UTR3
chr22:43600000	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:43600000	nvar	1
chr22:43600000	var	chr22:43600000:C/T
chr22:43603510	allele_ref	C
chr22:43603510	allele_alt	T
chr22:43603510	seqdb_ref	C
chr22:43603510	snp_fw_seq3	ACG/ATG
chr22:43603510	snp_rv_seq3	CGT/CAT
chr22:43603510	func	intronic
chr22:43603510	transcript	NM_173050
chr22:43603510	genomic	.
chr22:43603510	codon	.
chr22:43603510	protein	.
chr22:43603510	worst	intronic
chr22:43603510	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43603510	nvar	1
chr22:43603510	var	chr22:43603510:C/T
chr22:43603665	allele_ref	G
chr22:43603665	allele_alt	A
chr22:43603665	seqdb_ref	G
chr22:43603665	snp_fw_seq3	GGC/GAC
chr22:43603665	snp_rv_seq3	GCC/GTC
chr22:43603665	func	intronic
chr22:43603665	transcript	NM_173050
chr22:43603665	genomic	.
chr22:43603665	codon	.
chr22:43603665	protein	.
chr22:43603665	worst	intronic
chr22:43603665	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43603665	nvar	1
chr22:43603665	var	chr22:43603665:G/A
chr22:43604034	allele_ref	C
chr22:43604034	allele_alt	T
chr22:43604034	seqdb_ref	c
chr22:43604034	snp_fw_seq3	ccg/cTg
chr22:43604034	snp_rv_seq3	cgg/cAg
chr22:43604034	func	intronic
chr22:43604034	transcript	NM_173050
chr22:43604034	genomic	.
chr22:43604034	codon	.
chr22:43604034	protein	.
chr22:43604034	worst	intronic
chr22:43604034	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43604034	nvar	1
chr22:43604034	var	chr22:43604034:C/T
chr22:43606143	allele_ref	C
chr22:43606143	allele_alt	T
chr22:43606143	seqdb_ref	C
chr22:43606143	snp_fw_seq3	GCG/GTG
chr22:43606143	snp_rv_seq3	CGC/CAC
chr22:43606143	func	silent
chr22:43606143	transcript	NM_173050
chr22:43606143	genomic	.
chr22:43606143	codon	.
chr22:43606143	protein	.
chr22:43606143	worst	silent
chr22:43606143	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43606143	nvar	1
chr22:43606143	var	chr22:43606143:C/T
chr22:43606987	allele_ref	G
chr22:43606987	allele_alt	A
chr22:43606987	seqdb_ref	G
chr22:43606987	snp_fw_seq3	GGT/GAT
chr22:43606987	snp_rv_seq3	ACC/ATC
chr22:43606987	func	missense
chr22:43606987	transcript	NM_173050
chr22:43606987	genomic	g.2324G>A
chr22:43606987	codon	c.2324ACC>ATC
chr22:43606987	protein	p.775T>I
chr22:43606987	worst	missense
chr22:43606987	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43606987	nvar	1
chr22:43606987	var	chr22:43606987:G/A
chr22:43607031	allele_ref	G
chr22:43607031	allele_alt	A
chr22:43607031	seqdb_ref	G
chr22:43607031	snp_fw_seq3	CGG/CAG
chr22:43607031	snp_rv_seq3	CCG/CTG
chr22:43607031	func	silent
chr22:43607031	transcript	NM_173050
chr22:43607031	genomic	.
chr22:43607031	codon	.
chr22:43607031	protein	.
chr22:43607031	worst	silent
chr22:43607031	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43607031	nvar	1
chr22:43607031	var	chr22:43607031:G/A
chr22:43607040	allele_ref	G
chr22:43607040	allele_alt	A
chr22:43607040	seqdb_ref	G
chr22:43607040	snp_fw_seq3	GGA/GAA
chr22:43607040	snp_rv_seq3	TCC/TTC
chr22:43607040	func	silent
chr22:43607040	transcript	NM_173050
chr22:43607040	genomic	.
chr22:43607040	codon	.
chr22:43607040	protein	.
chr22:43607040	worst	silent
chr22:43607040	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43607040	nvar	1
chr22:43607040	var	chr22:43607040:G/A
chr22:43608531	allele_ref	C
chr22:43608531	allele_alt	T
chr22:43608531	seqdb_ref	C
chr22:43608531	snp_fw_seq3	ACG/ATG
chr22:43608531	snp_rv_seq3	CGT/CAT
chr22:43608531	func	silent
chr22:43608531	transcript	NM_173050
chr22:43608531	genomic	.
chr22:43608531	codon	.
chr22:43608531	protein	.
chr22:43608531	worst	silent
chr22:43608531	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43608531	nvar	1
chr22:43608531	var	chr22:43608531:C/T
chr22:43608626	allele_ref	G
chr22:43608626	allele_alt	A
chr22:43608626	seqdb_ref	G
chr22:43608626	snp_fw_seq3	CGG/CAG
chr22:43608626	snp_rv_seq3	CCG/CTG
chr22:43608626	func	intronic
chr22:43608626	transcript	NM_173050
chr22:43608626	genomic	.
chr22:43608626	codon	.
chr22:43608626	protein	.
chr22:43608626	worst	intronic
chr22:43608626	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43608626	nvar	1
chr22:43608626	var	chr22:43608626:G/A
chr22:43610059	allele_ref	C
chr22:43610059	allele_alt	G
chr22:43610059	seqdb_ref	C
chr22:43610059	snp_fw_seq3	CCC/CGC
chr22:43610059	snp_rv_seq3	GGG/GCG
chr22:43610059	func	intronic
chr22:43610059	transcript	NM_173050
chr22:43610059	genomic	.
chr22:43610059	codon	.
chr22:43610059	protein	.
chr22:43610059	worst	intronic
chr22:43610059	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43610059	nvar	1
chr22:43610059	var	chr22:43610059:C/G
chr22:43610106	allele_ref	C
chr22:43610106	allele_alt	T
chr22:43610106	seqdb_ref	C
chr22:43610106	snp_fw_seq3	CCG/CTG
chr22:43610106	snp_rv_seq3	CGG/CAG
chr22:43610106	func	silent
chr22:43610106	transcript	NM_173050
chr22:43610106	genomic	.
chr22:43610106	codon	.
chr22:43610106	protein	.
chr22:43610106	worst	silent
chr22:43610106	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43610106	nvar	1
chr22:43610106	var	chr22:43610106:C/T
chr22:43610207	allele_ref	A
chr22:43610207	allele_alt	G
chr22:43610207	seqdb_ref	A
chr22:43610207	snp_fw_seq3	GAC/GGC
chr22:43610207	snp_rv_seq3	GTC/GCC
chr22:43610207	func	missense
chr22:43610207	transcript	NM_173050
chr22:43610207	genomic	g.1942A>G
chr22:43610207	codon	c.1942TCA>CCA
chr22:43610207	protein	p.648S>P
chr22:43610207	worst	missense
chr22:43610207	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43610207	nvar	1
chr22:43610207	var	chr22:43610207:A/G
chr22:43614223	allele_ref	C
chr22:43614223	allele_alt	G
chr22:43614223	seqdb_ref	C
chr22:43614223	snp_fw_seq3	ACA/AGA
chr22:43614223	snp_rv_seq3	TGT/TCT
chr22:43614223	func	intronic
chr22:43614223	transcript	NM_173050
chr22:43614223	genomic	.
chr22:43614223	codon	.
chr22:43614223	protein	.
chr22:43614223	worst	intronic
chr22:43614223	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43614223	nvar	1
chr22:43614223	var	chr22:43614223:C/G
chr22:43614316	allele_ref	C
chr22:43614316	allele_alt	G
chr22:43614316	seqdb_ref	C
chr22:43614316	snp_fw_seq3	GCG/GGG
chr22:43614316	snp_rv_seq3	CGC/CCC
chr22:43614316	func	silent
chr22:43614316	transcript	NM_173050
chr22:43614316	genomic	.
chr22:43614316	codon	.
chr22:43614316	protein	.
chr22:43614316	worst	silent
chr22:43614316	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43614316	nvar	1
chr22:43614316	var	chr22:43614316:C/G
chr22:43614489	allele_ref	A
chr22:43614489	allele_alt	G
chr22:43614489	seqdb_ref	A
chr22:43614489	snp_fw_seq3	CAT/CGT
chr22:43614489	snp_rv_seq3	ATG/ACG
chr22:43614489	func	intronic
chr22:43614489	transcript	NM_173050
chr22:43614489	genomic	.
chr22:43614489	codon	.
chr22:43614489	protein	.
chr22:43614489	worst	intronic
chr22:43614489	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43614489	nvar	1
chr22:43614489	var	chr22:43614489:A/G
chr22:43618619	allele_ref	A
chr22:43618619	allele_alt	G
chr22:43618619	seqdb_ref	A
chr22:43618619	snp_fw_seq3	CAG/CGG
chr22:43618619	snp_rv_seq3	CTG/CCG
chr22:43618619	func	intronic
chr22:43618619	transcript	NM_173050
chr22:43618619	genomic	.
chr22:43618619	codon	.
chr22:43618619	protein	.
chr22:43618619	worst	intronic
chr22:43618619	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43618619	nvar	1
chr22:43618619	var	chr22:43618619:A/G
chr22:43619062	allele_ref	C
chr22:43619062	allele_alt	G
chr22:43619062	seqdb_ref	C
chr22:43619062	snp_fw_seq3	CCC/CGC
chr22:43619062	snp_rv_seq3	GGG/GCG
chr22:43619062	func	intronic
chr22:43619062	transcript	NM_173050
chr22:43619062	genomic	.
chr22:43619062	codon	.
chr22:43619062	protein	.
chr22:43619062	worst	intronic
chr22:43619062	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43619062	nvar	1
chr22:43619062	var	chr22:43619062:C/G
chr22:43619200	allele_ref	G
chr22:43619200	allele_alt	A
chr22:43619200	seqdb_ref	G
chr22:43619200	snp_fw_seq3	CGC/CAC
chr22:43619200	snp_rv_seq3	GCG/GTG
chr22:43619200	func	silent
chr22:43619200	transcript	NM_173050
chr22:43619200	genomic	.
chr22:43619200	codon	.
chr22:43619200	protein	.
chr22:43619200	worst	silent
chr22:43619200	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43619200	nvar	1
chr22:43619200	var	chr22:43619200:G/A
chr22:43623353	allele_ref	G
chr22:43623353	allele_alt	A
chr22:43623353	seqdb_ref	G
chr22:43623353	snp_fw_seq3	GGG/GAG
chr22:43623353	snp_rv_seq3	CCC/CTC
chr22:43623353	func	intronic
chr22:43623353	transcript	NM_173050
chr22:43623353	genomic	.
chr22:43623353	codon	.
chr22:43623353	protein	.
chr22:43623353	worst	intronic
chr22:43623353	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43623353	nvar	1
chr22:43623353	var	chr22:43623353:G/A
chr22:43623395	allele_ref	C
chr22:43623395	allele_alt	G
chr22:43623395	seqdb_ref	C
chr22:43623395	snp_fw_seq3	CCG/CGG
chr22:43623395	snp_rv_seq3	CGG/CCG
chr22:43623395	func	missense
chr22:43623395	transcript	NM_173050
chr22:43623395	genomic	g.1192C>G
chr22:43623395	codon	c.1192GGG>CGG
chr22:43623395	protein	p.398G>R
chr22:43623395	worst	missense
chr22:43623395	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43623395	nvar	1
chr22:43623395	var	chr22:43623395:C/G
chr22:43623429	allele_ref	G
chr22:43623429	allele_alt	A
chr22:43623429	seqdb_ref	G
chr22:43623429	snp_fw_seq3	CGC/CAC
chr22:43623429	snp_rv_seq3	GCG/GTG
chr22:43623429	func	silent
chr22:43623429	transcript	NM_173050
chr22:43623429	genomic	.
chr22:43623429	codon	.
chr22:43623429	protein	.
chr22:43623429	worst	silent
chr22:43623429	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43623429	nvar	1
chr22:43623429	var	chr22:43623429:G/A
chr22:43625225	allele_ref	G
chr22:43625225	allele_alt	T
chr22:43625225	seqdb_ref	G
chr22:43625225	snp_fw_seq3	GGA/GTA
chr22:43625225	snp_rv_seq3	TCC/TAC
chr22:43625225	func	intronic
chr22:43625225	transcript	NM_173050
chr22:43625225	genomic	.
chr22:43625225	codon	.
chr22:43625225	protein	.
chr22:43625225	worst	intronic
chr22:43625225	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43625225	nvar	1
chr22:43625225	var	chr22:43625225:G/T
chr22:43627712	allele_ref	C
chr22:43627712	allele_alt	T
chr22:43627712	seqdb_ref	C
chr22:43627712	snp_fw_seq3	ACG/ATG
chr22:43627712	snp_rv_seq3	CGT/CAT
chr22:43627712	func	intronic
chr22:43627712	transcript	NM_173050
chr22:43627712	genomic	.
chr22:43627712	codon	.
chr22:43627712	protein	.
chr22:43627712	worst	intronic
chr22:43627712	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43627712	nvar	1
chr22:43627712	var	chr22:43627712:C/T
chr22:43627728	allele_ref	G
chr22:43627728	allele_alt	A
chr22:43627728	seqdb_ref	G
chr22:43627728	snp_fw_seq3	CGA/CAA
chr22:43627728	snp_rv_seq3	TCG/TTG
chr22:43627728	func	intronic
chr22:43627728	transcript	NM_173050
chr22:43627728	genomic	.
chr22:43627728	codon	.
chr22:43627728	protein	.
chr22:43627728	worst	intronic
chr22:43627728	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43627728	nvar	1
chr22:43627728	var	chr22:43627728:G/A
chr22:43634809	allele_ref	C
chr22:43634809	allele_alt	T
chr22:43634809	seqdb_ref	C
chr22:43634809	snp_fw_seq3	ACA/ATA
chr22:43634809	snp_rv_seq3	TGT/TAT
chr22:43634809	func	intronic
chr22:43634809	transcript	NM_173050
chr22:43634809	genomic	.
chr22:43634809	codon	.
chr22:43634809	protein	.
chr22:43634809	worst	intronic
chr22:43634809	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43634809	nvar	1
chr22:43634809	var	chr22:43634809:C/T
chr22:43654253	allele_ref	G
chr22:43654253	allele_alt	A
chr22:43654253	seqdb_ref	G
chr22:43654253	snp_fw_seq3	GGG/GAG
chr22:43654253	snp_rv_seq3	CCC/CTC
chr22:43654253	func	silent
chr22:43654253	transcript	NM_173050
chr22:43654253	genomic	.
chr22:43654253	codon	.
chr22:43654253	protein	.
chr22:43654253	worst	silent
chr22:43654253	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43654253	nvar	1
chr22:43654253	var	chr22:43654253:G/A
chr22:43654278	allele_ref	G
chr22:43654278	allele_alt	A
chr22:43654278	seqdb_ref	G
chr22:43654278	snp_fw_seq3	CGT/CAT
chr22:43654278	snp_rv_seq3	ACG/ATG
chr22:43654278	func	missense
chr22:43654278	transcript	NM_173050
chr22:43654278	genomic	g.674G>A
chr22:43654278	codon	c.674ACG>ATG
chr22:43654278	protein	p.225T>M
chr22:43654278	worst	missense
chr22:43654278	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43654278	nvar	1
chr22:43654278	var	chr22:43654278:G/A
chr22:43658691	allele_ref	C
chr22:43658691	allele_alt	T
chr22:43658691	seqdb_ref	C
chr22:43658691	snp_fw_seq3	ACG/ATG
chr22:43658691	snp_rv_seq3	CGT/CAT
chr22:43658691	func	intronic
chr22:43658691	transcript	NM_173050
chr22:43658691	genomic	.
chr22:43658691	codon	.
chr22:43658691	protein	.
chr22:43658691	worst	intronic
chr22:43658691	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43658691	nvar	1
chr22:43658691	var	chr22:43658691:C/T
chr22:43687014	allele_ref	G
chr22:43687014	allele_alt	T
chr22:43687014	seqdb_ref	G
chr22:43687014	snp_fw_seq3	TGG/TTG
chr22:43687014	snp_rv_seq3	CCA/CAA
chr22:43687014	func	intronic
chr22:43687014	transcript	NM_173050
chr22:43687014	genomic	.
chr22:43687014	codon	.
chr22:43687014	protein	.
chr22:43687014	worst	intronic
chr22:43687014	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43687014	nvar	1
chr22:43687014	var	chr22:43687014:G/T
chr22:43735086	allele_ref	C
chr22:43735086	allele_alt	T
chr22:43735086	seqdb_ref	C
chr22:43735086	snp_fw_seq3	CCC/CTC
chr22:43735086	snp_rv_seq3	GGG/GAG
chr22:43735086	func	intronic
chr22:43735086	transcript	NM_173050
chr22:43735086	genomic	.
chr22:43735086	codon	.
chr22:43735086	protein	.
chr22:43735086	worst	intronic
chr22:43735086	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43735086	nvar	1
chr22:43735086	var	chr22:43735086:C/T
chr22:43830910	allele_ref	C
chr22:43830910	allele_alt	T
chr22:43830910	seqdb_ref	C
chr22:43830910	snp_fw_seq3	GCG/GTG
chr22:43830910	snp_rv_seq3	CGC/CAC
chr22:43830910	func	intronic
chr22:43830910	transcript	NM_001044370
chr22:43830910	genomic	.
chr22:43830910	codon	.
chr22:43830910	protein	.
chr22:43830910	worst	intronic
chr22:43830910	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43830910	nvar	1
chr22:43830910	var	chr22:43830910:C/T
chr22:43830921	allele_ref	C
chr22:43830921	allele_alt	T
chr22:43830921	seqdb_ref	C
chr22:43830921	snp_fw_seq3	GCC/GTC
chr22:43830921	snp_rv_seq3	GGC/GAC
chr22:43830921	func	intronic
chr22:43830921	transcript	NM_001044370
chr22:43830921	genomic	.
chr22:43830921	codon	.
chr22:43830921	protein	.
chr22:43830921	worst	intronic
chr22:43830921	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43830921	nvar	1
chr22:43830921	var	chr22:43830921:C/T
chr22:43830996	allele_ref	C
chr22:43830996	allele_alt	T
chr22:43830996	seqdb_ref	C
chr22:43830996	snp_fw_seq3	ACA/ATA
chr22:43830996	snp_rv_seq3	TGT/TAT
chr22:43830996	func	silent
chr22:43830996	transcript	NM_001044370
chr22:43830996	genomic	.
chr22:43830996	codon	.
chr22:43830996	protein	.
chr22:43830996	worst	silent
chr22:43830996	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43830996	nvar	1
chr22:43830996	var	chr22:43830996:C/T
chr22:43831023	allele_ref	C
chr22:43831023	allele_alt	T
chr22:43831023	seqdb_ref	C
chr22:43831023	snp_fw_seq3	CCC/CTC
chr22:43831023	snp_rv_seq3	GGG/GAG
chr22:43831023	func	silent
chr22:43831023	transcript	NM_001044370
chr22:43831023	genomic	.
chr22:43831023	codon	.
chr22:43831023	protein	.
chr22:43831023	worst	silent
chr22:43831023	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43831023	nvar	1
chr22:43831023	var	chr22:43831023:C/T
chr22:43831056	allele_ref	C
chr22:43831056	allele_alt	T
chr22:43831056	seqdb_ref	C
chr22:43831056	snp_fw_seq3	ACG/ATG
chr22:43831056	snp_rv_seq3	CGT/CAT
chr22:43831056	func	silent
chr22:43831056	transcript	NM_001044370
chr22:43831056	genomic	.
chr22:43831056	codon	.
chr22:43831056	protein	.
chr22:43831056	worst	silent
chr22:43831056	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43831056	nvar	1
chr22:43831056	var	chr22:43831056:C/T
chr22:43870761	allele_ref	G
chr22:43870761	allele_alt	A
chr22:43870761	seqdb_ref	G
chr22:43870761	snp_fw_seq3	TGC/TAC
chr22:43870761	snp_rv_seq3	GCA/GTA
chr22:43870761	func	silent
chr22:43870761	transcript	NM_001044370
chr22:43870761	genomic	.
chr22:43870761	codon	.
chr22:43870761	protein	.
chr22:43870761	worst	silent
chr22:43870761	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43870761	nvar	1
chr22:43870761	var	chr22:43870761:G/A
chr22:43870800	allele_ref	G
chr22:43870800	allele_alt	A
chr22:43870800	seqdb_ref	G
chr22:43870800	snp_fw_seq3	CGG/CAG
chr22:43870800	snp_rv_seq3	CCG/CTG
chr22:43870800	func	silent
chr22:43870800	transcript	NM_001044370
chr22:43870800	genomic	.
chr22:43870800	codon	.
chr22:43870800	protein	.
chr22:43870800	worst	silent
chr22:43870800	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43870800	nvar	1
chr22:43870800	var	chr22:43870800:G/A
chr22:43898489	allele_ref	C
chr22:43898489	allele_alt	T
chr22:43898489	seqdb_ref	C
chr22:43898489	snp_fw_seq3	CCG/CTG
chr22:43898489	snp_rv_seq3	CGG/CAG
chr22:43898489	func	intronic
chr22:43898489	transcript	NM_001044370
chr22:43898489	genomic	.
chr22:43898489	codon	.
chr22:43898489	protein	.
chr22:43898489	worst	intronic
chr22:43898489	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43898489	nvar	1
chr22:43898489	var	chr22:43898489:C/T
chr22:43898650	allele_ref	C
chr22:43898650	allele_alt	T
chr22:43898650	seqdb_ref	C
chr22:43898650	snp_fw_seq3	GCG/GTG
chr22:43898650	snp_rv_seq3	CGC/CAC
chr22:43898650	func	intronic
chr22:43898650	transcript	NM_001044370
chr22:43898650	genomic	.
chr22:43898650	codon	.
chr22:43898650	protein	.
chr22:43898650	worst	intronic
chr22:43898650	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43898650	nvar	1
chr22:43898650	var	chr22:43898650:C/T
chr22:43930524	allele_ref	C
chr22:43930524	allele_alt	G
chr22:43930524	seqdb_ref	C
chr22:43930524	snp_fw_seq3	CCC/CGC
chr22:43930524	snp_rv_seq3	GGG/GCG
chr22:43930524	func	intronic,intronic
chr22:43930524	transcript	NM_022785,NM_198856
chr22:43930524	genomic	.,.
chr22:43930524	codon	.,.
chr22:43930524	protein	.,.
chr22:43930524	worst	intronic
chr22:43930524	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43930524	nvar	1
chr22:43930524	var	chr22:43930524:C/G
chr22:43936219	allele_ref	C
chr22:43936219	allele_alt	T
chr22:43936219	seqdb_ref	C
chr22:43936219	snp_fw_seq3	TCG/TTG
chr22:43936219	snp_rv_seq3	CGA/CAA
chr22:43936219	func	missense,missense
chr22:43936219	transcript	NM_022785,NM_198856
chr22:43936219	genomic	g.3667C>T,g.3211C>T
chr22:43936219	codon	c.3667GAG>AAG,c.3211GAG>AAG
chr22:43936219	protein	p.1223E>K,p.1071E>K
chr22:43936219	worst	missense
chr22:43936219	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43936219	nvar	1
chr22:43936219	var	chr22:43936219:C/T
chr22:43950728	allele_ref	G
chr22:43950728	allele_alt	C
chr22:43950728	seqdb_ref	G
chr22:43950728	snp_fw_seq3	AGG/ACG
chr22:43950728	snp_rv_seq3	CCT/CGT
chr22:43950728	func	intronic,intronic
chr22:43950728	transcript	NM_022785,NM_198856
chr22:43950728	genomic	.,.
chr22:43950728	codon	.,.
chr22:43950728	protein	.,.
chr22:43950728	worst	intronic
chr22:43950728	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43950728	nvar	1
chr22:43950728	var	chr22:43950728:G/C
chr22:43951008	allele_ref	T
chr22:43951008	allele_alt	A
chr22:43951008	seqdb_ref	T
chr22:43951008	snp_fw_seq3	GTG/GAG
chr22:43951008	snp_rv_seq3	CAC/CTC
chr22:43951008	func	intronic,intronic
chr22:43951008	transcript	NM_022785,NM_198856
chr22:43951008	genomic	.,.
chr22:43951008	codon	.,.
chr22:43951008	protein	.,.
chr22:43951008	worst	intronic
chr22:43951008	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43951008	nvar	1
chr22:43951008	var	chr22:43951008:T/A
chr22:43976396	allele_ref	G
chr22:43976396	allele_alt	A
chr22:43976396	seqdb_ref	G
chr22:43976396	snp_fw_seq3	AGC/AAC
chr22:43976396	snp_rv_seq3	GCT/GTT
chr22:43976396	func	missense,missense
chr22:43976396	transcript	NM_022785,NM_198856
chr22:43976396	genomic	g.3176G>A,g.2720G>A
chr22:43976396	codon	c.3176GCT>GTT,c.2720GCT>GTT
chr22:43976396	protein	p.1059A>V,p.907A>V
chr22:43976396	worst	missense
chr22:43976396	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43976396	nvar	1
chr22:43976396	var	chr22:43976396:G/A
chr22:43976423	allele_ref	T
chr22:43976423	allele_alt	C
chr22:43976423	seqdb_ref	T
chr22:43976423	snp_fw_seq3	ATT/ACT
chr22:43976423	snp_rv_seq3	AAT/AGT
chr22:43976423	func	missense,missense
chr22:43976423	transcript	NM_022785,NM_198856
chr22:43976423	genomic	g.3149T>C,g.2693T>C
chr22:43976423	codon	c.3149AAT>AGT,c.2693AAT>AGT
chr22:43976423	protein	p.1050N>S,p.898N>S
chr22:43976423	worst	missense
chr22:43976423	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43976423	nvar	1
chr22:43976423	var	chr22:43976423:T/C
chr22:43985907	allele_ref	T
chr22:43985907	allele_alt	G
chr22:43985907	seqdb_ref	T
chr22:43985907	snp_fw_seq3	ATG/AGG
chr22:43985907	snp_rv_seq3	CAT/CCT
chr22:43985907	func	intronic,intronic
chr22:43985907	transcript	NM_022785,NM_198856
chr22:43985907	genomic	.,.
chr22:43985907	codon	.,.
chr22:43985907	protein	.,.
chr22:43985907	worst	intronic
chr22:43985907	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43985907	nvar	1
chr22:43985907	var	chr22:43985907:T/G
chr22:43986134	allele_ref	T
chr22:43986134	allele_alt	C
chr22:43986134	seqdb_ref	T
chr22:43986134	snp_fw_seq3	ATA/ACA
chr22:43986134	snp_rv_seq3	TAT/TGT
chr22:43986134	func	intronic,intronic
chr22:43986134	transcript	NM_022785,NM_198856
chr22:43986134	genomic	.,.
chr22:43986134	codon	.,.
chr22:43986134	protein	.,.
chr22:43986134	worst	intronic
chr22:43986134	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43986134	nvar	1
chr22:43986134	var	chr22:43986134:T/C
chr22:43986141	allele_ref	A
chr22:43986141	allele_alt	G
chr22:43986141	seqdb_ref	A
chr22:43986141	snp_fw_seq3	AAA/AGA
chr22:43986141	snp_rv_seq3	TTT/TCT
chr22:43986141	func	intronic,intronic
chr22:43986141	transcript	NM_022785,NM_198856
chr22:43986141	genomic	.,.
chr22:43986141	codon	.,.
chr22:43986141	protein	.,.
chr22:43986141	worst	intronic
chr22:43986141	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:43986141	nvar	1
chr22:43986141	var	chr22:43986141:A/G
chr22:44022394	allele_ref	G
chr22:44022394	allele_alt	A
chr22:44022394	seqdb_ref	G
chr22:44022394	snp_fw_seq3	CGA/CAA
chr22:44022394	snp_rv_seq3	TCG/TTG
chr22:44022394	func	missense,missense
chr22:44022394	transcript	NM_022785,NM_198856
chr22:44022394	genomic	g.2398G>A,g.1942G>A
chr22:44022394	codon	c.2398CGG>TGG,c.1942CGG>TGG
chr22:44022394	protein	p.800R>W,p.648R>W
chr22:44022394	worst	missense
chr22:44022394	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44022394	nvar	1
chr22:44022394	var	chr22:44022394:G/A
chr22:44022466	allele_ref	T
chr22:44022466	allele_alt	A
chr22:44022466	seqdb_ref	T
chr22:44022466	snp_fw_seq3	TTA/TAA
chr22:44022466	snp_rv_seq3	TAA/TTA
chr22:44022466	func	missense,missense
chr22:44022466	transcript	NM_022785,NM_198856
chr22:44022466	genomic	g.2326T>A,g.1870T>A
chr22:44022466	codon	c.2326AAT>TAT,c.1870AAT>TAT
chr22:44022466	protein	p.776N>Y,p.624N>Y
chr22:44022466	worst	missense
chr22:44022466	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44022466	nvar	1
chr22:44022466	var	chr22:44022466:T/A
chr22:44022578	allele_ref	C
chr22:44022578	allele_alt	A
chr22:44022578	seqdb_ref	C
chr22:44022578	snp_fw_seq3	ACG/AAG
chr22:44022578	snp_rv_seq3	CGT/CTT
chr22:44022578	func	intronic,intronic
chr22:44022578	transcript	NM_022785,NM_198856
chr22:44022578	genomic	.,.
chr22:44022578	codon	.,.
chr22:44022578	protein	.,.
chr22:44022578	worst	intronic
chr22:44022578	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44022578	nvar	1
chr22:44022578	var	chr22:44022578:C/A
chr22:44027965	allele_ref	G
chr22:44027965	allele_alt	A
chr22:44027965	seqdb_ref	G
chr22:44027965	snp_fw_seq3	CGC/CAC
chr22:44027965	snp_rv_seq3	GCG/GTG
chr22:44027965	func	intronic,intronic
chr22:44027965	transcript	NM_022785,NM_198856
chr22:44027965	genomic	.,.
chr22:44027965	codon	.,.
chr22:44027965	protein	.,.
chr22:44027965	worst	intronic
chr22:44027965	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44027965	nvar	1
chr22:44027965	var	chr22:44027965:G/A
chr22:44028139	allele_ref	G
chr22:44028139	allele_alt	A
chr22:44028139	seqdb_ref	G
chr22:44028139	snp_fw_seq3	CGG/CAG
chr22:44028139	snp_rv_seq3	CCG/CTG
chr22:44028139	func	intronic,intronic
chr22:44028139	transcript	NM_022785,NM_198856
chr22:44028139	genomic	.,.
chr22:44028139	codon	.,.
chr22:44028139	protein	.,.
chr22:44028139	worst	intronic
chr22:44028139	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44028139	nvar	1
chr22:44028139	var	chr22:44028139:G/A
chr22:44031070	allele_ref	C
chr22:44031070	allele_alt	T
chr22:44031070	seqdb_ref	C
chr22:44031070	snp_fw_seq3	CCA/CTA
chr22:44031070	snp_rv_seq3	TGG/TAG
chr22:44031070	func	missense,missense
chr22:44031070	transcript	NM_022785,NM_198856
chr22:44031070	genomic	g.2010C>T,g.1554C>T
chr22:44031070	codon	c.2010ATG>ATA,c.1554ATG>ATA
chr22:44031070	protein	p.670M>I,p.518M>I
chr22:44031070	worst	missense
chr22:44031070	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44031070	nvar	1
chr22:44031070	var	chr22:44031070:C/T
chr22:44031128	allele_ref	C
chr22:44031128	allele_alt	T
chr22:44031128	seqdb_ref	C
chr22:44031128	snp_fw_seq3	GCG/GTG
chr22:44031128	snp_rv_seq3	CGC/CAC
chr22:44031128	func	intronic,intronic
chr22:44031128	transcript	NM_022785,NM_198856
chr22:44031128	genomic	.,.
chr22:44031128	codon	.,.
chr22:44031128	protein	.,.
chr22:44031128	worst	intronic
chr22:44031128	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44031128	nvar	1
chr22:44031128	var	chr22:44031128:C/T
chr22:44062938	allele_ref	G
chr22:44062938	allele_alt	A
chr22:44062938	seqdb_ref	G
chr22:44062938	snp_fw_seq3	AGC/AAC
chr22:44062938	snp_rv_seq3	GCT/GTT
chr22:44062938	func	intronic,intronic
chr22:44062938	transcript	NM_022785,NM_198856
chr22:44062938	genomic	.,.
chr22:44062938	codon	.,.
chr22:44062938	protein	.,.
chr22:44062938	worst	intronic
chr22:44062938	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44062938	nvar	1
chr22:44062938	var	chr22:44062938:G/A
chr22:44074021	allele_ref	C
chr22:44074021	allele_alt	A
chr22:44074021	seqdb_ref	C
chr22:44074021	snp_fw_seq3	TCT/TAT
chr22:44074021	snp_rv_seq3	AGA/ATA
chr22:44074021	func	missense,missense
chr22:44074021	transcript	NM_022785,NM_198856
chr22:44074021	genomic	g.1274C>A,g.818C>A
chr22:44074021	codon	c.1274AGA>ATA,c.818AGA>ATA
chr22:44074021	protein	p.425R>I,p.273R>I
chr22:44074021	worst	missense
chr22:44074021	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44074021	nvar	1
chr22:44074021	var	chr22:44074021:C/A
chr22:44079680	allele_ref	G
chr22:44079680	allele_alt	A
chr22:44079680	seqdb_ref	G
chr22:44079680	snp_fw_seq3	TGT/TAT
chr22:44079680	snp_rv_seq3	ACA/ATA
chr22:44079680	func	missense,missense
chr22:44079680	transcript	NM_022785,NM_198856
chr22:44079680	genomic	g.1198G>A,g.742G>A
chr22:44079680	codon	c.1198CAC>TAC,c.742CAC>TAC
chr22:44079680	protein	p.400H>Y,p.248H>Y
chr22:44079680	worst	missense
chr22:44079680	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44079680	nvar	1
chr22:44079680	var	chr22:44079680:G/A
chr22:44083442	allele_ref	T
chr22:44083442	allele_alt	C
chr22:44083442	seqdb_ref	T
chr22:44083442	snp_fw_seq3	GTG/GCG
chr22:44083442	snp_rv_seq3	CAC/CGC
chr22:44083442	func	missense,missense
chr22:44083442	transcript	NM_022785,NM_198856
chr22:44083442	genomic	g.1051T>C,g.595T>C
chr22:44083442	codon	c.1051ACT>GCT,c.595ACT>GCT
chr22:44083442	protein	p.351T>A,p.199T>A
chr22:44083442	worst	missense
chr22:44083442	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44083442	nvar	1
chr22:44083442	var	chr22:44083442:T/C
chr22:44107471	allele_ref	G
chr22:44107471	allele_alt	A
chr22:44107471	seqdb_ref	G
chr22:44107471	snp_fw_seq3	GGG/GAG
chr22:44107471	snp_rv_seq3	CCC/CTC
chr22:44107471	func	silent,silent
chr22:44107471	transcript	NM_022785,NM_198856
chr22:44107471	genomic	.,.
chr22:44107471	codon	.,.
chr22:44107471	protein	.,.
chr22:44107471	worst	silent
chr22:44107471	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44107471	nvar	1
chr22:44107471	var	chr22:44107471:G/A
chr22:44112807	allele_ref	C
chr22:44112807	allele_alt	T
chr22:44112807	seqdb_ref	C
chr22:44112807	snp_fw_seq3	ACG/ATG
chr22:44112807	snp_rv_seq3	CGT/CAT
chr22:44112807	func	missense,missense
chr22:44112807	transcript	NM_022785,NM_198856
chr22:44112807	genomic	g.803C>T,g.347C>T
chr22:44112807	codon	c.803CGT>CAT,c.347CGT>CAT
chr22:44112807	protein	p.268R>H,p.116R>H
chr22:44112807	worst	missense
chr22:44112807	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44112807	nvar	1
chr22:44112807	var	chr22:44112807:C/T
chr22:44112845	allele_ref	C
chr22:44112845	allele_alt	T
chr22:44112845	seqdb_ref	C
chr22:44112845	snp_fw_seq3	ACG/ATG
chr22:44112845	snp_rv_seq3	CGT/CAT
chr22:44112845	func	silent,silent
chr22:44112845	transcript	NM_022785,NM_198856
chr22:44112845	genomic	.,.
chr22:44112845	codon	.,.
chr22:44112845	protein	.,.
chr22:44112845	worst	silent
chr22:44112845	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44112845	nvar	1
chr22:44112845	var	chr22:44112845:C/T
chr22:44112846	allele_ref	G
chr22:44112846	allele_alt	A
chr22:44112846	seqdb_ref	G
chr22:44112846	snp_fw_seq3	CGA/CAA
chr22:44112846	snp_rv_seq3	TCG/TTG
chr22:44112846	func	missense,missense
chr22:44112846	transcript	NM_022785,NM_198856
chr22:44112846	genomic	g.764G>A,g.308G>A
chr22:44112846	codon	c.764TCG>TTG,c.308TCG>TTG
chr22:44112846	protein	p.255S>L,p.103S>L
chr22:44112846	worst	missense
chr22:44112846	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44112846	nvar	1
chr22:44112846	var	chr22:44112846:G/A
chr22:44127543	allele_ref	T
chr22:44127543	allele_alt	C
chr22:44127543	seqdb_ref	t
chr22:44127543	snp_fw_seq3	att/aCt
chr22:44127543	snp_rv_seq3	aat/aGt
chr22:44127543	func	intronic,intronic
chr22:44127543	transcript	NM_022785,NM_198856
chr22:44127543	genomic	.,.
chr22:44127543	codon	.,.
chr22:44127543	protein	.,.
chr22:44127543	worst	intronic
chr22:44127543	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44127543	nvar	1
chr22:44127543	var	chr22:44127543:T/C
chr22:44127643	allele_ref	G
chr22:44127643	allele_alt	A
chr22:44127643	seqdb_ref	G
chr22:44127643	snp_fw_seq3	CGT/CAT
chr22:44127643	snp_rv_seq3	ACG/ATG
chr22:44127643	func	silent,silent
chr22:44127643	transcript	NM_022785,NM_198856
chr22:44127643	genomic	.,.
chr22:44127643	codon	.,.
chr22:44127643	protein	.,.
chr22:44127643	worst	silent
chr22:44127643	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44127643	nvar	1
chr22:44127643	var	chr22:44127643:G/A
chr22:44151656	allele_ref	A
chr22:44151656	allele_alt	G
chr22:44151656	seqdb_ref	A
chr22:44151656	snp_fw_seq3	CAC/CGC
chr22:44151656	snp_rv_seq3	GTG/GCG
chr22:44151656	func	missense,missense
chr22:44151656	transcript	NM_022785,NM_198856
chr22:44151656	genomic	g.497A>G,g.41A>G
chr22:44151656	codon	c.497GTG>GCG,c.41GTG>GCG
chr22:44151656	protein	p.166V>A,p.14V>A
chr22:44151656	worst	missense
chr22:44151656	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44151656	nvar	1
chr22:44151656	var	chr22:44151656:A/G
chr22:44161245	allele_ref	G
chr22:44161245	allele_alt	A
chr22:44161245	seqdb_ref	G
chr22:44161245	snp_fw_seq3	CGG/CAG
chr22:44161245	snp_rv_seq3	CCG/CTG
chr22:44161245	func	missense,5-UTR
chr22:44161245	transcript	NM_022785,NM_198856
chr22:44161245	genomic	g.380G>A,.
chr22:44161245	codon	c.380CCG>CTG,.
chr22:44161245	protein	p.127P>L,.
chr22:44161245	worst	missense
chr22:44161245	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:44161245	nvar	1
chr22:44161245	var	chr22:44161245:G/A
chr22:44168955	allele_ref	G
chr22:44168955	allele_alt	A
chr22:44168955	seqdb_ref	G
chr22:44168955	snp_fw_seq3	AGG/AAG
chr22:44168955	snp_rv_seq3	CCT/CTT
chr22:44168955	func	silent,intronic
chr22:44168955	transcript	NM_022785,NM_198856
chr22:44168955	genomic	.,.
chr22:44168955	codon	.,.
chr22:44168955	protein	.,.
chr22:44168955	worst	silent
chr22:44168955	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44168955	nvar	1
chr22:44168955	var	chr22:44168955:G/A
chr22:44178103	allele_ref	T
chr22:44178103	allele_alt	C
chr22:44178103	seqdb_ref	T
chr22:44178103	snp_fw_seq3	ATA/ACA
chr22:44178103	snp_rv_seq3	TAT/TGT
chr22:44178103	func	silent,intronic
chr22:44178103	transcript	NM_022785,NM_198856
chr22:44178103	genomic	.,.
chr22:44178103	codon	.,.
chr22:44178103	protein	.,.
chr22:44178103	worst	silent
chr22:44178103	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44178103	nvar	1
chr22:44178103	var	chr22:44178103:T/C
chr22:44178160	allele_ref	C
chr22:44178160	allele_alt	T
chr22:44178160	seqdb_ref	C
chr22:44178160	snp_fw_seq3	GCG/GTG
chr22:44178160	snp_rv_seq3	CGC/CAC
chr22:44178160	func	silent,intronic
chr22:44178160	transcript	NM_022785,NM_198856
chr22:44178160	genomic	.,.
chr22:44178160	codon	.,.
chr22:44178160	protein	.,.
chr22:44178160	worst	silent
chr22:44178160	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44178160	nvar	1
chr22:44178160	var	chr22:44178160:C/T
chr22:44229492	allele_ref	G
chr22:44229492	allele_alt	C
chr22:44229492	seqdb_ref	G
chr22:44229492	snp_fw_seq3	CGG/CCG
chr22:44229492	snp_rv_seq3	CCG/CGG
chr22:44229492	func	intronic
chr22:44229492	transcript	NM_014351
chr22:44229492	genomic	.
chr22:44229492	codon	.
chr22:44229492	protein	.
chr22:44229492	worst	intronic
chr22:44229492	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44229492	nvar	1
chr22:44229492	var	chr22:44229492:G/C
chr22:44229508	allele_ref	G
chr22:44229508	allele_alt	A
chr22:44229508	seqdb_ref	G
chr22:44229508	snp_fw_seq3	CGG/CAG
chr22:44229508	snp_rv_seq3	CCG/CTG
chr22:44229508	func	intronic
chr22:44229508	transcript	NM_014351
chr22:44229508	genomic	.
chr22:44229508	codon	.
chr22:44229508	protein	.
chr22:44229508	worst	intronic
chr22:44229508	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44229508	nvar	1
chr22:44229508	var	chr22:44229508:G/A
chr22:44234713	allele_ref	C
chr22:44234713	allele_alt	T
chr22:44234713	seqdb_ref	C
chr22:44234713	snp_fw_seq3	CCG/CTG
chr22:44234713	snp_rv_seq3	CGG/CAG
chr22:44234713	func	intronic
chr22:44234713	transcript	NM_014351
chr22:44234713	genomic	.
chr22:44234713	codon	.
chr22:44234713	protein	.
chr22:44234713	worst	intronic
chr22:44234713	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44234713	nvar	1
chr22:44234713	var	chr22:44234713:C/T
chr22:44237662	allele_ref	G
chr22:44237662	allele_alt	A
chr22:44237662	seqdb_ref	G
chr22:44237662	snp_fw_seq3	GGT/GAT
chr22:44237662	snp_rv_seq3	ACC/ATC
chr22:44237662	func	intronic
chr22:44237662	transcript	NM_014351
chr22:44237662	genomic	.
chr22:44237662	codon	.
chr22:44237662	protein	.
chr22:44237662	worst	intronic
chr22:44237662	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44237662	nvar	1
chr22:44237662	var	chr22:44237662:G/A
chr22:44277406	allele_ref	C
chr22:44277406	allele_alt	T
chr22:44277406	seqdb_ref	C
chr22:44277406	snp_fw_seq3	CCC/CTC
chr22:44277406	snp_rv_seq3	GGG/GAG
chr22:44277406	func	intronic,intronic
chr22:44277406	transcript	NM_001177675,NM_138814
chr22:44277406	genomic	.,.
chr22:44277406	codon	.,.
chr22:44277406	protein	.,.
chr22:44277406	worst	intronic
chr22:44277406	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44277406	nvar	1
chr22:44277406	var	chr22:44277406:C/T
chr22:44277512	allele_ref	C
chr22:44277512	allele_alt	G
chr22:44277512	seqdb_ref	C
chr22:44277512	snp_fw_seq3	TCC/TGC
chr22:44277512	snp_rv_seq3	GGA/GCA
chr22:44277512	func	missense,missense
chr22:44277512	transcript	NM_001177675,NM_138814
chr22:44277512	genomic	g.783C>G,g.1125C>G
chr22:44277512	codon	c.783TGG>TGC,c.1125TGG>TGC
chr22:44277512	protein	p.261W>C,p.375W>C
chr22:44277512	worst	missense
chr22:44277512	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44277512	nvar	1
chr22:44277512	var	chr22:44277512:C/G
chr22:44280057	allele_ref	G
chr22:44280057	allele_alt	A
chr22:44280057	seqdb_ref	G
chr22:44280057	snp_fw_seq3	AGC/AAC
chr22:44280057	snp_rv_seq3	GCT/GTT
chr22:44280057	func	intronic,intronic
chr22:44280057	transcript	NM_001177675,NM_138814
chr22:44280057	genomic	.,.
chr22:44280057	codon	.,.
chr22:44280057	protein	.,.
chr22:44280057	worst	intronic
chr22:44280057	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44280057	nvar	1
chr22:44280057	var	chr22:44280057:G/A
chr22:44280184	allele_ref	G
chr22:44280184	allele_alt	C
chr22:44280184	seqdb_ref	G
chr22:44280184	snp_fw_seq3	CGG/CCG
chr22:44280184	snp_rv_seq3	CCG/CGG
chr22:44280184	func	missense,missense
chr22:44280184	transcript	NM_001177675,NM_138814
chr22:44280184	genomic	g.649G>C,g.991G>C
chr22:44280184	codon	c.649CGC>GGC,c.991CGC>GGC
chr22:44280184	protein	p.217R>G,p.331R>G
chr22:44280184	worst	missense
chr22:44280184	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44280184	nvar	1
chr22:44280184	var	chr22:44280184:G/C
chr22:44282276	allele_ref	A
chr22:44282276	allele_alt	G
chr22:44282276	seqdb_ref	A
chr22:44282276	snp_fw_seq3	CAG/CGG
chr22:44282276	snp_rv_seq3	CTG/CCG
chr22:44282276	func	missense,missense
chr22:44282276	transcript	NM_001177675,NM_138814
chr22:44282276	genomic	g.514A>G,g.856A>G
chr22:44282276	codon	c.514TGG>CGG,c.856TGG>CGG
chr22:44282276	protein	p.172W>R,p.286W>R
chr22:44282276	worst	missense
chr22:44282276	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44282276	nvar	1
chr22:44282276	var	chr22:44282276:A/G
chr22:44282307	allele_ref	G
chr22:44282307	allele_alt	A
chr22:44282307	seqdb_ref	G
chr22:44282307	snp_fw_seq3	CGT/CAT
chr22:44282307	snp_rv_seq3	ACG/ATG
chr22:44282307	func	silent,silent
chr22:44282307	transcript	NM_001177675,NM_138814
chr22:44282307	genomic	.,.
chr22:44282307	codon	.,.
chr22:44282307	protein	.,.
chr22:44282307	worst	silent
chr22:44282307	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44282307	nvar	1
chr22:44282307	var	chr22:44282307:G/A
chr22:44283440	allele_ref	G
chr22:44283440	allele_alt	A
chr22:44283440	seqdb_ref	G
chr22:44283440	snp_fw_seq3	TGA/TAA
chr22:44283440	snp_rv_seq3	TCA/TTA
chr22:44283440	func	intronic,intronic
chr22:44283440	transcript	NM_001177675,NM_138814
chr22:44283440	genomic	.,.
chr22:44283440	codon	.,.
chr22:44283440	protein	.,.
chr22:44283440	worst	intronic
chr22:44283440	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44283440	nvar	1
chr22:44283440	var	chr22:44283440:G/A
chr22:44283556	allele_ref	A
chr22:44283556	allele_alt	G
chr22:44283556	seqdb_ref	A
chr22:44283556	snp_fw_seq3	GAG/GGG
chr22:44283556	snp_rv_seq3	CTC/CCC
chr22:44283556	func	intronic,intronic
chr22:44283556	transcript	NM_001177675,NM_138814
chr22:44283556	genomic	.,.
chr22:44283556	codon	.,.
chr22:44283556	protein	.,.
chr22:44283556	worst	intronic
chr22:44283556	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44283556	nvar	1
chr22:44283556	var	chr22:44283556:A/G
chr22:44285258	allele_ref	G
chr22:44285258	allele_alt	A
chr22:44285258	seqdb_ref	G
chr22:44285258	snp_fw_seq3	AGT/AAT
chr22:44285258	snp_rv_seq3	ACT/ATT
chr22:44285258	func	missense,missense
chr22:44285258	transcript	NM_001177675,NM_138814
chr22:44285258	genomic	g.311G>A,g.653G>A
chr22:44285258	codon	c.311ACT>ATT,c.653ACT>ATT
chr22:44285258	protein	p.104T>I,p.218T>I
chr22:44285258	worst	missense
chr22:44285258	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44285258	nvar	1
chr22:44285258	var	chr22:44285258:G/A
chr22:44285272	allele_ref	G
chr22:44285272	allele_alt	A
chr22:44285272	seqdb_ref	G
chr22:44285272	snp_fw_seq3	AGC/AAC
chr22:44285272	snp_rv_seq3	GCT/GTT
chr22:44285272	func	silent,silent
chr22:44285272	transcript	NM_001177675,NM_138814
chr22:44285272	genomic	.,.
chr22:44285272	codon	.,.
chr22:44285272	protein	.,.
chr22:44285272	worst	silent
chr22:44285272	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44285272	nvar	1
chr22:44285272	var	chr22:44285272:G/A
chr22:44285312	allele_ref	G
chr22:44285312	allele_alt	A
chr22:44285312	seqdb_ref	G
chr22:44285312	snp_fw_seq3	GGT/GAT
chr22:44285312	snp_rv_seq3	ACC/ATC
chr22:44285312	func	missense,missense
chr22:44285312	transcript	NM_001177675,NM_138814
chr22:44285312	genomic	g.257G>A,g.599G>A
chr22:44285312	codon	c.257ACC>ATC,c.599ACC>ATC
chr22:44285312	protein	p.86T>I,p.200T>I
chr22:44285312	worst	missense
chr22:44285312	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44285312	nvar	1
chr22:44285312	var	chr22:44285312:G/A
chr22:44285428	allele_ref	G
chr22:44285428	allele_alt	A
chr22:44285428	seqdb_ref	G
chr22:44285428	snp_fw_seq3	TGT/TAT
chr22:44285428	snp_rv_seq3	ACA/ATA
chr22:44285428	func	intronic,intronic
chr22:44285428	transcript	NM_001177675,NM_138814
chr22:44285428	genomic	.,.
chr22:44285428	codon	.,.
chr22:44285428	protein	.,.
chr22:44285428	worst	intronic
chr22:44285428	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44285428	nvar	1
chr22:44285428	var	chr22:44285428:G/A
chr22:44285639	allele_ref	G
chr22:44285639	allele_alt	A
chr22:44285639	seqdb_ref	G
chr22:44285639	snp_fw_seq3	GGC/GAC
chr22:44285639	snp_rv_seq3	GCC/GTC
chr22:44285639	func	intronic,intronic
chr22:44285639	transcript	NM_001177675,NM_138814
chr22:44285639	genomic	.,.
chr22:44285639	codon	.,.
chr22:44285639	protein	.,.
chr22:44285639	worst	intronic
chr22:44285639	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44285639	nvar	1
chr22:44285639	var	chr22:44285639:G/A
chr22:44285658	allele_ref	G
chr22:44285658	allele_alt	A
chr22:44285658	seqdb_ref	G
chr22:44285658	snp_fw_seq3	CGG/CAG
chr22:44285658	snp_rv_seq3	CCG/CTG
chr22:44285658	func	intronic,intronic
chr22:44285658	transcript	NM_001177675,NM_138814
chr22:44285658	genomic	.,.
chr22:44285658	codon	.,.
chr22:44285658	protein	.,.
chr22:44285658	worst	intronic
chr22:44285658	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44285658	nvar	1
chr22:44285658	var	chr22:44285658:G/A
chr22:44285667	allele_ref	G
chr22:44285667	allele_alt	A
chr22:44285667	seqdb_ref	G
chr22:44285667	snp_fw_seq3	AGA/AAA
chr22:44285667	snp_rv_seq3	TCT/TTT
chr22:44285667	func	intronic,intronic
chr22:44285667	transcript	NM_001177675,NM_138814
chr22:44285667	genomic	.,.
chr22:44285667	codon	.,.
chr22:44285667	protein	.,.
chr22:44285667	worst	intronic
chr22:44285667	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44285667	nvar	1
chr22:44285667	var	chr22:44285667:G/A
chr22:44285765	allele_ref	A
chr22:44285765	allele_alt	G
chr22:44285765	seqdb_ref	A
chr22:44285765	snp_fw_seq3	CAG/CGG
chr22:44285765	snp_rv_seq3	CTG/CCG
chr22:44285765	func	intronic,intronic
chr22:44285765	transcript	NM_001177675,NM_138814
chr22:44285765	genomic	.,.
chr22:44285765	codon	.,.
chr22:44285765	protein	.,.
chr22:44285765	worst	intronic
chr22:44285765	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44285765	nvar	1
chr22:44285765	var	chr22:44285765:A/G
chr22:44286916	allele_ref	A
chr22:44286916	allele_alt	G
chr22:44286916	seqdb_ref	A
chr22:44286916	snp_fw_seq3	AAG/AGG
chr22:44286916	snp_rv_seq3	CTT/CCT
chr22:44286916	func	intronic,intronic
chr22:44286916	transcript	NM_001177675,NM_138814
chr22:44286916	genomic	.,.
chr22:44286916	codon	.,.
chr22:44286916	protein	.,.
chr22:44286916	worst	intronic
chr22:44286916	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44286916	nvar	1
chr22:44286916	var	chr22:44286916:A/G
chr22:44286950	allele_ref	G
chr22:44286950	allele_alt	A
chr22:44286950	seqdb_ref	G
chr22:44286950	snp_fw_seq3	AGC/AAC
chr22:44286950	snp_rv_seq3	GCT/GTT
chr22:44286950	func	intronic,missense
chr22:44286950	transcript	NM_001177675,NM_138814
chr22:44286950	genomic	.,g.418G>A
chr22:44286950	codon	.,c.418CTC>TTC
chr22:44286950	protein	.,p.140L>F
chr22:44286950	worst	missense
chr22:44286950	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44286950	nvar	1
chr22:44286950	var	chr22:44286950:G/A
chr22:44287062	allele_ref	A
chr22:44287062	allele_alt	G
chr22:44287062	seqdb_ref	A
chr22:44287062	snp_fw_seq3	CAT/CGT
chr22:44287062	snp_rv_seq3	ATG/ACG
chr22:44287062	func	intronic,silent
chr22:44287062	transcript	NM_001177675,NM_138814
chr22:44287062	genomic	.,.
chr22:44287062	codon	.,.
chr22:44287062	protein	.,.
chr22:44287062	worst	silent
chr22:44287062	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44287062	nvar	1
chr22:44287062	var	chr22:44287062:A/G
chr22:44287207	allele_ref	C
chr22:44287207	allele_alt	T
chr22:44287207	seqdb_ref	C
chr22:44287207	snp_fw_seq3	GCG/GTG
chr22:44287207	snp_rv_seq3	CGC/CAC
chr22:44287207	func	intronic,intronic
chr22:44287207	transcript	NM_001177675,NM_138814
chr22:44287207	genomic	.,.
chr22:44287207	codon	.,.
chr22:44287207	protein	.,.
chr22:44287207	worst	intronic
chr22:44287207	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44287207	nvar	1
chr22:44287207	var	chr22:44287207:C/T
chr22:44322922	allele_ref	T
chr22:44322922	allele_alt	G
chr22:44322922	seqdb_ref	T
chr22:44322922	snp_fw_seq3	CTG/CGG
chr22:44322922	snp_rv_seq3	CAG/CCG
chr22:44322922	func	missense
chr22:44322922	transcript	NM_025225
chr22:44322922	genomic	g.295T>G
chr22:44322922	codon	c.295TGC>GGC
chr22:44322922	protein	p.99C>G
chr22:44322922	worst	missense
chr22:44322922	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44322922	nvar	1
chr22:44322922	var	chr22:44322922:T/G
chr22:44322970	allele_ref	G
chr22:44322970	allele_alt	T
chr22:44322970	seqdb_ref	G
chr22:44322970	snp_fw_seq3	AGG/ATG
chr22:44322970	snp_rv_seq3	CCT/CAT
chr22:44322970	func	missense
chr22:44322970	transcript	NM_025225
chr22:44322970	genomic	g.343G>T
chr22:44322970	codon	c.343GGC>TGC
chr22:44322970	protein	p.115G>C
chr22:44322970	worst	missense
chr22:44322970	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44322970	nvar	1
chr22:44322970	var	chr22:44322970:G/T
chr22:44322978	allele_ref	T
chr22:44322978	allele_alt	G
chr22:44322978	seqdb_ref	T
chr22:44322978	snp_fw_seq3	CTC/CGC
chr22:44322978	snp_rv_seq3	GAG/GCG
chr22:44322978	func	silent
chr22:44322978	transcript	NM_025225
chr22:44322978	genomic	.
chr22:44322978	codon	.
chr22:44322978	protein	.
chr22:44322978	worst	silent
chr22:44322978	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44322978	nvar	1
chr22:44322978	var	chr22:44322978:T/G
chr22:44323074	allele_ref	G
chr22:44323074	allele_alt	A
chr22:44323074	seqdb_ref	G
chr22:44323074	snp_fw_seq3	TGT/TAT
chr22:44323074	snp_rv_seq3	ACA/ATA
chr22:44323074	func	intronic
chr22:44323074	transcript	NM_025225
chr22:44323074	genomic	.
chr22:44323074	codon	.
chr22:44323074	protein	.
chr22:44323074	worst	intronic
chr22:44323074	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44323074	nvar	1
chr22:44323074	var	chr22:44323074:G/A
chr22:44324676	allele_ref	A
chr22:44324676	allele_alt	G
chr22:44324676	seqdb_ref	A
chr22:44324676	snp_fw_seq3	TAT/TGT
chr22:44324676	snp_rv_seq3	ATA/ACA
chr22:44324676	func	intronic
chr22:44324676	transcript	NM_025225
chr22:44324676	genomic	.
chr22:44324676	codon	.
chr22:44324676	protein	.
chr22:44324676	worst	intronic
chr22:44324676	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44324676	nvar	1
chr22:44324676	var	chr22:44324676:A/G
chr22:44324727	allele_ref	C
chr22:44324727	allele_alt	G
chr22:44324727	seqdb_ref	C
chr22:44324727	snp_fw_seq3	TCC/TGC
chr22:44324727	snp_rv_seq3	GGA/GCA
chr22:44324727	func	missense
chr22:44324727	transcript	NM_025225
chr22:44324727	genomic	g.444C>G
chr22:44324727	codon	c.444ATC>ATG
chr22:44324727	protein	p.148I>M
chr22:44324727	worst	missense
chr22:44324727	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44324727	nvar	1
chr22:44324727	var	chr22:44324727:C/G
chr22:44324730	allele_ref	C
chr22:44324730	allele_alt	T
chr22:44324730	seqdb_ref	C
chr22:44324730	snp_fw_seq3	CCT/CTT
chr22:44324730	snp_rv_seq3	AGG/AAG
chr22:44324730	func	silent
chr22:44324730	transcript	NM_025225
chr22:44324730	genomic	.
chr22:44324730	codon	.
chr22:44324730	protein	.
chr22:44324730	worst	silent
chr22:44324730	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44324730	nvar	1
chr22:44324730	var	chr22:44324730:C/T
chr22:44328730	allele_ref	G
chr22:44328730	allele_alt	A
chr22:44328730	seqdb_ref	G
chr22:44328730	snp_fw_seq3	TGC/TAC
chr22:44328730	snp_rv_seq3	GCA/GTA
chr22:44328730	func	intronic
chr22:44328730	transcript	NM_025225
chr22:44328730	genomic	.
chr22:44328730	codon	.
chr22:44328730	protein	.
chr22:44328730	worst	intronic
chr22:44328730	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44328730	nvar	1
chr22:44328730	var	chr22:44328730:G/A
chr22:44332974	allele_ref	A
chr22:44332974	allele_alt	C
chr22:44332974	seqdb_ref	A
chr22:44332974	snp_fw_seq3	AAG/ACG
chr22:44332974	snp_rv_seq3	CTT/CGT
chr22:44332974	func	missense
chr22:44332974	transcript	NM_025225
chr22:44332974	genomic	g.801A>C
chr22:44332974	codon	c.801GAA>GAC
chr22:44332974	protein	p.267E>D
chr22:44332974	worst	missense
chr22:44332974	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44332974	nvar	1
chr22:44332974	var	chr22:44332974:A/C
chr22:44333146	allele_ref	G
chr22:44333146	allele_alt	A
chr22:44333146	seqdb_ref	G
chr22:44333146	snp_fw_seq3	CGC/CAC
chr22:44333146	snp_rv_seq3	GCG/GTG
chr22:44333146	func	missense
chr22:44333146	transcript	NM_025225
chr22:44333146	genomic	g.973G>A
chr22:44333146	codon	c.973GCT>ACT
chr22:44333146	protein	p.325A>T
chr22:44333146	worst	missense
chr22:44333146	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44333146	nvar	1
chr22:44333146	var	chr22:44333146:G/A
chr22:44333172	allele_ref	A
chr22:44333172	allele_alt	G
chr22:44333172	seqdb_ref	A
chr22:44333172	snp_fw_seq3	GAG/GGG
chr22:44333172	snp_rv_seq3	CTC/CCC
chr22:44333172	func	intronic
chr22:44333172	transcript	NM_025225
chr22:44333172	genomic	.
chr22:44333172	codon	.
chr22:44333172	protein	.
chr22:44333172	worst	intronic
chr22:44333172	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44333172	nvar	1
chr22:44333172	var	chr22:44333172:A/G
chr22:44336023	allele_ref	C
chr22:44336023	allele_alt	T
chr22:44336023	seqdb_ref	C
chr22:44336023	snp_fw_seq3	GCT/GTT
chr22:44336023	snp_rv_seq3	AGC/AAC
chr22:44336023	func	intronic
chr22:44336023	transcript	NM_025225
chr22:44336023	genomic	.
chr22:44336023	codon	.
chr22:44336023	protein	.
chr22:44336023	worst	intronic
chr22:44336023	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44336023	nvar	1
chr22:44336023	var	chr22:44336023:C/T
chr22:44340640	allele_ref	C
chr22:44340640	allele_alt	T
chr22:44340640	seqdb_ref	C
chr22:44340640	snp_fw_seq3	TCA/TTA
chr22:44340640	snp_rv_seq3	TGA/TAA
chr22:44340640	func	silent
chr22:44340640	transcript	NM_025225
chr22:44340640	genomic	.
chr22:44340640	codon	.
chr22:44340640	protein	.
chr22:44340640	worst	silent
chr22:44340640	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44340640	nvar	1
chr22:44340640	var	chr22:44340640:C/T
chr22:44341986	allele_ref	T
chr22:44341986	allele_alt	C
chr22:44341986	seqdb_ref	T
chr22:44341986	snp_fw_seq3	CTG/CCG
chr22:44341986	snp_rv_seq3	CAG/CGG
chr22:44341986	func	intronic
chr22:44341986	transcript	NM_025225
chr22:44341986	genomic	.
chr22:44341986	codon	.
chr22:44341986	protein	.
chr22:44341986	worst	intronic
chr22:44341986	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44341986	nvar	1
chr22:44341986	var	chr22:44341986:T/C
chr22:44342116	allele_ref	A
chr22:44342116	allele_alt	G
chr22:44342116	seqdb_ref	A
chr22:44342116	snp_fw_seq3	CAA/CGA
chr22:44342116	snp_rv_seq3	TTG/TCG
chr22:44342116	func	missense
chr22:44342116	transcript	NM_025225
chr22:44342116	genomic	g.1300A>G
chr22:44342116	codon	c.1300AAG>GAG
chr22:44342116	protein	p.434K>E
chr22:44342116	worst	missense
chr22:44342116	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44342116	nvar	1
chr22:44342116	var	chr22:44342116:A/G
chr22:44342174	allele_ref	G
chr22:44342174	allele_alt	T
chr22:44342174	seqdb_ref	G
chr22:44342174	snp_fw_seq3	AGC/ATC
chr22:44342174	snp_rv_seq3	GCT/GAT
chr22:44342174	func	missense
chr22:44342174	transcript	NM_025225
chr22:44342174	genomic	g.1358G>T
chr22:44342174	codon	c.1358AGC>ATC
chr22:44342174	protein	p.453S>I
chr22:44342174	worst	missense
chr22:44342174	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44342174	nvar	1
chr22:44342174	var	chr22:44342174:G/T
chr22:44359313	allele_ref	G
chr22:44359313	allele_alt	T
chr22:44359313	seqdb_ref	G
chr22:44359313	snp_fw_seq3	AGT/ATT
chr22:44359313	snp_rv_seq3	ACT/AAT
chr22:44359313	func	intronic
chr22:44359313	transcript	NM_015380
chr22:44359313	genomic	.
chr22:44359313	codon	.
chr22:44359313	protein	.
chr22:44359313	worst	intronic
chr22:44359313	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44359313	nvar	1
chr22:44359313	var	chr22:44359313:G/T
chr22:44364594	allele_ref	C
chr22:44364594	allele_alt	T
chr22:44364594	seqdb_ref	C
chr22:44364594	snp_fw_seq3	TCT/TTT
chr22:44364594	snp_rv_seq3	AGA/AAA
chr22:44364594	func	intronic
chr22:44364594	transcript	NM_015380
chr22:44364594	genomic	.
chr22:44364594	codon	.
chr22:44364594	protein	.
chr22:44364594	worst	intronic
chr22:44364594	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44364594	nvar	1
chr22:44364594	var	chr22:44364594:C/T
chr22:44364708	allele_ref	G
chr22:44364708	allele_alt	T
chr22:44364708	seqdb_ref	G
chr22:44364708	snp_fw_seq3	TGT/TTT
chr22:44364708	snp_rv_seq3	ACA/AAA
chr22:44364708	func	intronic
chr22:44364708	transcript	NM_015380
chr22:44364708	genomic	.
chr22:44364708	codon	.
chr22:44364708	protein	.
chr22:44364708	worst	intronic
chr22:44364708	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44364708	nvar	1
chr22:44364708	var	chr22:44364708:G/T
chr22:44368122	allele_ref	A
chr22:44368122	allele_alt	G
chr22:44368122	seqdb_ref	A
chr22:44368122	snp_fw_seq3	GAC/GGC
chr22:44368122	snp_rv_seq3	GTC/GCC
chr22:44368122	func	missense
chr22:44368122	transcript	NM_015380
chr22:44368122	genomic	g.329A>G
chr22:44368122	codon	c.329GAC>GGC
chr22:44368122	protein	p.110D>G
chr22:44368122	worst	missense
chr22:44368122	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44368122	nvar	1
chr22:44368122	var	chr22:44368122:A/G
chr22:44368204	allele_ref	A
chr22:44368204	allele_alt	G
chr22:44368204	seqdb_ref	A
chr22:44368204	snp_fw_seq3	GAA/GGA
chr22:44368204	snp_rv_seq3	TTC/TCC
chr22:44368204	func	silent
chr22:44368204	transcript	NM_015380
chr22:44368204	genomic	.
chr22:44368204	codon	.
chr22:44368204	protein	.
chr22:44368204	worst	silent
chr22:44368204	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44368204	nvar	1
chr22:44368204	var	chr22:44368204:A/G
chr22:44368741	allele_ref	C
chr22:44368741	allele_alt	T
chr22:44368741	seqdb_ref	C
chr22:44368741	snp_fw_seq3	TCC/TTC
chr22:44368741	snp_rv_seq3	GGA/GAA
chr22:44368741	func	intronic
chr22:44368741	transcript	NM_015380
chr22:44368741	genomic	.
chr22:44368741	codon	.
chr22:44368741	protein	.
chr22:44368741	worst	intronic
chr22:44368741	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44368741	nvar	1
chr22:44368741	var	chr22:44368741:C/T
chr22:44369176	allele_ref	G
chr22:44369176	allele_alt	A
chr22:44369176	seqdb_ref	G
chr22:44369176	snp_fw_seq3	CGG/CAG
chr22:44369176	snp_rv_seq3	CCG/CTG
chr22:44369176	func	silent
chr22:44369176	transcript	NM_015380
chr22:44369176	genomic	.
chr22:44369176	codon	.
chr22:44369176	protein	.
chr22:44369176	worst	silent
chr22:44369176	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44369176	nvar	1
chr22:44369176	var	chr22:44369176:G/A
chr22:44369237	allele_ref	G
chr22:44369237	allele_alt	A
chr22:44369237	seqdb_ref	G
chr22:44369237	snp_fw_seq3	TGG/TAG
chr22:44369237	snp_rv_seq3	CCA/CTA
chr22:44369237	func	intronic
chr22:44369237	transcript	NM_015380
chr22:44369237	genomic	.
chr22:44369237	codon	.
chr22:44369237	protein	.
chr22:44369237	worst	intronic
chr22:44369237	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44369237	nvar	1
chr22:44369237	var	chr22:44369237:G/A
chr22:44372069	allele_ref	G
chr22:44372069	allele_alt	A
chr22:44372069	seqdb_ref	G
chr22:44372069	snp_fw_seq3	CGG/CAG
chr22:44372069	snp_rv_seq3	CCG/CTG
chr22:44372069	func	intronic
chr22:44372069	transcript	NM_015380
chr22:44372069	genomic	.
chr22:44372069	codon	.
chr22:44372069	protein	.
chr22:44372069	worst	intronic
chr22:44372069	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44372069	nvar	1
chr22:44372069	var	chr22:44372069:G/A
chr22:44372632	allele_ref	C
chr22:44372632	allele_alt	T
chr22:44372632	seqdb_ref	C
chr22:44372632	snp_fw_seq3	ACG/ATG
chr22:44372632	snp_rv_seq3	CGT/CAT
chr22:44372632	func	silent,splice
chr22:44372632	annot_details	DIST=2,NMD=0,OFPTV=1,EXIN=9,ISEQ=TTTCAG,ESEQ=CACGCC,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS9+2C>T
chr22:44372632	transcript	NM_015380,NM_015380
chr22:44372632	genomic	.,.
chr22:44372632	codon	.,.
chr22:44372632	protein	.,.
chr22:44372632	worst	splice
chr22:44372632	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44372632	nvar	1
chr22:44372632	var	chr22:44372632:C/T
chr22:44379822	allele_ref	T
chr22:44379822	allele_alt	C
chr22:44379822	seqdb_ref	T
chr22:44379822	snp_fw_seq3	TTG/TCG
chr22:44379822	snp_rv_seq3	CAA/CGA
chr22:44379822	func	silent
chr22:44379822	transcript	NM_015380
chr22:44379822	genomic	.
chr22:44379822	codon	.
chr22:44379822	protein	.
chr22:44379822	worst	silent
chr22:44379822	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44379822	nvar	1
chr22:44379822	var	chr22:44379822:T/C
chr22:44379838	allele_ref	A
chr22:44379838	allele_alt	G
chr22:44379838	seqdb_ref	A
chr22:44379838	snp_fw_seq3	CAT/CGT
chr22:44379838	snp_rv_seq3	ATG/ACG
chr22:44379838	func	missense
chr22:44379838	transcript	NM_015380
chr22:44379838	genomic	g.1033A>G
chr22:44379838	codon	c.1033ATC>GTC
chr22:44379838	protein	p.345I>V
chr22:44379838	worst	missense
chr22:44379838	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44379838	nvar	1
chr22:44379838	var	chr22:44379838:A/G
chr22:44386281	allele_ref	C
chr22:44386281	allele_alt	T
chr22:44386281	seqdb_ref	C
chr22:44386281	snp_fw_seq3	GCG/GTG
chr22:44386281	snp_rv_seq3	CGC/CAC
chr22:44386281	func	silent
chr22:44386281	transcript	NM_015380
chr22:44386281	genomic	.
chr22:44386281	codon	.
chr22:44386281	protein	.
chr22:44386281	worst	silent
chr22:44386281	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44386281	nvar	1
chr22:44386281	var	chr22:44386281:C/T
chr22:44395451	allele_ref	T
chr22:44395451	allele_alt	C
chr22:44395451	seqdb_ref	t
chr22:44395451	snp_fw_seq3	ctg/cCg
chr22:44395451	snp_rv_seq3	cag/cGg
chr22:44395451	func	missense
chr22:44395451	transcript	NM_001003828
chr22:44395451	genomic	g.109T>C
chr22:44395451	codon	c.109TGG>CGG
chr22:44395451	protein	p.37W>R
chr22:44395451	worst	missense
chr22:44395451	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44395451	nvar	1
chr22:44395451	var	chr22:44395451:T/C
chr22:44489850	allele_ref	C
chr22:44489850	allele_alt	G
chr22:44489850	seqdb_ref	C
chr22:44489850	snp_fw_seq3	CCG/CGG
chr22:44489850	snp_rv_seq3	CGG/CCG
chr22:44489850	func	missense,missense,5-UTR,missense
chr22:44489850	transcript	NM_001003828,NM_001243385,NM_001243386,NM_013327
chr22:44489850	genomic	g.254C>G,g.44C>G,.,g.155C>G
chr22:44489850	codon	c.254CCG>CGG,c.44CCG>CGG,.,c.155CCG>CGG
chr22:44489850	protein	p.85P>R,p.15P>R,.,p.52P>R
chr22:44489850	worst	missense
chr22:44489850	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:44489850	nvar	1
chr22:44489850	var	chr22:44489850:C/G
chr22:44489868	allele_ref	T
chr22:44489868	allele_alt	C
chr22:44489868	seqdb_ref	T
chr22:44489868	snp_fw_seq3	GTG/GCG
chr22:44489868	snp_rv_seq3	CAC/CGC
chr22:44489868	func	missense,missense,missense,missense
chr22:44489868	transcript	NM_001003828,NM_001243385,NM_001243386,NM_013327
chr22:44489868	genomic	g.272T>C,g.62T>C,g.17T>C,g.173T>C
chr22:44489868	codon	c.272GTG>GCG,c.62GTG>GCG,c.17GTG>GCG,c.173GTG>GCG
chr22:44489868	protein	p.91V>A,p.21V>A,p.6V>A,p.58V>A
chr22:44489868	worst	missense
chr22:44489868	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44489868	nvar	1
chr22:44489868	var	chr22:44489868:T/C
chr22:44489896	allele_ref	T
chr22:44489896	allele_alt	C
chr22:44489896	seqdb_ref	T
chr22:44489896	snp_fw_seq3	TTG/TCG
chr22:44489896	snp_rv_seq3	CAA/CGA
chr22:44489896	func	silent,splice,silent,splice,silent,splice,silent,splice
chr22:44489896	annot_details	DIST=-1,NMD=0,OFPTV=1,EXIN=3,ISEQ=GTACGG,ESEQ=AGCTTG,SPLICE_TYPE=donor,ALT=C,HGVS=c.IVS3+-1T>C,DIST=-1,NMD=0,OFPTV=1,EXIN=2,ISEQ=GTACGG,ESEQ=AGCTTG,SPLICE_TYPE=donor,ALT=C,HGVS=c.IVS2+-1T>C,DIST=-1,NMD=0,OFPTV=1,EXIN=2,ISEQ=GTACGG,ESEQ=AGCTTG,SPLICE_TYPE=donor,ALT=C,HGVS=c.IVS2+-1T>C,DIST=-1,NMD=0,OFPTV=1,EXIN=2,ISEQ=GTACGG,ESEQ=AGCTTG,SPLICE_TYPE=donor,ALT=C,HGVS=c.IVS2+-1T>C
chr22:44489896	transcript	NM_001003828,NM_001003828,NM_001243385,NM_001243385,NM_001243386,NM_001243386,NM_013327,NM_013327
chr22:44489896	genomic	.,.,.,.,.,.,.,.
chr22:44489896	codon	.,.,.,.,.,.,.,.
chr22:44489896	protein	.,.,.,.,.,.,.,.
chr22:44489896	worst	splice
chr22:44489896	class	mixed,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=4,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44489896	nvar	1
chr22:44489896	var	chr22:44489896:T/C
chr22:44514941	allele_ref	C
chr22:44514941	allele_alt	T
chr22:44514941	seqdb_ref	C
chr22:44514941	snp_fw_seq3	ACG/ATG
chr22:44514941	snp_rv_seq3	CGT/CAT
chr22:44514941	func	silent,silent,silent,silent
chr22:44514941	transcript	NM_001003828,NM_001243385,NM_001243386,NM_013327
chr22:44514941	genomic	.,.,.,.
chr22:44514941	codon	.,.,.,.
chr22:44514941	protein	.,.,.,.
chr22:44514941	worst	silent
chr22:44514941	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44514941	nvar	1
chr22:44514941	var	chr22:44514941:C/T
chr22:44514974	allele_ref	G
chr22:44514974	allele_alt	T
chr22:44514974	seqdb_ref	G
chr22:44514974	snp_fw_seq3	AGC/ATC
chr22:44514974	snp_rv_seq3	GCT/GAT
chr22:44514974	func	missense,missense,missense,missense
chr22:44514974	transcript	NM_001003828,NM_001243385,NM_001243386,NM_013327
chr22:44514974	genomic	g.429G>T,g.219G>T,g.174G>T,g.330G>T
chr22:44514974	codon	c.429CAG>CAT,c.219CAG>CAT,c.174CAG>CAT,c.330CAG>CAT
chr22:44514974	protein	p.143Q>H,p.73Q>H,p.58Q>H,p.110Q>H
chr22:44514974	worst	missense
chr22:44514974	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44514974	nvar	1
chr22:44514974	var	chr22:44514974:G/T
chr22:44514995	allele_ref	C
chr22:44514995	allele_alt	T
chr22:44514995	seqdb_ref	C
chr22:44514995	snp_fw_seq3	ACG/ATG
chr22:44514995	snp_rv_seq3	CGT/CAT
chr22:44514995	func	silent,silent,silent,silent
chr22:44514995	transcript	NM_001003828,NM_001243385,NM_001243386,NM_013327
chr22:44514995	genomic	.,.,.,.
chr22:44514995	codon	.,.,.,.
chr22:44514995	protein	.,.,.,.
chr22:44514995	worst	silent
chr22:44514995	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44514995	nvar	1
chr22:44514995	var	chr22:44514995:C/T
chr22:44528781	allele_ref	C
chr22:44528781	allele_alt	T
chr22:44528781	seqdb_ref	C
chr22:44528781	snp_fw_seq3	ACG/ATG
chr22:44528781	snp_rv_seq3	CGT/CAT
chr22:44528781	func	silent,silent,silent,silent
chr22:44528781	transcript	NM_001003828,NM_001243385,NM_001243386,NM_013327
chr22:44528781	genomic	.,.,.,.
chr22:44528781	codon	.,.,.,.
chr22:44528781	protein	.,.,.,.
chr22:44528781	worst	silent
chr22:44528781	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44528781	nvar	1
chr22:44528781	var	chr22:44528781:C/T
chr22:44535956	allele_ref	T
chr22:44535956	allele_alt	C
chr22:44535956	seqdb_ref	T
chr22:44535956	snp_fw_seq3	GTG/GCG
chr22:44535956	snp_rv_seq3	CAC/CGC
chr22:44535956	func	intronic,intronic,intronic,intronic
chr22:44535956	transcript	NM_001003828,NM_001243385,NM_001243386,NM_013327
chr22:44535956	genomic	.,.,.,.
chr22:44535956	codon	.,.,.,.
chr22:44535956	protein	.,.,.,.
chr22:44535956	worst	intronic
chr22:44535956	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44535956	nvar	1
chr22:44535956	var	chr22:44535956:T/C
chr22:44536045	allele_ref	G
chr22:44536045	allele_alt	A
chr22:44536045	seqdb_ref	G
chr22:44536045	snp_fw_seq3	TGG/TAG
chr22:44536045	snp_rv_seq3	CCA/CTA
chr22:44536045	func	intronic,intronic,intronic,intronic
chr22:44536045	transcript	NM_001003828,NM_001243385,NM_001243386,NM_013327
chr22:44536045	genomic	.,.,.,.
chr22:44536045	codon	.,.,.,.
chr22:44536045	protein	.,.,.,.
chr22:44536045	worst	intronic
chr22:44536045	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44536045	nvar	1
chr22:44536045	var	chr22:44536045:G/A
chr22:44543766	allele_ref	C
chr22:44543766	allele_alt	T
chr22:44543766	seqdb_ref	C
chr22:44543766	snp_fw_seq3	TCG/TTG
chr22:44543766	snp_rv_seq3	CGA/CAA
chr22:44543766	func	silent,silent,silent,silent
chr22:44543766	transcript	NM_001003828,NM_001243385,NM_001243386,NM_013327
chr22:44543766	genomic	.,.,.,.
chr22:44543766	codon	.,.,.,.
chr22:44543766	protein	.,.,.,.
chr22:44543766	worst	silent
chr22:44543766	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44543766	nvar	1
chr22:44543766	var	chr22:44543766:C/T
chr22:44559842	allele_ref	A
chr22:44559842	allele_alt	G
chr22:44559842	seqdb_ref	A
chr22:44559842	snp_fw_seq3	GAG/GGG
chr22:44559842	snp_rv_seq3	CTC/CCC
chr22:44559842	func	intronic,intronic,intronic,intronic
chr22:44559842	transcript	NM_001003828,NM_001243385,NM_001243386,NM_013327
chr22:44559842	genomic	.,.,.,.
chr22:44559842	codon	.,.,.,.
chr22:44559842	protein	.,.,.,.
chr22:44559842	worst	intronic
chr22:44559842	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44559842	nvar	1
chr22:44559842	var	chr22:44559842:A/G
chr22:44564507	allele_ref	C
chr22:44564507	allele_alt	T
chr22:44564507	seqdb_ref	C
chr22:44564507	snp_fw_seq3	CCA/CTA
chr22:44564507	snp_rv_seq3	TGG/TAG
chr22:44564507	func	silent,silent,silent,silent
chr22:44564507	transcript	NM_001003828,NM_001243385,NM_001243386,NM_013327
chr22:44564507	genomic	.,.,.,.
chr22:44564507	codon	.,.,.,.
chr22:44564507	protein	.,.,.,.
chr22:44564507	worst	silent
chr22:44564507	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44564507	nvar	1
chr22:44564507	var	chr22:44564507:C/T
chr22:44586522	allele_ref	C
chr22:44586522	allele_alt	T
chr22:44586522	seqdb_ref	C
chr22:44586522	snp_fw_seq3	TCC/TTC
chr22:44586522	snp_rv_seq3	GGA/GAA
chr22:44586522	func	silent,silent,silent
chr22:44586522	transcript	NM_001137605,NM_001137606,NM_022141
chr22:44586522	genomic	.,.,.
chr22:44586522	codon	.,.,.
chr22:44586522	protein	.,.,.
chr22:44586522	worst	silent
chr22:44586522	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44586522	nvar	1
chr22:44586522	var	chr22:44586522:C/T
chr22:44589736	allele_ref	C
chr22:44589736	allele_alt	T
chr22:44589736	seqdb_ref	C
chr22:44589736	snp_fw_seq3	TCC/TTC
chr22:44589736	snp_rv_seq3	GGA/GAA
chr22:44589736	func	intronic,intronic,intronic
chr22:44589736	transcript	NM_001137605,NM_001137606,NM_022141
chr22:44589736	genomic	.,.,.
chr22:44589736	codon	.,.,.
chr22:44589736	protein	.,.,.
chr22:44589736	worst	intronic
chr22:44589736	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44589736	nvar	1
chr22:44589736	var	chr22:44589736:C/T
chr22:44594476	allele_ref	T
chr22:44594476	allele_alt	C
chr22:44594476	seqdb_ref	t
chr22:44594476	snp_fw_seq3	att/aCt
chr22:44594476	snp_rv_seq3	aat/aGt
chr22:44594476	func	intronic,intronic,intronic
chr22:44594476	transcript	NM_001137605,NM_001137606,NM_022141
chr22:44594476	genomic	.,.,.
chr22:44594476	codon	.,.,.
chr22:44594476	protein	.,.,.
chr22:44594476	worst	intronic
chr22:44594476	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44594476	nvar	1
chr22:44594476	var	chr22:44594476:T/C
chr22:44594584	allele_ref	C
chr22:44594584	allele_alt	G
chr22:44594584	seqdb_ref	C
chr22:44594584	snp_fw_seq3	CCA/CGA
chr22:44594584	snp_rv_seq3	TGG/TCG
chr22:44594584	func	silent,silent,silent
chr22:44594584	transcript	NM_001137605,NM_001137606,NM_022141
chr22:44594584	genomic	.,.,.
chr22:44594584	codon	.,.,.
chr22:44594584	protein	.,.,.
chr22:44594584	worst	silent
chr22:44594584	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44594584	nvar	1
chr22:44594584	var	chr22:44594584:C/G
chr22:44602229	allele_ref	A
chr22:44602229	allele_alt	C
chr22:44602229	seqdb_ref	A
chr22:44602229	snp_fw_seq3	GAG/GCG
chr22:44602229	snp_rv_seq3	CTC/CGC
chr22:44602229	func	silent,silent,silent
chr22:44602229	transcript	NM_001137605,NM_001137606,NM_022141
chr22:44602229	genomic	.,.,.
chr22:44602229	codon	.,.,.
chr22:44602229	protein	.,.,.
chr22:44602229	worst	silent
chr22:44602229	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44602229	nvar	1
chr22:44602229	var	chr22:44602229:A/C
chr22:44681612	allele_ref	A
chr22:44681612	allele_alt	G
chr22:44681612	seqdb_ref	A
chr22:44681612	snp_fw_seq3	AAG/AGG
chr22:44681612	snp_rv_seq3	CTT/CCT
chr22:44681612	func	silent
chr22:44681612	transcript	NM_001099294
chr22:44681612	genomic	.
chr22:44681612	codon	.
chr22:44681612	protein	.
chr22:44681612	worst	silent
chr22:44681612	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44681612	nvar	1
chr22:44681612	var	chr22:44681612:A/G
chr22:44681613	allele_ref	G
chr22:44681613	allele_alt	A
chr22:44681613	seqdb_ref	G
chr22:44681613	snp_fw_seq3	AGG/AAG
chr22:44681613	snp_rv_seq3	CCT/CTT
chr22:44681613	func	silent
chr22:44681613	transcript	NM_001099294
chr22:44681613	genomic	.
chr22:44681613	codon	.
chr22:44681613	protein	.
chr22:44681613	worst	silent
chr22:44681613	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44681613	nvar	1
chr22:44681613	var	chr22:44681613:G/A
chr22:44681644	allele_ref	G
chr22:44681644	allele_alt	T
chr22:44681644	seqdb_ref	G
chr22:44681644	snp_fw_seq3	GGG/GTG
chr22:44681644	snp_rv_seq3	CCC/CAC
chr22:44681644	func	intronic
chr22:44681644	transcript	NM_001099294
chr22:44681644	genomic	.
chr22:44681644	codon	.
chr22:44681644	protein	.
chr22:44681644	worst	intronic
chr22:44681644	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44681644	nvar	1
chr22:44681644	var	chr22:44681644:G/T
chr22:44692540	allele_ref	A
chr22:44692540	allele_alt	G
chr22:44692540	seqdb_ref	A
chr22:44692540	snp_fw_seq3	GAG/GGG
chr22:44692540	snp_rv_seq3	CTC/CCC
chr22:44692540	func	intronic
chr22:44692540	transcript	NM_001099294
chr22:44692540	genomic	.
chr22:44692540	codon	.
chr22:44692540	protein	.
chr22:44692540	worst	intronic
chr22:44692540	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44692540	nvar	1
chr22:44692540	var	chr22:44692540:A/G
chr22:44692800	allele_ref	C
chr22:44692800	allele_alt	G
chr22:44692800	seqdb_ref	C
chr22:44692800	snp_fw_seq3	CCT/CGT
chr22:44692800	snp_rv_seq3	AGG/ACG
chr22:44692800	func	intronic
chr22:44692800	transcript	NM_001099294
chr22:44692800	genomic	.
chr22:44692800	codon	.
chr22:44692800	protein	.
chr22:44692800	worst	intronic
chr22:44692800	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44692800	nvar	1
chr22:44692800	var	chr22:44692800:C/G
chr22:44893302	allele_ref	G
chr22:44893302	allele_alt	T
chr22:44893302	seqdb_ref	G
chr22:44893302	snp_fw_seq3	GGG/GTG
chr22:44893302	snp_rv_seq3	CCC/CAC
chr22:44893302	func	silent
chr22:44893302	transcript	NM_032287
chr22:44893302	genomic	.
chr22:44893302	codon	.
chr22:44893302	protein	.
chr22:44893302	worst	silent
chr22:44893302	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:44893302	nvar	1
chr22:44893302	var	chr22:44893302:G/T
chr22:45110464	allele_ref	C
chr22:45110464	allele_alt	A
chr22:45110464	seqdb_ref	C
chr22:45110464	snp_fw_seq3	GCC/GAC
chr22:45110464	snp_rv_seq3	GGC/GTC
chr22:45110464	func	intronic,intronic,intronic,intronic,intronic,intronic,intronic
chr22:45110464	transcript	NM_001017528,NM_001017529,NM_001017530,NM_001198721,NM_015366,NM_181333,NM_181334
chr22:45110464	genomic	.,.,.,.,.,.,.
chr22:45110464	codon	.,.,.,.,.,.,.
chr22:45110464	protein	.,.,.,.,.,.,.
chr22:45110464	worst	intronic
chr22:45110464	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=7,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45110464	nvar	1
chr22:45110464	var	chr22:45110464:C/A
chr22:45121097	allele_ref	C
chr22:45121097	allele_alt	T
chr22:45121097	seqdb_ref	C
chr22:45121097	snp_fw_seq3	TCA/TTA
chr22:45121097	snp_rv_seq3	TGA/TAA
chr22:45121097	func	intronic,intronic,intronic,intronic,intronic,intronic,intronic
chr22:45121097	transcript	NM_001017528,NM_001017529,NM_001017530,NM_001198721,NM_015366,NM_181333,NM_181334
chr22:45121097	genomic	.,.,.,.,.,.,.
chr22:45121097	codon	.,.,.,.,.,.,.
chr22:45121097	protein	.,.,.,.,.,.,.
chr22:45121097	worst	intronic
chr22:45121097	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=7,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45121097	nvar	1
chr22:45121097	var	chr22:45121097:C/T
chr22:45127739	allele_ref	C
chr22:45127739	allele_alt	T
chr22:45127739	seqdb_ref	C
chr22:45127739	snp_fw_seq3	CCC/CTC
chr22:45127739	snp_rv_seq3	GGG/GAG
chr22:45127739	func	intronic,intronic,intronic,intronic,intronic,intronic,intronic
chr22:45127739	transcript	NM_001017528,NM_001017529,NM_001017530,NM_001198721,NM_015366,NM_181333,NM_181334
chr22:45127739	genomic	.,.,.,.,.,.,.
chr22:45127739	codon	.,.,.,.,.,.,.
chr22:45127739	protein	.,.,.,.,.,.,.
chr22:45127739	worst	intronic
chr22:45127739	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=7,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45127739	nvar	1
chr22:45127739	var	chr22:45127739:C/T
chr22:45128232	allele_ref	T
chr22:45128232	allele_alt	C
chr22:45128232	seqdb_ref	T
chr22:45128232	snp_fw_seq3	GTG/GCG
chr22:45128232	snp_rv_seq3	CAC/CGC
chr22:45128232	func	silent,silent,silent,silent,silent,silent,intronic
chr22:45128232	transcript	NM_001017528,NM_001017529,NM_001017530,NM_001198721,NM_015366,NM_181333,NM_181334
chr22:45128232	genomic	.,.,.,.,.,.,.
chr22:45128232	codon	.,.,.,.,.,.,.
chr22:45128232	protein	.,.,.,.,.,.,.
chr22:45128232	worst	silent
chr22:45128232	class	silent,NON=0,SL=0,MIS=0,SYN=6,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45128232	nvar	1
chr22:45128232	var	chr22:45128232:T/C
chr22:45128288	allele_ref	G
chr22:45128288	allele_alt	C
chr22:45128288	seqdb_ref	G
chr22:45128288	snp_fw_seq3	AGA/ACA
chr22:45128288	snp_rv_seq3	TCT/TGT
chr22:45128288	func	intronic,intronic,intronic,intronic,intronic,intronic,intronic
chr22:45128288	transcript	NM_001017528,NM_001017529,NM_001017530,NM_001198721,NM_015366,NM_181333,NM_181334
chr22:45128288	genomic	.,.,.,.,.,.,.
chr22:45128288	codon	.,.,.,.,.,.,.
chr22:45128288	protein	.,.,.,.,.,.,.
chr22:45128288	worst	intronic
chr22:45128288	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=7,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45128288	nvar	1
chr22:45128288	var	chr22:45128288:G/C
chr22:45131053	allele_ref	G
chr22:45131053	allele_alt	A
chr22:45131053	seqdb_ref	G
chr22:45131053	snp_fw_seq3	CGC/CAC
chr22:45131053	snp_rv_seq3	GCG/GTG
chr22:45131053	func	intronic,intronic,intronic,intronic,intronic,intronic,intronic
chr22:45131053	transcript	NM_001017528,NM_001017529,NM_001017530,NM_001198721,NM_015366,NM_181333,NM_181334
chr22:45131053	genomic	.,.,.,.,.,.,.
chr22:45131053	codon	.,.,.,.,.,.,.
chr22:45131053	protein	.,.,.,.,.,.,.
chr22:45131053	worst	intronic
chr22:45131053	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=7,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45131053	nvar	1
chr22:45131053	var	chr22:45131053:G/A
chr22:45131092	allele_ref	C
chr22:45131092	allele_alt	T
chr22:45131092	seqdb_ref	C
chr22:45131092	snp_fw_seq3	CCA/CTA
chr22:45131092	snp_rv_seq3	TGG/TAG
chr22:45131092	func	intronic,intronic,intronic,intronic,intronic,intronic,intronic
chr22:45131092	transcript	NM_001017528,NM_001017529,NM_001017530,NM_001198721,NM_015366,NM_181333,NM_181334
chr22:45131092	genomic	.,.,.,.,.,.,.
chr22:45131092	codon	.,.,.,.,.,.,.
chr22:45131092	protein	.,.,.,.,.,.,.
chr22:45131092	worst	intronic
chr22:45131092	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=7,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45131092	nvar	1
chr22:45131092	var	chr22:45131092:C/T
chr22:45132638	allele_ref	G
chr22:45132638	allele_alt	A
chr22:45132638	seqdb_ref	G
chr22:45132638	snp_fw_seq3	CGT/CAT
chr22:45132638	snp_rv_seq3	ACG/ATG
chr22:45132638	func	intronic,intronic,intronic,intronic,intronic,intronic,intronic
chr22:45132638	transcript	NM_001017528,NM_001017529,NM_001017530,NM_001198721,NM_015366,NM_181333,NM_181334
chr22:45132638	genomic	.,.,.,.,.,.,.
chr22:45132638	codon	.,.,.,.,.,.,.
chr22:45132638	protein	.,.,.,.,.,.,.
chr22:45132638	worst	intronic
chr22:45132638	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=7,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45132638	nvar	1
chr22:45132638	var	chr22:45132638:G/A
chr22:45132687	allele_ref	G
chr22:45132687	allele_alt	A
chr22:45132687	seqdb_ref	G
chr22:45132687	snp_fw_seq3	CGT/CAT
chr22:45132687	snp_rv_seq3	ACG/ATG
chr22:45132687	func	missense,missense,missense,missense,missense,missense,intronic
chr22:45132687	transcript	NM_001017528,NM_001017529,NM_001017530,NM_001198721,NM_015366,NM_181333,NM_181334
chr22:45132687	genomic	g.700G>A,g.442G>A,g.442G>A,g.796G>A,g.700G>A,g.727G>A,.
chr22:45132687	codon	c.700GTG>ATG,c.442GTG>ATG,c.442GTG>ATG,c.796GTG>ATG,c.700GTG>ATG,c.727GTG>ATG,.
chr22:45132687	protein	p.234V>M,p.148V>M,p.148V>M,p.266V>M,p.234V>M,p.243V>M,.
chr22:45132687	worst	missense
chr22:45132687	class	missense,NON=0,SL=0,MIS=6,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45132687	nvar	1
chr22:45132687	var	chr22:45132687:G/A
chr22:45132704	allele_ref	T
chr22:45132704	allele_alt	C
chr22:45132704	seqdb_ref	T
chr22:45132704	snp_fw_seq3	CTG/CCG
chr22:45132704	snp_rv_seq3	CAG/CGG
chr22:45132704	func	silent,silent,silent,silent,silent,silent,intronic
chr22:45132704	transcript	NM_001017528,NM_001017529,NM_001017530,NM_001198721,NM_015366,NM_181333,NM_181334
chr22:45132704	genomic	.,.,.,.,.,.,.
chr22:45132704	codon	.,.,.,.,.,.,.
chr22:45132704	protein	.,.,.,.,.,.,.
chr22:45132704	worst	silent
chr22:45132704	class	silent,NON=0,SL=0,MIS=0,SYN=6,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45132704	nvar	1
chr22:45132704	var	chr22:45132704:T/C
chr22:45132785	allele_ref	T
chr22:45132785	allele_alt	C
chr22:45132785	seqdb_ref	T
chr22:45132785	snp_fw_seq3	GTA/GCA
chr22:45132785	snp_rv_seq3	TAC/TGC
chr22:45132785	func	silent,silent,silent,silent,silent,silent,intronic
chr22:45132785	transcript	NM_001017528,NM_001017529,NM_001017530,NM_001198721,NM_015366,NM_181333,NM_181334
chr22:45132785	genomic	.,.,.,.,.,.,.
chr22:45132785	codon	.,.,.,.,.,.,.
chr22:45132785	protein	.,.,.,.,.,.,.
chr22:45132785	worst	silent
chr22:45132785	class	silent,NON=0,SL=0,MIS=0,SYN=6,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45132785	nvar	1
chr22:45132785	var	chr22:45132785:T/C
chr22:45132896	allele_ref	G
chr22:45132896	allele_alt	A
chr22:45132896	seqdb_ref	G
chr22:45132896	snp_fw_seq3	CGC/CAC
chr22:45132896	snp_rv_seq3	GCG/GTG
chr22:45132896	func	silent,silent,silent,silent,silent,silent,intronic
chr22:45132896	transcript	NM_001017528,NM_001017529,NM_001017530,NM_001198721,NM_015366,NM_181333,NM_181334
chr22:45132896	genomic	.,.,.,.,.,.,.
chr22:45132896	codon	.,.,.,.,.,.,.
chr22:45132896	protein	.,.,.,.,.,.,.
chr22:45132896	worst	silent
chr22:45132896	class	silent,NON=0,SL=0,MIS=0,SYN=6,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45132896	nvar	1
chr22:45132896	var	chr22:45132896:G/A
chr22:45198009	allele_ref	A
chr22:45198009	allele_alt	G
chr22:45198009	seqdb_ref	A
chr22:45198009	snp_fw_seq3	CAC/CGC
chr22:45198009	snp_rv_seq3	GTG/GCG
chr22:45198009	func	silent,silent,silent,silent
chr22:45198009	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45198009	genomic	.,.,.,.
chr22:45198009	codon	.,.,.,.
chr22:45198009	protein	.,.,.,.
chr22:45198009	worst	silent
chr22:45198009	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45198009	nvar	1
chr22:45198009	var	chr22:45198009:A/G
chr22:45204235	allele_ref	C
chr22:45204235	allele_alt	A
chr22:45204235	seqdb_ref	C
chr22:45204235	snp_fw_seq3	TCG/TAG
chr22:45204235	snp_rv_seq3	CGA/CTA
chr22:45204235	func	silent,silent,silent,silent
chr22:45204235	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45204235	genomic	.,.,.,.
chr22:45204235	codon	.,.,.,.
chr22:45204235	protein	.,.,.,.
chr22:45204235	worst	silent
chr22:45204235	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45204235	nvar	1
chr22:45204235	var	chr22:45204235:C/A
chr22:45210666	allele_ref	G
chr22:45210666	allele_alt	A
chr22:45210666	seqdb_ref	G
chr22:45210666	snp_fw_seq3	CGC/CAC
chr22:45210666	snp_rv_seq3	GCG/GTG
chr22:45210666	func	intronic,intronic,intronic,intronic
chr22:45210666	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45210666	genomic	.,.,.,.
chr22:45210666	codon	.,.,.,.
chr22:45210666	protein	.,.,.,.
chr22:45210666	worst	intronic
chr22:45210666	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45210666	nvar	1
chr22:45210666	var	chr22:45210666:G/A
chr22:45210675	allele_ref	G
chr22:45210675	allele_alt	A
chr22:45210675	seqdb_ref	G
chr22:45210675	snp_fw_seq3	TGG/TAG
chr22:45210675	snp_rv_seq3	CCA/CTA
chr22:45210675	func	intronic,intronic,intronic,intronic
chr22:45210675	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45210675	genomic	.,.,.,.
chr22:45210675	codon	.,.,.,.
chr22:45210675	protein	.,.,.,.
chr22:45210675	worst	intronic
chr22:45210675	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45210675	nvar	1
chr22:45210675	var	chr22:45210675:G/A
chr22:45210685	allele_ref	C
chr22:45210685	allele_alt	T
chr22:45210685	seqdb_ref	C
chr22:45210685	snp_fw_seq3	ACC/ATC
chr22:45210685	snp_rv_seq3	GGT/GAT
chr22:45210685	func	intronic,intronic,intronic,intronic
chr22:45210685	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45210685	genomic	.,.,.,.
chr22:45210685	codon	.,.,.,.
chr22:45210685	protein	.,.,.,.
chr22:45210685	worst	intronic
chr22:45210685	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45210685	nvar	1
chr22:45210685	var	chr22:45210685:C/T
chr22:45218223	allele_ref	C
chr22:45218223	allele_alt	T
chr22:45218223	seqdb_ref	C
chr22:45218223	snp_fw_seq3	TCT/TTT
chr22:45218223	snp_rv_seq3	AGA/AAA
chr22:45218223	func	intronic,intronic,intronic,intronic
chr22:45218223	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45218223	genomic	.,.,.,.
chr22:45218223	codon	.,.,.,.
chr22:45218223	protein	.,.,.,.
chr22:45218223	worst	intronic
chr22:45218223	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45218223	nvar	1
chr22:45218223	var	chr22:45218223:C/T
chr22:45218286	allele_ref	A
chr22:45218286	allele_alt	G
chr22:45218286	seqdb_ref	A
chr22:45218286	snp_fw_seq3	TAC/TGC
chr22:45218286	snp_rv_seq3	GTA/GCA
chr22:45218286	func	missense,missense,missense,missense
chr22:45218286	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45218286	genomic	g.515A>G,g.422A>G,g.788A>G,g.422A>G
chr22:45218286	codon	c.515TAC>TGC,c.422TAC>TGC,c.788TAC>TGC,c.422TAC>TGC
chr22:45218286	protein	p.172Y>C,p.141Y>C,p.263Y>C,p.141Y>C
chr22:45218286	worst	missense
chr22:45218286	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45218286	nvar	1
chr22:45218286	var	chr22:45218286:A/G
chr22:45221404	allele_ref	C
chr22:45221404	allele_alt	T
chr22:45221404	seqdb_ref	C
chr22:45221404	snp_fw_seq3	CCG/CTG
chr22:45221404	snp_rv_seq3	CGG/CAG
chr22:45221404	func	missense,missense,missense,missense
chr22:45221404	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45221404	genomic	g.620C>T,g.527C>T,g.893C>T,g.527C>T
chr22:45221404	codon	c.620CCG>CTG,c.527CCG>CTG,c.893CCG>CTG,c.527CCG>CTG
chr22:45221404	protein	p.207P>L,p.176P>L,p.298P>L,p.176P>L
chr22:45221404	worst	missense
chr22:45221404	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45221404	nvar	1
chr22:45221404	var	chr22:45221404:C/T
chr22:45221423	allele_ref	A
chr22:45221423	allele_alt	T
chr22:45221423	seqdb_ref	A
chr22:45221423	snp_fw_seq3	CAC/CTC
chr22:45221423	snp_rv_seq3	GTG/GAG
chr22:45221423	func	silent,silent,silent,silent
chr22:45221423	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45221423	genomic	.,.,.,.
chr22:45221423	codon	.,.,.,.
chr22:45221423	protein	.,.,.,.
chr22:45221423	worst	silent
chr22:45221423	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45221423	nvar	1
chr22:45221423	var	chr22:45221423:A/T
chr22:45241206	allele_ref	G
chr22:45241206	allele_alt	A
chr22:45241206	seqdb_ref	G
chr22:45241206	snp_fw_seq3	CGT/CAT
chr22:45241206	snp_rv_seq3	ACG/ATG
chr22:45241206	func	silent,silent,silent,silent
chr22:45241206	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45241206	genomic	.,.,.,.
chr22:45241206	codon	.,.,.,.
chr22:45241206	protein	.,.,.,.
chr22:45241206	worst	silent
chr22:45241206	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45241206	nvar	1
chr22:45241206	var	chr22:45241206:G/A
chr22:45243920	allele_ref	C
chr22:45243920	allele_alt	A
chr22:45243920	seqdb_ref	C
chr22:45243920	snp_fw_seq3	TCT/TAT
chr22:45243920	snp_rv_seq3	AGA/ATA
chr22:45243920	func	silent,silent,silent,silent
chr22:45243920	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45243920	genomic	.,.,.,.
chr22:45243920	codon	.,.,.,.
chr22:45243920	protein	.,.,.,.
chr22:45243920	worst	silent
chr22:45243920	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45243920	nvar	1
chr22:45243920	var	chr22:45243920:C/A
chr22:45244782	allele_ref	G
chr22:45244782	allele_alt	C
chr22:45244782	seqdb_ref	G
chr22:45244782	snp_fw_seq3	AGA/ACA
chr22:45244782	snp_rv_seq3	TCT/TGT
chr22:45244782	func	intronic,intronic,intronic,intronic
chr22:45244782	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45244782	genomic	.,.,.,.
chr22:45244782	codon	.,.,.,.
chr22:45244782	protein	.,.,.,.
chr22:45244782	worst	intronic
chr22:45244782	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45244782	nvar	1
chr22:45244782	var	chr22:45244782:G/C
chr22:45244930	allele_ref	C
chr22:45244930	allele_alt	T
chr22:45244930	seqdb_ref	C
chr22:45244930	snp_fw_seq3	TCG/TTG
chr22:45244930	snp_rv_seq3	CGA/CAA
chr22:45244930	func	silent,silent,silent,silent
chr22:45244930	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45244930	genomic	.,.,.,.
chr22:45244930	codon	.,.,.,.
chr22:45244930	protein	.,.,.,.
chr22:45244930	worst	silent
chr22:45244930	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45244930	nvar	1
chr22:45244930	var	chr22:45244930:C/T
chr22:45244945	allele_ref	G
chr22:45244945	allele_alt	A
chr22:45244945	seqdb_ref	G
chr22:45244945	snp_fw_seq3	CGT/CAT
chr22:45244945	snp_rv_seq3	ACG/ATG
chr22:45244945	func	intronic,splice,intronic,splice,intronic,splice,intronic,splice
chr22:45244945	annot_details	DIST=5,NMD=0,OFPTV=1,EXIN=11,ISEQ=GTGCGT,ESEQ=TCACCT,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS11+5G>A,DIST=5,NMD=0,OFPTV=1,EXIN=10,ISEQ=GTGCGT,ESEQ=TCACCT,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS10+5G>A,DIST=5,NMD=0,OFPTV=1,EXIN=13,ISEQ=GTGCGT,ESEQ=TCACCT,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS13+5G>A,DIST=5,NMD=0,OFPTV=1,EXIN=10,ISEQ=GTGCGT,ESEQ=TCACCT,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS10+5G>A
chr22:45244945	transcript	NM_001017526,NM_001017526,NM_001198726,NM_001198726,NM_181334,NM_181334,NM_181335,NM_181335
chr22:45244945	genomic	.,.,.,.,.,.,.,.
chr22:45244945	codon	.,.,.,.,.,.,.,.
chr22:45244945	protein	.,.,.,.,.,.,.,.
chr22:45244945	worst	splice
chr22:45244945	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=4,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45244945	nvar	1
chr22:45244945	var	chr22:45244945:G/A
chr22:45244967	allele_ref	G
chr22:45244967	allele_alt	T
chr22:45244967	seqdb_ref	G
chr22:45244967	snp_fw_seq3	TGG/TTG
chr22:45244967	snp_rv_seq3	CCA/CAA
chr22:45244967	func	intronic,intronic,intronic,intronic
chr22:45244967	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45244967	genomic	.,.,.,.
chr22:45244967	codon	.,.,.,.
chr22:45244967	protein	.,.,.,.
chr22:45244967	worst	intronic
chr22:45244967	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45244967	nvar	1
chr22:45244967	var	chr22:45244967:G/T
chr22:45255580	allele_ref	G
chr22:45255580	allele_alt	C
chr22:45255580	seqdb_ref	G
chr22:45255580	snp_fw_seq3	GGA/GCA
chr22:45255580	snp_rv_seq3	TCC/TGC
chr22:45255580	func	intronic,intronic,intronic,intronic
chr22:45255580	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45255580	genomic	.,.,.,.
chr22:45255580	codon	.,.,.,.
chr22:45255580	protein	.,.,.,.
chr22:45255580	worst	intronic
chr22:45255580	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45255580	nvar	1
chr22:45255580	var	chr22:45255580:G/C
chr22:45255599	allele_ref	A
chr22:45255599	allele_alt	C
chr22:45255599	seqdb_ref	A
chr22:45255599	snp_fw_seq3	CAT/CCT
chr22:45255599	snp_rv_seq3	ATG/AGG
chr22:45255599	func	intronic,intronic,intronic,intronic
chr22:45255599	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45255599	genomic	.,.,.,.
chr22:45255599	codon	.,.,.,.
chr22:45255599	protein	.,.,.,.
chr22:45255599	worst	intronic
chr22:45255599	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45255599	nvar	1
chr22:45255599	var	chr22:45255599:A/C
chr22:45255619	allele_ref	A
chr22:45255619	allele_alt	C
chr22:45255619	seqdb_ref	A
chr22:45255619	snp_fw_seq3	GAG/GCG
chr22:45255619	snp_rv_seq3	CTC/CGC
chr22:45255619	func	missense,intronic,missense,missense
chr22:45255619	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45255619	genomic	g.979A>C,.,g.1252A>C,g.886A>C
chr22:45255619	codon	c.979AGC>CGC,.,c.1252AGC>CGC,c.886AGC>CGC
chr22:45255619	protein	p.327S>R,.,p.418S>R,p.296S>R
chr22:45255619	worst	missense
chr22:45255619	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45255619	nvar	1
chr22:45255619	var	chr22:45255619:A/C
chr22:45255628	allele_ref	C
chr22:45255628	allele_alt	T
chr22:45255628	seqdb_ref	C
chr22:45255628	snp_fw_seq3	GCG/GTG
chr22:45255628	snp_rv_seq3	CGC/CAC
chr22:45255628	func	missense,intronic,missense,missense
chr22:45255628	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45255628	genomic	g.988C>T,.,g.1261C>T,g.895C>T
chr22:45255628	codon	c.988CGT>TGT,.,c.1261CGT>TGT,c.895CGT>TGT
chr22:45255628	protein	p.330R>C,.,p.421R>C,p.299R>C
chr22:45255628	worst	missense
chr22:45255628	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45255628	nvar	1
chr22:45255628	var	chr22:45255628:C/T
chr22:45255630	allele_ref	T
chr22:45255630	allele_alt	C
chr22:45255630	seqdb_ref	T
chr22:45255630	snp_fw_seq3	GTG/GCG
chr22:45255630	snp_rv_seq3	CAC/CGC
chr22:45255630	func	silent,intronic,silent,silent
chr22:45255630	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45255630	genomic	.,.,.,.
chr22:45255630	codon	.,.,.,.
chr22:45255630	protein	.,.,.,.
chr22:45255630	worst	silent
chr22:45255630	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45255630	nvar	1
chr22:45255630	var	chr22:45255630:T/C
chr22:45255637	allele_ref	G
chr22:45255637	allele_alt	C
chr22:45255637	seqdb_ref	G
chr22:45255637	snp_fw_seq3	TGG/TCG
chr22:45255637	snp_rv_seq3	CCA/CGA
chr22:45255637	func	missense,intronic,missense,missense
chr22:45255637	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45255637	genomic	g.997G>C,.,g.1270G>C,g.904G>C
chr22:45255637	codon	c.997GGC>CGC,.,c.1270GGC>CGC,c.904GGC>CGC
chr22:45255637	protein	p.333G>R,.,p.424G>R,p.302G>R
chr22:45255637	worst	missense
chr22:45255637	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45255637	nvar	1
chr22:45255637	var	chr22:45255637:G/C
chr22:45255687	allele_ref	C
chr22:45255687	allele_alt	T
chr22:45255687	seqdb_ref	C
chr22:45255687	snp_fw_seq3	TCC/TTC
chr22:45255687	snp_rv_seq3	GGA/GAA
chr22:45255687	func	silent,intronic,silent,silent
chr22:45255687	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45255687	genomic	.,.,.,.
chr22:45255687	codon	.,.,.,.
chr22:45255687	protein	.,.,.,.
chr22:45255687	worst	silent
chr22:45255687	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45255687	nvar	1
chr22:45255687	var	chr22:45255687:C/T
chr22:45255713	allele_ref	C
chr22:45255713	allele_alt	T
chr22:45255713	seqdb_ref	C
chr22:45255713	snp_fw_seq3	GCG/GTG
chr22:45255713	snp_rv_seq3	CGC/CAC
chr22:45255713	func	splice,missense,intronic,splice,missense,splice,missense
chr22:45255713	annot_details	DIST=-1,NMD=0,OFPTV=1,EXIN=12,ISEQ=GTGAGT,ESEQ=CATGCG,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS12+-1C>T,DIST=-1,NMD=0,OFPTV=1,EXIN=14,ISEQ=GTGAGT,ESEQ=CATGCG,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS14+-1C>T,DIST=-1,NMD=0,OFPTV=1,EXIN=11,ISEQ=GTGAGT,ESEQ=CATGCG,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS11+-1C>T
chr22:45255713	transcript	NM_001017526,NM_001017526,NM_001198726,NM_181334,NM_181334,NM_181335,NM_181335
chr22:45255713	genomic	.,g.1073C>T,.,.,g.1346C>T,.,g.980C>T
chr22:45255713	codon	.,c.1073GCG>GTG,.,.,c.1346GCG>GTG,.,c.980GCG>GTG
chr22:45255713	protein	.,p.358A>V,.,.,p.449A>V,.,p.327A>V
chr22:45255713	worst	missense
chr22:45255713	class	mixed,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=3,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45255713	nvar	1
chr22:45255713	var	chr22:45255713:C/T
chr22:45255714	allele_ref	G
chr22:45255714	allele_alt	A
chr22:45255714	seqdb_ref	G
chr22:45255714	snp_fw_seq3	CGG/CAG
chr22:45255714	snp_rv_seq3	CCG/CTG
chr22:45255714	func	silent,splice,intronic,silent,splice,silent,splice
chr22:45255714	annot_details	DIST=0,NMD=0,OFPTV=1,EXIN=12,ISEQ=GTGAGT,ESEQ=CATGCG,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS12+0G>A,DIST=0,NMD=0,OFPTV=1,EXIN=14,ISEQ=GTGAGT,ESEQ=CATGCG,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS14+0G>A,DIST=0,NMD=0,OFPTV=1,EXIN=11,ISEQ=GTGAGT,ESEQ=CATGCG,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS11+0G>A
chr22:45255714	transcript	NM_001017526,NM_001017526,NM_001198726,NM_181334,NM_181334,NM_181335,NM_181335
chr22:45255714	genomic	.,.,.,.,.,.,.
chr22:45255714	codon	.,.,.,.,.,.,.
chr22:45255714	protein	.,.,.,.,.,.,.
chr22:45255714	worst	splice
chr22:45255714	class	mixed,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=3,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45255714	nvar	1
chr22:45255714	var	chr22:45255714:G/A
chr22:45255727	allele_ref	G
chr22:45255727	allele_alt	C
chr22:45255727	seqdb_ref	G
chr22:45255727	snp_fw_seq3	AGG/ACG
chr22:45255727	snp_rv_seq3	CCT/CGT
chr22:45255727	func	intronic,intronic,intronic,intronic
chr22:45255727	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45255727	genomic	.,.,.,.
chr22:45255727	codon	.,.,.,.
chr22:45255727	protein	.,.,.,.
chr22:45255727	worst	intronic
chr22:45255727	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45255727	nvar	1
chr22:45255727	var	chr22:45255727:G/C
chr22:45255751	allele_ref	G
chr22:45255751	allele_alt	T
chr22:45255751	seqdb_ref	G
chr22:45255751	snp_fw_seq3	AGT/ATT
chr22:45255751	snp_rv_seq3	ACT/AAT
chr22:45255751	func	intronic,intronic,intronic,intronic
chr22:45255751	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45255751	genomic	.,.,.,.
chr22:45255751	codon	.,.,.,.
chr22:45255751	protein	.,.,.,.
chr22:45255751	worst	intronic
chr22:45255751	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45255751	nvar	1
chr22:45255751	var	chr22:45255751:G/T
chr22:45258162	allele_ref	G
chr22:45258162	allele_alt	A
chr22:45258162	seqdb_ref	G
chr22:45258162	snp_fw_seq3	CGG/CAG
chr22:45258162	snp_rv_seq3	CCG/CTG
chr22:45258162	func	missense,silent,missense,missense
chr22:45258162	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45258162	genomic	g.1082G>A,.,g.1355G>A,g.989G>A
chr22:45258162	codon	c.1082CGG>CAG,.,c.1355CGG>CAG,c.989CGG>CAG
chr22:45258162	protein	p.361R>Q,.,p.452R>Q,p.330R>Q
chr22:45258162	worst	missense
chr22:45258162	class	mixed,NON=0,SL=0,MIS=3,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45258162	nvar	1
chr22:45258162	var	chr22:45258162:G/A
chr22:45258295	allele_ref	C
chr22:45258295	allele_alt	A
chr22:45258295	seqdb_ref	C
chr22:45258295	snp_fw_seq3	TCG/TAG
chr22:45258295	snp_rv_seq3	CGA/CTA
chr22:45258295	func	silent,3-UTR,silent,silent
chr22:45258295	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45258295	genomic	.,.,.,.
chr22:45258295	codon	.,.,.,.
chr22:45258295	protein	.,.,.,.
chr22:45258295	worst	silent
chr22:45258295	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:45258295	nvar	1
chr22:45258295	var	chr22:45258295:C/A
chr22:45258324	allele_ref	C
chr22:45258324	allele_alt	T
chr22:45258324	seqdb_ref	C
chr22:45258324	snp_fw_seq3	CCG/CTG
chr22:45258324	snp_rv_seq3	CGG/CAG
chr22:45258324	func	missense,3-UTR,missense,missense
chr22:45258324	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45258324	genomic	g.1244C>T,.,g.1517C>T,g.1151C>T
chr22:45258324	codon	c.1244CCG>CTG,.,c.1517CCG>CTG,c.1151CCG>CTG
chr22:45258324	protein	p.415P>L,.,p.506P>L,p.384P>L
chr22:45258324	worst	missense
chr22:45258324	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:45258324	nvar	1
chr22:45258324	var	chr22:45258324:C/T
chr22:45258333	allele_ref	C
chr22:45258333	allele_alt	G
chr22:45258333	seqdb_ref	C
chr22:45258333	snp_fw_seq3	CCT/CGT
chr22:45258333	snp_rv_seq3	AGG/ACG
chr22:45258333	func	missense,3-UTR,missense,missense
chr22:45258333	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45258333	genomic	g.1253C>G,.,g.1526C>G,g.1160C>G
chr22:45258333	codon	c.1253CCT>CGT,.,c.1526CCT>CGT,c.1160CCT>CGT
chr22:45258333	protein	p.418P>R,.,p.509P>R,p.387P>R
chr22:45258333	worst	missense
chr22:45258333	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:45258333	nvar	1
chr22:45258333	var	chr22:45258333:C/G
chr22:45258457	allele_ref	A
chr22:45258457	allele_alt	G
chr22:45258457	seqdb_ref	A
chr22:45258457	snp_fw_seq3	CAG/CGG
chr22:45258457	snp_rv_seq3	CTG/CCG
chr22:45258457	func	silent,3-UTR,silent,silent
chr22:45258457	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45258457	genomic	.,.,.,.
chr22:45258457	codon	.,.,.,.
chr22:45258457	protein	.,.,.,.
chr22:45258457	worst	silent
chr22:45258457	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:45258457	nvar	1
chr22:45258457	var	chr22:45258457:A/G
chr22:45258495	allele_ref	A
chr22:45258495	allele_alt	G
chr22:45258495	seqdb_ref	A
chr22:45258495	snp_fw_seq3	TAT/TGT
chr22:45258495	snp_rv_seq3	ATA/ACA
chr22:45258495	func	3-UTR,3-UTR,3-UTR,3-UTR
chr22:45258495	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45258495	genomic	.,.,.,.
chr22:45258495	codon	.,.,.,.
chr22:45258495	protein	.,.,.,.
chr22:45258495	worst	UTR3
chr22:45258495	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=4,npcRNA=0
chr22:45258495	nvar	1
chr22:45258495	var	chr22:45258495:A/G
chr22:45258500	allele_ref	G
chr22:45258500	allele_alt	T
chr22:45258500	seqdb_ref	G
chr22:45258500	snp_fw_seq3	CGA/CTA
chr22:45258500	snp_rv_seq3	TCG/TAG
chr22:45258500	func	3-UTR,3-UTR,3-UTR,3-UTR
chr22:45258500	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45258500	genomic	.,.,.,.
chr22:45258500	codon	.,.,.,.
chr22:45258500	protein	.,.,.,.
chr22:45258500	worst	UTR3
chr22:45258500	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=4,npcRNA=0
chr22:45258500	nvar	1
chr22:45258500	var	chr22:45258500:G/T
chr22:45258513	allele_ref	C
chr22:45258513	allele_alt	T
chr22:45258513	seqdb_ref	C
chr22:45258513	snp_fw_seq3	ACA/ATA
chr22:45258513	snp_rv_seq3	TGT/TAT
chr22:45258513	func	3-UTR,3-UTR,3-UTR,3-UTR
chr22:45258513	transcript	NM_001017526,NM_001198726,NM_181334,NM_181335
chr22:45258513	genomic	.,.,.,.
chr22:45258513	codon	.,.,.,.
chr22:45258513	protein	.,.,.,.
chr22:45258513	worst	UTR3
chr22:45258513	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=4,npcRNA=0
chr22:45258513	nvar	1
chr22:45258513	var	chr22:45258513:C/T
chr22:45279192	allele_ref	G
chr22:45279192	allele_alt	A
chr22:45279192	seqdb_ref	G
chr22:45279192	snp_fw_seq3	GGG/GAG
chr22:45279192	snp_rv_seq3	CCC/CTC
chr22:45279192	func	intronic,intronic,intronic
chr22:45279192	transcript	NM_001135862,NM_001242450,NM_138415
chr22:45279192	genomic	.,.,.
chr22:45279192	codon	.,.,.
chr22:45279192	protein	.,.,.
chr22:45279192	worst	intronic
chr22:45279192	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45279192	nvar	1
chr22:45279192	var	chr22:45279192:G/A
chr22:45283897	allele_ref	C
chr22:45283897	allele_alt	T
chr22:45283897	seqdb_ref	C
chr22:45283897	snp_fw_seq3	GCG/GTG
chr22:45283897	snp_rv_seq3	CGC/CAC
chr22:45283897	func	silent,silent,silent
chr22:45283897	transcript	NM_001135862,NM_001242450,NM_138415
chr22:45283897	genomic	.,.,.
chr22:45283897	codon	.,.,.
chr22:45283897	protein	.,.,.
chr22:45283897	worst	silent
chr22:45283897	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45283897	nvar	1
chr22:45283897	var	chr22:45283897:C/T
chr22:45283971	allele_ref	C
chr22:45283971	allele_alt	T
chr22:45283971	seqdb_ref	C
chr22:45283971	snp_fw_seq3	GCG/GTG
chr22:45283971	snp_rv_seq3	CGC/CAC
chr22:45283971	func	missense,missense,missense
chr22:45283971	transcript	NM_001135862,NM_001242450,NM_138415
chr22:45283971	genomic	g.943C>T,g.907C>T,g.1069C>T
chr22:45283971	codon	c.943GCC>ACC,c.907GCC>ACC,c.1069GCC>ACC
chr22:45283971	protein	p.315A>T,p.303A>T,p.357A>T
chr22:45283971	worst	missense
chr22:45283971	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45283971	nvar	1
chr22:45283971	var	chr22:45283971:C/T
chr22:45287218	allele_ref	T
chr22:45287218	allele_alt	C
chr22:45287218	seqdb_ref	T
chr22:45287218	snp_fw_seq3	ATA/ACA
chr22:45287218	snp_rv_seq3	TAT/TGT
chr22:45287218	func	missense,missense,missense
chr22:45287218	transcript	NM_001135862,NM_001242450,NM_138415
chr22:45287218	genomic	g.857T>C,g.821T>C,g.983T>C
chr22:45287218	codon	c.857TAT>TGT,c.821TAT>TGT,c.983TAT>TGT
chr22:45287218	protein	p.286Y>C,p.274Y>C,p.328Y>C
chr22:45287218	worst	missense
chr22:45287218	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45287218	nvar	1
chr22:45287218	var	chr22:45287218:T/C
chr22:45309653	allele_ref	C
chr22:45309653	allele_alt	T
chr22:45309653	seqdb_ref	C
chr22:45309653	snp_fw_seq3	GCA/GTA
chr22:45309653	snp_rv_seq3	TGC/TAC
chr22:45309653	func	intronic,intronic,intronic
chr22:45309653	transcript	NM_001135862,NM_001242450,NM_138415
chr22:45309653	genomic	.,.,.
chr22:45309653	codon	.,.,.
chr22:45309653	protein	.,.,.
chr22:45309653	worst	intronic
chr22:45309653	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45309653	nvar	1
chr22:45309653	var	chr22:45309653:C/T
chr22:45309685	allele_ref	G
chr22:45309685	allele_alt	A
chr22:45309685	seqdb_ref	G
chr22:45309685	snp_fw_seq3	CGG/CAG
chr22:45309685	snp_rv_seq3	CCG/CTG
chr22:45309685	func	intronic,intronic,intronic
chr22:45309685	transcript	NM_001135862,NM_001242450,NM_138415
chr22:45309685	genomic	.,.,.
chr22:45309685	codon	.,.,.
chr22:45309685	protein	.,.,.
chr22:45309685	worst	intronic
chr22:45309685	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45309685	nvar	1
chr22:45309685	var	chr22:45309685:G/A
chr22:45312113	allele_ref	T
chr22:45312113	allele_alt	C
chr22:45312113	seqdb_ref	T
chr22:45312113	snp_fw_seq3	CTG/CCG
chr22:45312113	snp_rv_seq3	CAG/CGG
chr22:45312113	func	intronic,intronic,intronic
chr22:45312113	transcript	NM_001135862,NM_001242450,NM_138415
chr22:45312113	genomic	.,.,.
chr22:45312113	codon	.,.,.
chr22:45312113	protein	.,.,.
chr22:45312113	worst	intronic
chr22:45312113	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45312113	nvar	1
chr22:45312113	var	chr22:45312113:T/C
chr22:45312124	allele_ref	G
chr22:45312124	allele_alt	A
chr22:45312124	seqdb_ref	G
chr22:45312124	snp_fw_seq3	CGC/CAC
chr22:45312124	snp_rv_seq3	GCG/GTG
chr22:45312124	func	intronic,intronic,intronic
chr22:45312124	transcript	NM_001135862,NM_001242450,NM_138415
chr22:45312124	genomic	.,.,.
chr22:45312124	codon	.,.,.
chr22:45312124	protein	.,.,.
chr22:45312124	worst	intronic
chr22:45312124	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45312124	nvar	1
chr22:45312124	var	chr22:45312124:G/A
chr22:45312244	allele_ref	G
chr22:45312244	allele_alt	A
chr22:45312244	seqdb_ref	G
chr22:45312244	snp_fw_seq3	CGG/CAG
chr22:45312244	snp_rv_seq3	CCG/CTG
chr22:45312244	func	silent,silent,silent
chr22:45312244	transcript	NM_001135862,NM_001242450,NM_138415
chr22:45312244	genomic	.,.,.
chr22:45312244	codon	.,.,.
chr22:45312244	protein	.,.,.
chr22:45312244	worst	silent
chr22:45312244	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45312244	nvar	1
chr22:45312244	var	chr22:45312244:G/A
chr22:45312274	allele_ref	G
chr22:45312274	allele_alt	A
chr22:45312274	seqdb_ref	G
chr22:45312274	snp_fw_seq3	CGT/CAT
chr22:45312274	snp_rv_seq3	ACG/ATG
chr22:45312274	func	silent,silent,silent
chr22:45312274	transcript	NM_001135862,NM_001242450,NM_138415
chr22:45312274	genomic	.,.,.
chr22:45312274	codon	.,.,.
chr22:45312274	protein	.,.,.
chr22:45312274	worst	silent
chr22:45312274	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45312274	nvar	1
chr22:45312274	var	chr22:45312274:G/A
chr22:45312345	allele_ref	C
chr22:45312345	allele_alt	T
chr22:45312345	seqdb_ref	C
chr22:45312345	snp_fw_seq3	CCG/CTG
chr22:45312345	snp_rv_seq3	CGG/CAG
chr22:45312345	func	missense,missense,missense
chr22:45312345	transcript	NM_001135862,NM_001242450,NM_138415
chr22:45312345	genomic	g.379C>T,g.343C>T,g.379C>T
chr22:45312345	codon	c.379GGC>AGC,c.343GGC>AGC,c.379GGC>AGC
chr22:45312345	protein	p.127G>S,p.115G>S,p.127G>S
chr22:45312345	worst	missense
chr22:45312345	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45312345	nvar	1
chr22:45312345	var	chr22:45312345:C/T
chr22:45404497	allele_ref	G
chr22:45404497	allele_alt	A
chr22:45404497	seqdb_ref	G
chr22:45404497	snp_fw_seq3	GGA/GAA
chr22:45404497	snp_rv_seq3	TCC/TTC
chr22:45404497	func	intronic,intronic,intronic
chr22:45404497	transcript	NM_001135862,NM_001242450,NM_138415
chr22:45404497	genomic	.,.,.
chr22:45404497	codon	.,.,.
chr22:45404497	protein	.,.,.
chr22:45404497	worst	intronic
chr22:45404497	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45404497	nvar	1
chr22:45404497	var	chr22:45404497:G/A
chr22:45405433	allele_ref	C
chr22:45405433	allele_alt	T
chr22:45405433	seqdb_ref	C
chr22:45405433	snp_fw_seq3	CCG/CTG
chr22:45405433	snp_rv_seq3	CGG/CAG
chr22:45405433	func	5-UTR,5-UTR
chr22:45405433	transcript	NM_001135862,NM_138415
chr22:45405433	genomic	.,.
chr22:45405433	codon	.,.
chr22:45405433	protein	.,.
chr22:45405433	worst	UTR5
chr22:45405433	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=2,UTR3=0,npcRNA=0
chr22:45405433	nvar	1
chr22:45405433	var	chr22:45405433:C/T
chr22:45567477	allele_ref	G
chr22:45567477	allele_alt	T
chr22:45567477	seqdb_ref	G
chr22:45567477	snp_fw_seq3	TGC/TTC
chr22:45567477	snp_rv_seq3	GCA/GAA
chr22:45567477	func	intronic,splice,intronic,splice
chr22:45567477	annot_details	DIST=-4,NMD=0,OFPTV=0,EXIN=3,ISEQ=TTGCAG,ESEQ=GTGGGA,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS3+-4G>T,DIST=-4,NMD=0,OFPTV=0,EXIN=4,ISEQ=TTGCAG,ESEQ=GTGGGA,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS4+-4G>T
chr22:45567477	transcript	NM_007172,NM_007172,NM_153645,NM_153645
chr22:45567477	genomic	.,.,.,.
chr22:45567477	codon	.,.,.,.
chr22:45567477	protein	.,.,.,.
chr22:45567477	worst	splice
chr22:45567477	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45567477	nvar	1
chr22:45567477	var	chr22:45567477:G/T
chr22:45567580	allele_ref	C
chr22:45567580	allele_alt	A
chr22:45567580	seqdb_ref	C
chr22:45567580	snp_fw_seq3	ACA/AAA
chr22:45567580	snp_rv_seq3	TGT/TTT
chr22:45567580	func	intronic,intronic
chr22:45567580	transcript	NM_007172,NM_153645
chr22:45567580	genomic	.,.
chr22:45567580	codon	.,.
chr22:45567580	protein	.,.
chr22:45567580	worst	intronic
chr22:45567580	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45567580	nvar	1
chr22:45567580	var	chr22:45567580:C/A
chr22:45574727	allele_ref	T
chr22:45574727	allele_alt	C
chr22:45574727	seqdb_ref	T
chr22:45574727	snp_fw_seq3	ATT/ACT
chr22:45574727	snp_rv_seq3	AAT/AGT
chr22:45574727	func	missense,missense
chr22:45574727	transcript	NM_007172,NM_153645
chr22:45574727	genomic	g.949T>C,g.865T>C
chr22:45574727	codon	c.949TTT>CTT,c.865TTT>CTT
chr22:45574727	protein	p.317F>L,p.289F>L
chr22:45574727	worst	missense
chr22:45574727	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45574727	nvar	1
chr22:45574727	var	chr22:45574727:T/C
chr22:45577231	allele_ref	T
chr22:45577231	allele_alt	C
chr22:45577231	seqdb_ref	T
chr22:45577231	snp_fw_seq3	ATG/ACG
chr22:45577231	snp_rv_seq3	CAT/CGT
chr22:45577231	func	silent,silent
chr22:45577231	transcript	NM_007172,NM_153645
chr22:45577231	genomic	.,.
chr22:45577231	codon	.,.
chr22:45577231	protein	.,.
chr22:45577231	worst	silent
chr22:45577231	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45577231	nvar	1
chr22:45577231	var	chr22:45577231:T/C
chr22:45579422	allele_ref	A
chr22:45579422	allele_alt	G
chr22:45579422	seqdb_ref	A
chr22:45579422	snp_fw_seq3	TAG/TGG
chr22:45579422	snp_rv_seq3	CTA/CCA
chr22:45579422	func	intronic,intronic
chr22:45579422	transcript	NM_007172,NM_153645
chr22:45579422	genomic	.,.
chr22:45579422	codon	.,.
chr22:45579422	protein	.,.
chr22:45579422	worst	intronic
chr22:45579422	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45579422	nvar	1
chr22:45579422	var	chr22:45579422:A/G
chr22:45580434	allele_ref	C
chr22:45580434	allele_alt	T
chr22:45580434	seqdb_ref	C
chr22:45580434	snp_fw_seq3	ACG/ATG
chr22:45580434	snp_rv_seq3	CGT/CAT
chr22:45580434	func	silent,silent
chr22:45580434	transcript	NM_007172,NM_153645
chr22:45580434	genomic	.,.
chr22:45580434	codon	.,.
chr22:45580434	protein	.,.
chr22:45580434	worst	silent
chr22:45580434	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45580434	nvar	1
chr22:45580434	var	chr22:45580434:C/T
chr22:45593661	allele_ref	C
chr22:45593661	allele_alt	T
chr22:45593661	seqdb_ref	C
chr22:45593661	snp_fw_seq3	GCC/GTC
chr22:45593661	snp_rv_seq3	GGC/GAC
chr22:45593661	func	intronic,intronic
chr22:45593661	transcript	NM_001009880,NM_015264
chr22:45593661	genomic	.,.
chr22:45593661	codon	.,.
chr22:45593661	protein	.,.
chr22:45593661	worst	intronic
chr22:45593661	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45593661	nvar	1
chr22:45593661	var	chr22:45593661:C/T
chr22:45593765	allele_ref	G
chr22:45593765	allele_alt	A
chr22:45593765	seqdb_ref	G
chr22:45593765	snp_fw_seq3	CGA/CAA
chr22:45593765	snp_rv_seq3	TCG/TTG
chr22:45593765	func	silent,silent
chr22:45593765	transcript	NM_001009880,NM_015264
chr22:45593765	genomic	.,.
chr22:45593765	codon	.,.
chr22:45593765	protein	.,.
chr22:45593765	worst	silent
chr22:45593765	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45593765	nvar	1
chr22:45593765	var	chr22:45593765:G/A
chr22:45595707	allele_ref	A
chr22:45595707	allele_alt	G
chr22:45595707	seqdb_ref	A
chr22:45595707	snp_fw_seq3	AAG/AGG
chr22:45595707	snp_rv_seq3	CTT/CCT
chr22:45595707	func	intronic,intronic
chr22:45595707	transcript	NM_001009880,NM_015264
chr22:45595707	genomic	.,.
chr22:45595707	codon	.,.
chr22:45595707	protein	.,.
chr22:45595707	worst	intronic
chr22:45595707	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45595707	nvar	1
chr22:45595707	var	chr22:45595707:A/G
chr22:45595721	allele_ref	A
chr22:45595721	allele_alt	G
chr22:45595721	seqdb_ref	A
chr22:45595721	snp_fw_seq3	CAC/CGC
chr22:45595721	snp_rv_seq3	GTG/GCG
chr22:45595721	func	intronic,intronic
chr22:45595721	transcript	NM_001009880,NM_015264
chr22:45595721	genomic	.,.
chr22:45595721	codon	.,.
chr22:45595721	protein	.,.
chr22:45595721	worst	intronic
chr22:45595721	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45595721	nvar	1
chr22:45595721	var	chr22:45595721:A/G
chr22:45595833	allele_ref	G
chr22:45595833	allele_alt	C
chr22:45595833	seqdb_ref	G
chr22:45595833	snp_fw_seq3	GGG/GCG
chr22:45595833	snp_rv_seq3	CCC/CGC
chr22:45595833	func	silent,silent
chr22:45595833	transcript	NM_001009880,NM_015264
chr22:45595833	genomic	.,.
chr22:45595833	codon	.,.
chr22:45595833	protein	.,.
chr22:45595833	worst	silent
chr22:45595833	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45595833	nvar	1
chr22:45595833	var	chr22:45595833:G/C
chr22:45595872	allele_ref	C
chr22:45595872	allele_alt	A
chr22:45595872	seqdb_ref	C
chr22:45595872	snp_fw_seq3	GCC/GAC
chr22:45595872	snp_rv_seq3	GGC/GTC
chr22:45595872	func	silent,silent
chr22:45595872	transcript	NM_001009880,NM_015264
chr22:45595872	genomic	.,.
chr22:45595872	codon	.,.
chr22:45595872	protein	.,.
chr22:45595872	worst	silent
chr22:45595872	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45595872	nvar	1
chr22:45595872	var	chr22:45595872:C/A
chr22:45595963	allele_ref	C
chr22:45595963	allele_alt	T
chr22:45595963	seqdb_ref	C
chr22:45595963	snp_fw_seq3	TCC/TTC
chr22:45595963	snp_rv_seq3	GGA/GAA
chr22:45595963	func	intronic,intronic
chr22:45595963	transcript	NM_001009880,NM_015264
chr22:45595963	genomic	.,.
chr22:45595963	codon	.,.
chr22:45595963	protein	.,.
chr22:45595963	worst	intronic
chr22:45595963	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45595963	nvar	1
chr22:45595963	var	chr22:45595963:C/T
chr22:45598833	allele_ref	C
chr22:45598833	allele_alt	T
chr22:45598833	seqdb_ref	C
chr22:45598833	snp_fw_seq3	ACG/ATG
chr22:45598833	snp_rv_seq3	CGT/CAT
chr22:45598833	func	intronic,intronic
chr22:45598833	transcript	NM_001009880,NM_015264
chr22:45598833	genomic	.,.
chr22:45598833	codon	.,.
chr22:45598833	protein	.,.
chr22:45598833	worst	intronic
chr22:45598833	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45598833	nvar	1
chr22:45598833	var	chr22:45598833:C/T
chr22:45599099	allele_ref	A
chr22:45599099	allele_alt	G
chr22:45599099	seqdb_ref	A
chr22:45599099	snp_fw_seq3	GAG/GGG
chr22:45599099	snp_rv_seq3	CTC/CCC
chr22:45599099	func	intronic,intronic
chr22:45599099	transcript	NM_001009880,NM_015264
chr22:45599099	genomic	.,.
chr22:45599099	codon	.,.
chr22:45599099	protein	.,.
chr22:45599099	worst	intronic
chr22:45599099	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45599099	nvar	1
chr22:45599099	var	chr22:45599099:A/G
chr22:45601611	allele_ref	G
chr22:45601611	allele_alt	A
chr22:45601611	seqdb_ref	G
chr22:45601611	snp_fw_seq3	CGT/CAT
chr22:45601611	snp_rv_seq3	ACG/ATG
chr22:45601611	func	intronic,intronic
chr22:45601611	transcript	NM_001009880,NM_015264
chr22:45601611	genomic	.,.
chr22:45601611	codon	.,.
chr22:45601611	protein	.,.
chr22:45601611	worst	intronic
chr22:45601611	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45601611	nvar	1
chr22:45601611	var	chr22:45601611:G/A
chr22:45608192	allele_ref	G
chr22:45608192	allele_alt	A
chr22:45608192	seqdb_ref	G
chr22:45608192	snp_fw_seq3	AGT/AAT
chr22:45608192	snp_rv_seq3	ACT/ATT
chr22:45608192	func	intronic,silent
chr22:45608192	transcript	NM_001009880,NM_015264
chr22:45608192	genomic	.,.
chr22:45608192	codon	.,.
chr22:45608192	protein	.,.
chr22:45608192	worst	silent
chr22:45608192	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45608192	nvar	1
chr22:45608192	var	chr22:45608192:G/A
chr22:45680870	allele_ref	G
chr22:45680870	allele_alt	C
chr22:45680870	seqdb_ref	G
chr22:45680870	snp_fw_seq3	CGC/CCC
chr22:45680870	snp_rv_seq3	GCG/GGG
chr22:45680870	func	5-UTR,5-UTR
chr22:45680870	transcript	NM_001167574,NM_006953
chr22:45680870	genomic	.,.
chr22:45680870	codon	.,.
chr22:45680870	protein	.,.
chr22:45680870	worst	UTR5
chr22:45680870	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=2,UTR3=0,npcRNA=0
chr22:45680870	nvar	1
chr22:45680870	var	chr22:45680870:G/C
chr22:45683036	allele_ref	C
chr22:45683036	allele_alt	G
chr22:45683036	seqdb_ref	C
chr22:45683036	snp_fw_seq3	CCT/CGT
chr22:45683036	snp_rv_seq3	AGG/ACG
chr22:45683036	func	intronic,intronic
chr22:45683036	transcript	NM_001167574,NM_006953
chr22:45683036	genomic	.,.
chr22:45683036	codon	.,.
chr22:45683036	protein	.,.
chr22:45683036	worst	intronic
chr22:45683036	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45683036	nvar	1
chr22:45683036	var	chr22:45683036:C/G
chr22:45683116	allele_ref	A
chr22:45683116	allele_alt	T
chr22:45683116	seqdb_ref	A
chr22:45683116	snp_fw_seq3	CAA/CTA
chr22:45683116	snp_rv_seq3	TTG/TAG
chr22:45683116	func	intronic,missense
chr22:45683116	transcript	NM_001167574,NM_006953
chr22:45683116	genomic	.,g.272A>T
chr22:45683116	codon	.,c.272CAA>CTA
chr22:45683116	protein	.,p.91Q>L
chr22:45683116	worst	missense
chr22:45683116	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45683116	nvar	1
chr22:45683116	var	chr22:45683116:A/T
chr22:45683246	allele_ref	C
chr22:45683246	allele_alt	T
chr22:45683246	seqdb_ref	C
chr22:45683246	snp_fw_seq3	TCA/TTA
chr22:45683246	snp_rv_seq3	TGA/TAA
chr22:45683246	func	intronic,silent
chr22:45683246	transcript	NM_001167574,NM_006953
chr22:45683246	genomic	.,.
chr22:45683246	codon	.,.
chr22:45683246	protein	.,.
chr22:45683246	worst	silent
chr22:45683246	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45683246	nvar	1
chr22:45683246	var	chr22:45683246:C/T
chr22:45683304	allele_ref	G
chr22:45683304	allele_alt	C
chr22:45683304	seqdb_ref	G
chr22:45683304	snp_fw_seq3	CGC/CCC
chr22:45683304	snp_rv_seq3	GCG/GGG
chr22:45683304	func	intronic,missense
chr22:45683304	transcript	NM_001167574,NM_006953
chr22:45683304	genomic	.,g.460G>C
chr22:45683304	codon	.,c.460GCA>CCA
chr22:45683304	protein	.,p.154A>P
chr22:45683304	worst	missense
chr22:45683304	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45683304	nvar	1
chr22:45683304	var	chr22:45683304:G/C
chr22:45683309	allele_ref	C
chr22:45683309	allele_alt	T
chr22:45683309	seqdb_ref	C
chr22:45683309	snp_fw_seq3	CCC/CTC
chr22:45683309	snp_rv_seq3	GGG/GAG
chr22:45683309	func	intronic,silent
chr22:45683309	transcript	NM_001167574,NM_006953
chr22:45683309	genomic	.,.
chr22:45683309	codon	.,.
chr22:45683309	protein	.,.
chr22:45683309	worst	silent
chr22:45683309	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45683309	nvar	1
chr22:45683309	var	chr22:45683309:C/T
chr22:45685002	allele_ref	A
chr22:45685002	allele_alt	G
chr22:45685002	seqdb_ref	A
chr22:45685002	snp_fw_seq3	CAG/CGG
chr22:45685002	snp_rv_seq3	CTG/CCG
chr22:45685002	func	intronic,silent
chr22:45685002	transcript	NM_001167574,NM_006953
chr22:45685002	genomic	.,.
chr22:45685002	codon	.,.
chr22:45685002	protein	.,.
chr22:45685002	worst	silent
chr22:45685002	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45685002	nvar	1
chr22:45685002	var	chr22:45685002:A/G
chr22:45685025	allele_ref	G
chr22:45685025	allele_alt	A
chr22:45685025	seqdb_ref	G
chr22:45685025	snp_fw_seq3	CGT/CAT
chr22:45685025	snp_rv_seq3	ACG/ATG
chr22:45685025	func	intronic,intronic,splice-donor-in2
chr22:45685025	annot_details	DIST=1,NMD=0,OFPTV=0,EXIN=4,ISEQ=GTAAGT,ESEQ=ACCAGC,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS4+1G>A
chr22:45685025	transcript	NM_001167574,NM_006953,NM_006953
chr22:45685025	genomic	.,.,.
chr22:45685025	codon	.,.,.
chr22:45685025	protein	.,.,.
chr22:45685025	worst	esplice
chr22:45685025	class	esplice,NON=0,SL=0,MIS=0,SYN=0,ESPL=1,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45685025	nvar	1
chr22:45685025	var	chr22:45685025:G/A
chr22:45689025	allele_ref	G
chr22:45689025	allele_alt	A
chr22:45689025	seqdb_ref	G
chr22:45689025	snp_fw_seq3	CGG/CAG
chr22:45689025	snp_rv_seq3	CCG/CTG
chr22:45689025	func	intronic,intronic
chr22:45689025	transcript	NM_001167574,NM_006953
chr22:45689025	genomic	.,.
chr22:45689025	codon	.,.
chr22:45689025	protein	.,.
chr22:45689025	worst	intronic
chr22:45689025	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45689025	nvar	1
chr22:45689025	var	chr22:45689025:G/A
chr22:45689034	allele_ref	G
chr22:45689034	allele_alt	A
chr22:45689034	seqdb_ref	G
chr22:45689034	snp_fw_seq3	GGA/GAA
chr22:45689034	snp_rv_seq3	TCC/TTC
chr22:45689034	func	intronic,intronic
chr22:45689034	transcript	NM_001167574,NM_006953
chr22:45689034	genomic	.,.
chr22:45689034	codon	.,.
chr22:45689034	protein	.,.
chr22:45689034	worst	intronic
chr22:45689034	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45689034	nvar	1
chr22:45689034	var	chr22:45689034:G/A
chr22:45689078	allele_ref	G
chr22:45689078	allele_alt	A
chr22:45689078	seqdb_ref	G
chr22:45689078	snp_fw_seq3	CGA/CAA
chr22:45689078	snp_rv_seq3	TCG/TTG
chr22:45689078	func	silent,silent
chr22:45689078	transcript	NM_001167574,NM_006953
chr22:45689078	genomic	.,.
chr22:45689078	codon	.,.
chr22:45689078	protein	.,.
chr22:45689078	worst	silent
chr22:45689078	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45689078	nvar	1
chr22:45689078	var	chr22:45689078:G/A
chr22:45689097	allele_ref	C
chr22:45689097	allele_alt	A
chr22:45689097	seqdb_ref	C
chr22:45689097	snp_fw_seq3	CCG/CAG
chr22:45689097	snp_rv_seq3	CGG/CTG
chr22:45689097	func	silent,silent
chr22:45689097	transcript	NM_001167574,NM_006953
chr22:45689097	genomic	.,.
chr22:45689097	codon	.,.
chr22:45689097	protein	.,.
chr22:45689097	worst	silent
chr22:45689097	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45689097	nvar	1
chr22:45689097	var	chr22:45689097:C/A
chr22:45689202	allele_ref	C
chr22:45689202	allele_alt	G
chr22:45689202	seqdb_ref	C
chr22:45689202	snp_fw_seq3	ACC/AGC
chr22:45689202	snp_rv_seq3	GGT/GCT
chr22:45689202	func	intronic,intronic
chr22:45689202	transcript	NM_001167574,NM_006953
chr22:45689202	genomic	.,.
chr22:45689202	codon	.,.
chr22:45689202	protein	.,.
chr22:45689202	worst	intronic
chr22:45689202	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45689202	nvar	1
chr22:45689202	var	chr22:45689202:C/G
chr22:45691594	allele_ref	A
chr22:45691594	allele_alt	G
chr22:45691594	seqdb_ref	A
chr22:45691594	snp_fw_seq3	AAG/AGG
chr22:45691594	snp_rv_seq3	CTT/CCT
chr22:45691594	func	silent,silent
chr22:45691594	transcript	NM_001167574,NM_006953
chr22:45691594	genomic	.,.
chr22:45691594	codon	.,.
chr22:45691594	protein	.,.
chr22:45691594	worst	silent
chr22:45691594	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45691594	nvar	1
chr22:45691594	var	chr22:45691594:A/G
chr22:45723696	allele_ref	G
chr22:45723696	allele_alt	C
chr22:45723696	seqdb_ref	G
chr22:45723696	snp_fw_seq3	TGG/TCG
chr22:45723696	snp_rv_seq3	CCA/CGA
chr22:45723696	func	intronic,intronic
chr22:45723696	transcript	NM_001104595,NM_017911
chr22:45723696	genomic	.,.
chr22:45723696	codon	.,.
chr22:45723696	protein	.,.
chr22:45723696	worst	intronic
chr22:45723696	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45723696	nvar	1
chr22:45723696	var	chr22:45723696:G/C
chr22:45723779	allele_ref	C
chr22:45723779	allele_alt	T
chr22:45723779	seqdb_ref	C
chr22:45723779	snp_fw_seq3	ACG/ATG
chr22:45723779	snp_rv_seq3	CGT/CAT
chr22:45723779	func	silent,silent
chr22:45723779	transcript	NM_001104595,NM_017911
chr22:45723779	genomic	.,.
chr22:45723779	codon	.,.
chr22:45723779	protein	.,.
chr22:45723779	worst	silent
chr22:45723779	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45723779	nvar	1
chr22:45723779	var	chr22:45723779:C/T
chr22:45723807	allele_ref	G
chr22:45723807	allele_alt	C
chr22:45723807	seqdb_ref	G
chr22:45723807	snp_fw_seq3	TGT/TCT
chr22:45723807	snp_rv_seq3	ACA/AGA
chr22:45723807	func	missense,missense
chr22:45723807	transcript	NM_001104595,NM_017911
chr22:45723807	genomic	g.385G>C,g.385G>C
chr22:45723807	codon	c.385GTG>CTG,c.385GTG>CTG
chr22:45723807	protein	p.129V>L,p.129V>L
chr22:45723807	worst	missense
chr22:45723807	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45723807	nvar	1
chr22:45723807	var	chr22:45723807:G/C
chr22:45723842	allele_ref	G
chr22:45723842	allele_alt	A
chr22:45723842	seqdb_ref	G
chr22:45723842	snp_fw_seq3	GGG/GAG
chr22:45723842	snp_rv_seq3	CCC/CTC
chr22:45723842	func	silent,silent
chr22:45723842	transcript	NM_001104595,NM_017911
chr22:45723842	genomic	.,.
chr22:45723842	codon	.,.
chr22:45723842	protein	.,.
chr22:45723842	worst	silent
chr22:45723842	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45723842	nvar	1
chr22:45723842	var	chr22:45723842:G/A
chr22:45723846	allele_ref	G
chr22:45723846	allele_alt	A
chr22:45723846	seqdb_ref	G
chr22:45723846	snp_fw_seq3	CGC/CAC
chr22:45723846	snp_rv_seq3	GCG/GTG
chr22:45723846	func	missense,missense
chr22:45723846	transcript	NM_001104595,NM_017911
chr22:45723846	genomic	g.424G>A,g.424G>A
chr22:45723846	codon	c.424GCC>ACC,c.424GCC>ACC
chr22:45723846	protein	p.142A>T,p.142A>T
chr22:45723846	worst	missense
chr22:45723846	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45723846	nvar	1
chr22:45723846	var	chr22:45723846:G/A
chr22:45723854	allele_ref	C
chr22:45723854	allele_alt	G
chr22:45723854	seqdb_ref	C
chr22:45723854	snp_fw_seq3	TCC/TGC
chr22:45723854	snp_rv_seq3	GGA/GCA
chr22:45723854	func	silent,silent
chr22:45723854	transcript	NM_001104595,NM_017911
chr22:45723854	genomic	.,.
chr22:45723854	codon	.,.
chr22:45723854	protein	.,.
chr22:45723854	worst	silent
chr22:45723854	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45723854	nvar	1
chr22:45723854	var	chr22:45723854:C/G
chr22:45723947	allele_ref	A
chr22:45723947	allele_alt	G
chr22:45723947	seqdb_ref	A
chr22:45723947	snp_fw_seq3	TAT/TGT
chr22:45723947	snp_rv_seq3	ATA/ACA
chr22:45723947	func	intronic,splice,intronic,splice
chr22:45723947	annot_details	DIST=3,NMD=0,OFPTV=1,EXIN=5,ISEQ=GTATGG,ESEQ=ACCAAG,SPLICE_TYPE=donor,ALT=G,HGVS=c.IVS5+3A>G,DIST=3,NMD=0,OFPTV=1,EXIN=4,ISEQ=GTATGG,ESEQ=ACCAAG,SPLICE_TYPE=donor,ALT=G,HGVS=c.IVS4+3A>G
chr22:45723947	transcript	NM_001104595,NM_001104595,NM_017911,NM_017911
chr22:45723947	genomic	.,.,.,.
chr22:45723947	codon	.,.,.,.
chr22:45723947	protein	.,.,.,.
chr22:45723947	worst	splice
chr22:45723947	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45723947	nvar	1
chr22:45723947	var	chr22:45723947:A/G
chr22:45728370	allele_ref	G
chr22:45728370	allele_alt	A
chr22:45728370	seqdb_ref	G
chr22:45728370	snp_fw_seq3	CGT/CAT
chr22:45728370	snp_rv_seq3	ACG/ATG
chr22:45728370	func	missense,missense
chr22:45728370	transcript	NM_001104595,NM_017911
chr22:45728370	genomic	g.716G>A,g.716G>A
chr22:45728370	codon	c.716CGT>CAT,c.716CGT>CAT
chr22:45728370	protein	p.239R>H,p.239R>H
chr22:45728370	worst	missense
chr22:45728370	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45728370	nvar	1
chr22:45728370	var	chr22:45728370:G/A
chr22:45728482	allele_ref	A
chr22:45728482	allele_alt	G
chr22:45728482	seqdb_ref	A
chr22:45728482	snp_fw_seq3	CAG/CGG
chr22:45728482	snp_rv_seq3	CTG/CCG
chr22:45728482	func	silent,silent
chr22:45728482	transcript	NM_001104595,NM_017911
chr22:45728482	genomic	.,.
chr22:45728482	codon	.,.
chr22:45728482	protein	.,.
chr22:45728482	worst	silent
chr22:45728482	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45728482	nvar	1
chr22:45728482	var	chr22:45728482:A/G
chr22:45731182	allele_ref	C
chr22:45731182	allele_alt	T
chr22:45731182	seqdb_ref	C
chr22:45731182	snp_fw_seq3	ACG/ATG
chr22:45731182	snp_rv_seq3	CGT/CAT
chr22:45731182	func	intronic,intronic
chr22:45731182	transcript	NM_001104595,NM_017911
chr22:45731182	genomic	.,.
chr22:45731182	codon	.,.
chr22:45731182	protein	.,.
chr22:45731182	worst	intronic
chr22:45731182	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45731182	nvar	1
chr22:45731182	var	chr22:45731182:C/T
chr22:45736218	allele_ref	T
chr22:45736218	allele_alt	C
chr22:45736218	seqdb_ref	T
chr22:45736218	snp_fw_seq3	CTT/CCT
chr22:45736218	snp_rv_seq3	AAG/AGG
chr22:45736218	func	intronic,intronic
chr22:45736218	transcript	NM_001104595,NM_017911
chr22:45736218	genomic	.,.
chr22:45736218	codon	.,.
chr22:45736218	protein	.,.
chr22:45736218	worst	intronic
chr22:45736218	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45736218	nvar	1
chr22:45736218	var	chr22:45736218:T/C
chr22:45741364	allele_ref	G
chr22:45741364	allele_alt	A
chr22:45741364	seqdb_ref	G
chr22:45741364	snp_fw_seq3	CGT/CAT
chr22:45741364	snp_rv_seq3	ACG/ATG
chr22:45741364	func	silent
chr22:45741364	transcript	NM_148674
chr22:45741364	genomic	.
chr22:45741364	codon	.
chr22:45741364	protein	.
chr22:45741364	worst	silent
chr22:45741364	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45741364	nvar	1
chr22:45741364	var	chr22:45741364:G/A
chr22:45748339	allele_ref	A
chr22:45748339	allele_alt	G
chr22:45748339	seqdb_ref	A
chr22:45748339	snp_fw_seq3	CAG/CGG
chr22:45748339	snp_rv_seq3	CTG/CCG
chr22:45748339	func	silent
chr22:45748339	transcript	NM_148674
chr22:45748339	genomic	.
chr22:45748339	codon	.
chr22:45748339	protein	.
chr22:45748339	worst	silent
chr22:45748339	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45748339	nvar	1
chr22:45748339	var	chr22:45748339:A/G
chr22:45749983	allele_ref	G
chr22:45749983	allele_alt	T
chr22:45749983	seqdb_ref	G
chr22:45749983	snp_fw_seq3	AGT/ATT
chr22:45749983	snp_rv_seq3	ACT/AAT
chr22:45749983	func	missense
chr22:45749983	transcript	NM_148674
chr22:45749983	genomic	g.3148G>T
chr22:45749983	codon	c.3148CTG>ATG
chr22:45749983	protein	p.1050L>M
chr22:45749983	worst	missense
chr22:45749983	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45749983	nvar	1
chr22:45749983	var	chr22:45749983:G/T
chr22:45754558	allele_ref	A
chr22:45754558	allele_alt	G
chr22:45754558	seqdb_ref	A
chr22:45754558	snp_fw_seq3	AAC/AGC
chr22:45754558	snp_rv_seq3	GTT/GCT
chr22:45754558	func	intronic
chr22:45754558	transcript	NM_148674
chr22:45754558	genomic	.
chr22:45754558	codon	.
chr22:45754558	protein	.
chr22:45754558	worst	intronic
chr22:45754558	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45754558	nvar	1
chr22:45754558	var	chr22:45754558:A/G
chr22:45755666	allele_ref	C
chr22:45755666	allele_alt	T
chr22:45755666	seqdb_ref	C
chr22:45755666	snp_fw_seq3	ACA/ATA
chr22:45755666	snp_rv_seq3	TGT/TAT
chr22:45755666	func	intronic
chr22:45755666	transcript	NM_148674
chr22:45755666	genomic	.
chr22:45755666	codon	.
chr22:45755666	protein	.
chr22:45755666	worst	intronic
chr22:45755666	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45755666	nvar	1
chr22:45755666	var	chr22:45755666:C/T
chr22:45755848	allele_ref	C
chr22:45755848	allele_alt	T
chr22:45755848	seqdb_ref	C
chr22:45755848	snp_fw_seq3	ACA/ATA
chr22:45755848	snp_rv_seq3	TGT/TAT
chr22:45755848	func	intronic
chr22:45755848	transcript	NM_148674
chr22:45755848	genomic	.
chr22:45755848	codon	.
chr22:45755848	protein	.
chr22:45755848	worst	intronic
chr22:45755848	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45755848	nvar	1
chr22:45755848	var	chr22:45755848:C/T
chr22:45755888	allele_ref	G
chr22:45755888	allele_alt	A
chr22:45755888	seqdb_ref	G
chr22:45755888	snp_fw_seq3	TGC/TAC
chr22:45755888	snp_rv_seq3	GCA/GTA
chr22:45755888	func	intronic
chr22:45755888	transcript	NM_148674
chr22:45755888	genomic	.
chr22:45755888	codon	.
chr22:45755888	protein	.
chr22:45755888	worst	intronic
chr22:45755888	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45755888	nvar	1
chr22:45755888	var	chr22:45755888:G/A
chr22:45758758	allele_ref	T
chr22:45758758	allele_alt	C
chr22:45758758	seqdb_ref	T
chr22:45758758	snp_fw_seq3	TTA/TCA
chr22:45758758	snp_rv_seq3	TAA/TGA
chr22:45758758	func	intronic
chr22:45758758	transcript	NM_148674
chr22:45758758	genomic	.
chr22:45758758	codon	.
chr22:45758758	protein	.
chr22:45758758	worst	intronic
chr22:45758758	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45758758	nvar	1
chr22:45758758	var	chr22:45758758:T/C
chr22:45767369	allele_ref	A
chr22:45767369	allele_alt	G
chr22:45767369	seqdb_ref	A
chr22:45767369	snp_fw_seq3	GAA/GGA
chr22:45767369	snp_rv_seq3	TTC/TCC
chr22:45767369	func	silent
chr22:45767369	transcript	NM_148674
chr22:45767369	genomic	.
chr22:45767369	codon	.
chr22:45767369	protein	.
chr22:45767369	worst	silent
chr22:45767369	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45767369	nvar	1
chr22:45767369	var	chr22:45767369:A/G
chr22:45767391	allele_ref	C
chr22:45767391	allele_alt	T
chr22:45767391	seqdb_ref	C
chr22:45767391	snp_fw_seq3	TCG/TTG
chr22:45767391	snp_rv_seq3	CGA/CAA
chr22:45767391	func	missense
chr22:45767391	transcript	NM_148674
chr22:45767391	genomic	g.2273C>T
chr22:45767391	codon	c.2273CGA>CAA
chr22:45767391	protein	p.758R>Q
chr22:45767391	worst	missense
chr22:45767391	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45767391	nvar	1
chr22:45767391	var	chr22:45767391:C/T
chr22:45767413	allele_ref	A
chr22:45767413	allele_alt	G
chr22:45767413	seqdb_ref	A
chr22:45767413	snp_fw_seq3	AAC/AGC
chr22:45767413	snp_rv_seq3	GTT/GCT
chr22:45767413	func	silent
chr22:45767413	transcript	NM_148674
chr22:45767413	genomic	.
chr22:45767413	codon	.
chr22:45767413	protein	.
chr22:45767413	worst	silent
chr22:45767413	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45767413	nvar	1
chr22:45767413	var	chr22:45767413:A/G
chr22:45767421	allele_ref	C
chr22:45767421	allele_alt	T
chr22:45767421	seqdb_ref	C
chr22:45767421	snp_fw_seq3	ACA/ATA
chr22:45767421	snp_rv_seq3	TGT/TAT
chr22:45767421	func	missense
chr22:45767421	transcript	NM_148674
chr22:45767421	genomic	g.2243C>T
chr22:45767421	codon	c.2243TGT>TAT
chr22:45767421	protein	p.748C>Y
chr22:45767421	worst	missense
chr22:45767421	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45767421	nvar	1
chr22:45767421	var	chr22:45767421:C/T
chr22:45767455	allele_ref	A
chr22:45767455	allele_alt	G
chr22:45767455	seqdb_ref	A
chr22:45767455	snp_fw_seq3	AAC/AGC
chr22:45767455	snp_rv_seq3	GTT/GCT
chr22:45767455	func	silent
chr22:45767455	transcript	NM_148674
chr22:45767455	genomic	.
chr22:45767455	codon	.
chr22:45767455	protein	.
chr22:45767455	worst	silent
chr22:45767455	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45767455	nvar	1
chr22:45767455	var	chr22:45767455:A/G
chr22:45779335	allele_ref	A
chr22:45779335	allele_alt	G
chr22:45779335	seqdb_ref	A
chr22:45779335	snp_fw_seq3	GAC/GGC
chr22:45779335	snp_rv_seq3	GTC/GCC
chr22:45779335	func	intronic
chr22:45779335	transcript	NM_148674
chr22:45779335	genomic	.
chr22:45779335	codon	.
chr22:45779335	protein	.
chr22:45779335	worst	intronic
chr22:45779335	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45779335	nvar	1
chr22:45779335	var	chr22:45779335:A/G
chr22:45782720	allele_ref	A
chr22:45782720	allele_alt	T
chr22:45782720	seqdb_ref	A
chr22:45782720	snp_fw_seq3	AAG/ATG
chr22:45782720	snp_rv_seq3	CTT/CAT
chr22:45782720	func	intronic
chr22:45782720	transcript	NM_148674
chr22:45782720	genomic	.
chr22:45782720	codon	.
chr22:45782720	protein	.
chr22:45782720	worst	intronic
chr22:45782720	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45782720	nvar	1
chr22:45782720	var	chr22:45782720:A/T
chr22:45782903	allele_ref	T
chr22:45782903	allele_alt	C
chr22:45782903	seqdb_ref	T
chr22:45782903	snp_fw_seq3	TTA/TCA
chr22:45782903	snp_rv_seq3	TAA/TGA
chr22:45782903	func	silent
chr22:45782903	transcript	NM_148674
chr22:45782903	genomic	.
chr22:45782903	codon	.
chr22:45782903	protein	.
chr22:45782903	worst	silent
chr22:45782903	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45782903	nvar	1
chr22:45782903	var	chr22:45782903:T/C
chr22:45789642	allele_ref	A
chr22:45789642	allele_alt	C
chr22:45789642	seqdb_ref	A
chr22:45789642	snp_fw_seq3	AAT/ACT
chr22:45789642	snp_rv_seq3	ATT/AGT
chr22:45789642	func	missense
chr22:45789642	transcript	NM_148674
chr22:45789642	genomic	g.1417A>C
chr22:45789642	codon	c.1417TTT>GTT
chr22:45789642	protein	p.473F>V
chr22:45789642	worst	missense
chr22:45789642	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45789642	nvar	1
chr22:45789642	var	chr22:45789642:A/C
chr22:45789743	allele_ref	T
chr22:45789743	allele_alt	G
chr22:45789743	seqdb_ref	T
chr22:45789743	snp_fw_seq3	ATA/AGA
chr22:45789743	snp_rv_seq3	TAT/TCT
chr22:45789743	func	intronic
chr22:45789743	transcript	NM_148674
chr22:45789743	genomic	.
chr22:45789743	codon	.
chr22:45789743	protein	.
chr22:45789743	worst	intronic
chr22:45789743	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45789743	nvar	1
chr22:45789743	var	chr22:45789743:T/G
chr22:45794925	allele_ref	C
chr22:45794925	allele_alt	A
chr22:45794925	seqdb_ref	C
chr22:45794925	snp_fw_seq3	GCA/GAA
chr22:45794925	snp_rv_seq3	TGC/TTC
chr22:45794925	func	intronic
chr22:45794925	transcript	NM_148674
chr22:45794925	genomic	.
chr22:45794925	codon	.
chr22:45794925	protein	.
chr22:45794925	worst	intronic
chr22:45794925	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45794925	nvar	1
chr22:45794925	var	chr22:45794925:C/A
chr22:45802407	allele_ref	C
chr22:45802407	allele_alt	T
chr22:45802407	seqdb_ref	C
chr22:45802407	snp_fw_seq3	ACT/ATT
chr22:45802407	snp_rv_seq3	AGT/AAT
chr22:45802407	func	silent
chr22:45802407	transcript	NM_148674
chr22:45802407	genomic	.
chr22:45802407	codon	.
chr22:45802407	protein	.
chr22:45802407	worst	silent
chr22:45802407	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45802407	nvar	1
chr22:45802407	var	chr22:45802407:C/T
chr22:45914541	allele_ref	C
chr22:45914541	allele_alt	T
chr22:45914541	seqdb_ref	C
chr22:45914541	snp_fw_seq3	GCT/GTT
chr22:45914541	snp_rv_seq3	AGC/AAC
chr22:45914541	func	intronic,intronic,intronic,intronic
chr22:45914541	transcript	NM_001996,NM_006485,NM_006486,NM_006487
chr22:45914541	genomic	.,.,.,.
chr22:45914541	codon	.,.,.,.
chr22:45914541	protein	.,.,.,.
chr22:45914541	worst	intronic
chr22:45914541	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45914541	nvar	1
chr22:45914541	var	chr22:45914541:C/T
chr22:45914671	allele_ref	C
chr22:45914671	allele_alt	T
chr22:45914671	seqdb_ref	C
chr22:45914671	snp_fw_seq3	ACG/ATG
chr22:45914671	snp_rv_seq3	CGT/CAT
chr22:45914671	func	intronic,splice,intronic,splice,intronic,splice,intronic,splice
chr22:45914671	annot_details	DIST=4,NMD=0,OFPTV=0,EXIN=2,ISEQ=GTACGT,ESEQ=ATGCAG,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS2+4C>T,DIST=4,NMD=0,OFPTV=0,EXIN=2,ISEQ=GTACGT,ESEQ=ATGCAG,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS2+4C>T,DIST=4,NMD=0,OFPTV=0,EXIN=2,ISEQ=GTACGT,ESEQ=ATGCAG,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS2+4C>T,DIST=4,NMD=0,OFPTV=0,EXIN=2,ISEQ=GTACGT,ESEQ=ATGCAG,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS2+4C>T
chr22:45914671	transcript	NM_001996,NM_001996,NM_006485,NM_006485,NM_006486,NM_006486,NM_006487,NM_006487
chr22:45914671	genomic	.,.,.,.,.,.,.,.
chr22:45914671	codon	.,.,.,.,.,.,.,.
chr22:45914671	protein	.,.,.,.,.,.,.,.
chr22:45914671	worst	splice
chr22:45914671	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=4,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45914671	nvar	1
chr22:45914671	var	chr22:45914671:C/T
chr22:45914675	allele_ref	T
chr22:45914675	allele_alt	C
chr22:45914675	seqdb_ref	T
chr22:45914675	snp_fw_seq3	TTG/TCG
chr22:45914675	snp_rv_seq3	CAA/CGA
chr22:45914675	func	intronic,intronic,intronic,intronic
chr22:45914675	transcript	NM_001996,NM_006485,NM_006486,NM_006487
chr22:45914675	genomic	.,.,.,.
chr22:45914675	codon	.,.,.,.
chr22:45914675	protein	.,.,.,.
chr22:45914675	worst	intronic
chr22:45914675	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45914675	nvar	1
chr22:45914675	var	chr22:45914675:T/C
chr22:45914692	allele_ref	T
chr22:45914692	allele_alt	G
chr22:45914692	seqdb_ref	T
chr22:45914692	snp_fw_seq3	TTC/TGC
chr22:45914692	snp_rv_seq3	GAA/GCA
chr22:45914692	func	intronic,intronic,intronic,intronic
chr22:45914692	transcript	NM_001996,NM_006485,NM_006486,NM_006487
chr22:45914692	genomic	.,.,.,.
chr22:45914692	codon	.,.,.,.
chr22:45914692	protein	.,.,.,.
chr22:45914692	worst	intronic
chr22:45914692	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45914692	nvar	1
chr22:45914692	var	chr22:45914692:T/G
chr22:45923827	allele_ref	A
chr22:45923827	allele_alt	G
chr22:45923827	seqdb_ref	A
chr22:45923827	snp_fw_seq3	CAG/CGG
chr22:45923827	snp_rv_seq3	CTG/CCG
chr22:45923827	func	missense,missense,missense,missense
chr22:45923827	transcript	NM_001996,NM_006485,NM_006486,NM_006487
chr22:45923827	genomic	g.422A>G,g.422A>G,g.422A>G,g.422A>G
chr22:45923827	codon	c.422CAG>CGG,c.422CAG>CGG,c.422CAG>CGG,c.422CAG>CGG
chr22:45923827	protein	p.141Q>R,p.141Q>R,p.141Q>R,p.141Q>R
chr22:45923827	worst	missense
chr22:45923827	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45923827	nvar	1
chr22:45923827	var	chr22:45923827:A/G
chr22:45923894	allele_ref	C
chr22:45923894	allele_alt	A
chr22:45923894	seqdb_ref	C
chr22:45923894	snp_fw_seq3	ACT/AAT
chr22:45923894	snp_rv_seq3	AGT/ATT
chr22:45923894	func	intronic,splice,intronic,splice,intronic,splice,intronic,splice
chr22:45923894	annot_details	DIST=5,NMD=0,OFPTV=1,EXIN=4,ISEQ=GTAACT,ESEQ=AAACGG,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS4+5C>A,DIST=5,NMD=0,OFPTV=1,EXIN=4,ISEQ=GTAACT,ESEQ=AAACGG,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS4+5C>A,DIST=5,NMD=0,OFPTV=1,EXIN=4,ISEQ=GTAACT,ESEQ=AAACGG,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS4+5C>A,DIST=5,NMD=0,OFPTV=1,EXIN=4,ISEQ=GTAACT,ESEQ=AAACGG,SPLICE_TYPE=donor,ALT=A,HGVS=c.IVS4+5C>A
chr22:45923894	transcript	NM_001996,NM_001996,NM_006485,NM_006485,NM_006486,NM_006486,NM_006487,NM_006487
chr22:45923894	genomic	.,.,.,.,.,.,.,.
chr22:45923894	codon	.,.,.,.,.,.,.,.
chr22:45923894	protein	.,.,.,.,.,.,.,.
chr22:45923894	worst	splice
chr22:45923894	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=4,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45923894	nvar	1
chr22:45923894	var	chr22:45923894:C/A
chr22:45923937	allele_ref	C
chr22:45923937	allele_alt	T
chr22:45923937	seqdb_ref	c
chr22:45923937	snp_fw_seq3	ccg/cTg
chr22:45923937	snp_rv_seq3	cgg/cAg
chr22:45923937	func	intronic,intronic,intronic,intronic
chr22:45923937	transcript	NM_001996,NM_006485,NM_006486,NM_006487
chr22:45923937	genomic	.,.,.,.
chr22:45923937	codon	.,.,.,.
chr22:45923937	protein	.,.,.,.
chr22:45923937	worst	intronic
chr22:45923937	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45923937	nvar	1
chr22:45923937	var	chr22:45923937:C/T
chr22:45927112	allele_ref	A
chr22:45927112	allele_alt	G
chr22:45927112	seqdb_ref	A
chr22:45927112	snp_fw_seq3	GAT/GGT
chr22:45927112	snp_rv_seq3	ATC/ACC
chr22:45927112	func	intronic,intronic,intronic,intronic
chr22:45927112	transcript	NM_001996,NM_006485,NM_006486,NM_006487
chr22:45927112	genomic	.,.,.,.
chr22:45927112	codon	.,.,.,.
chr22:45927112	protein	.,.,.,.
chr22:45927112	worst	intronic
chr22:45927112	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45927112	nvar	1
chr22:45927112	var	chr22:45927112:A/G
chr22:45927220	allele_ref	C
chr22:45927220	allele_alt	G
chr22:45927220	seqdb_ref	C
chr22:45927220	snp_fw_seq3	TCT/TGT
chr22:45927220	snp_rv_seq3	AGA/ACA
chr22:45927220	func	intronic,intronic,intronic,intronic
chr22:45927220	transcript	NM_001996,NM_006485,NM_006486,NM_006487
chr22:45927220	genomic	.,.,.,.
chr22:45927220	codon	.,.,.,.
chr22:45927220	protein	.,.,.,.
chr22:45927220	worst	intronic
chr22:45927220	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45927220	nvar	1
chr22:45927220	var	chr22:45927220:C/G
chr22:45929080	allele_ref	C
chr22:45929080	allele_alt	T
chr22:45929080	seqdb_ref	C
chr22:45929080	snp_fw_seq3	CCG/CTG
chr22:45929080	snp_rv_seq3	CGG/CAG
chr22:45929080	func	intronic,intronic,intronic,intronic
chr22:45929080	transcript	NM_001996,NM_006485,NM_006486,NM_006487
chr22:45929080	genomic	.,.,.,.
chr22:45929080	codon	.,.,.,.
chr22:45929080	protein	.,.,.,.
chr22:45929080	worst	intronic
chr22:45929080	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45929080	nvar	1
chr22:45929080	var	chr22:45929080:C/T
chr22:45931223	allele_ref	A
chr22:45931223	allele_alt	C
chr22:45931223	seqdb_ref	A
chr22:45931223	snp_fw_seq3	GAG/GCG
chr22:45931223	snp_rv_seq3	CTC/CGC
chr22:45931223	func	intronic,intronic,intronic,intronic
chr22:45931223	transcript	NM_001996,NM_006485,NM_006486,NM_006487
chr22:45931223	genomic	.,.,.,.
chr22:45931223	codon	.,.,.,.
chr22:45931223	protein	.,.,.,.
chr22:45931223	worst	intronic
chr22:45931223	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45931223	nvar	1
chr22:45931223	var	chr22:45931223:A/C
chr22:45931244	allele_ref	G
chr22:45931244	allele_alt	A
chr22:45931244	seqdb_ref	G
chr22:45931244	snp_fw_seq3	CGG/CAG
chr22:45931244	snp_rv_seq3	CCG/CTG
chr22:45931244	func	intronic,intronic,intronic,intronic
chr22:45931244	transcript	NM_001996,NM_006485,NM_006486,NM_006487
chr22:45931244	genomic	.,.,.,.
chr22:45931244	codon	.,.,.,.
chr22:45931244	protein	.,.,.,.
chr22:45931244	worst	intronic
chr22:45931244	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45931244	nvar	1
chr22:45931244	var	chr22:45931244:G/A
chr22:45931262	allele_ref	C
chr22:45931262	allele_alt	T
chr22:45931262	seqdb_ref	C
chr22:45931262	snp_fw_seq3	GCC/GTC
chr22:45931262	snp_rv_seq3	GGC/GAC
chr22:45931262	func	intronic,intronic,intronic,intronic
chr22:45931262	transcript	NM_001996,NM_006485,NM_006486,NM_006487
chr22:45931262	genomic	.,.,.,.
chr22:45931262	codon	.,.,.,.
chr22:45931262	protein	.,.,.,.
chr22:45931262	worst	intronic
chr22:45931262	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45931262	nvar	1
chr22:45931262	var	chr22:45931262:C/T
chr22:45937061	allele_ref	G
chr22:45937061	allele_alt	A
chr22:45937061	seqdb_ref	G
chr22:45937061	snp_fw_seq3	GGA/GAA
chr22:45937061	snp_rv_seq3	TCC/TTC
chr22:45937061	func	intronic,intronic,intronic,intronic
chr22:45937061	transcript	NM_001996,NM_006485,NM_006486,NM_006487
chr22:45937061	genomic	.,.,.,.
chr22:45937061	codon	.,.,.,.
chr22:45937061	protein	.,.,.,.
chr22:45937061	worst	intronic
chr22:45937061	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45937061	nvar	1
chr22:45937061	var	chr22:45937061:G/A
chr22:45937102	allele_ref	G
chr22:45937102	allele_alt	A
chr22:45937102	seqdb_ref	G
chr22:45937102	snp_fw_seq3	CGC/CAC
chr22:45937102	snp_rv_seq3	GCG/GTG
chr22:45937102	func	intronic,intronic,intronic,intronic
chr22:45937102	transcript	NM_001996,NM_006485,NM_006486,NM_006487
chr22:45937102	genomic	.,.,.,.
chr22:45937102	codon	.,.,.,.
chr22:45937102	protein	.,.,.,.
chr22:45937102	worst	intronic
chr22:45937102	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45937102	nvar	1
chr22:45937102	var	chr22:45937102:G/A
chr22:45937143	allele_ref	C
chr22:45937143	allele_alt	T
chr22:45937143	seqdb_ref	C
chr22:45937143	snp_fw_seq3	GCC/GTC
chr22:45937143	snp_rv_seq3	GGC/GAC
chr22:45937143	func	silent,silent,silent,silent
chr22:45937143	transcript	NM_001996,NM_006485,NM_006486,NM_006487
chr22:45937143	genomic	.,.,.,.
chr22:45937143	codon	.,.,.,.
chr22:45937143	protein	.,.,.,.
chr22:45937143	worst	silent
chr22:45937143	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45937143	nvar	1
chr22:45937143	var	chr22:45937143:C/T
chr22:45937149	allele_ref	C
chr22:45937149	allele_alt	T
chr22:45937149	seqdb_ref	C
chr22:45937149	snp_fw_seq3	TCG/TTG
chr22:45937149	snp_rv_seq3	CGA/CAA
chr22:45937149	func	silent,silent,silent,silent
chr22:45937149	transcript	NM_001996,NM_006485,NM_006486,NM_006487
chr22:45937149	genomic	.,.,.,.
chr22:45937149	codon	.,.,.,.
chr22:45937149	protein	.,.,.,.
chr22:45937149	worst	silent
chr22:45937149	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45937149	nvar	1
chr22:45937149	var	chr22:45937149:C/T
chr22:45938204	allele_ref	C
chr22:45938204	allele_alt	T
chr22:45938204	seqdb_ref	C
chr22:45938204	snp_fw_seq3	ACG/ATG
chr22:45938204	snp_rv_seq3	CGT/CAT
chr22:45938204	func	intronic,intronic,intronic,intronic
chr22:45938204	transcript	NM_001996,NM_006485,NM_006486,NM_006487
chr22:45938204	genomic	.,.,.,.
chr22:45938204	codon	.,.,.,.
chr22:45938204	protein	.,.,.,.
chr22:45938204	worst	intronic
chr22:45938204	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45938204	nvar	1
chr22:45938204	var	chr22:45938204:C/T
chr22:45942951	allele_ref	G
chr22:45942951	allele_alt	A
chr22:45942951	seqdb_ref	G
chr22:45942951	snp_fw_seq3	CGT/CAT
chr22:45942951	snp_rv_seq3	ACG/ATG
chr22:45942951	func	intronic,intronic,intronic,intronic
chr22:45942951	transcript	NM_001996,NM_006485,NM_006486,NM_006487
chr22:45942951	genomic	.,.,.,.
chr22:45942951	codon	.,.,.,.
chr22:45942951	protein	.,.,.,.
chr22:45942951	worst	intronic
chr22:45942951	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45942951	nvar	1
chr22:45942951	var	chr22:45942951:G/A
chr22:45943011	allele_ref	C
chr22:45943011	allele_alt	T
chr22:45943011	seqdb_ref	C
chr22:45943011	snp_fw_seq3	ACG/ATG
chr22:45943011	snp_rv_seq3	CGT/CAT
chr22:45943011	func	silent,silent,silent,silent
chr22:45943011	transcript	NM_001996,NM_006485,NM_006486,NM_006487
chr22:45943011	genomic	.,.,.,.
chr22:45943011	codon	.,.,.,.
chr22:45943011	protein	.,.,.,.
chr22:45943011	worst	silent
chr22:45943011	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45943011	nvar	1
chr22:45943011	var	chr22:45943011:C/T
chr22:45943115	allele_ref	A
chr22:45943115	allele_alt	G
chr22:45943115	seqdb_ref	A
chr22:45943115	snp_fw_seq3	AAG/AGG
chr22:45943115	snp_rv_seq3	CTT/CCT
chr22:45943115	func	intronic,intronic,intronic,intronic
chr22:45943115	transcript	NM_001996,NM_006485,NM_006486,NM_006487
chr22:45943115	genomic	.,.,.,.
chr22:45943115	codon	.,.,.,.
chr22:45943115	protein	.,.,.,.
chr22:45943115	worst	intronic
chr22:45943115	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45943115	nvar	1
chr22:45943115	var	chr22:45943115:A/G
chr22:45944593	allele_ref	C
chr22:45944593	allele_alt	T
chr22:45944593	seqdb_ref	C
chr22:45944593	snp_fw_seq3	ACA/ATA
chr22:45944593	snp_rv_seq3	TGT/TAT
chr22:45944593	func	silent,silent,silent,silent
chr22:45944593	transcript	NM_001996,NM_006485,NM_006486,NM_006487
chr22:45944593	genomic	.,.,.,.
chr22:45944593	codon	.,.,.,.
chr22:45944593	protein	.,.,.,.
chr22:45944593	worst	silent
chr22:45944593	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45944593	nvar	1
chr22:45944593	var	chr22:45944593:C/T
chr22:45946460	allele_ref	C
chr22:45946460	allele_alt	T
chr22:45946460	seqdb_ref	C
chr22:45946460	snp_fw_seq3	TCG/TTG
chr22:45946460	snp_rv_seq3	CGA/CAA
chr22:45946460	func	silent,silent,silent,silent
chr22:45946460	transcript	NM_001996,NM_006485,NM_006486,NM_006487
chr22:45946460	genomic	.,.,.,.
chr22:45946460	codon	.,.,.,.
chr22:45946460	protein	.,.,.,.
chr22:45946460	worst	silent
chr22:45946460	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45946460	nvar	1
chr22:45946460	var	chr22:45946460:C/T
chr22:45946488	allele_ref	G
chr22:45946488	allele_alt	A
chr22:45946488	seqdb_ref	G
chr22:45946488	snp_fw_seq3	CGC/CAC
chr22:45946488	snp_rv_seq3	GCG/GTG
chr22:45946488	func	missense,missense,missense,missense
chr22:45946488	transcript	NM_001996,NM_006485,NM_006486,NM_006487
chr22:45946488	genomic	g.1690G>A,g.1690G>A,g.1690G>A,g.1690G>A
chr22:45946488	codon	c.1690GCA>ACA,c.1690GCA>ACA,c.1690GCA>ACA,c.1690GCA>ACA
chr22:45946488	protein	p.564A>T,p.564A>T,p.564A>T,p.564A>T
chr22:45946488	worst	missense
chr22:45946488	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45946488	nvar	1
chr22:45946488	var	chr22:45946488:G/A
chr22:45958933	allele_ref	C
chr22:45958933	allele_alt	T
chr22:45958933	seqdb_ref	C
chr22:45958933	snp_fw_seq3	CCG/CTG
chr22:45958933	snp_rv_seq3	CGG/CAG
chr22:45958933	func	silent,intronic,intronic
chr22:45958933	transcript	NM_001996,NM_006485,NM_006486
chr22:45958933	genomic	.,.,.
chr22:45958933	codon	.,.,.
chr22:45958933	protein	.,.,.
chr22:45958933	worst	silent
chr22:45958933	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45958933	nvar	1
chr22:45958933	var	chr22:45958933:C/T
chr22:45959157	allele_ref	C
chr22:45959157	allele_alt	T
chr22:45959157	seqdb_ref	C
chr22:45959157	snp_fw_seq3	TCG/TTG
chr22:45959157	snp_rv_seq3	CGA/CAA
chr22:45959157	func	3-UTR,intronic,intronic
chr22:45959157	transcript	NM_001996,NM_006485,NM_006486
chr22:45959157	genomic	.,.,.
chr22:45959157	codon	.,.,.
chr22:45959157	protein	.,.,.
chr22:45959157	worst	UTR3
chr22:45959157	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:45959157	nvar	1
chr22:45959157	var	chr22:45959157:C/T
chr22:45960864	allele_ref	G
chr22:45960864	allele_alt	T
chr22:45960864	seqdb_ref	G
chr22:45960864	snp_fw_seq3	TGA/TTA
chr22:45960864	snp_rv_seq3	TCA/TAA
chr22:45960864	func	missense,intronic
chr22:45960864	transcript	NM_006485,NM_006486
chr22:45960864	genomic	g.1798G>T,.
chr22:45960864	codon	c.1798GAT>TAT,.
chr22:45960864	protein	p.600D>Y,.
chr22:45960864	worst	missense
chr22:45960864	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45960864	nvar	1
chr22:45960864	var	chr22:45960864:G/T
chr22:45970360	allele_ref	C
chr22:45970360	allele_alt	T
chr22:45970360	seqdb_ref	C
chr22:45970360	snp_fw_seq3	CCG/CTG
chr22:45970360	snp_rv_seq3	CGG/CAG
chr22:45970360	func	intronic
chr22:45970360	transcript	NM_006486
chr22:45970360	genomic	.
chr22:45970360	codon	.
chr22:45970360	protein	.
chr22:45970360	worst	intronic
chr22:45970360	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45970360	nvar	1
chr22:45970360	var	chr22:45970360:C/T
chr22:45970414	allele_ref	C
chr22:45970414	allele_alt	T
chr22:45970414	seqdb_ref	C
chr22:45970414	snp_fw_seq3	ACG/ATG
chr22:45970414	snp_rv_seq3	CGT/CAT
chr22:45970414	func	missense
chr22:45970414	transcript	NM_006486
chr22:45970414	genomic	g.1721C>T
chr22:45970414	codon	c.1721ACG>ATG
chr22:45970414	protein	p.574T>M
chr22:45970414	worst	missense
chr22:45970414	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45970414	nvar	1
chr22:45970414	var	chr22:45970414:C/T
chr22:45972888	allele_ref	G
chr22:45972888	allele_alt	A
chr22:45972888	seqdb_ref	G
chr22:45972888	snp_fw_seq3	CGC/CAC
chr22:45972888	snp_rv_seq3	GCG/GTG
chr22:45972888	func	silent
chr22:45972888	transcript	NM_006486
chr22:45972888	genomic	.
chr22:45972888	codon	.
chr22:45972888	protein	.
chr22:45972888	worst	silent
chr22:45972888	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45972888	nvar	1
chr22:45972888	var	chr22:45972888:G/A
chr22:45996293	allele_ref	C
chr22:45996293	allele_alt	T
chr22:45996293	seqdb_ref	C
chr22:45996293	snp_fw_seq3	ACG/ATG
chr22:45996293	snp_rv_seq3	CGT/CAT
chr22:45996293	func	silent
chr22:45996293	transcript	NM_006486
chr22:45996293	genomic	.
chr22:45996293	codon	.
chr22:45996293	protein	.
chr22:45996293	worst	silent
chr22:45996293	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:45996293	nvar	1
chr22:45996293	var	chr22:45996293:C/T
chr22:45996361	allele_ref	C
chr22:45996361	allele_alt	G
chr22:45996361	seqdb_ref	C
chr22:45996361	snp_fw_seq3	CCA/CGA
chr22:45996361	snp_rv_seq3	TGG/TCG
chr22:45996361	func	3-UTR
chr22:45996361	transcript	NM_006486
chr22:45996361	genomic	.
chr22:45996361	codon	.
chr22:45996361	protein	.
chr22:45996361	worst	UTR3
chr22:45996361	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:45996361	nvar	1
chr22:45996361	var	chr22:45996361:C/G
chr22:46114244	allele_ref	C
chr22:46114244	allele_alt	T
chr22:46114244	seqdb_ref	C
chr22:46114244	snp_fw_seq3	TCT/TTT
chr22:46114244	snp_rv_seq3	AGA/AAA
chr22:46114244	func	intronic,intronic
chr22:46114244	transcript	NM_001167621,NM_013236
chr22:46114244	genomic	.,.
chr22:46114244	codon	.,.
chr22:46114244	protein	.,.
chr22:46114244	worst	intronic
chr22:46114244	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46114244	nvar	1
chr22:46114244	var	chr22:46114244:C/T
chr22:46114398	allele_ref	G
chr22:46114398	allele_alt	T
chr22:46114398	seqdb_ref	G
chr22:46114398	snp_fw_seq3	TGG/TTG
chr22:46114398	snp_rv_seq3	CCA/CAA
chr22:46114398	func	intronic,intronic
chr22:46114398	transcript	NM_001167621,NM_013236
chr22:46114398	genomic	.,.
chr22:46114398	codon	.,.
chr22:46114398	protein	.,.
chr22:46114398	worst	intronic
chr22:46114398	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46114398	nvar	1
chr22:46114398	var	chr22:46114398:G/T
chr22:46202925	allele_ref	A
chr22:46202925	allele_alt	G
chr22:46202925	seqdb_ref	A
chr22:46202925	snp_fw_seq3	CAT/CGT
chr22:46202925	snp_rv_seq3	ATG/ACG
chr22:46202925	func	intronic,intronic
chr22:46202925	transcript	NM_001167621,NM_013236
chr22:46202925	genomic	.,.
chr22:46202925	codon	.,.
chr22:46202925	protein	.,.
chr22:46202925	worst	intronic
chr22:46202925	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46202925	nvar	1
chr22:46202925	var	chr22:46202925:A/G
chr22:46318859	allele_ref	G
chr22:46318859	allele_alt	A
chr22:46318859	seqdb_ref	G
chr22:46318859	snp_fw_seq3	CGC/CAC
chr22:46318859	snp_rv_seq3	GCG/GTG
chr22:46318859	func	silent
chr22:46318859	transcript	NM_058238
chr22:46318859	genomic	.
chr22:46318859	codon	.
chr22:46318859	protein	.
chr22:46318859	worst	silent
chr22:46318859	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46318859	nvar	1
chr22:46318859	var	chr22:46318859:G/A
chr22:46318880	allele_ref	G
chr22:46318880	allele_alt	A
chr22:46318880	seqdb_ref	G
chr22:46318880	snp_fw_seq3	CGT/CAT
chr22:46318880	snp_rv_seq3	ACG/ATG
chr22:46318880	func	silent
chr22:46318880	transcript	NM_058238
chr22:46318880	genomic	.
chr22:46318880	codon	.
chr22:46318880	protein	.
chr22:46318880	worst	silent
chr22:46318880	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46318880	nvar	1
chr22:46318880	var	chr22:46318880:G/A
chr22:46318892	allele_ref	C
chr22:46318892	allele_alt	T
chr22:46318892	seqdb_ref	C
chr22:46318892	snp_fw_seq3	GCG/GTG
chr22:46318892	snp_rv_seq3	CGC/CAC
chr22:46318892	func	silent
chr22:46318892	transcript	NM_058238
chr22:46318892	genomic	.
chr22:46318892	codon	.
chr22:46318892	protein	.
chr22:46318892	worst	silent
chr22:46318892	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46318892	nvar	1
chr22:46318892	var	chr22:46318892:C/T
chr22:46319036	allele_ref	G
chr22:46319036	allele_alt	T
chr22:46319036	seqdb_ref	G
chr22:46319036	snp_fw_seq3	AGG/ATG
chr22:46319036	snp_rv_seq3	CCT/CAT
chr22:46319036	func	silent
chr22:46319036	transcript	NM_058238
chr22:46319036	genomic	.
chr22:46319036	codon	.
chr22:46319036	protein	.
chr22:46319036	worst	silent
chr22:46319036	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46319036	nvar	1
chr22:46319036	var	chr22:46319036:G/T
chr22:46319177	allele_ref	G
chr22:46319177	allele_alt	A
chr22:46319177	seqdb_ref	G
chr22:46319177	snp_fw_seq3	CGT/CAT
chr22:46319177	snp_rv_seq3	ACG/ATG
chr22:46319177	func	silent
chr22:46319177	transcript	NM_058238
chr22:46319177	genomic	.
chr22:46319177	codon	.
chr22:46319177	protein	.
chr22:46319177	worst	silent
chr22:46319177	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46319177	nvar	1
chr22:46319177	var	chr22:46319177:G/A
chr22:46327071	allele_ref	G
chr22:46327071	allele_alt	C
chr22:46327071	seqdb_ref	G
chr22:46327071	snp_fw_seq3	TGC/TCC
chr22:46327071	snp_rv_seq3	GCA/GGA
chr22:46327071	func	silent
chr22:46327071	transcript	NM_058238
chr22:46327071	genomic	.
chr22:46327071	codon	.
chr22:46327071	protein	.
chr22:46327071	worst	silent
chr22:46327071	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46327071	nvar	1
chr22:46327071	var	chr22:46327071:G/C
chr22:46345825	allele_ref	G
chr22:46345825	allele_alt	A
chr22:46345825	seqdb_ref	G
chr22:46345825	snp_fw_seq3	CGG/CAG
chr22:46345825	snp_rv_seq3	CCG/CTG
chr22:46345825	func	silent
chr22:46345825	transcript	NM_058238
chr22:46345825	genomic	.
chr22:46345825	codon	.
chr22:46345825	protein	.
chr22:46345825	worst	silent
chr22:46345825	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46345825	nvar	1
chr22:46345825	var	chr22:46345825:G/A
chr22:46345930	allele_ref	G
chr22:46345930	allele_alt	A
chr22:46345930	seqdb_ref	G
chr22:46345930	snp_fw_seq3	CGG/CAG
chr22:46345930	snp_rv_seq3	CCG/CTG
chr22:46345930	func	silent
chr22:46345930	transcript	NM_058238
chr22:46345930	genomic	.
chr22:46345930	codon	.
chr22:46345930	protein	.
chr22:46345930	worst	silent
chr22:46345930	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46345930	nvar	1
chr22:46345930	var	chr22:46345930:G/A
chr22:46449891	allele_ref	G
chr22:46449891	allele_alt	C
chr22:46449891	seqdb_ref	G
chr22:46449891	snp_fw_seq3	GGG/GCG
chr22:46449891	snp_rv_seq3	CCC/CGC
chr22:46449891	func	missense,intronic
chr22:46449891	transcript	NM_018280,NR_027034
chr22:46449891	genomic	g.83G>C,.
chr22:46449891	codon	c.83CCC>CGC,.
chr22:46449891	protein	p.28P>R,.
chr22:46449891	worst	missense
chr22:46449891	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46449891	nvar	1
chr22:46449891	var	chr22:46449891:G/C
chr22:46615905	allele_ref	C
chr22:46615905	allele_alt	T
chr22:46615905	seqdb_ref	C
chr22:46615905	snp_fw_seq3	ACA/ATA
chr22:46615905	snp_rv_seq3	TGT/TAT
chr22:46615905	func	silent,silent
chr22:46615905	transcript	NM_001001928,NM_005036
chr22:46615905	genomic	.,.
chr22:46615905	codon	.,.
chr22:46615905	protein	.,.
chr22:46615905	worst	silent
chr22:46615905	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46615905	nvar	1
chr22:46615905	var	chr22:46615905:C/T
chr22:46640967	allele_ref	G
chr22:46640967	allele_alt	A
chr22:46640967	seqdb_ref	G
chr22:46640967	snp_fw_seq3	CGA/CAA
chr22:46640967	snp_rv_seq3	TCG/TTG
chr22:46640967	func	3-UTR
chr22:46640967	transcript	NM_207327
chr22:46640967	genomic	.
chr22:46640967	codon	.
chr22:46640967	protein	.
chr22:46640967	worst	UTR3
chr22:46640967	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:46640967	nvar	1
chr22:46640967	var	chr22:46640967:G/A
chr22:46643023	allele_ref	A
chr22:46643023	allele_alt	C
chr22:46643023	seqdb_ref	A
chr22:46643023	snp_fw_seq3	CAG/CCG
chr22:46643023	snp_rv_seq3	CTG/CGG
chr22:46643023	func	missense
chr22:46643023	transcript	NM_207327
chr22:46643023	genomic	g.209A>C
chr22:46643023	codon	c.209CTG>CGG
chr22:46643023	protein	p.70L>R
chr22:46643023	worst	missense
chr22:46643023	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46643023	nvar	1
chr22:46643023	var	chr22:46643023:A/C
chr22:46644168	allele_ref	A
chr22:46644168	allele_alt	G
chr22:46644168	seqdb_ref	A
chr22:46644168	snp_fw_seq3	TAC/TGC
chr22:46644168	snp_rv_seq3	GTA/GCA
chr22:46644168	func	missense
chr22:46644168	transcript	NM_207327
chr22:46644168	genomic	g.14A>G
chr22:46644168	codon	c.14GTA>GCA
chr22:46644168	protein	p.5V>A
chr22:46644168	worst	missense
chr22:46644168	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46644168	nvar	1
chr22:46644168	var	chr22:46644168:A/G
chr22:46644177	allele_ref	G
chr22:46644177	allele_alt	A
chr22:46644177	seqdb_ref	G
chr22:46644177	snp_fw_seq3	CGC/CAC
chr22:46644177	snp_rv_seq3	GCG/GTG
chr22:46644177	func	splice,missense
chr22:46644177	annot_details	DIST=-4,NMD=0,OFPTV=1,EXIN=2,ISEQ=GACGTT,ESEQ=GCGGTA,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS2+-4C>T
chr22:46644177	transcript	NM_207327,NM_207327
chr22:46644177	genomic	.,g.5G>A
chr22:46644177	codon	.,c.5GCG>GTG
chr22:46644177	protein	.,p.2A>V
chr22:46644177	worst	missense
chr22:46644177	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46644177	nvar	1
chr22:46644177	var	chr22:46644177:G/A
chr22:46644188	allele_ref	G
chr22:46644188	allele_alt	A
chr22:46644188	seqdb_ref	G
chr22:46644188	snp_fw_seq3	AGA/AAA
chr22:46644188	snp_rv_seq3	TCT/TTT
chr22:46644188	func	intronic
chr22:46644188	transcript	NM_207327
chr22:46644188	genomic	.
chr22:46644188	codon	.
chr22:46644188	protein	.
chr22:46644188	worst	intronic
chr22:46644188	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46644188	nvar	1
chr22:46644188	var	chr22:46644188:G/A
chr22:46652737	allele_ref	G
chr22:46652737	allele_alt	A
chr22:46652737	seqdb_ref	G
chr22:46652737	snp_fw_seq3	CGC/CAC
chr22:46652737	snp_rv_seq3	GCG/GTG
chr22:46652737	func	silent
chr22:46652737	transcript	NM_006071
chr22:46652737	genomic	.
chr22:46652737	codon	.
chr22:46652737	protein	.
chr22:46652737	worst	silent
chr22:46652737	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46652737	nvar	1
chr22:46652737	var	chr22:46652737:G/A
chr22:46652929	allele_ref	G
chr22:46652929	allele_alt	A
chr22:46652929	seqdb_ref	G
chr22:46652929	snp_fw_seq3	CGG/CAG
chr22:46652929	snp_rv_seq3	CCG/CTG
chr22:46652929	func	silent
chr22:46652929	transcript	NM_006071
chr22:46652929	genomic	.
chr22:46652929	codon	.
chr22:46652929	protein	.
chr22:46652929	worst	silent
chr22:46652929	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46652929	nvar	1
chr22:46652929	var	chr22:46652929:G/A
chr22:46652959	allele_ref	A
chr22:46652959	allele_alt	G
chr22:46652959	seqdb_ref	A
chr22:46652959	snp_fw_seq3	CAG/CGG
chr22:46652959	snp_rv_seq3	CTG/CCG
chr22:46652959	func	silent
chr22:46652959	transcript	NM_006071
chr22:46652959	genomic	.
chr22:46652959	codon	.
chr22:46652959	protein	.
chr22:46652959	worst	silent
chr22:46652959	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46652959	nvar	1
chr22:46652959	var	chr22:46652959:A/G
chr22:46654035	allele_ref	C
chr22:46654035	allele_alt	T
chr22:46654035	seqdb_ref	C
chr22:46654035	snp_fw_seq3	ACG/ATG
chr22:46654035	snp_rv_seq3	CGT/CAT
chr22:46654035	func	missense
chr22:46654035	transcript	NM_006071
chr22:46654035	genomic	g.5185C>T
chr22:46654035	codon	c.5185GTC>ATC
chr22:46654035	protein	p.1729V>I
chr22:46654035	worst	missense
chr22:46654035	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46654035	nvar	1
chr22:46654035	var	chr22:46654035:C/T
chr22:46654323	allele_ref	G
chr22:46654323	allele_alt	A
chr22:46654323	seqdb_ref	G
chr22:46654323	snp_fw_seq3	AGG/AAG
chr22:46654323	snp_rv_seq3	CCT/CTT
chr22:46654323	func	silent
chr22:46654323	transcript	NM_006071
chr22:46654323	genomic	.
chr22:46654323	codon	.
chr22:46654323	protein	.
chr22:46654323	worst	silent
chr22:46654323	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46654323	nvar	1
chr22:46654323	var	chr22:46654323:G/A
chr22:46655303	allele_ref	G
chr22:46655303	allele_alt	A
chr22:46655303	seqdb_ref	G
chr22:46655303	snp_fw_seq3	CGA/CAA
chr22:46655303	snp_rv_seq3	TCG/TTG
chr22:46655303	func	missense
chr22:46655303	transcript	NM_006071
chr22:46655303	genomic	g.3917G>A
chr22:46655303	codon	c.3917TCG>TTG
chr22:46655303	protein	p.1306S>L
chr22:46655303	worst	missense
chr22:46655303	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46655303	nvar	1
chr22:46655303	var	chr22:46655303:G/A
chr22:46655347	allele_ref	C
chr22:46655347	allele_alt	T
chr22:46655347	seqdb_ref	C
chr22:46655347	snp_fw_seq3	CCC/CTC
chr22:46655347	snp_rv_seq3	GGG/GAG
chr22:46655347	func	silent
chr22:46655347	transcript	NM_006071
chr22:46655347	genomic	.
chr22:46655347	codon	.
chr22:46655347	protein	.
chr22:46655347	worst	silent
chr22:46655347	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46655347	nvar	1
chr22:46655347	var	chr22:46655347:C/T
chr22:46655365	allele_ref	C
chr22:46655365	allele_alt	T
chr22:46655365	seqdb_ref	C
chr22:46655365	snp_fw_seq3	TCG/TTG
chr22:46655365	snp_rv_seq3	CGA/CAA
chr22:46655365	func	silent
chr22:46655365	transcript	NM_006071
chr22:46655365	genomic	.
chr22:46655365	codon	.
chr22:46655365	protein	.
chr22:46655365	worst	silent
chr22:46655365	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46655365	nvar	1
chr22:46655365	var	chr22:46655365:C/T
chr22:46655779	allele_ref	G
chr22:46655779	allele_alt	C
chr22:46655779	seqdb_ref	G
chr22:46655779	snp_fw_seq3	CGA/CCA
chr22:46655779	snp_rv_seq3	TCG/TGG
chr22:46655779	func	missense
chr22:46655779	transcript	NM_006071
chr22:46655779	genomic	g.3441G>C
chr22:46655779	codon	c.3441ATC>ATG
chr22:46655779	protein	p.1147I>M
chr22:46655779	worst	missense
chr22:46655779	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46655779	nvar	1
chr22:46655779	var	chr22:46655779:G/C
chr22:46655948	allele_ref	T
chr22:46655948	allele_alt	C
chr22:46655948	seqdb_ref	T
chr22:46655948	snp_fw_seq3	ATT/ACT
chr22:46655948	snp_rv_seq3	AAT/AGT
chr22:46655948	func	missense
chr22:46655948	transcript	NM_006071
chr22:46655948	genomic	g.3272T>C
chr22:46655948	codon	c.3272AAT>AGT
chr22:46655948	protein	p.1091N>S
chr22:46655948	worst	missense
chr22:46655948	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46655948	nvar	1
chr22:46655948	var	chr22:46655948:T/C
chr22:46656242	allele_ref	A
chr22:46656242	allele_alt	G
chr22:46656242	seqdb_ref	A
chr22:46656242	snp_fw_seq3	CAC/CGC
chr22:46656242	snp_rv_seq3	GTG/GCG
chr22:46656242	func	missense
chr22:46656242	transcript	NM_006071
chr22:46656242	genomic	g.2978A>G
chr22:46656242	codon	c.2978GTG>GCG
chr22:46656242	protein	p.993V>A
chr22:46656242	worst	missense
chr22:46656242	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46656242	nvar	1
chr22:46656242	var	chr22:46656242:A/G
chr22:46656246	allele_ref	T
chr22:46656246	allele_alt	G
chr22:46656246	seqdb_ref	T
chr22:46656246	snp_fw_seq3	GTG/GGG
chr22:46656246	snp_rv_seq3	CAC/CCC
chr22:46656246	func	missense
chr22:46656246	transcript	NM_006071
chr22:46656246	genomic	g.2974T>G
chr22:46656246	codon	c.2974ACA>CCA
chr22:46656246	protein	p.992T>P
chr22:46656246	worst	missense
chr22:46656246	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46656246	nvar	1
chr22:46656246	var	chr22:46656246:T/G
chr22:46656445	allele_ref	C
chr22:46656445	allele_alt	A
chr22:46656445	seqdb_ref	C
chr22:46656445	snp_fw_seq3	CCG/CAG
chr22:46656445	snp_rv_seq3	CGG/CTG
chr22:46656445	func	silent
chr22:46656445	transcript	NM_006071
chr22:46656445	genomic	.
chr22:46656445	codon	.
chr22:46656445	protein	.
chr22:46656445	worst	silent
chr22:46656445	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46656445	nvar	1
chr22:46656445	var	chr22:46656445:C/A
chr22:46656479	allele_ref	A
chr22:46656479	allele_alt	G
chr22:46656479	seqdb_ref	A
chr22:46656479	snp_fw_seq3	GAG/GGG
chr22:46656479	snp_rv_seq3	CTC/CCC
chr22:46656479	func	missense
chr22:46656479	transcript	NM_006071
chr22:46656479	genomic	g.2741A>G
chr22:46656479	codon	c.2741CTC>CCC
chr22:46656479	protein	p.914L>P
chr22:46656479	worst	missense
chr22:46656479	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46656479	nvar	1
chr22:46656479	var	chr22:46656479:A/G
chr22:46656511	allele_ref	A
chr22:46656511	allele_alt	G
chr22:46656511	seqdb_ref	A
chr22:46656511	snp_fw_seq3	AAA/AGA
chr22:46656511	snp_rv_seq3	TTT/TCT
chr22:46656511	func	silent
chr22:46656511	transcript	NM_006071
chr22:46656511	genomic	.
chr22:46656511	codon	.
chr22:46656511	protein	.
chr22:46656511	worst	silent
chr22:46656511	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46656511	nvar	1
chr22:46656511	var	chr22:46656511:A/G
chr22:46656562	allele_ref	A
chr22:46656562	allele_alt	G
chr22:46656562	seqdb_ref	A
chr22:46656562	snp_fw_seq3	GAT/GGT
chr22:46656562	snp_rv_seq3	ATC/ACC
chr22:46656562	func	silent
chr22:46656562	transcript	NM_006071
chr22:46656562	genomic	.
chr22:46656562	codon	.
chr22:46656562	protein	.
chr22:46656562	worst	silent
chr22:46656562	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46656562	nvar	1
chr22:46656562	var	chr22:46656562:A/G
chr22:46656607	allele_ref	G
chr22:46656607	allele_alt	A
chr22:46656607	seqdb_ref	G
chr22:46656607	snp_fw_seq3	TGA/TAA
chr22:46656607	snp_rv_seq3	TCA/TTA
chr22:46656607	func	silent
chr22:46656607	transcript	NM_006071
chr22:46656607	genomic	.
chr22:46656607	codon	.
chr22:46656607	protein	.
chr22:46656607	worst	silent
chr22:46656607	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46656607	nvar	1
chr22:46656607	var	chr22:46656607:G/A
chr22:46656805	allele_ref	G
chr22:46656805	allele_alt	A
chr22:46656805	seqdb_ref	G
chr22:46656805	snp_fw_seq3	CGA/CAA
chr22:46656805	snp_rv_seq3	TCG/TTG
chr22:46656805	func	silent
chr22:46656805	transcript	NM_006071
chr22:46656805	genomic	.
chr22:46656805	codon	.
chr22:46656805	protein	.
chr22:46656805	worst	silent
chr22:46656805	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46656805	nvar	1
chr22:46656805	var	chr22:46656805:G/A
chr22:46656831	allele_ref	G
chr22:46656831	allele_alt	A
chr22:46656831	seqdb_ref	G
chr22:46656831	snp_fw_seq3	CGT/CAT
chr22:46656831	snp_rv_seq3	ACG/ATG
chr22:46656831	func	missense
chr22:46656831	transcript	NM_006071
chr22:46656831	genomic	g.2389G>A
chr22:46656831	codon	c.2389CGC>TGC
chr22:46656831	protein	p.797R>C
chr22:46656831	worst	missense
chr22:46656831	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46656831	nvar	1
chr22:46656831	var	chr22:46656831:G/A
chr22:46657090	allele_ref	C
chr22:46657090	allele_alt	T
chr22:46657090	seqdb_ref	C
chr22:46657090	snp_fw_seq3	ACA/ATA
chr22:46657090	snp_rv_seq3	TGT/TAT
chr22:46657090	func	silent
chr22:46657090	transcript	NM_006071
chr22:46657090	genomic	.
chr22:46657090	codon	.
chr22:46657090	protein	.
chr22:46657090	worst	silent
chr22:46657090	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46657090	nvar	1
chr22:46657090	var	chr22:46657090:C/T
chr22:46657143	allele_ref	A
chr22:46657143	allele_alt	G
chr22:46657143	seqdb_ref	A
chr22:46657143	snp_fw_seq3	AAT/AGT
chr22:46657143	snp_rv_seq3	ATT/ACT
chr22:46657143	func	silent
chr22:46657143	transcript	NM_006071
chr22:46657143	genomic	.
chr22:46657143	codon	.
chr22:46657143	protein	.
chr22:46657143	worst	silent
chr22:46657143	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46657143	nvar	1
chr22:46657143	var	chr22:46657143:A/G
chr22:46657261	allele_ref	A
chr22:46657261	allele_alt	G
chr22:46657261	seqdb_ref	A
chr22:46657261	snp_fw_seq3	AAT/AGT
chr22:46657261	snp_rv_seq3	ATT/ACT
chr22:46657261	func	silent
chr22:46657261	transcript	NM_006071
chr22:46657261	genomic	.
chr22:46657261	codon	.
chr22:46657261	protein	.
chr22:46657261	worst	silent
chr22:46657261	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46657261	nvar	1
chr22:46657261	var	chr22:46657261:A/G
chr22:46657308	allele_ref	T
chr22:46657308	allele_alt	C
chr22:46657308	seqdb_ref	T
chr22:46657308	snp_fw_seq3	ATA/ACA
chr22:46657308	snp_rv_seq3	TAT/TGT
chr22:46657308	func	missense
chr22:46657308	transcript	NM_006071
chr22:46657308	genomic	g.1912T>C
chr22:46657308	codon	c.1912ATG>GTG
chr22:46657308	protein	p.638M>V
chr22:46657308	worst	missense
chr22:46657308	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46657308	nvar	1
chr22:46657308	var	chr22:46657308:T/C
chr22:46657485	allele_ref	T
chr22:46657485	allele_alt	C
chr22:46657485	seqdb_ref	T
chr22:46657485	snp_fw_seq3	TTA/TCA
chr22:46657485	snp_rv_seq3	TAA/TGA
chr22:46657485	func	missense
chr22:46657485	transcript	NM_006071
chr22:46657485	genomic	g.1735T>C
chr22:46657485	codon	c.1735AAA>GAA
chr22:46657485	protein	p.579K>E
chr22:46657485	worst	missense
chr22:46657485	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46657485	nvar	1
chr22:46657485	var	chr22:46657485:T/C
chr22:46657637	allele_ref	C
chr22:46657637	allele_alt	T
chr22:46657637	seqdb_ref	C
chr22:46657637	snp_fw_seq3	CCG/CTG
chr22:46657637	snp_rv_seq3	CGG/CAG
chr22:46657637	func	missense
chr22:46657637	transcript	NM_006071
chr22:46657637	genomic	g.1583C>T
chr22:46657637	codon	c.1583CGG>CAG
chr22:46657637	protein	p.528R>Q
chr22:46657637	worst	missense
chr22:46657637	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46657637	nvar	1
chr22:46657637	var	chr22:46657637:C/T
chr22:46657798	allele_ref	A
chr22:46657798	allele_alt	G
chr22:46657798	seqdb_ref	A
chr22:46657798	snp_fw_seq3	TAT/TGT
chr22:46657798	snp_rv_seq3	ATA/ACA
chr22:46657798	func	silent
chr22:46657798	transcript	NM_006071
chr22:46657798	genomic	.
chr22:46657798	codon	.
chr22:46657798	protein	.
chr22:46657798	worst	silent
chr22:46657798	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46657798	nvar	1
chr22:46657798	var	chr22:46657798:A/G
chr22:46658719	allele_ref	G
chr22:46658719	allele_alt	A
chr22:46658719	seqdb_ref	g
chr22:46658719	snp_fw_seq3	cgg/cAg
chr22:46658719	snp_rv_seq3	ccg/cTg
chr22:46658719	func	silent
chr22:46658719	transcript	NM_006071
chr22:46658719	genomic	.
chr22:46658719	codon	.
chr22:46658719	protein	.
chr22:46658719	worst	silent
chr22:46658719	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46658719	nvar	1
chr22:46658719	var	chr22:46658719:G/A
chr22:46658725	allele_ref	G
chr22:46658725	allele_alt	C
chr22:46658725	seqdb_ref	g
chr22:46658725	snp_fw_seq3	agc/aCc
chr22:46658725	snp_rv_seq3	gct/gGt
chr22:46658725	func	silent
chr22:46658725	transcript	NM_006071
chr22:46658725	genomic	.
chr22:46658725	codon	.
chr22:46658725	protein	.
chr22:46658725	worst	silent
chr22:46658725	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46658725	nvar	1
chr22:46658725	var	chr22:46658725:G/C
chr22:46664412	allele_ref	C
chr22:46664412	allele_alt	T
chr22:46664412	seqdb_ref	C
chr22:46664412	snp_fw_seq3	GCC/GTC
chr22:46664412	snp_rv_seq3	GGC/GAC
chr22:46664412	func	splice,missense
chr22:46664412	annot_details	DIST=1,NMD=0,OFPTV=1,EXIN=2,ISEQ=CTGTAG,ESEQ=GCCTGG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS2+1C>T
chr22:46664412	transcript	NM_017931,NM_017931
chr22:46664412	genomic	.,g.35C>T
chr22:46664412	codon	.,c.35GCC>GTC
chr22:46664412	protein	.,p.12A>V
chr22:46664412	worst	missense
chr22:46664412	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46664412	nvar	1
chr22:46664412	var	chr22:46664412:C/T
chr22:46664431	allele_ref	C
chr22:46664431	allele_alt	G
chr22:46664431	seqdb_ref	C
chr22:46664431	snp_fw_seq3	TCC/TGC
chr22:46664431	snp_rv_seq3	GGA/GCA
chr22:46664431	func	silent
chr22:46664431	transcript	NM_017931
chr22:46664431	genomic	.
chr22:46664431	codon	.
chr22:46664431	protein	.
chr22:46664431	worst	silent
chr22:46664431	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46664431	nvar	1
chr22:46664431	var	chr22:46664431:C/G
chr22:46668352	allele_ref	A
chr22:46668352	allele_alt	G
chr22:46668352	seqdb_ref	A
chr22:46668352	snp_fw_seq3	CAC/CGC
chr22:46668352	snp_rv_seq3	GTG/GCG
chr22:46668352	func	intronic
chr22:46668352	transcript	NM_017931
chr22:46668352	genomic	.
chr22:46668352	codon	.
chr22:46668352	protein	.
chr22:46668352	worst	intronic
chr22:46668352	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46668352	nvar	1
chr22:46668352	var	chr22:46668352:A/G
chr22:46671154	allele_ref	G
chr22:46671154	allele_alt	A
chr22:46671154	seqdb_ref	G
chr22:46671154	snp_fw_seq3	CGA/CAA
chr22:46671154	snp_rv_seq3	TCG/TTG
chr22:46671154	func	silent
chr22:46671154	transcript	NM_017931
chr22:46671154	genomic	.
chr22:46671154	codon	.
chr22:46671154	protein	.
chr22:46671154	worst	silent
chr22:46671154	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46671154	nvar	1
chr22:46671154	var	chr22:46671154:G/A
chr22:46671196	allele_ref	G
chr22:46671196	allele_alt	A
chr22:46671196	seqdb_ref	G
chr22:46671196	snp_fw_seq3	CGA/CAA
chr22:46671196	snp_rv_seq3	TCG/TTG
chr22:46671196	func	silent
chr22:46671196	transcript	NM_017931
chr22:46671196	genomic	.
chr22:46671196	codon	.
chr22:46671196	protein	.
chr22:46671196	worst	silent
chr22:46671196	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46671196	nvar	1
chr22:46671196	var	chr22:46671196:G/A
chr22:46671241	allele_ref	C
chr22:46671241	allele_alt	T
chr22:46671241	seqdb_ref	C
chr22:46671241	snp_fw_seq3	ACC/ATC
chr22:46671241	snp_rv_seq3	GGT/GAT
chr22:46671241	func	silent
chr22:46671241	transcript	NM_017931
chr22:46671241	genomic	.
chr22:46671241	codon	.
chr22:46671241	protein	.
chr22:46671241	worst	silent
chr22:46671241	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46671241	nvar	1
chr22:46671241	var	chr22:46671241:C/T
chr22:46674603	allele_ref	C
chr22:46674603	allele_alt	T
chr22:46674603	seqdb_ref	C
chr22:46674603	snp_fw_seq3	CCG/CTG
chr22:46674603	snp_rv_seq3	CGG/CAG
chr22:46674603	func	intronic
chr22:46674603	transcript	NM_017931
chr22:46674603	genomic	.
chr22:46674603	codon	.
chr22:46674603	protein	.
chr22:46674603	worst	intronic
chr22:46674603	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46674603	nvar	1
chr22:46674603	var	chr22:46674603:C/T
chr22:46677483	allele_ref	G
chr22:46677483	allele_alt	A
chr22:46677483	seqdb_ref	G
chr22:46677483	snp_fw_seq3	CGC/CAC
chr22:46677483	snp_rv_seq3	GCG/GTG
chr22:46677483	func	intronic
chr22:46677483	transcript	NM_017931
chr22:46677483	genomic	.
chr22:46677483	codon	.
chr22:46677483	protein	.
chr22:46677483	worst	intronic
chr22:46677483	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46677483	nvar	1
chr22:46677483	var	chr22:46677483:G/A
chr22:46679851	allele_ref	T
chr22:46679851	allele_alt	G
chr22:46679851	seqdb_ref	T
chr22:46679851	snp_fw_seq3	CTT/CGT
chr22:46679851	snp_rv_seq3	AAG/ACG
chr22:46679851	func	intronic
chr22:46679851	transcript	NM_017931
chr22:46679851	genomic	.
chr22:46679851	codon	.
chr22:46679851	protein	.
chr22:46679851	worst	intronic
chr22:46679851	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46679851	nvar	1
chr22:46679851	var	chr22:46679851:T/G
chr22:46681173	allele_ref	C
chr22:46681173	allele_alt	G
chr22:46681173	seqdb_ref	C
chr22:46681173	snp_fw_seq3	CCC/CGC
chr22:46681173	snp_rv_seq3	GGG/GCG
chr22:46681173	func	silent,splice
chr22:46681173	annot_details	DIST=-3,NMD=0,OFPTV=1,EXIN=9,ISEQ=GTAAGT,ESEQ=ACCCAC,SPLICE_TYPE=donor,ALT=G,HGVS=c.IVS9+-3C>G
chr22:46681173	transcript	NM_017931,NM_017931
chr22:46681173	genomic	.,.
chr22:46681173	codon	.,.
chr22:46681173	protein	.,.
chr22:46681173	worst	splice
chr22:46681173	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46681173	nvar	1
chr22:46681173	var	chr22:46681173:C/G
chr22:46682995	allele_ref	A
chr22:46682995	allele_alt	G
chr22:46682995	seqdb_ref	A
chr22:46682995	snp_fw_seq3	GAT/GGT
chr22:46682995	snp_rv_seq3	ATC/ACC
chr22:46682995	func	missense
chr22:46682995	transcript	NM_017931
chr22:46682995	genomic	g.860A>G
chr22:46682995	codon	c.860GAT>GGT
chr22:46682995	protein	p.287D>G
chr22:46682995	worst	missense
chr22:46682995	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46682995	nvar	1
chr22:46682995	var	chr22:46682995:A/G
chr22:46685249	allele_ref	G
chr22:46685249	allele_alt	A
chr22:46685249	seqdb_ref	G
chr22:46685249	snp_fw_seq3	CGG/CAG
chr22:46685249	snp_rv_seq3	CCG/CTG
chr22:46685249	func	intronic
chr22:46685249	transcript	NM_017931
chr22:46685249	genomic	.
chr22:46685249	codon	.
chr22:46685249	protein	.
chr22:46685249	worst	intronic
chr22:46685249	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46685249	nvar	1
chr22:46685249	var	chr22:46685249:G/A
chr22:46704013	allele_ref	G
chr22:46704013	allele_alt	A
chr22:46704013	seqdb_ref	G
chr22:46704013	snp_fw_seq3	TGG/TAG
chr22:46704013	snp_rv_seq3	CCA/CTA
chr22:46704013	func	intronic
chr22:46704013	transcript	NM_016426
chr22:46704013	genomic	.
chr22:46704013	codon	.
chr22:46704013	protein	.
chr22:46704013	worst	intronic
chr22:46704013	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46704013	nvar	1
chr22:46704013	var	chr22:46704013:G/A
chr22:46704243	allele_ref	C
chr22:46704243	allele_alt	T
chr22:46704243	seqdb_ref	C
chr22:46704243	snp_fw_seq3	TCG/TTG
chr22:46704243	snp_rv_seq3	CGA/CAA
chr22:46704243	func	silent
chr22:46704243	transcript	NM_016426
chr22:46704243	genomic	.
chr22:46704243	codon	.
chr22:46704243	protein	.
chr22:46704243	worst	silent
chr22:46704243	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46704243	nvar	1
chr22:46704243	var	chr22:46704243:C/T
chr22:46704555	allele_ref	G
chr22:46704555	allele_alt	A
chr22:46704555	seqdb_ref	G
chr22:46704555	snp_fw_seq3	CGT/CAT
chr22:46704555	snp_rv_seq3	ACG/ATG
chr22:46704555	func	silent
chr22:46704555	transcript	NM_016426
chr22:46704555	genomic	.
chr22:46704555	codon	.
chr22:46704555	protein	.
chr22:46704555	worst	silent
chr22:46704555	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46704555	nvar	1
chr22:46704555	var	chr22:46704555:G/A
chr22:46704580	allele_ref	C
chr22:46704580	allele_alt	T
chr22:46704580	seqdb_ref	C
chr22:46704580	snp_fw_seq3	CCT/CTT
chr22:46704580	snp_rv_seq3	AGG/AAG
chr22:46704580	func	silent
chr22:46704580	transcript	NM_016426
chr22:46704580	genomic	.
chr22:46704580	codon	.
chr22:46704580	protein	.
chr22:46704580	worst	silent
chr22:46704580	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46704580	nvar	1
chr22:46704580	var	chr22:46704580:C/T
chr22:46704610	allele_ref	G
chr22:46704610	allele_alt	T
chr22:46704610	seqdb_ref	G
chr22:46704610	snp_fw_seq3	TGT/TTT
chr22:46704610	snp_rv_seq3	ACA/AAA
chr22:46704610	func	missense
chr22:46704610	transcript	NM_016426
chr22:46704610	genomic	g.532G>T
chr22:46704610	codon	c.532GTG>TTG
chr22:46704610	protein	p.178V>L
chr22:46704610	worst	missense
chr22:46704610	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46704610	nvar	1
chr22:46704610	var	chr22:46704610:G/T
chr22:46704676	allele_ref	A
chr22:46704676	allele_alt	G
chr22:46704676	seqdb_ref	A
chr22:46704676	snp_fw_seq3	CAC/CGC
chr22:46704676	snp_rv_seq3	GTG/GCG
chr22:46704676	func	missense
chr22:46704676	transcript	NM_016426
chr22:46704676	genomic	g.598A>G
chr22:46704676	codon	c.598ACC>GCC
chr22:46704676	protein	p.200T>A
chr22:46704676	worst	missense
chr22:46704676	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46704676	nvar	1
chr22:46704676	var	chr22:46704676:A/G
chr22:46704734	allele_ref	C
chr22:46704734	allele_alt	T
chr22:46704734	seqdb_ref	C
chr22:46704734	snp_fw_seq3	GCT/GTT
chr22:46704734	snp_rv_seq3	AGC/AAC
chr22:46704734	func	missense
chr22:46704734	transcript	NM_016426
chr22:46704734	genomic	g.656C>T
chr22:46704734	codon	c.656GCT>GTT
chr22:46704734	protein	p.219A>V
chr22:46704734	worst	missense
chr22:46704734	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46704734	nvar	1
chr22:46704734	var	chr22:46704734:C/T
chr22:46704771	allele_ref	C
chr22:46704771	allele_alt	T
chr22:46704771	seqdb_ref	C
chr22:46704771	snp_fw_seq3	CCG/CTG
chr22:46704771	snp_rv_seq3	CGG/CAG
chr22:46704771	func	silent
chr22:46704771	transcript	NM_016426
chr22:46704771	genomic	.
chr22:46704771	codon	.
chr22:46704771	protein	.
chr22:46704771	worst	silent
chr22:46704771	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46704771	nvar	1
chr22:46704771	var	chr22:46704771:C/T
chr22:46708152	allele_ref	G
chr22:46708152	allele_alt	A
chr22:46708152	seqdb_ref	G
chr22:46708152	snp_fw_seq3	CGC/CAC
chr22:46708152	snp_rv_seq3	GCG/GTG
chr22:46708152	func	missense
chr22:46708152	transcript	NM_016426
chr22:46708152	genomic	g.877G>A
chr22:46708152	codon	c.877GCC>ACC
chr22:46708152	protein	p.293A>T
chr22:46708152	worst	missense
chr22:46708152	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46708152	nvar	1
chr22:46708152	var	chr22:46708152:G/A
chr22:46709881	allele_ref	G
chr22:46709881	allele_alt	A
chr22:46709881	seqdb_ref	G
chr22:46709881	snp_fw_seq3	AGT/AAT
chr22:46709881	snp_rv_seq3	ACT/ATT
chr22:46709881	func	missense
chr22:46709881	transcript	NM_016426
chr22:46709881	genomic	g.1022G>A
chr22:46709881	codon	c.1022AGT>AAT
chr22:46709881	protein	p.341S>N
chr22:46709881	worst	missense
chr22:46709881	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46709881	nvar	1
chr22:46709881	var	chr22:46709881:G/A
chr22:46719054	allele_ref	T
chr22:46719054	allele_alt	C
chr22:46719054	seqdb_ref	T
chr22:46719054	snp_fw_seq3	TTA/TCA
chr22:46719054	snp_rv_seq3	TAA/TGA
chr22:46719054	func	intronic
chr22:46719054	transcript	NM_016426
chr22:46719054	genomic	.
chr22:46719054	codon	.
chr22:46719054	protein	.
chr22:46719054	worst	intronic
chr22:46719054	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46719054	nvar	1
chr22:46719054	var	chr22:46719054:T/C
chr22:46719100	allele_ref	C
chr22:46719100	allele_alt	G
chr22:46719100	seqdb_ref	C
chr22:46719100	snp_fw_seq3	ACA/AGA
chr22:46719100	snp_rv_seq3	TGT/TCT
chr22:46719100	func	missense
chr22:46719100	transcript	NM_016426
chr22:46719100	genomic	g.1446C>G
chr22:46719100	codon	c.1446GAC>GAG
chr22:46719100	protein	p.482D>E
chr22:46719100	worst	missense
chr22:46719100	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46719100	nvar	1
chr22:46719100	var	chr22:46719100:C/G
chr22:46719171	allele_ref	T
chr22:46719171	allele_alt	C
chr22:46719171	seqdb_ref	T
chr22:46719171	snp_fw_seq3	TTG/TCG
chr22:46719171	snp_rv_seq3	CAA/CGA
chr22:46719171	func	intronic
chr22:46719171	transcript	NM_016426
chr22:46719171	genomic	.
chr22:46719171	codon	.
chr22:46719171	protein	.
chr22:46719171	worst	intronic
chr22:46719171	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46719171	nvar	1
chr22:46719171	var	chr22:46719171:T/C
chr22:46719177	allele_ref	G
chr22:46719177	allele_alt	A
chr22:46719177	seqdb_ref	G
chr22:46719177	snp_fw_seq3	CGC/CAC
chr22:46719177	snp_rv_seq3	GCG/GTG
chr22:46719177	func	intronic
chr22:46719177	transcript	NM_016426
chr22:46719177	genomic	.
chr22:46719177	codon	.
chr22:46719177	protein	.
chr22:46719177	worst	intronic
chr22:46719177	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46719177	nvar	1
chr22:46719177	var	chr22:46719177:G/A
chr22:46719185	allele_ref	T
chr22:46719185	allele_alt	C
chr22:46719185	seqdb_ref	T
chr22:46719185	snp_fw_seq3	CTC/CCC
chr22:46719185	snp_rv_seq3	GAG/GGG
chr22:46719185	func	intronic
chr22:46719185	transcript	NM_016426
chr22:46719185	genomic	.
chr22:46719185	codon	.
chr22:46719185	protein	.
chr22:46719185	worst	intronic
chr22:46719185	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46719185	nvar	1
chr22:46719185	var	chr22:46719185:T/C
chr22:46722397	allele_ref	G
chr22:46722397	allele_alt	A
chr22:46722397	seqdb_ref	G
chr22:46722397	snp_fw_seq3	CGC/CAC
chr22:46722397	snp_rv_seq3	GCG/GTG
chr22:46722397	func	missense
chr22:46722397	transcript	NM_016426
chr22:46722397	genomic	g.1570G>A
chr22:46722397	codon	c.1570GCA>ACA
chr22:46722397	protein	p.524A>T
chr22:46722397	worst	missense
chr22:46722397	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46722397	nvar	1
chr22:46722397	var	chr22:46722397:G/A
chr22:46722400	allele_ref	T
chr22:46722400	allele_alt	C
chr22:46722400	seqdb_ref	T
chr22:46722400	snp_fw_seq3	ATG/ACG
chr22:46722400	snp_rv_seq3	CAT/CGT
chr22:46722400	func	missense
chr22:46722400	transcript	NM_016426
chr22:46722400	genomic	g.1573T>C
chr22:46722400	codon	c.1573TGG>CGG
chr22:46722400	protein	p.525W>R
chr22:46722400	worst	missense
chr22:46722400	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46722400	nvar	1
chr22:46722400	var	chr22:46722400:T/C
chr22:46722426	allele_ref	C
chr22:46722426	allele_alt	T
chr22:46722426	seqdb_ref	C
chr22:46722426	snp_fw_seq3	CCG/CTG
chr22:46722426	snp_rv_seq3	CGG/CAG
chr22:46722426	func	silent
chr22:46722426	transcript	NM_016426
chr22:46722426	genomic	.
chr22:46722426	codon	.
chr22:46722426	protein	.
chr22:46722426	worst	silent
chr22:46722426	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46722426	nvar	1
chr22:46722426	var	chr22:46722426:C/T
chr22:46722560	allele_ref	C
chr22:46722560	allele_alt	T
chr22:46722560	seqdb_ref	C
chr22:46722560	snp_fw_seq3	ACG/ATG
chr22:46722560	snp_rv_seq3	CGT/CAT
chr22:46722560	func	intronic
chr22:46722560	transcript	NM_016426
chr22:46722560	genomic	.
chr22:46722560	codon	.
chr22:46722560	protein	.
chr22:46722560	worst	intronic
chr22:46722560	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46722560	nvar	1
chr22:46722560	var	chr22:46722560:C/T
chr22:46724558	allele_ref	T
chr22:46724558	allele_alt	C
chr22:46724558	seqdb_ref	T
chr22:46724558	snp_fw_seq3	TTC/TCC
chr22:46724558	snp_rv_seq3	GAA/GGA
chr22:46724558	func	intronic
chr22:46724558	transcript	NM_016426
chr22:46724558	genomic	.
chr22:46724558	codon	.
chr22:46724558	protein	.
chr22:46724558	worst	intronic
chr22:46724558	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46724558	nvar	1
chr22:46724558	var	chr22:46724558:T/C
chr22:46724769	allele_ref	G
chr22:46724769	allele_alt	C
chr22:46724769	seqdb_ref	G
chr22:46724769	snp_fw_seq3	AGA/ACA
chr22:46724769	snp_rv_seq3	TCT/TGT
chr22:46724769	func	missense
chr22:46724769	transcript	NM_016426
chr22:46724769	genomic	g.1909G>C
chr22:46724769	codon	c.1909GAT>CAT
chr22:46724769	protein	p.637D>H
chr22:46724769	worst	missense
chr22:46724769	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46724769	nvar	1
chr22:46724769	var	chr22:46724769:G/C
chr22:46724801	allele_ref	C
chr22:46724801	allele_alt	T
chr22:46724801	seqdb_ref	C
chr22:46724801	snp_fw_seq3	GCG/GTG
chr22:46724801	snp_rv_seq3	CGC/CAC
chr22:46724801	func	intronic
chr22:46724801	transcript	NM_016426
chr22:46724801	genomic	.
chr22:46724801	codon	.
chr22:46724801	protein	.
chr22:46724801	worst	intronic
chr22:46724801	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46724801	nvar	1
chr22:46724801	var	chr22:46724801:C/T
chr22:46725288	allele_ref	G
chr22:46725288	allele_alt	A
chr22:46725288	seqdb_ref	G
chr22:46725288	snp_fw_seq3	CGC/CAC
chr22:46725288	snp_rv_seq3	GCG/GTG
chr22:46725288	func	missense
chr22:46725288	transcript	NM_016426
chr22:46725288	genomic	g.1960G>A
chr22:46725288	codon	c.1960GCG>ACG
chr22:46725288	protein	p.654A>T
chr22:46725288	worst	missense
chr22:46725288	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46725288	nvar	1
chr22:46725288	var	chr22:46725288:G/A
chr22:46725350	allele_ref	T
chr22:46725350	allele_alt	C
chr22:46725350	seqdb_ref	T
chr22:46725350	snp_fw_seq3	ATA/ACA
chr22:46725350	snp_rv_seq3	TAT/TGT
chr22:46725350	func	silent
chr22:46725350	transcript	NM_016426
chr22:46725350	genomic	.
chr22:46725350	codon	.
chr22:46725350	protein	.
chr22:46725350	worst	silent
chr22:46725350	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46725350	nvar	1
chr22:46725350	var	chr22:46725350:T/C
chr22:46731689	allele_ref	G
chr22:46731689	allele_alt	T
chr22:46731689	seqdb_ref	G
chr22:46731689	snp_fw_seq3	CGC/CTC
chr22:46731689	snp_rv_seq3	GCG/GAG
chr22:46731689	func	missense
chr22:46731689	transcript	NM_018006
chr22:46731689	genomic	g.28G>T
chr22:46731689	codon	c.28GCC>TCC
chr22:46731689	protein	p.10A>S
chr22:46731689	worst	missense
chr22:46731689	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46731689	nvar	1
chr22:46731689	var	chr22:46731689:G/T
chr22:46731771	allele_ref	G
chr22:46731771	allele_alt	C
chr22:46731771	seqdb_ref	G
chr22:46731771	snp_fw_seq3	CGC/CCC
chr22:46731771	snp_rv_seq3	GCG/GGG
chr22:46731771	func	intronic
chr22:46731771	transcript	NM_018006
chr22:46731771	genomic	.
chr22:46731771	codon	.
chr22:46731771	protein	.
chr22:46731771	worst	intronic
chr22:46731771	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46731771	nvar	1
chr22:46731771	var	chr22:46731771:G/C
chr22:46731791	allele_ref	G
chr22:46731791	allele_alt	A
chr22:46731791	seqdb_ref	G
chr22:46731791	snp_fw_seq3	GGA/GAA
chr22:46731791	snp_rv_seq3	TCC/TTC
chr22:46731791	func	intronic
chr22:46731791	transcript	NM_018006
chr22:46731791	genomic	.
chr22:46731791	codon	.
chr22:46731791	protein	.
chr22:46731791	worst	intronic
chr22:46731791	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46731791	nvar	1
chr22:46731791	var	chr22:46731791:G/A
chr22:46733657	allele_ref	T
chr22:46733657	allele_alt	C
chr22:46733657	seqdb_ref	T
chr22:46733657	snp_fw_seq3	ATT/ACT
chr22:46733657	snp_rv_seq3	AAT/AGT
chr22:46733657	func	intronic
chr22:46733657	transcript	NM_018006
chr22:46733657	genomic	.
chr22:46733657	codon	.
chr22:46733657	protein	.
chr22:46733657	worst	intronic
chr22:46733657	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46733657	nvar	1
chr22:46733657	var	chr22:46733657:T/C
chr22:46733888	allele_ref	C
chr22:46733888	allele_alt	G
chr22:46733888	seqdb_ref	C
chr22:46733888	snp_fw_seq3	TCC/TGC
chr22:46733888	snp_rv_seq3	GGA/GCA
chr22:46733888	func	intronic
chr22:46733888	transcript	NM_018006
chr22:46733888	genomic	.
chr22:46733888	codon	.
chr22:46733888	protein	.
chr22:46733888	worst	intronic
chr22:46733888	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46733888	nvar	1
chr22:46733888	var	chr22:46733888:C/G
chr22:46739140	allele_ref	T
chr22:46739140	allele_alt	A
chr22:46739140	seqdb_ref	T
chr22:46739140	snp_fw_seq3	GTC/GAC
chr22:46739140	snp_rv_seq3	GAC/GTC
chr22:46739140	func	intronic
chr22:46739140	transcript	NM_018006
chr22:46739140	genomic	.
chr22:46739140	codon	.
chr22:46739140	protein	.
chr22:46739140	worst	intronic
chr22:46739140	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46739140	nvar	1
chr22:46739140	var	chr22:46739140:T/A
chr22:46742405	allele_ref	G
chr22:46742405	allele_alt	A
chr22:46742405	seqdb_ref	G
chr22:46742405	snp_fw_seq3	CGA/CAA
chr22:46742405	snp_rv_seq3	TCG/TTG
chr22:46742405	func	missense
chr22:46742405	transcript	NM_018006
chr22:46742405	genomic	g.442G>A
chr22:46742405	codon	c.442GAA>AAA
chr22:46742405	protein	p.148E>K
chr22:46742405	worst	missense
chr22:46742405	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46742405	nvar	1
chr22:46742405	var	chr22:46742405:G/A
chr22:46742486	allele_ref	T
chr22:46742486	allele_alt	G
chr22:46742486	seqdb_ref	T
chr22:46742486	snp_fw_seq3	ATT/AGT
chr22:46742486	snp_rv_seq3	AAT/ACT
chr22:46742486	func	intronic
chr22:46742486	transcript	NM_018006
chr22:46742486	genomic	.
chr22:46742486	codon	.
chr22:46742486	protein	.
chr22:46742486	worst	intronic
chr22:46742486	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46742486	nvar	1
chr22:46742486	var	chr22:46742486:T/G
chr22:46746188	allele_ref	C
chr22:46746188	allele_alt	T
chr22:46746188	seqdb_ref	C
chr22:46746188	snp_fw_seq3	GCG/GTG
chr22:46746188	snp_rv_seq3	CGC/CAC
chr22:46746188	func	splice,missense
chr22:46746188	annot_details	DIST=0,NMD=0,OFPTV=0,EXIN=5,ISEQ=TGGCAG,ESEQ=CGGTAA,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS5+0C>T
chr22:46746188	transcript	NM_018006,NM_018006
chr22:46746188	genomic	.,g.479C>T
chr22:46746188	codon	.,c.479GCG>GTG
chr22:46746188	protein	.,p.160A>V
chr22:46746188	worst	missense
chr22:46746188	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46746188	nvar	1
chr22:46746188	var	chr22:46746188:C/T
chr22:46746261	allele_ref	C
chr22:46746261	allele_alt	T
chr22:46746261	seqdb_ref	C
chr22:46746261	snp_fw_seq3	CCC/CTC
chr22:46746261	snp_rv_seq3	GGG/GAG
chr22:46746261	func	silent
chr22:46746261	transcript	NM_018006
chr22:46746261	genomic	.
chr22:46746261	codon	.
chr22:46746261	protein	.
chr22:46746261	worst	silent
chr22:46746261	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46746261	nvar	1
chr22:46746261	var	chr22:46746261:C/T
chr22:46746407	allele_ref	G
chr22:46746407	allele_alt	A
chr22:46746407	seqdb_ref	G
chr22:46746407	snp_fw_seq3	CGA/CAA
chr22:46746407	snp_rv_seq3	TCG/TTG
chr22:46746407	func	intronic
chr22:46746407	transcript	NM_018006
chr22:46746407	genomic	.
chr22:46746407	codon	.
chr22:46746407	protein	.
chr22:46746407	worst	intronic
chr22:46746407	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46746407	nvar	1
chr22:46746407	var	chr22:46746407:G/A
chr22:46748130	allele_ref	C
chr22:46748130	allele_alt	G
chr22:46748130	seqdb_ref	C
chr22:46748130	snp_fw_seq3	TCT/TGT
chr22:46748130	snp_rv_seq3	AGA/ACA
chr22:46748130	func	intronic
chr22:46748130	transcript	NM_018006
chr22:46748130	genomic	.
chr22:46748130	codon	.
chr22:46748130	protein	.
chr22:46748130	worst	intronic
chr22:46748130	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46748130	nvar	1
chr22:46748130	var	chr22:46748130:C/G
chr22:46749755	allele_ref	C
chr22:46749755	allele_alt	T
chr22:46749755	seqdb_ref	C
chr22:46749755	snp_fw_seq3	ACG/ATG
chr22:46749755	snp_rv_seq3	CGT/CAT
chr22:46749755	func	silent
chr22:46749755	transcript	NM_018006
chr22:46749755	genomic	.
chr22:46749755	codon	.
chr22:46749755	protein	.
chr22:46749755	worst	silent
chr22:46749755	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46749755	nvar	1
chr22:46749755	var	chr22:46749755:C/T
chr22:46751367	allele_ref	G
chr22:46751367	allele_alt	T
chr22:46751367	seqdb_ref	G
chr22:46751367	snp_fw_seq3	TGT/TTT
chr22:46751367	snp_rv_seq3	ACA/AAA
chr22:46751367	func	silent
chr22:46751367	transcript	NM_018006
chr22:46751367	genomic	.
chr22:46751367	codon	.
chr22:46751367	protein	.
chr22:46751367	worst	silent
chr22:46751367	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46751367	nvar	1
chr22:46751367	var	chr22:46751367:G/T
chr22:46751394	allele_ref	C
chr22:46751394	allele_alt	T
chr22:46751394	seqdb_ref	C
chr22:46751394	snp_fw_seq3	GCG/GTG
chr22:46751394	snp_rv_seq3	CGC/CAC
chr22:46751394	func	silent
chr22:46751394	transcript	NM_018006
chr22:46751394	genomic	.
chr22:46751394	codon	.
chr22:46751394	protein	.
chr22:46751394	worst	silent
chr22:46751394	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46751394	nvar	1
chr22:46751394	var	chr22:46751394:C/T
chr22:46751443	allele_ref	A
chr22:46751443	allele_alt	G
chr22:46751443	seqdb_ref	A
chr22:46751443	snp_fw_seq3	GAT/GGT
chr22:46751443	snp_rv_seq3	ATC/ACC
chr22:46751443	func	missense
chr22:46751443	transcript	NM_018006
chr22:46751443	genomic	g.976A>G
chr22:46751443	codon	c.976ATG>GTG
chr22:46751443	protein	p.326M>V
chr22:46751443	worst	missense
chr22:46751443	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46751443	nvar	1
chr22:46751443	var	chr22:46751443:A/G
chr22:46752019	allele_ref	C
chr22:46752019	allele_alt	T
chr22:46752019	seqdb_ref	C
chr22:46752019	snp_fw_seq3	CCC/CTC
chr22:46752019	snp_rv_seq3	GGG/GAG
chr22:46752019	func	intronic
chr22:46752019	transcript	NM_018006
chr22:46752019	genomic	.
chr22:46752019	codon	.
chr22:46752019	protein	.
chr22:46752019	worst	intronic
chr22:46752019	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46752019	nvar	1
chr22:46752019	var	chr22:46752019:C/T
chr22:46752813	allele_ref	G
chr22:46752813	allele_alt	A
chr22:46752813	seqdb_ref	G
chr22:46752813	snp_fw_seq3	CGC/CAC
chr22:46752813	snp_rv_seq3	GCG/GTG
chr22:46752813	func	silent
chr22:46752813	transcript	NM_018006
chr22:46752813	genomic	.
chr22:46752813	codon	.
chr22:46752813	protein	.
chr22:46752813	worst	silent
chr22:46752813	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46752813	nvar	1
chr22:46752813	var	chr22:46752813:G/A
chr22:46752829	allele_ref	C
chr22:46752829	allele_alt	T
chr22:46752829	seqdb_ref	C
chr22:46752829	snp_fw_seq3	GCG/GTG
chr22:46752829	snp_rv_seq3	CGC/CAC
chr22:46752829	func	missense
chr22:46752829	transcript	NM_018006
chr22:46752829	genomic	g.1192C>T
chr22:46752829	codon	c.1192CGC>TGC
chr22:46752829	protein	p.398R>C
chr22:46752829	worst	missense
chr22:46752829	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46752829	nvar	1
chr22:46752829	var	chr22:46752829:C/T
chr22:46752911	allele_ref	G
chr22:46752911	allele_alt	C
chr22:46752911	seqdb_ref	G
chr22:46752911	snp_fw_seq3	TGG/TCG
chr22:46752911	snp_rv_seq3	CCA/CGA
chr22:46752911	func	3-UTR
chr22:46752911	transcript	NM_018006
chr22:46752911	genomic	.
chr22:46752911	codon	.
chr22:46752911	protein	.
chr22:46752911	worst	UTR3
chr22:46752911	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:46752911	nvar	1
chr22:46752911	var	chr22:46752911:G/C
chr22:46752946	allele_ref	T
chr22:46752946	allele_alt	G
chr22:46752946	seqdb_ref	T
chr22:46752946	snp_fw_seq3	ATG/AGG
chr22:46752946	snp_rv_seq3	CAT/CCT
chr22:46752946	func	3-UTR
chr22:46752946	transcript	NM_018006
chr22:46752946	genomic	.
chr22:46752946	codon	.
chr22:46752946	protein	.
chr22:46752946	worst	UTR3
chr22:46752946	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:46752946	nvar	1
chr22:46752946	var	chr22:46752946:T/G
chr22:46759934	allele_ref	A
chr22:46759934	allele_alt	G
chr22:46759934	seqdb_ref	A
chr22:46759934	snp_fw_seq3	CAT/CGT
chr22:46759934	snp_rv_seq3	ATG/ACG
chr22:46759934	func	silent
chr22:46759934	transcript	NM_014246
chr22:46759934	genomic	.
chr22:46759934	codon	.
chr22:46759934	protein	.
chr22:46759934	worst	silent
chr22:46759934	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46759934	nvar	1
chr22:46759934	var	chr22:46759934:A/G
chr22:46759967	allele_ref	C
chr22:46759967	allele_alt	T
chr22:46759967	seqdb_ref	C
chr22:46759967	snp_fw_seq3	CCG/CTG
chr22:46759967	snp_rv_seq3	CGG/CAG
chr22:46759967	func	silent
chr22:46759967	transcript	NM_014246
chr22:46759967	genomic	.
chr22:46759967	codon	.
chr22:46759967	protein	.
chr22:46759967	worst	silent
chr22:46759967	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46759967	nvar	1
chr22:46759967	var	chr22:46759967:C/T
chr22:46759981	allele_ref	G
chr22:46759981	allele_alt	C
chr22:46759981	seqdb_ref	G
chr22:46759981	snp_fw_seq3	GGG/GCG
chr22:46759981	snp_rv_seq3	CCC/CGC
chr22:46759981	func	missense
chr22:46759981	transcript	NM_014246
chr22:46759981	genomic	g.8947G>C
chr22:46759981	codon	c.8947CCT>GCT
chr22:46759981	protein	p.2983P>A
chr22:46759981	worst	missense
chr22:46759981	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46759981	nvar	1
chr22:46759981	var	chr22:46759981:G/C
chr22:46760037	allele_ref	G
chr22:46760037	allele_alt	A
chr22:46760037	seqdb_ref	G
chr22:46760037	snp_fw_seq3	CGA/CAA
chr22:46760037	snp_rv_seq3	TCG/TTG
chr22:46760037	func	missense
chr22:46760037	transcript	NM_014246
chr22:46760037	genomic	g.8891G>A
chr22:46760037	codon	c.8891TCG>TTG
chr22:46760037	protein	p.2964S>L
chr22:46760037	worst	missense
chr22:46760037	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46760037	nvar	1
chr22:46760037	var	chr22:46760037:G/A
chr22:46760086	allele_ref	C
chr22:46760086	allele_alt	T
chr22:46760086	seqdb_ref	C
chr22:46760086	snp_fw_seq3	CCC/CTC
chr22:46760086	snp_rv_seq3	GGG/GAG
chr22:46760086	func	missense
chr22:46760086	transcript	NM_014246
chr22:46760086	genomic	g.8842C>T
chr22:46760086	codon	c.8842GGC>AGC
chr22:46760086	protein	p.2948G>S
chr22:46760086	worst	missense
chr22:46760086	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46760086	nvar	1
chr22:46760086	var	chr22:46760086:C/T
chr22:46760102	allele_ref	C
chr22:46760102	allele_alt	T
chr22:46760102	seqdb_ref	C
chr22:46760102	snp_fw_seq3	CCG/CTG
chr22:46760102	snp_rv_seq3	CGG/CAG
chr22:46760102	func	silent
chr22:46760102	transcript	NM_014246
chr22:46760102	genomic	.
chr22:46760102	codon	.
chr22:46760102	protein	.
chr22:46760102	worst	silent
chr22:46760102	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46760102	nvar	1
chr22:46760102	var	chr22:46760102:C/T
chr22:46760121	allele_ref	G
chr22:46760121	allele_alt	A
chr22:46760121	seqdb_ref	G
chr22:46760121	snp_fw_seq3	CGG/CAG
chr22:46760121	snp_rv_seq3	CCG/CTG
chr22:46760121	func	missense
chr22:46760121	transcript	NM_014246
chr22:46760121	genomic	g.8807G>A
chr22:46760121	codon	c.8807CCG>CTG
chr22:46760121	protein	p.2936P>L
chr22:46760121	worst	missense
chr22:46760121	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46760121	nvar	1
chr22:46760121	var	chr22:46760121:G/A
chr22:46760394	allele_ref	G
chr22:46760394	allele_alt	A
chr22:46760394	seqdb_ref	G
chr22:46760394	snp_fw_seq3	CGG/CAG
chr22:46760394	snp_rv_seq3	CCG/CTG
chr22:46760394	func	intronic
chr22:46760394	transcript	NM_014246
chr22:46760394	genomic	.
chr22:46760394	codon	.
chr22:46760394	protein	.
chr22:46760394	worst	intronic
chr22:46760394	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46760394	nvar	1
chr22:46760394	var	chr22:46760394:G/A
chr22:46760481	allele_ref	C
chr22:46760481	allele_alt	G
chr22:46760481	seqdb_ref	C
chr22:46760481	snp_fw_seq3	TCT/TGT
chr22:46760481	snp_rv_seq3	AGA/ACA
chr22:46760481	func	missense
chr22:46760481	transcript	NM_014246
chr22:46760481	genomic	g.8707C>G
chr22:46760481	codon	c.8707GAG>CAG
chr22:46760481	protein	p.2903E>Q
chr22:46760481	worst	missense
chr22:46760481	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46760481	nvar	1
chr22:46760481	var	chr22:46760481:C/G
chr22:46760648	allele_ref	C
chr22:46760648	allele_alt	T
chr22:46760648	seqdb_ref	C
chr22:46760648	snp_fw_seq3	GCG/GTG
chr22:46760648	snp_rv_seq3	CGC/CAC
chr22:46760648	func	intronic
chr22:46760648	transcript	NM_014246
chr22:46760648	genomic	.
chr22:46760648	codon	.
chr22:46760648	protein	.
chr22:46760648	worst	intronic
chr22:46760648	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46760648	nvar	1
chr22:46760648	var	chr22:46760648:C/T
chr22:46760664	allele_ref	G
chr22:46760664	allele_alt	A
chr22:46760664	seqdb_ref	G
chr22:46760664	snp_fw_seq3	AGC/AAC
chr22:46760664	snp_rv_seq3	GCT/GTT
chr22:46760664	func	intronic
chr22:46760664	transcript	NM_014246
chr22:46760664	genomic	.
chr22:46760664	codon	.
chr22:46760664	protein	.
chr22:46760664	worst	intronic
chr22:46760664	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46760664	nvar	1
chr22:46760664	var	chr22:46760664:G/A
chr22:46761135	allele_ref	G
chr22:46761135	allele_alt	T
chr22:46761135	seqdb_ref	G
chr22:46761135	snp_fw_seq3	GGG/GTG
chr22:46761135	snp_rv_seq3	CCC/CAC
chr22:46761135	func	silent
chr22:46761135	transcript	NM_014246
chr22:46761135	genomic	.
chr22:46761135	codon	.
chr22:46761135	protein	.
chr22:46761135	worst	silent
chr22:46761135	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46761135	nvar	1
chr22:46761135	var	chr22:46761135:G/T
chr22:46761147	allele_ref	G
chr22:46761147	allele_alt	A
chr22:46761147	seqdb_ref	G
chr22:46761147	snp_fw_seq3	CGG/CAG
chr22:46761147	snp_rv_seq3	CCG/CTG
chr22:46761147	func	silent
chr22:46761147	transcript	NM_014246
chr22:46761147	genomic	.
chr22:46761147	codon	.
chr22:46761147	protein	.
chr22:46761147	worst	silent
chr22:46761147	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46761147	nvar	1
chr22:46761147	var	chr22:46761147:G/A
chr22:46761497	allele_ref	C
chr22:46761497	allele_alt	G
chr22:46761497	seqdb_ref	C
chr22:46761497	snp_fw_seq3	GCA/GGA
chr22:46761497	snp_rv_seq3	TGC/TCC
chr22:46761497	func	missense
chr22:46761497	transcript	NM_014246
chr22:46761497	genomic	g.8390C>G
chr22:46761497	codon	c.8390TGC>TCC
chr22:46761497	protein	p.2797C>S
chr22:46761497	worst	missense
chr22:46761497	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46761497	nvar	1
chr22:46761497	var	chr22:46761497:C/G
chr22:46761520	allele_ref	G
chr22:46761520	allele_alt	A
chr22:46761520	seqdb_ref	G
chr22:46761520	snp_fw_seq3	CGT/CAT
chr22:46761520	snp_rv_seq3	ACG/ATG
chr22:46761520	func	silent
chr22:46761520	transcript	NM_014246
chr22:46761520	genomic	.
chr22:46761520	codon	.
chr22:46761520	protein	.
chr22:46761520	worst	silent
chr22:46761520	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46761520	nvar	1
chr22:46761520	var	chr22:46761520:G/A
chr22:46762266	allele_ref	C
chr22:46762266	allele_alt	T
chr22:46762266	seqdb_ref	C
chr22:46762266	snp_fw_seq3	CCG/CTG
chr22:46762266	snp_rv_seq3	CGG/CAG
chr22:46762266	func	intronic
chr22:46762266	transcript	NM_014246
chr22:46762266	genomic	.
chr22:46762266	codon	.
chr22:46762266	protein	.
chr22:46762266	worst	intronic
chr22:46762266	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46762266	nvar	1
chr22:46762266	var	chr22:46762266:C/T
chr22:46762854	allele_ref	A
chr22:46762854	allele_alt	G
chr22:46762854	seqdb_ref	A
chr22:46762854	snp_fw_seq3	CAG/CGG
chr22:46762854	snp_rv_seq3	CTG/CCG
chr22:46762854	func	intronic
chr22:46762854	transcript	NM_014246
chr22:46762854	genomic	.
chr22:46762854	codon	.
chr22:46762854	protein	.
chr22:46762854	worst	intronic
chr22:46762854	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46762854	nvar	1
chr22:46762854	var	chr22:46762854:A/G
chr22:46762855	allele_ref	G
chr22:46762855	allele_alt	A
chr22:46762855	seqdb_ref	G
chr22:46762855	snp_fw_seq3	AGC/AAC
chr22:46762855	snp_rv_seq3	GCT/GTT
chr22:46762855	func	intronic
chr22:46762855	transcript	NM_014246
chr22:46762855	genomic	.
chr22:46762855	codon	.
chr22:46762855	protein	.
chr22:46762855	worst	intronic
chr22:46762855	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46762855	nvar	1
chr22:46762855	var	chr22:46762855:G/A
chr22:46762863	allele_ref	T
chr22:46762863	allele_alt	A
chr22:46762863	seqdb_ref	T
chr22:46762863	snp_fw_seq3	GTC/GAC
chr22:46762863	snp_rv_seq3	GAC/GTC
chr22:46762863	func	intronic
chr22:46762863	transcript	NM_014246
chr22:46762863	genomic	.
chr22:46762863	codon	.
chr22:46762863	protein	.
chr22:46762863	worst	intronic
chr22:46762863	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46762863	nvar	1
chr22:46762863	var	chr22:46762863:T/A
chr22:46762891	allele_ref	G
chr22:46762891	allele_alt	A
chr22:46762891	seqdb_ref	G
chr22:46762891	snp_fw_seq3	CGT/CAT
chr22:46762891	snp_rv_seq3	ACG/ATG
chr22:46762891	func	splice,missense
chr22:46762891	annot_details	DIST=-1,NMD=0,OFPTV=1,EXIN=29,ISEQ=AGGATG,ESEQ=GCAGTC,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS29+-1C>T
chr22:46762891	transcript	NM_014246,NM_014246
chr22:46762891	genomic	.,g.8204G>A
chr22:46762891	codon	.,c.8204ACG>ATG
chr22:46762891	protein	.,p.2735T>M
chr22:46762891	worst	missense
chr22:46762891	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46762891	nvar	1
chr22:46762891	var	chr22:46762891:G/A
chr22:46762902	allele_ref	G
chr22:46762902	allele_alt	A
chr22:46762902	seqdb_ref	G
chr22:46762902	snp_fw_seq3	TGG/TAG
chr22:46762902	snp_rv_seq3	CCA/CTA
chr22:46762902	func	silent
chr22:46762902	transcript	NM_014246
chr22:46762902	genomic	.
chr22:46762902	codon	.
chr22:46762902	protein	.
chr22:46762902	worst	silent
chr22:46762902	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46762902	nvar	1
chr22:46762902	var	chr22:46762902:G/A
chr22:46762988	allele_ref	C
chr22:46762988	allele_alt	T
chr22:46762988	seqdb_ref	C
chr22:46762988	snp_fw_seq3	ACG/ATG
chr22:46762988	snp_rv_seq3	CGT/CAT
chr22:46762988	func	missense
chr22:46762988	transcript	NM_014246
chr22:46762988	genomic	g.8107C>T
chr22:46762988	codon	c.8107GTG>ATG
chr22:46762988	protein	p.2703V>M
chr22:46762988	worst	missense
chr22:46762988	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46762988	nvar	1
chr22:46762988	var	chr22:46762988:C/T
chr22:46763578	allele_ref	T
chr22:46763578	allele_alt	C
chr22:46763578	seqdb_ref	T
chr22:46763578	snp_fw_seq3	GTC/GCC
chr22:46763578	snp_rv_seq3	GAC/GGC
chr22:46763578	func	intronic
chr22:46763578	transcript	NM_014246
chr22:46763578	genomic	.
chr22:46763578	codon	.
chr22:46763578	protein	.
chr22:46763578	worst	intronic
chr22:46763578	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46763578	nvar	1
chr22:46763578	var	chr22:46763578:T/C
chr22:46763671	allele_ref	A
chr22:46763671	allele_alt	G
chr22:46763671	seqdb_ref	A
chr22:46763671	snp_fw_seq3	CAT/CGT
chr22:46763671	snp_rv_seq3	ATG/ACG
chr22:46763671	func	silent
chr22:46763671	transcript	NM_014246
chr22:46763671	genomic	.
chr22:46763671	codon	.
chr22:46763671	protein	.
chr22:46763671	worst	silent
chr22:46763671	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46763671	nvar	1
chr22:46763671	var	chr22:46763671:A/G
chr22:46763692	allele_ref	C
chr22:46763692	allele_alt	A
chr22:46763692	seqdb_ref	C
chr22:46763692	snp_fw_seq3	GCC/GAC
chr22:46763692	snp_rv_seq3	GGC/GTC
chr22:46763692	func	silent
chr22:46763692	transcript	NM_014246
chr22:46763692	genomic	.
chr22:46763692	codon	.
chr22:46763692	protein	.
chr22:46763692	worst	silent
chr22:46763692	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46763692	nvar	1
chr22:46763692	var	chr22:46763692:C/A
chr22:46763734	allele_ref	T
chr22:46763734	allele_alt	C
chr22:46763734	seqdb_ref	T
chr22:46763734	snp_fw_seq3	ATG/ACG
chr22:46763734	snp_rv_seq3	CAT/CGT
chr22:46763734	func	silent
chr22:46763734	transcript	NM_014246
chr22:46763734	genomic	.
chr22:46763734	codon	.
chr22:46763734	protein	.
chr22:46763734	worst	silent
chr22:46763734	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46763734	nvar	1
chr22:46763734	var	chr22:46763734:T/C
chr22:46765713	allele_ref	G
chr22:46765713	allele_alt	A
chr22:46765713	seqdb_ref	G
chr22:46765713	snp_fw_seq3	CGG/CAG
chr22:46765713	snp_rv_seq3	CCG/CTG
chr22:46765713	func	intronic
chr22:46765713	transcript	NM_014246
chr22:46765713	genomic	.
chr22:46765713	codon	.
chr22:46765713	protein	.
chr22:46765713	worst	intronic
chr22:46765713	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46765713	nvar	1
chr22:46765713	var	chr22:46765713:G/A
chr22:46772988	allele_ref	G
chr22:46772988	allele_alt	T
chr22:46772988	seqdb_ref	G
chr22:46772988	snp_fw_seq3	CGA/CTA
chr22:46772988	snp_rv_seq3	TCG/TAG
chr22:46772988	func	missense
chr22:46772988	transcript	NM_014246
chr22:46772988	genomic	g.7554G>T
chr22:46772988	codon	c.7554TTC>TTA
chr22:46772988	protein	p.2518F>L
chr22:46772988	worst	missense
chr22:46772988	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46772988	nvar	1
chr22:46772988	var	chr22:46772988:G/T
chr22:46773147	allele_ref	G
chr22:46773147	allele_alt	T
chr22:46773147	seqdb_ref	G
chr22:46773147	snp_fw_seq3	GGA/GTA
chr22:46773147	snp_rv_seq3	TCC/TAC
chr22:46773147	func	silent
chr22:46773147	transcript	NM_014246
chr22:46773147	genomic	.
chr22:46773147	codon	.
chr22:46773147	protein	.
chr22:46773147	worst	silent
chr22:46773147	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46773147	nvar	1
chr22:46773147	var	chr22:46773147:G/T
chr22:46774446	allele_ref	C
chr22:46774446	allele_alt	G
chr22:46774446	seqdb_ref	C
chr22:46774446	snp_fw_seq3	GCG/GGG
chr22:46774446	snp_rv_seq3	CGC/CCC
chr22:46774446	func	intronic
chr22:46774446	transcript	NM_014246
chr22:46774446	genomic	.
chr22:46774446	codon	.
chr22:46774446	protein	.
chr22:46774446	worst	intronic
chr22:46774446	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46774446	nvar	1
chr22:46774446	var	chr22:46774446:C/G
chr22:46776861	allele_ref	A
chr22:46776861	allele_alt	G
chr22:46776861	seqdb_ref	A
chr22:46776861	snp_fw_seq3	CAA/CGA
chr22:46776861	snp_rv_seq3	TTG/TCG
chr22:46776861	func	intronic
chr22:46776861	transcript	NM_014246
chr22:46776861	genomic	.
chr22:46776861	codon	.
chr22:46776861	protein	.
chr22:46776861	worst	intronic
chr22:46776861	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46776861	nvar	1
chr22:46776861	var	chr22:46776861:A/G
chr22:46777719	allele_ref	G
chr22:46777719	allele_alt	A
chr22:46777719	seqdb_ref	G
chr22:46777719	snp_fw_seq3	CGT/CAT
chr22:46777719	snp_rv_seq3	ACG/ATG
chr22:46777719	func	intronic
chr22:46777719	transcript	NM_014246
chr22:46777719	genomic	.
chr22:46777719	codon	.
chr22:46777719	protein	.
chr22:46777719	worst	intronic
chr22:46777719	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46777719	nvar	1
chr22:46777719	var	chr22:46777719:G/A
chr22:46780477	allele_ref	G
chr22:46780477	allele_alt	A
chr22:46780477	seqdb_ref	G
chr22:46780477	snp_fw_seq3	AGG/AAG
chr22:46780477	snp_rv_seq3	CCT/CTT
chr22:46780477	func	silent
chr22:46780477	transcript	NM_014246
chr22:46780477	genomic	.
chr22:46780477	codon	.
chr22:46780477	protein	.
chr22:46780477	worst	silent
chr22:46780477	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46780477	nvar	1
chr22:46780477	var	chr22:46780477:G/A
chr22:46780521	allele_ref	T
chr22:46780521	allele_alt	C
chr22:46780521	seqdb_ref	T
chr22:46780521	snp_fw_seq3	GTG/GCG
chr22:46780521	snp_rv_seq3	CAC/CGC
chr22:46780521	func	missense
chr22:46780521	transcript	NM_014246
chr22:46780521	genomic	g.6802T>C
chr22:46780521	codon	c.6802ACC>GCC
chr22:46780521	protein	p.2268T>A
chr22:46780521	worst	missense
chr22:46780521	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46780521	nvar	1
chr22:46780521	var	chr22:46780521:T/C
chr22:46782249	allele_ref	A
chr22:46782249	allele_alt	G
chr22:46782249	seqdb_ref	A
chr22:46782249	snp_fw_seq3	CAC/CGC
chr22:46782249	snp_rv_seq3	GTG/GCG
chr22:46782249	func	intronic
chr22:46782249	transcript	NM_014246
chr22:46782249	genomic	.
chr22:46782249	codon	.
chr22:46782249	protein	.
chr22:46782249	worst	intronic
chr22:46782249	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46782249	nvar	1
chr22:46782249	var	chr22:46782249:A/G
chr22:46785139	allele_ref	C
chr22:46785139	allele_alt	T
chr22:46785139	seqdb_ref	c
chr22:46785139	snp_fw_seq3	ccg/cTg
chr22:46785139	snp_rv_seq3	cgg/cAg
chr22:46785139	func	intronic
chr22:46785139	transcript	NM_014246
chr22:46785139	genomic	.
chr22:46785139	codon	.
chr22:46785139	protein	.
chr22:46785139	worst	intronic
chr22:46785139	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46785139	nvar	1
chr22:46785139	var	chr22:46785139:C/T
chr22:46785169	allele_ref	T
chr22:46785169	allele_alt	C
chr22:46785169	seqdb_ref	T
chr22:46785169	snp_fw_seq3	GTG/GCG
chr22:46785169	snp_rv_seq3	CAC/CGC
chr22:46785169	func	intronic
chr22:46785169	transcript	NM_014246
chr22:46785169	genomic	.
chr22:46785169	codon	.
chr22:46785169	protein	.
chr22:46785169	worst	intronic
chr22:46785169	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46785169	nvar	1
chr22:46785169	var	chr22:46785169:T/C
chr22:46785301	allele_ref	C
chr22:46785301	allele_alt	T
chr22:46785301	seqdb_ref	C
chr22:46785301	snp_fw_seq3	GCG/GTG
chr22:46785301	snp_rv_seq3	CGC/CAC
chr22:46785301	func	silent
chr22:46785301	transcript	NM_014246
chr22:46785301	genomic	.
chr22:46785301	codon	.
chr22:46785301	protein	.
chr22:46785301	worst	silent
chr22:46785301	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46785301	nvar	1
chr22:46785301	var	chr22:46785301:C/T
chr22:46785331	allele_ref	C
chr22:46785331	allele_alt	T
chr22:46785331	seqdb_ref	C
chr22:46785331	snp_fw_seq3	GCG/GTG
chr22:46785331	snp_rv_seq3	CGC/CAC
chr22:46785331	func	silent
chr22:46785331	transcript	NM_014246
chr22:46785331	genomic	.
chr22:46785331	codon	.
chr22:46785331	protein	.
chr22:46785331	worst	silent
chr22:46785331	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46785331	nvar	1
chr22:46785331	var	chr22:46785331:C/T
chr22:46785370	allele_ref	C
chr22:46785370	allele_alt	A
chr22:46785370	seqdb_ref	C
chr22:46785370	snp_fw_seq3	GCG/GAG
chr22:46785370	snp_rv_seq3	CGC/CTC
chr22:46785370	func	silent
chr22:46785370	transcript	NM_014246
chr22:46785370	genomic	.
chr22:46785370	codon	.
chr22:46785370	protein	.
chr22:46785370	worst	silent
chr22:46785370	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46785370	nvar	1
chr22:46785370	var	chr22:46785370:C/A
chr22:46785376	allele_ref	A
chr22:46785376	allele_alt	G
chr22:46785376	seqdb_ref	A
chr22:46785376	snp_fw_seq3	CAT/CGT
chr22:46785376	snp_rv_seq3	ATG/ACG
chr22:46785376	func	silent
chr22:46785376	transcript	NM_014246
chr22:46785376	genomic	.
chr22:46785376	codon	.
chr22:46785376	protein	.
chr22:46785376	worst	silent
chr22:46785376	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46785376	nvar	1
chr22:46785376	var	chr22:46785376:A/G
chr22:46785417	allele_ref	T
chr22:46785417	allele_alt	C
chr22:46785417	seqdb_ref	T
chr22:46785417	snp_fw_seq3	GTG/GCG
chr22:46785417	snp_rv_seq3	CAC/CGC
chr22:46785417	func	intronic
chr22:46785417	transcript	NM_014246
chr22:46785417	genomic	.
chr22:46785417	codon	.
chr22:46785417	protein	.
chr22:46785417	worst	intronic
chr22:46785417	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46785417	nvar	1
chr22:46785417	var	chr22:46785417:T/C
chr22:46786261	allele_ref	T
chr22:46786261	allele_alt	C
chr22:46786261	seqdb_ref	T
chr22:46786261	snp_fw_seq3	CTG/CCG
chr22:46786261	snp_rv_seq3	CAG/CGG
chr22:46786261	func	intronic
chr22:46786261	transcript	NM_014246
chr22:46786261	genomic	.
chr22:46786261	codon	.
chr22:46786261	protein	.
chr22:46786261	worst	intronic
chr22:46786261	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46786261	nvar	1
chr22:46786261	var	chr22:46786261:T/C
chr22:46786275	allele_ref	C
chr22:46786275	allele_alt	T
chr22:46786275	seqdb_ref	C
chr22:46786275	snp_fw_seq3	CCG/CTG
chr22:46786275	snp_rv_seq3	CGG/CAG
chr22:46786275	func	intronic
chr22:46786275	transcript	NM_014246
chr22:46786275	genomic	.
chr22:46786275	codon	.
chr22:46786275	protein	.
chr22:46786275	worst	intronic
chr22:46786275	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46786275	nvar	1
chr22:46786275	var	chr22:46786275:C/T
chr22:46786315	allele_ref	T
chr22:46786315	allele_alt	C
chr22:46786315	seqdb_ref	T
chr22:46786315	snp_fw_seq3	ATG/ACG
chr22:46786315	snp_rv_seq3	CAT/CGT
chr22:46786315	func	missense
chr22:46786315	transcript	NM_014246
chr22:46786315	genomic	g.6319T>C
chr22:46786315	codon	c.6319ATC>GTC
chr22:46786315	protein	p.2107I>V
chr22:46786315	worst	missense
chr22:46786315	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46786315	nvar	1
chr22:46786315	var	chr22:46786315:T/C
chr22:46787544	allele_ref	G
chr22:46787544	allele_alt	A
chr22:46787544	seqdb_ref	G
chr22:46787544	snp_fw_seq3	CGT/CAT
chr22:46787544	snp_rv_seq3	ACG/ATG
chr22:46787544	func	missense
chr22:46787544	transcript	NM_014246
chr22:46787544	genomic	g.6134G>A
chr22:46787544	codon	c.6134ACG>ATG
chr22:46787544	protein	p.2045T>M
chr22:46787544	worst	missense
chr22:46787544	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46787544	nvar	1
chr22:46787544	var	chr22:46787544:G/A
chr22:46787600	allele_ref	G
chr22:46787600	allele_alt	A
chr22:46787600	seqdb_ref	G
chr22:46787600	snp_fw_seq3	CGG/CAG
chr22:46787600	snp_rv_seq3	CCG/CTG
chr22:46787600	func	silent
chr22:46787600	transcript	NM_014246
chr22:46787600	genomic	.
chr22:46787600	codon	.
chr22:46787600	protein	.
chr22:46787600	worst	silent
chr22:46787600	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46787600	nvar	1
chr22:46787600	var	chr22:46787600:G/A
chr22:46787694	allele_ref	A
chr22:46787694	allele_alt	G
chr22:46787694	seqdb_ref	A
chr22:46787694	snp_fw_seq3	TAG/TGG
chr22:46787694	snp_rv_seq3	CTA/CCA
chr22:46787694	func	missense
chr22:46787694	transcript	NM_014246
chr22:46787694	genomic	g.5984A>G
chr22:46787694	codon	c.5984CTA>CCA
chr22:46787694	protein	p.1995L>P
chr22:46787694	worst	missense
chr22:46787694	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46787694	nvar	1
chr22:46787694	var	chr22:46787694:A/G
chr22:46787697	allele_ref	A
chr22:46787697	allele_alt	G
chr22:46787697	seqdb_ref	A
chr22:46787697	snp_fw_seq3	GAG/GGG
chr22:46787697	snp_rv_seq3	CTC/CCC
chr22:46787697	func	missense
chr22:46787697	transcript	NM_014246
chr22:46787697	genomic	g.5981A>G
chr22:46787697	codon	c.5981CTC>CCC
chr22:46787697	protein	p.1994L>P
chr22:46787697	worst	missense
chr22:46787697	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46787697	nvar	1
chr22:46787697	var	chr22:46787697:A/G
chr22:46787753	allele_ref	C
chr22:46787753	allele_alt	T
chr22:46787753	seqdb_ref	C
chr22:46787753	snp_fw_seq3	CCG/CTG
chr22:46787753	snp_rv_seq3	CGG/CAG
chr22:46787753	func	intronic
chr22:46787753	transcript	NM_014246
chr22:46787753	genomic	.
chr22:46787753	codon	.
chr22:46787753	protein	.
chr22:46787753	worst	intronic
chr22:46787753	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46787753	nvar	1
chr22:46787753	var	chr22:46787753:C/T
chr22:46790029	allele_ref	G
chr22:46790029	allele_alt	T
chr22:46790029	seqdb_ref	G
chr22:46790029	snp_fw_seq3	CGG/CTG
chr22:46790029	snp_rv_seq3	CCG/CAG
chr22:46790029	func	intronic
chr22:46790029	transcript	NM_014246
chr22:46790029	genomic	.
chr22:46790029	codon	.
chr22:46790029	protein	.
chr22:46790029	worst	intronic
chr22:46790029	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46790029	nvar	1
chr22:46790029	var	chr22:46790029:G/T
chr22:46792689	allele_ref	C
chr22:46792689	allele_alt	A
chr22:46792689	seqdb_ref	C
chr22:46792689	snp_fw_seq3	ACC/AAC
chr22:46792689	snp_rv_seq3	GGT/GTT
chr22:46792689	func	intronic
chr22:46792689	transcript	NM_014246
chr22:46792689	genomic	.
chr22:46792689	codon	.
chr22:46792689	protein	.
chr22:46792689	worst	intronic
chr22:46792689	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46792689	nvar	1
chr22:46792689	var	chr22:46792689:C/A
chr22:46793592	allele_ref	A
chr22:46793592	allele_alt	G
chr22:46793592	seqdb_ref	A
chr22:46793592	snp_fw_seq3	TAG/TGG
chr22:46793592	snp_rv_seq3	CTA/CCA
chr22:46793592	func	missense
chr22:46793592	transcript	NM_014246
chr22:46793592	genomic	g.5680A>G
chr22:46793592	codon	c.5680TAC>CAC
chr22:46793592	protein	p.1894Y>H
chr22:46793592	worst	missense
chr22:46793592	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46793592	nvar	1
chr22:46793592	var	chr22:46793592:A/G
chr22:46793650	allele_ref	G
chr22:46793650	allele_alt	A
chr22:46793650	seqdb_ref	G
chr22:46793650	snp_fw_seq3	GGT/GAT
chr22:46793650	snp_rv_seq3	ACC/ATC
chr22:46793650	func	silent
chr22:46793650	transcript	NM_014246
chr22:46793650	genomic	.
chr22:46793650	codon	.
chr22:46793650	protein	.
chr22:46793650	worst	silent
chr22:46793650	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46793650	nvar	1
chr22:46793650	var	chr22:46793650:G/A
chr22:46793783	allele_ref	G
chr22:46793783	allele_alt	A
chr22:46793783	seqdb_ref	G
chr22:46793783	snp_fw_seq3	CGG/CAG
chr22:46793783	snp_rv_seq3	CCG/CTG
chr22:46793783	func	intronic
chr22:46793783	transcript	NM_014246
chr22:46793783	genomic	.
chr22:46793783	codon	.
chr22:46793783	protein	.
chr22:46793783	worst	intronic
chr22:46793783	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46793783	nvar	1
chr22:46793783	var	chr22:46793783:G/A
chr22:46795580	allele_ref	T
chr22:46795580	allele_alt	G
chr22:46795580	seqdb_ref	T
chr22:46795580	snp_fw_seq3	GTC/GGC
chr22:46795580	snp_rv_seq3	GAC/GCC
chr22:46795580	func	intronic
chr22:46795580	transcript	NM_014246
chr22:46795580	genomic	.
chr22:46795580	codon	.
chr22:46795580	protein	.
chr22:46795580	worst	intronic
chr22:46795580	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46795580	nvar	1
chr22:46795580	var	chr22:46795580:T/G
chr22:46804862	allele_ref	A
chr22:46804862	allele_alt	C
chr22:46804862	seqdb_ref	A
chr22:46804862	snp_fw_seq3	CAG/CCG
chr22:46804862	snp_rv_seq3	CTG/CGG
chr22:46804862	func	intronic
chr22:46804862	transcript	NM_014246
chr22:46804862	genomic	.
chr22:46804862	codon	.
chr22:46804862	protein	.
chr22:46804862	worst	intronic
chr22:46804862	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46804862	nvar	1
chr22:46804862	var	chr22:46804862:A/C
chr22:46804878	allele_ref	C
chr22:46804878	allele_alt	T
chr22:46804878	seqdb_ref	C
chr22:46804878	snp_fw_seq3	ACG/ATG
chr22:46804878	snp_rv_seq3	CGT/CAT
chr22:46804878	func	intronic
chr22:46804878	transcript	NM_014246
chr22:46804878	genomic	.
chr22:46804878	codon	.
chr22:46804878	protein	.
chr22:46804878	worst	intronic
chr22:46804878	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46804878	nvar	1
chr22:46804878	var	chr22:46804878:C/T
chr22:46805007	allele_ref	G
chr22:46805007	allele_alt	A
chr22:46805007	seqdb_ref	G
chr22:46805007	snp_fw_seq3	GGT/GAT
chr22:46805007	snp_rv_seq3	ACC/ATC
chr22:46805007	func	silent
chr22:46805007	transcript	NM_014246
chr22:46805007	genomic	.
chr22:46805007	codon	.
chr22:46805007	protein	.
chr22:46805007	worst	silent
chr22:46805007	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46805007	nvar	1
chr22:46805007	var	chr22:46805007:G/A
chr22:46805642	allele_ref	G
chr22:46805642	allele_alt	A
chr22:46805642	seqdb_ref	G
chr22:46805642	snp_fw_seq3	CGG/CAG
chr22:46805642	snp_rv_seq3	CCG/CTG
chr22:46805642	func	intronic
chr22:46805642	transcript	NM_014246
chr22:46805642	genomic	.
chr22:46805642	codon	.
chr22:46805642	protein	.
chr22:46805642	worst	intronic
chr22:46805642	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46805642	nvar	1
chr22:46805642	var	chr22:46805642:G/A
chr22:46805643	allele_ref	G
chr22:46805643	allele_alt	A
chr22:46805643	seqdb_ref	G
chr22:46805643	snp_fw_seq3	GGC/GAC
chr22:46805643	snp_rv_seq3	GCC/GTC
chr22:46805643	func	intronic
chr22:46805643	transcript	NM_014246
chr22:46805643	genomic	.
chr22:46805643	codon	.
chr22:46805643	protein	.
chr22:46805643	worst	intronic
chr22:46805643	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46805643	nvar	1
chr22:46805643	var	chr22:46805643:G/A
chr22:46806419	allele_ref	G
chr22:46806419	allele_alt	A
chr22:46806419	seqdb_ref	G
chr22:46806419	snp_fw_seq3	GGA/GAA
chr22:46806419	snp_rv_seq3	TCC/TTC
chr22:46806419	func	silent
chr22:46806419	transcript	NM_014246
chr22:46806419	genomic	.
chr22:46806419	codon	.
chr22:46806419	protein	.
chr22:46806419	worst	silent
chr22:46806419	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46806419	nvar	1
chr22:46806419	var	chr22:46806419:G/A
chr22:46807698	allele_ref	A
chr22:46807698	allele_alt	G
chr22:46807698	seqdb_ref	A
chr22:46807698	snp_fw_seq3	CAC/CGC
chr22:46807698	snp_rv_seq3	GTG/GCG
chr22:46807698	func	intronic
chr22:46807698	transcript	NM_014246
chr22:46807698	genomic	.
chr22:46807698	codon	.
chr22:46807698	protein	.
chr22:46807698	worst	intronic
chr22:46807698	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46807698	nvar	1
chr22:46807698	var	chr22:46807698:A/G
chr22:46829252	allele_ref	G
chr22:46829252	allele_alt	A
chr22:46829252	seqdb_ref	G
chr22:46829252	snp_fw_seq3	CGC/CAC
chr22:46829252	snp_rv_seq3	GCG/GTG
chr22:46829252	func	intronic
chr22:46829252	transcript	NM_014246
chr22:46829252	genomic	.
chr22:46829252	codon	.
chr22:46829252	protein	.
chr22:46829252	worst	intronic
chr22:46829252	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46829252	nvar	1
chr22:46829252	var	chr22:46829252:G/A
chr22:46829329	allele_ref	G
chr22:46829329	allele_alt	A
chr22:46829329	seqdb_ref	G
chr22:46829329	snp_fw_seq3	CGT/CAT
chr22:46829329	snp_rv_seq3	ACG/ATG
chr22:46829329	func	silent
chr22:46829329	transcript	NM_014246
chr22:46829329	genomic	.
chr22:46829329	codon	.
chr22:46829329	protein	.
chr22:46829329	worst	silent
chr22:46829329	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46829329	nvar	1
chr22:46829329	var	chr22:46829329:G/A
chr22:46829377	allele_ref	G
chr22:46829377	allele_alt	A
chr22:46829377	seqdb_ref	G
chr22:46829377	snp_fw_seq3	CGC/CAC
chr22:46829377	snp_rv_seq3	GCG/GTG
chr22:46829377	func	silent,splice
chr22:46829377	annot_details	DIST=-1,NMD=0,OFPTV=1,EXIN=5,ISEQ=GACGTA,ESEQ=AGAGCG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS5+-1C>T
chr22:46829377	transcript	NM_014246,NM_014246
chr22:46829377	genomic	.,.
chr22:46829377	codon	.,.
chr22:46829377	protein	.,.
chr22:46829377	worst	splice
chr22:46829377	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46829377	nvar	1
chr22:46829377	var	chr22:46829377:G/A
chr22:46835037	allele_ref	C
chr22:46835037	allele_alt	T
chr22:46835037	seqdb_ref	C
chr22:46835037	snp_fw_seq3	GCC/GTC
chr22:46835037	snp_rv_seq3	GGC/GAC
chr22:46835037	func	intronic
chr22:46835037	transcript	NM_014246
chr22:46835037	genomic	.
chr22:46835037	codon	.
chr22:46835037	protein	.
chr22:46835037	worst	intronic
chr22:46835037	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46835037	nvar	1
chr22:46835037	var	chr22:46835037:C/T
chr22:46835054	allele_ref	C
chr22:46835054	allele_alt	A
chr22:46835054	seqdb_ref	C
chr22:46835054	snp_fw_seq3	ACC/AAC
chr22:46835054	snp_rv_seq3	GGT/GTT
chr22:46835054	func	intronic
chr22:46835054	transcript	NM_014246
chr22:46835054	genomic	.
chr22:46835054	codon	.
chr22:46835054	protein	.
chr22:46835054	worst	intronic
chr22:46835054	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46835054	nvar	1
chr22:46835054	var	chr22:46835054:C/A
chr22:46835058	allele_ref	C
chr22:46835058	allele_alt	T
chr22:46835058	seqdb_ref	C
chr22:46835058	snp_fw_seq3	CCG/CTG
chr22:46835058	snp_rv_seq3	CGG/CAG
chr22:46835058	func	intronic
chr22:46835058	transcript	NM_014246
chr22:46835058	genomic	.
chr22:46835058	codon	.
chr22:46835058	protein	.
chr22:46835058	worst	intronic
chr22:46835058	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46835058	nvar	1
chr22:46835058	var	chr22:46835058:C/T
chr22:46835115	allele_ref	T
chr22:46835115	allele_alt	C
chr22:46835115	seqdb_ref	T
chr22:46835115	snp_fw_seq3	GTC/GCC
chr22:46835115	snp_rv_seq3	GAC/GGC
chr22:46835115	func	silent
chr22:46835115	transcript	NM_014246
chr22:46835115	genomic	.
chr22:46835115	codon	.
chr22:46835115	protein	.
chr22:46835115	worst	silent
chr22:46835115	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46835115	nvar	1
chr22:46835115	var	chr22:46835115:T/C
chr22:46860034	allele_ref	G
chr22:46860034	allele_alt	A
chr22:46860034	seqdb_ref	G
chr22:46860034	snp_fw_seq3	CGG/CAG
chr22:46860034	snp_rv_seq3	CCG/CTG
chr22:46860034	func	silent
chr22:46860034	transcript	NM_014246
chr22:46860034	genomic	.
chr22:46860034	codon	.
chr22:46860034	protein	.
chr22:46860034	worst	silent
chr22:46860034	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46860034	nvar	1
chr22:46860034	var	chr22:46860034:G/A
chr22:46860049	allele_ref	G
chr22:46860049	allele_alt	A
chr22:46860049	seqdb_ref	G
chr22:46860049	snp_fw_seq3	CGT/CAT
chr22:46860049	snp_rv_seq3	ACG/ATG
chr22:46860049	func	silent
chr22:46860049	transcript	NM_014246
chr22:46860049	genomic	.
chr22:46860049	codon	.
chr22:46860049	protein	.
chr22:46860049	worst	silent
chr22:46860049	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46860049	nvar	1
chr22:46860049	var	chr22:46860049:G/A
chr22:46860063	allele_ref	C
chr22:46860063	allele_alt	T
chr22:46860063	seqdb_ref	C
chr22:46860063	snp_fw_seq3	ACG/ATG
chr22:46860063	snp_rv_seq3	CGT/CAT
chr22:46860063	func	missense
chr22:46860063	transcript	NM_014246
chr22:46860063	genomic	g.3724C>T
chr22:46860063	codon	c.3724GTC>ATC
chr22:46860063	protein	p.1242V>I
chr22:46860063	worst	missense
chr22:46860063	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46860063	nvar	1
chr22:46860063	var	chr22:46860063:C/T
chr22:46860088	allele_ref	G
chr22:46860088	allele_alt	C
chr22:46860088	seqdb_ref	G
chr22:46860088	snp_fw_seq3	CGG/CCG
chr22:46860088	snp_rv_seq3	CCG/CGG
chr22:46860088	func	silent
chr22:46860088	transcript	NM_014246
chr22:46860088	genomic	.
chr22:46860088	codon	.
chr22:46860088	protein	.
chr22:46860088	worst	silent
chr22:46860088	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46860088	nvar	1
chr22:46860088	var	chr22:46860088:G/C
chr22:46860223	allele_ref	C
chr22:46860223	allele_alt	T
chr22:46860223	seqdb_ref	C
chr22:46860223	snp_fw_seq3	CCG/CTG
chr22:46860223	snp_rv_seq3	CGG/CAG
chr22:46860223	func	silent
chr22:46860223	transcript	NM_014246
chr22:46860223	genomic	.
chr22:46860223	codon	.
chr22:46860223	protein	.
chr22:46860223	worst	silent
chr22:46860223	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46860223	nvar	1
chr22:46860223	var	chr22:46860223:C/T
chr22:46929692	allele_ref	A
chr22:46929692	allele_alt	G
chr22:46929692	seqdb_ref	A
chr22:46929692	snp_fw_seq3	CAG/CGG
chr22:46929692	snp_rv_seq3	CTG/CCG
chr22:46929692	func	missense
chr22:46929692	transcript	NM_014246
chr22:46929692	genomic	g.3376A>G
chr22:46929692	codon	c.3376TGC>CGC
chr22:46929692	protein	p.1126C>R
chr22:46929692	worst	missense
chr22:46929692	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46929692	nvar	1
chr22:46929692	var	chr22:46929692:A/G
chr22:46930107	allele_ref	C
chr22:46930107	allele_alt	T
chr22:46930107	seqdb_ref	C
chr22:46930107	snp_fw_seq3	TCA/TTA
chr22:46930107	snp_rv_seq3	TGA/TAA
chr22:46930107	func	silent
chr22:46930107	transcript	NM_014246
chr22:46930107	genomic	.
chr22:46930107	codon	.
chr22:46930107	protein	.
chr22:46930107	worst	silent
chr22:46930107	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46930107	nvar	1
chr22:46930107	var	chr22:46930107:C/T
chr22:46931077	allele_ref	G
chr22:46931077	allele_alt	C
chr22:46931077	seqdb_ref	G
chr22:46931077	snp_fw_seq3	CGA/CCA
chr22:46931077	snp_rv_seq3	TCG/TGG
chr22:46931077	func	missense
chr22:46931077	transcript	NM_014246
chr22:46931077	genomic	g.1991G>C
chr22:46931077	codon	c.1991TCG>TGG
chr22:46931077	protein	p.664S>W
chr22:46931077	worst	missense
chr22:46931077	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46931077	nvar	1
chr22:46931077	var	chr22:46931077:G/C
chr22:46931247	allele_ref	C
chr22:46931247	allele_alt	T
chr22:46931247	seqdb_ref	C
chr22:46931247	snp_fw_seq3	CCG/CTG
chr22:46931247	snp_rv_seq3	CGG/CAG
chr22:46931247	func	silent
chr22:46931247	transcript	NM_014246
chr22:46931247	genomic	.
chr22:46931247	codon	.
chr22:46931247	protein	.
chr22:46931247	worst	silent
chr22:46931247	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46931247	nvar	1
chr22:46931247	var	chr22:46931247:C/T
chr22:46931309	allele_ref	T
chr22:46931309	allele_alt	C
chr22:46931309	seqdb_ref	T
chr22:46931309	snp_fw_seq3	ATG/ACG
chr22:46931309	snp_rv_seq3	CAT/CGT
chr22:46931309	func	missense
chr22:46931309	transcript	NM_014246
chr22:46931309	genomic	g.1759T>C
chr22:46931309	codon	c.1759ATT>GTT
chr22:46931309	protein	p.587I>V
chr22:46931309	worst	missense
chr22:46931309	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46931309	nvar	1
chr22:46931309	var	chr22:46931309:T/C
chr22:46931793	allele_ref	G
chr22:46931793	allele_alt	C
chr22:46931793	seqdb_ref	G
chr22:46931793	snp_fw_seq3	GGA/GCA
chr22:46931793	snp_rv_seq3	TCC/TGC
chr22:46931793	func	silent
chr22:46931793	transcript	NM_014246
chr22:46931793	genomic	.
chr22:46931793	codon	.
chr22:46931793	protein	.
chr22:46931793	worst	silent
chr22:46931793	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46931793	nvar	1
chr22:46931793	var	chr22:46931793:G/C
chr22:46931838	allele_ref	G
chr22:46931838	allele_alt	A
chr22:46931838	seqdb_ref	G
chr22:46931838	snp_fw_seq3	TGC/TAC
chr22:46931838	snp_rv_seq3	GCA/GTA
chr22:46931838	func	silent
chr22:46931838	transcript	NM_014246
chr22:46931838	genomic	.
chr22:46931838	codon	.
chr22:46931838	protein	.
chr22:46931838	worst	silent
chr22:46931838	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46931838	nvar	1
chr22:46931838	var	chr22:46931838:G/A
chr22:46932174	allele_ref	G
chr22:46932174	allele_alt	A
chr22:46932174	seqdb_ref	G
chr22:46932174	snp_fw_seq3	CGA/CAA
chr22:46932174	snp_rv_seq3	TCG/TTG
chr22:46932174	func	silent
chr22:46932174	transcript	NM_014246
chr22:46932174	genomic	.
chr22:46932174	codon	.
chr22:46932174	protein	.
chr22:46932174	worst	silent
chr22:46932174	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:46932174	nvar	1
chr22:46932174	var	chr22:46932174:G/A
chr22:47022814	allele_ref	G
chr22:47022814	allele_alt	T
chr22:47022814	seqdb_ref	G
chr22:47022814	snp_fw_seq3	GGT/GTT
chr22:47022814	snp_rv_seq3	ACC/AAC
chr22:47022814	func	missense
chr22:47022814	transcript	NM_015124
chr22:47022814	genomic	g.118G>T
chr22:47022814	codon	c.118GTA>TTA
chr22:47022814	protein	p.40V>L
chr22:47022814	worst	missense
chr22:47022814	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47022814	nvar	1
chr22:47022814	var	chr22:47022814:G/T
chr22:47022889	allele_ref	G
chr22:47022889	allele_alt	A
chr22:47022889	seqdb_ref	G
chr22:47022889	snp_fw_seq3	GGC/GAC
chr22:47022889	snp_rv_seq3	GCC/GTC
chr22:47022889	func	intronic
chr22:47022889	transcript	NM_015124
chr22:47022889	genomic	.
chr22:47022889	codon	.
chr22:47022889	protein	.
chr22:47022889	worst	intronic
chr22:47022889	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47022889	nvar	1
chr22:47022889	var	chr22:47022889:G/A
chr22:47033693	allele_ref	G
chr22:47033693	allele_alt	A
chr22:47033693	seqdb_ref	G
chr22:47033693	snp_fw_seq3	GGT/GAT
chr22:47033693	snp_rv_seq3	ACC/ATC
chr22:47033693	func	intronic
chr22:47033693	transcript	NM_015124
chr22:47033693	genomic	.
chr22:47033693	codon	.
chr22:47033693	protein	.
chr22:47033693	worst	intronic
chr22:47033693	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47033693	nvar	1
chr22:47033693	var	chr22:47033693:G/A
chr22:47054058	allele_ref	T
chr22:47054058	allele_alt	C
chr22:47054058	seqdb_ref	T
chr22:47054058	snp_fw_seq3	GTC/GCC
chr22:47054058	snp_rv_seq3	GAC/GGC
chr22:47054058	func	intronic
chr22:47054058	transcript	NM_015124
chr22:47054058	genomic	.
chr22:47054058	codon	.
chr22:47054058	protein	.
chr22:47054058	worst	intronic
chr22:47054058	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47054058	nvar	1
chr22:47054058	var	chr22:47054058:T/C
chr22:47058903	allele_ref	T
chr22:47058903	allele_alt	G
chr22:47058903	seqdb_ref	T
chr22:47058903	snp_fw_seq3	CTG/CGG
chr22:47058903	snp_rv_seq3	CAG/CCG
chr22:47058903	func	intronic
chr22:47058903	transcript	NM_015124
chr22:47058903	genomic	.
chr22:47058903	codon	.
chr22:47058903	protein	.
chr22:47058903	worst	intronic
chr22:47058903	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47058903	nvar	1
chr22:47058903	var	chr22:47058903:T/G
chr22:47058992	allele_ref	T
chr22:47058992	allele_alt	C
chr22:47058992	seqdb_ref	T
chr22:47058992	snp_fw_seq3	TTG/TCG
chr22:47058992	snp_rv_seq3	CAA/CGA
chr22:47058992	func	silent
chr22:47058992	transcript	NM_015124
chr22:47058992	genomic	.
chr22:47058992	codon	.
chr22:47058992	protein	.
chr22:47058992	worst	silent
chr22:47058992	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47058992	nvar	1
chr22:47058992	var	chr22:47058992:T/C
chr22:47059939	allele_ref	G
chr22:47059939	allele_alt	A
chr22:47059939	seqdb_ref	G
chr22:47059939	snp_fw_seq3	CGG/CAG
chr22:47059939	snp_rv_seq3	CCG/CTG
chr22:47059939	func	silent
chr22:47059939	transcript	NM_015124
chr22:47059939	genomic	.
chr22:47059939	codon	.
chr22:47059939	protein	.
chr22:47059939	worst	silent
chr22:47059939	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47059939	nvar	1
chr22:47059939	var	chr22:47059939:G/A
chr22:47061641	allele_ref	C
chr22:47061641	allele_alt	T
chr22:47061641	seqdb_ref	C
chr22:47061641	snp_fw_seq3	CCG/CTG
chr22:47061641	snp_rv_seq3	CGG/CAG
chr22:47061641	func	intronic
chr22:47061641	transcript	NM_015124
chr22:47061641	genomic	.
chr22:47061641	codon	.
chr22:47061641	protein	.
chr22:47061641	worst	intronic
chr22:47061641	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47061641	nvar	1
chr22:47061641	var	chr22:47061641:C/T
chr22:47064052	allele_ref	C
chr22:47064052	allele_alt	T
chr22:47064052	seqdb_ref	C
chr22:47064052	snp_fw_seq3	CCC/CTC
chr22:47064052	snp_rv_seq3	GGG/GAG
chr22:47064052	func	silent
chr22:47064052	transcript	NM_015124
chr22:47064052	genomic	.
chr22:47064052	codon	.
chr22:47064052	protein	.
chr22:47064052	worst	silent
chr22:47064052	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47064052	nvar	1
chr22:47064052	var	chr22:47064052:C/T
chr22:47064665	allele_ref	C
chr22:47064665	allele_alt	T
chr22:47064665	seqdb_ref	c
chr22:47064665	snp_fw_seq3	ccg/cTg
chr22:47064665	snp_rv_seq3	cgg/cAg
chr22:47064665	func	intronic
chr22:47064665	transcript	NM_015124
chr22:47064665	genomic	.
chr22:47064665	codon	.
chr22:47064665	protein	.
chr22:47064665	worst	intronic
chr22:47064665	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47064665	nvar	1
chr22:47064665	var	chr22:47064665:C/T
chr22:47064837	allele_ref	A
chr22:47064837	allele_alt	C
chr22:47064837	seqdb_ref	A
chr22:47064837	snp_fw_seq3	CAG/CCG
chr22:47064837	snp_rv_seq3	CTG/CGG
chr22:47064837	func	intronic
chr22:47064837	transcript	NM_015124
chr22:47064837	genomic	.
chr22:47064837	codon	.
chr22:47064837	protein	.
chr22:47064837	worst	intronic
chr22:47064837	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47064837	nvar	1
chr22:47064837	var	chr22:47064837:A/C
chr22:47068804	allele_ref	C
chr22:47068804	allele_alt	T
chr22:47068804	seqdb_ref	C
chr22:47068804	snp_fw_seq3	GCG/GTG
chr22:47068804	snp_rv_seq3	CGC/CAC
chr22:47068804	func	silent
chr22:47068804	transcript	NM_015124
chr22:47068804	genomic	.
chr22:47068804	codon	.
chr22:47068804	protein	.
chr22:47068804	worst	silent
chr22:47068804	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47068804	nvar	1
chr22:47068804	var	chr22:47068804:C/T
chr22:47070550	allele_ref	T
chr22:47070550	allele_alt	A
chr22:47070550	seqdb_ref	T
chr22:47070550	snp_fw_seq3	ATT/AAT
chr22:47070550	snp_rv_seq3	AAT/ATT
chr22:47070550	func	intronic,splice
chr22:47070550	annot_details	DIST=-4,NMD=0,OFPTV=0,EXIN=15,ISEQ=CATTAG,ESEQ=TGTGCG,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS15+-4T>A
chr22:47070550	transcript	NM_015124,NM_015124
chr22:47070550	genomic	.,.
chr22:47070550	codon	.,.
chr22:47070550	protein	.,.
chr22:47070550	worst	splice
chr22:47070550	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47070550	nvar	1
chr22:47070550	var	chr22:47070550:T/A
chr22:47071341	allele_ref	C
chr22:47071341	allele_alt	T
chr22:47071341	seqdb_ref	C
chr22:47071341	snp_fw_seq3	ACG/ATG
chr22:47071341	snp_rv_seq3	CGT/CAT
chr22:47071341	func	intronic
chr22:47071341	transcript	NM_015124
chr22:47071341	genomic	.
chr22:47071341	codon	.
chr22:47071341	protein	.
chr22:47071341	worst	intronic
chr22:47071341	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47071341	nvar	1
chr22:47071341	var	chr22:47071341:C/T
chr22:47072477	allele_ref	G
chr22:47072477	allele_alt	A
chr22:47072477	seqdb_ref	G
chr22:47072477	snp_fw_seq3	CGG/CAG
chr22:47072477	snp_rv_seq3	CCG/CTG
chr22:47072477	func	intronic
chr22:47072477	transcript	NM_015124
chr22:47072477	genomic	.
chr22:47072477	codon	.
chr22:47072477	protein	.
chr22:47072477	worst	intronic
chr22:47072477	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47072477	nvar	1
chr22:47072477	var	chr22:47072477:G/A
chr22:47083010	allele_ref	T
chr22:47083010	allele_alt	C
chr22:47083010	seqdb_ref	T
chr22:47083010	snp_fw_seq3	TTG/TCG
chr22:47083010	snp_rv_seq3	CAA/CGA
chr22:47083010	func	3-UTR
chr22:47083010	transcript	NM_022766
chr22:47083010	genomic	.
chr22:47083010	codon	.
chr22:47083010	protein	.
chr22:47083010	worst	UTR3
chr22:47083010	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:47083010	nvar	1
chr22:47083010	var	chr22:47083010:T/C
chr22:47083012	allele_ref	T
chr22:47083012	allele_alt	A
chr22:47083012	seqdb_ref	T
chr22:47083012	snp_fw_seq3	GTG/GAG
chr22:47083012	snp_rv_seq3	CAC/CTC
chr22:47083012	func	3-UTR
chr22:47083012	transcript	NM_022766
chr22:47083012	genomic	.
chr22:47083012	codon	.
chr22:47083012	protein	.
chr22:47083012	worst	UTR3
chr22:47083012	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:47083012	nvar	1
chr22:47083012	var	chr22:47083012:T/A
chr22:47083137	allele_ref	G
chr22:47083137	allele_alt	A
chr22:47083137	seqdb_ref	G
chr22:47083137	snp_fw_seq3	CGT/CAT
chr22:47083137	snp_rv_seq3	ACG/ATG
chr22:47083137	func	intronic
chr22:47083137	transcript	NM_022766
chr22:47083137	genomic	.
chr22:47083137	codon	.
chr22:47083137	protein	.
chr22:47083137	worst	intronic
chr22:47083137	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47083137	nvar	1
chr22:47083137	var	chr22:47083137:G/A
chr22:47085903	allele_ref	A
chr22:47085903	allele_alt	T
chr22:47085903	seqdb_ref	A
chr22:47085903	snp_fw_seq3	CAG/CTG
chr22:47085903	snp_rv_seq3	CTG/CAG
chr22:47085903	func	silent
chr22:47085903	transcript	NM_022766
chr22:47085903	genomic	.
chr22:47085903	codon	.
chr22:47085903	protein	.
chr22:47085903	worst	silent
chr22:47085903	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47085903	nvar	1
chr22:47085903	var	chr22:47085903:A/T
chr22:47085924	allele_ref	G
chr22:47085924	allele_alt	A
chr22:47085924	seqdb_ref	G
chr22:47085924	snp_fw_seq3	CGT/CAT
chr22:47085924	snp_rv_seq3	ACG/ATG
chr22:47085924	func	silent
chr22:47085924	transcript	NM_022766
chr22:47085924	genomic	.
chr22:47085924	codon	.
chr22:47085924	protein	.
chr22:47085924	worst	silent
chr22:47085924	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47085924	nvar	1
chr22:47085924	var	chr22:47085924:G/A
chr22:47086048	allele_ref	G
chr22:47086048	allele_alt	A
chr22:47086048	seqdb_ref	G
chr22:47086048	snp_fw_seq3	CGT/CAT
chr22:47086048	snp_rv_seq3	ACG/ATG
chr22:47086048	func	missense
chr22:47086048	transcript	NM_022766
chr22:47086048	genomic	g.1382G>A
chr22:47086048	codon	c.1382ACG>ATG
chr22:47086048	protein	p.461T>M
chr22:47086048	worst	missense
chr22:47086048	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47086048	nvar	1
chr22:47086048	var	chr22:47086048:G/A
chr22:47087670	allele_ref	G
chr22:47087670	allele_alt	A
chr22:47087670	seqdb_ref	G
chr22:47087670	snp_fw_seq3	CGT/CAT
chr22:47087670	snp_rv_seq3	ACG/ATG
chr22:47087670	func	silent,splice
chr22:47087670	annot_details	DIST=-4,NMD=0,OFPTV=1,EXIN=11,ISEQ=GACTTC,ESEQ=GCAGGA,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS11+-4C>T
chr22:47087670	transcript	NM_022766,NM_022766
chr22:47087670	genomic	.,.
chr22:47087670	codon	.,.
chr22:47087670	protein	.,.
chr22:47087670	worst	splice
chr22:47087670	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47087670	nvar	1
chr22:47087670	var	chr22:47087670:G/A
chr22:47089274	allele_ref	G
chr22:47089274	allele_alt	A
chr22:47089274	seqdb_ref	G
chr22:47089274	snp_fw_seq3	CGC/CAC
chr22:47089274	snp_rv_seq3	GCG/GTG
chr22:47089274	func	intronic
chr22:47089274	transcript	NM_022766
chr22:47089274	genomic	.
chr22:47089274	codon	.
chr22:47089274	protein	.
chr22:47089274	worst	intronic
chr22:47089274	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47089274	nvar	1
chr22:47089274	var	chr22:47089274:G/A
chr22:47091092	allele_ref	A
chr22:47091092	allele_alt	G
chr22:47091092	seqdb_ref	A
chr22:47091092	snp_fw_seq3	AAA/AGA
chr22:47091092	snp_rv_seq3	TTT/TCT
chr22:47091092	func	intronic
chr22:47091092	transcript	NM_022766
chr22:47091092	genomic	.
chr22:47091092	codon	.
chr22:47091092	protein	.
chr22:47091092	worst	intronic
chr22:47091092	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47091092	nvar	1
chr22:47091092	var	chr22:47091092:A/G
chr22:47095172	allele_ref	C
chr22:47095172	allele_alt	G
chr22:47095172	seqdb_ref	C
chr22:47095172	snp_fw_seq3	ACG/AGG
chr22:47095172	snp_rv_seq3	CGT/CCT
chr22:47095172	func	intronic
chr22:47095172	transcript	NM_022766
chr22:47095172	genomic	.
chr22:47095172	codon	.
chr22:47095172	protein	.
chr22:47095172	worst	intronic
chr22:47095172	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47095172	nvar	1
chr22:47095172	var	chr22:47095172:C/G
chr22:47095409	allele_ref	C
chr22:47095409	allele_alt	G
chr22:47095409	seqdb_ref	C
chr22:47095409	snp_fw_seq3	CCG/CGG
chr22:47095409	snp_rv_seq3	CGG/CCG
chr22:47095409	func	intronic
chr22:47095409	transcript	NM_022766
chr22:47095409	genomic	.
chr22:47095409	codon	.
chr22:47095409	protein	.
chr22:47095409	worst	intronic
chr22:47095409	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47095409	nvar	1
chr22:47095409	var	chr22:47095409:C/G
chr22:47097505	allele_ref	C
chr22:47097505	allele_alt	T
chr22:47097505	seqdb_ref	C
chr22:47097505	snp_fw_seq3	CCG/CTG
chr22:47097505	snp_rv_seq3	CGG/CAG
chr22:47097505	func	intronic
chr22:47097505	transcript	NM_022766
chr22:47097505	genomic	.
chr22:47097505	codon	.
chr22:47097505	protein	.
chr22:47097505	worst	intronic
chr22:47097505	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47097505	nvar	1
chr22:47097505	var	chr22:47097505:C/T
chr22:47103823	allele_ref	G
chr22:47103823	allele_alt	A
chr22:47103823	seqdb_ref	G
chr22:47103823	snp_fw_seq3	CGT/CAT
chr22:47103823	snp_rv_seq3	ACG/ATG
chr22:47103823	func	missense
chr22:47103823	transcript	NM_022766
chr22:47103823	genomic	g.632G>A
chr22:47103823	codon	c.632ACG>ATG
chr22:47103823	protein	p.211T>M
chr22:47103823	worst	missense
chr22:47103823	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47103823	nvar	1
chr22:47103823	var	chr22:47103823:G/A
chr22:47108031	allele_ref	C
chr22:47108031	allele_alt	G
chr22:47108031	seqdb_ref	C
chr22:47108031	snp_fw_seq3	ACT/AGT
chr22:47108031	snp_rv_seq3	AGT/ACT
chr22:47108031	func	intronic
chr22:47108031	transcript	NM_022766
chr22:47108031	genomic	.
chr22:47108031	codon	.
chr22:47108031	protein	.
chr22:47108031	worst	intronic
chr22:47108031	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47108031	nvar	1
chr22:47108031	var	chr22:47108031:C/G
chr22:47108199	allele_ref	C
chr22:47108199	allele_alt	A
chr22:47108199	seqdb_ref	C
chr22:47108199	snp_fw_seq3	ACA/AAA
chr22:47108199	snp_rv_seq3	TGT/TTT
chr22:47108199	func	intronic
chr22:47108199	transcript	NM_022766
chr22:47108199	genomic	.
chr22:47108199	codon	.
chr22:47108199	protein	.
chr22:47108199	worst	intronic
chr22:47108199	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47108199	nvar	1
chr22:47108199	var	chr22:47108199:C/A
chr22:47108219	allele_ref	C
chr22:47108219	allele_alt	T
chr22:47108219	seqdb_ref	C
chr22:47108219	snp_fw_seq3	ACG/ATG
chr22:47108219	snp_rv_seq3	CGT/CAT
chr22:47108219	func	intronic
chr22:47108219	transcript	NM_022766
chr22:47108219	genomic	.
chr22:47108219	codon	.
chr22:47108219	protein	.
chr22:47108219	worst	intronic
chr22:47108219	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47108219	nvar	1
chr22:47108219	var	chr22:47108219:C/T
chr22:47116023	allele_ref	G
chr22:47116023	allele_alt	A
chr22:47116023	seqdb_ref	G
chr22:47116023	snp_fw_seq3	AGT/AAT
chr22:47116023	snp_rv_seq3	ACT/ATT
chr22:47116023	func	silent
chr22:47116023	transcript	NM_022766
chr22:47116023	genomic	.
chr22:47116023	codon	.
chr22:47116023	protein	.
chr22:47116023	worst	silent
chr22:47116023	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47116023	nvar	1
chr22:47116023	var	chr22:47116023:G/A
chr22:47116905	allele_ref	G
chr22:47116905	allele_alt	A
chr22:47116905	seqdb_ref	G
chr22:47116905	snp_fw_seq3	AGC/AAC
chr22:47116905	snp_rv_seq3	GCT/GTT
chr22:47116905	func	silent
chr22:47116905	transcript	NM_022766
chr22:47116905	genomic	.
chr22:47116905	codon	.
chr22:47116905	protein	.
chr22:47116905	worst	silent
chr22:47116905	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47116905	nvar	1
chr22:47116905	var	chr22:47116905:G/A
chr22:47188369	allele_ref	G
chr22:47188369	allele_alt	A
chr22:47188369	seqdb_ref	G
chr22:47188369	snp_fw_seq3	TGG/TAG
chr22:47188369	snp_rv_seq3	CCA/CTA
chr22:47188369	func	intronic
chr22:47188369	transcript	NM_014346
chr22:47188369	genomic	.
chr22:47188369	codon	.
chr22:47188369	protein	.
chr22:47188369	worst	intronic
chr22:47188369	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47188369	nvar	1
chr22:47188369	var	chr22:47188369:G/A
chr22:47188499	allele_ref	G
chr22:47188499	allele_alt	A
chr22:47188499	seqdb_ref	G
chr22:47188499	snp_fw_seq3	GGC/GAC
chr22:47188499	snp_rv_seq3	GCC/GTC
chr22:47188499	func	intronic
chr22:47188499	transcript	NM_014346
chr22:47188499	genomic	.
chr22:47188499	codon	.
chr22:47188499	protein	.
chr22:47188499	worst	intronic
chr22:47188499	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47188499	nvar	1
chr22:47188499	var	chr22:47188499:G/A
chr22:47189536	allele_ref	G
chr22:47189536	allele_alt	A
chr22:47189536	seqdb_ref	G
chr22:47189536	snp_fw_seq3	CGG/CAG
chr22:47189536	snp_rv_seq3	CCG/CTG
chr22:47189536	func	silent
chr22:47189536	transcript	NM_014346
chr22:47189536	genomic	.
chr22:47189536	codon	.
chr22:47189536	protein	.
chr22:47189536	worst	silent
chr22:47189536	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47189536	nvar	1
chr22:47189536	var	chr22:47189536:G/A
chr22:47189630	allele_ref	C
chr22:47189630	allele_alt	T
chr22:47189630	seqdb_ref	C
chr22:47189630	snp_fw_seq3	GCC/GTC
chr22:47189630	snp_rv_seq3	GGC/GAC
chr22:47189630	func	missense
chr22:47189630	transcript	NM_014346
chr22:47189630	genomic	g.352C>T
chr22:47189630	codon	c.352CCA>TCA
chr22:47189630	protein	p.118P>S
chr22:47189630	worst	missense
chr22:47189630	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47189630	nvar	1
chr22:47189630	var	chr22:47189630:C/T
chr22:47193295	allele_ref	C
chr22:47193295	allele_alt	T
chr22:47193295	seqdb_ref	C
chr22:47193295	snp_fw_seq3	TCG/TTG
chr22:47193295	snp_rv_seq3	CGA/CAA
chr22:47193295	func	intronic
chr22:47193295	transcript	NM_014346
chr22:47193295	genomic	.
chr22:47193295	codon	.
chr22:47193295	protein	.
chr22:47193295	worst	intronic
chr22:47193295	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47193295	nvar	1
chr22:47193295	var	chr22:47193295:C/T
chr22:47193404	allele_ref	C
chr22:47193404	allele_alt	T
chr22:47193404	seqdb_ref	C
chr22:47193404	snp_fw_seq3	ACG/ATG
chr22:47193404	snp_rv_seq3	CGT/CAT
chr22:47193404	func	missense
chr22:47193404	transcript	NM_014346
chr22:47193404	genomic	g.524C>T
chr22:47193404	codon	c.524ACG>ATG
chr22:47193404	protein	p.175T>M
chr22:47193404	worst	missense
chr22:47193404	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47193404	nvar	1
chr22:47193404	var	chr22:47193404:C/T
chr22:47274638	allele_ref	C
chr22:47274638	allele_alt	T
chr22:47274638	seqdb_ref	C
chr22:47274638	snp_fw_seq3	GCC/GTC
chr22:47274638	snp_rv_seq3	GGC/GAC
chr22:47274638	func	intronic
chr22:47274638	transcript	NM_014346
chr22:47274638	genomic	.
chr22:47274638	codon	.
chr22:47274638	protein	.
chr22:47274638	worst	intronic
chr22:47274638	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47274638	nvar	1
chr22:47274638	var	chr22:47274638:C/T
chr22:47287310	allele_ref	T
chr22:47287310	allele_alt	A
chr22:47287310	seqdb_ref	T
chr22:47287310	snp_fw_seq3	TTT/TAT
chr22:47287310	snp_rv_seq3	AAA/ATA
chr22:47287310	func	intronic
chr22:47287310	transcript	NM_014346
chr22:47287310	genomic	.
chr22:47287310	codon	.
chr22:47287310	protein	.
chr22:47287310	worst	intronic
chr22:47287310	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47287310	nvar	1
chr22:47287310	var	chr22:47287310:T/A
chr22:47287333	allele_ref	T
chr22:47287333	allele_alt	C
chr22:47287333	seqdb_ref	T
chr22:47287333	snp_fw_seq3	TTG/TCG
chr22:47287333	snp_rv_seq3	CAA/CGA
chr22:47287333	func	intronic
chr22:47287333	transcript	NM_014346
chr22:47287333	genomic	.
chr22:47287333	codon	.
chr22:47287333	protein	.
chr22:47287333	worst	intronic
chr22:47287333	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47287333	nvar	1
chr22:47287333	var	chr22:47287333:T/C
chr22:47307934	allele_ref	A
chr22:47307934	allele_alt	T
chr22:47307934	seqdb_ref	A
chr22:47307934	snp_fw_seq3	TAC/TTC
chr22:47307934	snp_rv_seq3	GTA/GAA
chr22:47307934	func	intronic
chr22:47307934	transcript	NM_014346
chr22:47307934	genomic	.
chr22:47307934	codon	.
chr22:47307934	protein	.
chr22:47307934	worst	intronic
chr22:47307934	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47307934	nvar	1
chr22:47307934	var	chr22:47307934:A/T
chr22:47370343	allele_ref	G
chr22:47370343	allele_alt	A
chr22:47370343	seqdb_ref	G
chr22:47370343	snp_fw_seq3	CGG/CAG
chr22:47370343	snp_rv_seq3	CCG/CTG
chr22:47370343	func	intronic
chr22:47370343	transcript	NM_014346
chr22:47370343	genomic	.
chr22:47370343	codon	.
chr22:47370343	protein	.
chr22:47370343	worst	intronic
chr22:47370343	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47370343	nvar	1
chr22:47370343	var	chr22:47370343:G/A
chr22:47393493	allele_ref	T
chr22:47393493	allele_alt	C
chr22:47393493	seqdb_ref	T
chr22:47393493	snp_fw_seq3	TTA/TCA
chr22:47393493	snp_rv_seq3	TAA/TGA
chr22:47393493	func	intronic
chr22:47393493	transcript	NM_014346
chr22:47393493	genomic	.
chr22:47393493	codon	.
chr22:47393493	protein	.
chr22:47393493	worst	intronic
chr22:47393493	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47393493	nvar	1
chr22:47393493	var	chr22:47393493:T/C
chr22:47393643	allele_ref	G
chr22:47393643	allele_alt	A
chr22:47393643	seqdb_ref	G
chr22:47393643	snp_fw_seq3	GGG/GAG
chr22:47393643	snp_rv_seq3	CCC/CTC
chr22:47393643	func	intronic
chr22:47393643	transcript	NM_014346
chr22:47393643	genomic	.
chr22:47393643	codon	.
chr22:47393643	protein	.
chr22:47393643	worst	intronic
chr22:47393643	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47393643	nvar	1
chr22:47393643	var	chr22:47393643:G/A
chr22:47507365	allele_ref	G
chr22:47507365	allele_alt	A
chr22:47507365	seqdb_ref	G
chr22:47507365	snp_fw_seq3	CGC/CAC
chr22:47507365	snp_rv_seq3	GCG/GTG
chr22:47507365	func	intronic
chr22:47507365	transcript	NM_014346
chr22:47507365	genomic	.
chr22:47507365	codon	.
chr22:47507365	protein	.
chr22:47507365	worst	intronic
chr22:47507365	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47507365	nvar	1
chr22:47507365	var	chr22:47507365:G/A
chr22:47569097	allele_ref	C
chr22:47569097	allele_alt	T
chr22:47569097	seqdb_ref	C
chr22:47569097	snp_fw_seq3	CCG/CTG
chr22:47569097	snp_rv_seq3	CGG/CAG
chr22:47569097	func	intronic
chr22:47569097	transcript	NM_014346
chr22:47569097	genomic	.
chr22:47569097	codon	.
chr22:47569097	protein	.
chr22:47569097	worst	intronic
chr22:47569097	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:47569097	nvar	1
chr22:47569097	var	chr22:47569097:C/T
chr22:47569308	allele_ref	G
chr22:47569308	allele_alt	C
chr22:47569308	seqdb_ref	G
chr22:47569308	snp_fw_seq3	TGG/TCG
chr22:47569308	snp_rv_seq3	CCA/CGA
chr22:47569308	func	3-UTR
chr22:47569308	transcript	NM_014346
chr22:47569308	genomic	.
chr22:47569308	codon	.
chr22:47569308	protein	.
chr22:47569308	worst	UTR3
chr22:47569308	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:47569308	nvar	1
chr22:47569308	var	chr22:47569308:G/C
chr22:49103499	allele_ref	C
chr22:49103499	allele_alt	T
chr22:49103499	seqdb_ref	C
chr22:49103499	snp_fw_seq3	ACG/ATG
chr22:49103499	snp_rv_seq3	CGT/CAT
chr22:49103499	func	intronic,intronic
chr22:49103499	transcript	NM_001082967,NM_015381
chr22:49103499	genomic	.,.
chr22:49103499	codon	.,.
chr22:49103499	protein	.,.
chr22:49103499	worst	intronic
chr22:49103499	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:49103499	nvar	1
chr22:49103499	var	chr22:49103499:C/T
chr22:49103660	allele_ref	T
chr22:49103660	allele_alt	C
chr22:49103660	seqdb_ref	T
chr22:49103660	snp_fw_seq3	ATG/ACG
chr22:49103660	snp_rv_seq3	CAT/CGT
chr22:49103660	func	intronic,splice,intronic,splice
chr22:49103660	annot_details	DIST=4,NMD=0,OFPTV=1,EXIN=3,ISEQ=GTATGT,ESEQ=ACCACG,SPLICE_TYPE=donor,ALT=C,HGVS=c.IVS3+4T>C,DIST=4,NMD=0,OFPTV=0,EXIN=3,ISEQ=GTATGT,ESEQ=ACCACG,SPLICE_TYPE=donor,ALT=C,HGVS=c.IVS3+4T>C
chr22:49103660	transcript	NM_001082967,NM_001082967,NM_015381,NM_015381
chr22:49103660	genomic	.,.,.,.
chr22:49103660	codon	.,.,.,.
chr22:49103660	protein	.,.,.,.
chr22:49103660	worst	splice
chr22:49103660	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:49103660	nvar	1
chr22:49103660	var	chr22:49103660:T/C
chr22:49103669	allele_ref	C
chr22:49103669	allele_alt	T
chr22:49103669	seqdb_ref	C
chr22:49103669	snp_fw_seq3	TCG/TTG
chr22:49103669	snp_rv_seq3	CGA/CAA
chr22:49103669	func	intronic,intronic
chr22:49103669	transcript	NM_001082967,NM_015381
chr22:49103669	genomic	.,.
chr22:49103669	codon	.,.
chr22:49103669	protein	.,.
chr22:49103669	worst	intronic
chr22:49103669	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:49103669	nvar	1
chr22:49103669	var	chr22:49103669:C/T
chr22:50167902	allele_ref	G
chr22:50167902	allele_alt	A
chr22:50167902	seqdb_ref	G
chr22:50167902	snp_fw_seq3	CGC/CAC
chr22:50167902	snp_rv_seq3	GCG/GTG
chr22:50167902	func	silent
chr22:50167902	transcript	NM_014577
chr22:50167902	genomic	.
chr22:50167902	codon	.
chr22:50167902	protein	.
chr22:50167902	worst	silent
chr22:50167902	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50167902	nvar	1
chr22:50167902	var	chr22:50167902:G/A
chr22:50169205	allele_ref	G
chr22:50169205	allele_alt	A
chr22:50169205	seqdb_ref	G
chr22:50169205	snp_fw_seq3	AGC/AAC
chr22:50169205	snp_rv_seq3	GCT/GTT
chr22:50169205	func	intronic
chr22:50169205	transcript	NM_014577
chr22:50169205	genomic	.
chr22:50169205	codon	.
chr22:50169205	protein	.
chr22:50169205	worst	intronic
chr22:50169205	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50169205	nvar	1
chr22:50169205	var	chr22:50169205:G/A
chr22:50169346	allele_ref	G
chr22:50169346	allele_alt	C
chr22:50169346	seqdb_ref	G
chr22:50169346	snp_fw_seq3	TGA/TCA
chr22:50169346	snp_rv_seq3	TCA/TGA
chr22:50169346	func	silent
chr22:50169346	transcript	NM_014577
chr22:50169346	genomic	.
chr22:50169346	codon	.
chr22:50169346	protein	.
chr22:50169346	worst	silent
chr22:50169346	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50169346	nvar	1
chr22:50169346	var	chr22:50169346:G/C
chr22:50169421	allele_ref	T
chr22:50169421	allele_alt	C
chr22:50169421	seqdb_ref	T
chr22:50169421	snp_fw_seq3	ATT/ACT
chr22:50169421	snp_rv_seq3	AAT/AGT
chr22:50169421	func	intronic
chr22:50169421	transcript	NM_014577
chr22:50169421	genomic	.
chr22:50169421	codon	.
chr22:50169421	protein	.
chr22:50169421	worst	intronic
chr22:50169421	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50169421	nvar	1
chr22:50169421	var	chr22:50169421:T/C
chr22:50169676	allele_ref	G
chr22:50169676	allele_alt	A
chr22:50169676	seqdb_ref	G
chr22:50169676	snp_fw_seq3	GGC/GAC
chr22:50169676	snp_rv_seq3	GCC/GTC
chr22:50169676	func	intronic
chr22:50169676	transcript	NM_014577
chr22:50169676	genomic	.
chr22:50169676	codon	.
chr22:50169676	protein	.
chr22:50169676	worst	intronic
chr22:50169676	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50169676	nvar	1
chr22:50169676	var	chr22:50169676:G/A
chr22:50169682	allele_ref	C
chr22:50169682	allele_alt	G
chr22:50169682	seqdb_ref	C
chr22:50169682	snp_fw_seq3	ACG/AGG
chr22:50169682	snp_rv_seq3	CGT/CCT
chr22:50169682	func	intronic
chr22:50169682	transcript	NM_014577
chr22:50169682	genomic	.
chr22:50169682	codon	.
chr22:50169682	protein	.
chr22:50169682	worst	intronic
chr22:50169682	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50169682	nvar	1
chr22:50169682	var	chr22:50169682:C/G
chr22:50169683	allele_ref	G
chr22:50169683	allele_alt	A
chr22:50169683	seqdb_ref	G
chr22:50169683	snp_fw_seq3	CGA/CAA
chr22:50169683	snp_rv_seq3	TCG/TTG
chr22:50169683	func	intronic
chr22:50169683	transcript	NM_014577
chr22:50169683	genomic	.
chr22:50169683	codon	.
chr22:50169683	protein	.
chr22:50169683	worst	intronic
chr22:50169683	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50169683	nvar	1
chr22:50169683	var	chr22:50169683:G/A
chr22:50169770	allele_ref	G
chr22:50169770	allele_alt	A
chr22:50169770	seqdb_ref	G
chr22:50169770	snp_fw_seq3	CGG/CAG
chr22:50169770	snp_rv_seq3	CCG/CTG
chr22:50169770	func	silent
chr22:50169770	transcript	NM_014577
chr22:50169770	genomic	.
chr22:50169770	codon	.
chr22:50169770	protein	.
chr22:50169770	worst	silent
chr22:50169770	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50169770	nvar	1
chr22:50169770	var	chr22:50169770:G/A
chr22:50171474	allele_ref	C
chr22:50171474	allele_alt	T
chr22:50171474	seqdb_ref	C
chr22:50171474	snp_fw_seq3	GCG/GTG
chr22:50171474	snp_rv_seq3	CGC/CAC
chr22:50171474	func	intronic
chr22:50171474	transcript	NM_014577
chr22:50171474	genomic	.
chr22:50171474	codon	.
chr22:50171474	protein	.
chr22:50171474	worst	intronic
chr22:50171474	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50171474	nvar	1
chr22:50171474	var	chr22:50171474:C/T
chr22:50181023	allele_ref	G
chr22:50181023	allele_alt	A
chr22:50181023	seqdb_ref	G
chr22:50181023	snp_fw_seq3	CGC/CAC
chr22:50181023	snp_rv_seq3	GCG/GTG
chr22:50181023	func	intronic
chr22:50181023	transcript	NM_014577
chr22:50181023	genomic	.
chr22:50181023	codon	.
chr22:50181023	protein	.
chr22:50181023	worst	intronic
chr22:50181023	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50181023	nvar	1
chr22:50181023	var	chr22:50181023:G/A
chr22:50187644	allele_ref	G
chr22:50187644	allele_alt	A
chr22:50187644	seqdb_ref	G
chr22:50187644	snp_fw_seq3	TGA/TAA
chr22:50187644	snp_rv_seq3	TCA/TTA
chr22:50187644	func	intronic
chr22:50187644	transcript	NM_014577
chr22:50187644	genomic	.
chr22:50187644	codon	.
chr22:50187644	protein	.
chr22:50187644	worst	intronic
chr22:50187644	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50187644	nvar	1
chr22:50187644	var	chr22:50187644:G/A
chr22:50187646	allele_ref	C
chr22:50187646	allele_alt	T
chr22:50187646	seqdb_ref	C
chr22:50187646	snp_fw_seq3	ACG/ATG
chr22:50187646	snp_rv_seq3	CGT/CAT
chr22:50187646	func	intronic
chr22:50187646	transcript	NM_014577
chr22:50187646	genomic	.
chr22:50187646	codon	.
chr22:50187646	protein	.
chr22:50187646	worst	intronic
chr22:50187646	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50187646	nvar	1
chr22:50187646	var	chr22:50187646:C/T
chr22:50187793	allele_ref	G
chr22:50187793	allele_alt	A
chr22:50187793	seqdb_ref	G
chr22:50187793	snp_fw_seq3	AGG/AAG
chr22:50187793	snp_rv_seq3	CCT/CTT
chr22:50187793	func	missense
chr22:50187793	transcript	NM_014577
chr22:50187793	genomic	g.2248G>A
chr22:50187793	codon	c.2248CTT>TTT
chr22:50187793	protein	p.750L>F
chr22:50187793	worst	missense
chr22:50187793	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50187793	nvar	1
chr22:50187793	var	chr22:50187793:G/A
chr22:50187853	allele_ref	C
chr22:50187853	allele_alt	T
chr22:50187853	seqdb_ref	C
chr22:50187853	snp_fw_seq3	GCG/GTG
chr22:50187853	snp_rv_seq3	CGC/CAC
chr22:50187853	func	missense
chr22:50187853	transcript	NM_014577
chr22:50187853	genomic	g.2188C>T
chr22:50187853	codon	c.2188GCT>ACT
chr22:50187853	protein	p.730A>T
chr22:50187853	worst	missense
chr22:50187853	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50187853	nvar	1
chr22:50187853	var	chr22:50187853:C/T
chr22:50191438	allele_ref	G
chr22:50191438	allele_alt	A
chr22:50191438	seqdb_ref	G
chr22:50191438	snp_fw_seq3	CGG/CAG
chr22:50191438	snp_rv_seq3	CCG/CTG
chr22:50191438	func	intronic
chr22:50191438	transcript	NM_014577
chr22:50191438	genomic	.
chr22:50191438	codon	.
chr22:50191438	protein	.
chr22:50191438	worst	intronic
chr22:50191438	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50191438	nvar	1
chr22:50191438	var	chr22:50191438:G/A
chr22:50191810	allele_ref	A
chr22:50191810	allele_alt	G
chr22:50191810	seqdb_ref	A
chr22:50191810	snp_fw_seq3	GAT/GGT
chr22:50191810	snp_rv_seq3	ATC/ACC
chr22:50191810	func	intronic
chr22:50191810	transcript	NM_014577
chr22:50191810	genomic	.
chr22:50191810	codon	.
chr22:50191810	protein	.
chr22:50191810	worst	intronic
chr22:50191810	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50191810	nvar	1
chr22:50191810	var	chr22:50191810:A/G
chr22:50192174	allele_ref	C
chr22:50192174	allele_alt	T
chr22:50192174	seqdb_ref	C
chr22:50192174	snp_fw_seq3	GCG/GTG
chr22:50192174	snp_rv_seq3	CGC/CAC
chr22:50192174	func	intronic
chr22:50192174	transcript	NM_014577
chr22:50192174	genomic	.
chr22:50192174	codon	.
chr22:50192174	protein	.
chr22:50192174	worst	intronic
chr22:50192174	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50192174	nvar	1
chr22:50192174	var	chr22:50192174:C/T
chr22:50216739	allele_ref	G
chr22:50216739	allele_alt	A
chr22:50216739	seqdb_ref	G
chr22:50216739	snp_fw_seq3	CGC/CAC
chr22:50216739	snp_rv_seq3	GCG/GTG
chr22:50216739	func	silent
chr22:50216739	transcript	NM_014577
chr22:50216739	genomic	.
chr22:50216739	codon	.
chr22:50216739	protein	.
chr22:50216739	worst	silent
chr22:50216739	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50216739	nvar	1
chr22:50216739	var	chr22:50216739:G/A
chr22:50216754	allele_ref	G
chr22:50216754	allele_alt	A
chr22:50216754	seqdb_ref	G
chr22:50216754	snp_fw_seq3	CGA/CAA
chr22:50216754	snp_rv_seq3	TCG/TTG
chr22:50216754	func	silent
chr22:50216754	transcript	NM_014577
chr22:50216754	genomic	.
chr22:50216754	codon	.
chr22:50216754	protein	.
chr22:50216754	worst	silent
chr22:50216754	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50216754	nvar	1
chr22:50216754	var	chr22:50216754:G/A
chr22:50216799	allele_ref	C
chr22:50216799	allele_alt	T
chr22:50216799	seqdb_ref	C
chr22:50216799	snp_fw_seq3	GCG/GTG
chr22:50216799	snp_rv_seq3	CGC/CAC
chr22:50216799	func	silent
chr22:50216799	transcript	NM_014577
chr22:50216799	genomic	.
chr22:50216799	codon	.
chr22:50216799	protein	.
chr22:50216799	worst	silent
chr22:50216799	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50216799	nvar	1
chr22:50216799	var	chr22:50216799:C/T
chr22:50217387	allele_ref	G
chr22:50217387	allele_alt	A
chr22:50217387	seqdb_ref	G
chr22:50217387	snp_fw_seq3	CGA/CAA
chr22:50217387	snp_rv_seq3	TCG/TTG
chr22:50217387	func	silent
chr22:50217387	transcript	NM_014577
chr22:50217387	genomic	.
chr22:50217387	codon	.
chr22:50217387	protein	.
chr22:50217387	worst	silent
chr22:50217387	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50217387	nvar	1
chr22:50217387	var	chr22:50217387:G/A
chr22:50217633	allele_ref	C
chr22:50217633	allele_alt	T
chr22:50217633	seqdb_ref	C
chr22:50217633	snp_fw_seq3	CCG/CTG
chr22:50217633	snp_rv_seq3	CGG/CAG
chr22:50217633	func	silent
chr22:50217633	transcript	NM_014577
chr22:50217633	genomic	.
chr22:50217633	codon	.
chr22:50217633	protein	.
chr22:50217633	worst	silent
chr22:50217633	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50217633	nvar	1
chr22:50217633	var	chr22:50217633:C/T
chr22:50277523	allele_ref	G
chr22:50277523	allele_alt	T
chr22:50277523	seqdb_ref	G
chr22:50277523	snp_fw_seq3	CGG/CTG
chr22:50277523	snp_rv_seq3	CCG/CAG
chr22:50277523	func	silent
chr22:50277523	transcript	NM_014838
chr22:50277523	genomic	.
chr22:50277523	codon	.
chr22:50277523	protein	.
chr22:50277523	worst	silent
chr22:50277523	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50277523	nvar	1
chr22:50277523	var	chr22:50277523:G/T
chr22:50277835	allele_ref	T
chr22:50277835	allele_alt	C
chr22:50277835	seqdb_ref	T
chr22:50277835	snp_fw_seq3	GTG/GCG
chr22:50277835	snp_rv_seq3	CAC/CGC
chr22:50277835	func	silent
chr22:50277835	transcript	NM_014838
chr22:50277835	genomic	.
chr22:50277835	codon	.
chr22:50277835	protein	.
chr22:50277835	worst	silent
chr22:50277835	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50277835	nvar	1
chr22:50277835	var	chr22:50277835:T/C
chr22:50277883	allele_ref	A
chr22:50277883	allele_alt	G
chr22:50277883	seqdb_ref	A
chr22:50277883	snp_fw_seq3	CAC/CGC
chr22:50277883	snp_rv_seq3	GTG/GCG
chr22:50277883	func	silent
chr22:50277883	transcript	NM_014838
chr22:50277883	genomic	.
chr22:50277883	codon	.
chr22:50277883	protein	.
chr22:50277883	worst	silent
chr22:50277883	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50277883	nvar	1
chr22:50277883	var	chr22:50277883:A/G
chr22:50278438	allele_ref	A
chr22:50278438	allele_alt	G
chr22:50278438	seqdb_ref	A
chr22:50278438	snp_fw_seq3	CAG/CGG
chr22:50278438	snp_rv_seq3	CTG/CCG
chr22:50278438	func	silent
chr22:50278438	transcript	NM_014838
chr22:50278438	genomic	.
chr22:50278438	codon	.
chr22:50278438	protein	.
chr22:50278438	worst	silent
chr22:50278438	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50278438	nvar	1
chr22:50278438	var	chr22:50278438:A/G
chr22:50278568	allele_ref	A
chr22:50278568	allele_alt	G
chr22:50278568	seqdb_ref	A
chr22:50278568	snp_fw_seq3	CAT/CGT
chr22:50278568	snp_rv_seq3	ATG/ACG
chr22:50278568	func	missense
chr22:50278568	transcript	NM_014838
chr22:50278568	genomic	g.1258A>G
chr22:50278568	codon	c.1258ATA>GTA
chr22:50278568	protein	p.420I>V
chr22:50278568	worst	missense
chr22:50278568	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50278568	nvar	1
chr22:50278568	var	chr22:50278568:A/G
chr22:50278588	allele_ref	C
chr22:50278588	allele_alt	T
chr22:50278588	seqdb_ref	C
chr22:50278588	snp_fw_seq3	CCT/CTT
chr22:50278588	snp_rv_seq3	AGG/AAG
chr22:50278588	func	silent
chr22:50278588	transcript	NM_014838
chr22:50278588	genomic	.
chr22:50278588	codon	.
chr22:50278588	protein	.
chr22:50278588	worst	silent
chr22:50278588	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50278588	nvar	1
chr22:50278588	var	chr22:50278588:C/T
chr22:50278642	allele_ref	C
chr22:50278642	allele_alt	T
chr22:50278642	seqdb_ref	C
chr22:50278642	snp_fw_seq3	GCG/GTG
chr22:50278642	snp_rv_seq3	CGC/CAC
chr22:50278642	func	silent
chr22:50278642	transcript	NM_014838
chr22:50278642	genomic	.
chr22:50278642	codon	.
chr22:50278642	protein	.
chr22:50278642	worst	silent
chr22:50278642	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50278642	nvar	1
chr22:50278642	var	chr22:50278642:C/T
chr22:50278810	allele_ref	T
chr22:50278810	allele_alt	C
chr22:50278810	seqdb_ref	T
chr22:50278810	snp_fw_seq3	ATC/ACC
chr22:50278810	snp_rv_seq3	GAT/GGT
chr22:50278810	func	silent
chr22:50278810	transcript	NM_014838
chr22:50278810	genomic	.
chr22:50278810	codon	.
chr22:50278810	protein	.
chr22:50278810	worst	silent
chr22:50278810	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50278810	nvar	1
chr22:50278810	var	chr22:50278810:T/C
chr22:50278879	allele_ref	T
chr22:50278879	allele_alt	C
chr22:50278879	seqdb_ref	T
chr22:50278879	snp_fw_seq3	CTC/CCC
chr22:50278879	snp_rv_seq3	GAG/GGG
chr22:50278879	func	silent
chr22:50278879	transcript	NM_014838
chr22:50278879	genomic	.
chr22:50278879	codon	.
chr22:50278879	protein	.
chr22:50278879	worst	silent
chr22:50278879	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50278879	nvar	1
chr22:50278879	var	chr22:50278879:T/C
chr22:50279086	allele_ref	G
chr22:50279086	allele_alt	A
chr22:50279086	seqdb_ref	G
chr22:50279086	snp_fw_seq3	CGA/CAA
chr22:50279086	snp_rv_seq3	TCG/TTG
chr22:50279086	func	silent
chr22:50279086	transcript	NM_014838
chr22:50279086	genomic	.
chr22:50279086	codon	.
chr22:50279086	protein	.
chr22:50279086	worst	silent
chr22:50279086	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50279086	nvar	1
chr22:50279086	var	chr22:50279086:G/A
chr22:50279184	allele_ref	C
chr22:50279184	allele_alt	T
chr22:50279184	seqdb_ref	C
chr22:50279184	snp_fw_seq3	CCG/CTG
chr22:50279184	snp_rv_seq3	CGG/CAG
chr22:50279184	func	missense
chr22:50279184	transcript	NM_014838
chr22:50279184	genomic	g.1874C>T
chr22:50279184	codon	c.1874CCG>CTG
chr22:50279184	protein	p.625P>L
chr22:50279184	worst	missense
chr22:50279184	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50279184	nvar	1
chr22:50279184	var	chr22:50279184:C/T
chr22:50279740	allele_ref	C
chr22:50279740	allele_alt	T
chr22:50279740	seqdb_ref	C
chr22:50279740	snp_fw_seq3	ACG/ATG
chr22:50279740	snp_rv_seq3	CGT/CAT
chr22:50279740	func	silent
chr22:50279740	transcript	NM_014838
chr22:50279740	genomic	.
chr22:50279740	codon	.
chr22:50279740	protein	.
chr22:50279740	worst	silent
chr22:50279740	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50279740	nvar	1
chr22:50279740	var	chr22:50279740:C/T
chr22:50279782	allele_ref	C
chr22:50279782	allele_alt	T
chr22:50279782	seqdb_ref	C
chr22:50279782	snp_fw_seq3	GCG/GTG
chr22:50279782	snp_rv_seq3	CGC/CAC
chr22:50279782	func	silent
chr22:50279782	transcript	NM_014838
chr22:50279782	genomic	.
chr22:50279782	codon	.
chr22:50279782	protein	.
chr22:50279782	worst	silent
chr22:50279782	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50279782	nvar	1
chr22:50279782	var	chr22:50279782:C/T
chr22:50280136	allele_ref	T
chr22:50280136	allele_alt	C
chr22:50280136	seqdb_ref	T
chr22:50280136	snp_fw_seq3	CTG/CCG
chr22:50280136	snp_rv_seq3	CAG/CGG
chr22:50280136	func	silent
chr22:50280136	transcript	NM_014838
chr22:50280136	genomic	.
chr22:50280136	codon	.
chr22:50280136	protein	.
chr22:50280136	worst	silent
chr22:50280136	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50280136	nvar	1
chr22:50280136	var	chr22:50280136:T/C
chr22:50280655	allele_ref	C
chr22:50280655	allele_alt	T
chr22:50280655	seqdb_ref	C
chr22:50280655	snp_fw_seq3	CCG/CTG
chr22:50280655	snp_rv_seq3	CGG/CAG
chr22:50280655	func	silent
chr22:50280655	transcript	NM_014838
chr22:50280655	genomic	.
chr22:50280655	codon	.
chr22:50280655	protein	.
chr22:50280655	worst	silent
chr22:50280655	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50280655	nvar	1
chr22:50280655	var	chr22:50280655:C/T
chr22:50280733	allele_ref	C
chr22:50280733	allele_alt	T
chr22:50280733	seqdb_ref	C
chr22:50280733	snp_fw_seq3	ACG/ATG
chr22:50280733	snp_rv_seq3	CGT/CAT
chr22:50280733	func	silent
chr22:50280733	transcript	NM_014838
chr22:50280733	genomic	.
chr22:50280733	codon	.
chr22:50280733	protein	.
chr22:50280733	worst	silent
chr22:50280733	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50280733	nvar	1
chr22:50280733	var	chr22:50280733:C/T
chr22:50280759	allele_ref	T
chr22:50280759	allele_alt	C
chr22:50280759	seqdb_ref	T
chr22:50280759	snp_fw_seq3	ATG/ACG
chr22:50280759	snp_rv_seq3	CAT/CGT
chr22:50280759	func	missense
chr22:50280759	transcript	NM_014838
chr22:50280759	genomic	g.3449T>C
chr22:50280759	codon	c.3449ATG>ACG
chr22:50280759	protein	p.1150M>T
chr22:50280759	worst	missense
chr22:50280759	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50280759	nvar	1
chr22:50280759	var	chr22:50280759:T/C
chr22:50280856	allele_ref	C
chr22:50280856	allele_alt	T
chr22:50280856	seqdb_ref	C
chr22:50280856	snp_fw_seq3	GCG/GTG
chr22:50280856	snp_rv_seq3	CGC/CAC
chr22:50280856	func	3-UTR
chr22:50280856	transcript	NM_014838
chr22:50280856	genomic	.
chr22:50280856	codon	.
chr22:50280856	protein	.
chr22:50280856	worst	UTR3
chr22:50280856	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:50280856	nvar	1
chr22:50280856	var	chr22:50280856:C/T
chr22:50280857	allele_ref	G
chr22:50280857	allele_alt	A
chr22:50280857	seqdb_ref	G
chr22:50280857	snp_fw_seq3	CGT/CAT
chr22:50280857	snp_rv_seq3	ACG/ATG
chr22:50280857	func	3-UTR
chr22:50280857	transcript	NM_014838
chr22:50280857	genomic	.
chr22:50280857	codon	.
chr22:50280857	protein	.
chr22:50280857	worst	UTR3
chr22:50280857	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:50280857	nvar	1
chr22:50280857	var	chr22:50280857:G/A
chr22:50297888	allele_ref	T
chr22:50297888	allele_alt	C
chr22:50297888	seqdb_ref	T
chr22:50297888	snp_fw_seq3	ATG/ACG
chr22:50297888	snp_rv_seq3	CAT/CGT
chr22:50297888	func	missense
chr22:50297888	transcript	NM_024105
chr22:50297888	genomic	g.1177T>C
chr22:50297888	codon	c.1177ATT>GTT
chr22:50297888	protein	p.393I>V
chr22:50297888	worst	missense
chr22:50297888	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50297888	nvar	1
chr22:50297888	var	chr22:50297888:T/C
chr22:50297992	allele_ref	G
chr22:50297992	allele_alt	A
chr22:50297992	seqdb_ref	G
chr22:50297992	snp_fw_seq3	GGG/GAG
chr22:50297992	snp_rv_seq3	CCC/CTC
chr22:50297992	func	silent
chr22:50297992	transcript	NM_024105
chr22:50297992	genomic	.
chr22:50297992	codon	.
chr22:50297992	protein	.
chr22:50297992	worst	silent
chr22:50297992	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50297992	nvar	1
chr22:50297992	var	chr22:50297992:G/A
chr22:50301422	allele_ref	G
chr22:50301422	allele_alt	A
chr22:50301422	seqdb_ref	G
chr22:50301422	snp_fw_seq3	TGA/TAA
chr22:50301422	snp_rv_seq3	TCA/TTA
chr22:50301422	func	silent
chr22:50301422	transcript	NM_024105
chr22:50301422	genomic	.
chr22:50301422	codon	.
chr22:50301422	protein	.
chr22:50301422	worst	silent
chr22:50301422	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50301422	nvar	1
chr22:50301422	var	chr22:50301422:G/A
chr22:50301476	allele_ref	T
chr22:50301476	allele_alt	C
chr22:50301476	seqdb_ref	T
chr22:50301476	snp_fw_seq3	GTG/GCG
chr22:50301476	snp_rv_seq3	CAC/CGC
chr22:50301476	func	silent
chr22:50301476	transcript	NM_024105
chr22:50301476	genomic	.
chr22:50301476	codon	.
chr22:50301476	protein	.
chr22:50301476	worst	silent
chr22:50301476	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50301476	nvar	1
chr22:50301476	var	chr22:50301476:T/C
chr22:50302850	allele_ref	A
chr22:50302850	allele_alt	G
chr22:50302850	seqdb_ref	A
chr22:50302850	snp_fw_seq3	CAG/CGG
chr22:50302850	snp_rv_seq3	CTG/CCG
chr22:50302850	func	intronic
chr22:50302850	transcript	NM_024105
chr22:50302850	genomic	.
chr22:50302850	codon	.
chr22:50302850	protein	.
chr22:50302850	worst	intronic
chr22:50302850	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50302850	nvar	1
chr22:50302850	var	chr22:50302850:A/G
chr22:50302962	allele_ref	C
chr22:50302962	allele_alt	T
chr22:50302962	seqdb_ref	C
chr22:50302962	snp_fw_seq3	CCG/CTG
chr22:50302962	snp_rv_seq3	CGG/CAG
chr22:50302962	func	missense
chr22:50302962	transcript	NM_024105
chr22:50302962	genomic	g.698C>T
chr22:50302962	codon	c.698CGG>CAG
chr22:50302962	protein	p.233R>Q
chr22:50302962	worst	missense
chr22:50302962	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50302962	nvar	1
chr22:50302962	var	chr22:50302962:C/T
chr22:50303515	allele_ref	A
chr22:50303515	allele_alt	C
chr22:50303515	seqdb_ref	A
chr22:50303515	snp_fw_seq3	TAG/TCG
chr22:50303515	snp_rv_seq3	CTA/CGA
chr22:50303515	func	intronic
chr22:50303515	transcript	NM_024105
chr22:50303515	genomic	.
chr22:50303515	codon	.
chr22:50303515	protein	.
chr22:50303515	worst	intronic
chr22:50303515	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50303515	nvar	1
chr22:50303515	var	chr22:50303515:A/C
chr22:50303530	allele_ref	T
chr22:50303530	allele_alt	C
chr22:50303530	seqdb_ref	T
chr22:50303530	snp_fw_seq3	GTG/GCG
chr22:50303530	snp_rv_seq3	CAC/CGC
chr22:50303530	func	intronic
chr22:50303530	transcript	NM_024105
chr22:50303530	genomic	.
chr22:50303530	codon	.
chr22:50303530	protein	.
chr22:50303530	worst	intronic
chr22:50303530	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50303530	nvar	1
chr22:50303530	var	chr22:50303530:T/C
chr22:50303533	allele_ref	C
chr22:50303533	allele_alt	G
chr22:50303533	seqdb_ref	C
chr22:50303533	snp_fw_seq3	ACT/AGT
chr22:50303533	snp_rv_seq3	AGT/ACT
chr22:50303533	func	intronic
chr22:50303533	transcript	NM_024105
chr22:50303533	genomic	.
chr22:50303533	codon	.
chr22:50303533	protein	.
chr22:50303533	worst	intronic
chr22:50303533	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50303533	nvar	1
chr22:50303533	var	chr22:50303533:C/G
chr22:50303561	allele_ref	C
chr22:50303561	allele_alt	T
chr22:50303561	seqdb_ref	C
chr22:50303561	snp_fw_seq3	CCG/CTG
chr22:50303561	snp_rv_seq3	CGG/CAG
chr22:50303561	func	silent
chr22:50303561	transcript	NM_024105
chr22:50303561	genomic	.
chr22:50303561	codon	.
chr22:50303561	protein	.
chr22:50303561	worst	silent
chr22:50303561	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50303561	nvar	1
chr22:50303561	var	chr22:50303561:C/T
chr22:50304232	allele_ref	C
chr22:50304232	allele_alt	T
chr22:50304232	seqdb_ref	C
chr22:50304232	snp_fw_seq3	ACG/ATG
chr22:50304232	snp_rv_seq3	CGT/CAT
chr22:50304232	func	missense
chr22:50304232	transcript	NM_024105
chr22:50304232	genomic	g.319C>T
chr22:50304232	codon	c.319GTG>ATG
chr22:50304232	protein	p.107V>M
chr22:50304232	worst	missense
chr22:50304232	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50304232	nvar	1
chr22:50304232	var	chr22:50304232:C/T
chr22:50307315	allele_ref	C
chr22:50307315	allele_alt	T
chr22:50307315	seqdb_ref	C
chr22:50307315	snp_fw_seq3	CCA/CTA
chr22:50307315	snp_rv_seq3	TGG/TAG
chr22:50307315	func	silent
chr22:50307315	transcript	NM_024105
chr22:50307315	genomic	.
chr22:50307315	codon	.
chr22:50307315	protein	.
chr22:50307315	worst	silent
chr22:50307315	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50307315	nvar	1
chr22:50307315	var	chr22:50307315:C/T
chr22:50307366	allele_ref	C
chr22:50307366	allele_alt	G
chr22:50307366	seqdb_ref	C
chr22:50307366	snp_fw_seq3	GCA/GGA
chr22:50307366	snp_rv_seq3	TGC/TCC
chr22:50307366	func	silent
chr22:50307366	transcript	NM_024105
chr22:50307366	genomic	.
chr22:50307366	codon	.
chr22:50307366	protein	.
chr22:50307366	worst	silent
chr22:50307366	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50307366	nvar	1
chr22:50307366	var	chr22:50307366:C/G
chr22:50312869	allele_ref	T
chr22:50312869	allele_alt	C
chr22:50312869	seqdb_ref	T
chr22:50312869	snp_fw_seq3	CTC/CCC
chr22:50312869	snp_rv_seq3	GAG/GGG
chr22:50312869	func	intronic,intronic
chr22:50312869	transcript	NM_001135101,NM_024324
chr22:50312869	genomic	.,.
chr22:50312869	codon	.,.
chr22:50312869	protein	.,.
chr22:50312869	worst	intronic
chr22:50312869	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50312869	nvar	1
chr22:50312869	var	chr22:50312869:T/C
chr22:50312979	allele_ref	C
chr22:50312979	allele_alt	T
chr22:50312979	seqdb_ref	C
chr22:50312979	snp_fw_seq3	CCC/CTC
chr22:50312979	snp_rv_seq3	GGG/GAG
chr22:50312979	func	intronic,intronic
chr22:50312979	transcript	NM_001135101,NM_024324
chr22:50312979	genomic	.,.
chr22:50312979	codon	.,.
chr22:50312979	protein	.,.
chr22:50312979	worst	intronic
chr22:50312979	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50312979	nvar	1
chr22:50312979	var	chr22:50312979:C/T
chr22:50313358	allele_ref	G
chr22:50313358	allele_alt	C
chr22:50313358	seqdb_ref	G
chr22:50313358	snp_fw_seq3	CGG/CCG
chr22:50313358	snp_rv_seq3	CCG/CGG
chr22:50313358	func	intronic,intronic
chr22:50313358	transcript	NM_001135101,NM_024324
chr22:50313358	genomic	.,.
chr22:50313358	codon	.,.
chr22:50313358	protein	.,.
chr22:50313358	worst	intronic
chr22:50313358	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50313358	nvar	1
chr22:50313358	var	chr22:50313358:G/C
chr22:50313359	allele_ref	G
chr22:50313359	allele_alt	A
chr22:50313359	seqdb_ref	G
chr22:50313359	snp_fw_seq3	GGT/GAT
chr22:50313359	snp_rv_seq3	ACC/ATC
chr22:50313359	func	intronic,intronic
chr22:50313359	transcript	NM_001135101,NM_024324
chr22:50313359	genomic	.,.
chr22:50313359	codon	.,.
chr22:50313359	protein	.,.
chr22:50313359	worst	intronic
chr22:50313359	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50313359	nvar	1
chr22:50313359	var	chr22:50313359:G/A
chr22:50313438	allele_ref	T
chr22:50313438	allele_alt	C
chr22:50313438	seqdb_ref	T
chr22:50313438	snp_fw_seq3	ATC/ACC
chr22:50313438	snp_rv_seq3	GAT/GGT
chr22:50313438	func	silent,silent
chr22:50313438	transcript	NM_001135101,NM_024324
chr22:50313438	genomic	.,.
chr22:50313438	codon	.,.
chr22:50313438	protein	.,.
chr22:50313438	worst	silent
chr22:50313438	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50313438	nvar	1
chr22:50313438	var	chr22:50313438:T/C
chr22:50313810	allele_ref	C
chr22:50313810	allele_alt	T
chr22:50313810	seqdb_ref	C
chr22:50313810	snp_fw_seq3	GCG/GTG
chr22:50313810	snp_rv_seq3	CGC/CAC
chr22:50313810	func	silent,silent
chr22:50313810	transcript	NM_001135101,NM_024324
chr22:50313810	genomic	.,.
chr22:50313810	codon	.,.
chr22:50313810	protein	.,.
chr22:50313810	worst	silent
chr22:50313810	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50313810	nvar	1
chr22:50313810	var	chr22:50313810:C/T
chr22:50313846	allele_ref	G
chr22:50313846	allele_alt	A
chr22:50313846	seqdb_ref	G
chr22:50313846	snp_fw_seq3	AGA/AAA
chr22:50313846	snp_rv_seq3	TCT/TTT
chr22:50313846	func	silent,silent
chr22:50313846	transcript	NM_001135101,NM_024324
chr22:50313846	genomic	.,.
chr22:50313846	codon	.,.
chr22:50313846	protein	.,.
chr22:50313846	worst	silent
chr22:50313846	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50313846	nvar	1
chr22:50313846	var	chr22:50313846:G/A
chr22:50315228	allele_ref	T
chr22:50315228	allele_alt	C
chr22:50315228	seqdb_ref	T
chr22:50315228	snp_fw_seq3	CTA/CCA
chr22:50315228	snp_rv_seq3	TAG/TGG
chr22:50315228	func	intronic,splice,intronic,splice
chr22:50315228	annot_details	DIST=-5,NMD=0,OFPTV=1,EXIN=5,ISEQ=CTAAAG,ESEQ=CATGCC,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS5+-5T>C,DIST=-5,NMD=0,OFPTV=1,EXIN=5,ISEQ=CTAAAG,ESEQ=CATGCC,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS5+-5T>C
chr22:50315228	transcript	NM_001135101,NM_001135101,NM_024324,NM_024324
chr22:50315228	genomic	.,.,.,.
chr22:50315228	codon	.,.,.,.
chr22:50315228	protein	.,.,.,.
chr22:50315228	worst	splice
chr22:50315228	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50315228	nvar	1
chr22:50315228	var	chr22:50315228:T/C
chr22:50315303	allele_ref	C
chr22:50315303	allele_alt	T
chr22:50315303	seqdb_ref	C
chr22:50315303	snp_fw_seq3	GCG/GTG
chr22:50315303	snp_rv_seq3	CGC/CAC
chr22:50315303	func	silent,silent
chr22:50315303	transcript	NM_001135101,NM_024324
chr22:50315303	genomic	.,.
chr22:50315303	codon	.,.
chr22:50315303	protein	.,.
chr22:50315303	worst	silent
chr22:50315303	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50315303	nvar	1
chr22:50315303	var	chr22:50315303:C/T
chr22:50315363	allele_ref	C
chr22:50315363	allele_alt	A
chr22:50315363	seqdb_ref	C
chr22:50315363	snp_fw_seq3	ACG/AAG
chr22:50315363	snp_rv_seq3	CGT/CTT
chr22:50315363	func	missense,missense
chr22:50315363	transcript	NM_001135101,NM_024324
chr22:50315363	genomic	g.546C>A,g.546C>A
chr22:50315363	codon	c.546GAC>GAA,c.546GAC>GAA
chr22:50315363	protein	p.182D>E,p.182D>E
chr22:50315363	worst	missense
chr22:50315363	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50315363	nvar	1
chr22:50315363	var	chr22:50315363:C/A
chr22:50315413	allele_ref	C
chr22:50315413	allele_alt	T
chr22:50315413	seqdb_ref	C
chr22:50315413	snp_fw_seq3	ACG/ATG
chr22:50315413	snp_rv_seq3	CGT/CAT
chr22:50315413	func	intronic,splice,intronic,splice
chr22:50315413	annot_details	DIST=4,NMD=0,OFPTV=1,EXIN=5,ISEQ=GTACGG,ESEQ=GCACAG,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS5+4C>T,DIST=4,NMD=0,OFPTV=1,EXIN=5,ISEQ=GTACGG,ESEQ=GCACAG,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS5+4C>T
chr22:50315413	transcript	NM_001135101,NM_001135101,NM_024324,NM_024324
chr22:50315413	genomic	.,.,.,.
chr22:50315413	codon	.,.,.,.
chr22:50315413	protein	.,.,.,.
chr22:50315413	worst	splice
chr22:50315413	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50315413	nvar	1
chr22:50315413	var	chr22:50315413:C/T
chr22:50315924	allele_ref	G
chr22:50315924	allele_alt	T
chr22:50315924	seqdb_ref	G
chr22:50315924	snp_fw_seq3	CGA/CTA
chr22:50315924	snp_rv_seq3	TCG/TAG
chr22:50315924	func	intronic,intronic
chr22:50315924	transcript	NM_001135101,NM_024324
chr22:50315924	genomic	.,.
chr22:50315924	codon	.,.
chr22:50315924	protein	.,.
chr22:50315924	worst	intronic
chr22:50315924	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50315924	nvar	1
chr22:50315924	var	chr22:50315924:G/T
chr22:50315928	allele_ref	C
chr22:50315928	allele_alt	G
chr22:50315928	seqdb_ref	C
chr22:50315928	snp_fw_seq3	TCT/TGT
chr22:50315928	snp_rv_seq3	AGA/ACA
chr22:50315928	func	intronic,intronic
chr22:50315928	transcript	NM_001135101,NM_024324
chr22:50315928	genomic	.,.
chr22:50315928	codon	.,.
chr22:50315928	protein	.,.
chr22:50315928	worst	intronic
chr22:50315928	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50315928	nvar	1
chr22:50315928	var	chr22:50315928:C/G
chr22:50315952	allele_ref	C
chr22:50315952	allele_alt	T
chr22:50315952	seqdb_ref	C
chr22:50315952	snp_fw_seq3	CCG/CTG
chr22:50315952	snp_rv_seq3	CGG/CAG
chr22:50315952	func	silent,intronic
chr22:50315952	transcript	NM_001135101,NM_024324
chr22:50315952	genomic	.,.
chr22:50315952	codon	.,.
chr22:50315952	protein	.,.
chr22:50315952	worst	silent
chr22:50315952	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50315952	nvar	1
chr22:50315952	var	chr22:50315952:C/T
chr22:50315973	allele_ref	G
chr22:50315973	allele_alt	C
chr22:50315973	seqdb_ref	G
chr22:50315973	snp_fw_seq3	CGC/CCC
chr22:50315973	snp_rv_seq3	GCG/GGG
chr22:50315973	func	silent,intronic
chr22:50315973	transcript	NM_001135101,NM_024324
chr22:50315973	genomic	.,.
chr22:50315973	codon	.,.
chr22:50315973	protein	.,.
chr22:50315973	worst	silent
chr22:50315973	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50315973	nvar	1
chr22:50315973	var	chr22:50315973:G/C
chr22:50316007	allele_ref	G
chr22:50316007	allele_alt	A
chr22:50316007	seqdb_ref	G
chr22:50316007	snp_fw_seq3	CGT/CAT
chr22:50316007	snp_rv_seq3	ACG/ATG
chr22:50316007	func	missense,intronic
chr22:50316007	transcript	NM_001135101,NM_024324
chr22:50316007	genomic	g.655G>A,.
chr22:50316007	codon	c.655GTG>ATG,.
chr22:50316007	protein	p.219V>M,.
chr22:50316007	worst	missense
chr22:50316007	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50316007	nvar	1
chr22:50316007	var	chr22:50316007:G/A
chr22:50316015	allele_ref	C
chr22:50316015	allele_alt	T
chr22:50316015	seqdb_ref	C
chr22:50316015	snp_fw_seq3	ACG/ATG
chr22:50316015	snp_rv_seq3	CGT/CAT
chr22:50316015	func	silent,intronic
chr22:50316015	transcript	NM_001135101,NM_024324
chr22:50316015	genomic	.,.
chr22:50316015	codon	.,.
chr22:50316015	protein	.,.
chr22:50316015	worst	silent
chr22:50316015	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50316015	nvar	1
chr22:50316015	var	chr22:50316015:C/T
chr22:50316369	allele_ref	C
chr22:50316369	allele_alt	T
chr22:50316369	seqdb_ref	C
chr22:50316369	snp_fw_seq3	CCG/CTG
chr22:50316369	snp_rv_seq3	CGG/CAG
chr22:50316369	func	intronic,intronic
chr22:50316369	transcript	NM_001135101,NM_024324
chr22:50316369	genomic	.,.
chr22:50316369	codon	.,.
chr22:50316369	protein	.,.
chr22:50316369	worst	intronic
chr22:50316369	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50316369	nvar	1
chr22:50316369	var	chr22:50316369:C/T
chr22:50316374	allele_ref	G
chr22:50316374	allele_alt	A
chr22:50316374	seqdb_ref	G
chr22:50316374	snp_fw_seq3	GGT/GAT
chr22:50316374	snp_rv_seq3	ACC/ATC
chr22:50316374	func	intronic,intronic
chr22:50316374	transcript	NM_001135101,NM_024324
chr22:50316374	genomic	.,.
chr22:50316374	codon	.,.
chr22:50316374	protein	.,.
chr22:50316374	worst	intronic
chr22:50316374	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50316374	nvar	1
chr22:50316374	var	chr22:50316374:G/A
chr22:50316835	allele_ref	T
chr22:50316835	allele_alt	C
chr22:50316835	seqdb_ref	T
chr22:50316835	snp_fw_seq3	CTG/CCG
chr22:50316835	snp_rv_seq3	CAG/CGG
chr22:50316835	func	intronic,intronic
chr22:50316835	transcript	NM_001135101,NM_024324
chr22:50316835	genomic	.,.
chr22:50316835	codon	.,.
chr22:50316835	protein	.,.
chr22:50316835	worst	intronic
chr22:50316835	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50316835	nvar	1
chr22:50316835	var	chr22:50316835:T/C
chr22:50316901	allele_ref	C
chr22:50316901	allele_alt	T
chr22:50316901	seqdb_ref	C
chr22:50316901	snp_fw_seq3	CCG/CTG
chr22:50316901	snp_rv_seq3	CGG/CAG
chr22:50316901	func	silent,silent
chr22:50316901	transcript	NM_001135101,NM_024324
chr22:50316901	genomic	.,.
chr22:50316901	codon	.,.
chr22:50316901	protein	.,.
chr22:50316901	worst	silent
chr22:50316901	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50316901	nvar	1
chr22:50316901	var	chr22:50316901:C/T
chr22:50316906	allele_ref	C
chr22:50316906	allele_alt	T
chr22:50316906	seqdb_ref	C
chr22:50316906	snp_fw_seq3	CCG/CTG
chr22:50316906	snp_rv_seq3	CGG/CAG
chr22:50316906	func	missense,missense
chr22:50316906	transcript	NM_001135101,NM_024324
chr22:50316906	genomic	g.860C>T,g.713C>T
chr22:50316906	codon	c.860CCG>CTG,c.713CCG>CTG
chr22:50316906	protein	p.287P>L,p.238P>L
chr22:50316906	worst	missense
chr22:50316906	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50316906	nvar	1
chr22:50316906	var	chr22:50316906:C/T
chr22:50317004	allele_ref	G
chr22:50317004	allele_alt	A
chr22:50317004	seqdb_ref	G
chr22:50317004	snp_fw_seq3	CGG/CAG
chr22:50317004	snp_rv_seq3	CCG/CTG
chr22:50317004	func	intronic,intronic
chr22:50317004	transcript	NM_001135101,NM_024324
chr22:50317004	genomic	.,.
chr22:50317004	codon	.,.
chr22:50317004	protein	.,.
chr22:50317004	worst	intronic
chr22:50317004	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50317004	nvar	1
chr22:50317004	var	chr22:50317004:G/A
chr22:50317989	allele_ref	C
chr22:50317989	allele_alt	T
chr22:50317989	seqdb_ref	C
chr22:50317989	snp_fw_seq3	ACG/ATG
chr22:50317989	snp_rv_seq3	CGT/CAT
chr22:50317989	func	intronic,intronic
chr22:50317989	transcript	NM_001135101,NM_024324
chr22:50317989	genomic	.,.
chr22:50317989	codon	.,.
chr22:50317989	protein	.,.
chr22:50317989	worst	intronic
chr22:50317989	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50317989	nvar	1
chr22:50317989	var	chr22:50317989:C/T
chr22:50319159	allele_ref	C
chr22:50319159	allele_alt	T
chr22:50319159	seqdb_ref	C
chr22:50319159	snp_fw_seq3	ACG/ATG
chr22:50319159	snp_rv_seq3	CGT/CAT
chr22:50319159	func	silent,silent
chr22:50319159	transcript	NM_001135101,NM_024324
chr22:50319159	genomic	.,.
chr22:50319159	codon	.,.
chr22:50319159	protein	.,.
chr22:50319159	worst	silent
chr22:50319159	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50319159	nvar	1
chr22:50319159	var	chr22:50319159:C/T
chr22:50319223	allele_ref	C
chr22:50319223	allele_alt	T
chr22:50319223	seqdb_ref	C
chr22:50319223	snp_fw_seq3	CCC/CTC
chr22:50319223	snp_rv_seq3	GGG/GAG
chr22:50319223	func	intronic,intronic
chr22:50319223	transcript	NM_001135101,NM_024324
chr22:50319223	genomic	.,.
chr22:50319223	codon	.,.
chr22:50319223	protein	.,.
chr22:50319223	worst	intronic
chr22:50319223	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50319223	nvar	1
chr22:50319223	var	chr22:50319223:C/T
chr22:50320943	allele_ref	C
chr22:50320943	allele_alt	T
chr22:50320943	seqdb_ref	C
chr22:50320943	snp_fw_seq3	GCG/GTG
chr22:50320943	snp_rv_seq3	CGC/CAC
chr22:50320943	func	silent,silent
chr22:50320943	transcript	NM_001135101,NM_024324
chr22:50320943	genomic	.,.
chr22:50320943	codon	.,.
chr22:50320943	protein	.,.
chr22:50320943	worst	silent
chr22:50320943	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50320943	nvar	1
chr22:50320943	var	chr22:50320943:C/T
chr22:50354819	allele_ref	C
chr22:50354819	allele_alt	A
chr22:50354819	seqdb_ref	C
chr22:50354819	snp_fw_seq3	CCG/CAG
chr22:50354819	snp_rv_seq3	CGG/CTG
chr22:50354819	func	silent
chr22:50354819	transcript	NM_001001852
chr22:50354819	genomic	.
chr22:50354819	codon	.
chr22:50354819	protein	.
chr22:50354819	worst	silent
chr22:50354819	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50354819	nvar	1
chr22:50354819	var	chr22:50354819:C/A
chr22:50356302	allele_ref	C
chr22:50356302	allele_alt	T
chr22:50356302	seqdb_ref	C
chr22:50356302	snp_fw_seq3	TCT/TTT
chr22:50356302	snp_rv_seq3	AGA/AAA
chr22:50356302	func	intronic
chr22:50356302	transcript	NM_001001852
chr22:50356302	genomic	.
chr22:50356302	codon	.
chr22:50356302	protein	.
chr22:50356302	worst	intronic
chr22:50356302	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50356302	nvar	1
chr22:50356302	var	chr22:50356302:C/T
chr22:50356386	allele_ref	C
chr22:50356386	allele_alt	T
chr22:50356386	seqdb_ref	C
chr22:50356386	snp_fw_seq3	ACG/ATG
chr22:50356386	snp_rv_seq3	CGT/CAT
chr22:50356386	func	silent
chr22:50356386	transcript	NM_001001852
chr22:50356386	genomic	.
chr22:50356386	codon	.
chr22:50356386	protein	.
chr22:50356386	worst	silent
chr22:50356386	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50356386	nvar	1
chr22:50356386	var	chr22:50356386:C/T
chr22:50356555	allele_ref	T
chr22:50356555	allele_alt	C
chr22:50356555	seqdb_ref	T
chr22:50356555	snp_fw_seq3	CTT/CCT
chr22:50356555	snp_rv_seq3	AAG/AGG
chr22:50356555	func	intronic
chr22:50356555	transcript	NM_001001852
chr22:50356555	genomic	.
chr22:50356555	codon	.
chr22:50356555	protein	.
chr22:50356555	worst	intronic
chr22:50356555	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50356555	nvar	1
chr22:50356555	var	chr22:50356555:T/C
chr22:50356693	allele_ref	T
chr22:50356693	allele_alt	C
chr22:50356693	seqdb_ref	T
chr22:50356693	snp_fw_seq3	GTC/GCC
chr22:50356693	snp_rv_seq3	GAC/GGC
chr22:50356693	func	missense
chr22:50356693	transcript	NM_001001852
chr22:50356693	genomic	g.899T>C
chr22:50356693	codon	c.899GTC>GCC
chr22:50356693	protein	p.300V>A
chr22:50356693	worst	missense
chr22:50356693	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50356693	nvar	1
chr22:50356693	var	chr22:50356693:T/C
chr22:50435480	allele_ref	A
chr22:50435480	allele_alt	G
chr22:50435480	seqdb_ref	A
chr22:50435480	snp_fw_seq3	AAG/AGG
chr22:50435480	snp_rv_seq3	CTT/CCT
chr22:50435480	func	missense
chr22:50435480	transcript	NM_001001694
chr22:50435480	genomic	g.998A>G
chr22:50435480	codon	c.998CTT>CCT
chr22:50435480	protein	p.333L>P
chr22:50435480	worst	missense
chr22:50435480	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50435480	nvar	1
chr22:50435480	var	chr22:50435480:A/G
chr22:50436212	allele_ref	G
chr22:50436212	allele_alt	T
chr22:50436212	seqdb_ref	G
chr22:50436212	snp_fw_seq3	TGT/TTT
chr22:50436212	snp_rv_seq3	ACA/AAA
chr22:50436212	func	intronic
chr22:50436212	transcript	NM_001001694
chr22:50436212	genomic	.
chr22:50436212	codon	.
chr22:50436212	protein	.
chr22:50436212	worst	intronic
chr22:50436212	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50436212	nvar	1
chr22:50436212	var	chr22:50436212:G/T
chr22:50436215	allele_ref	A
chr22:50436215	allele_alt	G
chr22:50436215	seqdb_ref	a
chr22:50436215	snp_fw_seq3	gag/gGg
chr22:50436215	snp_rv_seq3	ctc/cCc
chr22:50436215	func	intronic
chr22:50436215	transcript	NM_001001694
chr22:50436215	genomic	.
chr22:50436215	codon	.
chr22:50436215	protein	.
chr22:50436215	worst	intronic
chr22:50436215	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50436215	nvar	1
chr22:50436215	var	chr22:50436215:A/G
chr22:50437949	allele_ref	C
chr22:50437949	allele_alt	T
chr22:50437949	seqdb_ref	C
chr22:50437949	snp_fw_seq3	GCG/GTG
chr22:50437949	snp_rv_seq3	CGC/CAC
chr22:50437949	func	intronic
chr22:50437949	transcript	NM_001001694
chr22:50437949	genomic	.
chr22:50437949	codon	.
chr22:50437949	protein	.
chr22:50437949	worst	intronic
chr22:50437949	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50437949	nvar	1
chr22:50437949	var	chr22:50437949:C/T
chr22:50437976	allele_ref	G
chr22:50437976	allele_alt	T
chr22:50437976	seqdb_ref	g
chr22:50437976	snp_fw_seq3	ggg/gTg
chr22:50437976	snp_rv_seq3	ccc/cAc
chr22:50437976	func	intronic
chr22:50437976	transcript	NM_001001694
chr22:50437976	genomic	.
chr22:50437976	codon	.
chr22:50437976	protein	.
chr22:50437976	worst	intronic
chr22:50437976	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50437976	nvar	1
chr22:50437976	var	chr22:50437976:G/T
chr22:50439194	allele_ref	C
chr22:50439194	allele_alt	T
chr22:50439194	seqdb_ref	C
chr22:50439194	snp_fw_seq3	CCC/CTC
chr22:50439194	snp_rv_seq3	GGG/GAG
chr22:50439194	func	missense
chr22:50439194	transcript	NM_001001694
chr22:50439194	genomic	g.208C>T
chr22:50439194	codon	c.208GGG>AGG
chr22:50439194	protein	p.70G>R
chr22:50439194	worst	missense
chr22:50439194	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50439194	nvar	1
chr22:50439194	var	chr22:50439194:C/T
chr22:50454825	allele_ref	A
chr22:50454825	allele_alt	G
chr22:50454825	seqdb_ref	A
chr22:50454825	snp_fw_seq3	TAC/TGC
chr22:50454825	snp_rv_seq3	GTA/GCA
chr22:50454825	func	intergenic-region
chr22:50454825	transcript	.
chr22:50454825	genomic	.
chr22:50454825	codon	.
chr22:50454825	protein	.
chr22:50454825	worst	intergenic
chr22:50454825	class	intergenic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=1,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50454825	nvar	1
chr22:50454825	var	chr22:50454825:A/G
chr22:50454855	allele_ref	G
chr22:50454855	allele_alt	T
chr22:50454855	seqdb_ref	G
chr22:50454855	snp_fw_seq3	GGC/GTC
chr22:50454855	snp_rv_seq3	GCC/GAC
chr22:50454855	func	intergenic-region
chr22:50454855	transcript	.
chr22:50454855	genomic	.
chr22:50454855	codon	.
chr22:50454855	protein	.
chr22:50454855	worst	intergenic
chr22:50454855	class	intergenic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=1,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50454855	nvar	1
chr22:50454855	var	chr22:50454855:G/T
chr22:50454859	allele_ref	A
chr22:50454859	allele_alt	T
chr22:50454859	seqdb_ref	A
chr22:50454859	snp_fw_seq3	CAT/CTT
chr22:50454859	snp_rv_seq3	ATG/AAG
chr22:50454859	func	intergenic-region
chr22:50454859	transcript	.
chr22:50454859	genomic	.
chr22:50454859	codon	.
chr22:50454859	protein	.
chr22:50454859	worst	intergenic
chr22:50454859	class	intergenic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=1,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50454859	nvar	1
chr22:50454859	var	chr22:50454859:A/T
chr22:50454962	allele_ref	G
chr22:50454962	allele_alt	C
chr22:50454962	seqdb_ref	G
chr22:50454962	snp_fw_seq3	TGT/TCT
chr22:50454962	snp_rv_seq3	ACA/AGA
chr22:50454962	func	intergenic-region
chr22:50454962	transcript	.
chr22:50454962	genomic	.
chr22:50454962	codon	.
chr22:50454962	protein	.
chr22:50454962	worst	intergenic
chr22:50454962	class	intergenic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=1,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50454962	nvar	1
chr22:50454962	var	chr22:50454962:G/C
chr22:50468907	allele_ref	C
chr22:50468907	allele_alt	T
chr22:50468907	seqdb_ref	C
chr22:50468907	snp_fw_seq3	CCC/CTC
chr22:50468907	snp_rv_seq3	GGG/GAG
chr22:50468907	func	intergenic-region
chr22:50468907	transcript	.
chr22:50468907	genomic	.
chr22:50468907	codon	.
chr22:50468907	protein	.
chr22:50468907	worst	intergenic
chr22:50468907	class	intergenic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=1,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50468907	nvar	1
chr22:50468907	var	chr22:50468907:C/T
chr22:50468933	allele_ref	G
chr22:50468933	allele_alt	T
chr22:50468933	seqdb_ref	G
chr22:50468933	snp_fw_seq3	CGC/CTC
chr22:50468933	snp_rv_seq3	GCG/GAG
chr22:50468933	func	intergenic-region
chr22:50468933	transcript	.
chr22:50468933	genomic	.
chr22:50468933	codon	.
chr22:50468933	protein	.
chr22:50468933	worst	intergenic
chr22:50468933	class	intergenic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=1,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50468933	nvar	1
chr22:50468933	var	chr22:50468933:G/T
chr22:50470196	allele_ref	A
chr22:50470196	allele_alt	G
chr22:50470196	seqdb_ref	A
chr22:50470196	snp_fw_seq3	CAC/CGC
chr22:50470196	snp_rv_seq3	GTG/GCG
chr22:50470196	func	intergenic-region
chr22:50470196	transcript	.
chr22:50470196	genomic	.
chr22:50470196	codon	.
chr22:50470196	protein	.
chr22:50470196	worst	intergenic
chr22:50470196	class	intergenic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=1,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50470196	nvar	1
chr22:50470196	var	chr22:50470196:A/G
chr22:50470516	allele_ref	C
chr22:50470516	allele_alt	T
chr22:50470516	seqdb_ref	C
chr22:50470516	snp_fw_seq3	GCG/GTG
chr22:50470516	snp_rv_seq3	CGC/CAC
chr22:50470516	func	intergenic-region
chr22:50470516	transcript	.
chr22:50470516	genomic	.
chr22:50470516	codon	.
chr22:50470516	protein	.
chr22:50470516	worst	intergenic
chr22:50470516	class	intergenic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=1,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50470516	nvar	1
chr22:50470516	var	chr22:50470516:C/T
chr22:50472743	allele_ref	G
chr22:50472743	allele_alt	T
chr22:50472743	seqdb_ref	G
chr22:50472743	snp_fw_seq3	GGC/GTC
chr22:50472743	snp_rv_seq3	GCC/GAC
chr22:50472743	func	intergenic-region
chr22:50472743	transcript	.
chr22:50472743	genomic	.
chr22:50472743	codon	.
chr22:50472743	protein	.
chr22:50472743	worst	intergenic
chr22:50472743	class	intergenic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=1,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50472743	nvar	1
chr22:50472743	var	chr22:50472743:G/T
chr22:50480002	allele_ref	T
chr22:50480002	allele_alt	C
chr22:50480002	seqdb_ref	T
chr22:50480002	snp_fw_seq3	ATC/ACC
chr22:50480002	snp_rv_seq3	GAT/GGT
chr22:50480002	func	intergenic-region
chr22:50480002	transcript	.
chr22:50480002	genomic	.
chr22:50480002	codon	.
chr22:50480002	protein	.
chr22:50480002	worst	intergenic
chr22:50480002	class	intergenic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=1,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50480002	nvar	1
chr22:50480002	var	chr22:50480002:T/C
chr22:50480108	allele_ref	C
chr22:50480108	allele_alt	T
chr22:50480108	seqdb_ref	C
chr22:50480108	snp_fw_seq3	TCC/TTC
chr22:50480108	snp_rv_seq3	GGA/GAA
chr22:50480108	func	intergenic-region
chr22:50480108	transcript	.
chr22:50480108	genomic	.
chr22:50480108	codon	.
chr22:50480108	protein	.
chr22:50480108	worst	intergenic
chr22:50480108	class	intergenic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=1,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50480108	nvar	1
chr22:50480108	var	chr22:50480108:C/T
chr22:50483850	allele_ref	T
chr22:50483850	allele_alt	C
chr22:50483850	seqdb_ref	T
chr22:50483850	snp_fw_seq3	GTC/GCC
chr22:50483850	snp_rv_seq3	GAC/GGC
chr22:50483850	func	intergenic-region
chr22:50483850	transcript	.
chr22:50483850	genomic	.
chr22:50483850	codon	.
chr22:50483850	protein	.
chr22:50483850	worst	intergenic
chr22:50483850	class	intergenic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=1,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50483850	nvar	1
chr22:50483850	var	chr22:50483850:T/C
chr22:50484329	allele_ref	C
chr22:50484329	allele_alt	T
chr22:50484329	seqdb_ref	C
chr22:50484329	snp_fw_seq3	GCG/GTG
chr22:50484329	snp_rv_seq3	CGC/CAC
chr22:50484329	func	intergenic-region
chr22:50484329	transcript	.
chr22:50484329	genomic	.
chr22:50484329	codon	.
chr22:50484329	protein	.
chr22:50484329	worst	intergenic
chr22:50484329	class	intergenic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=1,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50484329	nvar	1
chr22:50484329	var	chr22:50484329:C/T
chr22:50484345	allele_ref	C
chr22:50484345	allele_alt	T
chr22:50484345	seqdb_ref	C
chr22:50484345	snp_fw_seq3	TCG/TTG
chr22:50484345	snp_rv_seq3	CGA/CAA
chr22:50484345	func	intergenic-region
chr22:50484345	transcript	.
chr22:50484345	genomic	.
chr22:50484345	codon	.
chr22:50484345	protein	.
chr22:50484345	worst	intergenic
chr22:50484345	class	intergenic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=1,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50484345	nvar	1
chr22:50484345	var	chr22:50484345:C/T
chr22:50484405	allele_ref	G
chr22:50484405	allele_alt	A
chr22:50484405	seqdb_ref	G
chr22:50484405	snp_fw_seq3	AGA/AAA
chr22:50484405	snp_rv_seq3	TCT/TTT
chr22:50484405	func	intergenic-region
chr22:50484405	transcript	.
chr22:50484405	genomic	.
chr22:50484405	codon	.
chr22:50484405	protein	.
chr22:50484405	worst	intergenic
chr22:50484405	class	intergenic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=1,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50484405	nvar	1
chr22:50484405	var	chr22:50484405:G/A
chr22:50485571	allele_ref	G
chr22:50485571	allele_alt	A
chr22:50485571	seqdb_ref	G
chr22:50485571	snp_fw_seq3	CGC/CAC
chr22:50485571	snp_rv_seq3	GCG/GTG
chr22:50485571	func	intergenic-region
chr22:50485571	transcript	.
chr22:50485571	genomic	.
chr22:50485571	codon	.
chr22:50485571	protein	.
chr22:50485571	worst	intergenic
chr22:50485571	class	intergenic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=1,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50485571	nvar	1
chr22:50485571	var	chr22:50485571:G/A
chr22:50485701	allele_ref	G
chr22:50485701	allele_alt	C
chr22:50485701	seqdb_ref	G
chr22:50485701	snp_fw_seq3	GGC/GCC
chr22:50485701	snp_rv_seq3	GCC/GGC
chr22:50485701	func	intergenic-region
chr22:50485701	transcript	.
chr22:50485701	genomic	.
chr22:50485701	codon	.
chr22:50485701	protein	.
chr22:50485701	worst	intergenic
chr22:50485701	class	intergenic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=1,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50485701	nvar	1
chr22:50485701	var	chr22:50485701:G/C
chr22:50487661	allele_ref	G
chr22:50487661	allele_alt	A
chr22:50487661	seqdb_ref	G
chr22:50487661	snp_fw_seq3	CGC/CAC
chr22:50487661	snp_rv_seq3	GCG/GTG
chr22:50487661	func	intergenic-region
chr22:50487661	transcript	.
chr22:50487661	genomic	.
chr22:50487661	codon	.
chr22:50487661	protein	.
chr22:50487661	worst	intergenic
chr22:50487661	class	intergenic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=1,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50487661	nvar	1
chr22:50487661	var	chr22:50487661:G/A
chr22:50487683	allele_ref	C
chr22:50487683	allele_alt	T
chr22:50487683	seqdb_ref	C
chr22:50487683	snp_fw_seq3	ACG/ATG
chr22:50487683	snp_rv_seq3	CGT/CAT
chr22:50487683	func	intergenic-region
chr22:50487683	transcript	.
chr22:50487683	genomic	.
chr22:50487683	codon	.
chr22:50487683	protein	.
chr22:50487683	worst	intergenic
chr22:50487683	class	intergenic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=1,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50487683	nvar	1
chr22:50487683	var	chr22:50487683:C/T
chr22:50492970	allele_ref	C
chr22:50492970	allele_alt	T
chr22:50492970	seqdb_ref	c
chr22:50492970	snp_fw_seq3	gcg/gTg
chr22:50492970	snp_rv_seq3	cgc/cAc
chr22:50492970	func	intergenic-region
chr22:50492970	transcript	.
chr22:50492970	genomic	.
chr22:50492970	codon	.
chr22:50492970	protein	.
chr22:50492970	worst	intergenic
chr22:50492970	class	intergenic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=1,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50492970	nvar	1
chr22:50492970	var	chr22:50492970:C/T
chr22:50493008	allele_ref	G
chr22:50493008	allele_alt	A
chr22:50493008	seqdb_ref	g
chr22:50493008	snp_fw_seq3	agg/aAg
chr22:50493008	snp_rv_seq3	cct/cTt
chr22:50493008	func	intergenic-region
chr22:50493008	transcript	.
chr22:50493008	genomic	.
chr22:50493008	codon	.
chr22:50493008	protein	.
chr22:50493008	worst	intergenic
chr22:50493008	class	intergenic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=1,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50493008	nvar	1
chr22:50493008	var	chr22:50493008:G/A
chr22:50493062	allele_ref	T
chr22:50493062	allele_alt	C
chr22:50493062	seqdb_ref	t
chr22:50493062	snp_fw_seq3	ctg/cCg
chr22:50493062	snp_rv_seq3	cag/cGg
chr22:50493062	func	intergenic-region
chr22:50493062	transcript	.
chr22:50493062	genomic	.
chr22:50493062	codon	.
chr22:50493062	protein	.
chr22:50493062	worst	intergenic
chr22:50493062	class	intergenic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=1,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50493062	nvar	1
chr22:50493062	var	chr22:50493062:T/C
chr22:50493074	allele_ref	C
chr22:50493074	allele_alt	A
chr22:50493074	seqdb_ref	c
chr22:50493074	snp_fw_seq3	gca/gAa
chr22:50493074	snp_rv_seq3	tgc/tTc
chr22:50493074	func	intergenic-region
chr22:50493074	transcript	.
chr22:50493074	genomic	.
chr22:50493074	codon	.
chr22:50493074	protein	.
chr22:50493074	worst	intergenic
chr22:50493074	class	intergenic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=1,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50493074	nvar	1
chr22:50493074	var	chr22:50493074:C/A
chr22:50499964	allele_ref	T
chr22:50499964	allele_alt	C
chr22:50499964	seqdb_ref	T
chr22:50499964	snp_fw_seq3	ATG/ACG
chr22:50499964	snp_rv_seq3	CAT/CGT
chr22:50499964	func	3-UTR,3-UTR
chr22:50499964	transcript	NM_015166,NM_139202
chr22:50499964	genomic	.,.
chr22:50499964	codon	.,.
chr22:50499964	protein	.,.
chr22:50499964	worst	UTR3
chr22:50499964	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:50499964	nvar	1
chr22:50499964	var	chr22:50499964:T/C
chr22:50499967	allele_ref	T
chr22:50499967	allele_alt	C
chr22:50499967	seqdb_ref	T
chr22:50499967	snp_fw_seq3	CTT/CCT
chr22:50499967	snp_rv_seq3	AAG/AGG
chr22:50499967	func	3-UTR,3-UTR
chr22:50499967	transcript	NM_015166,NM_139202
chr22:50499967	genomic	.,.
chr22:50499967	codon	.,.
chr22:50499967	protein	.,.
chr22:50499967	worst	UTR3
chr22:50499967	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:50499967	nvar	1
chr22:50499967	var	chr22:50499967:T/C
chr22:50500000	allele_ref	C
chr22:50500000	allele_alt	T
chr22:50500000	seqdb_ref	C
chr22:50500000	snp_fw_seq3	CCG/CTG
chr22:50500000	snp_rv_seq3	CGG/CAG
chr22:50500000	func	3-UTR,3-UTR
chr22:50500000	transcript	NM_015166,NM_139202
chr22:50500000	genomic	.,.
chr22:50500000	codon	.,.
chr22:50500000	protein	.,.
chr22:50500000	worst	UTR3
chr22:50500000	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:50500000	nvar	1
chr22:50500000	var	chr22:50500000:C/T
chr22:50502526	allele_ref	A
chr22:50502526	allele_alt	G
chr22:50502526	seqdb_ref	A
chr22:50502526	snp_fw_seq3	CAC/CGC
chr22:50502526	snp_rv_seq3	GTG/GCG
chr22:50502526	func	silent,silent
chr22:50502526	transcript	NM_015166,NM_139202
chr22:50502526	genomic	.,.
chr22:50502526	codon	.,.
chr22:50502526	protein	.,.
chr22:50502526	worst	silent
chr22:50502526	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50502526	nvar	1
chr22:50502526	var	chr22:50502526:A/G
chr22:50502544	allele_ref	G
chr22:50502544	allele_alt	A
chr22:50502544	seqdb_ref	G
chr22:50502544	snp_fw_seq3	CGC/CAC
chr22:50502544	snp_rv_seq3	GCG/GTG
chr22:50502544	func	silent,silent
chr22:50502544	transcript	NM_015166,NM_139202
chr22:50502544	genomic	.,.
chr22:50502544	codon	.,.
chr22:50502544	protein	.,.
chr22:50502544	worst	silent
chr22:50502544	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50502544	nvar	1
chr22:50502544	var	chr22:50502544:G/A
chr22:50506874	allele_ref	C
chr22:50506874	allele_alt	G
chr22:50506874	seqdb_ref	C
chr22:50506874	snp_fw_seq3	GCG/GGG
chr22:50506874	snp_rv_seq3	CGC/CCC
chr22:50506874	func	silent,silent
chr22:50506874	transcript	NM_015166,NM_139202
chr22:50506874	genomic	.,.
chr22:50506874	codon	.,.
chr22:50506874	protein	.,.
chr22:50506874	worst	silent
chr22:50506874	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50506874	nvar	1
chr22:50506874	var	chr22:50506874:C/G
chr22:50507016	allele_ref	G
chr22:50507016	allele_alt	A
chr22:50507016	seqdb_ref	G
chr22:50507016	snp_fw_seq3	GGC/GAC
chr22:50507016	snp_rv_seq3	GCC/GTC
chr22:50507016	func	intronic,intronic
chr22:50507016	transcript	NM_015166,NM_139202
chr22:50507016	genomic	.,.
chr22:50507016	codon	.,.
chr22:50507016	protein	.,.
chr22:50507016	worst	intronic
chr22:50507016	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50507016	nvar	1
chr22:50507016	var	chr22:50507016:G/A
chr22:50507018	allele_ref	C
chr22:50507018	allele_alt	T
chr22:50507018	seqdb_ref	C
chr22:50507018	snp_fw_seq3	CCG/CTG
chr22:50507018	snp_rv_seq3	CGG/CAG
chr22:50507018	func	intronic,intronic
chr22:50507018	transcript	NM_015166,NM_139202
chr22:50507018	genomic	.,.
chr22:50507018	codon	.,.
chr22:50507018	protein	.,.
chr22:50507018	worst	intronic
chr22:50507018	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50507018	nvar	1
chr22:50507018	var	chr22:50507018:C/T
chr22:50507019	allele_ref	G
chr22:50507019	allele_alt	A
chr22:50507019	seqdb_ref	G
chr22:50507019	snp_fw_seq3	CGG/CAG
chr22:50507019	snp_rv_seq3	CCG/CTG
chr22:50507019	func	intronic,intronic
chr22:50507019	transcript	NM_015166,NM_139202
chr22:50507019	genomic	.,.
chr22:50507019	codon	.,.
chr22:50507019	protein	.,.
chr22:50507019	worst	intronic
chr22:50507019	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50507019	nvar	1
chr22:50507019	var	chr22:50507019:G/A
chr22:50512617	allele_ref	C
chr22:50512617	allele_alt	T
chr22:50512617	seqdb_ref	C
chr22:50512617	snp_fw_seq3	GCG/GTG
chr22:50512617	snp_rv_seq3	CGC/CAC
chr22:50512617	func	intronic,intronic
chr22:50512617	transcript	NM_015166,NM_139202
chr22:50512617	genomic	.,.
chr22:50512617	codon	.,.
chr22:50512617	protein	.,.
chr22:50512617	worst	intronic
chr22:50512617	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50512617	nvar	1
chr22:50512617	var	chr22:50512617:C/T
chr22:50515236	allele_ref	T
chr22:50515236	allele_alt	C
chr22:50515236	seqdb_ref	T
chr22:50515236	snp_fw_seq3	ATG/ACG
chr22:50515236	snp_rv_seq3	CAT/CGT
chr22:50515236	func	intronic,intronic
chr22:50515236	transcript	NM_015166,NM_139202
chr22:50515236	genomic	.,.
chr22:50515236	codon	.,.
chr22:50515236	protein	.,.
chr22:50515236	worst	intronic
chr22:50515236	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50515236	nvar	1
chr22:50515236	var	chr22:50515236:T/C
chr22:50515270	allele_ref	T
chr22:50515270	allele_alt	C
chr22:50515270	seqdb_ref	T
chr22:50515270	snp_fw_seq3	CTG/CCG
chr22:50515270	snp_rv_seq3	CAG/CGG
chr22:50515270	func	silent,splice,silent,splice
chr22:50515270	annot_details	DIST=0,NMD=0,OFPTV=1,EXIN=7,ISEQ=AGAATG,ESEQ=ACTCAT,SPLICE_TYPE=donor,ALT=G,HGVS=c.IVS7+0A>G,DIST=0,NMD=0,OFPTV=1,EXIN=7,ISEQ=AGAATG,ESEQ=ACTCAT,SPLICE_TYPE=donor,ALT=G,HGVS=c.IVS7+0A>G
chr22:50515270	transcript	NM_015166,NM_015166,NM_139202,NM_139202
chr22:50515270	genomic	.,.,.,.
chr22:50515270	codon	.,.,.,.
chr22:50515270	protein	.,.,.,.
chr22:50515270	worst	splice
chr22:50515270	class	mixed,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50515270	nvar	1
chr22:50515270	var	chr22:50515270:T/C
chr22:50515273	allele_ref	G
chr22:50515273	allele_alt	A
chr22:50515273	seqdb_ref	G
chr22:50515273	snp_fw_seq3	AGT/AAT
chr22:50515273	snp_rv_seq3	ACT/ATT
chr22:50515273	func	silent,splice,silent,splice
chr22:50515273	annot_details	DIST=-3,NMD=0,OFPTV=1,EXIN=7,ISEQ=AGAATG,ESEQ=ACTCAT,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS7+-3C>T,DIST=-3,NMD=0,OFPTV=1,EXIN=7,ISEQ=AGAATG,ESEQ=ACTCAT,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS7+-3C>T
chr22:50515273	transcript	NM_015166,NM_015166,NM_139202,NM_139202
chr22:50515273	genomic	.,.,.,.
chr22:50515273	codon	.,.,.,.
chr22:50515273	protein	.,.,.,.
chr22:50515273	worst	splice
chr22:50515273	class	mixed,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50515273	nvar	1
chr22:50515273	var	chr22:50515273:G/A
chr22:50515808	allele_ref	C
chr22:50515808	allele_alt	T
chr22:50515808	seqdb_ref	C
chr22:50515808	snp_fw_seq3	GCG/GTG
chr22:50515808	snp_rv_seq3	CGC/CAC
chr22:50515808	func	intronic,intronic
chr22:50515808	transcript	NM_015166,NM_139202
chr22:50515808	genomic	.,.
chr22:50515808	codon	.,.
chr22:50515808	protein	.,.
chr22:50515808	worst	intronic
chr22:50515808	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50515808	nvar	1
chr22:50515808	var	chr22:50515808:C/T
chr22:50515843	allele_ref	C
chr22:50515843	allele_alt	A
chr22:50515843	seqdb_ref	C
chr22:50515843	snp_fw_seq3	GCA/GAA
chr22:50515843	snp_rv_seq3	TGC/TTC
chr22:50515843	func	missense,missense
chr22:50515843	transcript	NM_015166,NM_139202
chr22:50515843	genomic	g.512C>A,g.512C>A
chr22:50515843	codon	c.512TGC>TTC,c.512TGC>TTC
chr22:50515843	protein	p.171C>F,p.171C>F
chr22:50515843	worst	missense
chr22:50515843	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50515843	nvar	1
chr22:50515843	var	chr22:50515843:C/A
chr22:50518723	allele_ref	A
chr22:50518723	allele_alt	G
chr22:50518723	seqdb_ref	A
chr22:50518723	snp_fw_seq3	CAG/CGG
chr22:50518723	snp_rv_seq3	CTG/CCG
chr22:50518723	func	intronic,intronic
chr22:50518723	transcript	NM_015166,NM_139202
chr22:50518723	genomic	.,.
chr22:50518723	codon	.,.
chr22:50518723	protein	.,.
chr22:50518723	worst	intronic
chr22:50518723	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50518723	nvar	1
chr22:50518723	var	chr22:50518723:A/G
chr22:50530501	allele_ref	A
chr22:50530501	allele_alt	T
chr22:50530501	seqdb_ref	A
chr22:50530501	snp_fw_seq3	TAT/TTT
chr22:50530501	snp_rv_seq3	ATA/AAA
chr22:50530501	func	missense,missense,missense
chr22:50530501	transcript	NM_001164104,NM_001164105,NM_018995
chr22:50530501	genomic	g.169A>T,g.109A>T,g.169A>T
chr22:50530501	codon	c.169ATG>TTG,c.109ATG>TTG,c.169ATG>TTG
chr22:50530501	protein	p.57M>L,p.37M>L,p.57M>L
chr22:50530501	worst	missense
chr22:50530501	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50530501	nvar	1
chr22:50530501	var	chr22:50530501:A/T
chr22:50537901	allele_ref	C
chr22:50537901	allele_alt	T
chr22:50537901	seqdb_ref	C
chr22:50537901	snp_fw_seq3	ACG/ATG
chr22:50537901	snp_rv_seq3	CGT/CAT
chr22:50537901	func	silent,silent,silent
chr22:50537901	transcript	NM_001164104,NM_001164105,NM_018995
chr22:50537901	genomic	.,.,.
chr22:50537901	codon	.,.,.
chr22:50537901	protein	.,.,.
chr22:50537901	worst	silent
chr22:50537901	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50537901	nvar	1
chr22:50537901	var	chr22:50537901:C/T
chr22:50546622	allele_ref	C
chr22:50546622	allele_alt	T
chr22:50546622	seqdb_ref	C
chr22:50546622	snp_fw_seq3	ACG/ATG
chr22:50546622	snp_rv_seq3	CGT/CAT
chr22:50546622	func	missense,missense,missense
chr22:50546622	transcript	NM_001164104,NM_001164105,NM_018995
chr22:50546622	genomic	g.500C>T,g.440C>T,g.500C>T
chr22:50546622	codon	c.500ACG>ATG,c.440ACG>ATG,c.500ACG>ATG
chr22:50546622	protein	p.167T>M,p.147T>M,p.167T>M
chr22:50546622	worst	missense
chr22:50546622	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50546622	nvar	1
chr22:50546622	var	chr22:50546622:C/T
chr22:50546666	allele_ref	C
chr22:50546666	allele_alt	T
chr22:50546666	seqdb_ref	C
chr22:50546666	snp_fw_seq3	GCG/GTG
chr22:50546666	snp_rv_seq3	CGC/CAC
chr22:50546666	func	missense,missense,missense
chr22:50546666	transcript	NM_001164104,NM_001164105,NM_018995
chr22:50546666	genomic	g.544C>T,g.484C>T,g.544C>T
chr22:50546666	codon	c.544CGC>TGC,c.484CGC>TGC,c.544CGC>TGC
chr22:50546666	protein	p.182R>C,p.162R>C,p.182R>C
chr22:50546666	worst	missense
chr22:50546666	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50546666	nvar	1
chr22:50546666	var	chr22:50546666:C/T
chr22:50547247	allele_ref	A
chr22:50547247	allele_alt	G
chr22:50547247	seqdb_ref	A
chr22:50547247	snp_fw_seq3	CAC/CGC
chr22:50547247	snp_rv_seq3	GTG/GCG
chr22:50547247	func	silent,silent,silent
chr22:50547247	transcript	NM_001164104,NM_001164105,NM_018995
chr22:50547247	genomic	.,.,.
chr22:50547247	codon	.,.,.
chr22:50547247	protein	.,.,.
chr22:50547247	worst	silent
chr22:50547247	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50547247	nvar	1
chr22:50547247	var	chr22:50547247:A/G
chr22:50553514	allele_ref	A
chr22:50553514	allele_alt	T
chr22:50553514	seqdb_ref	A
chr22:50553514	snp_fw_seq3	CAA/CTA
chr22:50553514	snp_rv_seq3	TTG/TAG
chr22:50553514	func	intronic,intronic,intronic
chr22:50553514	transcript	NM_001164104,NM_001164105,NM_018995
chr22:50553514	genomic	.,.,.
chr22:50553514	codon	.,.,.
chr22:50553514	protein	.,.,.
chr22:50553514	worst	intronic
chr22:50553514	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50553514	nvar	1
chr22:50553514	var	chr22:50553514:A/T
chr22:50555619	allele_ref	C
chr22:50555619	allele_alt	T
chr22:50555619	seqdb_ref	C
chr22:50555619	snp_fw_seq3	TCT/TTT
chr22:50555619	snp_rv_seq3	AGA/AAA
chr22:50555619	func	silent,silent,silent
chr22:50555619	transcript	NM_001164104,NM_001164105,NM_018995
chr22:50555619	genomic	.,.,.
chr22:50555619	codon	.,.,.
chr22:50555619	protein	.,.,.
chr22:50555619	worst	silent
chr22:50555619	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50555619	nvar	1
chr22:50555619	var	chr22:50555619:C/T
chr22:50555635	allele_ref	C
chr22:50555635	allele_alt	T
chr22:50555635	seqdb_ref	C
chr22:50555635	snp_fw_seq3	CCT/CTT
chr22:50555635	snp_rv_seq3	AGG/AAG
chr22:50555635	func	silent,silent,silent
chr22:50555635	transcript	NM_001164104,NM_001164105,NM_018995
chr22:50555635	genomic	.,.,.
chr22:50555635	codon	.,.,.
chr22:50555635	protein	.,.,.
chr22:50555635	worst	silent
chr22:50555635	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50555635	nvar	1
chr22:50555635	var	chr22:50555635:C/T
chr22:50555644	allele_ref	C
chr22:50555644	allele_alt	T
chr22:50555644	seqdb_ref	C
chr22:50555644	snp_fw_seq3	GCG/GTG
chr22:50555644	snp_rv_seq3	CGC/CAC
chr22:50555644	func	nonsense,nonsense,nonsense
chr22:50555644	annot_details	NMD=1,OFPTV=1,PEPSIZE=1166->440,HGVS=p.R440*,NMD=1,OFPTV=1,PEPSIZE=1166->420,HGVS=p.R420*,NMD=1,OFPTV=1,PEPSIZE=1212->440,HGVS=p.R440*
chr22:50555644	transcript	NM_001164104,NM_001164105,NM_018995
chr22:50555644	genomic	g.1318C>T,g.1258C>T,g.1318C>T
chr22:50555644	codon	c.1318CGA>TGA,c.1258CGA>TGA,c.1318CGA>TGA
chr22:50555644	protein	p.440R>*,p.420R>*,p.440R>*
chr22:50555644	worst	nonsense
chr22:50555644	class	nonsense,NON=3,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50555644	nvar	1
chr22:50555644	var	chr22:50555644:C/T
chr22:50555686	allele_ref	A
chr22:50555686	allele_alt	C
chr22:50555686	seqdb_ref	A
chr22:50555686	snp_fw_seq3	AAT/ACT
chr22:50555686	snp_rv_seq3	ATT/AGT
chr22:50555686	func	missense,missense,missense
chr22:50555686	transcript	NM_001164104,NM_001164105,NM_018995
chr22:50555686	genomic	g.1360A>C,g.1300A>C,g.1360A>C
chr22:50555686	codon	c.1360ATT>CTT,c.1300ATT>CTT,c.1360ATT>CTT
chr22:50555686	protein	p.454I>L,p.434I>L,p.454I>L
chr22:50555686	worst	missense
chr22:50555686	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50555686	nvar	1
chr22:50555686	var	chr22:50555686:A/C
chr22:50555704	allele_ref	T
chr22:50555704	allele_alt	C
chr22:50555704	seqdb_ref	T
chr22:50555704	snp_fw_seq3	ATT/ACT
chr22:50555704	snp_rv_seq3	AAT/AGT
chr22:50555704	func	missense,missense,missense
chr22:50555704	transcript	NM_001164104,NM_001164105,NM_018995
chr22:50555704	genomic	g.1378T>C,g.1318T>C,g.1378T>C
chr22:50555704	codon	c.1378TTT>CTT,c.1318TTT>CTT,c.1378TTT>CTT
chr22:50555704	protein	p.460F>L,p.440F>L,p.460F>L
chr22:50555704	worst	missense
chr22:50555704	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50555704	nvar	1
chr22:50555704	var	chr22:50555704:T/C
chr22:50555825	allele_ref	T
chr22:50555825	allele_alt	A
chr22:50555825	seqdb_ref	T
chr22:50555825	snp_fw_seq3	ATC/AAC
chr22:50555825	snp_rv_seq3	GAT/GTT
chr22:50555825	func	intronic,intronic,intronic
chr22:50555825	transcript	NM_001164104,NM_001164105,NM_018995
chr22:50555825	genomic	.,.,.
chr22:50555825	codon	.,.,.
chr22:50555825	protein	.,.,.
chr22:50555825	worst	intronic
chr22:50555825	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50555825	nvar	1
chr22:50555825	var	chr22:50555825:T/A
chr22:50564583	allele_ref	T
chr22:50564583	allele_alt	A
chr22:50564583	seqdb_ref	T
chr22:50564583	snp_fw_seq3	TTT/TAT
chr22:50564583	snp_rv_seq3	AAA/ATA
chr22:50564583	func	intronic,intronic,intronic
chr22:50564583	transcript	NM_001164104,NM_001164105,NM_018995
chr22:50564583	genomic	.,.,.
chr22:50564583	codon	.,.,.
chr22:50564583	protein	.,.,.
chr22:50564583	worst	intronic
chr22:50564583	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50564583	nvar	1
chr22:50564583	var	chr22:50564583:T/A
chr22:50566835	allele_ref	C
chr22:50566835	allele_alt	T
chr22:50566835	seqdb_ref	C
chr22:50566835	snp_fw_seq3	TCC/TTC
chr22:50566835	snp_rv_seq3	GGA/GAA
chr22:50566835	func	intronic,intronic,intronic
chr22:50566835	transcript	NM_001164104,NM_001164105,NM_018995
chr22:50566835	genomic	.,.,.
chr22:50566835	codon	.,.,.
chr22:50566835	protein	.,.,.
chr22:50566835	worst	intronic
chr22:50566835	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50566835	nvar	1
chr22:50566835	var	chr22:50566835:C/T
chr22:50572406	allele_ref	A
chr22:50572406	allele_alt	G
chr22:50572406	seqdb_ref	A
chr22:50572406	snp_fw_seq3	TAG/TGG
chr22:50572406	snp_rv_seq3	CTA/CCA
chr22:50572406	func	intronic,intronic,intronic
chr22:50572406	transcript	NM_001164104,NM_001164105,NM_018995
chr22:50572406	genomic	.,.,.
chr22:50572406	codon	.,.,.
chr22:50572406	protein	.,.,.
chr22:50572406	worst	intronic
chr22:50572406	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50572406	nvar	1
chr22:50572406	var	chr22:50572406:A/G
chr22:50572473	allele_ref	G
chr22:50572473	allele_alt	A
chr22:50572473	seqdb_ref	G
chr22:50572473	snp_fw_seq3	CGT/CAT
chr22:50572473	snp_rv_seq3	ACG/ATG
chr22:50572473	func	missense,missense,missense
chr22:50572473	transcript	NM_001164104,NM_001164105,NM_018995
chr22:50572473	genomic	g.1948G>A,g.1888G>A,g.1948G>A
chr22:50572473	codon	c.1948GTC>ATC,c.1888GTC>ATC,c.1948GTC>ATC
chr22:50572473	protein	p.650V>I,p.630V>I,p.650V>I
chr22:50572473	worst	missense
chr22:50572473	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50572473	nvar	1
chr22:50572473	var	chr22:50572473:G/A
chr22:50572517	allele_ref	G
chr22:50572517	allele_alt	A
chr22:50572517	seqdb_ref	G
chr22:50572517	snp_fw_seq3	AGT/AAT
chr22:50572517	snp_rv_seq3	ACT/ATT
chr22:50572517	func	intronic,intronic,intronic
chr22:50572517	transcript	NM_001164104,NM_001164105,NM_018995
chr22:50572517	genomic	.,.,.
chr22:50572517	codon	.,.,.
chr22:50572517	protein	.,.,.
chr22:50572517	worst	intronic
chr22:50572517	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50572517	nvar	1
chr22:50572517	var	chr22:50572517:G/A
chr22:50573081	allele_ref	T
chr22:50573081	allele_alt	G
chr22:50573081	seqdb_ref	T
chr22:50573081	snp_fw_seq3	TTT/TGT
chr22:50573081	snp_rv_seq3	AAA/ACA
chr22:50573081	func	intronic,intronic,intronic
chr22:50573081	transcript	NM_001164104,NM_001164105,NM_018995
chr22:50573081	genomic	.,.,.
chr22:50573081	codon	.,.,.
chr22:50573081	protein	.,.,.
chr22:50573081	worst	intronic
chr22:50573081	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50573081	nvar	1
chr22:50573081	var	chr22:50573081:T/G
chr22:50573106	allele_ref	G
chr22:50573106	allele_alt	A
chr22:50573106	seqdb_ref	G
chr22:50573106	snp_fw_seq3	CGA/CAA
chr22:50573106	snp_rv_seq3	TCG/TTG
chr22:50573106	func	intronic,intronic,intronic
chr22:50573106	transcript	NM_001164104,NM_001164105,NM_018995
chr22:50573106	genomic	.,.,.
chr22:50573106	codon	.,.,.
chr22:50573106	protein	.,.,.
chr22:50573106	worst	intronic
chr22:50573106	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50573106	nvar	1
chr22:50573106	var	chr22:50573106:G/A
chr22:50582482	allele_ref	G
chr22:50582482	allele_alt	A
chr22:50582482	seqdb_ref	G
chr22:50582482	snp_fw_seq3	CGG/CAG
chr22:50582482	snp_rv_seq3	CCG/CTG
chr22:50582482	func	intronic,intronic,intronic
chr22:50582482	transcript	NM_001164104,NM_001164105,NM_018995
chr22:50582482	genomic	.,.,.
chr22:50582482	codon	.,.,.
chr22:50582482	protein	.,.,.
chr22:50582482	worst	intronic
chr22:50582482	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50582482	nvar	1
chr22:50582482	var	chr22:50582482:G/A
chr22:50582550	allele_ref	C
chr22:50582550	allele_alt	A
chr22:50582550	seqdb_ref	C
chr22:50582550	snp_fw_seq3	TCG/TAG
chr22:50582550	snp_rv_seq3	CGA/CTA
chr22:50582550	func	silent,silent,silent
chr22:50582550	transcript	NM_001164104,NM_001164105,NM_018995
chr22:50582550	genomic	.,.,.
chr22:50582550	codon	.,.,.
chr22:50582550	protein	.,.,.
chr22:50582550	worst	silent
chr22:50582550	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50582550	nvar	1
chr22:50582550	var	chr22:50582550:C/A
chr22:50582626	allele_ref	A
chr22:50582626	allele_alt	G
chr22:50582626	seqdb_ref	A
chr22:50582626	snp_fw_seq3	CAG/CGG
chr22:50582626	snp_rv_seq3	CTG/CCG
chr22:50582626	func	missense,missense,missense
chr22:50582626	transcript	NM_001164104,NM_001164105,NM_018995
chr22:50582626	genomic	g.2459A>G,g.2399A>G,g.2459A>G
chr22:50582626	codon	c.2459CAG>CGG,c.2399CAG>CGG,c.2459CAG>CGG
chr22:50582626	protein	p.820Q>R,p.800Q>R,p.820Q>R
chr22:50582626	worst	missense
chr22:50582626	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50582626	nvar	1
chr22:50582626	var	chr22:50582626:A/G
chr22:50584201	allele_ref	A
chr22:50584201	allele_alt	C
chr22:50584201	seqdb_ref	A
chr22:50584201	snp_fw_seq3	CAT/CCT
chr22:50584201	snp_rv_seq3	ATG/AGG
chr22:50584201	func	silent,silent,silent
chr22:50584201	transcript	NM_001164104,NM_001164105,NM_018995
chr22:50584201	genomic	.,.,.
chr22:50584201	codon	.,.,.
chr22:50584201	protein	.,.,.
chr22:50584201	worst	silent
chr22:50584201	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50584201	nvar	1
chr22:50584201	var	chr22:50584201:A/C
chr22:50584261	allele_ref	C
chr22:50584261	allele_alt	A
chr22:50584261	seqdb_ref	C
chr22:50584261	snp_fw_seq3	GCG/GAG
chr22:50584261	snp_rv_seq3	CGC/CTC
chr22:50584261	func	intronic,intronic,intronic
chr22:50584261	transcript	NM_001164104,NM_001164105,NM_018995
chr22:50584261	genomic	.,.,.
chr22:50584261	codon	.,.,.
chr22:50584261	protein	.,.,.
chr22:50584261	worst	intronic
chr22:50584261	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50584261	nvar	1
chr22:50584261	var	chr22:50584261:C/A
chr22:50584279	allele_ref	G
chr22:50584279	allele_alt	C
chr22:50584279	seqdb_ref	G
chr22:50584279	snp_fw_seq3	GGG/GCG
chr22:50584279	snp_rv_seq3	CCC/CGC
chr22:50584279	func	intronic,intronic,intronic
chr22:50584279	transcript	NM_001164104,NM_001164105,NM_018995
chr22:50584279	genomic	.,.,.
chr22:50584279	codon	.,.,.
chr22:50584279	protein	.,.,.
chr22:50584279	worst	intronic
chr22:50584279	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50584279	nvar	1
chr22:50584279	var	chr22:50584279:G/C
chr22:50588131	allele_ref	C
chr22:50588131	allele_alt	T
chr22:50588131	seqdb_ref	C
chr22:50588131	snp_fw_seq3	ACA/ATA
chr22:50588131	snp_rv_seq3	TGT/TAT
chr22:50588131	func	silent,silent,silent,silent
chr22:50588131	transcript	NM_001164104,NM_001164105,NM_001164106,NM_018995
chr22:50588131	genomic	.,.,.,.
chr22:50588131	codon	.,.,.,.
chr22:50588131	protein	.,.,.,.
chr22:50588131	worst	silent
chr22:50588131	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50588131	nvar	1
chr22:50588131	var	chr22:50588131:C/T
chr22:50588153	allele_ref	G
chr22:50588153	allele_alt	A
chr22:50588153	seqdb_ref	G
chr22:50588153	snp_fw_seq3	CGA/CAA
chr22:50588153	snp_rv_seq3	TCG/TTG
chr22:50588153	func	intronic,intronic,intronic,intronic
chr22:50588153	transcript	NM_001164104,NM_001164105,NM_001164106,NM_018995
chr22:50588153	genomic	.,.,.,.
chr22:50588153	codon	.,.,.,.
chr22:50588153	protein	.,.,.,.
chr22:50588153	worst	intronic
chr22:50588153	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50588153	nvar	1
chr22:50588153	var	chr22:50588153:G/A
chr22:50589196	allele_ref	C
chr22:50589196	allele_alt	A
chr22:50589196	seqdb_ref	C
chr22:50589196	snp_fw_seq3	GCC/GAC
chr22:50589196	snp_rv_seq3	GGC/GTC
chr22:50589196	func	silent,silent,silent,silent
chr22:50589196	transcript	NM_001164104,NM_001164105,NM_001164106,NM_018995
chr22:50589196	genomic	.,.,.,.
chr22:50589196	codon	.,.,.,.
chr22:50589196	protein	.,.,.,.
chr22:50589196	worst	silent
chr22:50589196	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50589196	nvar	1
chr22:50589196	var	chr22:50589196:C/A
chr22:50591668	allele_ref	G
chr22:50591668	allele_alt	A
chr22:50591668	seqdb_ref	G
chr22:50591668	snp_fw_seq3	CGT/CAT
chr22:50591668	snp_rv_seq3	ACG/ATG
chr22:50591668	func	intronic,intronic,intronic,intronic
chr22:50591668	transcript	NM_001164104,NM_001164105,NM_001164106,NM_018995
chr22:50591668	genomic	.,.,.,.
chr22:50591668	codon	.,.,.,.
chr22:50591668	protein	.,.,.,.
chr22:50591668	worst	intronic
chr22:50591668	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50591668	nvar	1
chr22:50591668	var	chr22:50591668:G/A
chr22:50591678	allele_ref	G
chr22:50591678	allele_alt	A
chr22:50591678	seqdb_ref	G
chr22:50591678	snp_fw_seq3	CGT/CAT
chr22:50591678	snp_rv_seq3	ACG/ATG
chr22:50591678	func	intronic,intronic,intronic,intronic
chr22:50591678	transcript	NM_001164104,NM_001164105,NM_001164106,NM_018995
chr22:50591678	genomic	.,.,.,.
chr22:50591678	codon	.,.,.,.
chr22:50591678	protein	.,.,.,.
chr22:50591678	worst	intronic
chr22:50591678	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50591678	nvar	1
chr22:50591678	var	chr22:50591678:G/A
chr22:50591683	allele_ref	G
chr22:50591683	allele_alt	A
chr22:50591683	seqdb_ref	G
chr22:50591683	snp_fw_seq3	CGG/CAG
chr22:50591683	snp_rv_seq3	CCG/CTG
chr22:50591683	func	intronic,intronic,intronic,intronic
chr22:50591683	transcript	NM_001164104,NM_001164105,NM_001164106,NM_018995
chr22:50591683	genomic	.,.,.,.
chr22:50591683	codon	.,.,.,.
chr22:50591683	protein	.,.,.,.
chr22:50591683	worst	intronic
chr22:50591683	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50591683	nvar	1
chr22:50591683	var	chr22:50591683:G/A
chr22:50599111	allele_ref	T
chr22:50599111	allele_alt	C
chr22:50599111	seqdb_ref	T
chr22:50599111	snp_fw_seq3	CTT/CCT
chr22:50599111	snp_rv_seq3	AAG/AGG
chr22:50599111	func	intronic,intronic,intronic,intronic
chr22:50599111	transcript	NM_001164104,NM_001164105,NM_001164106,NM_018995
chr22:50599111	genomic	.,.,.,.
chr22:50599111	codon	.,.,.,.
chr22:50599111	protein	.,.,.,.
chr22:50599111	worst	intronic
chr22:50599111	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50599111	nvar	1
chr22:50599111	var	chr22:50599111:T/C
chr22:50599466	allele_ref	C
chr22:50599466	allele_alt	A
chr22:50599466	seqdb_ref	C
chr22:50599466	snp_fw_seq3	GCA/GAA
chr22:50599466	snp_rv_seq3	TGC/TTC
chr22:50599466	func	missense,intronic,missense,missense
chr22:50599466	transcript	NM_001164104,NM_001164105,NM_001164106,NM_018995
chr22:50599466	genomic	g.3398C>A,.,g.917C>A,g.3536C>A
chr22:50599466	codon	c.3398GCA>GAA,.,c.917GCA>GAA,c.3536GCA>GAA
chr22:50599466	protein	p.1133A>E,.,p.306A>E,p.1179A>E
chr22:50599466	worst	missense
chr22:50599466	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50599466	nvar	1
chr22:50599466	var	chr22:50599466:C/A
chr22:50616005	allele_ref	C
chr22:50616005	allele_alt	G
chr22:50616005	seqdb_ref	C
chr22:50616005	snp_fw_seq3	GCA/GGA
chr22:50616005	snp_rv_seq3	TGC/TCC
chr22:50616005	func	silent,silent,npcRNA
chr22:50616005	transcript	NM_001160300,NM_052839,NR_027691
chr22:50616005	genomic	.,.,.
chr22:50616005	codon	.,.,.
chr22:50616005	protein	.,.,.
chr22:50616005	worst	silent
chr22:50616005	class	mixed,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:50616005	nvar	1
chr22:50616005	var	chr22:50616005:C/G
chr22:50616656	allele_ref	T
chr22:50616656	allele_alt	C
chr22:50616656	seqdb_ref	t
chr22:50616656	snp_fw_seq3	ctg/cCg
chr22:50616656	snp_rv_seq3	cag/cGg
chr22:50616656	func	silent,silent,npcRNA
chr22:50616656	transcript	NM_001160300,NM_052839,NR_027691
chr22:50616656	genomic	.,.,.
chr22:50616656	codon	.,.,.
chr22:50616656	protein	.,.,.
chr22:50616656	worst	silent
chr22:50616656	class	mixed,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:50616656	nvar	1
chr22:50616656	var	chr22:50616656:T/C
chr22:50616806	allele_ref	A
chr22:50616806	allele_alt	G
chr22:50616806	seqdb_ref	A
chr22:50616806	snp_fw_seq3	TAG/TGG
chr22:50616806	snp_rv_seq3	CTA/CCA
chr22:50616806	func	silent,silent,npcRNA
chr22:50616806	transcript	NM_001160300,NM_052839,NR_027691
chr22:50616806	genomic	.,.,.
chr22:50616806	codon	.,.,.
chr22:50616806	protein	.,.,.
chr22:50616806	worst	silent
chr22:50616806	class	mixed,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:50616806	nvar	1
chr22:50616806	var	chr22:50616806:A/G
chr22:50617726	allele_ref	C
chr22:50617726	allele_alt	T
chr22:50617726	seqdb_ref	C
chr22:50617726	snp_fw_seq3	CCG/CTG
chr22:50617726	snp_rv_seq3	CGG/CAG
chr22:50617726	func	3-UTR,3-UTR,npcRNA
chr22:50617726	transcript	NM_001160300,NM_052839,NR_027691
chr22:50617726	genomic	.,.,.
chr22:50617726	codon	.,.,.
chr22:50617726	protein	.,.,.
chr22:50617726	worst	UTR3
chr22:50617726	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=1
chr22:50617726	nvar	1
chr22:50617726	var	chr22:50617726:C/T
chr22:50632028	allele_ref	G
chr22:50632028	allele_alt	A
chr22:50632028	seqdb_ref	G
chr22:50632028	snp_fw_seq3	CGT/CAT
chr22:50632028	snp_rv_seq3	ACG/ATG
chr22:50632028	func	silent
chr22:50632028	transcript	NM_025204
chr22:50632028	genomic	.
chr22:50632028	codon	.
chr22:50632028	protein	.
chr22:50632028	worst	silent
chr22:50632028	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50632028	nvar	1
chr22:50632028	var	chr22:50632028:G/A
chr22:50632117	allele_ref	G
chr22:50632117	allele_alt	A
chr22:50632117	seqdb_ref	G
chr22:50632117	snp_fw_seq3	CGG/CAG
chr22:50632117	snp_rv_seq3	CCG/CTG
chr22:50632117	func	intronic
chr22:50632117	transcript	NM_025204
chr22:50632117	genomic	.
chr22:50632117	codon	.
chr22:50632117	protein	.
chr22:50632117	worst	intronic
chr22:50632117	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50632117	nvar	1
chr22:50632117	var	chr22:50632117:G/A
chr22:50633291	allele_ref	C
chr22:50633291	allele_alt	T
chr22:50633291	seqdb_ref	C
chr22:50633291	snp_fw_seq3	GCG/GTG
chr22:50633291	snp_rv_seq3	CGC/CAC
chr22:50633291	func	intronic
chr22:50633291	transcript	NM_025204
chr22:50633291	genomic	.
chr22:50633291	codon	.
chr22:50633291	protein	.
chr22:50633291	worst	intronic
chr22:50633291	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50633291	nvar	1
chr22:50633291	var	chr22:50633291:C/T
chr22:50635627	allele_ref	C
chr22:50635627	allele_alt	T
chr22:50635627	seqdb_ref	C
chr22:50635627	snp_fw_seq3	CCG/CTG
chr22:50635627	snp_rv_seq3	CGG/CAG
chr22:50635627	func	intronic
chr22:50635627	transcript	NM_025204
chr22:50635627	genomic	.
chr22:50635627	codon	.
chr22:50635627	protein	.
chr22:50635627	worst	intronic
chr22:50635627	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50635627	nvar	1
chr22:50635627	var	chr22:50635627:C/T
chr22:50635848	allele_ref	C
chr22:50635848	allele_alt	G
chr22:50635848	seqdb_ref	C
chr22:50635848	snp_fw_seq3	ACT/AGT
chr22:50635848	snp_rv_seq3	AGT/ACT
chr22:50635848	func	intronic
chr22:50635848	transcript	NM_025204
chr22:50635848	genomic	.
chr22:50635848	codon	.
chr22:50635848	protein	.
chr22:50635848	worst	intronic
chr22:50635848	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50635848	nvar	1
chr22:50635848	var	chr22:50635848:C/G
chr22:50635949	allele_ref	C
chr22:50635949	allele_alt	T
chr22:50635949	seqdb_ref	C
chr22:50635949	snp_fw_seq3	TCG/TTG
chr22:50635949	snp_rv_seq3	CGA/CAA
chr22:50635949	func	silent
chr22:50635949	transcript	NM_025204
chr22:50635949	genomic	.
chr22:50635949	codon	.
chr22:50635949	protein	.
chr22:50635949	worst	silent
chr22:50635949	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50635949	nvar	1
chr22:50635949	var	chr22:50635949:C/T
chr22:50636965	allele_ref	C
chr22:50636965	allele_alt	T
chr22:50636965	seqdb_ref	C
chr22:50636965	snp_fw_seq3	CCG/CTG
chr22:50636965	snp_rv_seq3	CGG/CAG
chr22:50636965	func	3-UTR
chr22:50636965	transcript	NM_025204
chr22:50636965	genomic	.
chr22:50636965	codon	.
chr22:50636965	protein	.
chr22:50636965	worst	UTR3
chr22:50636965	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:50636965	nvar	1
chr22:50636965	var	chr22:50636965:C/T
chr22:50644711	allele_ref	C
chr22:50644711	allele_alt	G
chr22:50644711	seqdb_ref	C
chr22:50644711	snp_fw_seq3	ACC/AGC
chr22:50644711	snp_rv_seq3	GGT/GCT
chr22:50644711	func	intronic
chr22:50644711	transcript	NM_031454
chr22:50644711	genomic	.
chr22:50644711	codon	.
chr22:50644711	protein	.
chr22:50644711	worst	intronic
chr22:50644711	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50644711	nvar	1
chr22:50644711	var	chr22:50644711:C/G
chr22:50644969	allele_ref	G
chr22:50644969	allele_alt	A
chr22:50644969	seqdb_ref	G
chr22:50644969	snp_fw_seq3	CGG/CAG
chr22:50644969	snp_rv_seq3	CCG/CTG
chr22:50644969	func	intronic
chr22:50644969	transcript	NM_031454
chr22:50644969	genomic	.
chr22:50644969	codon	.
chr22:50644969	protein	.
chr22:50644969	worst	intronic
chr22:50644969	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50644969	nvar	1
chr22:50644969	var	chr22:50644969:G/A
chr22:50646936	allele_ref	G
chr22:50646936	allele_alt	C
chr22:50646936	seqdb_ref	G
chr22:50646936	snp_fw_seq3	GGC/GCC
chr22:50646936	snp_rv_seq3	GCC/GGC
chr22:50646936	func	intronic
chr22:50646936	transcript	NM_031454
chr22:50646936	genomic	.
chr22:50646936	codon	.
chr22:50646936	protein	.
chr22:50646936	worst	intronic
chr22:50646936	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50646936	nvar	1
chr22:50646936	var	chr22:50646936:G/C
chr22:50647166	allele_ref	C
chr22:50647166	allele_alt	T
chr22:50647166	seqdb_ref	C
chr22:50647166	snp_fw_seq3	CCC/CTC
chr22:50647166	snp_rv_seq3	GGG/GAG
chr22:50647166	func	intronic
chr22:50647166	transcript	NM_031454
chr22:50647166	genomic	.
chr22:50647166	codon	.
chr22:50647166	protein	.
chr22:50647166	worst	intronic
chr22:50647166	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50647166	nvar	1
chr22:50647166	var	chr22:50647166:C/T
chr22:50647178	allele_ref	G
chr22:50647178	allele_alt	A
chr22:50647178	seqdb_ref	G
chr22:50647178	snp_fw_seq3	GGT/GAT
chr22:50647178	snp_rv_seq3	ACC/ATC
chr22:50647178	func	intronic
chr22:50647178	transcript	NM_031454
chr22:50647178	genomic	.
chr22:50647178	codon	.
chr22:50647178	protein	.
chr22:50647178	worst	intronic
chr22:50647178	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50647178	nvar	1
chr22:50647178	var	chr22:50647178:G/A
chr22:50648577	allele_ref	C
chr22:50648577	allele_alt	T
chr22:50648577	seqdb_ref	C
chr22:50648577	snp_fw_seq3	CCG/CTG
chr22:50648577	snp_rv_seq3	CGG/CAG
chr22:50648577	func	intronic
chr22:50648577	transcript	NM_031454
chr22:50648577	genomic	.
chr22:50648577	codon	.
chr22:50648577	protein	.
chr22:50648577	worst	intronic
chr22:50648577	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50648577	nvar	1
chr22:50648577	var	chr22:50648577:C/T
chr22:50648681	allele_ref	C
chr22:50648681	allele_alt	T
chr22:50648681	seqdb_ref	C
chr22:50648681	snp_fw_seq3	CCG/CTG
chr22:50648681	snp_rv_seq3	CGG/CAG
chr22:50648681	func	silent
chr22:50648681	transcript	NM_031454
chr22:50648681	genomic	.
chr22:50648681	codon	.
chr22:50648681	protein	.
chr22:50648681	worst	silent
chr22:50648681	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50648681	nvar	1
chr22:50648681	var	chr22:50648681:C/T
chr22:50648789	allele_ref	T
chr22:50648789	allele_alt	C
chr22:50648789	seqdb_ref	T
chr22:50648789	snp_fw_seq3	GTG/GCG
chr22:50648789	snp_rv_seq3	CAC/CGC
chr22:50648789	func	intronic
chr22:50648789	transcript	NM_031454
chr22:50648789	genomic	.
chr22:50648789	codon	.
chr22:50648789	protein	.
chr22:50648789	worst	intronic
chr22:50648789	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50648789	nvar	1
chr22:50648789	var	chr22:50648789:T/C
chr22:50649126	allele_ref	C
chr22:50649126	allele_alt	T
chr22:50649126	seqdb_ref	C
chr22:50649126	snp_fw_seq3	CCG/CTG
chr22:50649126	snp_rv_seq3	CGG/CAG
chr22:50649126	func	silent
chr22:50649126	transcript	NM_031454
chr22:50649126	genomic	.
chr22:50649126	codon	.
chr22:50649126	protein	.
chr22:50649126	worst	silent
chr22:50649126	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50649126	nvar	1
chr22:50649126	var	chr22:50649126:C/T
chr22:50654153	allele_ref	C
chr22:50654153	allele_alt	T
chr22:50654153	seqdb_ref	C
chr22:50654153	snp_fw_seq3	ACT/ATT
chr22:50654153	snp_rv_seq3	AGT/AAT
chr22:50654153	func	silent
chr22:50654153	transcript	NM_031454
chr22:50654153	genomic	.
chr22:50654153	codon	.
chr22:50654153	protein	.
chr22:50654153	worst	silent
chr22:50654153	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50654153	nvar	1
chr22:50654153	var	chr22:50654153:C/T
chr22:50654305	allele_ref	T
chr22:50654305	allele_alt	C
chr22:50654305	seqdb_ref	T
chr22:50654305	snp_fw_seq3	CTC/CCC
chr22:50654305	snp_rv_seq3	GAG/GGG
chr22:50654305	func	intronic
chr22:50654305	transcript	NM_031454
chr22:50654305	genomic	.
chr22:50654305	codon	.
chr22:50654305	protein	.
chr22:50654305	worst	intronic
chr22:50654305	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50654305	nvar	1
chr22:50654305	var	chr22:50654305:T/C
chr22:50655098	allele_ref	A
chr22:50655098	allele_alt	G
chr22:50655098	seqdb_ref	A
chr22:50655098	snp_fw_seq3	CAG/CGG
chr22:50655098	snp_rv_seq3	CTG/CCG
chr22:50655098	func	intronic
chr22:50655098	transcript	NM_031454
chr22:50655098	genomic	.
chr22:50655098	codon	.
chr22:50655098	protein	.
chr22:50655098	worst	intronic
chr22:50655098	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50655098	nvar	1
chr22:50655098	var	chr22:50655098:A/G
chr22:50655329	allele_ref	C
chr22:50655329	allele_alt	T
chr22:50655329	seqdb_ref	C
chr22:50655329	snp_fw_seq3	CCG/CTG
chr22:50655329	snp_rv_seq3	CGG/CAG
chr22:50655329	func	intronic
chr22:50655329	transcript	NM_031454
chr22:50655329	genomic	.
chr22:50655329	codon	.
chr22:50655329	protein	.
chr22:50655329	worst	intronic
chr22:50655329	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50655329	nvar	1
chr22:50655329	var	chr22:50655329:C/T
chr22:50655700	allele_ref	G
chr22:50655700	allele_alt	A
chr22:50655700	seqdb_ref	G
chr22:50655700	snp_fw_seq3	CGA/CAA
chr22:50655700	snp_rv_seq3	TCG/TTG
chr22:50655700	func	missense
chr22:50655700	transcript	NM_031454
chr22:50655700	genomic	g.1912G>A
chr22:50655700	codon	c.1912GAG>AAG
chr22:50655700	protein	p.638E>K
chr22:50655700	worst	missense
chr22:50655700	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50655700	nvar	1
chr22:50655700	var	chr22:50655700:G/A
chr22:50655723	allele_ref	G
chr22:50655723	allele_alt	A
chr22:50655723	seqdb_ref	G
chr22:50655723	snp_fw_seq3	CGG/CAG
chr22:50655723	snp_rv_seq3	CCG/CTG
chr22:50655723	func	silent
chr22:50655723	transcript	NM_031454
chr22:50655723	genomic	.
chr22:50655723	codon	.
chr22:50655723	protein	.
chr22:50655723	worst	silent
chr22:50655723	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50655723	nvar	1
chr22:50655723	var	chr22:50655723:G/A
chr22:50656126	allele_ref	G
chr22:50656126	allele_alt	A
chr22:50656126	seqdb_ref	G
chr22:50656126	snp_fw_seq3	CGA/CAA
chr22:50656126	snp_rv_seq3	TCG/TTG
chr22:50656126	func	3-UTR
chr22:50656126	transcript	NM_020461
chr22:50656126	genomic	.
chr22:50656126	codon	.
chr22:50656126	protein	.
chr22:50656126	worst	UTR3
chr22:50656126	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:50656126	nvar	1
chr22:50656126	var	chr22:50656126:G/A
chr22:50656534	allele_ref	C
chr22:50656534	allele_alt	T
chr22:50656534	seqdb_ref	C
chr22:50656534	snp_fw_seq3	CCG/CTG
chr22:50656534	snp_rv_seq3	CGG/CAG
chr22:50656534	func	silent
chr22:50656534	transcript	NM_020461
chr22:50656534	genomic	.
chr22:50656534	codon	.
chr22:50656534	protein	.
chr22:50656534	worst	silent
chr22:50656534	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50656534	nvar	1
chr22:50656534	var	chr22:50656534:C/T
chr22:50656650	allele_ref	C
chr22:50656650	allele_alt	T
chr22:50656650	seqdb_ref	C
chr22:50656650	snp_fw_seq3	GCG/GTG
chr22:50656650	snp_rv_seq3	CGC/CAC
chr22:50656650	func	silent
chr22:50656650	transcript	NM_020461
chr22:50656650	genomic	.
chr22:50656650	codon	.
chr22:50656650	protein	.
chr22:50656650	worst	silent
chr22:50656650	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50656650	nvar	1
chr22:50656650	var	chr22:50656650:C/T
chr22:50656942	allele_ref	G
chr22:50656942	allele_alt	A
chr22:50656942	seqdb_ref	G
chr22:50656942	snp_fw_seq3	CGT/CAT
chr22:50656942	snp_rv_seq3	ACG/ATG
chr22:50656942	func	silent
chr22:50656942	transcript	NM_020461
chr22:50656942	genomic	.
chr22:50656942	codon	.
chr22:50656942	protein	.
chr22:50656942	worst	silent
chr22:50656942	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50656942	nvar	1
chr22:50656942	var	chr22:50656942:G/A
chr22:50657010	allele_ref	C
chr22:50657010	allele_alt	G
chr22:50657010	seqdb_ref	C
chr22:50657010	snp_fw_seq3	ACG/AGG
chr22:50657010	snp_rv_seq3	CGT/CCT
chr22:50657010	func	missense
chr22:50657010	transcript	NM_020461
chr22:50657010	genomic	g.4861C>G
chr22:50657010	codon	c.4861GTG>CTG
chr22:50657010	protein	p.1621V>L
chr22:50657010	worst	missense
chr22:50657010	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50657010	nvar	1
chr22:50657010	var	chr22:50657010:C/G
chr22:50657112	allele_ref	C
chr22:50657112	allele_alt	T
chr22:50657112	seqdb_ref	C
chr22:50657112	snp_fw_seq3	GCG/GTG
chr22:50657112	snp_rv_seq3	CGC/CAC
chr22:50657112	func	intronic
chr22:50657112	transcript	NM_020461
chr22:50657112	genomic	.
chr22:50657112	codon	.
chr22:50657112	protein	.
chr22:50657112	worst	intronic
chr22:50657112	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50657112	nvar	1
chr22:50657112	var	chr22:50657112:C/T
chr22:50657189	allele_ref	G
chr22:50657189	allele_alt	A
chr22:50657189	seqdb_ref	G
chr22:50657189	snp_fw_seq3	CGG/CAG
chr22:50657189	snp_rv_seq3	CCG/CTG
chr22:50657189	func	silent
chr22:50657189	transcript	NM_020461
chr22:50657189	genomic	.
chr22:50657189	codon	.
chr22:50657189	protein	.
chr22:50657189	worst	silent
chr22:50657189	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50657189	nvar	1
chr22:50657189	var	chr22:50657189:G/A
chr22:50657219	allele_ref	G
chr22:50657219	allele_alt	A
chr22:50657219	seqdb_ref	G
chr22:50657219	snp_fw_seq3	TGG/TAG
chr22:50657219	snp_rv_seq3	CCA/CTA
chr22:50657219	func	silent
chr22:50657219	transcript	NM_020461
chr22:50657219	genomic	.
chr22:50657219	codon	.
chr22:50657219	protein	.
chr22:50657219	worst	silent
chr22:50657219	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50657219	nvar	1
chr22:50657219	var	chr22:50657219:G/A
chr22:50657225	allele_ref	G
chr22:50657225	allele_alt	A
chr22:50657225	seqdb_ref	G
chr22:50657225	snp_fw_seq3	CGT/CAT
chr22:50657225	snp_rv_seq3	ACG/ATG
chr22:50657225	func	silent
chr22:50657225	transcript	NM_020461
chr22:50657225	genomic	.
chr22:50657225	codon	.
chr22:50657225	protein	.
chr22:50657225	worst	silent
chr22:50657225	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50657225	nvar	1
chr22:50657225	var	chr22:50657225:G/A
chr22:50657611	allele_ref	G
chr22:50657611	allele_alt	A
chr22:50657611	seqdb_ref	G
chr22:50657611	snp_fw_seq3	CGA/CAA
chr22:50657611	snp_rv_seq3	TCG/TTG
chr22:50657611	func	silent
chr22:50657611	transcript	NM_020461
chr22:50657611	genomic	.
chr22:50657611	codon	.
chr22:50657611	protein	.
chr22:50657611	worst	silent
chr22:50657611	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50657611	nvar	1
chr22:50657611	var	chr22:50657611:G/A
chr22:50657875	allele_ref	G
chr22:50657875	allele_alt	A
chr22:50657875	seqdb_ref	G
chr22:50657875	snp_fw_seq3	TGG/TAG
chr22:50657875	snp_rv_seq3	CCA/CTA
chr22:50657875	func	silent
chr22:50657875	transcript	NM_020461
chr22:50657875	genomic	.
chr22:50657875	codon	.
chr22:50657875	protein	.
chr22:50657875	worst	silent
chr22:50657875	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50657875	nvar	1
chr22:50657875	var	chr22:50657875:G/A
chr22:50658053	allele_ref	A
chr22:50658053	allele_alt	G,T
chr22:50658053	seqdb_ref	A
chr22:50658053	func	intronic
chr22:50658053	transcript	NM_020461
chr22:50658053	genomic	.
chr22:50658053	codon	.
chr22:50658053	protein	.
chr22:50658053	worst	intronic
chr22:50658053	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50658053	nvar	1
chr22:50658053	var	chr22:50658053:A/G,T
chr22:50658424	allele_ref	T
chr22:50658424	allele_alt	C
chr22:50658424	seqdb_ref	T
chr22:50658424	snp_fw_seq3	GTG/GCG
chr22:50658424	snp_rv_seq3	CAC/CGC
chr22:50658424	func	missense
chr22:50658424	transcript	NM_020461
chr22:50658424	genomic	g.4129T>C
chr22:50658424	codon	c.4129ACT>GCT
chr22:50658424	protein	p.1377T>A
chr22:50658424	worst	missense
chr22:50658424	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50658424	nvar	1
chr22:50658424	var	chr22:50658424:T/C
chr22:50658494	allele_ref	C
chr22:50658494	allele_alt	A
chr22:50658494	seqdb_ref	C
chr22:50658494	snp_fw_seq3	GCG/GAG
chr22:50658494	snp_rv_seq3	CGC/CTC
chr22:50658494	func	intronic
chr22:50658494	transcript	NM_020461
chr22:50658494	genomic	.
chr22:50658494	codon	.
chr22:50658494	protein	.
chr22:50658494	worst	intronic
chr22:50658494	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50658494	nvar	1
chr22:50658494	var	chr22:50658494:C/A
chr22:50658698	allele_ref	T
chr22:50658698	allele_alt	A
chr22:50658698	seqdb_ref	T
chr22:50658698	snp_fw_seq3	CTG/CAG
chr22:50658698	snp_rv_seq3	CAG/CTG
chr22:50658698	func	missense
chr22:50658698	transcript	NM_020461
chr22:50658698	genomic	g.4090T>A
chr22:50658698	codon	c.4090AGT>TGT
chr22:50658698	protein	p.1364S>C
chr22:50658698	worst	missense
chr22:50658698	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50658698	nvar	1
chr22:50658698	var	chr22:50658698:T/A
chr22:50659347	allele_ref	G
chr22:50659347	allele_alt	A
chr22:50659347	seqdb_ref	G
chr22:50659347	snp_fw_seq3	CGT/CAT
chr22:50659347	snp_rv_seq3	ACG/ATG
chr22:50659347	func	silent
chr22:50659347	transcript	NM_020461
chr22:50659347	genomic	.
chr22:50659347	codon	.
chr22:50659347	protein	.
chr22:50659347	worst	silent
chr22:50659347	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50659347	nvar	1
chr22:50659347	var	chr22:50659347:G/A
chr22:50659481	allele_ref	G
chr22:50659481	allele_alt	A
chr22:50659481	seqdb_ref	G
chr22:50659481	snp_fw_seq3	CGT/CAT
chr22:50659481	snp_rv_seq3	ACG/ATG
chr22:50659481	func	missense
chr22:50659481	transcript	NM_020461
chr22:50659481	genomic	g.3307G>A
chr22:50659481	codon	c.3307CGG>TGG
chr22:50659481	protein	p.1103R>W
chr22:50659481	worst	missense
chr22:50659481	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50659481	nvar	1
chr22:50659481	var	chr22:50659481:G/A
chr22:50659690	allele_ref	C
chr22:50659690	allele_alt	T
chr22:50659690	seqdb_ref	C
chr22:50659690	snp_fw_seq3	ACC/ATC
chr22:50659690	snp_rv_seq3	GGT/GAT
chr22:50659690	func	missense
chr22:50659690	transcript	NM_020461
chr22:50659690	genomic	g.3098C>T
chr22:50659690	codon	c.3098GGT>GAT
chr22:50659690	protein	p.1033G>D
chr22:50659690	worst	missense
chr22:50659690	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50659690	nvar	1
chr22:50659690	var	chr22:50659690:C/T
chr22:50659696	allele_ref	C
chr22:50659696	allele_alt	G
chr22:50659696	seqdb_ref	C
chr22:50659696	snp_fw_seq3	CCC/CGC
chr22:50659696	snp_rv_seq3	GGG/GCG
chr22:50659696	func	missense
chr22:50659696	transcript	NM_020461
chr22:50659696	genomic	g.3092C>G
chr22:50659696	codon	c.3092GGG>GCG
chr22:50659696	protein	p.1031G>A
chr22:50659696	worst	missense
chr22:50659696	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50659696	nvar	1
chr22:50659696	var	chr22:50659696:C/G
chr22:50661058	allele_ref	G
chr22:50661058	allele_alt	A
chr22:50661058	seqdb_ref	G
chr22:50661058	snp_fw_seq3	AGT/AAT
chr22:50661058	snp_rv_seq3	ACT/ATT
chr22:50661058	func	intronic
chr22:50661058	transcript	NM_020461
chr22:50661058	genomic	.
chr22:50661058	codon	.
chr22:50661058	protein	.
chr22:50661058	worst	intronic
chr22:50661058	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50661058	nvar	1
chr22:50661058	var	chr22:50661058:G/A
chr22:50662984	allele_ref	G
chr22:50662984	allele_alt	A
chr22:50662984	seqdb_ref	G
chr22:50662984	snp_fw_seq3	AGC/AAC
chr22:50662984	snp_rv_seq3	GCT/GTT
chr22:50662984	func	missense
chr22:50662984	transcript	NM_020461
chr22:50662984	genomic	g.2021G>A
chr22:50662984	codon	c.2021GCT>GTT
chr22:50662984	protein	p.674A>V
chr22:50662984	worst	missense
chr22:50662984	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50662984	nvar	1
chr22:50662984	var	chr22:50662984:G/A
chr22:50664448	allele_ref	C
chr22:50664448	allele_alt	T
chr22:50664448	seqdb_ref	C
chr22:50664448	snp_fw_seq3	CCT/CTT
chr22:50664448	snp_rv_seq3	AGG/AAG
chr22:50664448	func	intronic
chr22:50664448	transcript	NM_020461
chr22:50664448	genomic	.
chr22:50664448	codon	.
chr22:50664448	protein	.
chr22:50664448	worst	intronic
chr22:50664448	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50664448	nvar	1
chr22:50664448	var	chr22:50664448:C/T
chr22:50664612	allele_ref	A
chr22:50664612	allele_alt	G
chr22:50664612	seqdb_ref	A
chr22:50664612	snp_fw_seq3	CAA/CGA
chr22:50664612	snp_rv_seq3	TTG/TCG
chr22:50664612	func	missense
chr22:50664612	transcript	NM_020461
chr22:50664612	genomic	g.1700A>G
chr22:50664612	codon	c.1700TTG>TCG
chr22:50664612	protein	p.567L>S
chr22:50664612	worst	missense
chr22:50664612	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50664612	nvar	1
chr22:50664612	var	chr22:50664612:A/G
chr22:50664797	allele_ref	C
chr22:50664797	allele_alt	T
chr22:50664797	seqdb_ref	C
chr22:50664797	snp_fw_seq3	TCG/TTG
chr22:50664797	snp_rv_seq3	CGA/CAA
chr22:50664797	func	missense
chr22:50664797	transcript	NM_020461
chr22:50664797	genomic	g.1612C>T
chr22:50664797	codon	c.1612GAC>AAC
chr22:50664797	protein	p.538D>N
chr22:50664797	worst	missense
chr22:50664797	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50664797	nvar	1
chr22:50664797	var	chr22:50664797:C/T
chr22:50664801	allele_ref	G
chr22:50664801	allele_alt	A
chr22:50664801	seqdb_ref	G
chr22:50664801	snp_fw_seq3	GGA/GAA
chr22:50664801	snp_rv_seq3	TCC/TTC
chr22:50664801	func	silent
chr22:50664801	transcript	NM_020461
chr22:50664801	genomic	.
chr22:50664801	codon	.
chr22:50664801	protein	.
chr22:50664801	worst	silent
chr22:50664801	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50664801	nvar	1
chr22:50664801	var	chr22:50664801:G/A
chr22:50665476	allele_ref	A
chr22:50665476	allele_alt	G
chr22:50665476	seqdb_ref	A
chr22:50665476	snp_fw_seq3	CAG/CGG
chr22:50665476	snp_rv_seq3	CTG/CCG
chr22:50665476	func	silent
chr22:50665476	transcript	NM_020461
chr22:50665476	genomic	.
chr22:50665476	codon	.
chr22:50665476	protein	.
chr22:50665476	worst	silent
chr22:50665476	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50665476	nvar	1
chr22:50665476	var	chr22:50665476:A/G
chr22:50667859	allele_ref	A
chr22:50667859	allele_alt	G
chr22:50667859	seqdb_ref	A
chr22:50667859	snp_fw_seq3	AAA/AGA
chr22:50667859	snp_rv_seq3	TTT/TCT
chr22:50667859	func	silent
chr22:50667859	transcript	NM_020461
chr22:50667859	genomic	.
chr22:50667859	codon	.
chr22:50667859	protein	.
chr22:50667859	worst	silent
chr22:50667859	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50667859	nvar	1
chr22:50667859	var	chr22:50667859:A/G
chr22:50668005	allele_ref	G
chr22:50668005	allele_alt	A
chr22:50668005	seqdb_ref	G
chr22:50668005	snp_fw_seq3	CGG/CAG
chr22:50668005	snp_rv_seq3	CCG/CTG
chr22:50668005	func	splice,missense
chr22:50668005	annot_details	DIST=-1,NMD=0,OFPTV=1,EXIN=4,ISEQ=GACGTG,ESEQ=CCGGCC,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS4+-1C>T
chr22:50668005	transcript	NM_020461,NM_020461
chr22:50668005	genomic	.,g.1118G>A
chr22:50668005	codon	.,c.1118CCG>CTG
chr22:50668005	protein	.,p.373P>L
chr22:50668005	worst	missense
chr22:50668005	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50668005	nvar	1
chr22:50668005	var	chr22:50668005:G/A
chr22:50671990	allele_ref	C
chr22:50671990	allele_alt	T
chr22:50671990	seqdb_ref	C
chr22:50671990	snp_fw_seq3	ACG/ATG
chr22:50671990	snp_rv_seq3	CGT/CAT
chr22:50671990	func	intronic
chr22:50671990	transcript	NM_020461
chr22:50671990	genomic	.
chr22:50671990	codon	.
chr22:50671990	protein	.
chr22:50671990	worst	intronic
chr22:50671990	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50671990	nvar	1
chr22:50671990	var	chr22:50671990:C/T
chr22:50678701	allele_ref	G
chr22:50678701	allele_alt	A
chr22:50678701	seqdb_ref	G
chr22:50678701	snp_fw_seq3	CGT/CAT
chr22:50678701	snp_rv_seq3	ACG/ATG
chr22:50678701	func	silent
chr22:50678701	transcript	NM_020461
chr22:50678701	genomic	.
chr22:50678701	codon	.
chr22:50678701	protein	.
chr22:50678701	worst	silent
chr22:50678701	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50678701	nvar	1
chr22:50678701	var	chr22:50678701:G/A
chr22:50678830	allele_ref	T
chr22:50678830	allele_alt	C
chr22:50678830	seqdb_ref	T
chr22:50678830	snp_fw_seq3	ATT/ACT
chr22:50678830	snp_rv_seq3	AAT/AGT
chr22:50678830	func	intronic
chr22:50678830	transcript	NM_020461
chr22:50678830	genomic	.
chr22:50678830	codon	.
chr22:50678830	protein	.
chr22:50678830	worst	intronic
chr22:50678830	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50678830	nvar	1
chr22:50678830	var	chr22:50678830:T/C
chr22:50682578	allele_ref	A
chr22:50682578	allele_alt	G
chr22:50682578	seqdb_ref	A
chr22:50682578	snp_fw_seq3	AAG/AGG
chr22:50682578	snp_rv_seq3	CTT/CCT
chr22:50682578	func	missense
chr22:50682578	transcript	NM_020461
chr22:50682578	genomic	g.311A>G
chr22:50682578	codon	c.311CTT>CCT
chr22:50682578	protein	p.104L>P
chr22:50682578	worst	missense
chr22:50682578	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50682578	nvar	1
chr22:50682578	var	chr22:50682578:A/G
chr22:50682865	allele_ref	G
chr22:50682865	allele_alt	A
chr22:50682865	seqdb_ref	G
chr22:50682865	snp_fw_seq3	CGA/CAA
chr22:50682865	snp_rv_seq3	TCG/TTG
chr22:50682865	func	silent
chr22:50682865	transcript	NM_020461
chr22:50682865	genomic	.
chr22:50682865	codon	.
chr22:50682865	protein	.
chr22:50682865	worst	silent
chr22:50682865	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50682865	nvar	1
chr22:50682865	var	chr22:50682865:G/A
chr22:50682879	allele_ref	T
chr22:50682879	allele_alt	C
chr22:50682879	seqdb_ref	T
chr22:50682879	snp_fw_seq3	ATG/ACG
chr22:50682879	snp_rv_seq3	CAT/CGT
chr22:50682879	func	missense
chr22:50682879	transcript	NM_020461
chr22:50682879	genomic	g.10T>C
chr22:50682879	codon	c.10ATC>GTC
chr22:50682879	protein	p.4I>V
chr22:50682879	worst	missense
chr22:50682879	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50682879	nvar	1
chr22:50682879	var	chr22:50682879:T/C
chr22:50684097	allele_ref	G
chr22:50684097	allele_alt	A
chr22:50684097	seqdb_ref	G
chr22:50684097	snp_fw_seq3	AGC/AAC
chr22:50684097	snp_rv_seq3	GCT/GTT
chr22:50684097	func	intronic,intronic
chr22:50684097	transcript	NM_001159286,NM_032019
chr22:50684097	genomic	.,.
chr22:50684097	codon	.,.
chr22:50684097	protein	.,.
chr22:50684097	worst	intronic
chr22:50684097	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50684097	nvar	1
chr22:50684097	var	chr22:50684097:G/A
chr22:50684256	allele_ref	T
chr22:50684256	allele_alt	C
chr22:50684256	seqdb_ref	T
chr22:50684256	snp_fw_seq3	TTC/TCC
chr22:50684256	snp_rv_seq3	GAA/GGA
chr22:50684256	func	splice,missense,splice,missense
chr22:50684256	annot_details	DIST=0,NMD=0,OFPTV=1,EXIN=18,ISEQ=GACCTG,ESEQ=CCTCAA,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS18+0A>G,DIST=0,NMD=0,OFPTV=1,EXIN=19,ISEQ=GACCTG,ESEQ=CCTCAA,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS19+0A>G
chr22:50684256	transcript	NM_001159286,NM_001159286,NM_032019,NM_032019
chr22:50684256	genomic	.,g.1774T>C,.,g.1834T>C
chr22:50684256	codon	.,c.1774AAC>GAC,.,c.1834AAC>GAC
chr22:50684256	protein	.,p.592N>D,.,p.612N>D
chr22:50684256	worst	missense
chr22:50684256	class	mixed,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50684256	nvar	1
chr22:50684256	var	chr22:50684256:T/C
chr22:50684296	allele_ref	T
chr22:50684296	allele_alt	C
chr22:50684296	seqdb_ref	T
chr22:50684296	snp_fw_seq3	TTC/TCC
chr22:50684296	snp_rv_seq3	GAA/GGA
chr22:50684296	func	intronic,intronic
chr22:50684296	transcript	NM_001159286,NM_032019
chr22:50684296	genomic	.,.
chr22:50684296	codon	.,.
chr22:50684296	protein	.,.
chr22:50684296	worst	intronic
chr22:50684296	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50684296	nvar	1
chr22:50684296	var	chr22:50684296:T/C
chr22:50684471	allele_ref	G
chr22:50684471	allele_alt	C
chr22:50684471	seqdb_ref	G
chr22:50684471	snp_fw_seq3	AGG/ACG
chr22:50684471	snp_rv_seq3	CCT/CGT
chr22:50684471	func	silent,silent
chr22:50684471	transcript	NM_001159286,NM_032019
chr22:50684471	genomic	.,.
chr22:50684471	codon	.,.
chr22:50684471	protein	.,.
chr22:50684471	worst	silent
chr22:50684471	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50684471	nvar	1
chr22:50684471	var	chr22:50684471:G/C
chr22:50684561	allele_ref	C
chr22:50684561	allele_alt	G
chr22:50684561	seqdb_ref	C
chr22:50684561	snp_fw_seq3	ACC/AGC
chr22:50684561	snp_rv_seq3	GGT/GCT
chr22:50684561	func	intronic,intronic
chr22:50684561	transcript	NM_001159286,NM_032019
chr22:50684561	genomic	.,.
chr22:50684561	codon	.,.
chr22:50684561	protein	.,.
chr22:50684561	worst	intronic
chr22:50684561	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50684561	nvar	1
chr22:50684561	var	chr22:50684561:C/G
chr22:50684708	allele_ref	G
chr22:50684708	allele_alt	A
chr22:50684708	seqdb_ref	G
chr22:50684708	snp_fw_seq3	CGC/CAC
chr22:50684708	snp_rv_seq3	GCG/GTG
chr22:50684708	func	intronic,intronic
chr22:50684708	transcript	NM_001159286,NM_032019
chr22:50684708	genomic	.,.
chr22:50684708	codon	.,.
chr22:50684708	protein	.,.
chr22:50684708	worst	intronic
chr22:50684708	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50684708	nvar	1
chr22:50684708	var	chr22:50684708:G/A
chr22:50685069	allele_ref	C
chr22:50685069	allele_alt	T
chr22:50685069	seqdb_ref	C
chr22:50685069	snp_fw_seq3	ACA/ATA
chr22:50685069	snp_rv_seq3	TGT/TAT
chr22:50685069	func	intronic,intronic
chr22:50685069	transcript	NM_001159286,NM_032019
chr22:50685069	genomic	.,.
chr22:50685069	codon	.,.
chr22:50685069	protein	.,.
chr22:50685069	worst	intronic
chr22:50685069	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50685069	nvar	1
chr22:50685069	var	chr22:50685069:C/T
chr22:50685290	allele_ref	C
chr22:50685290	allele_alt	T
chr22:50685290	seqdb_ref	C
chr22:50685290	snp_fw_seq3	CCA/CTA
chr22:50685290	snp_rv_seq3	TGG/TAG
chr22:50685290	func	intronic,intronic
chr22:50685290	transcript	NM_001159286,NM_032019
chr22:50685290	genomic	.,.
chr22:50685290	codon	.,.
chr22:50685290	protein	.,.
chr22:50685290	worst	intronic
chr22:50685290	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50685290	nvar	1
chr22:50685290	var	chr22:50685290:C/T
chr22:50685402	allele_ref	G
chr22:50685402	allele_alt	T
chr22:50685402	seqdb_ref	G
chr22:50685402	snp_fw_seq3	GGA/GTA
chr22:50685402	snp_rv_seq3	TCC/TAC
chr22:50685402	func	intronic,intronic
chr22:50685402	transcript	NM_001159286,NM_032019
chr22:50685402	genomic	.,.
chr22:50685402	codon	.,.
chr22:50685402	protein	.,.
chr22:50685402	worst	intronic
chr22:50685402	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50685402	nvar	1
chr22:50685402	var	chr22:50685402:G/T
chr22:50686284	allele_ref	G
chr22:50686284	allele_alt	A
chr22:50686284	seqdb_ref	G
chr22:50686284	snp_fw_seq3	CGG/CAG
chr22:50686284	snp_rv_seq3	CCG/CTG
chr22:50686284	func	intronic,intronic
chr22:50686284	transcript	NM_001159286,NM_032019
chr22:50686284	genomic	.,.
chr22:50686284	codon	.,.
chr22:50686284	protein	.,.
chr22:50686284	worst	intronic
chr22:50686284	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50686284	nvar	1
chr22:50686284	var	chr22:50686284:G/A
chr22:50686473	allele_ref	G
chr22:50686473	allele_alt	A
chr22:50686473	seqdb_ref	G
chr22:50686473	snp_fw_seq3	GGT/GAT
chr22:50686473	snp_rv_seq3	ACC/ATC
chr22:50686473	func	missense,missense
chr22:50686473	transcript	NM_001159286,NM_032019
chr22:50686473	genomic	g.1123G>A,g.1183G>A
chr22:50686473	codon	c.1123CCG>TCG,c.1183CCG>TCG
chr22:50686473	protein	p.375P>S,p.395P>S
chr22:50686473	worst	missense
chr22:50686473	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50686473	nvar	1
chr22:50686473	var	chr22:50686473:G/A
chr22:50686501	allele_ref	A
chr22:50686501	allele_alt	T
chr22:50686501	seqdb_ref	A
chr22:50686501	snp_fw_seq3	GAC/GTC
chr22:50686501	snp_rv_seq3	GTC/GAC
chr22:50686501	func	silent,silent
chr22:50686501	transcript	NM_001159286,NM_032019
chr22:50686501	genomic	.,.
chr22:50686501	codon	.,.
chr22:50686501	protein	.,.
chr22:50686501	worst	silent
chr22:50686501	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50686501	nvar	1
chr22:50686501	var	chr22:50686501:A/T
chr22:50686607	allele_ref	A
chr22:50686607	allele_alt	G
chr22:50686607	seqdb_ref	A
chr22:50686607	snp_fw_seq3	CAG/CGG
chr22:50686607	snp_rv_seq3	CTG/CCG
chr22:50686607	func	intronic,intronic
chr22:50686607	transcript	NM_001159286,NM_032019
chr22:50686607	genomic	.,.
chr22:50686607	codon	.,.
chr22:50686607	protein	.,.
chr22:50686607	worst	intronic
chr22:50686607	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50686607	nvar	1
chr22:50686607	var	chr22:50686607:A/G
chr22:50686767	allele_ref	G
chr22:50686767	allele_alt	C
chr22:50686767	seqdb_ref	G
chr22:50686767	snp_fw_seq3	GGC/GCC
chr22:50686767	snp_rv_seq3	GCC/GGC
chr22:50686767	func	intronic,intronic
chr22:50686767	transcript	NM_001159286,NM_032019
chr22:50686767	genomic	.,.
chr22:50686767	codon	.,.
chr22:50686767	protein	.,.
chr22:50686767	worst	intronic
chr22:50686767	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50686767	nvar	1
chr22:50686767	var	chr22:50686767:G/C
chr22:50687595	allele_ref	A
chr22:50687595	allele_alt	G
chr22:50687595	seqdb_ref	A
chr22:50687595	snp_fw_seq3	CAA/CGA
chr22:50687595	snp_rv_seq3	TTG/TCG
chr22:50687595	func	silent,splice,silent,splice
chr22:50687595	annot_details	DIST=-2,NMD=0,OFPTV=1,EXIN=8,ISEQ=GACCGT,ESEQ=GGGTTG,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS8+-2T>C,DIST=-2,NMD=0,OFPTV=1,EXIN=8,ISEQ=GACCGT,ESEQ=GGGTTG,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS8+-2T>C
chr22:50687595	transcript	NM_001159286,NM_001159286,NM_032019,NM_032019
chr22:50687595	genomic	.,.,.,.
chr22:50687595	codon	.,.,.,.
chr22:50687595	protein	.,.,.,.
chr22:50687595	worst	splice
chr22:50687595	class	mixed,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50687595	nvar	1
chr22:50687595	var	chr22:50687595:A/G
chr22:50687618	allele_ref	A
chr22:50687618	allele_alt	G
chr22:50687618	seqdb_ref	A
chr22:50687618	snp_fw_seq3	TAC/TGC
chr22:50687618	snp_rv_seq3	GTA/GCA
chr22:50687618	func	intronic,intronic
chr22:50687618	transcript	NM_001159286,NM_032019
chr22:50687618	genomic	.,.
chr22:50687618	codon	.,.
chr22:50687618	protein	.,.
chr22:50687618	worst	intronic
chr22:50687618	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50687618	nvar	1
chr22:50687618	var	chr22:50687618:A/G
chr22:50688348	allele_ref	A
chr22:50688348	allele_alt	G
chr22:50688348	seqdb_ref	A
chr22:50688348	snp_fw_seq3	CAC/CGC
chr22:50688348	snp_rv_seq3	GTG/GCG
chr22:50688348	func	silent,silent
chr22:50688348	transcript	NM_001159286,NM_032019
chr22:50688348	genomic	.,.
chr22:50688348	codon	.,.
chr22:50688348	protein	.,.
chr22:50688348	worst	silent
chr22:50688348	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50688348	nvar	1
chr22:50688348	var	chr22:50688348:A/G
chr22:50688456	allele_ref	C
chr22:50688456	allele_alt	T
chr22:50688456	seqdb_ref	C
chr22:50688456	snp_fw_seq3	CCA/CTA
chr22:50688456	snp_rv_seq3	TGG/TAG
chr22:50688456	func	intronic,intronic
chr22:50688456	transcript	NM_001159286,NM_032019
chr22:50688456	genomic	.,.
chr22:50688456	codon	.,.
chr22:50688456	protein	.,.
chr22:50688456	worst	intronic
chr22:50688456	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50688456	nvar	1
chr22:50688456	var	chr22:50688456:C/T
chr22:50694297	allele_ref	A
chr22:50694297	allele_alt	G
chr22:50694297	seqdb_ref	A
chr22:50694297	snp_fw_seq3	CAG/CGG
chr22:50694297	snp_rv_seq3	CTG/CCG
chr22:50694297	func	silent
chr22:50694297	transcript	NM_002969
chr22:50694297	genomic	.
chr22:50694297	codon	.
chr22:50694297	protein	.
chr22:50694297	worst	silent
chr22:50694297	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50694297	nvar	1
chr22:50694297	var	chr22:50694297:A/G
chr22:50696648	allele_ref	C
chr22:50696648	allele_alt	T
chr22:50696648	seqdb_ref	C
chr22:50696648	snp_fw_seq3	GCG/GTG
chr22:50696648	snp_rv_seq3	CGC/CAC
chr22:50696648	func	intronic
chr22:50696648	transcript	NM_002969
chr22:50696648	genomic	.
chr22:50696648	codon	.
chr22:50696648	protein	.
chr22:50696648	worst	intronic
chr22:50696648	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50696648	nvar	1
chr22:50696648	var	chr22:50696648:C/T
chr22:50696662	allele_ref	C
chr22:50696662	allele_alt	T
chr22:50696662	seqdb_ref	C
chr22:50696662	snp_fw_seq3	TCG/TTG
chr22:50696662	snp_rv_seq3	CGA/CAA
chr22:50696662	func	intronic
chr22:50696662	transcript	NM_002969
chr22:50696662	genomic	.
chr22:50696662	codon	.
chr22:50696662	protein	.
chr22:50696662	worst	intronic
chr22:50696662	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50696662	nvar	1
chr22:50696662	var	chr22:50696662:C/T
chr22:50696678	allele_ref	G
chr22:50696678	allele_alt	A
chr22:50696678	seqdb_ref	G
chr22:50696678	snp_fw_seq3	CGT/CAT
chr22:50696678	snp_rv_seq3	ACG/ATG
chr22:50696678	func	missense
chr22:50696678	transcript	NM_002969
chr22:50696678	genomic	g.308G>A
chr22:50696678	codon	c.308ACG>ATG
chr22:50696678	protein	p.103T>M
chr22:50696678	worst	missense
chr22:50696678	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50696678	nvar	1
chr22:50696678	var	chr22:50696678:G/A
chr22:50699668	allele_ref	A
chr22:50699668	allele_alt	G
chr22:50699668	seqdb_ref	A
chr22:50699668	snp_fw_seq3	AAG/AGG
chr22:50699668	snp_rv_seq3	CTT/CCT
chr22:50699668	func	silent
chr22:50699668	transcript	NM_002969
chr22:50699668	genomic	.
chr22:50699668	codon	.
chr22:50699668	protein	.
chr22:50699668	worst	silent
chr22:50699668	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50699668	nvar	1
chr22:50699668	var	chr22:50699668:A/G
chr22:50703710	allele_ref	G
chr22:50703710	allele_alt	A
chr22:50703710	seqdb_ref	G
chr22:50703710	snp_fw_seq3	CGC/CAC
chr22:50703710	snp_rv_seq3	GCG/GTG
chr22:50703710	func	intronic
chr22:50703710	transcript	NM_002751
chr22:50703710	genomic	.
chr22:50703710	codon	.
chr22:50703710	protein	.
chr22:50703710	worst	intronic
chr22:50703710	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50703710	nvar	1
chr22:50703710	var	chr22:50703710:G/A
chr22:50704661	allele_ref	T
chr22:50704661	allele_alt	C
chr22:50704661	seqdb_ref	T
chr22:50704661	snp_fw_seq3	CTG/CCG
chr22:50704661	snp_rv_seq3	CAG/CGG
chr22:50704661	func	silent
chr22:50704661	transcript	NM_002751
chr22:50704661	genomic	.
chr22:50704661	codon	.
chr22:50704661	protein	.
chr22:50704661	worst	silent
chr22:50704661	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50704661	nvar	1
chr22:50704661	var	chr22:50704661:T/C
chr22:50704979	allele_ref	C
chr22:50704979	allele_alt	T
chr22:50704979	seqdb_ref	C
chr22:50704979	snp_fw_seq3	CCG/CTG
chr22:50704979	snp_rv_seq3	CGG/CAG
chr22:50704979	func	silent
chr22:50704979	transcript	NM_002751
chr22:50704979	genomic	.
chr22:50704979	codon	.
chr22:50704979	protein	.
chr22:50704979	worst	silent
chr22:50704979	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50704979	nvar	1
chr22:50704979	var	chr22:50704979:C/T
chr22:50705059	allele_ref	A
chr22:50705059	allele_alt	G
chr22:50705059	seqdb_ref	A
chr22:50705059	snp_fw_seq3	GAC/GGC
chr22:50705059	snp_rv_seq3	GTC/GCC
chr22:50705059	func	intronic
chr22:50705059	transcript	NM_002751
chr22:50705059	genomic	.
chr22:50705059	codon	.
chr22:50705059	protein	.
chr22:50705059	worst	intronic
chr22:50705059	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50705059	nvar	1
chr22:50705059	var	chr22:50705059:A/G
chr22:50705466	allele_ref	A
chr22:50705466	allele_alt	G
chr22:50705466	seqdb_ref	A
chr22:50705466	snp_fw_seq3	CAA/CGA
chr22:50705466	snp_rv_seq3	TTG/TCG
chr22:50705466	func	silent
chr22:50705466	transcript	NM_002751
chr22:50705466	genomic	.
chr22:50705466	codon	.
chr22:50705466	protein	.
chr22:50705466	worst	silent
chr22:50705466	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50705466	nvar	1
chr22:50705466	var	chr22:50705466:A/G
chr22:50705821	allele_ref	G
chr22:50705821	allele_alt	A
chr22:50705821	seqdb_ref	G
chr22:50705821	snp_fw_seq3	GGT/GAT
chr22:50705821	snp_rv_seq3	ACC/ATC
chr22:50705821	func	silent
chr22:50705821	transcript	NM_002751
chr22:50705821	genomic	.
chr22:50705821	codon	.
chr22:50705821	protein	.
chr22:50705821	worst	silent
chr22:50705821	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50705821	nvar	1
chr22:50705821	var	chr22:50705821:G/A
chr22:50714250	allele_ref	C
chr22:50714250	allele_alt	T
chr22:50714250	seqdb_ref	C
chr22:50714250	snp_fw_seq3	TCG/TTG
chr22:50714250	snp_rv_seq3	CGA/CAA
chr22:50714250	func	intronic
chr22:50714250	transcript	NM_012401
chr22:50714250	genomic	.
chr22:50714250	codon	.
chr22:50714250	protein	.
chr22:50714250	worst	intronic
chr22:50714250	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50714250	nvar	1
chr22:50714250	var	chr22:50714250:C/T
chr22:50714289	allele_ref	T
chr22:50714289	allele_alt	C
chr22:50714289	seqdb_ref	T
chr22:50714289	snp_fw_seq3	CTG/CCG
chr22:50714289	snp_rv_seq3	CAG/CGG
chr22:50714289	func	intronic
chr22:50714289	transcript	NM_012401
chr22:50714289	genomic	.
chr22:50714289	codon	.
chr22:50714289	protein	.
chr22:50714289	worst	intronic
chr22:50714289	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50714289	nvar	1
chr22:50714289	var	chr22:50714289:T/C
chr22:50715029	allele_ref	T
chr22:50715029	allele_alt	C
chr22:50715029	seqdb_ref	T
chr22:50715029	snp_fw_seq3	CTG/CCG
chr22:50715029	snp_rv_seq3	CAG/CGG
chr22:50715029	func	intronic
chr22:50715029	transcript	NM_012401
chr22:50715029	genomic	.
chr22:50715029	codon	.
chr22:50715029	protein	.
chr22:50715029	worst	intronic
chr22:50715029	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50715029	nvar	1
chr22:50715029	var	chr22:50715029:T/C
chr22:50715970	allele_ref	G
chr22:50715970	allele_alt	A
chr22:50715970	seqdb_ref	G
chr22:50715970	snp_fw_seq3	TGG/TAG
chr22:50715970	snp_rv_seq3	CCA/CTA
chr22:50715970	func	intronic
chr22:50715970	transcript	NM_012401
chr22:50715970	genomic	.
chr22:50715970	codon	.
chr22:50715970	protein	.
chr22:50715970	worst	intronic
chr22:50715970	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50715970	nvar	1
chr22:50715970	var	chr22:50715970:G/A
chr22:50715973	allele_ref	G
chr22:50715973	allele_alt	T
chr22:50715973	seqdb_ref	G
chr22:50715973	snp_fw_seq3	GGA/GTA
chr22:50715973	snp_rv_seq3	TCC/TAC
chr22:50715973	func	intronic
chr22:50715973	transcript	NM_012401
chr22:50715973	genomic	.
chr22:50715973	codon	.
chr22:50715973	protein	.
chr22:50715973	worst	intronic
chr22:50715973	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50715973	nvar	1
chr22:50715973	var	chr22:50715973:G/T
chr22:50716068	allele_ref	C
chr22:50716068	allele_alt	T
chr22:50716068	seqdb_ref	C
chr22:50716068	snp_fw_seq3	GCG/GTG
chr22:50716068	snp_rv_seq3	CGC/CAC
chr22:50716068	func	silent
chr22:50716068	transcript	NM_012401
chr22:50716068	genomic	.
chr22:50716068	codon	.
chr22:50716068	protein	.
chr22:50716068	worst	silent
chr22:50716068	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50716068	nvar	1
chr22:50716068	var	chr22:50716068:C/T
chr22:50716167	allele_ref	G
chr22:50716167	allele_alt	A
chr22:50716167	seqdb_ref	G
chr22:50716167	snp_fw_seq3	AGC/AAC
chr22:50716167	snp_rv_seq3	GCT/GTT
chr22:50716167	func	silent,splice
chr22:50716167	annot_details	DIST=0,NMD=0,OFPTV=1,EXIN=33,ISEQ=GACTCC,ESEQ=CCATTC,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS33+0C>T
chr22:50716167	transcript	NM_012401,NM_012401
chr22:50716167	genomic	.,.
chr22:50716167	codon	.,.
chr22:50716167	protein	.,.
chr22:50716167	worst	splice
chr22:50716167	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50716167	nvar	1
chr22:50716167	var	chr22:50716167:G/A
chr22:50716492	allele_ref	G
chr22:50716492	allele_alt	A
chr22:50716492	seqdb_ref	G
chr22:50716492	snp_fw_seq3	GGG/GAG
chr22:50716492	snp_rv_seq3	CCC/CTC
chr22:50716492	func	intronic
chr22:50716492	transcript	NM_012401
chr22:50716492	genomic	.
chr22:50716492	codon	.
chr22:50716492	protein	.
chr22:50716492	worst	intronic
chr22:50716492	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50716492	nvar	1
chr22:50716492	var	chr22:50716492:G/A
chr22:50717129	allele_ref	T
chr22:50717129	allele_alt	G
chr22:50717129	seqdb_ref	T
chr22:50717129	snp_fw_seq3	GTG/GGG
chr22:50717129	snp_rv_seq3	CAC/CCC
chr22:50717129	func	intronic,splice
chr22:50717129	annot_details	DIST=4,NMD=0,OFPTV=0,EXIN=29,ISEQ=GACACC,ESEQ=CGGTGA,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS29+4A>C
chr22:50717129	transcript	NM_012401,NM_012401
chr22:50717129	genomic	.,.
chr22:50717129	codon	.,.
chr22:50717129	protein	.,.
chr22:50717129	worst	splice
chr22:50717129	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50717129	nvar	1
chr22:50717129	var	chr22:50717129:T/G
chr22:50717476	allele_ref	C
chr22:50717476	allele_alt	A
chr22:50717476	seqdb_ref	C
chr22:50717476	snp_fw_seq3	GCC/GAC
chr22:50717476	snp_rv_seq3	GGC/GTC
chr22:50717476	func	intronic
chr22:50717476	transcript	NM_012401
chr22:50717476	genomic	.
chr22:50717476	codon	.
chr22:50717476	protein	.
chr22:50717476	worst	intronic
chr22:50717476	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50717476	nvar	1
chr22:50717476	var	chr22:50717476:C/A
chr22:50718101	allele_ref	G
chr22:50718101	allele_alt	A
chr22:50718101	seqdb_ref	G
chr22:50718101	snp_fw_seq3	CGT/CAT
chr22:50718101	snp_rv_seq3	ACG/ATG
chr22:50718101	func	silent
chr22:50718101	transcript	NM_012401
chr22:50718101	genomic	.
chr22:50718101	codon	.
chr22:50718101	protein	.
chr22:50718101	worst	silent
chr22:50718101	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50718101	nvar	1
chr22:50718101	var	chr22:50718101:G/A
chr22:50718397	allele_ref	A
chr22:50718397	allele_alt	G
chr22:50718397	seqdb_ref	A
chr22:50718397	snp_fw_seq3	CAT/CGT
chr22:50718397	snp_rv_seq3	ATG/ACG
chr22:50718397	func	intronic
chr22:50718397	transcript	NM_012401
chr22:50718397	genomic	.
chr22:50718397	codon	.
chr22:50718397	protein	.
chr22:50718397	worst	intronic
chr22:50718397	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50718397	nvar	1
chr22:50718397	var	chr22:50718397:A/G
chr22:50718873	allele_ref	G
chr22:50718873	allele_alt	A
chr22:50718873	seqdb_ref	G
chr22:50718873	snp_fw_seq3	CGG/CAG
chr22:50718873	snp_rv_seq3	CCG/CTG
chr22:50718873	func	intronic
chr22:50718873	transcript	NM_012401
chr22:50718873	genomic	.
chr22:50718873	codon	.
chr22:50718873	protein	.
chr22:50718873	worst	intronic
chr22:50718873	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50718873	nvar	1
chr22:50718873	var	chr22:50718873:G/A
chr22:50718941	allele_ref	C
chr22:50718941	allele_alt	T
chr22:50718941	seqdb_ref	C
chr22:50718941	snp_fw_seq3	TCT/TTT
chr22:50718941	snp_rv_seq3	AGA/AAA
chr22:50718941	func	silent
chr22:50718941	transcript	NM_012401
chr22:50718941	genomic	.
chr22:50718941	codon	.
chr22:50718941	protein	.
chr22:50718941	worst	silent
chr22:50718941	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50718941	nvar	1
chr22:50718941	var	chr22:50718941:C/T
chr22:50719165	allele_ref	T
chr22:50719165	allele_alt	C
chr22:50719165	seqdb_ref	T
chr22:50719165	snp_fw_seq3	CTG/CCG
chr22:50719165	snp_rv_seq3	CAG/CGG
chr22:50719165	func	intronic
chr22:50719165	transcript	NM_012401
chr22:50719165	genomic	.
chr22:50719165	codon	.
chr22:50719165	protein	.
chr22:50719165	worst	intronic
chr22:50719165	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50719165	nvar	1
chr22:50719165	var	chr22:50719165:T/C
chr22:50719251	allele_ref	A
chr22:50719251	allele_alt	G
chr22:50719251	seqdb_ref	A
chr22:50719251	snp_fw_seq3	CAG/CGG
chr22:50719251	snp_rv_seq3	CTG/CCG
chr22:50719251	func	silent
chr22:50719251	transcript	NM_012401
chr22:50719251	genomic	.
chr22:50719251	codon	.
chr22:50719251	protein	.
chr22:50719251	worst	silent
chr22:50719251	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50719251	nvar	1
chr22:50719251	var	chr22:50719251:A/G
chr22:50719484	allele_ref	G
chr22:50719484	allele_alt	A
chr22:50719484	seqdb_ref	G
chr22:50719484	snp_fw_seq3	AGG/AAG
chr22:50719484	snp_rv_seq3	CCT/CTT
chr22:50719484	func	intronic
chr22:50719484	transcript	NM_012401
chr22:50719484	genomic	.
chr22:50719484	codon	.
chr22:50719484	protein	.
chr22:50719484	worst	intronic
chr22:50719484	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50719484	nvar	1
chr22:50719484	var	chr22:50719484:G/A
chr22:50719860	allele_ref	C
chr22:50719860	allele_alt	T
chr22:50719860	seqdb_ref	C
chr22:50719860	snp_fw_seq3	GCG/GTG
chr22:50719860	snp_rv_seq3	CGC/CAC
chr22:50719860	func	silent
chr22:50719860	transcript	NM_012401
chr22:50719860	genomic	.
chr22:50719860	codon	.
chr22:50719860	protein	.
chr22:50719860	worst	silent
chr22:50719860	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50719860	nvar	1
chr22:50719860	var	chr22:50719860:C/T
chr22:50720181	allele_ref	C
chr22:50720181	allele_alt	G
chr22:50720181	seqdb_ref	C
chr22:50720181	snp_fw_seq3	GCG/GGG
chr22:50720181	snp_rv_seq3	CGC/CCC
chr22:50720181	func	intronic
chr22:50720181	transcript	NM_012401
chr22:50720181	genomic	.
chr22:50720181	codon	.
chr22:50720181	protein	.
chr22:50720181	worst	intronic
chr22:50720181	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50720181	nvar	1
chr22:50720181	var	chr22:50720181:C/G
chr22:50720295	allele_ref	G
chr22:50720295	allele_alt	A
chr22:50720295	seqdb_ref	G
chr22:50720295	snp_fw_seq3	TGA/TAA
chr22:50720295	snp_rv_seq3	TCA/TTA
chr22:50720295	func	silent
chr22:50720295	transcript	NM_012401
chr22:50720295	genomic	.
chr22:50720295	codon	.
chr22:50720295	protein	.
chr22:50720295	worst	silent
chr22:50720295	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50720295	nvar	1
chr22:50720295	var	chr22:50720295:G/A
chr22:50720319	allele_ref	G
chr22:50720319	allele_alt	A
chr22:50720319	seqdb_ref	G
chr22:50720319	snp_fw_seq3	CGC/CAC
chr22:50720319	snp_rv_seq3	GCG/GTG
chr22:50720319	func	silent
chr22:50720319	transcript	NM_012401
chr22:50720319	genomic	.
chr22:50720319	codon	.
chr22:50720319	protein	.
chr22:50720319	worst	silent
chr22:50720319	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50720319	nvar	1
chr22:50720319	var	chr22:50720319:G/A
chr22:50720408	allele_ref	C
chr22:50720408	allele_alt	T
chr22:50720408	seqdb_ref	C
chr22:50720408	snp_fw_seq3	TCG/TTG
chr22:50720408	snp_rv_seq3	CGA/CAA
chr22:50720408	func	missense
chr22:50720408	transcript	NM_012401
chr22:50720408	genomic	g.3220C>T
chr22:50720408	codon	c.3220GAG>AAG
chr22:50720408	protein	p.1074E>K
chr22:50720408	worst	missense
chr22:50720408	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50720408	nvar	1
chr22:50720408	var	chr22:50720408:C/T
chr22:50720430	allele_ref	G
chr22:50720430	allele_alt	C
chr22:50720430	seqdb_ref	G
chr22:50720430	snp_fw_seq3	AGG/ACG
chr22:50720430	snp_rv_seq3	CCT/CGT
chr22:50720430	func	silent
chr22:50720430	transcript	NM_012401
chr22:50720430	genomic	.
chr22:50720430	codon	.
chr22:50720430	protein	.
chr22:50720430	worst	silent
chr22:50720430	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50720430	nvar	1
chr22:50720430	var	chr22:50720430:G/C
chr22:50720622	allele_ref	C
chr22:50720622	allele_alt	T
chr22:50720622	seqdb_ref	C
chr22:50720622	snp_fw_seq3	GCT/GTT
chr22:50720622	snp_rv_seq3	AGC/AAC
chr22:50720622	func	silent
chr22:50720622	transcript	NM_012401
chr22:50720622	genomic	.
chr22:50720622	codon	.
chr22:50720622	protein	.
chr22:50720622	worst	silent
chr22:50720622	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50720622	nvar	1
chr22:50720622	var	chr22:50720622:C/T
chr22:50721118	allele_ref	G
chr22:50721118	allele_alt	C
chr22:50721118	seqdb_ref	G
chr22:50721118	snp_fw_seq3	GGG/GCG
chr22:50721118	snp_rv_seq3	CCC/CGC
chr22:50721118	func	intronic
chr22:50721118	transcript	NM_012401
chr22:50721118	genomic	.
chr22:50721118	codon	.
chr22:50721118	protein	.
chr22:50721118	worst	intronic
chr22:50721118	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50721118	nvar	1
chr22:50721118	var	chr22:50721118:G/C
chr22:50721170	allele_ref	C
chr22:50721170	allele_alt	T
chr22:50721170	seqdb_ref	C
chr22:50721170	snp_fw_seq3	TCG/TTG
chr22:50721170	snp_rv_seq3	CGA/CAA
chr22:50721170	func	missense
chr22:50721170	transcript	NM_012401
chr22:50721170	genomic	g.2957C>T
chr22:50721170	codon	c.2957CGA>CAA
chr22:50721170	protein	p.986R>Q
chr22:50721170	worst	missense
chr22:50721170	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50721170	nvar	1
chr22:50721170	var	chr22:50721170:C/T
chr22:50721756	allele_ref	G
chr22:50721756	allele_alt	A
chr22:50721756	seqdb_ref	G
chr22:50721756	snp_fw_seq3	CGG/CAG
chr22:50721756	snp_rv_seq3	CCG/CTG
chr22:50721756	func	intronic
chr22:50721756	transcript	NM_012401
chr22:50721756	genomic	.
chr22:50721756	codon	.
chr22:50721756	protein	.
chr22:50721756	worst	intronic
chr22:50721756	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50721756	nvar	1
chr22:50721756	var	chr22:50721756:G/A
chr22:50721879	allele_ref	C
chr22:50721879	allele_alt	T
chr22:50721879	seqdb_ref	C
chr22:50721879	snp_fw_seq3	GCG/GTG
chr22:50721879	snp_rv_seq3	CGC/CAC
chr22:50721879	func	intronic,splice
chr22:50721879	annot_details	DIST=5,NMD=0,OFPTV=1,EXIN=16,ISEQ=GACCGC,ESEQ=TGCTAG,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS16+5G>A
chr22:50721879	transcript	NM_012401,NM_012401
chr22:50721879	genomic	.,.
chr22:50721879	codon	.,.
chr22:50721879	protein	.,.
chr22:50721879	worst	splice
chr22:50721879	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50721879	nvar	1
chr22:50721879	var	chr22:50721879:C/T
chr22:50722134	allele_ref	T
chr22:50722134	allele_alt	C
chr22:50722134	seqdb_ref	T
chr22:50722134	snp_fw_seq3	ATG/ACG
chr22:50722134	snp_rv_seq3	CAT/CGT
chr22:50722134	func	missense
chr22:50722134	transcript	NM_012401
chr22:50722134	genomic	g.2467T>C
chr22:50722134	codon	c.2467ATC>GTC
chr22:50722134	protein	p.823I>V
chr22:50722134	worst	missense
chr22:50722134	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50722134	nvar	1
chr22:50722134	var	chr22:50722134:T/C
chr22:50722277	allele_ref	C
chr22:50722277	allele_alt	T
chr22:50722277	seqdb_ref	C
chr22:50722277	snp_fw_seq3	GCG/GTG
chr22:50722277	snp_rv_seq3	CGC/CAC
chr22:50722277	func	silent
chr22:50722277	transcript	NM_012401
chr22:50722277	genomic	.
chr22:50722277	codon	.
chr22:50722277	protein	.
chr22:50722277	worst	silent
chr22:50722277	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50722277	nvar	1
chr22:50722277	var	chr22:50722277:C/T
chr22:50722289	allele_ref	G
chr22:50722289	allele_alt	A
chr22:50722289	seqdb_ref	G
chr22:50722289	snp_fw_seq3	CGG/CAG
chr22:50722289	snp_rv_seq3	CCG/CTG
chr22:50722289	func	silent
chr22:50722289	transcript	NM_012401
chr22:50722289	genomic	.
chr22:50722289	codon	.
chr22:50722289	protein	.
chr22:50722289	worst	silent
chr22:50722289	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50722289	nvar	1
chr22:50722289	var	chr22:50722289:G/A
chr22:50722424	allele_ref	G
chr22:50722424	allele_alt	A
chr22:50722424	seqdb_ref	G
chr22:50722424	snp_fw_seq3	CGG/CAG
chr22:50722424	snp_rv_seq3	CCG/CTG
chr22:50722424	func	intronic,splice
chr22:50722424	annot_details	DIST=5,NMD=0,OFPTV=0,EXIN=14,ISEQ=GACGCC,ESEQ=CCCAGT,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS14+5C>T
chr22:50722424	transcript	NM_012401,NM_012401
chr22:50722424	genomic	.,.
chr22:50722424	codon	.,.
chr22:50722424	protein	.,.
chr22:50722424	worst	splice
chr22:50722424	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50722424	nvar	1
chr22:50722424	var	chr22:50722424:G/A
chr22:50724190	allele_ref	G
chr22:50724190	allele_alt	T
chr22:50724190	seqdb_ref	G
chr22:50724190	snp_fw_seq3	TGA/TTA
chr22:50724190	snp_rv_seq3	TCA/TAA
chr22:50724190	func	intronic
chr22:50724190	transcript	NM_012401
chr22:50724190	genomic	.
chr22:50724190	codon	.
chr22:50724190	protein	.
chr22:50724190	worst	intronic
chr22:50724190	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50724190	nvar	1
chr22:50724190	var	chr22:50724190:G/T
chr22:50724206	allele_ref	A
chr22:50724206	allele_alt	G
chr22:50724206	seqdb_ref	A
chr22:50724206	snp_fw_seq3	CAG/CGG
chr22:50724206	snp_rv_seq3	CTG/CCG
chr22:50724206	func	intronic
chr22:50724206	transcript	NM_012401
chr22:50724206	genomic	.
chr22:50724206	codon	.
chr22:50724206	protein	.
chr22:50724206	worst	intronic
chr22:50724206	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50724206	nvar	1
chr22:50724206	var	chr22:50724206:A/G
chr22:50724207	allele_ref	G
chr22:50724207	allele_alt	A
chr22:50724207	seqdb_ref	G
chr22:50724207	snp_fw_seq3	AGC/AAC
chr22:50724207	snp_rv_seq3	GCT/GTT
chr22:50724207	func	intronic
chr22:50724207	transcript	NM_012401
chr22:50724207	genomic	.
chr22:50724207	codon	.
chr22:50724207	protein	.
chr22:50724207	worst	intronic
chr22:50724207	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50724207	nvar	1
chr22:50724207	var	chr22:50724207:G/A
chr22:50724401	allele_ref	G
chr22:50724401	allele_alt	C
chr22:50724401	seqdb_ref	G
chr22:50724401	snp_fw_seq3	AGG/ACG
chr22:50724401	snp_rv_seq3	CCT/CGT
chr22:50724401	func	intronic
chr22:50724401	transcript	NM_012401
chr22:50724401	genomic	.
chr22:50724401	codon	.
chr22:50724401	protein	.
chr22:50724401	worst	intronic
chr22:50724401	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50724401	nvar	1
chr22:50724401	var	chr22:50724401:G/C
chr22:50724731	allele_ref	G
chr22:50724731	allele_alt	T
chr22:50724731	seqdb_ref	G
chr22:50724731	snp_fw_seq3	AGG/ATG
chr22:50724731	snp_rv_seq3	CCT/CAT
chr22:50724731	func	intronic
chr22:50724731	transcript	NM_012401
chr22:50724731	genomic	.
chr22:50724731	codon	.
chr22:50724731	protein	.
chr22:50724731	worst	intronic
chr22:50724731	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50724731	nvar	1
chr22:50724731	var	chr22:50724731:G/T
chr22:50724733	allele_ref	G
chr22:50724733	allele_alt	T
chr22:50724733	seqdb_ref	G
chr22:50724733	snp_fw_seq3	GGG/GTG
chr22:50724733	snp_rv_seq3	CCC/CAC
chr22:50724733	func	intronic
chr22:50724733	transcript	NM_012401
chr22:50724733	genomic	.
chr22:50724733	codon	.
chr22:50724733	protein	.
chr22:50724733	worst	intronic
chr22:50724733	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50724733	nvar	1
chr22:50724733	var	chr22:50724733:G/T
chr22:50725553	allele_ref	T
chr22:50725553	allele_alt	C
chr22:50725553	seqdb_ref	T
chr22:50725553	snp_fw_seq3	GTG/GCG
chr22:50725553	snp_rv_seq3	CAC/CGC
chr22:50725553	func	silent
chr22:50725553	transcript	NM_012401
chr22:50725553	genomic	.
chr22:50725553	codon	.
chr22:50725553	protein	.
chr22:50725553	worst	silent
chr22:50725553	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50725553	nvar	1
chr22:50725553	var	chr22:50725553:T/C
chr22:50726237	allele_ref	G
chr22:50726237	allele_alt	T
chr22:50726237	seqdb_ref	G
chr22:50726237	snp_fw_seq3	GGG/GTG
chr22:50726237	snp_rv_seq3	CCC/CAC
chr22:50726237	func	intronic
chr22:50726237	transcript	NM_012401
chr22:50726237	genomic	.
chr22:50726237	codon	.
chr22:50726237	protein	.
chr22:50726237	worst	intronic
chr22:50726237	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50726237	nvar	1
chr22:50726237	var	chr22:50726237:G/T
chr22:50726240	allele_ref	G
chr22:50726240	allele_alt	A
chr22:50726240	seqdb_ref	G
chr22:50726240	snp_fw_seq3	CGG/CAG
chr22:50726240	snp_rv_seq3	CCG/CTG
chr22:50726240	func	intronic
chr22:50726240	transcript	NM_012401
chr22:50726240	genomic	.
chr22:50726240	codon	.
chr22:50726240	protein	.
chr22:50726240	worst	intronic
chr22:50726240	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50726240	nvar	1
chr22:50726240	var	chr22:50726240:G/A
chr22:50727512	allele_ref	G
chr22:50727512	allele_alt	A
chr22:50727512	seqdb_ref	G
chr22:50727512	snp_fw_seq3	CGC/CAC
chr22:50727512	snp_rv_seq3	GCG/GTG
chr22:50727512	func	silent
chr22:50727512	transcript	NM_012401
chr22:50727512	genomic	.
chr22:50727512	codon	.
chr22:50727512	protein	.
chr22:50727512	worst	silent
chr22:50727512	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50727512	nvar	1
chr22:50727512	var	chr22:50727512:G/A
chr22:50727921	allele_ref	T
chr22:50727921	allele_alt	C
chr22:50727921	seqdb_ref	T
chr22:50727921	snp_fw_seq3	CTG/CCG
chr22:50727921	snp_rv_seq3	CAG/CGG
chr22:50727921	func	intronic
chr22:50727921	transcript	NM_012401
chr22:50727921	genomic	.
chr22:50727921	codon	.
chr22:50727921	protein	.
chr22:50727921	worst	intronic
chr22:50727921	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50727921	nvar	1
chr22:50727921	var	chr22:50727921:T/C
chr22:50728062	allele_ref	T
chr22:50728062	allele_alt	C
chr22:50728062	seqdb_ref	T
chr22:50728062	snp_fw_seq3	TTG/TCG
chr22:50728062	snp_rv_seq3	CAA/CGA
chr22:50728062	func	missense
chr22:50728062	transcript	NM_012401
chr22:50728062	genomic	g.952T>C
chr22:50728062	codon	c.952AAG>GAG
chr22:50728062	protein	p.318K>E
chr22:50728062	worst	missense
chr22:50728062	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50728062	nvar	1
chr22:50728062	var	chr22:50728062:T/C
chr22:50728168	allele_ref	G
chr22:50728168	allele_alt	A
chr22:50728168	seqdb_ref	G
chr22:50728168	snp_fw_seq3	AGG/AAG
chr22:50728168	snp_rv_seq3	CCT/CTT
chr22:50728168	func	silent
chr22:50728168	transcript	NM_012401
chr22:50728168	genomic	.
chr22:50728168	codon	.
chr22:50728168	protein	.
chr22:50728168	worst	silent
chr22:50728168	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50728168	nvar	1
chr22:50728168	var	chr22:50728168:G/A
chr22:50728355	allele_ref	G
chr22:50728355	allele_alt	A
chr22:50728355	seqdb_ref	G
chr22:50728355	snp_fw_seq3	CGC/CAC
chr22:50728355	snp_rv_seq3	GCG/GTG
chr22:50728355	func	missense
chr22:50728355	transcript	NM_012401
chr22:50728355	genomic	g.659G>A
chr22:50728355	codon	c.659GCG>GTG
chr22:50728355	protein	p.220A>V
chr22:50728355	worst	missense
chr22:50728355	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50728355	nvar	1
chr22:50728355	var	chr22:50728355:G/A
chr22:50750879	allele_ref	G
chr22:50750879	allele_alt	A
chr22:50750879	seqdb_ref	G
chr22:50750879	snp_fw_seq3	AGG/AAG
chr22:50750879	snp_rv_seq3	CCT/CTT
chr22:50750879	func	intronic
chr22:50750879	transcript	NM_001001794
chr22:50750879	genomic	.
chr22:50750879	codon	.
chr22:50750879	protein	.
chr22:50750879	worst	intronic
chr22:50750879	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50750879	nvar	1
chr22:50750879	var	chr22:50750879:G/A
chr22:50751529	allele_ref	G
chr22:50751529	allele_alt	C
chr22:50751529	seqdb_ref	G
chr22:50751529	snp_fw_seq3	GGG/GCG
chr22:50751529	snp_rv_seq3	CCC/CGC
chr22:50751529	func	silent
chr22:50751529	transcript	NM_001001794
chr22:50751529	genomic	.
chr22:50751529	codon	.
chr22:50751529	protein	.
chr22:50751529	worst	silent
chr22:50751529	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50751529	nvar	1
chr22:50751529	var	chr22:50751529:G/C
chr22:50752105	allele_ref	G
chr22:50752105	allele_alt	A
chr22:50752105	seqdb_ref	G
chr22:50752105	snp_fw_seq3	CGC/CAC
chr22:50752105	snp_rv_seq3	GCG/GTG
chr22:50752105	func	missense
chr22:50752105	transcript	NM_001001794
chr22:50752105	genomic	g.1252G>A
chr22:50752105	codon	c.1252CGG>TGG
chr22:50752105	protein	p.418R>W
chr22:50752105	worst	missense
chr22:50752105	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50752105	nvar	1
chr22:50752105	var	chr22:50752105:G/A
chr22:50752150	allele_ref	C
chr22:50752150	allele_alt	T
chr22:50752150	seqdb_ref	C
chr22:50752150	snp_fw_seq3	ACG/ATG
chr22:50752150	snp_rv_seq3	CGT/CAT
chr22:50752150	func	splice,missense
chr22:50752150	annot_details	DIST=-3,NMD=0,OFPTV=1,EXIN=15,ISEQ=GACGTC,ESEQ=GTGCGG,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS15+-3G>A
chr22:50752150	transcript	NM_001001794,NM_001001794
chr22:50752150	genomic	.,g.1207C>T
chr22:50752150	codon	.,c.1207GTG>ATG
chr22:50752150	protein	.,p.403V>M
chr22:50752150	worst	missense
chr22:50752150	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50752150	nvar	1
chr22:50752150	var	chr22:50752150:C/T
chr22:50752169	allele_ref	G
chr22:50752169	allele_alt	A
chr22:50752169	seqdb_ref	G
chr22:50752169	snp_fw_seq3	GGG/GAG
chr22:50752169	snp_rv_seq3	CCC/CTC
chr22:50752169	func	intronic
chr22:50752169	transcript	NM_001001794
chr22:50752169	genomic	.
chr22:50752169	codon	.
chr22:50752169	protein	.
chr22:50752169	worst	intronic
chr22:50752169	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50752169	nvar	1
chr22:50752169	var	chr22:50752169:G/A
chr22:50752185	allele_ref	C
chr22:50752185	allele_alt	T
chr22:50752185	seqdb_ref	C
chr22:50752185	snp_fw_seq3	GCG/GTG
chr22:50752185	snp_rv_seq3	CGC/CAC
chr22:50752185	func	intronic
chr22:50752185	transcript	NM_001001794
chr22:50752185	genomic	.
chr22:50752185	codon	.
chr22:50752185	protein	.
chr22:50752185	worst	intronic
chr22:50752185	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50752185	nvar	1
chr22:50752185	var	chr22:50752185:C/T
chr22:50752213	allele_ref	T
chr22:50752213	allele_alt	C
chr22:50752213	seqdb_ref	T
chr22:50752213	snp_fw_seq3	GTC/GCC
chr22:50752213	snp_rv_seq3	GAC/GGC
chr22:50752213	func	intronic
chr22:50752213	transcript	NM_001001794
chr22:50752213	genomic	.
chr22:50752213	codon	.
chr22:50752213	protein	.
chr22:50752213	worst	intronic
chr22:50752213	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50752213	nvar	1
chr22:50752213	var	chr22:50752213:T/C
chr22:50752258	allele_ref	G
chr22:50752258	allele_alt	A
chr22:50752258	seqdb_ref	G
chr22:50752258	snp_fw_seq3	TGA/TAA
chr22:50752258	snp_rv_seq3	TCA/TTA
chr22:50752258	func	silent
chr22:50752258	transcript	NM_001001794
chr22:50752258	genomic	.
chr22:50752258	codon	.
chr22:50752258	protein	.
chr22:50752258	worst	silent
chr22:50752258	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50752258	nvar	1
chr22:50752258	var	chr22:50752258:G/A
chr22:50752784	allele_ref	C
chr22:50752784	allele_alt	T
chr22:50752784	seqdb_ref	C
chr22:50752784	snp_fw_seq3	ACG/ATG
chr22:50752784	snp_rv_seq3	CGT/CAT
chr22:50752784	func	intronic
chr22:50752784	transcript	NM_001001794
chr22:50752784	genomic	.
chr22:50752784	codon	.
chr22:50752784	protein	.
chr22:50752784	worst	intronic
chr22:50752784	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50752784	nvar	1
chr22:50752784	var	chr22:50752784:C/T
chr22:50752968	allele_ref	G
chr22:50752968	allele_alt	A
chr22:50752968	seqdb_ref	G
chr22:50752968	snp_fw_seq3	GGA/GAA
chr22:50752968	snp_rv_seq3	TCC/TTC
chr22:50752968	func	intronic
chr22:50752968	transcript	NM_001001794
chr22:50752968	genomic	.
chr22:50752968	codon	.
chr22:50752968	protein	.
chr22:50752968	worst	intronic
chr22:50752968	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50752968	nvar	1
chr22:50752968	var	chr22:50752968:G/A
chr22:50753334	allele_ref	G
chr22:50753334	allele_alt	A
chr22:50753334	seqdb_ref	G
chr22:50753334	snp_fw_seq3	AGC/AAC
chr22:50753334	snp_rv_seq3	GCT/GTT
chr22:50753334	func	silent
chr22:50753334	transcript	NM_001001794
chr22:50753334	genomic	.
chr22:50753334	codon	.
chr22:50753334	protein	.
chr22:50753334	worst	silent
chr22:50753334	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50753334	nvar	1
chr22:50753334	var	chr22:50753334:G/A
chr22:50754445	allele_ref	A
chr22:50754445	allele_alt	T
chr22:50754445	seqdb_ref	A
chr22:50754445	snp_fw_seq3	CAG/CTG
chr22:50754445	snp_rv_seq3	CTG/CAG
chr22:50754445	func	intronic
chr22:50754445	transcript	NM_001001794
chr22:50754445	genomic	.
chr22:50754445	codon	.
chr22:50754445	protein	.
chr22:50754445	worst	intronic
chr22:50754445	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50754445	nvar	1
chr22:50754445	var	chr22:50754445:A/T
chr22:50754466	allele_ref	C
chr22:50754466	allele_alt	T
chr22:50754466	seqdb_ref	C
chr22:50754466	snp_fw_seq3	ACT/ATT
chr22:50754466	snp_rv_seq3	AGT/AAT
chr22:50754466	func	silent
chr22:50754466	transcript	NM_001001794
chr22:50754466	genomic	.
chr22:50754466	codon	.
chr22:50754466	protein	.
chr22:50754466	worst	silent
chr22:50754466	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50754466	nvar	1
chr22:50754466	var	chr22:50754466:C/T
chr22:50754512	allele_ref	C
chr22:50754512	allele_alt	T
chr22:50754512	seqdb_ref	C
chr22:50754512	snp_fw_seq3	GCG/GTG
chr22:50754512	snp_rv_seq3	CGC/CAC
chr22:50754512	func	splice,missense
chr22:50754512	annot_details	DIST=-4,NMD=0,OFPTV=1,EXIN=8,ISEQ=GACCCT,ESEQ=CGCGTG,SPLICE_TYPE=acceptor,ALT=A,HGVS=c.IVS8+-4G>A
chr22:50754512	transcript	NM_001001794,NM_001001794
chr22:50754512	genomic	.,g.644C>T
chr22:50754512	codon	.,c.644CGC>CAC
chr22:50754512	protein	.,p.215R>H
chr22:50754512	worst	missense
chr22:50754512	class	mixed,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50754512	nvar	1
chr22:50754512	var	chr22:50754512:C/T
chr22:50754648	allele_ref	T
chr22:50754648	allele_alt	C
chr22:50754648	seqdb_ref	T
chr22:50754648	snp_fw_seq3	GTG/GCG
chr22:50754648	snp_rv_seq3	CAC/CGC
chr22:50754648	func	silent
chr22:50754648	transcript	NM_001001794
chr22:50754648	genomic	.
chr22:50754648	codon	.
chr22:50754648	protein	.
chr22:50754648	worst	silent
chr22:50754648	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50754648	nvar	1
chr22:50754648	var	chr22:50754648:T/C
chr22:50754772	allele_ref	C
chr22:50754772	allele_alt	T
chr22:50754772	seqdb_ref	C
chr22:50754772	snp_fw_seq3	ACG/ATG
chr22:50754772	snp_rv_seq3	CGT/CAT
chr22:50754772	func	intronic
chr22:50754772	transcript	NM_001001794
chr22:50754772	genomic	.
chr22:50754772	codon	.
chr22:50754772	protein	.
chr22:50754772	worst	intronic
chr22:50754772	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50754772	nvar	1
chr22:50754772	var	chr22:50754772:C/T
chr22:50756452	allele_ref	A
chr22:50756452	allele_alt	G
chr22:50756452	seqdb_ref	A
chr22:50756452	snp_fw_seq3	TAA/TGA
chr22:50756452	snp_rv_seq3	TTA/TCA
chr22:50756452	func	intronic,splice
chr22:50756452	annot_details	DIST=3,NMD=0,OFPTV=0,EXIN=4,ISEQ=GATTCT,ESEQ=CCGTCG,SPLICE_TYPE=acceptor,ALT=C,HGVS=c.IVS4+3T>C
chr22:50756452	transcript	NM_001001794,NM_001001794
chr22:50756452	genomic	.,.
chr22:50756452	codon	.,.
chr22:50756452	protein	.,.
chr22:50756452	worst	splice
chr22:50756452	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50756452	nvar	1
chr22:50756452	var	chr22:50756452:A/G
chr22:50757348	allele_ref	G
chr22:50757348	allele_alt	A
chr22:50757348	seqdb_ref	G
chr22:50757348	snp_fw_seq3	CGA/CAA
chr22:50757348	snp_rv_seq3	TCG/TTG
chr22:50757348	func	intronic
chr22:50757348	transcript	NM_001001794
chr22:50757348	genomic	.
chr22:50757348	codon	.
chr22:50757348	protein	.
chr22:50757348	worst	intronic
chr22:50757348	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50757348	nvar	1
chr22:50757348	var	chr22:50757348:G/A
chr22:50757470	allele_ref	T
chr22:50757470	allele_alt	C
chr22:50757470	seqdb_ref	T
chr22:50757470	snp_fw_seq3	GTC/GCC
chr22:50757470	snp_rv_seq3	GAC/GGC
chr22:50757470	func	intronic
chr22:50757470	transcript	NM_001001794
chr22:50757470	genomic	.
chr22:50757470	codon	.
chr22:50757470	protein	.
chr22:50757470	worst	intronic
chr22:50757470	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50757470	nvar	1
chr22:50757470	var	chr22:50757470:T/C
chr22:50853095	allele_ref	G
chr22:50853095	allele_alt	A
chr22:50853095	seqdb_ref	G
chr22:50853095	snp_fw_seq3	CGG/CAG
chr22:50853095	snp_rv_seq3	CCG/CTG
chr22:50853095	func	missense,missense,missense,missense
chr22:50853095	transcript	NM_001242898,NM_001242899,NM_001242900,NM_014678
chr22:50853095	genomic	g.529G>A,g.529G>A,g.529G>A,g.529G>A
chr22:50853095	codon	c.529GGG>AGG,c.529GGG>AGG,c.529GGG>AGG,c.529GGG>AGG
chr22:50853095	protein	p.177G>R,p.177G>R,p.177G>R,p.177G>R
chr22:50853095	worst	missense
chr22:50853095	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50853095	nvar	1
chr22:50853095	var	chr22:50853095:G/A
chr22:50854604	allele_ref	C
chr22:50854604	allele_alt	T
chr22:50854604	seqdb_ref	C
chr22:50854604	snp_fw_seq3	CCG/CTG
chr22:50854604	snp_rv_seq3	CGG/CAG
chr22:50854604	func	intronic,intronic,intronic,intronic
chr22:50854604	transcript	NM_001242898,NM_001242899,NM_001242900,NM_014678
chr22:50854604	genomic	.,.,.,.
chr22:50854604	codon	.,.,.,.
chr22:50854604	protein	.,.,.,.
chr22:50854604	worst	intronic
chr22:50854604	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50854604	nvar	1
chr22:50854604	var	chr22:50854604:C/T
chr22:50869692	allele_ref	G
chr22:50869692	allele_alt	C
chr22:50869692	seqdb_ref	G
chr22:50869692	snp_fw_seq3	GGA/GCA
chr22:50869692	snp_rv_seq3	TCC/TGC
chr22:50869692	func	missense,missense,missense,missense
chr22:50869692	transcript	NM_001242898,NM_001242899,NM_001242900,NM_014678
chr22:50869692	genomic	g.1216G>C,g.1219G>C,g.1216G>C,g.1216G>C
chr22:50869692	codon	c.1216GAG>CAG,c.1219GAG>CAG,c.1216GAG>CAG,c.1216GAG>CAG
chr22:50869692	protein	p.406E>Q,p.407E>Q,p.406E>Q,p.406E>Q
chr22:50869692	worst	missense
chr22:50869692	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50869692	nvar	1
chr22:50869692	var	chr22:50869692:G/C
chr22:50873546	allele_ref	C
chr22:50873546	allele_alt	T
chr22:50873546	seqdb_ref	C
chr22:50873546	snp_fw_seq3	GCG/GTG
chr22:50873546	snp_rv_seq3	CGC/CAC
chr22:50873546	func	intronic,intronic,intronic,intronic
chr22:50873546	transcript	NM_001242898,NM_001242899,NM_001242900,NM_014678
chr22:50873546	genomic	.,.,.,.
chr22:50873546	codon	.,.,.,.
chr22:50873546	protein	.,.,.,.
chr22:50873546	worst	intronic
chr22:50873546	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50873546	nvar	1
chr22:50873546	var	chr22:50873546:C/T
chr22:50873557	allele_ref	A
chr22:50873557	allele_alt	G
chr22:50873557	seqdb_ref	A
chr22:50873557	snp_fw_seq3	GAC/GGC
chr22:50873557	snp_rv_seq3	GTC/GCC
chr22:50873557	func	intronic,intronic,intronic,intronic
chr22:50873557	transcript	NM_001242898,NM_001242899,NM_001242900,NM_014678
chr22:50873557	genomic	.,.,.,.
chr22:50873557	codon	.,.,.,.
chr22:50873557	protein	.,.,.,.
chr22:50873557	worst	intronic
chr22:50873557	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50873557	nvar	1
chr22:50873557	var	chr22:50873557:A/G
chr22:50874893	allele_ref	C
chr22:50874893	allele_alt	T
chr22:50874893	seqdb_ref	C
chr22:50874893	snp_fw_seq3	TCG/TTG
chr22:50874893	snp_rv_seq3	CGA/CAA
chr22:50874893	func	intronic,intronic,intronic,intronic
chr22:50874893	transcript	NM_001242898,NM_001242899,NM_001242900,NM_014678
chr22:50874893	genomic	.,.,.,.
chr22:50874893	codon	.,.,.,.
chr22:50874893	protein	.,.,.,.
chr22:50874893	worst	intronic
chr22:50874893	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50874893	nvar	1
chr22:50874893	var	chr22:50874893:C/T
chr22:50874918	allele_ref	C
chr22:50874918	allele_alt	T
chr22:50874918	seqdb_ref	C
chr22:50874918	snp_fw_seq3	ACG/ATG
chr22:50874918	snp_rv_seq3	CGT/CAT
chr22:50874918	func	intronic,intronic,intronic,intronic
chr22:50874918	transcript	NM_001242898,NM_001242899,NM_001242900,NM_014678
chr22:50874918	genomic	.,.,.,.
chr22:50874918	codon	.,.,.,.
chr22:50874918	protein	.,.,.,.
chr22:50874918	worst	intronic
chr22:50874918	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50874918	nvar	1
chr22:50874918	var	chr22:50874918:C/T
chr22:50876077	allele_ref	T
chr22:50876077	allele_alt	C
chr22:50876077	seqdb_ref	T
chr22:50876077	snp_fw_seq3	CTG/CCG
chr22:50876077	snp_rv_seq3	CAG/CGG
chr22:50876077	func	intronic,intronic,intronic,intronic
chr22:50876077	transcript	NM_001242898,NM_001242899,NM_001242900,NM_014678
chr22:50876077	genomic	.,.,.,.
chr22:50876077	codon	.,.,.,.
chr22:50876077	protein	.,.,.,.
chr22:50876077	worst	intronic
chr22:50876077	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50876077	nvar	1
chr22:50876077	var	chr22:50876077:T/C
chr22:50876235	allele_ref	T
chr22:50876235	allele_alt	C
chr22:50876235	seqdb_ref	T
chr22:50876235	snp_fw_seq3	CTG/CCG
chr22:50876235	snp_rv_seq3	CAG/CGG
chr22:50876235	func	intronic,intronic,intronic,intronic
chr22:50876235	transcript	NM_001242898,NM_001242899,NM_001242900,NM_014678
chr22:50876235	genomic	.,.,.,.
chr22:50876235	codon	.,.,.,.
chr22:50876235	protein	.,.,.,.
chr22:50876235	worst	intronic
chr22:50876235	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50876235	nvar	1
chr22:50876235	var	chr22:50876235:T/C
chr22:50876357	allele_ref	C
chr22:50876357	allele_alt	G
chr22:50876357	seqdb_ref	C
chr22:50876357	snp_fw_seq3	CCG/CGG
chr22:50876357	snp_rv_seq3	CGG/CCG
chr22:50876357	func	intronic,intronic,intronic,intronic
chr22:50876357	transcript	NM_001242898,NM_001242899,NM_001242900,NM_014678
chr22:50876357	genomic	.,.,.,.
chr22:50876357	codon	.,.,.,.
chr22:50876357	protein	.,.,.,.
chr22:50876357	worst	intronic
chr22:50876357	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50876357	nvar	1
chr22:50876357	var	chr22:50876357:C/G
chr22:50876662	allele_ref	T
chr22:50876662	allele_alt	G
chr22:50876662	seqdb_ref	T
chr22:50876662	snp_fw_seq3	ATG/AGG
chr22:50876662	snp_rv_seq3	CAT/CCT
chr22:50876662	func	missense,missense,missense,missense
chr22:50876662	transcript	NM_001242898,NM_001242899,NM_001242900,NM_014678
chr22:50876662	genomic	g.1899T>G,g.1821T>G,g.1818T>G,g.1818T>G
chr22:50876662	codon	c.1899GAT>GAG,c.1821GAT>GAG,c.1818GAT>GAG,c.1818GAT>GAG
chr22:50876662	protein	p.633D>E,p.607D>E,p.606D>E,p.606D>E
chr22:50876662	worst	missense
chr22:50876662	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50876662	nvar	1
chr22:50876662	var	chr22:50876662:T/G
chr22:50876775	allele_ref	C
chr22:50876775	allele_alt	T
chr22:50876775	seqdb_ref	C
chr22:50876775	snp_fw_seq3	GCC/GTC
chr22:50876775	snp_rv_seq3	GGC/GAC
chr22:50876775	func	intronic,intronic,intronic,intronic
chr22:50876775	transcript	NM_001242898,NM_001242899,NM_001242900,NM_014678
chr22:50876775	genomic	.,.,.,.
chr22:50876775	codon	.,.,.,.
chr22:50876775	protein	.,.,.,.
chr22:50876775	worst	intronic
chr22:50876775	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50876775	nvar	1
chr22:50876775	var	chr22:50876775:C/T
chr22:50877166	allele_ref	G
chr22:50877166	allele_alt	C
chr22:50877166	seqdb_ref	G
chr22:50877166	snp_fw_seq3	CGC/CCC
chr22:50877166	snp_rv_seq3	GCG/GGG
chr22:50877166	func	silent,silent,silent,silent
chr22:50877166	transcript	NM_001242898,NM_001242899,NM_001242900,NM_014678
chr22:50877166	genomic	.,.,.,.
chr22:50877166	codon	.,.,.,.
chr22:50877166	protein	.,.,.,.
chr22:50877166	worst	silent
chr22:50877166	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50877166	nvar	1
chr22:50877166	var	chr22:50877166:G/C
chr22:50877203	allele_ref	C
chr22:50877203	allele_alt	T
chr22:50877203	seqdb_ref	C
chr22:50877203	snp_fw_seq3	GCG/GTG
chr22:50877203	snp_rv_seq3	CGC/CAC
chr22:50877203	func	intronic,intronic,intronic,intronic
chr22:50877203	transcript	NM_001242898,NM_001242899,NM_001242900,NM_014678
chr22:50877203	genomic	.,.,.,.
chr22:50877203	codon	.,.,.,.
chr22:50877203	protein	.,.,.,.
chr22:50877203	worst	intronic
chr22:50877203	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50877203	nvar	1
chr22:50877203	var	chr22:50877203:C/T
chr22:50878183	allele_ref	C
chr22:50878183	allele_alt	G
chr22:50878183	seqdb_ref	C
chr22:50878183	snp_fw_seq3	CCC/CGC
chr22:50878183	snp_rv_seq3	GGG/GCG
chr22:50878183	func	missense,missense,missense,missense
chr22:50878183	transcript	NM_001242898,NM_001242899,NM_001242900,NM_014678
chr22:50878183	genomic	g.2182C>G,g.2104C>G,g.2104C>G,g.2101C>G
chr22:50878183	codon	c.2182CCA>GCA,c.2104CCA>GCA,c.2104CCA>GCA,c.2101CCA>GCA
chr22:50878183	protein	p.728P>A,p.702P>A,p.702P>A,p.701P>A
chr22:50878183	worst	missense
chr22:50878183	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50878183	nvar	1
chr22:50878183	var	chr22:50878183:C/G
chr22:50878196	allele_ref	G
chr22:50878196	allele_alt	A
chr22:50878196	seqdb_ref	G
chr22:50878196	snp_fw_seq3	AGG/AAG
chr22:50878196	snp_rv_seq3	CCT/CTT
chr22:50878196	func	missense,missense,missense,missense
chr22:50878196	transcript	NM_001242898,NM_001242899,NM_001242900,NM_014678
chr22:50878196	genomic	g.2195G>A,g.2117G>A,g.2117G>A,g.2114G>A
chr22:50878196	codon	c.2195AGG>AAG,c.2117AGG>AAG,c.2117AGG>AAG,c.2114AGG>AAG
chr22:50878196	protein	p.732R>K,p.706R>K,p.706R>K,p.705R>K
chr22:50878196	worst	missense
chr22:50878196	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50878196	nvar	1
chr22:50878196	var	chr22:50878196:G/A
chr22:50878441	allele_ref	T
chr22:50878441	allele_alt	C
chr22:50878441	seqdb_ref	T
chr22:50878441	snp_fw_seq3	ATG/ACG
chr22:50878441	snp_rv_seq3	CAT/CGT
chr22:50878441	func	silent,silent,silent,silent
chr22:50878441	transcript	NM_001242898,NM_001242899,NM_001242900,NM_014678
chr22:50878441	genomic	.,.,.,.
chr22:50878441	codon	.,.,.,.
chr22:50878441	protein	.,.,.,.
chr22:50878441	worst	silent
chr22:50878441	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50878441	nvar	1
chr22:50878441	var	chr22:50878441:T/C
chr22:50879447	allele_ref	T
chr22:50879447	allele_alt	G
chr22:50879447	seqdb_ref	T
chr22:50879447	snp_fw_seq3	CTG/CGG
chr22:50879447	snp_rv_seq3	CAG/CCG
chr22:50879447	func	silent,silent,silent,silent
chr22:50879447	transcript	NM_001242898,NM_001242899,NM_001242900,NM_014678
chr22:50879447	genomic	.,.,.,.
chr22:50879447	codon	.,.,.,.
chr22:50879447	protein	.,.,.,.
chr22:50879447	worst	silent
chr22:50879447	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50879447	nvar	1
chr22:50879447	var	chr22:50879447:T/G
chr22:50879486	allele_ref	C
chr22:50879486	allele_alt	T
chr22:50879486	seqdb_ref	C
chr22:50879486	snp_fw_seq3	CCG/CTG
chr22:50879486	snp_rv_seq3	CGG/CAG
chr22:50879486	func	intronic,intronic,intronic,intronic
chr22:50879486	transcript	NM_001242898,NM_001242899,NM_001242900,NM_014678
chr22:50879486	genomic	.,.,.,.
chr22:50879486	codon	.,.,.,.
chr22:50879486	protein	.,.,.,.
chr22:50879486	worst	intronic
chr22:50879486	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50879486	nvar	1
chr22:50879486	var	chr22:50879486:C/T
chr22:50882317	allele_ref	C
chr22:50882317	allele_alt	A
chr22:50882317	seqdb_ref	C
chr22:50882317	snp_fw_seq3	GCT/GAT
chr22:50882317	snp_rv_seq3	AGC/ATC
chr22:50882317	func	missense,missense,missense,missense
chr22:50882317	transcript	NM_001242898,NM_001242899,NM_001242900,NM_014678
chr22:50882317	genomic	g.2602C>A,g.2524C>A,g.2524C>A,g.2521C>A
chr22:50882317	codon	c.2602CTG>ATG,c.2524CTG>ATG,c.2524CTG>ATG,c.2521CTG>ATG
chr22:50882317	protein	p.868L>M,p.842L>M,p.842L>M,p.841L>M
chr22:50882317	worst	missense
chr22:50882317	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50882317	nvar	1
chr22:50882317	var	chr22:50882317:C/A
chr22:50882323	allele_ref	A
chr22:50882323	allele_alt	C
chr22:50882323	seqdb_ref	A
chr22:50882323	snp_fw_seq3	AAG/ACG
chr22:50882323	snp_rv_seq3	CTT/CGT
chr22:50882323	func	missense,missense,missense,missense
chr22:50882323	transcript	NM_001242898,NM_001242899,NM_001242900,NM_014678
chr22:50882323	genomic	g.2608A>C,g.2530A>C,g.2530A>C,g.2527A>C
chr22:50882323	codon	c.2608AGC>CGC,c.2530AGC>CGC,c.2530AGC>CGC,c.2527AGC>CGC
chr22:50882323	protein	p.870S>R,p.844S>R,p.844S>R,p.843S>R
chr22:50882323	worst	missense
chr22:50882323	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50882323	nvar	1
chr22:50882323	var	chr22:50882323:A/C
chr22:50882590	allele_ref	G
chr22:50882590	allele_alt	A
chr22:50882590	seqdb_ref	G
chr22:50882590	snp_fw_seq3	CGC/CAC
chr22:50882590	snp_rv_seq3	GCG/GTG
chr22:50882590	func	intronic,intronic,intronic,intronic
chr22:50882590	transcript	NM_001242898,NM_001242899,NM_001242900,NM_014678
chr22:50882590	genomic	.,.,.,.
chr22:50882590	codon	.,.,.,.
chr22:50882590	protein	.,.,.,.
chr22:50882590	worst	intronic
chr22:50882590	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50882590	nvar	1
chr22:50882590	var	chr22:50882590:G/A
chr22:50921132	allele_ref	C
chr22:50921132	allele_alt	A
chr22:50921132	seqdb_ref	C
chr22:50921132	snp_fw_seq3	CCG/CAG
chr22:50921132	snp_rv_seq3	CGG/CTG
chr22:50921132	func	silent,silent
chr22:50921132	transcript	NM_001253845,NM_024866
chr22:50921132	genomic	.,.
chr22:50921132	codon	.,.
chr22:50921132	protein	.,.
chr22:50921132	worst	silent
chr22:50921132	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50921132	nvar	1
chr22:50921132	var	chr22:50921132:C/A
chr22:50925771	allele_ref	G
chr22:50925771	allele_alt	A
chr22:50925771	seqdb_ref	G
chr22:50925771	snp_fw_seq3	AGC/AAC
chr22:50925771	snp_rv_seq3	GCT/GTT
chr22:50925771	func	intronic
chr22:50925771	transcript	NM_017584
chr22:50925771	genomic	.
chr22:50925771	codon	.
chr22:50925771	protein	.
chr22:50925771	worst	intronic
chr22:50925771	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50925771	nvar	1
chr22:50925771	var	chr22:50925771:G/A
chr22:50926082	allele_ref	G
chr22:50926082	allele_alt	A
chr22:50926082	seqdb_ref	G
chr22:50926082	snp_fw_seq3	CGG/CAG
chr22:50926082	snp_rv_seq3	CCG/CTG
chr22:50926082	func	intronic
chr22:50926082	transcript	NM_017584
chr22:50926082	genomic	.
chr22:50926082	codon	.
chr22:50926082	protein	.
chr22:50926082	worst	intronic
chr22:50926082	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50926082	nvar	1
chr22:50926082	var	chr22:50926082:G/A
chr22:50926181	allele_ref	T
chr22:50926181	allele_alt	G
chr22:50926181	seqdb_ref	T
chr22:50926181	snp_fw_seq3	TTC/TGC
chr22:50926181	snp_rv_seq3	GAA/GCA
chr22:50926181	func	intronic
chr22:50926181	transcript	NM_017584
chr22:50926181	genomic	.
chr22:50926181	codon	.
chr22:50926181	protein	.
chr22:50926181	worst	intronic
chr22:50926181	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50926181	nvar	1
chr22:50926181	var	chr22:50926181:T/G
chr22:50926192	allele_ref	C
chr22:50926192	allele_alt	T
chr22:50926192	seqdb_ref	C
chr22:50926192	snp_fw_seq3	CCG/CTG
chr22:50926192	snp_rv_seq3	CGG/CAG
chr22:50926192	func	intronic
chr22:50926192	transcript	NM_017584
chr22:50926192	genomic	.
chr22:50926192	codon	.
chr22:50926192	protein	.
chr22:50926192	worst	intronic
chr22:50926192	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50926192	nvar	1
chr22:50926192	var	chr22:50926192:C/T
chr22:50926768	allele_ref	C
chr22:50926768	allele_alt	T
chr22:50926768	seqdb_ref	C
chr22:50926768	snp_fw_seq3	CCC/CTC
chr22:50926768	snp_rv_seq3	GGG/GAG
chr22:50926768	func	silent,splice
chr22:50926768	annot_details	DIST=-3,NMD=0,OFPTV=1,EXIN=5,ISEQ=GTAAGA,ESEQ=CCCCAG,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS5+-3C>T
chr22:50926768	transcript	NM_017584,NM_017584
chr22:50926768	genomic	.,.
chr22:50926768	codon	.,.
chr22:50926768	protein	.,.
chr22:50926768	worst	splice
chr22:50926768	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50926768	nvar	1
chr22:50926768	var	chr22:50926768:C/T
chr22:50927545	allele_ref	A
chr22:50927545	allele_alt	T
chr22:50927545	seqdb_ref	A
chr22:50927545	snp_fw_seq3	CAG/CTG
chr22:50927545	snp_rv_seq3	CTG/CAG
chr22:50927545	func	missense
chr22:50927545	transcript	NM_017584
chr22:50927545	genomic	g.485A>T
chr22:50927545	codon	c.485CAG>CTG
chr22:50927545	protein	p.162Q>L
chr22:50927545	worst	missense
chr22:50927545	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50927545	nvar	1
chr22:50927545	var	chr22:50927545:A/T
chr22:50927618	allele_ref	C
chr22:50927618	allele_alt	T
chr22:50927618	seqdb_ref	C
chr22:50927618	snp_fw_seq3	GCG/GTG
chr22:50927618	snp_rv_seq3	CGC/CAC
chr22:50927618	func	intronic
chr22:50927618	transcript	NM_017584
chr22:50927618	genomic	.
chr22:50927618	codon	.
chr22:50927618	protein	.
chr22:50927618	worst	intronic
chr22:50927618	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50927618	nvar	1
chr22:50927618	var	chr22:50927618:C/T
chr22:50927779	allele_ref	G
chr22:50927779	allele_alt	A
chr22:50927779	seqdb_ref	g
chr22:50927779	snp_fw_seq3	ggc/gAc
chr22:50927779	snp_rv_seq3	gcc/gTc
chr22:50927779	func	intronic
chr22:50927779	transcript	NM_017584
chr22:50927779	genomic	.
chr22:50927779	codon	.
chr22:50927779	protein	.
chr22:50927779	worst	intronic
chr22:50927779	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50927779	nvar	1
chr22:50927779	var	chr22:50927779:G/A
chr22:50928005	allele_ref	G
chr22:50928005	allele_alt	A
chr22:50928005	seqdb_ref	G
chr22:50928005	snp_fw_seq3	CGG/CAG
chr22:50928005	snp_rv_seq3	CCG/CTG
chr22:50928005	func	silent
chr22:50928005	transcript	NM_017584
chr22:50928005	genomic	.
chr22:50928005	codon	.
chr22:50928005	protein	.
chr22:50928005	worst	silent
chr22:50928005	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50928005	nvar	1
chr22:50928005	var	chr22:50928005:G/A
chr22:50928010	allele_ref	G
chr22:50928010	allele_alt	A
chr22:50928010	seqdb_ref	G
chr22:50928010	snp_fw_seq3	CGC/CAC
chr22:50928010	snp_rv_seq3	GCG/GTG
chr22:50928010	func	missense
chr22:50928010	transcript	NM_017584
chr22:50928010	genomic	g.686G>A
chr22:50928010	codon	c.686CGC>CAC
chr22:50928010	protein	p.229R>H
chr22:50928010	worst	missense
chr22:50928010	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50928010	nvar	1
chr22:50928010	var	chr22:50928010:G/A
chr22:50928026	allele_ref	G
chr22:50928026	allele_alt	A
chr22:50928026	seqdb_ref	G
chr22:50928026	snp_fw_seq3	TGT/TAT
chr22:50928026	snp_rv_seq3	ACA/ATA
chr22:50928026	func	silent
chr22:50928026	transcript	NM_017584
chr22:50928026	genomic	.
chr22:50928026	codon	.
chr22:50928026	protein	.
chr22:50928026	worst	silent
chr22:50928026	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50928026	nvar	1
chr22:50928026	var	chr22:50928026:G/A
chr22:50928331	allele_ref	G
chr22:50928331	allele_alt	A
chr22:50928331	seqdb_ref	G
chr22:50928331	snp_fw_seq3	CGC/CAC
chr22:50928331	snp_rv_seq3	GCG/GTG
chr22:50928331	func	3-UTR
chr22:50928331	transcript	NM_017584
chr22:50928331	genomic	.
chr22:50928331	codon	.
chr22:50928331	protein	.
chr22:50928331	worst	UTR3
chr22:50928331	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:50928331	nvar	1
chr22:50928331	var	chr22:50928331:G/A
chr22:50956723	allele_ref	C
chr22:50956723	allele_alt	T
chr22:50956723	seqdb_ref	C
chr22:50956723	snp_fw_seq3	GCG/GTG
chr22:50956723	snp_rv_seq3	CGC/CAC
chr22:50956723	func	intronic,intronic,intronic
chr22:50956723	transcript	NM_001185011,NM_014551,NM_152299
chr22:50956723	genomic	.,.,.
chr22:50956723	codon	.,.,.
chr22:50956723	protein	.,.,.
chr22:50956723	worst	intronic
chr22:50956723	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50956723	nvar	1
chr22:50956723	var	chr22:50956723:C/T
chr22:50957115	allele_ref	C
chr22:50957115	allele_alt	T
chr22:50957115	seqdb_ref	C
chr22:50957115	snp_fw_seq3	CCG/CTG
chr22:50957115	snp_rv_seq3	CGG/CAG
chr22:50957115	func	silent,silent,silent
chr22:50957115	transcript	NM_001185011,NM_014551,NM_152299
chr22:50957115	genomic	.,.,.
chr22:50957115	codon	.,.,.
chr22:50957115	protein	.,.,.
chr22:50957115	worst	silent
chr22:50957115	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50957115	nvar	1
chr22:50957115	var	chr22:50957115:C/T
chr22:50957183	allele_ref	G
chr22:50957183	allele_alt	A
chr22:50957183	seqdb_ref	G
chr22:50957183	snp_fw_seq3	TGG/TAG
chr22:50957183	snp_rv_seq3	CCA/CTA
chr22:50957183	func	intronic,intronic,intronic
chr22:50957183	transcript	NM_001185011,NM_014551,NM_152299
chr22:50957183	genomic	.,.,.
chr22:50957183	codon	.,.,.
chr22:50957183	protein	.,.,.
chr22:50957183	worst	intronic
chr22:50957183	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50957183	nvar	1
chr22:50957183	var	chr22:50957183:G/A
chr22:50957625	allele_ref	C
chr22:50957625	allele_alt	G
chr22:50957625	seqdb_ref	C
chr22:50957625	snp_fw_seq3	TCT/TGT
chr22:50957625	snp_rv_seq3	AGA/ACA
chr22:50957625	func	missense,missense,missense
chr22:50957625	transcript	NM_001185011,NM_014551,NM_152299
chr22:50957625	genomic	g.737C>G,g.737C>G,g.737C>G
chr22:50957625	codon	c.737TCT>TGT,c.737TCT>TGT,c.737TCT>TGT
chr22:50957625	protein	p.246S>C,p.246S>C,p.246S>C
chr22:50957625	worst	missense
chr22:50957625	class	missense,NON=0,SL=0,MIS=3,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50957625	nvar	1
chr22:50957625	var	chr22:50957625:C/G
chr22:50957827	allele_ref	A
chr22:50957827	allele_alt	G
chr22:50957827	seqdb_ref	A
chr22:50957827	snp_fw_seq3	CAA/CGA
chr22:50957827	snp_rv_seq3	TTG/TCG
chr22:50957827	func	intronic,3-UTR,intronic
chr22:50957827	transcript	NM_001185011,NM_014551,NM_152299
chr22:50957827	genomic	.,.,.
chr22:50957827	codon	.,.,.
chr22:50957827	protein	.,.,.
chr22:50957827	worst	UTR3
chr22:50957827	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=1,npcRNA=0
chr22:50957827	nvar	1
chr22:50957827	var	chr22:50957827:A/G
chr22:50960682	allele_ref	C
chr22:50960682	allele_alt	T
chr22:50960682	seqdb_ref	C
chr22:50960682	snp_fw_seq3	GCA/GTA
chr22:50960682	snp_rv_seq3	TGC/TAC
chr22:50960682	func	intronic,splice,intronic,splice
chr22:50960682	annot_details	DIST=2,NMD=0,OFPTV=1,EXIN=14,ISEQ=GCAAGT,ESEQ=AGGGAG,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS14+2C>T,DIST=2,NMD=0,OFPTV=1,EXIN=14,ISEQ=GCAAGT,ESEQ=AGGGAG,SPLICE_TYPE=donor,ALT=T,HGVS=c.IVS14+2C>T
chr22:50960682	transcript	NM_001185011,NM_001185011,NM_152299,NM_152299
chr22:50960682	genomic	.,.,.,.
chr22:50960682	codon	.,.,.,.
chr22:50960682	protein	.,.,.,.
chr22:50960682	worst	splice
chr22:50960682	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=2,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50960682	nvar	1
chr22:50960682	var	chr22:50960682:C/T
chr22:50960694	allele_ref	G
chr22:50960694	allele_alt	C
chr22:50960694	seqdb_ref	G
chr22:50960694	snp_fw_seq3	TGG/TCG
chr22:50960694	snp_rv_seq3	CCA/CGA
chr22:50960694	func	intronic,intronic
chr22:50960694	transcript	NM_001185011,NM_152299
chr22:50960694	genomic	.,.
chr22:50960694	codon	.,.
chr22:50960694	protein	.,.
chr22:50960694	worst	intronic
chr22:50960694	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50960694	nvar	1
chr22:50960694	var	chr22:50960694:G/C
chr22:50960791	allele_ref	G
chr22:50960791	allele_alt	A
chr22:50960791	seqdb_ref	G
chr22:50960791	snp_fw_seq3	CGG/CAG
chr22:50960791	snp_rv_seq3	CCG/CTG
chr22:50960791	func	missense,missense
chr22:50960791	transcript	NM_001185011,NM_152299
chr22:50960791	genomic	g.1253G>A,g.1253G>A
chr22:50960791	codon	c.1253CGG>CAG,c.1253CGG>CAG
chr22:50960791	protein	p.418R>Q,p.418R>Q
chr22:50960791	worst	missense
chr22:50960791	class	missense,NON=0,SL=0,MIS=2,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50960791	nvar	1
chr22:50960791	var	chr22:50960791:G/A
chr22:50960988	allele_ref	C
chr22:50960988	allele_alt	T
chr22:50960988	seqdb_ref	C
chr22:50960988	snp_fw_seq3	CCG/CTG
chr22:50960988	snp_rv_seq3	CGG/CAG
chr22:50960988	func	silent,silent
chr22:50960988	transcript	NM_001185011,NM_152299
chr22:50960988	genomic	.,.
chr22:50960988	codon	.,.
chr22:50960988	protein	.,.
chr22:50960988	worst	silent
chr22:50960988	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50960988	nvar	1
chr22:50960988	var	chr22:50960988:C/T
chr22:50961169	allele_ref	A
chr22:50961169	allele_alt	G
chr22:50961169	seqdb_ref	A
chr22:50961169	snp_fw_seq3	GAG/GGG
chr22:50961169	snp_rv_seq3	CTC/CCC
chr22:50961169	func	intronic,intronic
chr22:50961169	transcript	NM_001185011,NM_152299
chr22:50961169	genomic	.,.
chr22:50961169	codon	.,.
chr22:50961169	protein	.,.
chr22:50961169	worst	intronic
chr22:50961169	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50961169	nvar	1
chr22:50961169	var	chr22:50961169:A/G
chr22:50961373	allele_ref	C
chr22:50961373	allele_alt	T
chr22:50961373	seqdb_ref	C
chr22:50961373	snp_fw_seq3	ACC/ATC
chr22:50961373	snp_rv_seq3	GGT/GAT
chr22:50961373	func	intronic,intronic
chr22:50961373	transcript	NM_001185011,NM_152299
chr22:50961373	genomic	.,.
chr22:50961373	codon	.,.
chr22:50961373	protein	.,.
chr22:50961373	worst	intronic
chr22:50961373	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50961373	nvar	1
chr22:50961373	var	chr22:50961373:C/T
chr22:50961536	allele_ref	C
chr22:50961536	allele_alt	T
chr22:50961536	seqdb_ref	C
chr22:50961536	snp_fw_seq3	GCT/GTT
chr22:50961536	snp_rv_seq3	AGC/AAC
chr22:50961536	func	silent,silent
chr22:50961536	transcript	NM_001185011,NM_152299
chr22:50961536	genomic	.,.
chr22:50961536	codon	.,.
chr22:50961536	protein	.,.
chr22:50961536	worst	silent
chr22:50961536	class	silent,NON=0,SL=0,MIS=0,SYN=2,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50961536	nvar	1
chr22:50961536	var	chr22:50961536:C/T
chr22:50961842	allele_ref	T
chr22:50961842	allele_alt	C
chr22:50961842	seqdb_ref	T
chr22:50961842	snp_fw_seq3	CTG/CCG
chr22:50961842	snp_rv_seq3	CAG/CGG
chr22:50961842	func	3-UTR,3-UTR
chr22:50961842	transcript	NM_001185011,NM_152299
chr22:50961842	genomic	.,.
chr22:50961842	codon	.,.
chr22:50961842	protein	.,.
chr22:50961842	worst	UTR3
chr22:50961842	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:50961842	nvar	1
chr22:50961842	var	chr22:50961842:T/C
chr22:50961854	allele_ref	T
chr22:50961854	allele_alt	C
chr22:50961854	seqdb_ref	T
chr22:50961854	snp_fw_seq3	GTG/GCG
chr22:50961854	snp_rv_seq3	CAC/CGC
chr22:50961854	func	3-UTR,3-UTR
chr22:50961854	transcript	NM_001185011,NM_152299
chr22:50961854	genomic	.,.
chr22:50961854	codon	.,.
chr22:50961854	protein	.,.
chr22:50961854	worst	UTR3
chr22:50961854	class	UTR3,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:50961854	nvar	1
chr22:50961854	var	chr22:50961854:T/C
chr22:50962208	allele_ref	T
chr22:50962208	allele_alt	G
chr22:50962208	seqdb_ref	T
chr22:50962208	snp_fw_seq3	CTG/CGG
chr22:50962208	snp_rv_seq3	CAG/CCG
chr22:50962208	func	silent,silent,silent,3-UTR,silent,3-UTR
chr22:50962208	transcript	NM_001169109,NM_001169110,NM_001169111,NM_001185011,NM_005138,NM_152299
chr22:50962208	genomic	.,.,.,.,.,.
chr22:50962208	codon	.,.,.,.,.,.
chr22:50962208	protein	.,.,.,.,.,.
chr22:50962208	worst	silent
chr22:50962208	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:50962208	nvar	1
chr22:50962208	var	chr22:50962208:T/G
chr22:50962463	allele_ref	C
chr22:50962463	allele_alt	T
chr22:50962463	seqdb_ref	C
chr22:50962463	snp_fw_seq3	ACA/ATA
chr22:50962463	snp_rv_seq3	TGT/TAT
chr22:50962463	func	missense,missense,missense,3-UTR,missense,3-UTR
chr22:50962463	transcript	NM_001169109,NM_001169110,NM_001169111,NM_001185011,NM_005138,NM_152299
chr22:50962463	genomic	g.378C>T,g.378C>T,g.378C>T,.,g.378C>T,.
chr22:50962463	codon	c.378ATG>ATA,c.378ATG>ATA,c.378ATG>ATA,.,c.378ATG>ATA,.
chr22:50962463	protein	p.126M>I,p.126M>I,p.126M>I,.,p.126M>I,.
chr22:50962463	worst	missense
chr22:50962463	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:50962463	nvar	1
chr22:50962463	var	chr22:50962463:C/T
chr22:50962514	allele_ref	G
chr22:50962514	allele_alt	A
chr22:50962514	seqdb_ref	G
chr22:50962514	snp_fw_seq3	TGT/TAT
chr22:50962514	snp_rv_seq3	ACA/ATA
chr22:50962514	func	silent,silent,silent,3-UTR,silent,3-UTR
chr22:50962514	transcript	NM_001169109,NM_001169110,NM_001169111,NM_001185011,NM_005138,NM_152299
chr22:50962514	genomic	.,.,.,.,.,.
chr22:50962514	codon	.,.,.,.,.,.
chr22:50962514	protein	.,.,.,.,.,.
chr22:50962514	worst	silent
chr22:50962514	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:50962514	nvar	1
chr22:50962514	var	chr22:50962514:G/A
chr22:50962782	allele_ref	C
chr22:50962782	allele_alt	G
chr22:50962782	seqdb_ref	C
chr22:50962782	snp_fw_seq3	CCG/CGG
chr22:50962782	snp_rv_seq3	CGG/CCG
chr22:50962782	func	missense,missense,missense,3-UTR,missense,3-UTR
chr22:50962782	transcript	NM_001169109,NM_001169110,NM_001169111,NM_001185011,NM_005138,NM_152299
chr22:50962782	genomic	g.59C>G,g.59C>G,g.59C>G,.,g.59C>G,.
chr22:50962782	codon	c.59CGG>CCG,c.59CGG>CCG,c.59CGG>CCG,.,c.59CGG>CCG,.
chr22:50962782	protein	p.20R>P,p.20R>P,p.20R>P,.,p.20R>P,.
chr22:50962782	worst	missense
chr22:50962782	class	missense,NON=0,SL=0,MIS=4,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=2,npcRNA=0
chr22:50962782	nvar	1
chr22:50962782	var	chr22:50962782:C/G
chr22:50964153	allele_ref	T
chr22:50964153	allele_alt	C
chr22:50964153	seqdb_ref	T
chr22:50964153	snp_fw_seq3	CTT/CCT
chr22:50964153	snp_rv_seq3	AAG/AGG
chr22:50964153	func	intronic,intronic
chr22:50964153	transcript	NM_001169109,NM_001169110
chr22:50964153	genomic	.,.
chr22:50964153	codon	.,.
chr22:50964153	protein	.,.
chr22:50964153	worst	intronic
chr22:50964153	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50964153	nvar	1
chr22:50964153	var	chr22:50964153:T/C
chr22:50964618	allele_ref	C
chr22:50964618	allele_alt	T
chr22:50964618	seqdb_ref	C
chr22:50964618	snp_fw_seq3	CCT/CTT
chr22:50964618	snp_rv_seq3	AGG/AAG
chr22:50964618	func	intronic,intronic,intronic,intronic
chr22:50964618	transcript	NM_001113755,NM_001113756,NM_001169109,NM_001953
chr22:50964618	genomic	.,.,.,.
chr22:50964618	codon	.,.,.,.
chr22:50964618	protein	.,.,.,.
chr22:50964618	worst	intronic
chr22:50964618	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=4,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50964618	nvar	1
chr22:50964618	var	chr22:50964618:C/T
chr22:50964862	allele_ref	G
chr22:50964862	allele_alt	A
chr22:50964862	seqdb_ref	G
chr22:50964862	snp_fw_seq3	GGG/GAG
chr22:50964862	snp_rv_seq3	CCC/CTC
chr22:50964862	func	silent,silent,5-UTR,silent
chr22:50964862	transcript	NM_001113755,NM_001113756,NM_001169109,NM_001953
chr22:50964862	genomic	.,.,.,.
chr22:50964862	codon	.,.,.,.
chr22:50964862	protein	.,.,.,.
chr22:50964862	worst	silent
chr22:50964862	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:50964862	nvar	1
chr22:50964862	var	chr22:50964862:G/A
chr22:50965102	allele_ref	C
chr22:50965102	allele_alt	T
chr22:50965102	seqdb_ref	C
chr22:50965102	snp_fw_seq3	CCA/CTA
chr22:50965102	snp_rv_seq3	TGG/TAG
chr22:50965102	func	silent,silent,silent
chr22:50965102	transcript	NM_001113755,NM_001113756,NM_001953
chr22:50965102	genomic	.,.,.
chr22:50965102	codon	.,.,.
chr22:50965102	protein	.,.,.
chr22:50965102	worst	silent
chr22:50965102	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50965102	nvar	1
chr22:50965102	var	chr22:50965102:C/T
chr22:50966184	allele_ref	A
chr22:50966184	allele_alt	G
chr22:50966184	seqdb_ref	A
chr22:50966184	snp_fw_seq3	AAA/AGA
chr22:50966184	snp_rv_seq3	TTT/TCT
chr22:50966184	func	intronic,intronic,intronic
chr22:50966184	transcript	NM_001113755,NM_001113756,NM_001953
chr22:50966184	genomic	.,.,.
chr22:50966184	codon	.,.,.
chr22:50966184	protein	.,.,.
chr22:50966184	worst	intronic
chr22:50966184	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50966184	nvar	1
chr22:50966184	var	chr22:50966184:A/G
chr22:50966914	allele_ref	T
chr22:50966914	allele_alt	C
chr22:50966914	seqdb_ref	T
chr22:50966914	snp_fw_seq3	TTA/TCA
chr22:50966914	snp_rv_seq3	TAA/TGA
chr22:50966914	func	intronic,intronic,intronic
chr22:50966914	transcript	NM_001113755,NM_001113756,NM_001953
chr22:50966914	genomic	.,.,.
chr22:50966914	codon	.,.,.
chr22:50966914	protein	.,.,.
chr22:50966914	worst	intronic
chr22:50966914	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=3,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50966914	nvar	1
chr22:50966914	var	chr22:50966914:T/C
chr22:50967935	allele_ref	G
chr22:50967935	allele_alt	A
chr22:50967935	seqdb_ref	G
chr22:50967935	snp_fw_seq3	CGC/CAC
chr22:50967935	snp_rv_seq3	GCG/GTG
chr22:50967935	func	silent,silent,silent
chr22:50967935	transcript	NM_001113755,NM_001113756,NM_001953
chr22:50967935	genomic	.,.,.
chr22:50967935	codon	.,.,.
chr22:50967935	protein	.,.,.
chr22:50967935	worst	silent
chr22:50967935	class	silent,NON=0,SL=0,MIS=0,SYN=3,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50967935	nvar	1
chr22:50967935	var	chr22:50967935:G/A
chr22:50970219	allele_ref	T
chr22:50970219	allele_alt	C
chr22:50970219	seqdb_ref	T
chr22:50970219	snp_fw_seq3	TTA/TCA
chr22:50970219	snp_rv_seq3	TAA/TGA
chr22:50970219	func	intronic
chr22:50970219	transcript	NM_001014440
chr22:50970219	genomic	.
chr22:50970219	codon	.
chr22:50970219	protein	.
chr22:50970219	worst	intronic
chr22:50970219	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50970219	nvar	1
chr22:50970219	var	chr22:50970219:T/C
chr22:50970516	allele_ref	G
chr22:50970516	allele_alt	A
chr22:50970516	seqdb_ref	G
chr22:50970516	snp_fw_seq3	TGG/TAG
chr22:50970516	snp_rv_seq3	CCA/CTA
chr22:50970516	func	5-UTR
chr22:50970516	transcript	NM_001014440
chr22:50970516	genomic	.
chr22:50970516	codon	.
chr22:50970516	protein	.
chr22:50970516	worst	UTR5
chr22:50970516	class	UTR5,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:50970516	nvar	1
chr22:50970516	var	chr22:50970516:G/A
chr22:50987287	allele_ref	A
chr22:50987287	allele_alt	G
chr22:50987287	seqdb_ref	A
chr22:50987287	snp_fw_seq3	CAG/CGG
chr22:50987287	snp_rv_seq3	CTG/CCG
chr22:50987287	func	missense
chr22:50987287	transcript	NM_138433
chr22:50987287	genomic	g.692A>G
chr22:50987287	codon	c.692CAG>CGG
chr22:50987287	protein	p.231Q>R
chr22:50987287	worst	missense
chr22:50987287	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50987287	nvar	1
chr22:50987287	var	chr22:50987287:A/G
chr22:50987843	allele_ref	C
chr22:50987843	allele_alt	T
chr22:50987843	seqdb_ref	C
chr22:50987843	snp_fw_seq3	ACA/ATA
chr22:50987843	snp_rv_seq3	TGT/TAT
chr22:50987843	func	silent
chr22:50987843	transcript	NM_138433
chr22:50987843	genomic	.
chr22:50987843	codon	.
chr22:50987843	protein	.
chr22:50987843	worst	silent
chr22:50987843	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50987843	nvar	1
chr22:50987843	var	chr22:50987843:C/T
chr22:50987990	allele_ref	G
chr22:50987990	allele_alt	A
chr22:50987990	seqdb_ref	G
chr22:50987990	snp_fw_seq3	GGT/GAT
chr22:50987990	snp_rv_seq3	ACC/ATC
chr22:50987990	func	silent
chr22:50987990	transcript	NM_138433
chr22:50987990	genomic	.
chr22:50987990	codon	.
chr22:50987990	protein	.
chr22:50987990	worst	silent
chr22:50987990	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50987990	nvar	1
chr22:50987990	var	chr22:50987990:G/A
chr22:50988038	allele_ref	C
chr22:50988038	allele_alt	T
chr22:50988038	seqdb_ref	C
chr22:50988038	snp_fw_seq3	GCC/GTC
chr22:50988038	snp_rv_seq3	GGC/GAC
chr22:50988038	func	silent
chr22:50988038	transcript	NM_138433
chr22:50988038	genomic	.
chr22:50988038	codon	.
chr22:50988038	protein	.
chr22:50988038	worst	silent
chr22:50988038	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50988038	nvar	1
chr22:50988038	var	chr22:50988038:C/T
chr22:50988062	allele_ref	G
chr22:50988062	allele_alt	T
chr22:50988062	seqdb_ref	G
chr22:50988062	snp_fw_seq3	TGG/TTG
chr22:50988062	snp_rv_seq3	CCA/CAA
chr22:50988062	func	silent
chr22:50988062	transcript	NM_138433
chr22:50988062	genomic	.
chr22:50988062	codon	.
chr22:50988062	protein	.
chr22:50988062	worst	silent
chr22:50988062	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50988062	nvar	1
chr22:50988062	var	chr22:50988062:G/T
chr22:50988141	allele_ref	G
chr22:50988141	allele_alt	A
chr22:50988141	seqdb_ref	G
chr22:50988141	snp_fw_seq3	CGG/CAG
chr22:50988141	snp_rv_seq3	CCG/CTG
chr22:50988141	func	missense
chr22:50988141	transcript	NM_138433
chr22:50988141	genomic	g.1546G>A
chr22:50988141	codon	c.1546GGC>AGC
chr22:50988141	protein	p.516G>S
chr22:50988141	worst	missense
chr22:50988141	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50988141	nvar	1
chr22:50988141	var	chr22:50988141:G/A
chr22:50988193	allele_ref	A
chr22:50988193	allele_alt	G
chr22:50988193	seqdb_ref	A
chr22:50988193	snp_fw_seq3	CAC/CGC
chr22:50988193	snp_rv_seq3	GTG/GCG
chr22:50988193	func	missense
chr22:50988193	transcript	NM_138433
chr22:50988193	genomic	g.1598A>G
chr22:50988193	codon	c.1598CAC>CGC
chr22:50988193	protein	p.533H>R
chr22:50988193	worst	missense
chr22:50988193	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:50988193	nvar	1
chr22:50988193	var	chr22:50988193:A/G
chr22:51008121	allele_ref	G
chr22:51008121	allele_alt	A
chr22:51008121	seqdb_ref	G
chr22:51008121	snp_fw_seq3	AGA/AAA
chr22:51008121	snp_rv_seq3	TCT/TTT
chr22:51008121	func	intronic,intronic,intronic,intronic,intronic,intronic,intronic,intronic
chr22:51008121	transcript	NM_001145134,NM_001145135,NM_001145136,NM_001145137,NM_004377,NM_152245,NM_152246,NR_027928
chr22:51008121	genomic	.,.,.,.,.,.,.,.
chr22:51008121	codon	.,.,.,.,.,.,.,.
chr22:51008121	protein	.,.,.,.,.,.,.,.
chr22:51008121	worst	intronic
chr22:51008121	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=8,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51008121	nvar	1
chr22:51008121	var	chr22:51008121:G/A
chr22:51008850	allele_ref	A
chr22:51008850	allele_alt	G
chr22:51008850	seqdb_ref	A
chr22:51008850	snp_fw_seq3	CAC/CGC
chr22:51008850	snp_rv_seq3	GTG/GCG
chr22:51008850	func	intronic,intronic,intronic,intronic,intronic,intronic,intronic,intronic
chr22:51008850	transcript	NM_001145134,NM_001145135,NM_001145136,NM_001145137,NM_004377,NM_152245,NM_152246,NR_027928
chr22:51008850	genomic	.,.,.,.,.,.,.,.
chr22:51008850	codon	.,.,.,.,.,.,.,.
chr22:51008850	protein	.,.,.,.,.,.,.,.
chr22:51008850	worst	intronic
chr22:51008850	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=8,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51008850	nvar	1
chr22:51008850	var	chr22:51008850:A/G
chr22:51009953	allele_ref	C
chr22:51009953	allele_alt	T
chr22:51009953	seqdb_ref	C
chr22:51009953	snp_fw_seq3	TCG/TTG
chr22:51009953	snp_rv_seq3	CGA/CAA
chr22:51009953	func	missense,missense,missense,missense,missense,missense,missense,npcRNA
chr22:51009953	transcript	NM_001145134,NM_001145135,NM_001145136,NM_001145137,NM_004377,NM_152245,NM_152246,NR_027928
chr22:51009953	genomic	g.1489C>T,g.1591C>T,g.1348C>T,g.1591C>T,g.1591C>T,g.1591C>T,g.1591C>T,.
chr22:51009953	codon	c.1489GAG>AAG,c.1591GAG>AAG,c.1348GAG>AAG,c.1591GAG>AAG,c.1591GAG>AAG,c.1591GAG>AAG,c.1591GAG>AAG,.
chr22:51009953	protein	p.497E>K,p.531E>K,p.450E>K,p.531E>K,p.531E>K,p.531E>K,p.531E>K,.
chr22:51009953	worst	missense
chr22:51009953	class	mixed,NON=0,SL=0,MIS=7,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:51009953	nvar	1
chr22:51009953	var	chr22:51009953:C/T
chr22:51010416	allele_ref	C
chr22:51010416	allele_alt	T
chr22:51010416	seqdb_ref	C
chr22:51010416	snp_fw_seq3	TCT/TTT
chr22:51010416	snp_rv_seq3	AGA/AAA
chr22:51010416	func	intronic,intronic,intronic,intronic,intronic,intronic,intronic,intronic
chr22:51010416	transcript	NM_001145134,NM_001145135,NM_001145136,NM_001145137,NM_004377,NM_152245,NM_152246,NR_027928
chr22:51010416	genomic	.,.,.,.,.,.,.,.
chr22:51010416	codon	.,.,.,.,.,.,.,.
chr22:51010416	protein	.,.,.,.,.,.,.,.
chr22:51010416	worst	intronic
chr22:51010416	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=8,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51010416	nvar	1
chr22:51010416	var	chr22:51010416:C/T
chr22:51010743	allele_ref	G
chr22:51010743	allele_alt	A
chr22:51010743	seqdb_ref	G
chr22:51010743	snp_fw_seq3	AGG/AAG
chr22:51010743	snp_rv_seq3	CCT/CTT
chr22:51010743	func	intronic,intronic,intronic,intronic,intronic,intronic,intronic,intronic
chr22:51010743	transcript	NM_001145134,NM_001145135,NM_001145136,NM_001145137,NM_004377,NM_152245,NM_152246,NR_027928
chr22:51010743	genomic	.,.,.,.,.,.,.,.
chr22:51010743	codon	.,.,.,.,.,.,.,.
chr22:51010743	protein	.,.,.,.,.,.,.,.
chr22:51010743	worst	intronic
chr22:51010743	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=8,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51010743	nvar	1
chr22:51010743	var	chr22:51010743:G/A
chr22:51011348	allele_ref	G
chr22:51011348	allele_alt	A
chr22:51011348	seqdb_ref	G
chr22:51011348	snp_fw_seq3	TGA/TAA
chr22:51011348	snp_rv_seq3	TCA/TTA
chr22:51011348	func	silent,silent,silent,splice,silent,silent,silent,silent,npcRNA
chr22:51011348	annot_details	DIST=-3,NMD=0,OFPTV=1,EXIN=11,ISEQ=GACCGG,ESEQ=GACTCC,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS11+-3C>T
chr22:51011348	transcript	NM_001145134,NM_001145135,NM_001145136,NM_001145136,NM_001145137,NM_004377,NM_152245,NM_152246,NR_027928
chr22:51011348	genomic	.,.,.,.,.,.,.,.,.
chr22:51011348	codon	.,.,.,.,.,.,.,.,.
chr22:51011348	protein	.,.,.,.,.,.,.,.,.
chr22:51011348	worst	splice
chr22:51011348	class	mixed,NON=0,SL=0,MIS=0,SYN=7,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:51011348	nvar	1
chr22:51011348	var	chr22:51011348:G/A
chr22:51011376	allele_ref	G
chr22:51011376	allele_alt	C
chr22:51011376	seqdb_ref	G
chr22:51011376	snp_fw_seq3	GGA/GCA
chr22:51011376	snp_rv_seq3	TCC/TGC
chr22:51011376	func	missense,missense,intronic,missense,missense,missense,missense,npcRNA
chr22:51011376	transcript	NM_001145134,NM_001145135,NM_001145136,NM_001145137,NM_004377,NM_152245,NM_152246,NR_027928
chr22:51011376	genomic	g.1178G>C,g.1280G>C,.,g.1280G>C,g.1280G>C,g.1280G>C,g.1280G>C,.
chr22:51011376	codon	c.1178TCC>TGC,c.1280TCC>TGC,.,c.1280TCC>TGC,c.1280TCC>TGC,c.1280TCC>TGC,c.1280TCC>TGC,.
chr22:51011376	protein	p.393S>C,p.427S>C,.,p.427S>C,p.427S>C,p.427S>C,p.427S>C,.
chr22:51011376	worst	missense
chr22:51011376	class	mixed,NON=0,SL=0,MIS=6,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:51011376	nvar	1
chr22:51011376	var	chr22:51011376:G/C
chr22:51011522	allele_ref	G
chr22:51011522	allele_alt	A
chr22:51011522	seqdb_ref	G
chr22:51011522	snp_fw_seq3	CGT/CAT
chr22:51011522	snp_rv_seq3	ACG/ATG
chr22:51011522	func	intronic,intronic,intronic,intronic,intronic,intronic,intronic,intronic
chr22:51011522	transcript	NM_001145134,NM_001145135,NM_001145136,NM_001145137,NM_004377,NM_152245,NM_152246,NR_027928
chr22:51011522	genomic	.,.,.,.,.,.,.,.
chr22:51011522	codon	.,.,.,.,.,.,.,.
chr22:51011522	protein	.,.,.,.,.,.,.,.
chr22:51011522	worst	intronic
chr22:51011522	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=8,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51011522	nvar	1
chr22:51011522	var	chr22:51011522:G/A
chr22:51011933	allele_ref	T
chr22:51011933	allele_alt	C
chr22:51011933	seqdb_ref	T
chr22:51011933	snp_fw_seq3	TTC/TCC
chr22:51011933	snp_rv_seq3	GAA/GGA
chr22:51011933	func	intronic,intronic,intronic,intronic,intronic,intronic,intronic,intronic
chr22:51011933	transcript	NM_001145134,NM_001145135,NM_001145136,NM_001145137,NM_004377,NM_152245,NM_152246,NR_027928
chr22:51011933	genomic	.,.,.,.,.,.,.,.
chr22:51011933	codon	.,.,.,.,.,.,.,.
chr22:51011933	protein	.,.,.,.,.,.,.,.
chr22:51011933	worst	intronic
chr22:51011933	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=8,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51011933	nvar	1
chr22:51011933	var	chr22:51011933:T/C
chr22:51011936	allele_ref	T
chr22:51011936	allele_alt	C
chr22:51011936	seqdb_ref	T
chr22:51011936	snp_fw_seq3	CTA/CCA
chr22:51011936	snp_rv_seq3	TAG/TGG
chr22:51011936	func	intronic,intronic,intronic,intronic,intronic,intronic,intronic,intronic
chr22:51011936	transcript	NM_001145134,NM_001145135,NM_001145136,NM_001145137,NM_004377,NM_152245,NM_152246,NR_027928
chr22:51011936	genomic	.,.,.,.,.,.,.,.
chr22:51011936	codon	.,.,.,.,.,.,.,.
chr22:51011936	protein	.,.,.,.,.,.,.,.
chr22:51011936	worst	intronic
chr22:51011936	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=8,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51011936	nvar	1
chr22:51011936	var	chr22:51011936:T/C
chr22:51011937	allele_ref	A
chr22:51011937	allele_alt	G
chr22:51011937	seqdb_ref	A
chr22:51011937	snp_fw_seq3	TAG/TGG
chr22:51011937	snp_rv_seq3	CTA/CCA
chr22:51011937	func	intronic,intronic,intronic,intronic,intronic,intronic,intronic,intronic
chr22:51011937	transcript	NM_001145134,NM_001145135,NM_001145136,NM_001145137,NM_004377,NM_152245,NM_152246,NR_027928
chr22:51011937	genomic	.,.,.,.,.,.,.,.
chr22:51011937	codon	.,.,.,.,.,.,.,.
chr22:51011937	protein	.,.,.,.,.,.,.,.
chr22:51011937	worst	intronic
chr22:51011937	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=8,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51011937	nvar	1
chr22:51011937	var	chr22:51011937:A/G
chr22:51012775	allele_ref	C
chr22:51012775	allele_alt	T
chr22:51012775	seqdb_ref	C
chr22:51012775	snp_fw_seq3	GCC/GTC
chr22:51012775	snp_rv_seq3	GGC/GAC
chr22:51012775	func	missense,missense,missense,missense,missense,missense,missense,npcRNA
chr22:51012775	transcript	NM_001145134,NM_001145135,NM_001145136,NM_001145137,NM_004377,NM_152245,NM_152246,NR_027928
chr22:51012775	genomic	g.857C>T,g.959C>T,g.959C>T,g.959C>T,g.959C>T,g.959C>T,g.959C>T,.
chr22:51012775	codon	c.857GGC>GAC,c.959GGC>GAC,c.959GGC>GAC,c.959GGC>GAC,c.959GGC>GAC,c.959GGC>GAC,c.959GGC>GAC,.
chr22:51012775	protein	p.286G>D,p.320G>D,p.320G>D,p.320G>D,p.320G>D,p.320G>D,p.320G>D,.
chr22:51012775	worst	missense
chr22:51012775	class	mixed,NON=0,SL=0,MIS=7,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:51012775	nvar	1
chr22:51012775	var	chr22:51012775:C/T
chr22:51012979	allele_ref	G
chr22:51012979	allele_alt	T
chr22:51012979	seqdb_ref	G
chr22:51012979	snp_fw_seq3	TGT/TTT
chr22:51012979	snp_rv_seq3	ACA/AAA
chr22:51012979	func	missense,missense,missense,missense,missense,missense,missense,npcRNA
chr22:51012979	transcript	NM_001145134,NM_001145135,NM_001145136,NM_001145137,NM_004377,NM_152245,NM_152246,NR_027928
chr22:51012979	genomic	g.726G>T,g.828G>T,g.828G>T,g.828G>T,g.828G>T,g.828G>T,g.828G>T,.
chr22:51012979	codon	c.726AAC>AAA,c.828AAC>AAA,c.828AAC>AAA,c.828AAC>AAA,c.828AAC>AAA,c.828AAC>AAA,c.828AAC>AAA,.
chr22:51012979	protein	p.242N>K,p.276N>K,p.276N>K,p.276N>K,p.276N>K,p.276N>K,p.276N>K,.
chr22:51012979	worst	missense
chr22:51012979	class	mixed,NON=0,SL=0,MIS=7,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:51012979	nvar	1
chr22:51012979	var	chr22:51012979:G/T
chr22:51013072	allele_ref	G
chr22:51013072	allele_alt	A
chr22:51013072	seqdb_ref	G
chr22:51013072	snp_fw_seq3	GGT/GAT
chr22:51013072	snp_rv_seq3	ACC/ATC
chr22:51013072	func	intronic,intronic,intronic,intronic,intronic,intronic,intronic,intronic
chr22:51013072	transcript	NM_001145134,NM_001145135,NM_001145136,NM_001145137,NM_004377,NM_152245,NM_152246,NR_027928
chr22:51013072	genomic	.,.,.,.,.,.,.,.
chr22:51013072	codon	.,.,.,.,.,.,.,.
chr22:51013072	protein	.,.,.,.,.,.,.,.
chr22:51013072	worst	intronic
chr22:51013072	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=8,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51013072	nvar	1
chr22:51013072	var	chr22:51013072:G/A
chr22:51015481	allele_ref	G
chr22:51015481	allele_alt	A
chr22:51015481	seqdb_ref	G
chr22:51015481	snp_fw_seq3	AGG/AAG
chr22:51015481	snp_rv_seq3	CCT/CTT
chr22:51015481	func	intronic,intronic,intronic,intronic,intronic,intronic,intronic,intronic
chr22:51015481	transcript	NM_001145134,NM_001145135,NM_001145136,NM_001145137,NM_004377,NM_152245,NM_152246,NR_027928
chr22:51015481	genomic	.,.,.,.,.,.,.,.
chr22:51015481	codon	.,.,.,.,.,.,.,.
chr22:51015481	protein	.,.,.,.,.,.,.,.
chr22:51015481	worst	intronic
chr22:51015481	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=8,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51015481	nvar	1
chr22:51015481	var	chr22:51015481:G/A
chr22:51015706	allele_ref	C
chr22:51015706	allele_alt	T
chr22:51015706	seqdb_ref	C
chr22:51015706	snp_fw_seq3	CCC/CTC
chr22:51015706	snp_rv_seq3	GGG/GAG
chr22:51015706	func	intronic,intronic,intronic,intronic,intronic,intronic,intronic,intronic
chr22:51015706	transcript	NM_001145134,NM_001145135,NM_001145136,NM_001145137,NM_004377,NM_152245,NM_152246,NR_027928
chr22:51015706	genomic	.,.,.,.,.,.,.,.
chr22:51015706	codon	.,.,.,.,.,.,.,.
chr22:51015706	protein	.,.,.,.,.,.,.,.
chr22:51015706	worst	intronic
chr22:51015706	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=8,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51015706	nvar	1
chr22:51015706	var	chr22:51015706:C/T
chr22:51015793	allele_ref	A
chr22:51015793	allele_alt	G
chr22:51015793	seqdb_ref	A
chr22:51015793	snp_fw_seq3	AAG/AGG
chr22:51015793	snp_rv_seq3	CTT/CCT
chr22:51015793	func	silent,silent,silent,silent,silent,silent,silent,npcRNA
chr22:51015793	transcript	NM_001145134,NM_001145135,NM_001145136,NM_001145137,NM_004377,NM_152245,NM_152246,NR_027928
chr22:51015793	genomic	.,.,.,.,.,.,.,.
chr22:51015793	codon	.,.,.,.,.,.,.,.
chr22:51015793	protein	.,.,.,.,.,.,.,.
chr22:51015793	worst	silent
chr22:51015793	class	mixed,NON=0,SL=0,MIS=0,SYN=7,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:51015793	nvar	1
chr22:51015793	var	chr22:51015793:A/G
chr22:51015838	allele_ref	T
chr22:51015838	allele_alt	C
chr22:51015838	seqdb_ref	T
chr22:51015838	snp_fw_seq3	ATG/ACG
chr22:51015838	snp_rv_seq3	CAT/CGT
chr22:51015838	func	missense,missense,missense,missense,missense,missense,missense,npcRNA
chr22:51015838	transcript	NM_001145134,NM_001145135,NM_001145136,NM_001145137,NM_004377,NM_152245,NM_152246,NR_027928
chr22:51015838	genomic	g.196T>C,g.196T>C,g.196T>C,g.196T>C,g.196T>C,g.196T>C,g.196T>C,.
chr22:51015838	codon	c.196ATC>GTC,c.196ATC>GTC,c.196ATC>GTC,c.196ATC>GTC,c.196ATC>GTC,c.196ATC>GTC,c.196ATC>GTC,.
chr22:51015838	protein	p.66I>V,p.66I>V,p.66I>V,p.66I>V,p.66I>V,p.66I>V,p.66I>V,.
chr22:51015838	worst	missense
chr22:51015838	class	mixed,NON=0,SL=0,MIS=7,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:51015838	nvar	1
chr22:51015838	var	chr22:51015838:T/C
chr22:51016158	allele_ref	G
chr22:51016158	allele_alt	A
chr22:51016158	seqdb_ref	G
chr22:51016158	snp_fw_seq3	TGA/TAA
chr22:51016158	snp_rv_seq3	TCA/TTA
chr22:51016158	func	intronic,intronic,intronic,intronic,intronic,intronic,intronic,intronic
chr22:51016158	transcript	NM_001145134,NM_001145135,NM_001145136,NM_001145137,NM_004377,NM_152245,NM_152246,NR_027928
chr22:51016158	genomic	.,.,.,.,.,.,.,.
chr22:51016158	codon	.,.,.,.,.,.,.,.
chr22:51016158	protein	.,.,.,.,.,.,.,.
chr22:51016158	worst	intronic
chr22:51016158	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=8,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51016158	nvar	1
chr22:51016158	var	chr22:51016158:G/A
chr22:51016360	allele_ref	G
chr22:51016360	allele_alt	A
chr22:51016360	seqdb_ref	G
chr22:51016360	snp_fw_seq3	GGC/GAC
chr22:51016360	snp_rv_seq3	GCC/GTC
chr22:51016360	func	5-UTR,splice,5-UTR,splice,5-UTR,splice,5-UTR,5-UTR,splice,5-UTR,splice,5-UTR,splice,npcRNA,splice
chr22:51016360	annot_details	DIST=-3,NMD=0,OFPTV=0,EXIN=2,ISEQ=GATCCT,ESEQ=GCCGTG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS2+-3C>T,DIST=-3,NMD=0,OFPTV=0,EXIN=2,ISEQ=GATCCT,ESEQ=GCCGTG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS2+-3C>T,DIST=-3,NMD=0,OFPTV=0,EXIN=2,ISEQ=GATCCT,ESEQ=GCCGTG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS2+-3C>T,DIST=-3,NMD=0,OFPTV=1,EXIN=2,ISEQ=GATCCT,ESEQ=GCCGTG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS2+-3C>T,DIST=-3,NMD=0,OFPTV=1,EXIN=2,ISEQ=GATCCT,ESEQ=GCCGTG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS2+-3C>T,DIST=-3,NMD=0,OFPTV=0,EXIN=2,ISEQ=GATCCT,ESEQ=GCCGTG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS2+-3C>T,DIST=-3,NMD=0,OFPTV=1,EXIN=12,ISEQ=GATCCT,ESEQ=GCCGTG,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS12+-3C>T
chr22:51016360	transcript	NM_001145134,NM_001145134,NM_001145135,NM_001145135,NM_001145136,NM_001145136,NM_001145137,NM_004377,NM_004377,NM_152245,NM_152245,NM_152246,NM_152246,NR_027928,NR_027928
chr22:51016360	genomic	.,.,.,.,.,.,.,.,.,.,.,.,.,.,.
chr22:51016360	codon	.,.,.,.,.,.,.,.,.,.,.,.,.,.,.
chr22:51016360	protein	.,.,.,.,.,.,.,.,.,.,.,.,.,.,.
chr22:51016360	worst	splice
chr22:51016360	class	mixed,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=7,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=7,UTR3=0,npcRNA=1
chr22:51016360	nvar	1
chr22:51016360	var	chr22:51016360:G/A
chr22:51017713	allele_ref	G
chr22:51017713	allele_alt	A
chr22:51017713	seqdb_ref	G
chr22:51017713	snp_fw_seq3	TGG/TAG
chr22:51017713	snp_rv_seq3	CCA/CTA
chr22:51017713	func	intronic,intronic
chr22:51017713	transcript	NM_005198,NR_027928
chr22:51017713	genomic	.,.
chr22:51017713	codon	.,.
chr22:51017713	protein	.,.
chr22:51017713	worst	intronic
chr22:51017713	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51017713	nvar	1
chr22:51017713	var	chr22:51017713:G/A
chr22:51018579	allele_ref	A
chr22:51018579	allele_alt	G
chr22:51018579	seqdb_ref	A
chr22:51018579	snp_fw_seq3	TAT/TGT
chr22:51018579	snp_rv_seq3	ATA/ACA
chr22:51018579	func	intronic,intronic
chr22:51018579	transcript	NM_005198,NR_027928
chr22:51018579	genomic	.,.
chr22:51018579	codon	.,.
chr22:51018579	protein	.,.
chr22:51018579	worst	intronic
chr22:51018579	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51018579	nvar	1
chr22:51018579	var	chr22:51018579:A/G
chr22:51019113	allele_ref	A
chr22:51019113	allele_alt	C
chr22:51019113	seqdb_ref	A
chr22:51019113	snp_fw_seq3	CAC/CCC
chr22:51019113	snp_rv_seq3	GTG/GGG
chr22:51019113	func	intronic,intronic
chr22:51019113	transcript	NM_005198,NR_027928
chr22:51019113	genomic	.,.
chr22:51019113	codon	.,.
chr22:51019113	protein	.,.
chr22:51019113	worst	intronic
chr22:51019113	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51019113	nvar	1
chr22:51019113	var	chr22:51019113:A/C
chr22:51020668	allele_ref	C
chr22:51020668	allele_alt	A
chr22:51020668	seqdb_ref	C
chr22:51020668	snp_fw_seq3	ACC/AAC
chr22:51020668	snp_rv_seq3	GGT/GTT
chr22:51020668	func	intronic,intronic
chr22:51020668	transcript	NM_005198,NR_027928
chr22:51020668	genomic	.,.
chr22:51020668	codon	.,.
chr22:51020668	protein	.,.
chr22:51020668	worst	intronic
chr22:51020668	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=2,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51020668	nvar	1
chr22:51020668	var	chr22:51020668:C/A
chr22:51020995	allele_ref	G
chr22:51020995	allele_alt	A
chr22:51020995	seqdb_ref	G
chr22:51020995	snp_fw_seq3	GGT/GAT
chr22:51020995	snp_rv_seq3	ACC/ATC
chr22:51020995	func	silent,npcRNA
chr22:51020995	transcript	NM_005198,NR_027928
chr22:51020995	genomic	.,.
chr22:51020995	codon	.,.
chr22:51020995	protein	.,.
chr22:51020995	worst	silent
chr22:51020995	class	mixed,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=1
chr22:51020995	nvar	1
chr22:51020995	var	chr22:51020995:G/A
chr22:51063610	allele_ref	C
chr22:51063610	allele_alt	T
chr22:51063610	seqdb_ref	C
chr22:51063610	snp_fw_seq3	GCG/GTG
chr22:51063610	snp_rv_seq3	CGC/CAC
chr22:51063610	func	missense,missense,missense,missense,missense
chr22:51063610	transcript	NM_000487,NM_001085425,NM_001085426,NM_001085427,NM_001085428
chr22:51063610	genomic	g.1493C>T,g.1493C>T,g.1493C>T,g.1493C>T,g.1235C>T
chr22:51063610	codon	c.1493CGC>CAC,c.1493CGC>CAC,c.1493CGC>CAC,c.1493CGC>CAC,c.1235CGC>CAC
chr22:51063610	protein	p.498R>H,p.498R>H,p.498R>H,p.498R>H,p.412R>H
chr22:51063610	worst	missense
chr22:51063610	class	missense,NON=0,SL=0,MIS=5,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51063610	nvar	1
chr22:51063610	var	chr22:51063610:C/T
chr22:51063656	allele_ref	C
chr22:51063656	allele_alt	T
chr22:51063656	seqdb_ref	C
chr22:51063656	snp_fw_seq3	TCG/TTG
chr22:51063656	snp_rv_seq3	CGA/CAA
chr22:51063656	func	missense,missense,missense,missense,missense
chr22:51063656	transcript	NM_000487,NM_001085425,NM_001085426,NM_001085427,NM_001085428
chr22:51063656	genomic	g.1447C>T,g.1447C>T,g.1447C>T,g.1447C>T,g.1189C>T
chr22:51063656	codon	c.1447GAG>AAG,c.1447GAG>AAG,c.1447GAG>AAG,c.1447GAG>AAG,c.1189GAG>AAG
chr22:51063656	protein	p.483E>K,p.483E>K,p.483E>K,p.483E>K,p.397E>K
chr22:51063656	worst	missense
chr22:51063656	class	missense,NON=0,SL=0,MIS=5,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51063656	nvar	1
chr22:51063656	var	chr22:51063656:C/T
chr22:51063959	allele_ref	G
chr22:51063959	allele_alt	A
chr22:51063959	seqdb_ref	G
chr22:51063959	snp_fw_seq3	CGG/CAG
chr22:51063959	snp_rv_seq3	CCG/CTG
chr22:51063959	func	intronic,intronic,intronic,intronic,intronic
chr22:51063959	transcript	NM_000487,NM_001085425,NM_001085426,NM_001085427,NM_001085428
chr22:51063959	genomic	.,.,.,.,.
chr22:51063959	codon	.,.,.,.,.
chr22:51063959	protein	.,.,.,.,.
chr22:51063959	worst	intronic
chr22:51063959	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51063959	nvar	1
chr22:51063959	var	chr22:51063959:G/A
chr22:51063987	allele_ref	G
chr22:51063987	allele_alt	C
chr22:51063987	seqdb_ref	G
chr22:51063987	snp_fw_seq3	GGA/GCA
chr22:51063987	snp_rv_seq3	TCC/TGC
chr22:51063987	func	intronic,intronic,intronic,intronic,intronic
chr22:51063987	transcript	NM_000487,NM_001085425,NM_001085426,NM_001085427,NM_001085428
chr22:51063987	genomic	.,.,.,.,.
chr22:51063987	codon	.,.,.,.,.
chr22:51063987	protein	.,.,.,.,.
chr22:51063987	worst	intronic
chr22:51063987	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51063987	nvar	1
chr22:51063987	var	chr22:51063987:G/C
chr22:51063994	allele_ref	G
chr22:51063994	allele_alt	T
chr22:51063994	seqdb_ref	G
chr22:51063994	snp_fw_seq3	CGG/CTG
chr22:51063994	snp_rv_seq3	CCG/CAG
chr22:51063994	func	intronic,intronic,intronic,intronic,intronic
chr22:51063994	transcript	NM_000487,NM_001085425,NM_001085426,NM_001085427,NM_001085428
chr22:51063994	genomic	.,.,.,.,.
chr22:51063994	codon	.,.,.,.,.
chr22:51063994	protein	.,.,.,.,.
chr22:51063994	worst	intronic
chr22:51063994	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51063994	nvar	1
chr22:51063994	var	chr22:51063994:G/T
chr22:51064039	allele_ref	G
chr22:51064039	allele_alt	C
chr22:51064039	seqdb_ref	G
chr22:51064039	snp_fw_seq3	AGT/ACT
chr22:51064039	snp_rv_seq3	ACT/AGT
chr22:51064039	func	missense,missense,missense,missense,missense
chr22:51064039	transcript	NM_000487,NM_001085425,NM_001085426,NM_001085427,NM_001085428
chr22:51064039	genomic	g.1178G>C,g.1178G>C,g.1178G>C,g.1178G>C,g.920G>C
chr22:51064039	codon	c.1178ACT>AGT,c.1178ACT>AGT,c.1178ACT>AGT,c.1178ACT>AGT,c.920ACT>AGT
chr22:51064039	protein	p.393T>S,p.393T>S,p.393T>S,p.393T>S,p.307T>S
chr22:51064039	worst	missense
chr22:51064039	class	missense,NON=0,SL=0,MIS=5,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51064039	nvar	1
chr22:51064039	var	chr22:51064039:G/C
chr22:51064068	allele_ref	G
chr22:51064068	allele_alt	A
chr22:51064068	seqdb_ref	G
chr22:51064068	snp_fw_seq3	CGT/CAT
chr22:51064068	snp_rv_seq3	ACG/ATG
chr22:51064068	func	silent,silent,silent,silent,silent
chr22:51064068	transcript	NM_000487,NM_001085425,NM_001085426,NM_001085427,NM_001085428
chr22:51064068	genomic	.,.,.,.,.
chr22:51064068	codon	.,.,.,.,.
chr22:51064068	protein	.,.,.,.,.
chr22:51064068	worst	silent
chr22:51064068	class	silent,NON=0,SL=0,MIS=0,SYN=5,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51064068	nvar	1
chr22:51064068	var	chr22:51064068:G/A
chr22:51064141	allele_ref	G
chr22:51064141	allele_alt	A
chr22:51064141	seqdb_ref	G
chr22:51064141	snp_fw_seq3	GGC/GAC
chr22:51064141	snp_rv_seq3	GCC/GTC
chr22:51064141	func	intronic,intronic,intronic,intronic,intronic
chr22:51064141	transcript	NM_000487,NM_001085425,NM_001085426,NM_001085427,NM_001085428
chr22:51064141	genomic	.,.,.,.,.
chr22:51064141	codon	.,.,.,.,.
chr22:51064141	protein	.,.,.,.,.
chr22:51064141	worst	intronic
chr22:51064141	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51064141	nvar	1
chr22:51064141	var	chr22:51064141:G/A
chr22:51064416	allele_ref	T
chr22:51064416	allele_alt	C
chr22:51064416	seqdb_ref	T
chr22:51064416	snp_fw_seq3	ATT/ACT
chr22:51064416	snp_rv_seq3	AAT/AGT
chr22:51064416	func	missense,missense,missense,missense,missense
chr22:51064416	transcript	NM_000487,NM_001085425,NM_001085426,NM_001085427,NM_001085428
chr22:51064416	genomic	g.1055T>C,g.1055T>C,g.1055T>C,g.1055T>C,g.797T>C
chr22:51064416	codon	c.1055AAT>AGT,c.1055AAT>AGT,c.1055AAT>AGT,c.1055AAT>AGT,c.797AAT>AGT
chr22:51064416	protein	p.352N>S,p.352N>S,p.352N>S,p.352N>S,p.266N>S
chr22:51064416	worst	missense
chr22:51064416	class	missense,NON=0,SL=0,MIS=5,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51064416	nvar	1
chr22:51064416	var	chr22:51064416:T/C
chr22:51064544	allele_ref	T
chr22:51064544	allele_alt	C
chr22:51064544	seqdb_ref	T
chr22:51064544	snp_fw_seq3	GTG/GCG
chr22:51064544	snp_rv_seq3	CAC/CGC
chr22:51064544	func	intronic,intronic,intronic,intronic,intronic
chr22:51064544	transcript	NM_000487,NM_001085425,NM_001085426,NM_001085427,NM_001085428
chr22:51064544	genomic	.,.,.,.,.
chr22:51064544	codon	.,.,.,.,.
chr22:51064544	protein	.,.,.,.,.
chr22:51064544	worst	intronic
chr22:51064544	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51064544	nvar	1
chr22:51064544	var	chr22:51064544:T/C
chr22:51065229	allele_ref	G
chr22:51065229	allele_alt	A
chr22:51065229	seqdb_ref	G
chr22:51065229	snp_fw_seq3	CGG/CAG
chr22:51065229	snp_rv_seq3	CCG/CTG
chr22:51065229	func	intronic,intronic,intronic,intronic,intronic
chr22:51065229	transcript	NM_000487,NM_001085425,NM_001085426,NM_001085427,NM_001085428
chr22:51065229	genomic	.,.,.,.,.
chr22:51065229	codon	.,.,.,.,.
chr22:51065229	protein	.,.,.,.,.
chr22:51065229	worst	intronic
chr22:51065229	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=5,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51065229	nvar	1
chr22:51065229	var	chr22:51065229:G/A
chr22:51065451	allele_ref	C
chr22:51065451	allele_alt	T
chr22:51065451	seqdb_ref	C
chr22:51065451	snp_fw_seq3	GCG/GTG
chr22:51065451	snp_rv_seq3	CGC/CAC
chr22:51065451	func	silent,silent,silent,silent,silent
chr22:51065451	transcript	NM_000487,NM_001085425,NM_001085426,NM_001085427,NM_001085428
chr22:51065451	genomic	.,.,.,.,.
chr22:51065451	codon	.,.,.,.,.
chr22:51065451	protein	.,.,.,.,.
chr22:51065451	worst	silent
chr22:51065451	class	silent,NON=0,SL=0,MIS=0,SYN=5,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51065451	nvar	1
chr22:51065451	var	chr22:51065451:C/T
chr22:51065600	allele_ref	G
chr22:51065600	allele_alt	A
chr22:51065600	seqdb_ref	G
chr22:51065600	snp_fw_seq3	CGT/CAT
chr22:51065600	snp_rv_seq3	ACG/ATG
chr22:51065600	func	silent,silent,silent,silent,silent
chr22:51065600	transcript	NM_000487,NM_001085425,NM_001085426,NM_001085427,NM_001085428
chr22:51065600	genomic	.,.,.,.,.
chr22:51065600	codon	.,.,.,.,.
chr22:51065600	protein	.,.,.,.,.
chr22:51065600	worst	silent
chr22:51065600	class	silent,NON=0,SL=0,MIS=0,SYN=5,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51065600	nvar	1
chr22:51065600	var	chr22:51065600:G/A
chr22:51065816	allele_ref	G
chr22:51065816	allele_alt	A
chr22:51065816	seqdb_ref	G
chr22:51065816	snp_fw_seq3	GGC/GAC
chr22:51065816	snp_rv_seq3	GCC/GTC
chr22:51065816	func	silent,silent,silent,silent,5-UTR
chr22:51065816	transcript	NM_000487,NM_001085425,NM_001085426,NM_001085427,NM_001085428
chr22:51065816	genomic	.,.,.,.,.
chr22:51065816	codon	.,.,.,.,.
chr22:51065816	protein	.,.,.,.,.
chr22:51065816	worst	silent
chr22:51065816	class	silent,NON=0,SL=0,MIS=0,SYN=4,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=1,UTR3=0,npcRNA=0
chr22:51065816	nvar	1
chr22:51065816	var	chr22:51065816:G/A
chr22:51117002	allele_ref	C
chr22:51117002	allele_alt	T
chr22:51117002	seqdb_ref	C
chr22:51117002	snp_fw_seq3	CCG/CTG
chr22:51117002	snp_rv_seq3	CGG/CAG
chr22:51117002	func	intronic
chr22:51117002	transcript	NM_001080420
chr22:51117002	genomic	.
chr22:51117002	codon	.
chr22:51117002	protein	.
chr22:51117002	worst	intronic
chr22:51117002	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51117002	nvar	1
chr22:51117002	var	chr22:51117002:C/T
chr22:51117137	allele_ref	G
chr22:51117137	allele_alt	A
chr22:51117137	seqdb_ref	G
chr22:51117137	snp_fw_seq3	CGG/CAG
chr22:51117137	snp_rv_seq3	CCG/CTG
chr22:51117137	func	intronic
chr22:51117137	transcript	NM_001080420
chr22:51117137	genomic	.
chr22:51117137	codon	.
chr22:51117137	protein	.
chr22:51117137	worst	intronic
chr22:51117137	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51117137	nvar	1
chr22:51117137	var	chr22:51117137:G/A
chr22:51117159	allele_ref	C
chr22:51117159	allele_alt	A
chr22:51117159	seqdb_ref	C
chr22:51117159	snp_fw_seq3	GCG/GAG
chr22:51117159	snp_rv_seq3	CGC/CTC
chr22:51117159	func	intronic
chr22:51117159	transcript	NM_001080420
chr22:51117159	genomic	.
chr22:51117159	codon	.
chr22:51117159	protein	.
chr22:51117159	worst	intronic
chr22:51117159	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51117159	nvar	1
chr22:51117159	var	chr22:51117159:C/A
chr22:51117580	allele_ref	T
chr22:51117580	allele_alt	C
chr22:51117580	seqdb_ref	T
chr22:51117580	snp_fw_seq3	ATC/ACC
chr22:51117580	snp_rv_seq3	GAT/GGT
chr22:51117580	func	missense
chr22:51117580	transcript	NM_001080420
chr22:51117580	genomic	g.734T>C
chr22:51117580	codon	c.734ATC>ACC
chr22:51117580	protein	p.245I>T
chr22:51117580	worst	missense
chr22:51117580	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51117580	nvar	1
chr22:51117580	var	chr22:51117580:T/C
chr22:51117660	allele_ref	T
chr22:51117660	allele_alt	G
chr22:51117660	seqdb_ref	T
chr22:51117660	snp_fw_seq3	TTG/TGG
chr22:51117660	snp_rv_seq3	CAA/CCA
chr22:51117660	func	intronic
chr22:51117660	transcript	NM_001080420
chr22:51117660	genomic	.
chr22:51117660	codon	.
chr22:51117660	protein	.
chr22:51117660	worst	intronic
chr22:51117660	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51117660	nvar	1
chr22:51117660	var	chr22:51117660:T/G
chr22:51117865	allele_ref	G
chr22:51117865	allele_alt	A
chr22:51117865	seqdb_ref	G
chr22:51117865	snp_fw_seq3	TGT/TAT
chr22:51117865	snp_rv_seq3	ACA/ATA
chr22:51117865	func	intronic
chr22:51117865	transcript	NM_001080420
chr22:51117865	genomic	.
chr22:51117865	codon	.
chr22:51117865	protein	.
chr22:51117865	worst	intronic
chr22:51117865	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51117865	nvar	1
chr22:51117865	var	chr22:51117865:G/A
chr22:51121760	allele_ref	C
chr22:51121760	allele_alt	T
chr22:51121760	seqdb_ref	C
chr22:51121760	snp_fw_seq3	CCG/CTG
chr22:51121760	snp_rv_seq3	CGG/CAG
chr22:51121760	func	intronic
chr22:51121760	transcript	NM_001080420
chr22:51121760	genomic	.
chr22:51121760	codon	.
chr22:51121760	protein	.
chr22:51121760	worst	intronic
chr22:51121760	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51121760	nvar	1
chr22:51121760	var	chr22:51121760:C/T
chr22:51121852	allele_ref	C
chr22:51121852	allele_alt	T
chr22:51121852	seqdb_ref	C
chr22:51121852	snp_fw_seq3	CCG/CTG
chr22:51121852	snp_rv_seq3	CGG/CAG
chr22:51121852	func	intronic
chr22:51121852	transcript	NM_001080420
chr22:51121852	genomic	.
chr22:51121852	codon	.
chr22:51121852	protein	.
chr22:51121852	worst	intronic
chr22:51121852	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51121852	nvar	1
chr22:51121852	var	chr22:51121852:C/T
chr22:51122989	allele_ref	G
chr22:51122989	allele_alt	A
chr22:51122989	seqdb_ref	G
chr22:51122989	snp_fw_seq3	GGC/GAC
chr22:51122989	snp_rv_seq3	GCC/GTC
chr22:51122989	func	intronic
chr22:51122989	transcript	NM_001080420
chr22:51122989	genomic	.
chr22:51122989	codon	.
chr22:51122989	protein	.
chr22:51122989	worst	intronic
chr22:51122989	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51122989	nvar	1
chr22:51122989	var	chr22:51122989:G/A
chr22:51123008	allele_ref	C
chr22:51123008	allele_alt	T
chr22:51123008	seqdb_ref	C
chr22:51123008	snp_fw_seq3	CCT/CTT
chr22:51123008	snp_rv_seq3	AGG/AAG
chr22:51123008	func	intronic,splice
chr22:51123008	annot_details	DIST=-5,NMD=0,OFPTV=1,EXIN=9,ISEQ=CCTCAG,ESEQ=GTGGCC,SPLICE_TYPE=acceptor,ALT=T,HGVS=c.IVS9+-5C>T
chr22:51123008	transcript	NM_001080420,NM_001080420
chr22:51123008	genomic	.,.
chr22:51123008	codon	.,.
chr22:51123008	protein	.,.
chr22:51123008	worst	splice
chr22:51123008	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51123008	nvar	1
chr22:51123008	var	chr22:51123008:C/T
chr22:51133518	allele_ref	G
chr22:51133518	allele_alt	A
chr22:51133518	seqdb_ref	G
chr22:51133518	snp_fw_seq3	GGG/GAG
chr22:51133518	snp_rv_seq3	CCC/CTC
chr22:51133518	func	intronic
chr22:51133518	transcript	NM_001080420
chr22:51133518	genomic	.
chr22:51133518	codon	.
chr22:51133518	protein	.
chr22:51133518	worst	intronic
chr22:51133518	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51133518	nvar	1
chr22:51133518	var	chr22:51133518:G/A
chr22:51137249	allele_ref	T
chr22:51137249	allele_alt	C
chr22:51137249	seqdb_ref	T
chr22:51137249	snp_fw_seq3	CTC/CCC
chr22:51137249	snp_rv_seq3	GAG/GGG
chr22:51137249	func	intronic
chr22:51137249	transcript	NM_001080420
chr22:51137249	genomic	.
chr22:51137249	codon	.
chr22:51137249	protein	.
chr22:51137249	worst	intronic
chr22:51137249	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51137249	nvar	1
chr22:51137249	var	chr22:51137249:T/C
chr22:51142280	allele_ref	C
chr22:51142280	allele_alt	T
chr22:51142280	seqdb_ref	C
chr22:51142280	snp_fw_seq3	TCC/TTC
chr22:51142280	snp_rv_seq3	GGA/GAA
chr22:51142280	func	intronic
chr22:51142280	transcript	NM_001080420
chr22:51142280	genomic	.
chr22:51142280	codon	.
chr22:51142280	protein	.
chr22:51142280	worst	intronic
chr22:51142280	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51142280	nvar	1
chr22:51142280	var	chr22:51142280:C/T
chr22:51142381	allele_ref	G
chr22:51142381	allele_alt	A
chr22:51142381	seqdb_ref	G
chr22:51142381	snp_fw_seq3	TGG/TAG
chr22:51142381	snp_rv_seq3	CCA/CTA
chr22:51142381	func	intronic
chr22:51142381	transcript	NM_001080420
chr22:51142381	genomic	.
chr22:51142381	codon	.
chr22:51142381	protein	.
chr22:51142381	worst	intronic
chr22:51142381	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51142381	nvar	1
chr22:51142381	var	chr22:51142381:G/A
chr22:51142692	allele_ref	T
chr22:51142692	allele_alt	A
chr22:51142692	seqdb_ref	T
chr22:51142692	snp_fw_seq3	GTG/GAG
chr22:51142692	snp_rv_seq3	CAC/CTC
chr22:51142692	func	intronic
chr22:51142692	transcript	NM_001080420
chr22:51142692	genomic	.
chr22:51142692	codon	.
chr22:51142692	protein	.
chr22:51142692	worst	intronic
chr22:51142692	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51142692	nvar	1
chr22:51142692	var	chr22:51142692:T/A
chr22:51143197	allele_ref	G
chr22:51143197	allele_alt	A
chr22:51143197	seqdb_ref	G
chr22:51143197	snp_fw_seq3	CGC/CAC
chr22:51143197	snp_rv_seq3	GCG/GTG
chr22:51143197	func	silent
chr22:51143197	transcript	NM_001080420
chr22:51143197	genomic	.
chr22:51143197	codon	.
chr22:51143197	protein	.
chr22:51143197	worst	silent
chr22:51143197	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51143197	nvar	1
chr22:51143197	var	chr22:51143197:G/A
chr22:51143308	allele_ref	G
chr22:51143308	allele_alt	A
chr22:51143308	seqdb_ref	G
chr22:51143308	snp_fw_seq3	CGG/CAG
chr22:51143308	snp_rv_seq3	CCG/CTG
chr22:51143308	func	intronic
chr22:51143308	transcript	NM_001080420
chr22:51143308	genomic	.
chr22:51143308	codon	.
chr22:51143308	protein	.
chr22:51143308	worst	intronic
chr22:51143308	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51143308	nvar	1
chr22:51143308	var	chr22:51143308:G/A
chr22:51143309	allele_ref	G
chr22:51143309	allele_alt	C
chr22:51143309	seqdb_ref	G
chr22:51143309	snp_fw_seq3	GGT/GCT
chr22:51143309	snp_rv_seq3	ACC/AGC
chr22:51143309	func	intronic
chr22:51143309	transcript	NM_001080420
chr22:51143309	genomic	.
chr22:51143309	codon	.
chr22:51143309	protein	.
chr22:51143309	worst	intronic
chr22:51143309	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51143309	nvar	1
chr22:51143309	var	chr22:51143309:G/C
chr22:51143508	allele_ref	C
chr22:51143508	allele_alt	T
chr22:51143508	seqdb_ref	C
chr22:51143508	snp_fw_seq3	ACG/ATG
chr22:51143508	snp_rv_seq3	CGT/CAT
chr22:51143508	func	silent
chr22:51143508	transcript	NM_001080420
chr22:51143508	genomic	.
chr22:51143508	codon	.
chr22:51143508	protein	.
chr22:51143508	worst	silent
chr22:51143508	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51143508	nvar	1
chr22:51143508	var	chr22:51143508:C/T
chr22:51150075	allele_ref	T
chr22:51150075	allele_alt	C
chr22:51150075	seqdb_ref	T
chr22:51150075	snp_fw_seq3	ATC/ACC
chr22:51150075	snp_rv_seq3	GAT/GGT
chr22:51150075	func	intronic
chr22:51150075	transcript	NM_001080420
chr22:51150075	genomic	.
chr22:51150075	codon	.
chr22:51150075	protein	.
chr22:51150075	worst	intronic
chr22:51150075	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51150075	nvar	1
chr22:51150075	var	chr22:51150075:T/C
chr22:51177928	allele_ref	G
chr22:51177928	allele_alt	A
chr22:51177928	seqdb_ref	G
chr22:51177928	snp_fw_seq3	AGG/AAG
chr22:51177928	snp_rv_seq3	CCT/CTT
chr22:51177928	func	intronic
chr22:51177928	transcript	NM_001097
chr22:51177928	genomic	.
chr22:51177928	codon	.
chr22:51177928	protein	.
chr22:51177928	worst	intronic
chr22:51177928	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51177928	nvar	1
chr22:51177928	var	chr22:51177928:G/A
chr22:51178090	allele_ref	G
chr22:51178090	allele_alt	A
chr22:51178090	seqdb_ref	G
chr22:51178090	snp_fw_seq3	CGG/CAG
chr22:51178090	snp_rv_seq3	CCG/CTG
chr22:51178090	func	intronic
chr22:51178090	transcript	NM_001097
chr22:51178090	genomic	.
chr22:51178090	codon	.
chr22:51178090	protein	.
chr22:51178090	worst	intronic
chr22:51178090	class	intronic,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51178090	nvar	1
chr22:51178090	var	chr22:51178090:G/A
chr22:51178224	allele_ref	C
chr22:51178224	allele_alt	A
chr22:51178224	seqdb_ref	C
chr22:51178224	snp_fw_seq3	TCA/TAA
chr22:51178224	snp_rv_seq3	TGA/TTA
chr22:51178224	func	silent
chr22:51178224	transcript	NM_001097
chr22:51178224	genomic	.
chr22:51178224	codon	.
chr22:51178224	protein	.
chr22:51178224	worst	silent
chr22:51178224	class	silent,NON=0,SL=0,MIS=0,SYN=1,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51178224	nvar	1
chr22:51178224	var	chr22:51178224:C/A
chr22:51182485	allele_ref	A
chr22:51182485	allele_alt	G
chr22:51182485	seqdb_ref	A
chr22:51182485	snp_fw_seq3	TAT/TGT
chr22:51182485	snp_rv_seq3	ATA/ACA
chr22:51182485	func	intronic,splice
chr22:51182485	annot_details	DIST=-4,NMD=0,OFPTV=1,EXIN=4,ISEQ=CTATAG,ESEQ=CCCCCA,SPLICE_TYPE=acceptor,ALT=G,HGVS=c.IVS4+-4A>G
chr22:51182485	transcript	NM_001097,NM_001097
chr22:51182485	genomic	.,.
chr22:51182485	codon	.,.
chr22:51182485	protein	.,.
chr22:51182485	worst	splice
chr22:51182485	class	splice,NON=0,SL=0,MIS=0,SYN=0,ESPL=0,CSPL=0,SPL=1,RTH=0,INT=1,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51182485	nvar	1
chr22:51182485	var	chr22:51182485:A/G
chr22:51183255	allele_ref	A
chr22:51183255	allele_alt	G
chr22:51183255	seqdb_ref	A
chr22:51183255	snp_fw_seq3	TAT/TGT
chr22:51183255	snp_rv_seq3	ATA/ACA
chr22:51183255	func	missense
chr22:51183255	transcript	NM_001097
chr22:51183255	genomic	g.886A>G
chr22:51183255	codon	c.886ATG>GTG
chr22:51183255	protein	p.296M>V
chr22:51183255	worst	missense
chr22:51183255	class	missense,NON=0,SL=0,MIS=1,SYN=0,ESPL=0,CSPL=0,SPL=0,RTH=0,INT=0,IGR=0,FRAMESHIFT=0,INDEL=0,CODONINSERTION=0,CODONDELETION=0,UNKNOWN=0,UTR5=0,UTR3=0,npcRNA=0
chr22:51183255	nvar	1
chr22:51183255	var	chr22:51183255:A/G