Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(225): Show CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	408	0.0025	232	c.53+ others(247): Show c.53+2048_53+2049insGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG AT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842874	A A	ATAGATGT others(225): Show ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18973.hp2 NA18983.hp1 others(2): Show NA18966.hp1 NA18973.hp2 NA18983.hp1 NA19058.hp2 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	5	408	0.0123	232	c.53+ others(247): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGGTAGATGTATCTATCGATAGATAG AT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS8_chr3_184807166_185057604	184895614	C C	CCCCCCCC others(225): Show CCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCC CTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTC CCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0018 a0018	a0018c0035 a0018c0035	a0018c0035t0001 a0018c0035t0001	a0018c0035t0001g0056 a0018c0035t0001g0056	1	274	0.0037	232	c.200 others(249): Show c.2004+695_2004+696insCTCCTCCTCCCCCCCTCCTCCTCCCCCC CTCCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCC CCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895628	C C	CCCCCCCT others(225): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCC TCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0175 a0002c0002t0001g0175	1	274	0.0037	232	c.200 others(249): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCC CCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTC CTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCC CCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
WDPCP_chr2_63114559_63593477	63575479	G G	GTGTATAC others(225): Show GTGTATACACTGTATATACAGTATATATACTGTATATACAGTGTATGCAC TGTATATACAGTATATACAGTATATACAGTGTATGCACTGTATATACAGT ATATACAGTGTATGCACTGTATATACAGTATATACAGTGTATGCACTGTA TATACAGTATATACAGTGTATGCACTGTATATACAGTATATACAGTGTAT GCACTGTATATACAGTATATACAGTGTATGCAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03490.hp2 HG03654.hp1 HG00735.hp2 HG03490.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0214 a0001c0001t0004g0048 a0001c0001t0004g0070 a0001c0001t0001g0214 a0001c0001t0004g0048 a0001c0001t0004g0070	3	216	0.0139	232	c.75+ others(249): Show c.75+12717_75+12718insGTGCATACACTGTATATACTGTATATAC AGTGCATACACTGTATATACTGTATATACAGTGCATACACTGTATATACT GTATATACAGTGCATACACTGTATATACTGTATATACAGTGCATACACTG TATATACTGTATATACAGTGCATACACTGTATATACTGTATATACTGTAT ATACAGTGCATACACTGTATATACAGTATATATACTGTATATACAGTGTA TACA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDPCP_chr2_63114559_63593477	63575479	G G	GTGTATAC others(225): Show GTGTATACACTGTATATACAGTATATATACTGTATATACAGTGTATGCAC TGTATATACAGTATATACTGTATATACAGTGTATGCACTGTATATACAGT ATATACAGTGTATGCACTGTATATACAGTATATACAGTGTATGCACTGTA TATACAGTATATACAGTGTATGCACTGTATATACAGTATATACAGTGTAT GCACTGTATATACAGTATATACAGTGTATGCAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03239.hp2 NA18954.hp2 HG00544.hp1 HG03239.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0063 a0001c0001t0001g0188 a0001c0001t0020g0044 a0001c0001t0001g0063 a0001c0001t0001g0188 a0001c0001t0020g0044	3	216	0.0139	232	c.75+ others(249): Show c.75+12717_75+12718insGTGCATACACTGTATATACTGTATATAC AGTGCATACACTGTATATACTGTATATACAGTGCATACACTGTATATACT GTATATACAGTGCATACACTGTATATACTGTATATACAGTGCATACACTG TATATACTGTATATACAGTGCATACACTGTATATACAGTATATACTGTAT ATACAGTGCATACACTGTATATACAGTATATATACTGTATATACAGTGTA TACA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDPCP_chr2_63114559_63593477	63575479	G G	GTGTATGC others(225): Show GTGTATGCACTGTATATACAGTATATATACTGTATATACAGTGTATGCAC TGTATATACAGTATATACTGTATATACAGTGTATGCACTGTATATACAGT ATATACAGTGTATGCACTGTATATACAGTATATACAGTGTATGCACTGTA TATACAGTATATACAGTGTATGCACTGTATATACAGTATATACAGTGTAT GCACTGTATATACAGTATATACAGTGTATGCAC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0216 a0001c0001t0040g0216	1	216	0.0046	232	c.75+ others(249): Show c.75+12717_75+12718insGTGCATACACTGTATATACTGTATATAC AGTGCATACACTGTATATACTGTATATACAGTGCATACACTGTATATACT GTATATACAGTGCATACACTGTATATACTGTATATACAGTGCATACACTG TATATACTGTATATACAGTGCATACACTGTATATACAGTATATACTGTAT ATACAGTGCATACACTGTATATACAGTATATATACTGTATATACAGTGCA TACA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WNK2_chr9_93179139_93325569	93296260	T T	TCCCCTCC others(225): Show TCCCCTCCATCCTCCCCTCACCTTCCTCCCCTCGCCTTCCTCCCCCTCCA TCTTCCCCTCTCCTTCCTCCCCTCACCACCCTCCCTTAACCATCCTCCCC TCACCATCCTCCCCTCACCTTCCTCCCCCTCCATCCTCCCCTCACCTTCC TCCCCCTCCATCCTCCCCTCACCTTCCTCCTTCTCCATCCTCCCCTTACC TTCCTCCTTCTTCATCCTTCCTTCTCCCTCCTC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0309 a0001c0002t0001g0309	1	316	0.0032	232	c.570 others(251): Show c.5709-1561_5709-1560insGCCTTCCTCCCCCTCCATCTTCCCCT CTCCTTCCTCCCCTCACCACCCTCCCTTAACCATCCTCCCCTCACCATCC TCCCCTCACCTTCCTCCCCCTCCATCCTCCCCTCACCTTCCTCCCCCTCC ATCCTCCCCTCACCTTCCTCCTTCTCCATCCTCCCCTTACCTTCCTCCTT CTTCATCCTTCCTTCTCCCTCCTCCCCCTCCATCCTCCCCTCACCTTCCT CCCCTC	WNK2	ENSG00000165238.17	transcript	ENST00000427277.7	protein_coding	23/29		INFO_REALIGN_3_PRIME	chr9	TogoVar
XYLT1_chr16_17096769_17475960	17470921	C C	CCGCCGCC others(225): Show CCGCCGCCTCGGCTCGCCGCTGCTCCTCCGCCGCCGCCGCCGCCGCCGCC GCCGCCGCCGCCGCCGCCGCCTCCACCGCCGCGGCGCGGAGTTTTCAGAC GGGCAGGGACCCGGACGTCACCAGGAGGAGGAGAAGGCGGGAGGCGGGAG CGGGGAGGCCGCGGAGGGGGGCGCCGGGCGCGCGCTCGGGGACGGGGCGC GCAGGGAGGGGCGGGCGCCTGGCCCGCGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00735.hp2 HG03041.hp2 HG00735.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0077 a0001c0002t0078 a0001c0002t0077 a0001c0002t0078	a0001c0002t0077g0124 a0001c0002t0078g0125 a0001c0002t0077g0124 a0001c0002t0078g0125	2	156	0.0128	232	c.-12 others(241): Show c.-126_-125insCGCCGCGCGGGCCAGGCGCCCGCCCCTCCCTGCGCG CCCCGTCCCCGAGCGCGCGCCCGGCGCCCCCCTCCGCGGCCTCCCCGCTC CCGCCTCCCGCCTTCTCCTCCTCCTGGTGACGTCCGGGTCCCTGCCCGTC TGAAAACTCCGCGCCGCGGCGGTGGAGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGAGGAGCAGCGGCGAGCCGAGGCGGCG	XYLT1	ENSG00000103489.12	transcript	ENST00000261381.7	protein_coding	1/12	126		chr16	TogoVar
XYLT1_chr16_17096769_17475960	17470921	C C	CCGCCGCC others(225): Show CCGCCGCCTCGGCTCGCCGCTGCTCCTCCTCCGCCGCCGCCGCCGCCGCC GCCGCCGCCGCCGCCGCCGCCTCCACCGCCGCGGCGCGGAGTTTTCAGAC GGGCAGGGACCCGGACGTCACCAGGAGGAGGAGAAGGCGGGAGGCGGGAG CGGGGAGGCCGCGGAGGGGGGCGCCGGGCGCGCGCTCGGGGACGGGGCGC GCAGGGAGGGGCGGGCGCCTGGCCCGCGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02559.hp1 HG02723.hp1 HG02559.hp1 HG02723.hp1	a0003 a0007 a0003 a0007	a0003c0046 a0007c0009 a0003c0046 a0007c0009	a0003c0046t0075 a0007c0009t0076 a0003c0046t0075 a0007c0009t0076	a0003c0046t0075g0121 a0007c0009t0076g0120 a0003c0046t0075g0121 a0007c0009t0076g0120	2	156	0.0128	232	c.-12 others(241): Show c.-126_-125insCGCCGCGCGGGCCAGGCGCCCGCCCCTCCCTGCGCG CCCCGTCCCCGAGCGCGCGCCCGGCGCCCCCCTCCGCGGCCTCCCCGCTC CCGCCTCCCGCCTTCTCCTCCTCCTGGTGACGTCCGGGTCCCTGCCCGTC TGAAAACTCCGCGCCGCGGCGGTGGAGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGAGGAGGAGCAGCGGCGAGCCGAGGCGGCG	XYLT1	ENSG00000103489.12	transcript	ENST00000261381.7	protein_coding	1/12	126		chr16	TogoVar
XYLT1_chr16_17096769_17475960	17470921	C C	CCGCCGCC others(225): Show CCGCCGCCTCGGCTCGCCGCTGCTCCTCCTCCGCCGCCGCCGCCGCCGCT GCCGCCGCCGCCGCCGCCGCCTCCACCGCCGCGGCGCGGAGTTTTCAGAC GGGCAGGGACCCGGACGTCACCAGGAGGAGGAGAAGGCGGGAGGCGGGAG CGGGGAGGCCGCGGAGGGGGGCGCCGGGCGCGCGCTCGGGGACGGGGCGC GCAGGGAGGGGCGGGCGCCTGGCCCGCGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01261.hp2 others(10): Show HG01069.hp1 HG01071.hp2 HG01261.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG02132.hp1 HG02622.hp2 HG02738.hp1 HG02809.hp2 HG03139.hp1 NA21309.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0007 a0009 a0010	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0001c0013 a0002c0011 a0004c0018 a0007c0009 a0009c0027 a0010c0029	a0001c0001t0011 a0001c0001t0027 a0001c0001t0028 others(9): Show a0001c0001t0011 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0002t0011 a0001c0006t0026 a0001c0013t0010 a0002c0011t0007 a0004c0018t0007 a0007c0009t0007 a0009c0027t0031 a0010c0029t0029	a0001c0001t0011g0014 a0001c0001t0027g0016 a0001c0001t0028g0007 others(10): Show a0001c0001t0011g0014 a0001c0001t0027g0016 a0001c0001t0028g0007 a0001c0001t0030g0018 a0001c0002t0011g0017 a0001c0006t0026g0013 a0001c0013t0010g0012 a0001c0013t0010g0015 a0002c0011t0007g0009 a0004c0018t0007g0011 a0007c0009t0007g0010 a0009c0027t0031g0008 a0010c0029t0029g0019	13	156	0.0833	232	c.-12 others(241): Show c.-126_-125insCGCCGCGCGGGCCAGGCGCCCGCCCCTCCCTGCGCG CCCCGTCCCCGAGCGCGCGCCCGGCGCCCCCCTCCGCGGCCTCCCCGCTC CCGCCTCCCGCCTTCTCCTCCTCCTGGTGACGTCCGGGTCCCTGCCCGTC TGAAAACTCCGCGCCGCGGCGGTGGAGGCGGCGGCGGCGGCGGCGGCAGC GGCGGCGGCGGCGGCGGAGGAGGAGCAGCGGCGAGCCGAGGCGGCG	XYLT1	ENSG00000103489.12	transcript	ENST00000261381.7	protein_coding	1/12	126		chr16	TogoVar
ZBTB20_chr3_114309500_115152288	114753324	C C	CATTATAT others(225): Show CATTATATATAATGTATATATAATGTATATATGTATACATTATATATAAT GTATATATAATGTATATATGTATACATTATATATAATGTATATATAATGT ATATATGTATACATTATATATAATGTATATATAATGTATATATGTATACA TTATATATAATGTATATATAATGTATATATGTATACATTATATATAATGT ATATATAATGTATATATGTATACATTATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0022 a0001c0001t0026g0022	1	88	0.0114	232	c.-34 others(253): Show c.-343+47776_-343+47777insTATATATAATGTATACATATATAC ATTATATATACATTATATATAATGTATACATATATACATTATATATACAT TATATATAATGTATACATATATACATTATATATACATTATATATAATGTA TACATATATACATTATATATACATTATATATAATGTATACATATATACAT TATATATACATTATATATAATGTATACATATATACATTATATATACATTA TATATAAT	ZBTB20	ENSG00000181722.18	transcript	ENST00000675478.1	protein_coding	5/11			chr3	TogoVar
ZC3H12B_chrX_65029826_65512887	65450613	G G	GTATATAT others(225): Show GTATATATATATATACATGTATACATATGTATACATGTATATATATACAT ATGTATACATGTATATATGTATATATGTATAAATATACATATGTATATAT ATGTATATATGTATACATATGTATATATACATATGTATATATATGTATAT ATGTATACATATGTATATATACATATGTATATATGCATATATACATATGT GTATATATATGTATATATGTATACATATGTATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	165	0.0061	232	c.-15 others(253): Show c.-156-38029_-156-38028insTATATATATACATGTATACATATG TATACATGTATATATATACATATGTATACATGTATATATGTATATATGTA TAAATATACATATGTATATATATGTATATATGTATACATATGTATATATA CATATGTATATATATGTATATATGTATACATATGTATATATACATATGTA TATATGCATATATACATATGTGTATATATATGTATATATGTATACATATG TATATATA	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF30_chr19_34921903_34950168	34923077	A A	ATATATAA others(225): Show ATATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAA CTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATA TAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTAT ATTGTATATAACATAACTTGTTATGTTATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG02451.hp2 HG01168.hp1 HG02451.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0069 a0003c0003t0002g0071 a0003c0003t0002g0069 a0003c0003t0002g0071	2	412	0.0049	232	c.-42 others(243): Show c.-4204_-4203insTATATAACATAACTTGTTATGTTATATTGTATAT AACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATA TTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTT ATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACAT AACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTG	ZNF30	ENSG00000168661.15	transcript	ENST00000601142.2	protein_coding		3825		chr19	TogoVar
ABR_chr17_998519_1184981	1118551	T T	TCCCTGAG others(226): Show TCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCC CCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAACCCTGAGCCTG AGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCC TGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCCTCCCAGCG TTATTGCCTGAGCCTGAGTCCCTCCCAGCGTTAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02135.hp1 NA18747.hp2 others(1): Show HG02056.hp2 HG02135.hp1 NA18747.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012	a0001c0001t0002g0099 a0001c0001t0006g0055 a0001c0001t0007g0288 others(1): Show a0001c0001t0002g0099 a0001c0001t0006g0055 a0001c0001t0007g0288 a0001c0001t0012g0183	4	337	0.0119	233	c.246 others(250): Show c.246+6631_246+6632insTTAACGCTGGGAGGGACTCAGGCTCAGG CAATAACGCTGGGAGGGACTCAGGCTCAGGGATAACGCTGGGAGGACTCA GGCTCAGGGATAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGA GGAACTCAGGCTCAGGGTTAACGCTGGGGAGAACTCAGGCTCAGGGATAA CGCTGGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCT CAGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118767	G G	GTTCCTCC others(226): Show GTTCCTCCCAGCATTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCT GAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCT TTATCCCTGAGCCTGAGTTCTCCCCAGCTTTATCCCTGAGCCTGAGTTCT CCCCAGCTTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCC TGAGTCCTCCCAGCGTTATTGCCTGAGCCTGAGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0092 a0001c0002t0092	a0001c0002t0092g0336 a0001c0002t0092g0336	1	337	0.0030	233	c.246 others(250): Show c.246+6415_246+6416insACTCAGGCTCAGGCAATAACGCTGGGAG GACTCAGGCTCAGGGATAACGCTGGGGAGAACTCAGGCTCAGGGATAAAG CTGGGGAGAACTCAGGCTCAGGGATAAAGCTGGGGAGAACTCAGGCTCAG GGATAAAGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTC AGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAATGCTGGG AGGAA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153445	G G	GTCCAGGC others(226): Show GTCCAGGCACACCTGCGGGGAGGGCTGGGGGTCCAGTCACACCTGCGGGA GGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACAC CTACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCC AGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCT GGGGGTCCAGGCACACCTGCGGGAGGGCTAGGGA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0211 a0001c0001t0019g0211	1	337	0.0030	233	c.61+ others(250): Show c.61+26221_61+26222insTCCCTAGCCCTCCCGCAGGTGTGCCTGG ACCCCCAGCCCTCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGT GTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTC CCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCC CAGCCCTCCCGCAGGTGTGACTGGACCCCCAGCCCTCCCCGCAGGTGTGC CTGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153808	A A	ACGGGAGG others(226): Show ACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGGAGGGCTGGGGGTCCA GGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTG GGGGTCCAGGCACACCTGCGGGAGGGCTGGGGACCCAGGCACACCTGCGG GAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCAC ACCTGCGGGAGGGCTGGGGATCCAGGCACACCTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0266 a0001c0001t0005g0266	1	337	0.0030	233	c.61+ others(250): Show c.61+25858_61+25859insCAGGTGTGCCTGGATCCCCAGCCCTCCC GCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCA GCCCTCCCGCAGGTGTGCCTGGGTCCCCAGCCCTCCCGCAGGTGTGCCTG GACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGG TGTGCCTGGACCCCCAGCCCTCCCCGCAGGTGTGCCTGGACCCCCAGCCC TCCCG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADAMTS2_chr5_179105853_179350461	179277906	C C	CCCCCCCC others(226): Show CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCC CCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCC CGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCCCCCCGTGA GACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGAC CAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0030 a0030	a0030c0085 a0030c0085	a0030c0085t0002 a0030c0085t0002	a0030c0085t0002g0202 a0030c0085t0002g0202	1	276	0.0036	233	c.535 others(250): Show c.535-4843_535-4842insTCAGCCTTTGGTCTCGCGGGGGGGTCAG CCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCT TTGGTCTCACGGGGGGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTG GTCTCGGGGGGTGTCAGCCTTTGGTCTCGGAGGGGGTCAGCCTTTGGTCT CGCGGGGGCGTCAGCCGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGG GGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(226): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0028 a0003c0003t0002g0028	1	218	0.0046	233	c.32- others(246): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAGAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA A	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
ADHFE1_chr8_66427504_66473907	66469645	T T	TTCTTTTC others(226): Show TTCTTTTCTTTTTTTTTTTTTAATGTTTTTTTTTTTTTATTATACTCTAA GTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACAT GTGCCATGCTGGTGCGCTGCACCCGCTAACGTGTCATCTAGCATTAGGTA TATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCC AGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01433.hp1 HG01433.hp2 HG01123.hp1 HG01433.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0141 a0001c0001t0001g0154 a0001c0001t0001g0002 a0001c0001t0001g0141 a0001c0001t0001g0154	3	402	0.0075	233	c.12 others(244): Show c.1293_*1294insTCTTTTCTTTTTTTTTTTTTAATGTTTTTTTTTT TTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGT TACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCGCTAACGTGTC ATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGAC CCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA	ADHFE1	ENSG00000147576.17	transcript	ENST00000396623.8	protein_coding		739		chr8	TogoVar
ADHFE1_chr8_66427504_66473907	66469645	T T	TTCTTTTC others(226): Show TTCTTTTCTTTTTTTTTTTTTTAATGTTTTTTTTTATTATTATACTCTAA GTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACAT GTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCATCTAGCATTAGGTA TATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCC AGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00733.hp2 others(18): Show HG00099.hp1 HG00639.hp1 HG00733.hp2 HG00738.hp2 HG01123.hp2 HG01169.hp2 HG01255.hp1 HG01346.hp1 HG01517.hp1 HG02486.hp2 HG02559.hp1 HG02647.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG03139.hp2 HG03471.hp2 HG03490.hp2 HG03834.hp2 HG06807.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0005c0007 a0001c0003 a0005c0007	a0001c0003t0001 a0005c0007t0001 a0001c0003t0001 a0005c0007t0001	a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0048 others(14): Show a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0078 a0001c0003t0001g0278 a0001c0003t0001g0298 a0001c0003t0001g0305 a0001c0003t0001g0306 a0001c0003t0001g0307 a0001c0003t0001g0311 a0001c0003t0001g0312 a0001c0003t0001g0313 a0005c0007t0001g0229	21	402	0.0522	233	c.12 others(244): Show c.1293_*1294insTCTTTTCTTTTTTTTTTTTTTAATGTTTTTTTTT ATTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGT TACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTC ATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGAC CCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA	ADHFE1	ENSG00000147576.17	transcript	ENST00000396623.8	protein_coding		739		chr8	TogoVar
ADHFE1_chr8_66427504_66473907	66469645	T T	TTCTTTTC others(226): Show TTCTTTTCTTTTTTTTTTTTTTAATGTTTTTTTTTTTTATTATACTCTAA GTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACAT GTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCATCTAGCATTAGGTA TATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCC AGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	402	0.0025	233	c.12 others(244): Show c.1293_*1294insTCTTTTCTTTTTTTTTTTTTTAATGTTTTTTTTT TTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGT TACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTC ATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGAC CCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA	ADHFE1	ENSG00000147576.17	transcript	ENST00000396623.8	protein_coding		739		chr8	TogoVar
ADHFE1_chr8_66427504_66473907	66469645	T T	TTCTTTTC others(226): Show TTCTTTTCTTTTTTTTTTTTTTAATGTTTTTTTTTTTTATTATACTCTAA GTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACAT GTGCCATGCTGGTGCGCTGCACCCGCTAACGTGTCATCTAGCATTAGGTA TATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCC AGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02074.hp1 HG02165.hp1 others(4): Show HG02040.hp2 HG02074.hp1 HG02165.hp1 HG02647.hp2 HG02818.hp1 HG03041.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0119 a0001c0001t0001g0122 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290	7	402	0.0174	233	c.12 others(244): Show c.1293_*1294insTCTTTTCTTTTTTTTTTTTTTAATGTTTTTTTTT TTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGT TACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCGCTAACGTGTC ATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGAC CCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA	ADHFE1	ENSG00000147576.17	transcript	ENST00000396623.8	protein_coding		739		chr8	TogoVar
AMFR_chr16_56356452_56430545	56406127	G G	GGGGGAGA others(226): Show GGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGG AGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGA GGGGAGAGGGGGGAGGGAGAGTGGGGAGAGAGAAGGGAGGGGGGGGAGGG GAGAGGAGAGAGAGGAGGGGAGGGGAGGAGGAGGGGTGGAGGGGGGGAGA GGGGGAGGGGAGGGGGAGAGGGAGAGAGGAGAGA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0190 a0001c0001t0004g0190	1	356	0.0028	233	c.667 others(248): Show c.667-884_667-883insTCTCTCCTCTCTCCCTCTCCCCCTCCCCTC CCCCTCTCCCCCCCTCCACCCCTCCTCCTCCCCTCCCCTCCTCTCTCTCC TCTCCCCTCCCCCCCCTCCCTTCTCTCTCCCCACTCTCCCTCCCCCCTCT CCCCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCTTCCCCCTCTCCCCC CTCTCCCCCCTCCCCTCCCCCTTCCCCCTCTCCCCCCTCTCCCCCCTCTC CCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(226): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCG GGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGGAGGGGAGTG CGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGC GGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	342	0.0029	233	c.62 others(244): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGG GGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGG GGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGG GGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGG GGGAAGGGGGAGTGCGGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(226): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGGGGAGGGGGGAGTGC GGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTG CGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGGAAGGGGGAGTG CGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	342	0.0029	233	c.62 others(244): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGG GGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGG GGGAGGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTG GGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGG GGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(226): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGGGGAGGGGGGAGTGC GGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGGAGGGGAGT GCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTG CGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	342	0.0029	233	c.62 others(244): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGG GGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGG GGGAGGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTG GGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTG GGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(226): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGCG GGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGC GGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTG CGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGGAGTG CGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	342	0.0029	233	c.62 others(244): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGG GGGGAGGGGAGTGCGGGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTG GGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGG GGGAAGGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(226): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGCG GGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGC GGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGGAGGGGAGT GCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTG CGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	342	0.0029	233	c.62 others(244): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGG GGGGAGGGGAGTGCGGGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTG GGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTG GGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARHGEF1_chr19_41878184_41912452	41893858	T T	TGGGGGGC others(226): Show TGGGGGGCCTGGACTCCTAGGTCTGAGGGAGGAGGAGGCTGGGGGCCTGG ACGTCTGGGTCTGAGGGAGGAGGGGGCTGGGGGGCCTGGACGCCTGGGTC TGAGGGAGGAGGGGGCTGGGGGGCCTGGACTCCTAGGTCTGAGGGAGGAG GAGGCTGGGGGCCTGAACGTCTGGGTCTGAGGGAGGAGGGGGCTGGGGGG CCTGGACGTCTGGGTCTGAGGGAGGAGGGGGCTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	234	0.0043	233	c.645 others(248): Show c.645-344_645-343insGCCTGGACTCCTAGGTCTGAGGGAGGAGGA GGCTGGGGGCCTGGACGTCTGGGTCTGAGGGAGGAGGGGGCTGGGGGGCC TGGACGCCTGGGTCTGAGGGAGGAGGGGGCTGGGGGGCCTGGACTCCTAG GTCTGAGGGAGGAGGAGGCTGGGGGCCTGAACGTCTGGGTCTGAGGGAGG AGGGGGCTGGGGGGCCTGGACGTCTGGGTCTGAGGGAGGAGGGGGCTGGG GGG	ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ASAP1_chr8_130047104_130448674	130049297	A A	AGGGGAAC others(226): Show AGGGGAACACATGGAGGGCAGAGGGGGAACACATGGAGGGCAGAGGGGAA CACATGGAGGGCAGAGGGGGAACACATGGGGGGCAGAGGGGAACACATGG GGGGCAGAGGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGA GGGGAACACATGGAGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACA CATGGGGGCAGAGGGGAACACATGGAGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 NA18951.hp2 HG00673.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0192 a0001c0001t0002g0174 a0001c0001t0002g0192	2	308	0.0065	233	c.54 others(244): Show c.5433_*5434insCTCTGCCCTCCATGTGTTCCCCTCTGCCCCCATG TGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCTCCATGTGTTCCCC TCTGCCCCCATGTGTTCCCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCC CCATGTGTTCCCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCTCCATGTG TTCCCCTCTGCCCTCCATGTGTTCCCCCTCTGCCCTCCATGTGTTCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2806		chr8	TogoVar
ASCC1_chr10_72091032_72221276	72198299	A A	AGGGAGGG others(226): Show AGGGAGGGGAGGGGGAGGGGGAAGGAGATGGGGGAGGGCAGACGGGAGGG GGGACGGGGAGGGAAGGGGGAGGGAAGAGGAGGGGAGGGGGATGGGAGGG GAGGGGGAGGGGAGGGGGAGGAGAGGGGGATGGGAGGGGGACGGGGAGGG GACGGGGAGGGGAGGGGGAGGGGAGGGGAGATGGGAGGGGAGGGGAGGGT GAGGGGAGGGGAGGGGGAGGGGAGGAGAGGGGAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	216	0.0046	233	c.311 others(250): Show c.311-1311_311-1310insCTCCCCTCTCCTCCCCTCCCCCTCCCCT CCCCTCACCCTCCCCTCCCCTCCCATCTCCCCTCCCCTCCCCCTCCCCTC CCCGTCCCCTCCCCGTCCCCCTCCCATCCCCCTCTCCTCCCCCTCCCCTC CCCCTCCCCTCCCATCCCCCTCCCCTCCTCTTCCCTCCCCCTTCCCTCCC CGTCCCCCCTCCCGTCTGCCCTCCCCCATCTCCTTCCCCCTCCCCCTCCC CTCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ATG5_chr6_106179476_106330760	106251644	A A	AGGGAGGG others(226): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGCGGAGAGAGGGAGAAGGGAGAGA GGGAGGGAGGGAGGGGGAGGGGGAGAGAGGGAGGGAGGGGGAGAGGGAGA GAGGGAGGGGGAGAGAGGGAGGGGGAGAGAGGGAGGGAGGGAGAGAGAGG GAGAGAGGGAGGGGGGAGAAAGGAGGGGGAGGGGGAGAGAGGGAGGGTGG GGGAGGGAGGGAGGGGGAGGGAGGGAGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0019 a0001c0001t0012g0019	1	358	0.0028	233	c.479 others(250): Show c.479-3401_479-3400insCCCCTCCCTCCCTCCCTCCCCCTCCCTC CCTCCCCCACCCTCCCTCTCTCCCCCTCCCCCTCCTTTCTCCCCCCTCCC TCTCTCCCTCTCTCTCCCTCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCTCTCCCCCTCCCTCCCTCTCTCCCCCTCCCCCTCCCTC CCTCCCTCTCTCCCTTCTCCCTCTCTCCGCCTCCCTCCCTCCCTCCCTCC CTCCC	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7			chr6	TogoVar
ATM_chr11_108218067_108374102	108262052	A A	ACACTCTG others(226): Show ACACTCTGCAGGATATTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCCGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0012 a0009c0013t0012	a0009c0013t0012g0120 a0009c0013t0012g0120	1	304	0.0033	233	c.246 others(252): Show c.2466+2993_2466+2994insTTTTTTTTTTTTATTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCCG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTCACTCTGCA GGATATT	ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	16/62		INFO_REALIGN_3_PRIME	chr11	TogoVar
ATM_chr11_108218067_108374102	108262052	A A	ACACTCTG others(226): Show ACACTCTGCAGGATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCCGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0012 a0009c0013t0012	a0009c0013t0012g0119 a0009c0013t0012g0119	1	304	0.0033	233	c.246 others(252): Show c.2466+2993_2466+2994insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCCG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTCACTCTGCA GGATATT	ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	16/62		INFO_REALIGN_3_PRIME	chr11	TogoVar
ATP10B_chr5_160558120_160857211	160653852	T T	TATACAAC others(226): Show TATACAACATAAATATATGTTGTATATACGTATATACAACATAAATATAT GTTGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATA CAACATAAATATATGTTGTATATACGTATATACATATATAAATATATGTT GTATATACGTATATACATATATAAATATATGTTGTATATACGTATATACA ACATAAATATATGTTGTATATACGTATATACAAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA18948.hp2 HG01168.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0047 a0001c0001t0009g0080 a0001c0001t0002g0047 a0001c0001t0009g0080	2	236	0.0085	233	c.676 others(250): Show c.676-4597_676-4596insGTTGTATATACGTATATACAACATATAT TTATGTTGTATATACGTATATACAACATATATTTATATATGTATATACGT ATATACAACATATATTTATATATGTATATACGTATATACAACATATATTT ATGTTGTATATACGTATATACAACATATATTTATGTTGTATATACGTATA TACAACATATATTTATGTTGTATATACGTATATACAACATATATTTATGT TGTAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATXN7L1_chr7_105599772_105881599	105825614	A A	AAGCATGT others(226): Show AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG CGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03139.hp1 HG01255.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0057 a0001c0001t0027 a0001c0001t0057	a0001c0001t0027g0134 a0001c0001t0057g0229 a0001c0001t0027g0134 a0001c0001t0057g0229	2	252	0.0079	233	c.251 others(252): Show c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ACATGCT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11			chr7	TogoVar
B3GNTL1_chr17_82937149_83056770	82984371	G G	GCCACGTG others(226): Show GCCACGTGATTATGCAGGGGAGAGGCCATGTGAGCACACAGGGAGAGGCC ACAGGAGGACGCAGGGAGAGGCCACAGGAGGATGCAGGGAGAGACCACGT GATTATGCAGGGGAGAGGCCACAGGAGGACGCAGGGAGAGGCCACGTGAT TATGCAGGGGAGAGGCCATGTGAGCACACAGGGAGAGGCCACAGGAGGAC GCAGGGAGAGGCCACAGGAGGATGCAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG03453.hp2 NA18983.hp2 others(2): Show HG00597.hp1 HG03453.hp2 NA18983.hp2 NA19062.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0022 a0001c0002 a0001c0006 a0002c0022	a0001c0002t0010 a0001c0002t0016 a0001c0006t0010 others(1): Show a0001c0002t0010 a0001c0002t0016 a0001c0006t0010 a0002c0022t0003	a0001c0002t0010g0132 a0001c0002t0016g0134 a0001c0002t0016g0135 others(2): Show a0001c0002t0010g0132 a0001c0002t0016g0134 a0001c0002t0016g0135 a0001c0006t0010g0010 a0002c0022t0003g0029	5	266	0.0188	233	c.460 others(252): Show c.460-18626_460-18625insTCTCTCCCTGCATCCTCCTGTGGCCT CTCCCTGCGTCCTCCTGTGGCCTCTCCCTGTGTGCTCACATGGCCTCTCC CCTGCATAATCACGTGGCCTCTCCCTGCGTCCTCCTGTGGCCTCTCCCCT GCATAATCACGTGGTCTCTCCCTGCATCCTCCTGTGGCCTCTCCCTGCGT CCTCCTGTGGCCTCTCCCTGTGTGCTCACATGGCCTCTCCCCTGCATAAT CACGTGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82984480	G G	GGGGAGAG others(226): Show GGGGAGAGGCCATGTGAGCACACAGGGAGAGGCCACAGGAGGATGCAGGG AGAGACCACGTGATTATGCAGGGGAGAGGCCATGTGAGCACACAGGGAGA GGCCACAGGAGGACGCAGGGAGAGGCCACAGGAGGATGCAGGGAGAGACC ACGTGATTATGCAGGGGAGAGGCCACAGGAGGATGCAGGGAGAGACCACG TGATTATGCAGGGGAGAGGCCATGTGAGCACACA	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19240.hp1 HG03516.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0188 a0001c0003t0020g0200 a0001c0003t0020g0188 a0001c0003t0020g0200	2	266	0.0075	233	c.460 others(252): Show c.460-18735_460-18734insTGTGTGCTCACATGGCCTCTCCCCTG CATAATCACGTGGTCTCTCCCTGCATCCTCCTGTGGCCTCTCCCCTGCAT AATCACGTGGTCTCTCCCTGCATCCTCCTGTGGCCTCTCCCTGCGTCCTC CTGTGGCCTCTCCCTGTGTGCTCACATGGCCTCTCCCCTGCATAATCACG TGGTCTCTCCCTGCATCCTCCTGTGGCCTCTCCCTGTGTGCTCACATGGC CTCTCCC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GAGGGGGG others(226): Show GAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGAGA GGGGGGATGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGA GGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGAGGG GGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	298	0.0034	233	c.51+ others(246): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCATCCCCATCCCC CCTCTCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCC T	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GAGGGGGG others(226): Show GAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGAGA GGGGGGATGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGA GGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGAGGG GGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18995.hp1 NA19067.hp1 others(1): Show NA18950.hp2 NA18995.hp1 NA19067.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 others(1): Show a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045	4	298	0.0134	233	c.51+ others(246): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCATCCCCATCCCC CCTCTCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCC T	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(226): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGGAAGGAG AGGGGGGAGGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGAGAGGG GGAGGGGAGGGGGAGGGGAAGAGGGGGGAGGGGAGGGGGAGAGGGGGAGG GGAGGGGAGAGGGGGGAGGGAGAGGGGAGGGAGATGGACTGGGGAGGAGG GGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0220 a0001c0002t0001g0220	1	298	0.0034	233	c.51+ others(246): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCTCCTCCCCAGTCCATCTCCCTCCCCTCTCCCTCCCCCCTCTCCCCT CCCCTCCCCCTCTCCCCCTCCCCTCCCCCCTCTTCCCCTCCCCCTCCCCT CCCCCTCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCATCCCCCTCCCCC CTCTCCTTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCCTCTCCCTC C	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(226): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGGAAGGAG AGGGGGGAGGGGGATGGGGGGAGGGGGGAGGGGGAGGGGGAGAGGGGGAG GGGAGGGGGAGGGGAAGAGGGGGGAGGGGAGGGGGAGAGGGGGAGGGGAG GGGGAGAGGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGAGGG GGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0148 a0001c0002t0001g0148	1	298	0.0034	233	c.51+ others(246): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCCTCTCC CCCTCCCCTCCCCCTCTCCCCCTCCCCTCCCCCCTCTTCCCCTCCCCCTC CCCTCCCCCTCTCCCCCTCCCCCTCCCCCCTCCCCCCATCCCCCTCCCCC CTCTCCTTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCCTCTCCCTC C	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGG others(226): Show GGGAGGGGAGAGGGGGAGGGGGAGGGAGGGGGGAGGGGGGAGGGGGGAGG GGGGGAAGAGGGGGGATGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGATG GGGGGAAGGGGGGAGGGGGAGGGGAGGAGGGGAGGGAGGGGGGAGGGGGA GGGAGAGGGGAGGGGAGAGGATGGGGAGAGGATGGACTGGGGAGGAGGGG GATGGACTGGGGAGGAGGGGGAATGGACTGGGGA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	298	0.0034	233	c.51+ others(246): Show c.51+438_51+439insTCCCCAGTCCATTCCCCCTCCTCCCCAGTCCA TCCCCCTCCTCCCCAGTCCATCCTCTCCCCATCCTCTCCCCTCCCCTCTC CCTCCCCCTCCCCCCTCCCTCCCCTCCTCCCCTCCCCCTCCCCCCTTCCC CCCATCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCATCCCCCCTCTTCCC CCCCTCCCCCCTCCCCCCTCCCCCCTCCCTCCCCCTCCCCCTCTCCCCTC C	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(226): Show TTATATATATTATATATATATTTATATATATATATAATATATATATTTTT ATATATATATATTATATATATATTTATATATATTATATATATATTTATAT ATATATATATTATATATATTTATATATATATATATTATATATATATTTAT ATATATATATATTATATATATATTTATATATATATATATTATATATATAT TTATATATATATATATTATATATATATTTATATA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0124 a0002c0002t0001g0124	1	216	0.0046	233	c.-2- others(250): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATATAAATATATATATAATATATATATATATAAATATATATATAATATAT ATATATATAAATATATATATAATATATATATATATAAATATATATAATAT ATATATATATAAATATATATATAATATATATAAATATATATATAATATAT ATATATAAAAATATATATATTATATATATATATAAATATATATATAATAT ATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BICD1_chr12_32101847_32388633	32252135	T T	TTATATAT others(226): Show TTATATATTATATATTTATAATAAATATTATATATTATATATTTATAATA AATATTATATATTATATATTTATTATAAATATTATATATTATATATTTAT AATAAATATTATATATTATATATTATATTTATAATAAATATTATATATTA TATATTATATTTATAATAAATATAATATATTATATATTATATTTATAATA AATATTATATATTATATATTATATTTATAATAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00438.hp1 others(35): Show HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp1 HG01069.hp2 HG01261.hp1 HG01358.hp1 HG02040.hp1 HG02080.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02523.hp2 HG02683.hp1 HG03139.hp2 HG03831.hp2 NA18612.hp2 NA18946.hp2 NA18947.hp2 NA18954.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18969.hp2 NA18971.hp2 NA18980.hp2 NA18981.hp2 NA18989.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19082.hp1 NA19084.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0028 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0029 a0001c0002t0041 a0001c0002t0045 a0001c0003t0054 a0001c0004t0062 a0002c0010t0008	a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0003g0067 others(35): Show a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0003g0067 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0006g0023 a0001c0001t0008g0108 a0001c0001t0008g0125 a0001c0001t0010g0103 a0001c0001t0011g0080 a0001c0001t0028g0006 a0001c0002t0001g0066 a0001c0002t0001g0077 a0001c0002t0001g0179 a0001c0002t0001g0190 a0001c0002t0001g0210 a0001c0002t0001g0224 a0001c0002t0001g0233 a0001c0002t0001g0267 a0001c0002t0002g0046 a0001c0002t0002g0243 a0001c0002t0004g0002 a0001c0002t0004g0007 a0001c0002t0004g0016 a0001c0002t0004g0106 a0001c0002t0004g0117 a0001c0002t0005g0001 a0001c0002t0005g0008 a0001c0002t0005g0011 a0001c0002t0005g0126 a0001c0002t0005g0127 a0001c0002t0007g0010 a0001c0002t0029g0109 a0001c0002t0041g0176 a0001c0002t0045g0201 a0001c0003t0054g0079 a0001c0004t0062g0040 a0002c0010t0008g0256	38	290	0.1310	233	c.426 others(252): Show c.426+35691_426+35692insTATAATAAATATTATATATTATATAT TTATAATAAATATTATATATTATATATTTATTATAAATATTATATATTAT ATATTTATAATAAATATTATATATTATATATTATATTTATAATAAATATT ATATATTATATATTATATTTATAATAAATATAATATATTATATATTATAT TTATAATAAATATTATATATTATATATTATATTTATAATAAATATATATT ATATATT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32252135	T T	TTATATAT others(226): Show TTATATATTATATATTTATAATAAATATTATATATTATATATTTATAATA AATATTATATATTATATATTTATTATAAATATTATATATTATATATTTAT TATAAATATTATATATTATATATTATATTTATAATAAATATTATATATTA TATATTATATTTATAATAAATATTATATATTATATATTATATTTATAATA AATATTATATATTATATATTATATTTATAATAAA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0277 a0001c0003t0013g0277	1	290	0.0035	233	c.426 others(252): Show c.426+35691_426+35692insTATAATAAATATTATATATTATATAT TTATAATAAATATTATATATTATATATTTATTATAAATATTATATATTAT ATATTTATTATAAATATTATATATTATATATTATATTTATAATAAATATT ATATATTATATATTATATTTATAATAAATATTATATATTATATATTATAT TTATAATAAATATTATATATTATATATTATATTTATAATAAATATATATT ATATATT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32252135	T T	TTATATAT others(226): Show TTATATATTATATATTTATAATAAATATTATATATTATATATTTATTATA AATATTATATATTATATATTTATTATAAATATTATATATTATATATTTAT AATAAATATTATATATTATATATTATATTTATAATAAATATTATATATTA TATATTATATTTATAATAAATATAATATATTATATATTATATTTATAATA AATATTATATATTATATATTATATTTATAATAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01943.hp2 NA18968.hp2 others(3): Show HG00609.hp1 HG01943.hp2 NA18968.hp2 NA18986.hp2 NA18988.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0020	a0001c0002t0001g0072 a0001c0002t0001g0175 a0001c0002t0001g0200 others(3): Show a0001c0002t0001g0072 a0001c0002t0001g0175 a0001c0002t0001g0200 a0001c0002t0001g0231 a0001c0002t0002g0053 a0001c0002t0020g0052	6	290	0.0207	233	c.426 others(252): Show c.426+35691_426+35692insTATAATAAATATTATATATTATATAT TTATTATAAATATTATATATTATATATTTATTATAAATATTATATATTAT ATATTTATAATAAATATTATATATTATATATTATATTTATAATAAATATT ATATATTATATATTATATTTATAATAAATATAATATATTATATATTATAT TTATAATAAATATTATATATTATATATTATATTTATAATAAATATATATT ATATATT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BLOC1S2_chr10_100268293_100291680	100276388	G G	GTCTCCCT others(226): Show GTCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTC CCGTCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTC TCCCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCCG TCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCC CGTCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0224 a0002c0002t0003g0224	1	378	0.0027	233	c.398 others(248): Show c.398-896_398-895insGGGAGACGGGAGAGGGAGACGGGAGAGGGA GACGGGAGAGGGAGACGGGAGAGGGAGACGGGAGAGGGAGACGGGAGAGG GAGACGGGAGAGGGAGACGGGAGAGGGAGACGGGAGAGGGAGACGGGAGA GGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGACGGGAGAGGGAG ACGGGAGAGGGAGACGGGAGAGGGAGACGGGAGAGGGAGACGGGAGAGGG AGA	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar

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