Joint Open Genome and Omics Platform (JoGo)

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TRPC6_chr11_101446564_101589007	101558386	C C	CATGTATA others(369): Show CATGTATACGGGTATACATGTATACATGTATACATGTATACGGGTATACA TGTATACATGTATACATGTATACGGGTATACATGTATACATGTATACATG TATACGGGTATACATGTATACATGTATACATGTATACGGGTATACATGTA TACATGTATACATGTATACGGGTATACATGTATACATGTATACATGTATA CGGGTATACATGTATACATGTATACATGTATACGGGTATACATGTATACA TGTATACATGTATACGGGTATACATGTATACATGTATACATGTATACGGG TATACATGTATACATGTATACATGTATACGGGTATACATGTATACATGTA TACATGTATATGGGTATACATGTATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0217 a0001c0001t0011g0217	1	252	0.0040	376	c.170 others(395): Show c.170+24947_170+24948insATATACATGTATACCCATATACATGT ATACATGTATACATGTATACCCGTATACATGTATACATGTATACATGTAT ACCCGTATACATGTATACATGTATACATGTATACCCGTATACATGTATAC ATGTATACATGTATACCCGTATACATGTATACATGTATACATGTATACCC GTATACATGTATACATGTATACATGTATACCCGTATACATGTATACATGT ATACATGTATACCCGTATACATGTATACATGTATACATGTATACCCGTAT ACATGTATACATGTATACATGTATACCCGTATACATGTATACATGTATAC ATGTATACCCGTATACATGTATACATGTATACATGTATACCCGTATACAT	TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12			chr11	TogoVar
TRPC6_chr11_101446564_101589007	101558386	C C	CATGTATA others(369): Show CATGTATACGGGTATACATGTATACATGTATACATGTATACGGGTATACA TGTATACATGTATACATGTATACGGGTATACATGTATACATGTATACATG TATACGGGTATACATGTATACATGTATACATGTATACGGGTATACATGTA TACATGTATACATGTATACGGGTATACATGTATACATGTATACATGTATA CGGGTATACATGTATACATGTATACATGTATACGGGTATACATGTATACA TGTATACATGTATACGGGTATACATGTATACATGTATACATGTATACGGG TATACATGTATACATGTATACATGTATATGGGTATACATGTATACATGTA TACATGTATATGGGTATACATGTATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0236 a0001c0002t0004g0236	1	252	0.0040	376	c.170 others(395): Show c.170+24947_170+24948insATATACATGTATACCCATATACATGT ATACATGTATACATGTATACCCATATACATGTATACATGTATACATGTAT ACCCGTATACATGTATACATGTATACATGTATACCCGTATACATGTATAC ATGTATACATGTATACCCGTATACATGTATACATGTATACATGTATACCC GTATACATGTATACATGTATACATGTATACCCGTATACATGTATACATGT ATACATGTATACCCGTATACATGTATACATGTATACATGTATACCCGTAT ACATGTATACATGTATACATGTATACCCGTATACATGTATACATGTATAC ATGTATACCCGTATACATGTATACATGTATACATGTATACCCGTATACAT	TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12			chr11	TogoVar
TTLL8_chr22_50013575_50063298	50057392	G G	GGGTCAGG others(369): Show GGGTCAGGTCTGGGTTGGGGGATCAGGTCTGGATTGTGGGTCAGGTCTGG GTTGGGGTCAGGTCTGGGTTGGGGGGTCAGGTCTGGGTTGAGCGGGAGGT CTGGGTTGGGGGTCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGGTCAG GTCTGGGTTGAGCGGGAGGTCTGGGTTGGGGATCAGGTCTGGGTTGGGGT CAGGTCTGGGTTGGGGTCAGGTCTGGGTTGTGGGTCAGGTCTGGGTTGAG CGGGAGGTCTGGGTTGTGGGTCAGGTCTGGGTTGAGCGGGAGGTCTGGGT TGGGGGTCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGGGGTCAGGTCT GGGTTGAGCGGGAGGTCTGGGTTGTGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02055.hp1 others(16): Show HG01109.hp1 HG01891.hp2 HG02055.hp1 HG02257.hp1 HG02258.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03579.hp2 NA18906.hp1 NA19043.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0007	a0001c0001 a0004c0004 a0005c0005 others(1): Show a0001c0001 a0004c0004 a0005c0005 a0007c0007	a0001c0001t0002 a0004c0004t0001 a0005c0005t0002 others(1): Show a0001c0001t0002 a0004c0004t0001 a0005c0005t0002 a0007c0007t0001	a0001c0001t0002g0007 a0001c0001t0002g0199 a0001c0001t0002g0207 others(14): Show a0001c0001t0002g0007 a0001c0001t0002g0199 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0213 a0004c0004t0001g0206 a0005c0005t0002g0006 a0005c0005t0002g0200 a0005c0005t0002g0201 a0005c0005t0002g0202 a0005c0005t0002g0203 a0005c0005t0002g0204 a0005c0005t0002g0210 a0007c0007t0001g0205 a0007c0007t0001g0211 a0007c0007t0001g0212	19	224	0.0848	376	c.-38 others(391): Show c.-38-420_-38-419insTCACAACCCAGACCTCCCGCTCAACCCAGA CCTGACCCCCCAACCCAGACCTGACCCCAACCCAGACCTGACCCCCAACC CAGACCTCCCGCTCAACCCAGACCTGACCCACAACCCAGACCTCCCGCTC AACCCAGACCTGACCCACAACCCAGACCTGACCCCAACCCAGACCTGACC CCAACCCAGACCTGATCCCCAACCCAGACCTCCCGCTCAACCCAGACCTG ACCCCAACCCAGACCTGACCCCAACCCAGACCTGACCCCCAACCCAGACC TCCCGCTCAACCCAGACCTGACCCCCCAACCCAGACCTGACCCCAACCCA GACCTGACCCACAATCCAGACCTGATCCCCCAACCCAGACCTGACC	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	1/13			chr22	TogoVar
UNC5D_chr8_35230475_35801540	35248332	T T	TATATAAT others(369): Show TATATAATATATAAATATATGTTATATAAGATATATAATATATAAATATA TGTTATATAAGATATATAATATATAAATATATGTTATATAAGATATATAA TATATAAATATATGTTATATAAGATATATAATATATAAATATATGTTATA TAAGATATATAATATATAAATATATGTTATATAAGATATATAATATATAA ATATATGTTATATAAGATATATAATATATAAATATATGTTATATAAGATA TATAATATATAAATATATGTTATATAAGATATATAATATATAAATATATG TTATATAAGATATATAATATATAAATATATGTTATATAAGATATATAATA TATAAATATATGTTATATAAGAAATAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0045 a0001c0002t0008g0045	1	64	0.0156	376	c.103 others(395): Show c.103+12475_103+12476insTATATAATATATAAATATATGTTATA TAAGATATATAATATATAAATATATGTTATATAAGATATATAATATATAA ATATATGTTATATAAGATATATAATATATAAATATATGTTATATAAGATA TATAATATATAAATATATGTTATATAAGATATATAATATATAAATATATG TTATATAAGATATATAATATATAAATATATGTTATATAAGATATATAATA TATAAATATATGTTATATAAGATATATAATATATAAATATATGTTATATA AGATATATAATATATAAATATATGTTATATAAGATATATAATATATAAAT ATATGTTATATAAGAAATAGATATAATATATAAATATATGTTATATAAGA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
VCX3B_chrX_8459830_8471510	8466927	A A	AGGTGTGT others(369): Show AGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGGAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGCGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0003 a0006c0007t0002g0003	2	271	0.0074	376	c.54 others(385): Show c.544_*545insGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGGAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGT	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		418		chrX	TogoVar
VCX_chrX_7838171_7849143	7844275	A A	AGGGAGGG others(369): Show AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0002 a0002c0006t0003g0002	1	341	0.0029	376	c.25 others(385): Show c.259_*260insGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		133		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(369): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0001 a0002c0018t0001	a0002c0018t0001g0296 a0002c0018t0001g0296	1	408	0.0025	376	c.53+ others(391): Show c.53+2076_53+2077insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(369): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCGAT AGATAGATAGATGTATCGATAGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCGATAGATAGATAGATAGATGTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	408	0.0025	376	c.53+ others(391): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCGATAGATAGATAGATGTATCGATAGATAGATAGA TAGATGTATCTATCGATAGATAGATAGATGTATCGATAGATAGATAGATA GATGTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(369): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	408	0.0025	376	c.53+ others(391): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(369): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT TCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0072 a0001c0001t0004g0072	1	326	0.0031	376	c.483 others(391): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF182_chrX_47969851_48008989	47971562	T T	TACACGTG others(369): Show TACACGTGTATACGTATACATATGTATATACACGTGTATACGTATACATA TGTATATACACGTGTATACGTATACATATGTATATACACGTGTATACGTA TACATATGTATATACACGTGTATACGTATACATATGTATATACACGTGTA TACGTATACATATGTATATACACGTGTATACGTATACATATGTATATACA CGTGTATACGTATACATATGTATATACACGTGTATACGTATACATATGTA TATACACGTGTATACGTATACATATGTATATACACGTGTATACGTATACA TATGTATATACACGTGTATACGTATACATATGTATATACACGTGTATACG TATACATATGTATATACACGTGTATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	270	0.0037	376	c.46 others(387): Show c.4604_*4605insGTATACACGTGTATATACATATGTATACGTATAC ACGTGTATATACATATGTATACGTATACACGTGTATATACATATGTATAC GTATACACGTGTATATACATATGTATACGTATACACGTGTATATACATAT GTATACGTATACACGTGTATATACATATGTATACGTATACACGTGTATAT ACATATGTATACGTATACACGTGTATATACATATGTATACGTATACACGT GTATATACATATGTATACGTATACACGTGTATATACATATGTATACGTAT ACACGTGTATATACATATGTATACGTATACACGTGTATATACATATGTAT ACGTATACACGTGTATATACATATGTATACGTATACACGTGT	ZNF182	ENSG00000147118.12	transcript	ENST00000376943.8	protein_coding		3288		chrX	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(369): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATATATCATATATCACA CATATGATATATATCATATATCACACATATGATATATATCATACATATCA CATATATCATATATATCATACATATCACATATATCATATATATCATACAT ATCACATATATGATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	350	0.0029	376	c.-36 others(387): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ATATCATATATCACACATATGATATATATCATATATCACACATATGATAT ATATCATACATATCACATATATCATATATATCATACATATCACATATATC ATATATATCATACATATCACATATATGATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(369): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATACATCATATATCACA CATATGATATATATCATATATCACACATATGATATATATCATATATCACA CATATGATATATATCATATATCACACATATGATATATATCATACATATCA CATATATCATATATATCATACATATCACATATATCATATATATCATACAT ATCACATATATCATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	350	0.0029	376	c.-36 others(387): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ACATCATATATCACACATATGATATATATCATATATCACACATATGATAT ATATCATATATCACACATATGATATATATCATATATCACACATATGATAT ATATCATACATATCACATATATCATATATATCATACATATCACATATATC ATATATATCATACATATCACATATATCATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(369): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATACATCATATATCACA CATATGATATATATCATATATCACACATATGATATATATCATATATCACA CATATGATATATATCATATATCACACATATGATATATATCATACATATCA CATATATCATATATATCATACATATCACATATATCATATATATCATACAT ATCACATATATGATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	350	0.0029	376	c.-36 others(387): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ACATCATATATCACACATATGATATATATCATATATCACACATATGATAT ATATCATATATCACACATATGATATATATCATATATCACACATATGATAT ATATCATACATATCACATATATCATATATATCATACATATCACATATATC ATATATATCATACATATCACATATATGATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(369): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATATATCATATATCACA CATATGATATATATCATATATCACACATATGATATATATCATGTATCACA CATATGATATATATCATATATCACACATATGATATATATCATACATATCA CATATATCATATATATCATACATATCACATATATCATATATATCATACAT ATCACATATATCATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	350	0.0029	376	c.-36 others(387): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ATATCATATATCACACATATGATATATATCATATATCACACATATGATAT ATATCATGTATCACACATATGATATATATCATATATCACACATATGATAT ATATCATACATATCACATATATCATATATATCATACATATCACATATATC ATATATATCATACATATCACATATATCATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(369): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATATATCATATATCA CACATATGATATATATCGTACATATCACATATATCATATATATCGTACAT ATCACATATATCATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0001 a0002c0002t0024g0001	1	350	0.0029	376	c.-36 others(387): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATATATCATATATCACACATATGATATATATCGTACATATCACATATATC ATATATATCGTACATATCACATATATCATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370834	T T	TATGATAT others(369): Show TATGATATATACATCATATATCACACATATGATATACACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATATATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCATACATAT CACATATATCATATATATCATACATATCACATATATCATATATATCATAC ATATCACATATATGATATATATCATATATATCACATATATCATATATATC ATATATATCACATATATCATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 NA18946.hp2 NA18957.hp2 HG02280.hp1 NA18946.hp2 NA18957.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	3	350	0.0086	376	c.-36 others(387): Show c.-3638_-3637insATGATATATACATCATATATCACACATATGATAT ACACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATATATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCATACATATCACATATATCATATATATCATACATATCACATATA TCATATATATCATACATATCACATATATGATATATATCATATATATCACA TATATCATATATATCATATATATCACATATATCATATATATC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3534		chr10	TogoVar
ZNF383_chr19_37213214_37253740	37242104	A A	ATAGATAC others(369): Show ATAGATACTATACTATATATGGTATCTATACTATATATAGTATAGTATCT ATATAGTATCTATACTATATATAGTATAGTATCTATATATAGTATATATA GTTTTCTATACTATATAGTATATATAGTACTATAGTATCTAGATACTATA TATACTATATATACTATATAAGTATACTTTTATAGTATATATAGATACTA CATATAGTATCTATATCTATATATGTCTAAGATATATCATATCTATATAA GTATACTTATATAGTATATATAGATACTATAGTATACTTATATATAGATA CTATAGTATACTTATATAAGTATACTTATATAGATATGTGATATATCTTA GACATATATAGATATAGATACTATATG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0048 a0001c0001t0007g0048	1	404	0.0025	376	c.233 others(391): Show c.233-362_233-361insATACTATACTATATATGGTATCTATACTAT ATATAGTATAGTATCTATATAGTATCTATACTATATATAGTATAGTATCT ATATATAGTATATATAGTTTTCTATACTATATAGTATATATAGTACTATA GTATCTAGATACTATATATACTATATATACTATATAAGTATACTTTTATA GTATATATAGATACTACATATAGTATCTATATCTATATATGTCTAAGATA TATCATATCTATATAAGTATACTTATATAGTATATATAGATACTATAGTA TACTTATATATAGATACTATAGTATACTTATATAAGTATACTTATATAGA TATGTGATATATCTTAGACATATATAGATATAGATACTATATGTAG	ZNF383	ENSG00000188283.12	transcript	ENST00000684119.1	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF383_chr19_37213214_37253740	37242104	A A	ATCTATAC others(369): Show ATCTATACTATATATAGTATAGTATCTATATAGTATCTATACTATATATA GTATAGTATCTATATATAGTATATATAGTTTCTATACTATATAGTATATA TAGTACTATAGTATCTAGATACTATATATACTATATACTATATAAGTATA CTTTATCATAGTATATTATGATACTACATATAGTATCTATATCTATATAT GTCTAAGATATATCATATCTATATAAGTATACTTATAGTATTATATATAG ATACTATCGTATACTTACATATCTAGACTTACTTATATAAGTATTACTTA TATAGTATATGTTATATCTTAGACATATGAGATATAGATATCTAGACTAT ATCTATAGACACTAAGTATACTATATG	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0086 a0003c0004t0086	a0003c0004t0086g0155 a0003c0004t0086g0155	1	404	0.0025	376	c.233 others(391): Show c.233-364_233-363insCTATACTATATATAGTATAGTATCTATATA GTATCTATACTATATATAGTATAGTATCTATATATAGTATATATAGTTTC TATACTATATAGTATATATAGTACTATAGTATCTAGATACTATATATACT ATATACTATATAAGTATACTTTATCATAGTATATTATGATACTACATATA GTATCTATATCTATATATGTCTAAGATATATCATATCTATATAAGTATAC TTATAGTATTATATATAGATACTATCGTATACTTACATATCTAGACTTAC TTATATAAGTATTACTTATATAGTATATGTTATATCTTAGACATATGAGA TATAGATATCTAGACTATATCTATAGACACTAAGTATACTATATGT	ZNF383	ENSG00000188283.12	transcript	ENST00000684119.1	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF674_chrX_46492725_46550421	46523287	T T	TAAAAAAT others(369): Show TAAAAAATAATAAGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	287	0.0035	376	c.238 others(393): Show c.238+5062_238+5063insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAA TTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTATTATTTTTT	ZNF674	ENSG00000251192.8	transcript	ENST00000683375.1	protein_coding	5/5			chrX	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTATATAT others(369): Show TTATATATATATAAATATATATATAAATATATATATATTTATATATATTT ATATATATATATAAATTTATATATATATAAATATATATATATTAATATAT ATATATTTATATATATATAAATATATATATATTTATATATATATATTTAT ATATATATATTTATATATATAAATATATATATAAATATATATATATAAAT ATATATAAATAAATATATATTTATATATATATAAATATATATATATTTAT ATATATAAATATATATATTTATATATATAAATATATATATATTTATATAT AAATATATATATATTTATATATATAAATATATATATTTATATATATAAAT ATATATATTTATATATATAAATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	400	0.0025	376	c.532 others(391): Show c.532+446_532+447insTATATATTTATATATATAAATATATATATT TATATATATAAATATATATATTTATATATATAAATATATATATATTTATA TATAAATATATATATATTTATATATATAAATATATATATTTATATATATA AATATATATATATTTATATATATATAAATATATATTTATTTATATATATT TATATATATATATTTATATATATATTTATATATATAAATATATATATATA AATATATATATATAAATATATATATATTTATATATATATAAATATATATA TATTAATATATATATATTTATATATATATAAATTTATATATATATATAAA TATATATAAATATATATATATTTATATATATATTTATATATATATA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ACTRT2_chr1_3016467_3027903	3016647	A A	AGGAGAGA others(370): Show AGGAGAGAGGAAAGGAAGAAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGA GGAAGGGAGGGAGGGAGGGAGGAAGGGAAGGAGAGAAGGAGAAAGAAGTG AGGAAAGAAGGAGGGAGGGGAGAGAAAATGGAGGAAGGAGGATGGGAACA GGGGAGGGAGAGAAGGAGGAAGGAAGGAGGGAAGGAGATACGTAGGAAGG AAGGAGGGAAAAAGGAAGAGAGAAAGGGAAGGAAGGAGGGAGGAAGGGAG GAAGGAAGGAGAGAGGGAGGGCAGGAGGAGGGGAGGGAGGGAGGAAGGGA AGGGAGGGGAGAGGAAGAGCAGGAGGAAGGTAAGGAGGGAGGAGGGATGG AGAAGGGAGGGAGGGAGGAAGCGAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	366	0.0027	377	c.-50 others(388): Show c.-5040_-5039insGGAGAGAGGAAAGGAAGAAGGGAGGGAGGGAGGA GGGAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAAGGAGAG AAGGAGAAAGAAGTGAGGAAAGAAGGAGGGAGGGGAGAGAAAATGGAGGA AGGAGGATGGGAACAGGGGAGGGAGAGAAGGAGGAAGGAAGGAGGGAAGG AGATACGTAGGAAGGAAGGAGGGAAAAAGGAAGAGAGAAAGGGAAGGAAG GAGGGAGGAAGGGAGGAAGGAAGGAGAGAGGGAGGGCAGGAGGAGGGGAG GGAGGGAGGAAGGGAAGGGAGGGGAGAGGAAGAGCAGGAGGAAGGTAAGG AGGGAGGAGGGATGGAGAAGGGAGGGAGGGAGGAAGCGAGGAG	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4819		chr1	TogoVar
ADAMTS2_chr5_179105853_179350461	179277979	C C	CCTCCGAG others(370): Show CCTCCGAGACCAAAGGCTGACACCCCCCGAGACCAAAGGCTGACCGCCCC CGAGACCAAAGGCTGACCCCCCCGTGAGACCAAAGGCTGACCCCCCCCGA GACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCGCGAGA CCAAAGGCTGACCCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCA AAGGCTGACCCCCCGCGAGACCAAAGGCTGACCCCCCCCCCGAGACCAAA GGCTGACCCCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGG CTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCT GACCCCCCGCGAGACCAAAGGCTGACCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	276	0.0036	377	c.535 others(394): Show c.535-4916_535-4915insGGGTCAGCCTTTGGTCTCGCGGGGGGTC AGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAG CCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGGTCAGCC TTTGGTCTCGGGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGTCAGCCTT TGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCCTTTGG TCTCGCGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTC TCGGGGGGGGTCAGCCTTTGGTCTCACGGGGGGGTCAGCCTTTGGTCTCG GGGGCGGTCAGCCTTTGGTCTCGGGGGGTGTCAGCCTTTGGTCTCGGAG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADGRA1_chr10_133082924_133136675	133111178	A A	AACCACCC others(370): Show AACCACCCCTCCTAATCCCACCAGACAACCTGCCCGCCATGAGCACCTCC CTCCTAATGCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAG ACCACCTGCCCACCACGGGCACCTCCCTCCTAATGCCTCCAGACCACCTG CCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCAC AGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCT CCCTCCTAATGCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTA ATCCCTCCAGACCACCTGCCCACCACAG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0316 a0001c0002t0007g0316	1	368	0.0027	377	c.401 others(394): Show c.401+8336_401+8337insACCACCCCTCCTAATCCCACCAGACAAC CTGCCCGCCATGAGCACCTCCCTCCTAATGCCTCCAGACCACCTGCCCAC CACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCA CCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTC CTAATGCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCC TCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACC ACCTGCCCACCACGGGCACCTCCCTCCTAATGCCTCCAGACCACCTGCCC ACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111307	C C	CCTCCCTC others(370): Show CCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCATCTCCCTC CTAATGCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCC TCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACC ACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCC ACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGG CACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCCC TCCTAATGCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATC CCACCAGACCACCTGCCCACCACAGGCA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0058 a0001c0002t0019g0058	1	368	0.0027	377	c.401 others(394): Show c.401+8466_401+8467insTCCCTCCTAATCCCTCCAGACCACCTGC CCACCACGGGCATCTCCCTCCTAATGCCTCCAGACCACCTGCCCACCACA GACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTC CCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAA TCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCA GACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCT GCCCACCACAGGCACCTCCCTCCTAATGCCTCCAGACCACCTGCCCACCA CAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111686	C C	CTCCCTCC others(370): Show CTCCCTCCTAATGCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCC TAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCA CCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCA CCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCA CCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGC ACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCT CCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCC CACCAGACCACCTGCCCACCACGGGCAT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0004 a0004	a0004c0041 a0004c0041	a0004c0041t0014 a0004c0041t0014	a0004c0041t0014g0062 a0004c0041t0014g0062	1	368	0.0027	377	c.401 others(394): Show c.401+8844_401+8845insTCCCTCCTAATGCCTCCAGACCACCTGC CCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACA GGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTC CCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAA TCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCA GACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCT GCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCA CAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCAT	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ASB5_chr4_176208673_176274222	176218377	A A	ATTTGTAT others(370): Show ATTTGTATGACATATAAATATATATATTTGTATGACATATAAATATATAT ATTTGTATGACATATAAATATATATATTTGTATGATATATAAATATATAT ATTTGTATGATATATAAATATATATATTTGTATGATATATAAATATATAT ATTTGTATGATATATAAATATATATATTTGTATGATATATAAATATATAT ATGTATGATATATAAATATATATATTTGTATGATATATAAATATATATAT TTGTATGATATATAAATATATATATTTGTATGATATATAAATATATATAT ATTTGTATGATATATAAATATATATATATTTGTATGATATATAAATATAT ATATTTGTATGATATACAAATATATATT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0236 a0001c0002t0001g0236	1	410	0.0024	377	c.671 others(394): Show c.671-1369_671-1368insAATATATATTTGTATATCATACAAATAT ATATATTTATATATCATACAAATATATATATATTTATATATCATACAAAT ATATATATATTTATATATCATACAAATATATATATTTATATATCATACAA ATATATATATTTATATATCATACAAATATATATATTTATATATCATACAT ATATATATTTATATATCATACAAATATATATATTTATATATCATACAAAT ATATATATTTATATATCATACAAATATATATATTTATATATCATACAAAT ATATATATTTATATATCATACAAATATATATATTTATATGTCATACAAAT ATATATATTTATATGTCATACAAATATATATATTTATATGTCATACAAA	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(370): Show AATATATATATCATATATGATATATATGAATATATATCATATATGATATA TATGAATATATATATCATATATGATATATATGAATATATATATCATATAT GATATATATGAATATATATATCATATATGATATATATGAATATATATATC ATATATGATATATATATTCATATATATCATATATGATATATATGAATATA TATATCATATATTATATATGATATATATATCATATATGATATATATGAAT ATATATATCATATATGATATATATGAATATATATATCATATATGATATAT ATGAATATATATATCATATATGATATATATATTCATATATATCATATATG ATATATATGAATATATATATCATATATG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0042 a0002c0001t0042	a0002c0001t0042g0158 a0002c0001t0042g0158	1	356	0.0028	377	c.924 others(394): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATGAATATATATATCATATATGATATATATATTCAT ATATATCATATATGATATATATATTCATATATATCATATATGATATATAT ATTCATATATATCATATATGATATATATATCATATATAATATATGATATA TATATTCATATATATCATATATGATATATATGAATATATATATCATATAT GATATATATATTCATATATATCATATATGATATATATATTCATATATATC ATATATGATATATATATTCATATATATCATATATGATATATATATTCATA TATATCATATATGATATATATTCATATATATCATATATGATATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATP10A_chr15_25673712_25868327	25758197	A A	ACTCATTC others(370): Show ACTCATTCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCA CCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTC CACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCAC CTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCG ATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTC ATTCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT CATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC CTAACTCATTCCGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0280 a0003c0003t0002g0280	1	300	0.0033	377	c.655 others(396): Show c.655-22057_655-22056insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGA ATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTG ATCGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGC AGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGG TGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAG GGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGAATGA G	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10B_chr5_160558120_160857211	160652889	T T	TTATACAA others(370): Show TTATACAATATATAATGTATTGCATATAGATTGTACATACGTGTACATAC AATGTATTGCATATAGATTGTACATACGTGTACATACAATGTATTGCATA TAGATTGTACATACGTGTACATACAATGTATTGCATATAGATTGTACATA CGTGTACATACAATGTATTGCATATAGATTGTACATACGTGTACATACAA TGTATTGCATATAGATTGTACATACGTGTACATACAATGTATTGCATATA GATTGTACATACGTGTACATACAATGTATTGCATATAGATTGTACATACG TGTACATACAATGTATTGCATATAGATTGTACATACGTGTACATACAATG TATTGCATATAGATTGTACATACGTGTA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03041.hp1 HG02451.hp2 HG03041.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0004 a0007c0015t0004	a0007c0015t0004g0176 a0007c0015t0004g0187 a0007c0015t0004g0176 a0007c0015t0004g0187	2	236	0.0085	377	c.676 others(394): Show c.676-3634_676-3633insTACACGTATGTACAATCTATATGCAATA CATTGTATGTACACGTATGTACAATCTATATGCAATACATTGTATGTACA CGTATGTACAATCTATATGCAATACATTGTATGTACACGTATGTACAATC TATATGCAATACATTGTATGTACACGTATGTACAATCTATATGCAATACA TTGTATGTACACGTATGTACAATCTATATGCAATACATTGTATGTACACG TATGTACAATCTATATGCAATACATTGTATGTACACGTATGTACAATCTA TATGCAATACATTGTATGTACACGTATGTACAATCTATATGCAATACATT GTATGTACACGTATGTACAATCTATATGCAATACATTATATATTGTATA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112804147	G G	GCCCTCCT others(370): Show GCCCTCCTTCCCCTCCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCATTCC CCTCATTCCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTC TGCCCTCCTTCCCTTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCC CATCCCCTCTCTGCCCTCCTTCCCCTCCTTCCCTCCTTCACCTCCCTCCC CCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCT CCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTC CCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTTCT TCCCTTCCTTCCCTCATTCCCCTCATTC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0236 a0002c0003t0001g0236	1	254	0.0039	377	c.163 others(392): Show c.163-799_163-798insCTCCTTTTCCTCCTTTCTTCCCTTCCTTCC CTCATTCCCCTCATTCCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCAT CCCCTCTCTGCCCTCCTTCCCTTCCTTTTCCTCCTTCCCTCCTTCACCTC CCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTCCCTCCTTCACC TCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTC ACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCC TTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCC TCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCATTCCCCTCCTTCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(370): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCC TCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCC CCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	391	0.0026	377	c.36 others(388): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCC CTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	82971605	T T	TGACCACA others(370): Show TGACCACACCACACCACAGGGGCCAGAAGGACCCGGTACTGACCACACCA CACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGG CCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCTAGAAGGACC TGGTGCCGACCACACCACACCATGGGCCAGAAGGACCTGGTGCCGACCAC ACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACACACCACACCAGGG GCTAGAAGGACCTGGTGCCGACACACCACACCAGGGGCCAGAAGGACCTG GTGCCGACCACACCACACCACGGGCCAGAAGGACCTGGAGCCGACACACC ACACCAGGGGCCAGAAGGACCTGGTGCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02027.hp1 NA19004.hp1 HG00673.hp2 HG02027.hp1 NA19004.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0191 a0001c0008t0005g0203 a0001c0008t0005g0226 a0001c0008t0005g0191 a0001c0008t0005g0203 a0001c0008t0005g0226	3	266	0.0113	377	c.460 others(394): Show c.460-5860_460-5859insGGCACCAGGTCCTTCTGGCCCCTGGTGT GGTGTGTCGGCTCCAGGTCCTTCTGGCCCGTGGTGTGGTGTGGTCGGCAC CAGGTCCTTCTGGCCCCTGGTGTGGTGTGTCGGCACCAGGTCCTTCTAGC CCCTGGTGTGGTGTGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGT GTGGTCGGCACCAGGTCCTTCTGGCCCATGGTGTGGTGTGGTCGGCACCA GGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGG CCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTG TGGTGTGGTCAGTACCGGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BICD1_chr12_32101847_32388633	32252110	A A	ATATTATA others(370): Show ATATTATATATTTATAATAAATATATATTATATATTTATAATAAATATAT ATTATATATTTATTATAAATATATAATATATATTTATAATAAATATTATA TATTATATATTTATTATAAATATATAATATATATTTATAATAAATATTAT ATATTATATATTATATTTATAATAAATATTATATATTATATATTATATTT ATAATAAATATTATATATTATATATTATATTTATAATAAATATTATATAT TATATATTATATTTATAATAAATATTATATATTATATATTATATTTATAA TAAATATTATATATTATATATTATATTTATAATAAATATTCTATATTATA TATTATATTTATAATAAATATTCTATAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	290	0.0035	377	c.426 others(396): Show c.426+35654_426+35655insTATATATTTATAATAAATATATATTA TATATTTATAATAAATATATATTATATATTTATTATAAATATATAATATA TATTTATAATAAATATTATATATTATATATTTATTATAAATATATAATAT ATATTTATAATAAATATTATATATTATATATTATATTTATAATAAATATT ATATATTATATATTATATTTATAATAAATATTATATATTATATATTATAT TTATAATAAATATTATATATTATATATTATATTTATAATAAATATTATAT ATTATATATTATATTTATAATAAATATTATATATTATATATTATATTTAT AATAAATATTCTATATTATATATTATATTTATAATAAATATTCTATATTA T	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRSK2_chr11_1384934_1467689	1435206	A A	AGAGGAGG others(370): Show AGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGG GTCTCGGCGGAGGAGGGGTGCCGGTGGATGTCTCAGCGGAGGAGGGGTGC CGGTGGGGGTCTCAGCGGAGGAGGGGTGCCGGTGGATGTCTCAGCGGAGG AGGGGTGCCGGTGGGGGTCTCAGCGGAGGAGGGGTGCCGGTGGGGGTCTC GGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTG GGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGG TGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGG AGGAGGGGTGCCGGTGGGGGTCTCGGCG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0035 a0002c0002t0035	a0002c0002t0035g0296 a0002c0002t0035g0296	1	360	0.0028	377	c.92- others(390): Show c.92-809_92-808insGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGC GGAGGAGGGGTGCCGGTGGATGTCTCAGCGGAGGAGGGGTGCCGGTGGGG GTCTCAGCGGAGGAGGGGTGCCGGTGGATGTCTCAGCGGAGGAGGGGTGC CGGTGGGGGTCTCAGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGG AGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTC GGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTG GGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGG TGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1435232	A A	AGCGGAGG others(370): Show AGCGGAGGAGGGGTGCCGGTGGATGTCTCAGCGGAGGAGGGGTGCCGGTG GGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGG TGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGG AGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGT CTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCG GTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAG GGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGG CGGAGGAGGGGTGCCGGTGGGGGTCTCG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	360	0.0028	377	c.92- others(390): Show c.92-787_92-786insATGTCTCAGCGGAGGAGGGGTGCCGGTGGGGG TCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCC GGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGA GGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCG GCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGG GGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGT GCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGA GGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1435232	A A	AGCGGAGG others(370): Show AGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTG GGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGG TGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGG AGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGTCGGTGGGGGT CTCGGCGGAGGAGGGGTGTCGGTGGGGGTCTCGGCGGAGGAGGGGTGTCG GTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAG GGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGG CGGAGGAGGGGTGCCGGTGGGGGTCTCG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	360	0.0028	377	c.92- others(390): Show c.92-620_92-619insTCGGTGGGGGTCTCGGCGGAGGAGGGGTGTCG GTGGGGGTCTCGGCGGAGGAGGGGTGTCGGTGGGGGTCTCGGCGGAGGAG GGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGG CGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGG GGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTG CCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAG GAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCT CGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C4orf19_chr4_37448925_37598510	37585193	G G	GGAGGAGA others(370): Show GGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAG AGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGATCAGAGGTGT TGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGG AGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTATTGAGGGAGGGGAG GGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGG GAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGGAGAGA TGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAG AGGAAAGGTGTTGAGGGAGGGGAGGGTA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0056 a0001c0001t0009g0056	1	354	0.0028	377	c.-22 others(394): Show c.-22-3614_-22-3613insGTTGAGGGAGAGGAGGGGAGAGGAGAGG TGTTGAGGGAGGGGAGGGGAGATCAGAGGTGTTGAGGGAGAGGAGGGGAG AGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGG GAGGGGAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTG AGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAG AAATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGG GAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGA GGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGGT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585313	C C	CAGAGGTG others(370): Show CAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGA GGGTAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAG GGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAG GTGTTGAGGGAGAGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGA GAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTATTGAGGGAGG GGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGGTATT GAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGA GAGGTGTTGAGGGAGGGGAGGGGAGAGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0339 a0001c0001t0005g0339	1	354	0.0028	377	c.-22 others(394): Show c.-22-3518_-22-3517insAGGGAGGGGAGAGGAGAGGTGTTGAGGG AGGGGAGGGTAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGT ATTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGA GGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGG AGGGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTATTGA GGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGA GGTATTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGAGGGG AGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGA	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585322	T T	TGAGGGAG others(370): Show TGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGG AGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAG GGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGG GAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGA TGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAG AGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGG GAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTG AGGGAGGGGAGGGGAGAGGAGAGATATC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	354	0.0028	377	c.-22 others(394): Show c.-22-3517_-22-3516insGGGAGGGGAGAGGAGAGGTGTTGAGGGA GAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTG TTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAG GAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGA GGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAG GGAGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAG GTGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGA GAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAG	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585351	T T	TGAGGGAG others(370): Show TGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGG AGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAG GGGAGAGGAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGG GAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGA TATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAG AGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGG GAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTG AGGGAGGGGAGGGGAGAGGAGAGATATC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0045 a0002c0002t0045	a0002c0002t0045g0126 a0002c0002t0045g0126	1	354	0.0028	377	c.-22 others(394): Show c.-22-3488_-22-3487insAGGAGGGGAGAGGAGAGGTGTTGAGGGA GAGGAGGGGAGAGGAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTG TTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAAGGGAGGGGAGAG GAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGA GGGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAG GGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAG GTGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGA GAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAG	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585359	G G	GGGAGGGG others(370): Show GGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTAT TGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGG AGAGGTATTGAGGGAGGGGAGGGTGGAGGAGAGGTATTGAGGGAGGGGAG GGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGG GAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAAA TGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAG AGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAG GAGGGGAGATCAGAGGTGTTGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0283 a0001c0001t0011g0284 a0001c0001t0011g0283 a0001c0001t0011g0284	2	354	0.0057	377	c.-22 others(394): Show c.-22-3452_-22-3451insTAGAGGAGAGGTATTGAGGGAGGGGAGG GGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGG AGGGGAGGGTGGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGGT GTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGA GGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGGG AGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGA GGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGA GGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGG	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585380	T T	TGAGGGAG others(370): Show TGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGG AGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAAGGGAG GGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGG GAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAAAGG TGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAG AGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGG GAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTG AGGGAGGGGAGGGGAGAGGAGAGATATC	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0214 a0002c0002t0004g0214	1	354	0.0028	377	c.-22 others(394): Show c.-22-3459_-22-3458insAGGAGGGGAGAGGAGAGGTGTTGAGGGA GAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTG TTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAG GAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGA GGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAG GGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAG GTGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGA GAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAG	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585409	T T	TGAGGGAG others(370): Show TGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGG AGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAG GGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGG GAGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGG TGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAG AGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGG GAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTG AGGGAGGGGAGGGGAGAGGAGAGATATC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0215 a0003c0003t0005g0215	1	354	0.0028	377	c.-22 others(394): Show c.-22-3430_-22-3429insAGGAGGGGAGATCAGAGGTGTTGAGGGA AGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTA TTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAG GAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGA GGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAG GGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAG GTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGA GAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAG	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585521	A A	ATGTTGAG others(370): Show ATGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGA GAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGA GGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTT GAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGA GAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGG GGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGG AGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGT GTTGAGGGAGGGGAGGGGAGAGGAGAGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	354	0.0028	377	c.-22 others(394): Show c.-22-3288_-22-3287insGAGGGGAGGGGAGAGGAGAGGTGTTGAG GGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAG GTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGA GAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGG GGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTT GAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGA GAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGG GGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGG	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585554	T T	TGAGGGAG others(370): Show TGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGG AGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAGAGGAG GGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGG GAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGG TGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAG AGGAGAAATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGG GAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTG AGGGAGGGGAGGGGAGAGGAGAGACATC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0188 a0001c0001t0005g0188	1	354	0.0028	377	c.-22 others(394): Show c.-22-3288_-22-3287insGAGAGGAGGGGAGAGGAGAGGTGTTGAG GGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAG GTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGA GAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGA GGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTT GAGGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGGA GAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGG GGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGACATCGAGG	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(370): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA GGGAGACGGGGAGAGGGGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGG AGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAG GGAGACGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0159 a0001c0001t0008g0159	1	386	0.0026	377	c.803 others(391): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGA GAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGG AGACGGGGAGAGGGGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAGA GGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGA GACGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CD300A_chr17_74461634_74489794	74482697	C C	CCTTCCTT others(370): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTC TTCCTTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCTCTCTTTCTCTCTT TTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTCTTTCTCTCT TTCTCTCTCTTTCTCTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0244 a0002c0003t0004g0244	1	424	0.0024	377	c.774 others(392): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTTCTTCCTTTCTTTCCTTCTTTCCTTCTTTCCTTCTT TCTCTCTTTCTCTCTTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTT CTCTCTCTTTCTCTCTTTCTCTCTCTTTCTCTCTCTTTCTCTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CELF2_chr10_11012872_11341675	11283874	T T	TGGATGGA others(370): Show TGGATGGAGGGGTGGGTGGATGATGGGTGAGTGTGTGGTGGGTGGATGAG GGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGTGTGGTGGGTGGATG AGGGATGAGTGTGTGGTGGGGGGATGAGGGATGAGTGTGTGGTGGGTGGA TGAGGGATGAGTGTGTGGTAAGTGGATGATGGATGGAGGGGTGGGTGGAT GATGGATGAGTGTGTGGTAGGTGGATGATGGATGAGTGTGTGGTGGGTGG ATGAGGGATGAGTGGTGGGTGGATGATGGATGAGTGTGTGGTGAGTGGAT GAGGGATGAGTGTGTGGTGGGTGGATGAGGGATGGAGGGGTGGGTGGATG ATGGATGACTGTGTGGTAGGTGGATGAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00621.hp1 others(17): Show HG00423.hp2 HG00544.hp1 HG00621.hp1 HG01099.hp1 HG01358.hp1 HG01433.hp1 HG01891.hp2 HG01981.hp1 HG02074.hp1 HG02080.hp1 HG02300.hp2 HG02615.hp2 HG03139.hp2 HG03540.hp2 HG03834.hp1 HG04204.hp2 NA18906.hp1 NA19002.hp2 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0020 a0001c0001t0022 a0001c0001t0026 a0001c0001t0028 a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0001c0002t0045 a0001c0003t0001 a0001c0003t0015 a0001c0004t0001 a0001c0004t0011 a0001c0004t0027	a0001c0001t0001g0175 a0001c0001t0002g0172 a0001c0001t0012g0079 others(17): Show a0001c0001t0001g0175 a0001c0001t0002g0172 a0001c0001t0012g0079 a0001c0001t0020g0036 a0001c0001t0022g0017 a0001c0001t0026g0065 a0001c0001t0028g0192 a0001c0002t0001g0102 a0001c0002t0001g0126 a0001c0002t0001g0184 a0001c0002t0002g0090 a0001c0002t0002g0128 a0001c0002t0014g0050 a0001c0002t0045g0099 a0001c0003t0001g0133 a0001c0003t0015g0132 a0001c0004t0001g0077 a0001c0004t0001g0124 a0001c0004t0011g0122 a0001c0004t0027g0066	20	194	0.1031	377	c.842 others(394): Show c.842-4519_842-4518insGTGAGTGTGTGGTGGGTGGATGAGGGAT GAGTGTGTGGTGGGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGAGGG ATGAGTGTGTGGTGGGGGGATGAGGGATGAGTGTGTGGTGGGTGGATGAG GGATGAGTGTGTGGTAAGTGGATGATGGATGGAGGGGTGGGTGGATGATG GATGAGTGTGTGGTAGGTGGATGATGGATGAGTGTGTGGTGGGTGGATGA GGGATGAGTGGTGGGTGGATGATGGATGAGTGTGTGGTGAGTGGATGAGG GATGAGTGTGTGGTGGGTGGATGAGGGATGGAGGGGTGGGTGGATGATGG ATGACTGTGTGGTAGGTGGATGAGGGATGGAGGGGTGGGTGGATGATGG	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP61_chr20_20047532_20365698	20356647	C C	CTGAGGGG others(370): Show CTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCATAGTGTGAGGGGAGGTGGTCACACTGGGGAGGTGGTCACACTGTG AGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTG GTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCACAGTGTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGT AGTCACACTGAGGGGAGGGGGTCATACTGCGAGTGGAGTTAGTCACACTG TGAAGGGTGGTAGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTG GTCACACTGAGGGGAGGTGGTCATACTG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0104 a0002c0009t0002g0106 a0002c0009t0002g0104 a0002c0009t0002g0106	2	236	0.0085	377	c.351 others(396): Show c.3514-3528_3514-3527insCACTGAGGGGAGGTGGTCATAGTGTG AGGGGAGGTGGTCACACTGGGGAGGTGGTCACACTGTGAGGGGAGGTGGT CACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAGG GGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAC AGTGTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACACTGAG GGGAGGGGGTCATACTGCGAGTGGAGTTAGTCACACTGTGAAGGGTGGTA GTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGG GGAGGTGGTCATACTGTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTC A	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar

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