Joint Open Genome and Omics Platform (JoGo)

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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

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
CROCC2_chr2_240901336_240998311	240923910	C C	CACACTAA others(238): Show CACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCC CCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAG TCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCG GCCCCCCACACTAACCCGGCCCCCCACACTAACGCAGTCCCCCACACTAA CCCAGTCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0124 a0012c0013t0001g0124	1	350	0.0029	245	c.488 others(262): Show c.488+1277_488+1278insTCCCCACACTAACCCAGTCCCCACACTA ACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACA CTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCAC ACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACGCAGTCCC CCACACTAACCCAGTCCCCCACACTAACCCAGCCCCCACACTGACCCGGC CCCCAACACTAACCCAG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924311	C C	CACACTAA others(238): Show CACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGC CCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCC GGCCCCCCACACTAACCCGGCCCCCAACACTAACCCGGCCCCCACACTAA CCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACT AACCCGGCCCCCCACACTAACCCAGCCCTCACACTAACCCAGCCCT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0264 a0002c0002t0002g0264	1	350	0.0029	245	c.489 others(262): Show c.489-1413_489-1412insACACTAACCCGGCCCCCCACACTAACCC GGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAA CCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCAACA CTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCA CACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCT CACACTAACCCAGCCCT	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924359	G G	GTCCCCCA others(238): Show GTCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAAC CCGGCCCCCCACACTAACCCAGCCCTCACACTAACCCAGCCCCCACACTA ACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACA CTAACCCGGCCCCCACACTGACCCAGCCCCCACACTAACCCTAACCCCAC ACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01358.hp2 HG01074.hp1 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0259 a0002c0002t0002g0276 a0002c0002t0002g0259 a0002c0002t0002g0276	2	350	0.0057	245	c.489 others(262): Show c.489-1365_489-1364insTCCCCCACACTAACCCGGCCCCCACACT AACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCTCAC ACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCC ACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTGACCCAGCCC CCACACTAACCCTAACCCCACACTAACCCGGCCCCCACACTAACCCGGCC CCCCACACTAACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461517	G G	GGCTGTAT others(238): Show GGCTGTATCCGCACAGCACACACATTCACCGTGGAGGGCGTATCCGCACA GCGGCCACATTCACCATGGAGGGCCTATCCACACAGCGGCCACATTCACC ATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCC GCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACAT TCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00597.hp1 others(39): Show HG00140.hp1 HG00323.hp1 HG00597.hp1 HG00642.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp2 HG01975.hp2 HG01993.hp1 HG02132.hp1 HG02293.hp2 HG02523.hp1 HG03017.hp2 HG03195.hp1 HG03209.hp2 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 NA18747.hp2 NA18941.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18992.hp1 NA19011.hp2 NA19057.hp1 NA19057.hp2 NA19066.hp2 NA19091.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0033 a0001c0001t0035 a0001c0002t0002	a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0025 others(39): Show a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0083 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0192 a0001c0001t0001g0214 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0002g0059 a0001c0001t0002g0086 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0218 a0001c0001t0006g0005 a0001c0001t0006g0028 a0001c0001t0006g0102 a0001c0001t0006g0114 a0001c0001t0006g0118 a0001c0001t0010g0122 a0001c0001t0010g0150 a0001c0001t0010g0231 a0001c0001t0014g0058 a0001c0001t0033g0044 a0001c0001t0035g0207 a0001c0002t0002g0164	42	238	0.1765	245	c.635 others(262): Show c.635-2876_635-2875insATCCATGGTGAATGTGGCCGCTGTGCGG ATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGG TGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTG TGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGTGGATAGGCCCTC CATGGTGAATGTGGCCGCTGTGCGGATACGCCCTCCACGGTGAATGTGTG TGCTGTGCGGATACAGC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461517	G G	GGCTGTAT others(238): Show GGCTGTATCCGCACAGCACACACATTCACCGTGGAGGGCGTATCCGCACA GCGGCCACATTCACCATGGAGGGCCTATCCACACAGTGGCCACATTCACC ATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCC GCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACAT TCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	238	0.0042	245	c.635 others(262): Show c.635-2876_635-2875insATCCATGGTGAATGTGGCCGCTGTGCGG ATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGG TGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTG TGCGGATACGCCCCCCATGGTGAATGTGGCCACTGTGTGGATAGGCCCTC CATGGTGAATGTGGCCGCTGTGCGGATACGCCCTCCACGGTGAATGTGTG TGCTGTGCGGATACAGC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461517	G G	GGCTGTAT others(238): Show GGCTGTATCCGCACAGCACACACATTCACCGTGGAGGGCGTATCCGCACA GCGGCCACATTCACCGTGGAGGGCCTATCCGCACAGCGGCCACATTCACC ATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCC GCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACAT TCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGAT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	238	0.0042	245	c.635 others(262): Show c.635-2876_635-2875insATCCATGGTGAATGTGGCCGCTGTGCGG ATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGG TGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTG TGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATAGGCCCTC CACGGTGAATGTGGCCGCTGTGCGGATACGCCCTCCACGGTGAATGTGTG TGCTGTGCGGATACAGC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461674	G G	GGCCACAT others(238): Show GGCCACATTCACCATGGATGGCGTATCCGCACAGCGGCCACATTCACCAT GGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGC ACAGCGGCCACATTCACCGTGGGGGGCGTATCCGCACAGCGGCCACATTC ACCGTGGGGGGCGTATCCGCACAGCGGCCACATTCACCGTGGGGGGCATA TCCGCACAGCGGCCACATTTACCATGGATGGCGTATCCGCACAGCA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG03492.hp2 HG01069.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0211 a0001c0001t0001g0198 a0001c0001t0001g0211	2	238	0.0084	245	c.635 others(262): Show c.635-3033_635-3032insTGCTGTGCGGATACGCCATCCATGGTAA ATGTGGCCGCTGTGCGGATATGCCCCCCACGGTGAATGTGGCCGCTGTGC GGATACGCCCCCCACGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCAC GGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGC TGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCA TCCATGGTGAATGTGGC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSTPP1_chr11_46931761_47167247	47036036	T T	TAAAAGTG others(238): Show TAAAAGTGGGATAGATATAAAGGTCACTTATCTAAGAATTTTTTTTGTCC ATGTTTTACTTTTGGAACTATGTTAATATTTCATTTACATGAGTAAGTAT ATATATATTATATATGTTATTTTATATATATATTATATATATGATATATG ATATATTATAATATATTATATATGATATTATATTATATTATATATTATAT CATATATATTATATTATATATAATATTATATATTATATTATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	224	0.0045	245	c.150 others(264): Show c.150-16351_150-16350insAAAGTGGGATAGATATAAAGGTCACT TATCTAAGAATTTTTTTTGTCCATGTTTTACTTTTGGAACTATGTTAATA TTTCATTTACATGAGTAAGTATATATATATTATATATGTTATTTTATATA TATATTATATATATGATATATGATATATTATAATATATTATATATGATAT TATATTATATTATATATTATATCATATATATTATATTATATATAATATTA TATATTATATTATATATAA	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CTNNA2_chr2_79508051_80653780	80634516	T T	TGTGAAGA others(238): Show TGTGAAGACCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG03688.hp2 HG02148.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0010 a0001c0001t0001g0011	2	68	0.0294	245	c.257 others(266): Show c.2575-13055_2575-13054insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACT GCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCA CCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTT GTTAGCCGTGAAGACCATTTT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYBRD1_chr2_171517474_171563129	171558477	T T	TTAATATT others(238): Show TTAATATTATGTATTTATATATAATATGTAATATTATATATTTATATATA ATATGTAATATTATATATTTATATATAATATGTAATATTATATATATATA ATATGTAATATTATATATATATAATATGTAATATTATATATATATAATAT GTAATATTATATATATATAATATGTAATATTATATATATATAATATGTAA TATTATATATATATAATATGTAATATTATATATATATAATATGTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 NA19090.hp1 HG00741.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0021 a0001c0001t0007 a0001c0001t0021	a0001c0001t0007g0309 a0001c0001t0021g0300 a0001c0001t0007g0309 a0001c0001t0021g0300	2	394	0.0051	245	c.36 others(256): Show c.3650_*3651insTAATATTATGTATTTATATATAATATGTAATATT ATATATTTATATATAATATGTAATATTATATATTTATATATAATATGTAA TATTATATATATATAATATGTAATATTATATATATATAATATGTAATATT ATATATATATAATATGTAATATTATATATATATAATATGTAATATTATAT ATATATAATATGTAATATTATATATATATAATATGTAATATTATATATAT ATAATATGTAA	CYBRD1	ENSG00000071967.12	transcript	ENST00000321348.9	protein_coding		349		chr2	TogoVar
CYBRD1_chr2_171517474_171563129	171558477	T T	TTAATATT others(238): Show TTAATATTATGTATTTATATATAATATGTAATATTATATATTTATATATA ATATGTAATATTATATATTTATATATAATATGTAATATTATATATATATA ATATGTAATATTATATATATATAATATGTAATATTATATATATATAATAT TACATATTATATATATATAATATGTAATATTATATATATATAATATGTAA TATTATATATATATAATATGTAATATTATATATATATAATATGTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02015.hp1 others(1): Show HG01070.hp2 HG01071.hp2 HG02015.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0040 a0001c0001t0007g0275 a0001c0001t0007g0303 others(1): Show a0001c0001t0007g0040 a0001c0001t0007g0275 a0001c0001t0007g0303 a0001c0001t0007g0306	4	394	0.0102	245	c.36 others(256): Show c.3650_*3651insTAATATTATGTATTTATATATAATATGTAATATT ATATATTTATATATAATATGTAATATTATATATTTATATATAATATGTAA TATTATATATATATAATATGTAATATTATATATATATAATATGTAATATT ATATATATATAATATTACATATTATATATATATAATATGTAATATTATAT ATATATAATATGTAATATTATATATATATAATATGTAATATTATATATAT ATAATATGTAA	CYBRD1	ENSG00000071967.12	transcript	ENST00000321348.9	protein_coding		349		chr2	TogoVar
CYSLTR1_chrX_78266468_78332611	78269072	A A	ATATTATA others(238): Show ATATTATATATATTATATAATATATATAATATATATAATATATATAATAT ATAATATATTATTATATATATTATAAATTATATAATATATATAATATATA TATATATATATATATATAATTATATATTATATTATATATATATAATATAT ATAATTATTATATATAATATATTATATAATATATAATATATAATATAATA TATATAATATATAATATATATATTATATATAATATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0123 a0003c0007t0006g0123	1	240	0.0042	245	c.36 others(256): Show c.3660_*3661insATATATATTATATATTATATATAATATATATATT ATATATTATATATATTATATTATATATTATATATTATATAATATATTATA TATAATAATTATATATATTATATATATATAATATAATATATAATTATATA TATATATATATATATATATTATATATATTATATAATTTATAATATATATA ATAATATATTATATATTATATATATTATATATATTATATATATTATATAA TATATATAATA	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2395		chrX	TogoVar
DCAF10_chr9_37795797_37872664	37808748	A A	ATATATAA others(238): Show ATATATAAAGTATATATTTATATAAATATATATTTATATAATATATATTA TATAAATATATATTATATATAATATATATTTATATAATATATATTATATA TAATATATATTTATATAATATATATTTATAAAAATATATTTATATATAAT ATATATTATATATAATATATATTATATAAATATATATTATATAAAATATA TATTTATATAAAAATGTATTATATTATATATTATATAAATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18522.hp1 NA19030.hp1 HG02451.hp2 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0008g0044 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0008g0044	3	356	0.0084	245	c.539 others(262): Show c.539+7345_539+7346insTATAAAGTATATATTTATATAAATATAT ATTTATATAATATATATTATATAAATATATATTATATATAATATATATTT ATATAATATATATTATATATAATATATATTTATATAATATATATTTATAA AAATATATTTATATATAATATATATTATATATAATATATATTATATAAAT ATATATTATATAAAATATATATTTATATAAAAATGTATTATATTATATAT TATATAAATATATATTA	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCLK2_chr4_150073445_150262438	150251147	C C	CCCACACC others(238): Show CCCACACCCCCCACACCCCCCACACACCCCCCACACCACACATCCCTCAC ACCCCCCACATCCCCCACACCCCCATCCCCCACACCCCCCACACACCCCC CACACCACACATCCCCCACACCCCCCACATCCCCCACACCCCCCACACCC CCACACCCCCCACACACCCCCCACACCACACATCCCCCACACCACACATC CCCCACACCCCCCACATCCCCCACACCCCCCCACACACCCCCCACA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	116	0.0086	245	c.207 others(264): Show c.2073+1469_2073+1470insCCCCCACACCCCCCACACACCCCCCA CACCACACATCCCTCACACCCCCCACATCCCCCACACCCCCATCCCCCAC ACCCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACATCCC CCACACCCCCCACACCCCCACACCCCCCACACACCCCCCACACCACACAT CCCCCACACCACACATCCCCCACACCCCCCACATCCCCCACACCCCCCCA CACACCCCCCACACCACAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DEAF1_chr11_639233_700222	685805	C C	CAGGAGAT others(238): Show CAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAAGTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCACGCCACTGCACTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	345	0.0029	245	c.805 others(260): Show c.805-843_805-842insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAGTGCAGTGGCGTG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TACTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	5/11			chr11	TogoVar
DFFB_chr1_3852476_3890429	3868664	A A	ACCACACC others(238): Show ACCACACCAGGCCACACCACACCAAGCCACACCACACCAGGCCACACCAC ACCATACCACACCACACCAGGCCACACCACACCATACCACACCACACCAG GCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCAC ACCACACCAGGCCACACCACACCAGGCCACACCACACCACACCACACCAC GCCACACCACACCAGGCCACACCACACCAGGCCACACCACACCACG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG04204.hp2 HG02735.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0105 a0001c0001t0001g0048 a0001c0001t0001g0105	2	404	0.0050	245	c.510 others(260): Show c.510+619_510+620insGGCCACACCACACCAAGCCACACCACACCA GGCCACACCACACCATACCACACCACACCAGGCCACACCACACCATACCA CACCACACCAGGCCACACCACACCAAGCCACACCACACCAGGCCACACCA CACCATACCACACCACACCAGGCCACACCACACCAGGCCACACCACACCA CACCACACCACGCCACACCACACCAGGCCACACCACACCAGGCCACACCA CACCACGCCACACCA	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DFFB_chr1_3852476_3890429	3868664	A A	ACCACACC others(238): Show ACCACACCAGGCCACGCCACACCAAGCCACACCACACCAGGCCACACCAC ACCAGGCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCAT ACCACACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCAC ACCACACCAAGCCACACCACACCAGGCCACACCACACCAGGCCACACCAC ACCACACCACACCACGCCACACCACACCAGGCCACACCACACCACG	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18906.hp2 HG02015.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0003 a0001c0003t0002 a0001c0003t0003	a0001c0003t0002g0138 a0001c0003t0003g0079 a0001c0003t0002g0138 a0001c0003t0003g0079	2	404	0.0050	245	c.510 others(260): Show c.510+619_510+620insGGCCACGCCACACCAAGCCACACCACACCA GGCCACACCACACCAGGCCACACCACACCAAGCCACACCACACCAGGCCA CACCACACCATACCACACCACACCAGGCCACACCACACCATACCACACCA CACCAGGCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCA GGCCACACCACACCACACCACACCACGCCACACCACACCAGGCCACACCA CACCACGCCACACCA	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DGAT1_chr8_144309584_144331852	144313788	G G	GCGCCGCC others(238): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCG CCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCG CGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCT CCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCC CCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	370	0.0027	245	c.27 others(256): Show c.2765_*2766insAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAG GCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGC GGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGCGCGGGGAGGCGGCGC GGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGGGAGGCGGCGCGGG GAGGCGGGGAGGCGGCGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCG GGGAGGCGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		795		chr8	TogoVar
DIP2C_chr10_269201_694668	321531	G G	GGGGGCTC others(238): Show GGGGGCTCCAGTGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGC GGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCG GGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGG GGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGG GGTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0019 a0001c0008t0001g0019	1	88	0.0114	245	c.392 others(264): Show c.3924+5474_3924+5475insGCACCCCCGACTGACTGTTCTAACAG CGCCGGTCTCTCGCTGGACCCCCGCACCCCCGACTGACTGTTCTAACAGC GCCGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCG CCGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGC CGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCC GGTCTCTCACTGGAGCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322424	C C	CGAGAGAC others(238): Show CGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCAGC GAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCAGTG AGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGTGA GAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGCGAG AGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0068 a0001c0004t0001g0068	1	88	0.0114	245	c.392 others(264): Show c.3924+4581_3924+4582insACTGGAGCCCCGCACCCCCGACTGAC TGTTCTAACAGCGCCGGTCTCTCGCCGCACCCCCGCACCCCCGACTGACT GTTCTAACAACGCCGGTCTCTCACTGGAGCCCCGCACCCCCGACTGACTG TTCTAACAGCGCCGGTCTCTCACTGGACCCCCGCACCCCCGACTGACTGT TCTAACAACGCCGGTCTCTCGCTGGACCCCCGCACCCCCGACTGACTGTT CTAACAACGCCGGTCTCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478386	G G	GGGAAGAA others(238): Show GGGAAGAAGAAGGGAGGGTGGGGGAGGGGTGGGAAGAAGGGAGGGGAGGG GGAGAAGAAGGGAGGGGAGGGGAGGGGAGAAGGGAGAAGAAGGGATGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGTGAGGAAGGGAGGGGAAGGGA GGGGAGAGGAGGAGAGAAGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGG AGAGGGGCGGGGCGGGGCGGGGCGGGGCAGGGAGGGGAGGGGCGAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	88	0.0114	245	c.158 others(262): Show c.158-5838_158-5837insTTCGCCCCTCCCCTCCCTGCCCCGCCCC GCCCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCC TTCTCTCCTCCTCTCCCCTCCCTTCCCCTCCCTTCCTCACCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCATCCCTTCTTCTCCCTTCTCCCCTCCCC TCCCCTCCCTTCTTCTCCCCCTCCCCTCCCTTCTTCCCACCCCTCCCCCA CCCTCCCTTCTTCTTCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478386	G G	GGGGAGAG others(238): Show GGGGAGAGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAGGAGGCGAGGGGA GAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGA GGGGAGGGGAGGGGAGAAGAAGGGAGAAGAAGGGAAGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAAGGGAGGGGAGAGGAGGAGAGAAGG AGAGGGGCGGGGCGGGGCAGGGCGGGGCAGGGAGGGGAGGGGCGAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA19007.hp1 HG02155.hp2 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0002 a0001c0002t0003 a0001c0003t0002	a0001c0002t0003g0029 a0001c0003t0002g0032 a0001c0002t0003g0029 a0001c0003t0002g0032	2	88	0.0227	245	c.158 others(262): Show c.158-5838_158-5837insTTCGCCCCTCCCCTCCCTGCCCCGCCCT GCCCCGCCCCGCCCCTCTCCTTCTCTCCTCCTCTCCCCTCCCTTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCCTTCTTCTCCCTTC TTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCTTCTTCTCCCCTCGCCTCCTCTCCCCTCCCTTCTTCTC CCCTCCCCTCCTCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608564	C C	CCACACAC others(238): Show CCACACACACACCCCCCCCACACACACACACATCCCCCCCCACACACACA CACACACATCCCCCCCCACACACACACACATCCCCCCCCACACACACACC CCCCCCCCACACACATCCCCCCCCACACACACACACATCCCCCCCCACAC ACACACATCCCCCCCCACACACACACATCCCCCCCACACACACACACATC CCCCCCCACACACACACATCCCCCCCCACACACACATCCCCCCCCA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	88	0.0114	245	c.85+ others(262): Show c.85+80929_85+80930insTGGGGGGGGATGTGTGTGTGGGGGGGGA TGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGTGGGGGGGATGTGTGTGT GTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGTGGGGGG GGATGTGTGTGGGGGGGGGGTGTGTGTGTGGGGGGGGATGTGTGTGTGTG TGGGGGGGGATGTGTGTGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGTG GGGGGGGTGTGTGTGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DNAH8_chr6_38710311_39035792	38964350	G G	GGACGGGG others(238): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCG GACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03209.hp2 HG03453.hp2 others(2): Show HG01255.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 NA19030.hp2	a0016 a0032 a0016 a0032	a0016c0044 a0016c0093 a0032c0046 a0016c0044 a0016c0093 a0032c0046	a0016c0044t0001 a0016c0093t0001 a0032c0046t0001 a0016c0044t0001 a0016c0093t0001 a0032c0046t0001	a0016c0044t0001g0162 a0016c0044t0001g0230 a0016c0093t0001g0011 others(2): Show a0016c0044t0001g0162 a0016c0044t0001g0230 a0016c0093t0001g0011 a0032c0046t0001g0048 a0032c0046t0001g0049	5	284	0.0176	245	c.124 others(266): Show c.12452-7241_12452-7240insACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCG	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	82/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DPH1_chr17_2025153_2048898	2035415	G G	GCGGGGGT others(238): Show GCGGGGGTCCAGGCGAGGGGGCCCTGCCTGTGGTGGGGAGGGGGTGGGGG CCCTGCCTGTGGTGGGGAGGGAGTGGGGGTCCGGACGAGAGGGCCCTGCC TGTGGTGGGGAGGTAGTGGGGGTCCGGACGAGAGGGCCCTGCCTGCGGTG GGGAGGTAGTGGGGGTCCGGACGAGAGGGCCCTGCCTGTGGTGGGGAGGT AGTGGGGGTCCGGACGAGAGGGCCCTGCCTGCGGTGGGGAGGTAGT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0222 a0001c0002t0001g0222	1	392	0.0026	245	c.279 others(260): Show c.279-555_279-554insCGGGGGTCCAGGCGAGGGGGCCCTGCCTGT GGTGGGGAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGGAGTGGGGGTC CGGACGAGAGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGACGA GAGGGCCCTGCCTGCGGTGGGGAGGTAGTGGGGGTCCGGACGAGAGGGCC CTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGACGAGAGGGCCCTGCCTG CGGTGGGGAGGTAGT	DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12			chr17	TogoVar
DYM_chr18_49031387_49465645	49440646	T T	TATATGAC others(238): Show TATATGACTATATATTATATATTTATATATGACTATATATTATATATATA ATATATGACTATATATTATATATATAACATATGACTATATATTATATATA TATAACATATGACTATATATTATATATATATAACATATGACTATATATTA TATATATATAACATATGACTATATATTATATATATATAACATATGACTAT ATATTATATATATATAACATATGACTATATATTATATATATATAAC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0096	1	290	0.0035	245	c.-53 others(264): Show c.-53-10200_-53-10199insGTTATATATATATAATATATAGTCAT ATGTTATATATATATAATATATAGTCATATGTTATATATATATAATATAT AGTCATATGTTATATATATATAATATATAGTCATATGTTATATATATATA ATATATAGTCATATGTTATATATATATAATATATAGTCATATGTTATATA TATAATATATAGTCATATATTATATATATAATATATAGTCATATATAAAT ATATAATATATAGTCATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EBF3_chr10_129830233_129969274	129920273	G G	GAGTATCT others(238): Show GAGTATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCC AGTATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCGA GTATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCCAG TATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCAGTCTAGGGCGAGT ATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG02258.hp2 others(7): Show HG00140.hp2 HG00544.hp2 HG02258.hp2 HG02698.hp1 HG02976.hp2 HG03654.hp1 HG03688.hp2 HG03834.hp1 NA19030.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 a0001c0001t0026 a0001c0001t0033 a0002c0003t0053	a0001c0001t0001g0085 a0001c0001t0001g0132 a0001c0001t0001g0283 others(7): Show a0001c0001t0001g0085 a0001c0001t0001g0132 a0001c0001t0001g0283 a0001c0001t0002g0050 a0001c0001t0010g0326 a0001c0001t0012g0021 a0001c0001t0012g0205 a0001c0001t0026g0337 a0001c0001t0033g0015 a0002c0003t0053g0332	10	338	0.0296	245	c.554 others(264): Show c.554+36984_554+36985insGGCCCTAGACCGCACAGCGGGGCGGG TTTGTGGCCCTCCTGGAGATACTCGCCCTAGACTGCACAGCGGGGCGGGT TTGTGGCCCTCCTGGAGATACTGGCCCTAGACCGCACAGCGGGGCGGGTT TGTGGCCCTCCTGGAGATACTCGCCCTAGACCGCACAGCGGGGCGGGTTT GTGGCCCTCCTGGAGATACTGGCCCTAGACCGCACAGCGGGGCGGGTTTG TGGCCCTCCTGGAGATACT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129920273	G G	GAGTATCT others(238): Show GAGTATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCC AGTATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCGA GTATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCCAG TATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCGAGT ATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03098.hp2 HG02809.hp1 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0002c0003t0024 a0001c0001t0007 a0002c0003t0024	a0001c0001t0007g0131 a0002c0003t0024g0331 a0001c0001t0007g0131 a0002c0003t0024g0331	2	338	0.0059	245	c.554 others(264): Show c.554+36984_554+36985insGGCCCTAGACCGCACAGCGGGGCGGG TTTGTGGCCCTCCTGGAGATACTCGCCCTAGACCGCACAGCGGGGCGGGT TTGTGGCCCTCCTGGAGATACTGGCCCTAGACCGCACAGCGGGGCGGGTT TGTGGCCCTCCTGGAGATACTCGCCCTAGACCGCACAGCGGGGCGGGTTT GTGGCCCTCCTGGAGATACTGGCCCTAGACCGCACAGCGGGGCGGGTTTG TGGCCCTCCTGGAGATACT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
ELOVL6_chr4_110040846_110203615	110083967	G G	GATATAAC others(238): Show GATATAACATATGCTATATATCATATATATCATATATAACATATGTTATA TATGATATATATGATATATAGCATATGTTATATATTATATATAACATATA TATGATATATAACATATGTTATATATGATATATAACATATGTTATATATG ATATATAACATATGTTATATATCATATATGTTATACATCATATATGTTAT ATATCATATATGTTATATATCATATATAACATATGCCATATACGAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0269 a0001c0001t0010g0269	1	338	0.0030	245	c.221 others(264): Show c.221+21529_221+21530insATCGTATATGGCATATGTTATATATG ATATATAACATATATGATATATAACATATATGATGTATAACATATATGAT ATATAACATATGTTATATATCATATATAACATATGTTATATATCATATAT AACATATGTTATATATCATATATATGTTATATATAATATATAACATATGC TATATATCATATATATCATATATAACATATGTTATATATGATATATATGA TATATAGCATATGTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110083967	G G	GATATAAC others(238): Show GATATAACATATGCTATATATCATATATATCATATATAACATATGTTATA TATGATATATATGATATATAGCATATGTTATATATTATATATAACATATA TATGATATATAACATATGTTATATATGATATATAACATATGTTATATATG ATATATAACATATGTTATATATCATATATGTTATATATCATATATGTTAT ATATCATATATGTTATATATCATATATAACATATGCCATATACGAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00597.hp2 others(23): Show HG00438.hp2 HG00544.hp2 HG00597.hp2 HG01070.hp2 HG01346.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02071.hp1 HG02074.hp1 HG02132.hp1 HG02155.hp1 NA18964.hp2 NA18970.hp1 NA18974.hp2 NA18984.hp2 NA18985.hp1 NA18988.hp2 NA19000.hp2 NA19002.hp1 NA19060.hp2 NA19064.hp1 NA19074.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0048 a0001c0001t0049 a0001c0001t0061 a0001c0001t0071	a0001c0001t0001g0199 a0001c0001t0003g0050 a0001c0001t0003g0051 others(23): Show a0001c0001t0001g0199 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0053 a0001c0001t0003g0084 a0001c0001t0003g0094 a0001c0001t0003g0102 a0001c0001t0003g0135 a0001c0001t0003g0175 a0001c0001t0003g0188 a0001c0001t0003g0198 a0001c0001t0003g0255 a0001c0001t0003g0259 a0001c0001t0003g0267 a0001c0001t0003g0310 a0001c0001t0003g0313 a0001c0001t0003g0318 a0001c0001t0006g0200 a0001c0001t0010g0181 a0001c0001t0010g0187 a0001c0001t0010g0317 a0001c0001t0010g0322 a0001c0001t0048g0081 a0001c0001t0049g0097 a0001c0001t0061g0083 a0001c0001t0071g0075	26	338	0.0769	245	c.221 others(264): Show c.221+21529_221+21530insATCGTATATGGCATATGTTATATATG ATATATAACATATATGATATATAACATATATGATATATAACATATATGAT ATATAACATATGTTATATATCATATATAACATATGTTATATATCATATAT AACATATGTTATATATCATATATATGTTATATATAATATATAACATATGC TATATATCATATATATCATATATAACATATGTTATATATGATATATATGA TATATAGCATATGTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ESR2_chr14_64223317_64299371	64224413	A A	ATGCATGA others(238): Show ATGCATGAAACACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0353 a0001c0001t0016g0353	1	368	0.0027	245	c.87 others(256): Show c.8723_*8724insCGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATG TGTTTCATGCA	ESR2	ENSG00000140009.19	transcript	ENST00000341099.6	protein_coding		3903		chr14	TogoVar
EVA1C_chr21_32407706_32520387	32477700	A A	ACCTCCCC others(238): Show ACCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCCTCC CCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCCTCCCCCGTACGCCC TCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCACCTC CCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCC TCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0164 a0001c0002t0001g0164	1	346	0.0029	245	c.634 others(262): Show c.634+9897_634+9898insCTCCCCCGTACGCCCTCACCTCCCCCGT ACGCCCTCCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCC TCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCCG TACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCC TCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCG TACGCCCTCCCCTCCCC	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVA1C_chr21_32407706_32520387	32477794	G G	GCCCTCAC others(238): Show GCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCA CCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTAC GCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCC CCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCC CGTACGCCCTCCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0217	1	346	0.0029	245	c.634 others(262): Show c.634+9951_634+9952insACCTCCCCCGTACGCCCTCCCCTCCCCT CCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCC CTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCT CCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCC CTCCCCTCCCCTCCCCCGTACGCCCTCCCCCTCCCCCGTACGCCCTCACC TCCCCCGTACGCCCCTC	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
FER1L5_chr2_96637764_96709883	96659350	C C	CTTTCTTT others(238): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0176 a0002c0001t0001g0176	1	226	0.0044	245	c.748 others(260): Show c.748-989_748-988insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FER1L5_chr2_96637764_96709883	96659355	T T	TCTTCTCT others(238): Show TCTTCTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCCTCTTTCTTTCTTTCTCTTTTCTTTCTTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTCTTCTTTCTTTCTTTCTTTTCCTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0170 a0001c0004t0001g0170	1	226	0.0044	245	c.748 others(260): Show c.748-986_748-985insCTTCTCTTTCTTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTCTTTCTTTCTTTCTCTTTT CTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTCTT TCTTTCTTTCTTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTC TTTCTTTCTTTCTTC	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52			chr2	TogoVar
FER1L5_chr2_96637764_96709883	96659509	C C	CTTTCTTT others(238): Show CTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTT CTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0059 a0002c0001t0001g0059	1	226	0.0044	245	c.748 others(260): Show c.748-832_748-831insTTTCTTTCTTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTCTTCTTTCTTTCTT TCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTCTTTCTTCTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52			chr2	TogoVar
FOXK2_chr17_82514732_82609602	82586353	C C	CAGTGGGG others(238): Show CAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGC CGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCC GGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGA GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0241 a0001c0001t0006g0241	1	308	0.0033	245	c.157 others(262): Show c.1576+153_1576+154insAGTGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTGAAAGGTGGGCG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
FOXP1_chr3_70949708_71588728	71327315	G G	GAAGCAGC others(238): Show GAAGCAGCCTTCTTGGCTGCAACAGAAACGTCACTTGCAAGAGAACTGCA TTGTGTATAAATATGTACCCACAAATTATGAAATCTGACCACCAATCAAT TTCTTAACTTTTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTTAGACAGTCTCCTTCCATTGTCCAGGCTGGAAT GCAGTGGCACGATCTCCACTCACTGCAACCTCCGCCTCCTGGGTTC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02109.hp2 HG02145.hp2 others(1): Show HG01516.hp1 HG02109.hp2 HG02145.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0023 a0001c0001t0080 others(1): Show a0001c0001t0008 a0001c0001t0023 a0001c0001t0080 a0001c0001t0081	a0001c0001t0008g0039 a0001c0001t0023g0045 a0001c0001t0080g0075 others(1): Show a0001c0001t0008g0039 a0001c0001t0023g0045 a0001c0001t0080g0075 a0001c0001t0081g0018	4	96	0.0417	245	c.-72 others(264): Show c.-72-27436_-72-27435insGAACCCAGGAGGCGGAGGTTGCAGTG AGTGGAGATCGTGCCACTGCATTCCAGCCTGGACAATGGAAGGAGACTGT CTAACACACACACACACACACACACACACACACACACACACACACACACA CACACCCCAAAAGTTAAGAAATTGATTGGTGGTCAGATTTCATAATTTGT GGGTACATATTTATACACAATGCAGTTCTCTTGCAAGTGACGTTTCTGTT GCAGCCAAGAAGGCTGCTT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	4/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71327315	G G	GAAGCAGC others(238): Show GAAGCAGCCTTCTTGGCTGCAACAGAAACGTCACTTGCAAGAGAACTGCA TTGTGTATAAATATGTACCCACAAATTATGAAATCTGACCACCAATCAAT TTCTTAACTTTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTTAGACAGTCTCCTTCCATTGTCCAGGCTGGAAT GCAGTGGCACGATCTCCACTCACTGCAACCTCCGCCTCCTGGGTTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02622.hp2 HG02647.hp2 others(1): Show HG02109.hp1 HG02622.hp2 HG02647.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0038 a0001c0001t0082 others(1): Show a0001c0001t0021 a0001c0001t0038 a0001c0001t0082 a0001c0001t0083	a0001c0001t0021g0042 a0001c0001t0038g0013 a0001c0001t0082g0007 others(1): Show a0001c0001t0021g0042 a0001c0001t0038g0013 a0001c0001t0082g0007 a0001c0001t0083g0020	4	96	0.0417	245	c.-72 others(264): Show c.-72-27436_-72-27435insGAACCCAGGAGGCGGAGGTTGCAGTG AGTGGAGATCGTGCCACTGCATTCCAGCCTGGACAATGGAAGGAGACTGT CTAACACACACACACACACACACACACACACACACACACACACACACACA CACACACCAAAAGTTAAGAAATTGATTGGTGGTCAGATTTCATAATTTGT GGGTACATATTTATACACAATGCAGTTCTCTTGCAAGTGACGTTTCTGTT GCAGCCAAGAAGGCTGCTT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	4/20			chr3	TogoVar
GPATCH2_chr1_217421992_217636090	217524869	G G	GGGAGAGG others(238): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0138 a0001c0001t0011g0138	1	188	0.0053	245	c.109 others(264): Show c.1099-9981_1099-9980insTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCC	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GPIHBP1_chr8_143208218_143222170	143211626	G G	GGCGGGGC others(238): Show GGCGGGGCGTGAGAGAGGCGGGGCAGTGGGGGAGGCGGGGCGTGGGGGAG GAGGGGTGAAGATGACGGGAGGCAGTGCACGGGGGAGGCGGGGCACAGGA GAGGCGGGTCAACAGGGAGGTGGGACGCTGGGGAGAAGGGGCGAATGGGG GCGGGGCGATGGGGAGGCGGGGCGACGGGAAGTAGGGGCAGTGGGGGAGG CGGGGCATGGGGTAGACAGGTGTGGGGGAGGCGGGGCACCAGGGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0009 a0001c0004t0003g0009	1	106	0.0094	245	c.-16 others(256): Show c.-1642_-1641insGCGGGGCGTGAGAGAGGCGGGGCAGTGGGGGAGG CGGGGCGTGGGGGAGGAGGGGTGAAGATGACGGGAGGCAGTGCACGGGGG AGGCGGGGCACAGGAGAGGCGGGTCAACAGGGAGGTGGGACGCTGGGGAG AAGGGGCGAATGGGGGCGGGGCGATGGGGAGGCGGGGCGACGGGAAGTAG GGGCAGTGGGGGAGGCGGGGCATGGGGTAGACAGGTGTGGGGGAGGCGGG GCACCAGGGTA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1591		chr8	TogoVar
GRAMD4_chr22_46615386_46684785	46631422	A A	AGCCTGTG others(238): Show AGCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACG GCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACAG CCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGGC CTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGGCC TGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0198 a0001c0001t0006g0198	1	328	0.0031	245	c.162 others(262): Show c.162+4558_162+4559insAGCCTGTGTCCTTTCGTCTCCTGGGGAC CGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCTGGGGACC GGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCTGGGGACCG GGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCTGGGGACCGG GGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCTGGGGACCGGG GATGGGTAGAACCTCAC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46631422	A A	AGCCTGTG others(238): Show AGCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACG GCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGG CCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGGC CTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGGCC TGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00438.hp2 others(62): Show HG00099.hp1 HG00323.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01109.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02698.hp2 HG03486.hp2 HG03540.hp1 HG03942.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18939.hp2 NA18946.hp2 NA18948.hp1 NA18959.hp2 NA18967.hp2 NA18970.hp1 NA18975.hp2 NA18982.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19005.hp1 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19064.hp2 NA19065.hp1 NA19074.hp2 NA19081.hp2 NA19085.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0001c0001t0026 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0043 a0001c0001t0044 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0006t0042	a0001c0001t0001g0115 a0001c0001t0001g0197 a0001c0001t0001g0255 others(61): Show a0001c0001t0001g0115 a0001c0001t0001g0197 a0001c0001t0001g0255 a0001c0001t0001g0261 a0001c0001t0001g0273 a0001c0001t0001g0308 a0001c0001t0002g0007 a0001c0001t0002g0081 a0001c0001t0002g0171 a0001c0001t0002g0203 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0285 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0307 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0317 a0001c0001t0002g0319 a0001c0001t0003g0283 a0001c0001t0004g0295 a0001c0001t0005g0041 a0001c0001t0006g0076 a0001c0001t0006g0102 a0001c0001t0006g0170 a0001c0001t0006g0174 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0001t0006g0194 a0001c0001t0006g0195 a0001c0001t0006g0199 a0001c0001t0006g0200 a0001c0001t0006g0202 a0001c0001t0006g0302 a0001c0001t0017g0045 a0001c0001t0026g0082 a0001c0001t0032g0046 a0001c0001t0034g0201 a0001c0001t0035g0263 a0001c0001t0036g0173 a0001c0001t0043g0311 a0001c0001t0044g0316 a0001c0001t0056g0313 a0001c0001t0058g0277 a0001c0001t0059g0284 a0001c0001t0060g0280 a0001c0006t0042g0318	65	328	0.1982	245	c.162 others(262): Show c.162+4797_162+5041dupACCTCACGGCCTGTGTCCTTTCGTCTCC TGGGGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCT GGGGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCTG GGGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCTGG GGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCTGGG GACCGGGGATGGGTAGA	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRIN2A_chr16_9748408_10187428	9848712	A A	ATATTTAA others(238): Show ATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAAT ACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTA AATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGT TTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATAT AAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0029 a0001c0001t0014g0029	1	168	0.0060	245	c.132 others(264): Show c.1328+1043_1328+1044insAAAACAGTGTATTTTATATATTTAAA TATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTT TATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAA AACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATAT TTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTG TATTTTATATATTTAAATA	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	5/12			chr16	TogoVar
GSE1_chr16_85608322_85681200	85653208	C C	CCTCCCCC others(238): Show CCTCCCCCCCTCCTCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCC CCTCCTCCCCCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCTCCTCCCCCCCTCCACCCTCCTCCCCCTCCTCCCCCCTCCTCC CCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCCCCTCCTCCTC CTCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	290	0.0035	245	c.427 others(262): Show c.427-1069_427-1068insTCCCCCCCTCCTCCCCCTCCTCCCCCCT CCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCTCCTCC TCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCACCCTCCTC CCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCT CCTCCCCCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCT CCCCCCTCCTCCTCCTC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCTC others(238): Show TCCTCCTCCCCCCTCCTCCTCCCCCCTCCCACTCCTCCCCCCTCCTCCCC CCCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCC CCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCCTCCTCC TCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0014 a0001c0056t0014	a0001c0056t0014g0189 a0001c0056t0014g0189	1	290	0.0035	245	c.427 others(262): Show c.427-1062_427-1061insTCCTCCCCCCTCCTCCTCCCCCCTCCCA CTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCC TCCTCCCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCC TCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCC CTCCTCCTCCTCCTCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(238): Show CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCC TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTC CTCCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0188 a0001c0001t0004g0188	1	290	0.0035	245	c.427 others(262): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTC CCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCC CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCC TCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCC TCCCCCCTCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GUCY1A2_chr11_106669019_107023476	106709951	C C	CATATAGT others(238): Show CATATAGTTATATATTATATACATGTATATAACATAGTTATATATTATAT ACATGTATATAACATATAGTTATATATTATATACATGTATATAACATATA GTTATATATTATATACATGTATATAACATATAGTTATATATTATATACAT GTATATAACATATAGTTATGTATATTATATACATGTATATAACATAGTTA TATACATATAACTATATGTATATAATATATAGTACATGTATATAAT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0068 a0001c0015t0068	a0001c0015t0068g0256 a0001c0015t0068g0256	1	256	0.0039	245	c.183 others(264): Show c.1837-1286_1837-1285insATTATATACATGTACTATATATTATA TACATATAGTTATATGTATATAACTATGTTATATACATGTATATAATATA CATAACTATATGTTATATACATGTATATAATATATAACTATATGTTATAT ACATGTATATAATATATAACTATATGTTATATACATGTATATAATATATA ACTATATGTTATATACATGTATATAATATATAACTATGTTATATACATGT ATATAATATATAACTATAT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106709951	C C	CATATAGT others(238): Show CATATAGTTATATATTATATACATGTATATAACATATAGTTATATATTAT ATACATGTATATAACATAGTTATATATTATATACATGTATATAACATATA GTTATATATTATATACATGTATATAACATATAGTTATATATTATATACAT GTATATAACATATAGTTATGTATATTATATACATGTATATAACATAGTTA TATACATATAACTATATGTATATAATATATAGTACATGTATATAAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0050 a0001c0003t0050	a0001c0003t0050g0250 a0001c0003t0050g0250	1	256	0.0039	245	c.183 others(264): Show c.1837-1286_1837-1285insATTATATACATGTACTATATATTATA TACATATAGTTATATGTATATAACTATGTTATATACATGTATATAATATA CATAACTATATGTTATATACATGTATATAATATATAACTATATGTTATAT ACATGTATATAATATATAACTATATGTTATATACATGTATATAATATATA ACTATGTTATATACATGTATATAATATATAACTATATGTTATATACATGT ATATAATATATAACTATAT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
GYPE_chr4_143865864_143910559	143883550	T T	TTATAATT others(238): Show TTATAATTAATAATAACATGTAATTAATTATAAATTAATTTATAATTAAT AATAACATGTAATTAATTATAAATTAATAATTAATAATAACATGTAATTA ATTATAAATTAATAATTAATAATAACATGTAATTAATTATAAATTAATAA TTAATAATAACATGTAATTAATTATAAATTAATAATTAATAATAACATGT AATTAATTATAAATTAATAATTAATAATAACATGTAATTAATTATA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	398	0.0025	245	c.38- others(260): Show c.38-3042_38-3041insTATAATTAATTACATGTTATTATTAATTAT TAATTTATAATTAATTACATGTTATTATTAATTATTAATTTATAATTAAT TACATGTTATTATTAATTATTAATTTATAATTAATTACATGTTATTATTA ATTATTAATTTATAATTAATTACATGTTATTATTAATTATTAATTTATAA TTAATTACATGTTATTATTAATTATAAATTAATTTATAATTAATTACATG TTATTATTAATTATA	GYPE	ENSG00000197465.14	transcript	ENST00000358615.9	protein_coding	1/3			chr4	TogoVar

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