Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

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)

Samplehapid

No_hapid

No_samplehapid

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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
FER1L5_chr2_96637764_96709883	96659509	C C	CTTTCTTT others(246): Show CTTTCTTTCTTTCTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTCTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTT TCTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0131 a0002c0001t0001g0131	1	226	0.0044	253	c.748 others(268): Show c.748-832_748-831insTTTCTTTCTTTCTTCTTTCTTTCTTTCTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCT TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTCTTTCTTTCTTTCTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52			chr2	TogoVar
FLT3_chr13_27998274_28105576	27998752	A A	ATATATAT others(246): Show ATATATATTTATATGTATATAAATATATATATTTATATGTATATAAATAT ATATATTTATATGTATATAAATATATATATTTATATGTATATAAATATAT ATATTTATATATAAATATATATATTTATATATAAATATATATATTTATAT ATAAATATATATATTTGTATATAAATATATATATTTATATATAAATATAT GTTATATATATTTATATATAAATATGTTATATATATTTATATATAAATAT ATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0022 a0022	a0022c0043 a0022c0043	a0022c0043t0004 a0022c0043t0004	a0022c0043t0004g0224 a0022c0043t0004g0224	1	292	0.0034	253	c.52 others(264): Show c.5299_*5300insACATATATTTATATATAAATATATATAACATATT TATATATAAATATATATAACATATATTTATATATAAATATATATATTTAT ATACAAATATATATATTTATATATAAATATATATATTTATATATAAATAT ATATATTTATATATAAATATATATATTTATATACATATAAATATATATAT TTATATACATATAAATATATATATTTATATACATATAAATATATATATTT ATATACATATAAATATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4521		chr13	TogoVar
FLT3_chr13_27998274_28105576	27998752	A A	ATATATAT others(246): Show ATATATATTTATATGTATATAAATATATATATTTATATGTATATAAATAT ATATATTTATATGTATATAAATATATATATTTATATGTATATAAATATAT ATATTTATATATAAATATATATATTTGTATATAAATATATATATTTATAT ATAAATATATATATTTGTATATAAATATATATATTTATATATAAATATAT GTTATATATATTTATATATAAATATGTTATATATATTTATATATAAATAT ATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0013 a0013	a0013c0031 a0013c0031	a0013c0031t0004 a0013c0031t0004	a0013c0031t0004g0153 a0013c0031t0004g0153	1	292	0.0034	253	c.52 others(264): Show c.5299_*5300insACATATATTTATATATAAATATATATAACATATT TATATATAAATATATATAACATATATTTATATATAAATATATATATTTAT ATACAAATATATATATTTATATATAAATATATATATTTATATACAAATAT ATATATTTATATATAAATATATATATTTATATACATATAAATATATATAT TTATATACATATAAATATATATATTTATATACATATAAATATATATATTT ATATACATATAAATATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4521		chr13	TogoVar
FOXP1_chr3_70949708_71588728	71327315	G G	GAAGCAGC others(246): Show GAAGCAGCCTTCTTGGCTGCAACAGAAACGTCACTTGCAAGAGAACTGCA TTGTGTATAAATATGTACCCACAAATTATGAAATCTGACCACCAATCAAT TTCTTAACTTTTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTTAGACAGTCTCCTTCCATTGTCCAG GCTGGAATGCAGTGGCACGATCTCCACTCACTGCAACCTCCGCCTCCTGG GTTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0033 a0001c0001t0040g0033	1	96	0.0104	253	c.-72 others(272): Show c.-72-27436_-72-27435insGAACCCAGGAGGCGGAGGTTGCAGTG AGTGGAGATCGTGCCACTGCATTCCAGCCTGGACAATGGAAGGAGACTGT CTAACACACACACACACACACACACACACACACACACACACACACACACA CACACACACACACCCCAAAAGTTAAGAAATTGATTGGTGGTCAGATTTCA TAATTTGTGGGTACATATTTATACACAATGCAGTTCTCTTGCAAGTGACG TTTCTGTTGCAGCCAAGAAGGCTGCTT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	4/20			chr3	TogoVar
GABRA2_chr4_46238548_46395128	46378045	C C	CCCCCCAC others(246): Show CCCCCCACCCGGCCAGCCGCCCCATCAGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCTGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCTAGCCGCCCC GTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCGCCATCCAGGAGGGAGGTGGGGGGG TCAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0091 a0001c0001t0099g0091	1	258	0.0039	253	c.187 others(270): Show c.187+8028_187+8029insCTGACCCCCCCACCTCCCTCCTGGATGG CGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTAGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCT GATGGGGCGGCTGGCCGGGTGGGGG	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9			chr4	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(246): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG GAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGA GGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGCGGGGAGGGGATGGGGG GCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGGGGGCGGGGGGGAG GGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	364	0.0028	253	c.-20 others(262): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGA GGGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGCGGG GAGGGGATGGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGG GGGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(246): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGG GAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGA GGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGCGGGGAGGGGATGGGGG CGGGGGGGAGGGGGATGGGCGGGGGGGAGGGGGAGGGGGGCGGGGGGGAG GGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	364	0.0028	253	c.-20 others(262): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCG CGGGGTGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGA GGGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGCGGG GAGGGGATGGGGGCGGGGGGGAGGGGGATGGGCGGGGGGGAGGGGGAGGG GGGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGG others(246): Show CGGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGG TGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGG GGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGG AGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGG GCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGGAGGGGGGCGGGGGGGAG GGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0098 a0001c0003t0001g0098	1	364	0.0028	253	c.-20 others(262): Show c.-204_-203insGGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGG GGACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCG CGGGGTGGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGG AGGGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGG GGAGGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGGAGGG GGGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019227	C C	CGGGGGGA others(246): Show CGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGTGGGGGGG GAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGGAGGGGGA GGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGAGGGGATGG GGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGGGCGGGGGGG GAGGGGATGGGCGGGGGGGAGGGGAGGGGGGGCGGGGGGGAGGGGAGGGG GGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	1	364	0.0028	253	c.-19 others(262): Show c.-197_-196insGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGG TAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGG GGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGG GGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGAT GGGGGCGGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGGGGGCGGGG GGGAGGGGAGGGGGGCG	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		117		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019227	C C	CGGGGGGA others(246): Show CGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGTGGGGGGG GAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGGAGGGGGA GGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGAGGGGATGG GGGCGGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGGGCGGGGGG GGAGGGGATGGGCGGGGGGGAGGGGAGGGGGGCGGGGGGGAGGGGAGGGG GGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	1	364	0.0028	253	c.-19 others(262): Show c.-197_-196insGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGG TAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGG GGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGG GGGGAGGGGATGGGGGCGGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGA TGGGGGCGGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGGGGCGGGG GGGAGGGGAGGGGGGCG	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		117		chr1	TogoVar
GALNS_chr16_88808734_88861947	88831499	G G	GAGCGGTG others(246): Show GAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGGAGGAGAGCGGTGAGGCC GAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCG TGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGACAGCG GTGAGGCGGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCGGAGCAC GGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGA GGAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	404	0.0025	253	c.100 others(270): Show c.1002+498_1002+499insGTCCTCCCCACGCACCCCGTGCTCGGCC TCACCGCTCTCCTCCCCACGCACCCCGTGCTCCGCCTCACCGCTCTCCTC CCCACGCACCCCGTGCTCCGCCTCACCGCTGTCCTCCCCACGCACCCCGT GCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCG CTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCCAC GCACCCCGTGCTCGGCCTCACCGCT	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GTPBP4_chr10_983434_1024932	1010845	A A	ACTGGTGG others(246): Show ACTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCTGA CTCTGCCCCCTACACCACCTTCCCCACCCTGAGACTCTGGTGGAGATACT GGCCCTGGCTGGGCTCTGCTATGCTGGCCTGCCCCCTTCCCGCCGCCTCC CCCCACCCACCCCGGACACTCTGGTGGAGATGCTGGGCCCCTTCGTTATC CTGCACCCCTCCATCCTGACTCTGCCTCCTGCACCTCTTCCCTGTCCCGA CACT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0057 a0001c0002t0002g0057	1	370	0.0027	253	c.134 others(270): Show c.1344+403_1344+404insTGAGACTCTGGTGGAGATACTGGCCCTG GCTGGGCTCTGCTATGCTGGCCTGCCCCCTTCCCGCCGCCTCCCCCCACC CACCCCGGACACTCTGGTGGAGATGCTGGGCCCCTTCGTTATCCTGCACC CCTCCATCCTGACTCTGCCTCCTGCACCTCTTCCCTGTCCCGACACTCTG GTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCTGACTCT GCCCCCTACACCACCTTCCCCACCC	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GUCY1A2_chr11_106669019_107023476	106709627	A A	AATATATA others(246): Show AATATATAGTTATATATTATATACGTGTATATATTATATACACGTATAGA ATATATAGTTATATACACGTATAGAATATATAGTTATATATTATATACAC GTATAGAATATATAGTTATATACACGTATAGAATATATAGTTATATACAC GTATAGAATATATAGTTATATATTATATACACGTATAGAATATATAGTTA TATATTATATACACGTATAGAATATATAGTTATATACACGTATAGAATAT ATAG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0177 a0001c0002t0012g0177	1	256	0.0039	253	c.183 others(270): Show c.1837-962_1837-961insCTATATATTCTATACGTGTATATAACTA TATATTCTATACGTGTATATAATATATAACTATATATTCTATACGTGTAT ATAATATATAACTATATATTCTATACGTGTATATAACTATATATTCTATA CGTGTATATAACTATATATTCTATACGTGTATATAATATATAACTATATA TTCTATACGTGTATATAACTATATATTCTATACGTGTATATAATATATAC ACGTATATAATATATAACTATATAT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HIP1R_chr12_122830457_122867961	122850568	T T	TGGGGGGG others(246): Show TGGGGGGGGGCCCTGGTTCGGTGGCCGCTGGGTGGGGGGGGCCCTGGTTC GGTGGCCGCTGGGTGGGGGGGGCCCTGGTTCGGTGGCCGCTGGGTGGGGG GGGGCCCTGGTTCGGTGGCCGCTGGGTGGGGGGGGGCCCTGGTTCGGTGG CCGCTGGGTGGGGGGGGCCCTGGTTCGGTGGCCGCTGGGTGGGGGGGGCC CTGGTTCGGTGGCCGCTGGGTGGGGGGGGGCCCTGGTTCGGTGGCCGCTG GGTG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0072	1	348	0.0029	253	c.439 others(268): Show c.439-260_439-259insGGCCCTGGTTCGGTGGCCGCTGGGTGGGGG GGGCCCTGGTTCGGTGGCCGCTGGGTGGGGGGGGCCCTGGTTCGGTGGCC GCTGGGTGGGGGGGGGCCCTGGTTCGGTGGCCGCTGGGTGGGGGGGGGCC CTGGTTCGGTGGCCGCTGGGTGGGGGGGGCCCTGGTTCGGTGGCCGCTGG GTGGGGGGGGCCCTGGTTCGGTGGCCGCTGGGTGGGGGGGGGCCCTGGTT CGGTGGCCGCTGGGTGGGGGGGG	HIP1R	ENSG00000130787.14	transcript	ENST00000253083.9	protein_coding	5/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
IFNAR1_chr21_33319970_33364864	33323313	A A	ATATGGAA others(246): Show ATATGGAATATATATATATGGAATATATATATATGGAATGTATATATGGA ATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTA TATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATAT GTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGA ATGTATATATGTGGAATGTATATATGGAATGTATATATGTGGAATATATA TATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0104 a0001c0001t0010g0104	1	323	0.0031	253	c.-17 others(264): Show c.-1743_-1742insTATGGAATATATATATATGGAATATATATATATG GAATGTATATATGGAATGTATATATGTGGAATGTATATATGTGGAATGTA TATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATAT GTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGA ATGTATATATGTGGAATGTATATATGTGGAATGTATATATGGAATGTATA TATGTGGAATATATATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1656		chr21	TogoVar
IL18R1_chr2_102350796_102403776	102352893	A A	AATATTAT others(246): Show AATATTATATATAATATTATATATTTTATATATAATATTATATATAATAT TATATATTTTATATATAATATTATATATAATATTATATATTTTATATATA ATATTATATATAATATTATATATTTTATATATAATATTATATATAATATT ATATATTTTATATATAATATATATTATATAATATTATATATAATATTATA TATTTTATATATAATATATATTATATAATATTATATATATTATACATTAC ATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG02886.hp2 HG01261.hp1 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0089 a0001c0002t0012g0090 a0001c0002t0012g0089 a0001c0002t0012g0090	2	366	0.0055	253	c.-35 others(264): Show c.-3536_-3535insATATTATATATAATATTATATATTTTATATATAA TATTATATATAATATTATATATTTTATATATAATATTATATATAATATTA TATATTTTATATATAATATTATATATAATATTATATATTTTATATATAAT ATTATATATAATATTATATATTTTATATATAATATATATTATATAATATT ATATATAATATTATATATTTTATATATAATATATATTATATAATATTATA TATATTATACATTACATAT	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		2902		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352893	A A	AATATTAT others(246): Show AATATTATATATAATATTATATATTTTATATATAATATTATATATAATAT TATATATTTTATATATAATATTATATATAATATTATATATTTTATATATA ATATTATATATAATATTATATATTTTATATATAATATTATATATAATATT ATATATTTTATATATAATATATATTATATAATATTATATATAATATTATA TATTTTATATATAATATATATTATATAATATTATATATATTATACATTAC ATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG02886.hp2 HG01261.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0126 a0001c0001t0001g0127	2	348	0.0058	253	c.97 others(262): Show c.972_*973insATATTATATATAATATTATATATTTTATATATAATA TTATATATAATATTATATATTTTATATATAATATTATATATAATATTATA TATTTTATATATAATATTATATATAATATTATATATTTTATATATAATAT TATATATAATATTATATATTTTATATATAATATATATTATATAATATTAT ATATAATATTATATATTTTATATATAATATATATTATATAATATTATATA TATTATACATTACATAT	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		857		chr2	TogoVar
INPP5A_chr10_132532787_132788480	132775115	G G	GGGCAGGG others(246): Show GGGCAGGGAGGAGAGATGGGCAGAGAGGAGGGGCAGGGAGAGAGGGGCAG GGAGGAGAGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGGGGGGGCAGGGA GGAGGGACAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGG CAGGGGGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA GACA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	204	0.0049	253	c.978 others(270): Show c.978-2544_978-2543insAGATGGGCAGAGAGGAGGGGCAGGGAGA GAGGGGCAGGGAGGAGAGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGGGG GGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGG GAGGAGAGAGGGGCAGGGAGGAGGGGGGGCAGGGAGGAGGGACAGGGAGG AGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCA GGGAGGAGAGACAGGCAGGGAGGAG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IQSEC1_chr3_12892043_13078429	12892986	C C	CCACAACC others(246): Show CCACAACCTCCACAGAGACTCTCCACCCTCTCCCACTGTGCACCCCCCCA ACCCCTGCACCCCACGCACAACCTCCACAGGGACCCCCACCCTCTCCCAC TGTGTACCCCCCTGTACCCCACCCACAACCTCCACAGAGACTCTCCACCC TCTCCCACTGTGCACCCCCCCCAACCCCTGCACCCCACGCACAACCTCCA CAGGGACTCCCCACCCTCTCCCACTGTGCACCCCCCCAACCCCTGCACCC CACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG03041.hp1 HG03540.hp2 others(2): Show HG02970.hp1 HG03041.hp1 HG03540.hp2 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 others(1): Show a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0072	a0001c0001t0019g0178 a0001c0001t0022g0060 a0001c0001t0022g0126 others(2): Show a0001c0001t0019g0178 a0001c0001t0022g0060 a0001c0001t0022g0126 a0001c0001t0023g0122 a0001c0001t0072g0248	5	250	0.0200	253	c.79 others(264): Show c.7996_*7997insCGTGGGGTGCAGGGGTTGGGGGGGTGCACAGTGG GAGAGGGTGGGGAGTCCCTGTGGAGGTTGTGCGTGGGGTGCAGGGGTTGG GGGGGGTGCACAGTGGGAGAGGGTGGAGAGTCTCTGTGGAGGTTGTGGGT GGGGTACAGGGGGGTACACAGTGGGAGAGGGTGGGGGTCCCTGTGGAGGT TGTGCGTGGGGTGCAGGGGTTGGGGGGGTGCACAGTGGGAGAGGGTGGAG AGTCTCTGTGGAGGTTGTG	IQSEC1	ENSG00000144711.17	transcript	ENST00000613206.2	protein_coding		4056		chr3	TogoVar
JAG2_chr14_105135995_105173776	105150012	T T	TGAGGTGG others(246): Show TGAGGTGGGTGGGGGGAGGCAGGGTTGGGGGAGGTGGGGAAGGGGGAGGT GGGGAAGGGGGTGGTAGGGGTGGTGGGGAAGGGGGAAGGCAGGTTACTTT GGAGGCAGGGGGGAAGGGGAGGTTGGGGGAGGTGGGGAAGGGGGTGGTAG GGAGGTGGGTGGGGGGAGGCAGGGTTGGGGGAGGTGGGGAAGGGGGTGGT AGGGAGGTGGGTGGGGGGAGGCAGGGTTGGGGGAGGTAGGGGAGGGGTGA TAGG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0087 a0002c0002t0002g0087	1	364	0.0028	253	c.160 others(270): Show c.1602+591_1602+592insCCTATCACCCCTCCCCTACCTCCCCCAA CCCTGCCTCCCCCCACCCACCTCCCTACCACCCCCTTCCCCACCTCCCCC AACCCTGCCTCCCCCCACCCACCTCCCTACCACCCCCTTCCCCACCTCCC CCAACCTCCCCTTCCCCCCTGCCTCCAAAGTAACCTGCCTTCCCCCTTCC CCACCACCCCTACCACCCCCTTCCCCACCTCCCCCTTCCCCACCTCCCCC AACCCTGCCTCCCCCCACCCACCTC	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	12/25			chr14	TogoVar
JAKMIP3_chr10_132060946_132189858	132159923	G G	GGGGGTCT others(246): Show GGGGGTCTCCCTGTGTGATGCTGGGGGCGTGTCTTCCTGTGTGATGCTGG GGGGCCTCTCGCTGTGTGATGCTGGGGGCGTGTCTTCCTGTGTGACGCTG GGGGCGTGTCTTCCTGTGTGATGCTGGGGGGGCCTCTTCCTGTGTGATGC TGGGGAGGGTCTATTCCTGTGTCTTATTGAGGGGGCCTCTCCCTGTGTGA TGCTGGGGAGCCTCTTCCTGTGTGATGCTGGGGGGCCTCTCGCTGTGTGA TGCT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0024 a0001c0013t0024	a0001c0013t0024g0078 a0001c0013t0024g0078	1	158	0.0063	253	c.222 others(272): Show c.2221-3282_2221-3281insTCTCCCTGTGTGATGCTGGGGGCGTG TCTTCCTGTGTGATGCTGGGGGGCCTCTCGCTGTGTGATGCTGGGGGCGT GTCTTCCTGTGTGACGCTGGGGGCGTGTCTTCCTGTGTGATGCTGGGGGG GCCTCTTCCTGTGTGATGCTGGGGAGGGTCTATTCCTGTGTCTTATTGAG GGGGCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCTGTGTGATGCTGG GGGGCCTCTCGCTGTGTGATGCTGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNK2_chr1_215077737_215242090	215209560	A A	ATATATAT others(246): Show ATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATAT AAAATATATAAAATAGATATTATATATAAAATATATATAATATATATATA AAATAGATATTATATATAAAATATATATTATATATTATATAAAATATATA TTATATATTATATAATATATAATATATATTATATATAATATATTATATAA TATATATTATATATATATAATATATATTAAATATATATTATATAAAATAT ATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	260	0.0039	253	c.963 others(272): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT AATATATTATATAATATATATTATATATATATAATATATATTAAATATAT ATTATATAAAATATATATTATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNMB2_chr3_178531436_178849429	178758772	T T	TATATATA others(246): Show TATATATATATATCTCCTCTAGGAGAGAGATATATATATATATATATATC TCCAAGAGGAGATATATATATATATATATATATCTCCTCTAGGAGATATA TATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATA TATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGA TATATATATATATCTCCAAGAGGAGATATATATATATATATATCTCCAAG AGGG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0157 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0157	3	232	0.0129	253	c.-67 others(272): Show c.-67-48559_-67-48558insCTCCTCTAGGAGAGAGATATATATAT ATATATATATCTCCAAGAGGAGATATATATATATATATATATATCTCCTC TAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCTCC AAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCT CCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATAT ATATCTCCAAGAGGGATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIF17_chr1_20659014_20723007	20712845	T T	TTATCTAT others(246): Show TTATCTATATTATAGATATAGATATTATCTATATCTATATTATAGATAAT ATCTATAATATAGATATTATCTATATTATAGATAATATCTATAATATAGA TATTATCTATATTATAGATAATATCTATAATATAGATATAGATATTATCT ATATCTATAATATAGATAATATTATCTATATTATAGATATAGATAATATT ATCTATATTATATATAGATAATATTATCTATATTATAGATATTATCTATA TATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0007 a0008c0012t0007	a0008c0012t0007g0363 a0008c0012t0007g0363	1	414	0.0024	253	c.480 others(268): Show c.480+608_480+609insTATATATAGATAATATCTATAATATAGATA ATATTATCTATATATAATATAGATAATATTATCTATATCTATAATATAGA TAATATTATCTATATTATAGATATAGATAATATCTATATCTATATTATAG ATATTATCTATAATATAGATAATATCTATATTATAGATATTATCTATAAT ATAGATAATATCTATATTATAGATATTATCTATAATATAGATATAGATAA TATCTATATCTATAATATAGATA	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF25_chr6_167992671_168050091	168035438	C C	CGGGGGGG others(246): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCG GGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCT GCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCT GCGG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0124 a0002c0002t0011g0124	1	375	0.0027	253	c.317 others(270): Show c.317+1409_317+1410insGGGGGGCGGGAACGGCGCTGCGGGGGGG GGGCGGGAACGGCGCTGCGGGGGGGGGGGGGCGGGAACGGCGCTGCGGGG GGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGG GCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGGCGGGAACGGCGCTGCGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035438	C C	CGGGGGGG others(246): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGGCGGGAACGGCGCTGC GGGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGC TGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGG GGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCT GCGG	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0352 a0002c0002t0005g0352	1	375	0.0027	253	c.317 others(270): Show c.317+1409_317+1410insGGGGGGCGGGAACGGCGCTGCGGGGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGGGGGCGGGAACGGCGCTGCGGG GGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGG GGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGG GGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCG GGGGGGCGGGAACGGCGCTGCGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035438	C C	CGGGGGGG others(246): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGGCGGGAACGGCGCTGC GGGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGC TGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCG GGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGC TGCG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0237 a0002c0002t0013g0237	1	375	0.0027	253	c.317 others(270): Show c.317+1409_317+1410insGGGGGGCGGGAACGGCGCTGCGGGGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGGGGGCGGGAACGGCGCTGCGGG GGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGG GGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGG GGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGC GGGGGGGCGGGAACGGCGCTGCGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035438	C C	CGGGGGGG others(246): Show CGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGGCGGGAACGGCGCTG CGGGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGC TGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCT GCGG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0097 a0002c0002t0003g0097	1	375	0.0027	253	c.317 others(270): Show c.317+1409_317+1410insGGGGGGGCGGGAACGGCGCTGCGGGGGG GGGGGCGGGAACGGCGCTGCGGGGGGGGGGGGGCGGGAACGGCGCTGCGG GGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGG GGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGCG GGGGGGCGGGAACGGCGCTGCGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035438	C C	CGGGGGGG others(246): Show CGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGGCGGGAACGGCGCTG CGGGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGC TGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCG GGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGC TGCG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0327 a0002c0002t0003g0327	1	375	0.0027	253	c.317 others(270): Show c.317+1409_317+1410insGGGGGGGCGGGAACGGCGCTGCGGGGGG GGGGGCGGGAACGGCGCTGCGGGGGGGGGGGGGCGGGAACGGCGCTGCGG GGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGG GGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGG GGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGC GGGGGGGCGGGAACGGCGCTGCGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KREMEN1_chr22_29068035_29151820	29120167	T T	TGGAGGAG others(246): Show TGGAGGAGGGAGAGGTGATGATGGAAACGGAGGAGGGAGAGGTGATGATG GAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTG ATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGA GAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAG GAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAA ACAG	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	368	0.0027	253	c.353 others(270): Show c.353-1170_353-1169insTGGAAACGGAGGAGGGAGAGGTGATGAT GGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGT GATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGG AGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGA GGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGA AACAGGGAGGAGGGAGAGGTGATGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
KREMEN1_chr22_29068035_29151820	29120414	A A	AGGAAACA others(246): Show AGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGG TGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGG GAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGG AGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGG AAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGA TGAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02818.hp2 HG02970.hp1 others(2): Show HG00735.hp2 HG02818.hp2 HG02970.hp1 HG03453.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0011 a0001c0001t0008g0199 a0001c0001t0008g0201 others(1): Show a0001c0001t0008g0011 a0001c0001t0008g0199 a0001c0001t0008g0201 a0001c0001t0008g0331	5	368	0.0136	253	c.353 others(268): Show c.353-915_353-914insAGGAAATGGAGGAGGGAGAGGTGATGATGG AAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGA TGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAG AGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGG AGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAA CAGGGAGGAGGGAGAGGTGATGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LAMA5_chr20_62304065_62372312	62349742	G G	GGTGGGGG others(246): Show GGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATGG TGGGGGTGATGACGGTGGGGCTGGGGGGTGATGACGGTGATGATGGGGGT GGGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGCTGGGGGT GATGACGGTGATGATGGGGGTGGGGGGGGTGATGACGGTGATGTGGGGGT GATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGACGG TGGG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0094 a0094	a0094c0025 a0094c0025	a0094c0025t0001 a0094c0025t0001	a0094c0025t0001g0008 a0094c0025t0001g0008	1	186	0.0054	253	c.956 others(270): Show c.956+1961_956+1962insCCCACCGTCATCACCCCCACCATCACCG TCATCACCCCCACCCCCACCGTCATCACCCCCACATCACCGTCATCACCC CCCCCACCCCCATCATCACCGTCATCACCCCCAGCCCCACCGTCATCACC CCCACCCCCACCGTCATCACCCCCCCACCCCCATCATCACCGTCATCACC CCCCAGCCCCACCGTCATCACCCCCACCATCACCATCATCACCCCCACCC CCACCATCACCACCCCCACCCCCAC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LDLRAD4_chr18_13213760_13657751	13494662	A A	AGTGAGAC others(246): Show AGTGAGACTCCATCTCCACTAATATATATATATATATAAAATATTATATT TATATATTATATATATAATATTATATATAATATATATATATATTATATAT ATAATATATATATAATATTATATATATATATTATATATATAATATATTTA TATATATAATATAATAATATAATATTATATATATTATATATATAAAATTA TATTTATATATATAATATAATAATATAATATTATATATATTATATATATA AAAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp1 HG02258.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0101 a0001c0001t0019g0048 a0001c0001t0002g0101 a0001c0001t0019g0048	2	178	0.0112	253	c.181 others(272): Show c.181+56278_181+56279insGTGAGACTCCATCTCCACTAATATAT ATATATATATAAAATATTATATTTATATATTATATATATAATATTATATA TAATATATATATATATTATATATATAATATATATATAATATTATATATAT ATATTATATATATAATATATTTATATATATAATATAATAATATAATATTA TATATATTATATATATAAAATTATATTTATATATATAATATAATAATATA ATATTATATATATTATATATATAAAAT	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6			chr18	TogoVar
LKAAEAR1_chr20_64078376_64089398	64088932	G G	GGAGGCCA others(246): Show GGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAAGGAGGCTGCA GGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAG GATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCA GAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAG GATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGGTCTGTGCA GAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	102	0.0098	253	c.-47 others(264): Show c.-4714_-4713insACTCTGCACAGACCCTGGCCTCCCTGCACAGATC CTGGCCACTCTGCACAGATCCTGGCCTCCCTGCACAGATCCTGGCCACTC TGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCTCCCTGCACAGATC CTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGATCCTGCCCTCCCTGCAGCCTCCTTGCACAGATCCTGGCCACT CTGCACAGATCCTGGCCTC	LKAAEAR1	ENSG00000171695.11	transcript	ENST00000302096.5	protein_coding		4535		chr20	TogoVar
LMF1_chr16_848634_975984	859576	G G	GAGTGGTG others(246): Show GAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGCGAG TGGTGTCTTGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGT GTCACGGGACGGGTGCGAGTGGTGTCACGGGAGGGGTGCGAGTGGTGTCT CGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGG ACGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGG GTGT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0276 a0001c0010t0001g0276	1	294	0.0034	253	c.153 others(272): Show c.1530-4871_1530-4870insACACCCGTCCCGAGACACCACTCGCA CCCGTCCCGTGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCG TCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCCTCCC GTGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCCCGAGA CACCACTCGCACCCGTCCCAAGACACCACTCGCACCCGTCCCGTGACACC ACTGCACACCCGTCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRRC23_chr12_6899822_6919229	6909267	A A	ATATAATA others(246): Show ATATAATATATATATTATTATATATATAATAATATATATATAATATATAA TTATACATAATATATAATATATATTATAATATATAATATATATTATATAT TAATATATAATATATAAATAATAATATATAATATATAATTATATATTATA TAATAATATATAATTATATATAATATATAATTATATATTATATAATAACA TAATTATATATAATATATAAAAATATATAATATATAAATATATAATATAT AAAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0048 a0002c0002t0002g0048	1	316	0.0032	253	c.622 others(268): Show c.622-623_622-622insTATAATATATATATTATTATATATATAATA ATATATATATAATATATAATTATACATAATATATAATATATATTATAATA TATAATATATATTATATATTAATATATAATATATAAATAATAATATATAA TATATAATTATATATTATATAATAATATATAATTATATATAATATATAAT TATATATTATATAATAACATAATTATATATAATATATAAAAATATATAAT ATATAAATATATAATATATAAAT	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LUC7L_chr16_183990_234449	186833	G G	GGGAACAG others(246): Show GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACA CGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	350	0.0029	253	c.23 others(264): Show c.2364_*2365insTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTT CCCCCCGTGTCGCTGTTCCCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCG CTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTG TCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGT GTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCC TCCCCCGTGTCGCTGTTCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2156		chr16	TogoVar
MAEA_chr4_1284891_1345137	1317118	T T	TCCCACAC others(246): Show TCCCACACTCCAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCAC ACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCC CACCCGGTCCCACACTCCAGACTCACCCCCAGGCCCACCCCGGCCCCCAC ACTCCACACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCC GCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCC AGCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03471.hp1 NA18906.hp1 HG02818.hp2 HG03471.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295	3	388	0.0077	253	c.456 others(270): Show c.456+1538_456+1539insCCAGGCCCACCCCGGCCCCCACACTCCA CACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGC CCACCCGGTCCCACACTCCAGACTCACCCCCAGGCCCACCCCGGCCCCCA CACTCCACACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACC CGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCC CAGCCCCCACACTCCAGACTCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1317175	T T	TGCAGGCC others(246): Show TGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCA GCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCC AGACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCAGTCCC ACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTC ACCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03453.hp2 HG02970.hp1 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0274 a0001c0003t0001g0292 a0001c0003t0001g0274 a0001c0003t0001g0292	2	388	0.0052	253	c.456 others(270): Show c.456+1587_456+1588insGGTCCCACACTCCAGACTCACCCGCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCC CCACACTCCAGACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTC ACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCA CCCAGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACAC TCCAGACTCACCCGCAGGCCCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MLPH_chr2_237482251_237560322	237544562	G G	GGACAGTG others(246): Show GGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGG GGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTG GGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGA GTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTG AGTGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGGGCGACAGTGGT GAGT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0045 a0002c0045	a0002c0045t0001 a0002c0045t0001	a0002c0045t0001g0028 a0002c0045t0001g0028	1	286	0.0035	253	c.153 others(272): Show c.1539+1904_1539+1905insACAGTGGTGAGTGGGCACGGTAGTGA GTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGG TGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGT GGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAG TGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGG TGGTGAGTGGGGCGACAGTGGTGAGTG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH4_chr1_75791882_75918242	75885846	A A	ACCTTATA others(246): Show ACCTTATATATTATATATATAATACCTTATAAGGTATTATATATAATATT ATATATTATATATAATATATATATTATATATAATATATAAATGTATATAT TATATATTATACATATATATTATATACATATATTATATATAATATATATT TTATATATTATATATGTATATATGTAATATATATAACCTTCACATTTATT TCAGTTATATAATGTGAAGGTAATATATATATGTTATTTTGTGTATATAT AAAG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	332	0.0030	253	c.210 others(272): Show c.2107+2025_2107+2026insCCTTATATATTATATATATAATACCT TATAAGGTATTATATATAATATTATATATTATATATAATATATATATTAT ATATAATATATAAATGTATATATTATATATTATACATATATATTATATAC ATATATTATATATAATATATATTTTATATATTATATATGTATATATGTAA TATATATAACCTTCACATTTATTTCAGTTATATAATGTGAAGGTAATATA TATATGTTATTTTGTGTATATATAAAG	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19			chr1	TogoVar
MSLN_chr16_755734_773862	767988	G G	GAGGGGCG others(246): Show GAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTG GAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGG CGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGG AGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGG AGGGGGGCGCGTGGGGGGGTGCATGGGGGGGCGTGGAGGGGGGTGCGTGG AGGA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0022 a0005c0005t0001g0022	1	388	0.0026	253	c.159 others(270): Show c.1597-391_1597-390insAGGGGCGCGTGGAGGAGGGGCGCGTGGA GGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGT GGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGG GCGCATGGGGGGGTGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGG GCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGCATGGGGG GGCGTGGAGGGGGGTGCGTGGAGGA	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17			chr16	TogoVar
MTNR1A_chr4_186528655_186560567	186547151	C C	CACACCAC others(246): Show CACACCACACCCTGTTCCTGGGACACACCGTCCACACCACACCCTGTTCC TGGGACACACCGTCCACACCACACCCTGTTCGTGGGACACACCGTCCACA CCACACCCTGTTCGTGGGACACACCGTCCACACCACACCCTGTTCGTGGG ACACACCGTCCACACCACACCCTGTTCGTGGGACACACCGTCCACACCAC ACCCTGTTCGTGGGACACACCGTCCACACCACACCCTGTTCCTGGGACAC ACCG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0194 a0005c0006t0001g0194	1	396	0.0025	253	c.184 others(270): Show c.184+8030_184+8031insCGGTGTGTCCCAGGAACAGGGTGTGGTG TGGACGGTGTGTCCCACGAACAGGGTGTGGTGTGGACGGTGTGTCCCACG AACAGGGTGTGGTGTGGACGGTGTGTCCCACGAACAGGGTGTGGTGTGGA CGGTGTGTCCCACGAACAGGGTGTGGTGTGGACGGTGTGTCCCACGAACA GGGTGTGGTGTGGACGGTGTGTCCCAGGAACAGGGTGTGGTGTGGACGGT GTGTCCCAGGAACAGGGTGTGGTGT	MTNR1A	ENSG00000168412.7	transcript	ENST00000307161.5	protein_coding	1/1			chr4	TogoVar
MXRA5_chrX_3303565_3351652	3326168	T T	TTTATAAT others(246): Show TTTATAATATATAATTTATAATTATAAATTATAAATTATAATATATAATT TATATATTATAAATTTATAATATATAATTTATATATTATAATTTATAATA TATAATTTATAATTATAAGTTATATATTATAATTTTTAATTATAAGTTAT AATATATAACTTATAATTATAAGTTATAATATATAACTTATAATTATAAG TTATAATATATAACTTATAATTATAAGTTATAATATATAACTTATAATTA TAAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA19074.hp2 NA19091.hp1 HG00597.hp2 NA19074.hp2 NA19091.hp1	a0003 a0003	a0003c0003 a0003c0014 a0003c0003 a0003c0014	a0003c0003t0001 a0003c0014t0001 a0003c0003t0001 a0003c0014t0001	a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0014t0001g0211 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0014t0001g0211	3	284	0.0106	253	c.710 others(270): Show c.710-1194_710-1193insCTTATAATTATAAGTTATATATTATAAC TTATAATTATAAGTTATATATTATAACTTATAATTATAAGTTATATATTA TAACTTATAATTATAAGTTATATATTATAACTTATAATTAAAAATTATAA TATATAACTTATAATTATAAATTATATATTATAAATTATAATATATAAAT TATATATTATAAATTTATAATATATAAATTATATATTATAATTTATAATT TATAATTATAAATTATATATTATAA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
MYL2_chr12_110905845_110925579	110905991	T T	TATATAAT others(246): Show TATATAATATATATTATATAAAATATATATTATATTATATATAATATATA TTATATAAAATATATATTATATTATATATAATATATATTATATAAAATAT ATATTATATTATATAATATATATTATATAAAATATATATTATATTATATA TAATATATATTATATAAAATATATATTATATTATATAATATATATTATAT AAAATATATATTATATTATTATAATATATATTATATAAAATATATATTAT ATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	368	0.0027	253	c.50 others(264): Show c.5085_*5086insTAATATAATATATATTTTATATAATATATATTAT AATAATATAATATATATTTTATATAATATATATTATATAATATAATATAT ATTTTATATAATATATATTATATATAATATAATATATATTTTATATAATA TATATTATATAATATAATATATATTTTATATAATATATATTATATATAAT ATAATATATATTTTATATAATATATATTATATATAATATAATATATATTT TATATAATATATATTATAT	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4853		chr12	TogoVar
MYT1_chr20_64159452_64247253	64176127	C C	CCTGCAGC others(246): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCT TCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTG GCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTG GCTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00558.hp2 others(16): Show HG00099.hp2 HG00408.hp1 HG00558.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG01168.hp2 HG01255.hp1 HG01261.hp1 HG01516.hp1 HG01517.hp1 HG02723.hp1 HG02735.hp1 HG02886.hp1 HG03017.hp1 HG03491.hp2 HG04228.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0017 a0001c0001 a0001c0004 a0001c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0004t0004 a0001c0017t0002	a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0001g0068 others(16): Show a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0149 a0001c0001t0003g0075 a0001c0001t0003g0090 a0001c0001t0003g0114 a0001c0001t0003g0126 a0001c0001t0009g0152 a0001c0001t0009g0153 a0001c0004t0004g0150 a0001c0017t0002g0046	19	223	0.0852	253	c.-99 others(272): Show c.-99+11441_-99+11442insCAGCATCTTTCCCTGTAGTTGTGTCC ATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTG TCCATTCCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTT GTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTT GTGTCCATTTCCCCTCCCTGGCTTCTGCAGCATCTTTCCCTGTAGTTGTG TCCATTTCCCCTCCCTGGCTTCTCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NLRP8_chr19_55942832_55993629	55993485	C C	CCCCTCTC others(246): Show CCCCTCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCT CCCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCGTCCCCCTCCCCTCCC CCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0000 a0000	a0000c0008 a0000c0008	a0000c0008t0071 a0000c0008t0071	a0000c0008t0071g0150 a0000c0008t0071g0150	1	350	0.0029	253	c.55 others(264): Show c.5572_*5573insCCCTCTCTCCCCCCTCTCTCCCCCCTCCCTCCCC CCTCCCTCCCCCTCTCCCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCG TCCCCCTCCCCTCCCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4857		chr19	TogoVar
NOTCH1_chr9_136489433_136551048	136535645	T T	TCCCGGGG others(246): Show TCCCGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCC CTCCCAGGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCC CTCCCAGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCC CTCCCAGGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCC CTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATC CCTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0194 a0001c0001t0032g0194	1	324	0.0031	253	c.140 others(270): Show c.140+8378_140+8379insGAGGGATCCTGAGTGCTCCCCCCTCCAC CCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCCACC CACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACC CACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACC CACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCA CCCACCCTGCACCCATTGCCCCGGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRAP_chr10_113583714_113669041	113647536	T T	TCCCCCAG others(246): Show TCCCCCAGTGGTACTGCCTCCCCCAGTGGTACTGTCTCCCCTGGTGGTAC TGTCTCCCCCAGTGGTACTGCCTCCCCCAGTGGTACTGCCTCCCCCGGTG GTACTGCCTCCCCTGGTGGTACTTCCTCCCCTAGTGGTACTGTCTCCCCC GGTGGTACTGTCTCCCCCGGTGGTACTTCCTCCCCTAGTGGTACTGTCTC CCCCGGTGGTACTGTCTCCCCCGGTGGTACTTCCTCCCCTAGTGGTACTG TCTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0033 a0033	a0033c0028 a0033c0028	a0033c0028t0002 a0033c0028t0002	a0033c0028t0002g0232 a0033c0028t0002g0232	1	398	0.0025	253	c.889 others(268): Show c.889-510_889-509insGAGACAGTACCACTAGGGGAGGAAGTACCA CCGGGGGAGACAGTACCACCGGGGGAGACAGTACCACTAGGGGAGGAAGT ACCACCGGGGGAGACAGTACCACCGGGGGAGACAGTACCACTAGGGGAGG AAGTACCACCAGGGGAGGCAGTACCACCGGGGGAGGCAGTACCACTGGGG GAGGCAGTACCACTGGGGGAGACAGTACCACCAGGGGAGACAGTACCACT GGGGGAGGCAGTACCACTGGGGG	NRAP	ENSG00000197893.14	transcript	ENST00000359988.4	protein_coding	9/41			chr10	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(246): Show ATATATAATATATATTATATATATAAAGTATATATAATATATATAATATA TATTATATATATAAAGTATATATATAATATATATAATATATATTATATAT ATAAAGTATATATATAATATATATTATATATAAAGTATATATATAATATA TATTATATATATAAAGTATATATATAATATATATTATATATAAAGTATAT ATATAATATATATTATATATATATAAAATATATAATATATATTATATATA TAAG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	308	0.0033	253	c.730 others(270): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATATAATATATATTATATATATACTTTATATA TAATATATATTATATATATACTTTATATATATAATATATATTATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATACT TTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar

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