Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NUP93_chr16_56725129_56855286	56739350	C C	CCCCCCCC others(657): Show CCCCCCCCACCTCCCTCCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCCACCTC CCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGACAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGC CGGGCGGAGGGCTGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0243 a0001c0001t0029g0243	1	351	0.0028	664	c.-14 others(681): Show c.-14-8864_-14-8863insGCGGGGGGCTGACCCCCCAACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCA CCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCCACCT CCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGACAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGG CCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGG	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(657): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	664	c.-26 others(675): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGA TAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATATGTCTATCTATAGATA GATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTA TAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(657): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	664	c.-26 others(675): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGA TAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATATGTCTATCTATAGATA GATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTA TAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(657): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA19002.hp1 NA18979.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	183	0.0109	664	c.-26 others(675): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTGTCTATCGA TAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATATGTCTATCTATAGATA GATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTA TAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TAATTATA others(657): Show TAATTATATATAATTATATATAATTATATAATTATATATAATTGTATATA ATTATTTATTATATAATTATATATTATTTATTATATAATTATATAATTAT ATATTATTTATTATATATTATATAATTATATAATTATATATTATTTATTA TATAATATATAATTATATATTATTTATTATATAATTATATATTATTTATT ATATATATTATTTATTATATAATTATATATTATGTATTATATAATTATAT AATTATATATTATGTATTATATAATTATATATTATGTATTATATAATTAT ATAATTATATATTATGTATTATATAATTATATATTATTTATTATATAATT ATATAATTATATATTATTTATTATATAATTATATAATTATATATTATTTA TTATATAATTATATAATTATATATTATTTATTATATAATTATATAATTAT ATATTATTTATTATATAATTATATATTATTTATTATATAATTATATATTA TTTATTACATAAATATATATTATTTATTACATAAGTATATATCACTTATT ATATAATTGCATATAATTATTTATTATATAATTGCATATAATTATTTATT ATATAATTGTATATAGTTATTTATTATATAATTGTATATAGTTATTTATT ATATAATTCTATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0089 a0001c0003t0002g0089	1	25	0.0400	664	c.862 others(681): Show c.862+3416_862+3417insATTATATATAATTATATATAATTATATA ATTATATATAATTGTATATAATTATTTATTATATAATTATATATTATTTA TTATATAATTATATAATTATATATTATTTATTATATATTATATAATTATA TAATTATATATTATTTATTATATAATATATAATTATATATTATTTATTAT ATAATTATATATTATTTATTATATATATTATTTATTATATAATTATATAT TATGTATTATATAATTATATAATTATATATTATGTATTATATAATTATAT ATTATGTATTATATAATTATATAATTATATATTATGTATTATATAATTAT ATATTATTTATTATATAATTATATAATTATATATTATTTATTATATAATT ATATAATTATATATTATTTATTATATAATTATATAATTATATATTATTTA TTATATAATTATATAATTATATATTATTTATTATATAATTATATATTATT TATTATATAATTATATATTATTTATTACATAAATATATATTATTTATTAC ATAAGTATATATCACTTATTATATAATTGCATATAATTATTTATTATATA ATTGCATATAATTATTTATTATATAATTGTATATAGTTATTTATTATATA ATTGTATATAGTTATTTATTATATAATTCTATATAA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRKCZ_chr1_2045411_2190395	2106871	C C	CCCTCCGG others(657): Show CCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCT TCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCA GGTGACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACACGTGTC ACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCC ACACGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCG AGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTC CGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGC AAGCCCCTCTGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTAA CTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACGTGTGTCACCAG GCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGT GTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACC TCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGG GCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCC TCCGGTGGGCGAGGA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0265 a0001c0003t0018g0265	1	263	0.0038	664	c.335 others(683): Show c.335-28386_335-28385insGGTGGGCGAGGACCTCCACACGTGTC ACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCC ACACGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCG AGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTC TGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGC AAGCCCCTCTGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGA CTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAG GCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACACG TGTCACCAGGCCAGGTAACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGAC CTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGG GCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCC CTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTC AGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGG TAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPH3AL_chr17_207389_357807	305109	A A	AGGGGACA others(657): Show AGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGG GGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGG ACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGAC AGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGG GCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGC GAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGG AGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAG GGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGG GACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGAC AGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAG GGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGC GGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGG AGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGG GGGACAGGGCGAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	20	0.0500	664	c.351 others(683): Show c.351+14310_351+14311insCTCTCGCCCTGTCCCCCTCCCGCCCT GTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTC TCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCC GCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCC CTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTG TCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCT CCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTC GCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGC CCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCC TGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SBNO2_chr19_1102638_1179268	1164894	G G	GAGGAGGA others(657): Show GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAGGAC ACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGGAGG AGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAG GAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAAG ACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGGA GGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGG AGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAG GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGA GGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAAC AGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGGAG GAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACAGGAGGAGGAGGAGGA GGCACAGGAGGAGGAGGAGGAAGCACAGGAGGAGGAGGAGGAACAGGAGG AGGAGGAGGAGGCAC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	149	0.0067	664	c.-12 others(683): Show c.-127+9277_-127+9278insGTGCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTGCTTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTC CTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTG TCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGCACCTG TTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCC TGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCACC TGTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTC CTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1164894	G G	GAGGAGGA others(657): Show GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAGGAC ACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGGAGG AGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAG GAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAAG ACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGGA GGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGG AGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAGGAACAG GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGA GGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAAC AGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGGAG GAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACAGGAGGAGGAGGAGGA GGCACAGGAGGAGGAGGAGGAAGCACAGGAGGAGGAGGAGGAACAGGAGG AGGAGGAGGAGGCAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01069.hp1 HG01069.hp2 others(3): Show HG00673.hp2 HG01069.hp1 HG01069.hp2 HG01256.hp2 HG01943.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0034 others(1): Show a0001c0001 a0001c0007 a0001c0034 a0001c0040	a0001c0001t0001 a0001c0007t0001 a0001c0034t0001 others(1): Show a0001c0001t0001 a0001c0007t0001 a0001c0034t0001 a0001c0040t0001	a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0166 others(3): Show a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0166 a0001c0007t0001g0069 a0001c0034t0001g0067 a0001c0040t0001g0057	6	154	0.0390	664	c.-12 others(683): Show c.-127+9277_-127+9278insGTGCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTGCTTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTC CTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTG TCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGCACCTG TTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCC TGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCACC TGTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTC CTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(657): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATATTCCATATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATATTCCATATATATATATATTCCAT ATATATATATATATTCCATATATATATATTCCATATATATATATATTCCA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATTCCATATATATATATTCCATATAT ATATATTCCATATATATATATTCCATATATATATATTCCATATATATATA TTCCATATATATATATATTCCATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATTCCATATATATATATTCC ATATATATATATTCC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0098 a0001c0003t0001g0098	1	230	0.0043	664	c.115 others(681): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATGGAATATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATGGAATATATATA TATATGGAATATATATATATGGAATATATATATATATATGGAATATATAT ATATATGGAATATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATATGGAATATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(657): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCC CCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCC CTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCCCTCCCTCCCCCCCCACCCCTTCCCCCTCCCCCTCCC CTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0018 a0001c0001t0056g0018	1	40	0.0250	664	c.77- others(681): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCC CACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCC TCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCCCTCCCTCCCCCCCCACCCCTTCCCCCTCCC CCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(657): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCC CCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCC CTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCCCTCCCTCCCCCCCCACCCCTTCCCCCTCCCCCTCCC CTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0084 a0001c0001t0005g0084	1	45	0.0222	664	c.22+ others(681): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCC CACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCC TCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCCCTCCCTCCCCCCCCACCCCTTCCCCCTCCC CCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA5_chr3_48462876_48509174	48499782	T T	TGAACCTG others(657): Show TGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCACGATTGCACT CCAGTCTAGATGCCAGAGCAAGACTCTGTCTCAAAAAAAATAAAAATAAA AAAGAAATACAAGTTTTTTTGTTTTTTGTTTTTTTTTTGAGACAGAGTCT CTTGCTCTGTCACCCAGCCAGGAGTGCAATGGTGCAATCTCGGCTCACTG CAATCTCCGCCTCCCGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGGTTACAGAAACCCACCACCACGTCCGGCTAGTTTTTTGTGTT TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCC CGACCTCAGGTGATCTGCCTGCCTGGACCTCCCAAAGTGCTGGCATTACA GGCATGAGCCACCGCGCCCGGTTTTTAAATGTTTTTAAAGACATTTGTAA AATATAAAAATGCCAGGCTGGGTGCTATGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGTCGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGAC CAGCCTGGCCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTA GCCGGGAGTAGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGCTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	194	0.0052	664	c.233 others(681): Show c.233+1354_233+1355insCAGCGATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACAGGCGTGCGCCACTACTCCCGGCTAATTTTGTATTT TTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCC GACCTCAGGTGATCTGCCTGCCTCGACCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCATAGCACCCAGCCTGGCATTTTTATATTTTACAAATGTCTT TAAAAACATTTAAAAACCGGGCGCGGTGGCTCATGCCTGTAATGCCAGCA CTTTGGGAGGTCCAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGACC AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAACACAAAAAACT AGCCGGACGTGGTGGTGGGTTTCTGTAACCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATCGCTGGAACCCGGGAGGCGGAGATTGCAGTGAGCCGAGA TTGCACCATTGCACTCCTGGCTGGGTGACAGAGCAAGAGACTCTGTCTCA AAAAAAAAACAAAAAACAAAAAAACTTGTATTTCTTTTTTATTTTTATTT TTTTTGAGACAGAGTCTTGCTCTGGCATCTAGACTGGAGTGCAATCGTGC GATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTC	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA5_chr3_48462876_48509174	48499782	T T	TGAACCTG others(657): Show TGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCACGATTGCACT CCAGTCTAGATGCCAGAGCAAGACTCTGTCTCAAAAAAAATAAAAATAAA AAAGAAATACAAGTTTTTTTGTTTTTTGTTTTTTTTTTGAGACAGAGTCT CTTGCTCTGTCACCCAGCCAGGAGTGCAATGGTGCAATCTCGGCTCACTG CAATCTCCGCCTCCCGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGGTTACAGAAACCCACCACCACGTCCGGCTAGTTTTTTGTGTT TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCC CGACCTCAGGTGATCTGCCTGCCTGGACCTCCCAAAGTGCTGGCATTACA GGCATGAGCCACCGCGCCCGGTTTTTAAATGTTTTTAAAGACATTTGTAA AATATAAAAATGCCAGGCTGGGTGCTATGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGTCGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGAC CAGCCTGGCCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTA GCCGGGCGTAGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGCTG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01167.hp2 HG01169.hp2 others(38): Show HG01074.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01891.hp2 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0002t0005	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0020 others(36): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0007g0092 a0001c0002t0005g0103 a0001c0002t0005g0104	41	234	0.1752	664	c.233 others(681): Show c.233+1354_233+1355insCAGCGATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACAGGCGTGCGCCACTACGCCCGGCTAATTTTGTATTT TTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCC GACCTCAGGTGATCTGCCTGCCTCGACCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCATAGCACCCAGCCTGGCATTTTTATATTTTACAAATGTCTT TAAAAACATTTAAAAACCGGGCGCGGTGGCTCATGCCTGTAATGCCAGCA CTTTGGGAGGTCCAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGACC AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAACACAAAAAACT AGCCGGACGTGGTGGTGGGTTTCTGTAACCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATCGCTGGAACCCGGGAGGCGGAGATTGCAGTGAGCCGAGA TTGCACCATTGCACTCCTGGCTGGGTGACAGAGCAAGAGACTCTGTCTCA AAAAAAAAACAAAAAACAAAAAAACTTGTATTTCTTTTTTATTTTTATTT TTTTTGAGACAGAGTCTTGCTCTGGCATCTAGACTGGAGTGCAATCGTGC GATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTC	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA5_chr3_48462876_48509174	48499782	T T	TGAACCTG others(657): Show TGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCACGATTGCACT CCAGTCTAGATGCCAGAGCAAGACTCTGTCTCAAAAAAAATAAAAATAAA AAAGAAATACAAGTTTTTTTGTTTTTTGTTTTTTTTTTGAGACAGAGTCT CTTGCTCTGTCACCCAGCCAGGAGTGCAATGGTGCAATCTTGGCTCACTG CAATCTCCGCCTCCCGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGGTTACAGAAACCCACCACCACGTCCGGCTAGTTTTTTGTGTT TTTAGTAAGGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCC CGACCTCAGGTGATCTGCCTGCCTGGACCTCCCAAAGTGCTGGCATTACA GGCATGAGCCACCGCGCCCGGTTTTTAAATGTTTTTAAAGACATTTGTAA AATATAAAAATGCCAGGCTGGGTGCTATGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGTCGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGAC CAGCCTGGCCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTA GCCGGGCGTAGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGCTG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	194	0.0052	664	c.233 others(681): Show c.233+1354_233+1355insCAGCGATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACAGGCGTGCGCCACTACGCCCGGCTAATTTTGTATTT TTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCC GACCTCAGGTGATCTGCCTGCCTCGACCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCATAGCACCCAGCCTGGCATTTTTATATTTTACAAATGTCTT TAAAAACATTTAAAAACCGGGCGCGGTGGCTCATGCCTGTAATGCCAGCA CTTTGGGAGGTCCAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGACC AGCCTGGCCAACATGGTGAAACCCCATCCTTACTAAAAACACAAAAAACT AGCCGGACGTGGTGGTGGGTTTCTGTAACCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATCGCTGGAACCCGGGAGGCGGAGATTGCAGTGAGCCAAGA TTGCACCATTGCACTCCTGGCTGGGTGACAGAGCAAGAGACTCTGTCTCA AAAAAAAAACAAAAAACAAAAAAACTTGTATTTCTTTTTTATTTTTATTT TTTTTGAGACAGAGTCTTGCTCTGGCATCTAGACTGGAGTGCAATCGTGC GATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTC	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA5_chr3_48462876_48509174	48499782	T T	TGAACCTG others(657): Show TGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCACGATTGCACT CCAGTCTAGATGCCAGAGCAAGACTCTGTCTCAAAAAAAATAAAAATAAA AAAGAAATACAAGTTTTTTTGTTTTTTGTTTTTTTTTTGAGACAGAGTCT CTTGCTCTGTCACCCAGCCAGGAGTGCAATGGTGCAATCTTGGCTCACTG CAATCTCCGCCTCCCGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGGTTACAGAAACCCACCACCACGTCCGGCTAGTTTTTTGTGTT TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCC CGACCTCAGGTGATCTGCCTGCCTGGACCTCCCAAAGTGCTGGCATTACA GGCATGAGCCACCGCGCCCGGTTTTTAAATGTTTTTAAAGACATTTGTAA AATATAAAAATGCCAGGCTGGGTGCTATGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGTCGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGAC CAGCCTGGCCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTA GCCGGGCGTAGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGCTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG01109.hp1 others(44): Show HG00544.hp2 HG00609.hp1 HG01109.hp1 HG01243.hp2 HG01884.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02280.hp1 HG02451.hp2 HG02622.hp1 HG02630.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG06807.hp2 NA18747.hp1 NA18943.hp2 NA18946.hp2 NA18951.hp1 NA18954.hp1 NA18963.hp1 NA18969.hp2 NA19000.hp1 NA19003.hp2 NA19012.hp2 NA19057.hp1 NA19065.hp1 NA19070.hp1 NA19076.hp1 NA19079.hp2 NA19080.hp2 NA19087.hp1 NA19090.hp1 NA20300.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0030 others(43): Show a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0006g0089 a0001c0004t0001g0035 a0002c0003t0001g0028	47	240	0.1958	664	c.233 others(681): Show c.233+1354_233+1355insCAGCGATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACAGGCGTGCGCCACTACGCCCGGCTAATTTTGTATTT TTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCC GACCTCAGGTGATCTGCCTGCCTCGACCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCATAGCACCCAGCCTGGCATTTTTATATTTTACAAATGTCTT TAAAAACATTTAAAAACCGGGCGCGGTGGCTCATGCCTGTAATGCCAGCA CTTTGGGAGGTCCAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGACC AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAACACAAAAAACT AGCCGGACGTGGTGGTGGGTTTCTGTAACCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATCGCTGGAACCCGGGAGGCGGAGATTGCAGTGAGCCAAGA TTGCACCATTGCACTCCTGGCTGGGTGACAGAGCAAGAGACTCTGTCTCA AAAAAAAAACAAAAAACAAAAAAACTTGTATTTCTTTTTTATTTTTATTT TTTTTGAGACAGAGTCTTGCTCTGGCATCTAGACTGGAGTGCAATCGTGC GATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTC	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA5_chr3_48462876_48509174	48499782	T T	TGAACCTG others(657): Show TGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCACGATTGCACT CCAGTCTAGATGCCAGAGCAAGACTCTGTCTCAAAAAAAATAAAAATAAA AACGAAATACAAGTTTTTTTGTTTTTTGTTTTTTTTTTGAGACAGAGTCT CTTGCTCTGTCACCCAGCCAGGAGTGCAATGGTGCAATCTCGGCTCACTG CAATCTCCGCCTCCCGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGGTTACAGAAACCCACCACCACGTCCGGCTAGTTTTTTGTGTT TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCC CGACCTCAGGTGATCTGCCTGCCTGGACCTCCCAAAGTGCTGGCATTACA GGCATGAGCCACCGCGCCCGGTTTTTAAATGTTTTTAAAGACATTTGTAA AATATAAAAATGCCAGGCTGGGTGCTATGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGTCGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGAC CAGGCTGGCCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTA GCCGGGCGTAGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGCTG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	194	0.0052	664	c.233 others(681): Show c.233+1354_233+1355insCAGCGATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACAGGCGTGCGCCACTACGCCCGGCTAATTTTGTATTT TTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGCCTGGTCTTGAACTCCC GACCTCAGGTGATCTGCCTGCCTCGACCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCATAGCACCCAGCCTGGCATTTTTATATTTTACAAATGTCTT TAAAAACATTTAAAAACCGGGCGCGGTGGCTCATGCCTGTAATGCCAGCA CTTTGGGAGGTCCAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGACC AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAACACAAAAAACT AGCCGGACGTGGTGGTGGGTTTCTGTAACCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATCGCTGGAACCCGGGAGGCGGAGATTGCAGTGAGCCGAGA TTGCACCATTGCACTCCTGGCTGGGTGACAGAGCAAGAGACTCTGTCTCA AAAAAAAAACAAAAAACAAAAAAACTTGTATTTCGTTTTTATTTTTATTT TTTTTGAGACAGAGTCTTGCTCTGGCATCTAGACTGGAGTGCAATCGTGC GATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTC	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SLAIN1_chr13_77692687_77769229	77703950	A A	AAATATAT others(657): Show AAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAATAT ATATACATATGTTTTATAAGTGTATATATACACATATAAAATATATATAC ATATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGT TTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTGTATATATACA CATATAAAATATATATACATATGTTTTATATGTGTATATATACACATATA AAATATATATACATATGTTTTATATGTGTATATATACACATATAAAATAT ATATACATATGTTTTATATGTGTATATATACACATATAAAATATATATAC ATATGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTA TATGTATATATATACATATAAAATATATATACATATAAAATATATATGTT TTATATGTATATATACATATAAAATATATATACATATGTTTTATATGTAT ATATATACATATAAAACATATATACATATGTTTTATATGTGTATATATAC ATAGAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0116 a0001c0001t0004g0116	1	293	0.0034	664	c.626 others(681): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTT TATATGTGTATATATACACATAAAATATATATACATATGTTTTATATGTG TATATATACACATATAAAATATATATACATATGTTTTATATGTGTATATA TACACATATAAAATATATATACATATGTTTTATATGTGTATATATACACA TATAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAA ATATATATACATATGTTTTATATGTGTATATATACACATATAAAATATAT ATACATATGTTTTATATGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTATA TGTATATATATACATATAAAATATATATACATATAAAATATATATGTTTT ATATGTATATATACATATAAAATATATATACATATGTTTTATATGTATAT ATATACATATAAAACATATATACATATGTTTTATATGTGTATATATACAT AGAAAATATATATAATATATATACATATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(657): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGGAGGAGGGGGGAGGAGGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGAGG GGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAGGG GAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTC CGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGAAGA GGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0106 a0002c0003t0001g0106	1	2	0.5000	664	c.624 others(679): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTC TCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTCTCTCCTCCT CCCCTCCTCCTCTCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCT CCTCTCCTCCTCCCCCCTCCTCCTCTCCTCCTCCCCTCTTCTCTCCTCCT CCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTT CTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTT CTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCC CCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCC CTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCC TCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCC CTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCT CCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(657): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGGAGGAGGAGGAAG TGAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGG GGAGGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAG AGAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAGAG GGGGGAGGGAGAGGAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAGGG GAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTC CGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGAAGA GGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0105 a0002c0003t0001g0105	1	2	0.5000	664	c.624 others(679): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTC TCCTCCTCCTCCTCTCTTCCTCCTCTCCCTCCCCCCTCTTCTCTCCTCCT CCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTCTCTCCTCCTCCCCTCC TCCTCTCTCCTCCTCCCCTCCTCCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCTCCTCCTCCCCTCCTTT CTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCTCCTCCTTTC TCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCCC CCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCC CTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCC TCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCC CTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCT CCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(657): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGG AGAGAGGAGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGAGGAGAGG AAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGAAGAGAGG AGGAGGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGGAGGAAGG AGGGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAAGGAGGA GGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	2	0.5000	664	c.624 others(679): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTG CCTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTC CCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCC CCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCT TTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCT TTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCT CCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCT CCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCC CCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCT CCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTC CTCCTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC44A5_chr1_75197129_75616114	75280137	T T	TATATATA others(657): Show TATATATATTGTATATCTAATATATATTATATATATTTTATATTGTATAT ATAATATATATAGTATATATTATATATTGTATATAATATATATAGTATAT ATTATATATTGTATATAATATATATAGTATATATTATATATTGTATATAT TATACATTGTATATATAATATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATAATATATATATTGTATATATTATATATTGTATATATAATA TATATTGTATATATTATATATTGTATATATAATATATATATTGTATATAT TATATATTGTATATATAATATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATAATATATATATTGTATATATTATATATTGTATATATAATA TATATAGTATATATTATATATTGTATATATAATATATATAGTATATATTA TATATTGTATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	46	0.0217	664	c.176 others(681): Show c.176-5096_176-5095insTATATATACAATATATAATATATACTAT ATATATTATATATACAATATATAATATATACTATATATATTATATATACA ATATATAATATATACAATATATATATTATATATACAATATATAATATATA CAATATATATATTATATATACAATATATAATATATACAATATATATATTA TATATACAATATATAATATATACAATATATATATTATATATACAATATAT AATATATACAATATATATATTATATATACAATATATAATATATACAATAT ATATATTATATATACAATATATAATATATACAATATATATTATATATACA ATATATAATATATACAATATATATATTATATATACAATATATAATATATA CAATATATATATTATATATACAATATATAATATATACAATATATATATTA TATATACAATATATAATATATACAATATATATATTATATATACAATATAT AATATATACAATATATATATTATATATACAATGTATAATATATACAATAT ATAATATATACTATATATATTATATACAATATATAATATATACTATATAT ATTATATACAATATATAATATATACTATATATATTATATATACAATATAA AATATATATAATATATATTAGATATACAATATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(657): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGG AAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAG GGGGAGGAGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGG AGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGG GAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGG AGGGAGGGGAGAGGGGAGGGGGGAGGGGAGAGGGGAGAGGAGGGGGAGGG GGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	135	0.0074	664	c.12 others(675): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCC TCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCC CCCTTCCCCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCT CCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCCCTTCCCCTCCCCTCC CCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCTCTCCC CTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCCCCC TCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCT CTGCCCTCCCCTCCCCTCTCCCCATCCCCCTTCCCCCTCCCCTCTCCTCT CCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCT CCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCT CCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCCT TCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
TBC1D22A_chr22_46757650_47180693	46772609	T T	TATATATG others(657): Show TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATACATATATATGTATACACACATATACATATA TATGTATACACACATATACATATATATGTATACACACATATACATATATA TGTATACACACATATACATATATATGTATACACACATATACATATATATG TATACACACATATACATATATATGTATACACACATATACATATATATGTA TACACACATATACATATATATGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATACATATATATGTATACACA CATATACATATATATGTATACACACATATACATATATATGTATACACACA TATACATATATATGTATACACACATATACATATATATGTATACACACATA TACATATATATGTATACACACATATACATATATATGTATACACACATATA CATATATATGTATACACACATATACATATATATGTATACACACATATACA TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	36	0.0278	664	c.62+ others(679): Show c.62+9766_62+9767insTGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATACATATATATGTATACACA CATATACATATATATGTATACACACATATACATATATATGTATACACACA TATACATATATATGTATACACACATATACATATATATGTATACACACATA TACATATATATGTATACACACATATACATATATATGTATACACACATATA CATATATATGTATACACACATATACATATATATGTATACACACATATACA TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATACATATATATGTATACACACATATACATATA TATGTATACACACATATACATATATATGTATACACACATATACATATATA TGTATACACACATATACATATATATGTATACACACATATACATATATATG TATACACACATATACATATATATGTATACACACATATACATATATATGTA TACACACATATACATATATATGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47128187	C C	CCCCCATC others(657): Show CCCCCATCCTCCCTCCACCCCACCCATCCCCCCATCCTCCCTCCACCCCA CCCATCCTCTCCTCCGCCCAACCCATCCCCCCTCCCCTCACCCATCCCTC ATCCCCCCTCCACCCCACACATCCCCCATCCTCCCTCCACCCCACCCATC CCCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACC CATCCCCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCC CACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCC ACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACCCA TCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTC CGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCA TCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCC TCCCCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCA CCCACCACCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCC ATCCTCCCTCCACCCCACCCATTCTCCCCTCCACCCCACCCATCCCCCAT CCTCCCTCCACCCCA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0085 a0001c0001t0005g0085	1	109	0.0092	664	c.142 others(685): Show c.1425+16587_1425+16588insCATCCTCCCTCCACCCCACCCATC CCCCCATCCTCCCTCCACCCCACCCATCCTCTCCTCCGCCCAACCCATCC CCCCTCCCCTCACCCATCCCTCATCCCCCCTCCACCCCACACATCCCCCA TCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCC CCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCC ATCCCCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCC ACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTCCCCTCTGCCCCAC CCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCC CTCCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCAC CCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCC CTCCGCCCCACCCATCCCTCCCTCCCCCCCACCCATCCCTCCCTCCGCCC CACCCATCCCTCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCC CCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCC CTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
THEG_chr19_356747_381026	376905	G G	GCCCCACC others(657): Show GCCCCACCCAGCCTCTCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCCC CGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCC CCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCC CCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAG CCTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCC CACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTG CCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCTTAGTGCCCCCACCCAGCCTCTCCCCC TGTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCC TCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	319	0.0031	664	c.-93 others(673): Show c.-936_-935insGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACA GAGGGGGAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGCTGGGTGGGGG CACTAAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGG TGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGC TGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAG GCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGG GAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGC ACGGGGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGG GGCACAGGGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		880		chr19	TogoVar
THEG_chr19_356747_381026	377282	C C	CCCCCTGT others(657): Show CCCCCTGTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGC CTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTGTGTGCC CCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTG TGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCA GCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCTGTGCC CCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTG CCCCACCCAGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0086 a0001c0001t0020g0086	1	329	0.0030	664	c.-13 others(675): Show c.-1313_-1312insAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTG GGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGC TGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAG AGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG GGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGG TGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGC TGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGA GGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGG AGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAG GGGGAGAGGCTGGGTGGGGGCACACAGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1257		chr19	TogoVar
THEG_chr19_356747_381026	377283	C C	CCCCTCTG others(657): Show CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGCC TCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCC ACCCAGCCTCTCCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCTGT GCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCTCCGTGCCCCCACCCAGCCTCTCCCCCC CCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGC CTCTCCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTACCC CCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTG CCCCACCCAGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	349	0.0029	664	c.-13 others(675): Show c.-1314_-1313insAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTG GGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGTACAGAGGGGGAGAGG CTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGA GAGGCTGGGTGGGGGCACAGAGGGGGGAGAGGCTGGGTGGGGGCACGGGG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG GGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGG GGGCACGGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGG TGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTG GGTGGGGGCACAGAGGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGA GGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGG GAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACGGG GGGGGAGAGGCTGGGTGGGGGCACAGAGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1258		chr19	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(657): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCT CCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCT CCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTC CTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTC TCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCC CTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCC TCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTCCTCTC CTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCT CCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCTCCTC CTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTCTTCCTC CTCCTCCCCTTCTCT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02735.hp1 HG01993.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0294 a0001c0001t0002g0237 a0001c0001t0001g0294 a0001c0001t0002g0237	2	9	0.2222	664	c.424 others(681): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCC TCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCT CCTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCT CCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTC CCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCT TCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTC CCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCT CCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TRIM48_chr11_55257155_55276114	55273400	A A	ATTATATA others(657): Show ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT AAAAATTATATATATATTATATATATAAAAATTATATATATTATATATAT AAAAATTATATATATATTATATATATAAAAATTATATATATATTATATAT ATAAAAATTATATATATATTATATATATATAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATATAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATAAAAATTATATATATATAATATATATATATAA AAATTATATATATATATTATATATATATAAAAATTATATATATATATTAT ATATATATAAAAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	269	0.0037	664	c.29 others(675): Show c.2965_*2966insTTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATAAAAATTATATATATATTATATATATAAAAATTAT ATATATTATATATATAAAAATTATATATATATTATATATATAAAAATTAT ATATATATTATATATATAAAAATTATATATATATTATATATATATAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATATAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATAAAAATTATATATATAT AATATATATATATAAAAATTATATATATATATTATATATATATAAAAATT ATATATATATATTATATATATATAAAAATT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2287		chr11	TogoVar
UBE2E3_chr2_180975605_181068425	181021562	T T	TCCTTCCT others(657): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCT TCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCC CTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCT TCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCC CTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCT CCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCTCC CTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCT TCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCC CTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	115	0.0087	664	c.246 others(683): Show c.246-36120_246-36119insTCCTTCCTTCCTTCCTCCCTCCCTCC CTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCT TCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTC CTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCT TCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCT TCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTC CTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCT TCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCT CCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTC CTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCT	UBE2E3	ENSG00000170035.16	transcript	ENST00000410062.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
VAMP2_chr17_8154149_8167948	8166152	G G	GGCGCAGT others(657): Show GGCGCAGTGGTTCAGGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAG GTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAA CCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCA CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCTGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCACCACTGCACTCCAGCC TGGGCTACAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAGAAAGAAAGGAGCTGGGTCGTTCCCACACTGACTCATGAACTTGCTTC ATCCACATGAATCAAACCTGACTGAACTTATAATTAATTTCAGAGGCCTG TGTGTCCCTCAGTGCAGCTTGTGAAGTAAAGGCCTTCTAATGAGTAATAG AAAGGTCAGCCCTCCACCATTGCAATCAGCTGTGACGTCTGGTGAACCCT CCAGGCCACAAGGTTCTCAGAGCTGCCTGTCCAGCTCTGGGCTCCTGGAA GGAGGGGACACTCCAGGGACCCACTGTGTGCCAGACAGTTGGCATGGATT GCCACATGTGCTCAATTTGTTTTTATTTTTACTTATTTTTGAGACGAAGT CTCACTCTTTCGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0036 a0001c0001t0015g0036	1	2	0.5000	664	c.-32 others(675): Show c.-3274_-3273insTGGCGAAAGAGTGAGACTTCGTCTCAAAAATAAG TAAAAATAAAAACAAATTGAGCACATGTGGCAATCCATGCCAACTGTCTG GCACACAGTGGGTCCCTGGAGTGTCCCCTCCTTCCAGGAGCCCAGAGCTG GACAGGCAGCTCTGAGAACCTTGTGGCCTGGAGGGTTCACCAGACGTCAC AGCTGATTGCAATGGTGGAGGGCTGACCTTTCTATTACTCATTAGAAGGC CTTTACTTCACAAGCTGCACTGAGGGACACACAGGCCTCTGAAATTAATT ATAAGTTCAGTCAGGTTTGATTCATGTGGATGAAGCAAGTTCATGAGTCA GTGTGGGAACGACCCAGCTCCTTTCTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCTCTGTAGCCCAGGCTGGAGTGCAGTGGTGC GATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCAG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAG CTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGG ATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAG TGCTGGGATTACAGGCCTGAACCACTGCGC	VAMP2	ENSG00000220205.10	transcript	ENST00000316509.11	protein_coding		3205		chr17	TogoVar
VAMP2_chr17_8154149_8167948	8166152	G G	GGCGCAGT others(657): Show GGCGCAGTGGTTCAGGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCGG GTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAA CCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCA CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCTGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCACCACTGCACTCCAGCC TGGGCTACAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAGAAAGAAAGGAGCTGGGTCGTTCCCACACTGACTCATGAACTTGCTTC ATCCACATGAATCAAACCTGACTGAACTTATAATTAATTTCAGAGGCCTG TGTGTCCCTCAGTGCAGCTTGTGAAGTAAAGGCCTTCTAATGAGTAATAG AAAGGTCAGCCCTCCACCATTGCAATCAGCTGTGACGTCTGGTGAACCCT CCAGGCCACAAGGTTCTCAGAGCTGCCTGTCCAGCTCTGGGCTCCTGGAA GGAGGGGACACTCCAGGGACCCACTGTGTGCCAGACAGTTGGCATGGATT GCCACATGTGCTCAATTTGTTTTTATTTTTACTTATTTTTGAGACGAAGT CTCACTCTTTCGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00438.hp1 others(76): Show HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01106.hp2 HG01109.hp2 HG01255.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03195.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG04184.hp1 HG04199.hp2 NA18747.hp2 NA18940.hp2 NA18950.hp1 NA18952.hp2 NA18959.hp2 NA18962.hp2 NA18966.hp1 NA18972.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18989.hp1 NA18990.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19011.hp2 NA19060.hp1 NA19067.hp1 NA19078.hp1 NA19079.hp2 NA19083.hp1 NA19087.hp1 NA19090.hp1 NA20129.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0045 a0001c0001t0046 a0001c0001t0049 a0001c0001t0050 a0001c0001t0055	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0002g0002 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0004g0004 a0001c0001t0005g0005 a0001c0001t0006g0008 a0001c0001t0006g0058 a0001c0001t0007g0007 a0001c0001t0009g0009 a0001c0001t0011g0012 a0001c0001t0013g0014 a0001c0001t0013g0038 a0001c0001t0014g0013 a0001c0001t0016g0016 a0001c0001t0017g0017 a0001c0001t0025g0024 a0001c0001t0027g0027 a0001c0001t0028g0028 a0001c0001t0029g0026 a0001c0001t0030g0032 a0001c0001t0031g0033 a0001c0001t0035g0049 a0001c0001t0045g0068 a0001c0001t0046g0069 a0001c0001t0049g0072 a0001c0001t0050g0073 a0001c0001t0055g0077	79	80	0.9875	664	c.-32 others(675): Show c.-3274_-3273insTGGCGAAAGAGTGAGACTTCGTCTCAAAAATAAG TAAAAATAAAAACAAATTGAGCACATGTGGCAATCCATGCCAACTGTCTG GCACACAGTGGGTCCCTGGAGTGTCCCCTCCTTCCAGGAGCCCAGAGCTG GACAGGCAGCTCTGAGAACCTTGTGGCCTGGAGGGTTCACCAGACGTCAC AGCTGATTGCAATGGTGGAGGGCTGACCTTTCTATTACTCATTAGAAGGC CTTTACTTCACAAGCTGCACTGAGGGACACACAGGCCTCTGAAATTAATT ATAAGTTCAGTCAGGTTTGATTCATGTGGATGAAGCAAGTTCATGAGTCA GTGTGGGAACGACCCAGCTCCTTTCTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCTCTGTAGCCCAGGCTGGAGTGCAGTGGTGC GATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCAG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAG CTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGG ATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCCGCCTCCCAAAG TGCTGGGATTACAGGCCTGAACCACTGCGC	VAMP2	ENSG00000220205.10	transcript	ENST00000316509.11	protein_coding		3205		chr17	TogoVar
VCX2_chrX_8164944_8176267	8169203	T T	TCCTCCCT others(657): Show TCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACAC ACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCT CCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCC TCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCTCACACACCACCG CTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCA TCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCA CCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCT CCCTCCCTCCCTCCCCACACCACCTCTTCCTCCCTCCCTCCCTCCCCACA CACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCC TCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACCACC TCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCC CCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCC CTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACA CACCACCGCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0032 a0002c0001t0001g0032	1	83	0.0120	664	c.82 others(673): Show c.828_*829insGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGATGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGAGGAGGGAG GGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		740		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(657): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19002.hp1 NA18979.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0139 a0001c0001t0001g0029 a0001c0001t0001g0139	2	178	0.0112	664	c.53+ others(679): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATC TATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
YBEY_chr21_46281342_46302751	46292638	A A	AACTCTAG others(657): Show AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCTGTGCCCGGGACTCA GTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTG GAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGA GTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0159 a0001c0001t0004g0159	1	334	0.0030	664	c.339 others(681): Show c.339+1305_339+1306insGGACAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCTGTGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGC CACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCA CACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCC TCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292989	G G	GAGTCAGC others(657): Show GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGAATCAGCCACACAAGTTAGACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGG GACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGACAGCCACACAAGTTAGACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT CAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGACA GCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0198	1	395	0.0025	664	c.339 others(681): Show c.339+1527_339+1528insAGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAATC AGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGACAG CCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGAGACAGCCACACAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGC CCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4			chr21	TogoVar
YBEY_chr21_46281342_46302751	46293066	A A	ACAGCCAC others(657): Show ACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATT AAATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAATCA GCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAAT TCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC GCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGC CCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCC GGGACTCAGTGGAGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03209.hp2 HG02559.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0134 a0001c0001t0001g0135	2	216	0.0093	664	c.339 others(681): Show c.339+1611_339+1612insACAAGTTAAACTCTAGATTAAATTCCTC CTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAG TTAAACTCTAGATTAAATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGG ACTCAGTGGAATCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCG CGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTT AAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAA ACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGT GGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294687	A A	AGTGGGGA others(657): Show AGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTG GGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGA GTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCTGGAGTCAGCCACGCAAGTTAGACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCA GCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CATGCCCGGGACTCG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	274	0.0036	664	c.340 others(681): Show c.340-1471_340-1470insGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCAT GCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCTGGAGTCAGCCACGC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCATGCCCGGGACTCGGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294687	A A	AGTGGGGA others(657): Show AGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTG GGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGA GTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCTGGAGTCAGCCACGCAAGTTAGACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCA GCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CATGCCCGGGACTCG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	274	0.0036	664	c.340 others(681): Show c.340-1471_340-1470insGGACAGCCACGCAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCC ACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCAT GCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCTGGAGTCAGCCACGC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCATGCCCGGGACTCGGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294693	G G	GTCAGCCA others(657): Show GTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGA CAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCA GCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCTGGAGTCAGCCACA CAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCC CGGGACTCGGTGGAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	198	0.0051	664	c.340 others(681): Show c.340-1461_340-1460insACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGT TAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCT GGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCATGCCCGGGACTCGGTGGAATCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294693	G G	GTCAGCCA others(657): Show GTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT CAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCA GCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCTGGAGTCAGCCACA CAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCC CGGGACTCGGTGGAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	198	0.0051	664	c.340 others(681): Show c.340-1461_340-1460insACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCT GGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCATGCCCGGGACTCGGTGGAATCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(657): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGAAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGAGGGGAGGGAGGGAGGGAA GTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGCGAGGGAGGGAAGGCAGG GAGGGGAGGGGAGGGAGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGG GAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGG AGGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGAGGGGAG GGAGGGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAGGGAAGG GAAGGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAATGGAAAG AAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0211 a0001c0001t0003g0211	1	72	0.0139	664	c.205 others(683): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCCTCCCTGCCTTCCC TCCCTCGCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTC CCTCCCCTCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCC CTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCT CCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTCCCTCCC CTTCCCTCCCCTCCCTTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCC CTCCCCTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTCCCTCAC TCCCTCCCTCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTCTCACTT CCCTTTTCTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ADPRHL1_chr13_113394611_113458488	113418971	C C	CTCTTTTC others(658): Show CTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCC TTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTC CCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCC CTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCTTCCTTCCTTCTTCC CTCCCTCCCTCCCTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCCCTC CCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTC CCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCT TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTT TCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTTCACTCCC TCCTTCCTTCCTTCTTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTTC CTGTCTTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCC CTCCCCTTCCCTTCCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0090 a0002c0005t0090	a0002c0005t0090g0055 a0002c0005t0090g0055	1	204	0.0049	665	c.106 others(684): Show c.1061+3854_1061+3855insAGGAAGGGAAGGGGAGGGGAAGGGGA AGAAAGGAAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAAAAGAGGAAGGGAGGGAGAGAGGGAAAAGACAGGAAGGGAGGG AGAGAGGGAGGGAGGGAGGGAGGGAAGAAGGAAGGAAGGAGGGAGTGAAG GAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAA GGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGA GGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGA AAAGACAGGAAGGGAGGGAGAGAGGGAGGGAGGGAGGGAGGGAAGAAGGA AGGAAGGAGGGAGTGAAGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAA GGGGAAGAAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGA AGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGGAGG GAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAAGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(658): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC AGCCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0001 a0001c0010t0001g0001	1	296	0.0034	665	c.36 others(676): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCA GCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCAGCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(658): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGAC GGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGCGTACGGGGCAGGTGAGT AGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGT AGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGT GAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGT GAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0013 a0009c0016t0013	a0009c0016t0013g0246 a0009c0016t0013g0246	1	103	0.0097	665	c.300 others(682): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACG TGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGCG TACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TATGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGG TACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CECR2_chr22_17364460_17563151	17524554	G G	GGCTAATT others(658): Show GGCTAATTTTTTGTATTGTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTTTTCTG TTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCTTA GATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACAGA TCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGTGT ATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTGGC TTTTTTAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCTAA GAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGTTA CTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAGG CTGGAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGG TTCTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCA CCCACTACCACGCCCA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01884.hp2 others(2): Show HG01167.hp2 HG01169.hp2 HG01884.hp2 HG02257.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0016	a0001c0001t0001g0134 a0001c0001t0002g0080 a0001c0001t0002g0157 others(2): Show a0001c0001t0001g0134 a0001c0001t0002g0080 a0001c0001t0002g0157 a0001c0001t0013g0309 a0001c0001t0016g0312	5	89	0.0562	665	c.110 others(682): Show c.1108+299_1108+300insGTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTT TTCTGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTT TCTTAGATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATA ACAGATCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATA AGTGTATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGAT TTGGCTTTTTTAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTG GCTAAGAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAA AGTTACTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGC CCAGGCTGGAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATC CCGGGTTCTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCACCCACTACCACGCCCAGCTAATTTTTTGTATT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CKAP2_chr13_52450478_52481627	52460703	C C	CGGCCTCC others(658): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT GTTTACACTGTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGAT GGCTCACACTTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCA CCTCAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGT CTCTATTAAAAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAA TCCCAGCTACTCAGGAGGCTGAGGCAGGAAACTCGCTTGAAACCCGGGAG GCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTG ACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATTTGCTTAGGACAAAT TTCTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGC TCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTGCAACC TCCACCTCCCAGGTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCT GGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTATTTTTAGTG GAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTT GTGATCCACCTGCCTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0127 a0003c0005t0001g0127	1	2	0.5000	665	c.156 others(680): Show c.156-168_156-167insGTGAGCCACCGCGCCCGGCCTGTTTACACT GTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGATGGCTCACAC TTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCACCTCAGGTC AGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTATTAA AAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAATCCCAGCTA CTCAGGAGGCTGAGGCAGGAAACTCGCTTGAAACCCGGGAGGCAGAGGTT GCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGA GACTCCATCTCAAAAAAAAAAAAAATTTGCTTAGGACAAATTTCTTTTTT TTTTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACC CAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCC CAGGTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACA GGCGCCTGCCACCACGCCCGGCTAATTTTTTATTTTTAGTGGAGACAGGG TTTCACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGTGATCCAC CTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGC	CKAP2	ENSG00000136108.15	transcript	ENST00000258607.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CKAP2_chr13_52450478_52481627	52460703	C C	CGGCCTCC others(658): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT GTTTACACTGTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGAT GGCTCACACTTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCA CCTCAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGT CTCTATTAAAAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAA TCCCAGCTACTCAGGAGGCTGAGGCAGGAAACTCTCTTGAAACCCGGGAG GCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTG ACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAATTTGCTTAGGACAAA TTTCTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGC TCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTACAACC TCCACCTCCCAGGTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCT GGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTATTTTTAGTG GAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTT GTGATCCACCTGCCTT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	2	0.5000	665	c.156 others(680): Show c.156-168_156-167insGTGAGCCACCGCGCCCGGCCTGTTTACACT GTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGATGGCTCACAC TTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCACCTCAGGTC AGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTATTAA AAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAATCCCAGCTA CTCAGGAGGCTGAGGCAGGAAACTCTCTTGAAACCCGGGAGGCAGAGGTT GCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGA GACTCCATCTCAAAAAAAAAAAAAAATTTGCTTAGGACAAATTTCTTTTT TTTTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACC CAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTACAACCTCCACCTCC CAGGTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACA GGCGCCTGCCACCACGCCTGGCTAATTTTTTATTTTTAGTGGAGACAGGG TTTCACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGTGATCCAC CTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGC	CKAP2	ENSG00000136108.15	transcript	ENST00000258607.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CTDP1_chr18_79674803_79759503	79691483	A A	AGCTCCCA others(658): Show AGCTCCCAGGGTGGACTCGGTGTGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGG GGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGG GGGAGGAGTGGACAGCTCCCTGGGTGGGGGAGGAGTGGACGGCTCCCAGG GTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGG TGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGG ACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGG GTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGG TGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGG ACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGG GTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGG TGGGGAGGAGTGGACG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	376	0.0027	665	c.315 others(682): Show c.315-3723_315-3722insTGTGGGGAGGAGTGGACGGCTCCCAGGG TGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGT GGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGA CGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGG TGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGT GGGGGAGGAGTGGACAGCTCCCTGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar

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