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
PPP6R2_chr22_50338327_50450090	50397569	C C	CTGTCATC others(846): Show CTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGC AGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCAT CTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGT TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGG GGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTG TGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTC TGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGT CCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGG GATGGGGGCGGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCA GCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	242	0.0041	853	c.227 others(870): Show c.227+3441_227+3442insCCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGA GTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTC ACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTC TGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCC TGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGG GGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGT GTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCT CTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTG TCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTG GGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACC AGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGA GGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCCTGTC ATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGG GCCTGTCCTCACCAGCCTTGTCATC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PTDSS2_chr11_445279_496399	475247	G G	GTACGGAC others(846): Show GTACGGACATATTCACGCGTTTGTGATATGGACATATTCACGCGTTTGTG TGATACGGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTG TGTGATACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTT TGTGTGATATGGACACATTCACGTGTTTGTGTGTAGGACACATTCACGTG TTTGTGTGTAGGACATATTCACGCGTTTGTGTGATACGGACATATTCACG CGTTTGTGATACGGACATATTCACACGTTTGTGTGATGCGGACATATTCA CGCGTTTGTGTGATACGGACATATTCACGCGTGTGTGATACGGCCATATT CACGCGTTTGTGATACGGACATATTCACGCGTTTGTGTGATATGGCCATA TTCACGTGTTTGTGATACGGACATATTCACACGTTTGTGTGATACGGCCA TATTCACGCGTTTGTGATACGGACATATTCACACGTTTGTGTGATGCGGA CATATTCATGCGTTTGTGATACGGACATATTCACGCGTTTGTGTGATACG GCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTGTAG GACATATTCACGTGTTTGTGTGTATGGACATATTCACGCGTTTGTGATAC AGACATTCACGCGTTTGTGTGTACAGACATATTCACGCATTTGTGTGATA CAGATATATTCACGCATTTGTGATACGGCCATATTCACACGTTTGTGATA CGGACATATTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGA TACGGACATATTCACACGTTTGTGTGATGCGGACATATTCACGCGTTTGT GTGA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	220	0.0045	853	c.367 others(870): Show c.367+1297_367+1298insTGGACATATTCACGCGTTTGTGTGATAC GGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTGTGTGAT ACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTG ATATGGACACATTCACGTGTTTGTGTGTAGGACACATTCACGTGTTTGTG TGTAGGACATATTCACGCGTTTGTGTGATACGGACATATTCACGCGTTTG TGATACGGACATATTCACACGTTTGTGTGATGCGGACATATTCACGCGTT TGTGTGATACGGACATATTCACGCGTGTGTGATACGGCCATATTCACGCG TTTGTGATACGGACATATTCACGCGTTTGTGTGATATGGCCATATTCACG TGTTTGTGATACGGACATATTCACACGTTTGTGTGATACGGCCATATTCA CGCGTTTGTGATACGGACATATTCACACGTTTGTGTGATGCGGACATATT CATGCGTTTGTGATACGGACATATTCACGCGTTTGTGTGATACGGCCATA TTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTGTAGGACATA TTCACGTGTTTGTGTGTATGGACATATTCACGCGTTTGTGATACAGACAT TCACGCGTTTGTGTGTACAGACATATTCACGCATTTGTGTGATACAGATA TATTCACGCATTTGTGATACGGCCATATTCACACGTTTGTGATACGGACA TATTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGA CATATTCACACGTTTGTGTGATGCGGACATATTCACGCGTTTGTGTGATA CGGACATATTCACGCGTTTGTGATA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	475247	G G	GTACGGAC others(846): Show GTACGGACATATTCACGCGTTTGTGATATGGACATATTCACGCGTTTGTG TGATACGGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTG TGTGATACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTT TGTGTGATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGCG TTTGTGTGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACA CGTTTGTGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATT CACGCGTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATT CACGCGTTTGTGTGATATGGCCATATTCACGTGTTTGTGATACGGACATA TTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACA TATTCACACGTTTGTGATACGGACATATTCACACGTTTGTGTGATGCGGA CATATTCATGCGTTTGTGATACGGACATATTCACGCGTTTGTGTGATACG GCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTGTAG GACATATTCACGTGTTTGTGTGTATGGACATATTCACGCGTTTGTGATAC AGACATTCACGCGTTTGTGTGTACAGACATATTCACGCATTTGTGTGATA CAGATATATTCACGCATTTGTGATACGGCCATATTCACACGTTTGTGATA CGGACATATTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGA TACGGACATATTCACACGTTTGTGTGATGCGGACATATTCACGCGTTTGT GTGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00642.hp1 others(22): Show HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG02602.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03492.hp2 NA18522.hp1 NA18747.hp2 NA18939.hp2 NA18945.hp1 NA18967.hp1 NA19002.hp1 NA19004.hp1 NA19064.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0042 others(20): Show a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0063 a0001c0001t0002g0071 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0121 a0001c0001t0002g0297 a0001c0001t0016g0107	25	244	0.1025	853	c.367 others(870): Show c.367+1297_367+1298insTGGACATATTCACGCGTTTGTGTGATAC GGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTGTGTGAT ACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTG ATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGCGTTTGTG TGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACACGTTTG TGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATTCACGCG TGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCACGCG TTTGTGTGATATGGCCATATTCACGTGTTTGTGATACGGACATATTCACA CGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCA CACGTTTGTGATACGGACATATTCACACGTTTGTGTGATGCGGACATATT CATGCGTTTGTGATACGGACATATTCACGCGTTTGTGTGATACGGCCATA TTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTGTAGGACATA TTCACGTGTTTGTGTGTATGGACATATTCACGCGTTTGTGATACAGACAT TCACGCGTTTGTGTGTACAGACATATTCACGCATTTGTGTGATACAGATA TATTCACGCATTTGTGATACGGCCATATTCACACGTTTGTGATACGGACA TATTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGA CATATTCACACGTTTGTGTGATGCGGACATATTCACGCGTTTGTGTGATA CGGACATATTCACGCGTTTGTGATA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	475247	G G	GTACGGAC others(846): Show GTACGGACATATTCACGCGTTTGTGATATGGACATATTCACGCGTTTGTG TGATACGGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTG TGTGATACGGCCATATTCACGCGTTTGTGTGATATGGACATTCACGCGTT TGTGTGATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGCG TTTGTGTGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACA CGTTTGTGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATT CACGCGTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATT CACGCGTTTGTGTGATATGGCCATATTCACGTGTTTGTGATACGGACATA TTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACA TATTCACACGTTTGTGATACGGACATATTCACACGTTTGTGTGATGCGGA CATATTCATGCGTTTGTGATACGGACATATTCACGCGTTTGTGTGATACG GCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTGTAG GACATATTCACGTGTTTGTGTGTATGGACATATTCACACGTTTGTGATAC AGACATTCACGCGTTTGTGTGTACAGACATATTCACGCATTTGTGTGATA CAGATATATTCACGCATTTGTGATACGGCCATATTCACACGTTTGTGATA CGGACATATTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGA TACGGACATATTCACACGTTTGTGTGATGCGGACATATTCACGCGTTTGT GTGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	220	0.0045	853	c.367 others(870): Show c.367+1297_367+1298insTGGACATATTCACGCGTTTGTGTGATAC GGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTGTGTGAT ACGGCCATATTCACGCGTTTGTGTGATATGGACATTCACGCGTTTGTGTG ATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGCGTTTGTG TGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACACGTTTG TGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATTCACGCG TGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCACGCG TTTGTGTGATATGGCCATATTCACGTGTTTGTGATACGGACATATTCACA CGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCA CACGTTTGTGATACGGACATATTCACACGTTTGTGTGATGCGGACATATT CATGCGTTTGTGATACGGACATATTCACGCGTTTGTGTGATACGGCCATA TTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTGTAGGACATA TTCACGTGTTTGTGTGTATGGACATATTCACACGTTTGTGATACAGACAT TCACGCGTTTGTGTGTACAGACATATTCACGCATTTGTGTGATACAGATA TATTCACGCATTTGTGATACGGCCATATTCACACGTTTGTGATACGGACA TATTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGA CATATTCACACGTTTGTGTGATGCGGACATATTCACGCGTTTGTGTGATA CGGACATATTCACGCGTTTGTGATA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
RGS17_chr6_152999459_153136282	153108701	T T	TAGAAAAT others(846): Show TAGAAAATTCCCCTACATTCCGAAAGAAGTAGACATGGGAGACTTTTCAT TTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTG TGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTC AGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATG CTTGAAGGCAGCATGCTCGTAAGAGTCATCACCAATCCCTAATCTCAAGT AATCAGGGACACAAACACTGCGGAAGGCCGCGGGGTCCTCTGCCTAGGAA AACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTAT TGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTA TCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAAAAAAAAAGAATGG ACTTTCCCAGGCCAGCTGTGGTGGCTCACGACTGTAATCCCAGCACTGTG GCAGGCCAAGGTGGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCT GACCAACACGGAGAAACCCCGTCTCTACTAAAAATAAAAAAAATTAGCTG GGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTTGTGAGCTGAGATTGCA CCATTGCACTCCAGCCTGGGCAACAAGAGGGAAACTCCATCAAAAAAAAA AAAAAAAAAAGGACTTTCTCAAAGAAAATGTATTTAAATGTCTGCACCAA TAATTCCAGCATGTGTATGAATAAATATGATATGTCCTTTACAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG01070.hp2 others(11): Show HG00280.hp1 HG00639.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01167.hp2 HG01192.hp1 HG01258.hp1 HG01433.hp2 HG02698.hp1 HG03669.hp2 HG03704.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0002t0001	a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0168 others(11): Show a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0004g0098 a0001c0001t0005g0094 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0108 a0001c0001t0009g0093 a0001c0001t0009g0095 a0001c0001t0009g0096 a0001c0001t0009g0105 a0001c0002t0001g0100	14	212	0.0660	853	c.-26 others(872): Show c.-26+22422_-26+22423insTTTTTTTTTTTTGTAAAGGACATATC ATATTTATTCATACACATGCTGGAATTATTGGTGCAGACATTTAAATACA TTTTCTTTGAGAAAGTCCTTTTTTTTTTTTTTTTTTTGATGGAGTTTCCC TCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCACAACAAC CTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTTTTTATTTTTA GTAGAGACGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTTGAACTCCTGAT CTCAGGTGATCTGCCCACCTTGGCCTGCCACAGTGCTGGGATTACAGTCG TGAGCCACCACAGCTGGCCTGGGAAAGTCCATTCTTTTTTTTTTTTTTTT TTTTTTTTTAAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACA GAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAG ATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCCGCG GCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGA TGACTCTTACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATC TTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTC AGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGC AGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTAC TTCTTTCGGAATGTAGGGGAATTTTCT	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
RUFY4_chr2_218064253_218095584	218082955	C C	CTGTGTGT others(846): Show CTGTGTGTTGTGTATATGTTGTGTTGCGTTTTGTGTTGTATTGCATGTGT GTTGTGTATGTGTTGTGTGTGTATTGTGAGTGCATGTTATGCATGTGCAT TGTGTTGTGTGATTGTGATTGTGTGTGGTGTGTACGATGTGTTGTTATGT GTGCGTTATGAATGTAGGTAGTGTTGCGCTGTCTCTGTGTATGTTGTGTT GTATGTGTTGTACTGTGTGTTTTGTGTTGTGCACATATGTTGTGTTTTTG TGTTGTGTTATGTGTATGGGTTACATGTGTGTTGTGTATATATTGAGTTG TGTGTATGTGTTATGCTGTGTGTTGTGTATGTGTTGCGTTGTCTATATGT GTTGTGTGTGTGCCGTGTGTTGTATTGTGTGCGTTATAATATGTAGGGGG TGTTGTGTGCTGTGTGTTCTATTGTGTGTGTTATAATACGTAGGGGTTTT TGTGTTGTGTGTATTGTCTTGTGTGTATATGTTGTATGTGTTGTGTATAT GTGTTCTGCTGGGTGTTGTATCTGTTGTTATGTGTTGTATTGTGTGAGTG CATTGTGTGTGTTGTATTGTGTTTTGTGTTGTGTGTATGTGTTGTGTTTT GTGTGAATGTTGTTATGTGTATGGGTTACATTTGTGTTGTGTTGTGTATA TGTTGAGTTGTGTATGTGTTATATTGTGTGTGGTGTATGTGTTGTGTTGT ATGTGTTGTGTGTAGTATTGTGTGTGTTACAATGTGTGGGGAGTTGTGTG TGTTGTGTGTATTGTATATATATGTTCTGTTGGGTGTTATGTCTGTTGTG TTATATTGTATTATGTGTATGCATTTTGTGTGTGGTGTGGTGTGTGTTGT AGTG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04199.hp1 HG04115.hp2 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	2	174	0.0115	853	c.135 others(870): Show c.1356-148_1356-147insTGTGTATATGTTGTGTTGCGTTTTGTGT TGTATTGCATGTGTGTTGTGTATGTGTTGTGTGTGTATTGTGAGTGCATG TTATGCATGTGCATTGTGTTGTGTGATTGTGATTGTGTGTGGTGTGTACG ATGTGTTGTTATGTGTGCGTTATGAATGTAGGTAGTGTTGCGCTGTCTCT GTGTATGTTGTGTTGTATGTGTTGTACTGTGTGTTTTGTGTTGTGCACAT ATGTTGTGTTTTTGTGTTGTGTTATGTGTATGGGTTACATGTGTGTTGTG TATATATTGAGTTGTGTGTATGTGTTATGCTGTGTGTTGTGTATGTGTTG CGTTGTCTATATGTGTTGTGTGTGTGCCGTGTGTTGTATTGTGTGCGTTA TAATATGTAGGGGGTGTTGTGTGCTGTGTGTTCTATTGTGTGTGTTATAA TACGTAGGGGTTTTTGTGTTGTGTGTATTGTCTTGTGTGTATATGTTGTA TGTGTTGTGTATATGTGTTCTGCTGGGTGTTGTATCTGTTGTTATGTGTT GTATTGTGTGAGTGCATTGTGTGTGTTGTATTGTGTTTTGTGTTGTGTGT ATGTGTTGTGTTTTGTGTGAATGTTGTTATGTGTATGGGTTACATTTGTG TTGTGTTGTGTATATGTTGAGTTGTGTATGTGTTATATTGTGTGTGGTGT ATGTGTTGTGTTGTATGTGTTGTGTGTAGTATTGTGTGTGTTACAATGTG TGGGGAGTTGTGTGTGTTGTGTGTATTGTATATATATGTTCTGTTGGGTG TTATGTCTGTTGTGTTATATTGTATTATGTGTATGCATTTTGTGTGTGGT GTGGTGTGTGTTGTAGTGTGTGTGT	RUFY4	ENSG00000188282.13	transcript	ENST00000697321.1	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(846): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGG AGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAAC AGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAG GAGGAACAGGAGGAGGAGGAGGAACAGGTGCTAGGACACTGTGGGGACGT CCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGA GAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGG AGGAACAGGAGGAGGAGGAGGAGGAACAGGTGCTAAGACACTGTGGGGAC GTCCCAGATGCCAGGGGCAGTGGAGACAGCAGGAGGAGGAGGAAGAGGAG GAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGA GGAGGAATAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGCAGGAGGAGGA GGCACAGGAGGAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAAGCACAGG AGGA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0001 a0011c0019t0001	a0011c0019t0001g0034 a0011c0019t0001g0034	1	2	0.5000	853	c.-12 others(872): Show c.-127+9348_-127+9349insTCCTCCTGTGCTTCCTCCTCCTCCTC CTGTGCCTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTC CTCCTCCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTGC TGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGCACC TGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTC CTCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCT CCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCA CCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTC CTCCTCCTCCTCCTGTTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTT CCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCC TCGTCCTCCTGTTCTTCCTCTTCCTCCTCCTCCTCCTGTTCTTCCTCCTC CTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTCTCC ACTGCCCCGGCATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTTCTC CTCCTCCTCCTCCTCCTGCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(846): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGG AGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAACAGGTGCTAGGACACTGTGGGGACGTCCCAGATGCCAGGGG CAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGG AGGAGGAGGAGGAGGAACAGGTGCTAAGACACTGTGGGGACGTCCCAGAT GCCAGGGGCAGTGGAGACAGCAGGAGGAGGAGGAAGAGGAGGAGAAGGAG GAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAATA GGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAGGAAC AGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGC ACAGGAGGAGGAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAGGCACAGG AGGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0104 a0001c0011t0001g0104	1	2	0.5000	853	c.-12 others(872): Show c.-127+9348_-127+9349insTCCTCCTGTGCCTCCTCCTCCTCCTC CTGTGCCTCCTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTGCTGTTCCT CCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTC CTCCTGTTCCTCCTCCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTT CCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCC TCCTCCTGCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGT CTTAGCACCTGTTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTC CTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCT CTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCC CACAGTGTCCTAGCACCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCC TCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTC CTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTT CCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCC TCGTCCTCCTGTTCTTCCTCTTCCTCCTCCTCCTCCTGTTCTTCCTCCTC CTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTCTCC ACTGCCCCGGCATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTTCTC CTCCTCCTCCTCCTCCTGCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(846): Show GAGGGAGGCAGGGAGAGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGA GGGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGA GAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGA GGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGG GAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGG GAGAGGGAGGGTGGGAGGGAGAGGGAGGCAGGGAGAGGGAGGCAGGGAGA CAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGG GAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGG GAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGA GGGAGGGAGGGGGAGGGAGGCAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGA GAGGGAGGGAGAGGGAGGCAGGGAGAGAGGGAGGGAGAGGGAGGCAGGGA GGGAGAGGGACGCAGGGGGAGAGGTAGGGAGGGAGAGAGGGAGGGAGGGA GAGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03209.hp1 HG01109.hp2 HG03209.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0091 a0001c0013t0001g0094 a0001c0013t0001g0091 a0001c0013t0001g0094	2	3	0.6667	853	c.227 others(872): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCC TCTCCCTGCCTCCCTCCCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCC TCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTC CCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTGCCTCCCTGTCTCCCTGCC TCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTG CCTCCCTCTCCCTCCCACCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCC TCTCCCTCCCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCCCTCCC TCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTC CCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCC TCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTC CCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTC TCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCC TCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTC CCTCTCCCTCGCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCC TCCCTCTCCCTCTCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(846): Show ATATCATATTTTATATTATAATATATAACATATATTATATTATAATATAT AACATATATTATATATTATAATATATAACATATATTATATATTATAATAT ATAACATATATTATATATTATAATATATAACATATATTATATATTATAAT ATATAACATATATTATATATTATAATATATAATATATATTATATTTTATA ATATATAATATATATTATATTTTATAATATATAATATATTATATTTTATA ATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAAT ATATAATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT TATATATTATATTTTATAATATATAATATATTTTATAATATATAATATAT TTTATAATATATATTATATTTTATAATATATATTATATTTTATAATATAT ATTATATTTTATAATATATATTATATTTTATAATATATATTATATTTTAT AATATATATTATATTTTATAATATATATTATATTTTATAATATATATTAT ATTTTATAATATATATTATATTTTATAATATATATTATATTTTATAATAT ATATTATATTTTATAATATATATTATATTTTATAATATATATTATATTTT ATAATATATATTATATTTTATAATATATATTATATTTTATAATATATATT ATATTTTATAATATATATTATATTTTATAATATATATTATATTTTATAAT ATATATTATATATTATAATATATAATATATCTTATATTTTATAATATATA ATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0155 a0001c0001t0004g0155	1	161	0.0062	853	c.17 others(872): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAAGAT ATATTATATATTATAATATATAATATATATTATAAAATATAATATATATT ATAAAATATAATATATATTATAAAATATAATATATATTATAAAATATAAT ATATATTATAAAATATAATATATATTATAAAATATAATATATATTATAAA ATATAATATATATTATAAAATATAATATATATTATAAAATATAATATATA TTATAAAATATAATATATATTATAAAATATAATATATATTATAAAATATA ATATATATTATAAAATATAATATATATTATAAAATATAATATATATTATA AAATATAATATATATTATAAAATATAATATATATTATAAAATATAATATA TATTATAAAATATAATATATATTATAAAATATATTATATATTATAAAATA TATTATATATTATAAAATATAATATATAATATATTATAAAATATAATATA TTATATATTATAAAATATAATATATTATATATTATAAAATATAATATATT ATATATTATAAAATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT ATTATAAAATATAATATATATTATATATTATAAAATATAATATATATTAT ATATTATAATATATAATATATGTTATATATTATAATATATAATATATGTT ATATATTATAATATATAATATATGTTATATATTATAATATATAATATATG TTATATATTATAATATATAATATATGTTATATATTATAATATAATATATG TTATATATTATAATATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMYD3_chr1_245744347_246512279	246071781	C C	CTGTAGTT others(846): Show CTGTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCGC TGCATCGTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCA CTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACT GTGCTCACCGTGGATGCATCGTGTAGTTCTGGGGAGGGATTCGTGTGCTT TCCGCTGTGCTCACTGTGGATGCATCGTGTTAGTTCTGGGGAGGGATTCG TGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAG GGATTCGTGTGCTTTCCACTGTGCTCACTGTCGCTGCATCGTGTTAGTTC TGGGGAGGGATTCGTGTGCTTTCCGCTGTGCTCACTGTGGATGCTTCCTG TTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATG CTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACT GTCGCTGCATCGTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGT GCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTT CCACTGTGCTCACTGTCGCTGCATCGTGTTAGTTCTGGGGAGGGATTCGT GTGCTTTCCGCTGTGCTCACTGTGGATGCATCCTGTTAGTTCTGGGGAGG GATTCGTGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCT GGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGT TAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCGCTGC ATCG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0134 a0002c0004t0001g0134	1	139	0.0072	853	c.532 others(874): Show c.532-141845_532-141844insCGATGCAGCGACAGTGAGCACAGT GGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGA GCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCC ACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGA TGCATCCACAGTGAGCACAGCGGAAAGCACACGAATCCCTCCCCAGAACT AACACGATGCAGCGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCC CAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACACGAAT CCCTCCCCAGAACTAACACGATGCAGCGACAGTGAGCACAGTGGAAAGCA CACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTG GAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAG CACAGCGGAAAGCACACGAATCCCTCCCCAGAACTAACACGATGCAGCGA CAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAA GCATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTA ACACGATGCATCCACAGTGAGCACAGCGGAAAGCACACGAATCCCTCCCC AGAACTACACGATGCATCCACGGTGAGCACAGTGGAAAGCACACGAATCC CTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACA CGAATCCCTCCCCAGAACTAACACGATGCAGCGACAGTGAGCACAGTGGA AAGCACACGAATCCCTCCCCAGAACTACA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(846): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCC AGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCC CAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTG CCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGG CCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTG CCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG06807.hp2 HG03540.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0137 a0001c0001t0001g0140	2	81	0.0247	853	c.64 others(864): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAA CTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCC CCGCTGGGCCCCCCCCCAGGCAACTCCACCCCTGCTGGGCCCCCCCCCAC AGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCG CTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGG CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCC CAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGC TGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCA ACCCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGG CCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(846): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAG GAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGA GGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGA GGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGG GGGA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	3	0.3333	853	c.597 others(870): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTC CTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCC TCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTC CTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCC TCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTTC CTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCT CCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTTCC TCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTC CTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
THEG_chr19_356747_381026	376746	G G	GCCCCCAC others(846): Show GCCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCT GTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCCCCGTGCCTCCACCCAGCCTCTCCCCCTGTGTGCCCCCACCCAGCC TCTCCCCCTGTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCGTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCGTGTGCCC CACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTGTGTGCC CCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGC CCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGT GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCGTG TGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTG TGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	315	0.0032	853	c.-77 others(862): Show c.-777_-776insGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGG GAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGG GAGAGGCTGGGTGGGGCACACGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG GGGGGAGAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTGGGGCACA GGGGGGAGAGGCTGGGTGGGGCACACGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGC ACACGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGG GCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTG GGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGT GGGGCACACAGGGGGAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGCTG GGTGGAGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAG GCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTGGAGGCACGGGGGGG GAGAGGCTGGGTGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		721		chr19	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATAAAAAT others(846): Show ATAAAAATATATATCATATATATTTATATATTGTATAAAAATATATATCA TATATATTTATATATTGTATAAAAATATATATATCATATATATTTATATA TTATATAAAAATATATATATCATATATATTTATATATTATATAAAAATAT ATATATCATATATATTTATATATTATATAAAAATATATATATCATATATA TTTATATATTATATATTATATATTTATATTTTATTTTTATATTTATATTA TATATATATTTTTATATTTATATTTATATATTATTATATTATATTTATAT ATTATATAAAAATATATATCATATATATTTATATATTATATAAAAATATA TATCATATATATTTATATATTATATAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0009 a0002c0005t0009	a0002c0005t0009g0008 a0002c0005t0009g0008	1	58	0.0172	853	c.143 others(874): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTTATATATTGTATAAAAATATATATATCATATATATTTATATATTATAT AAAAATATATATATCATATATATTTATATATTATATAAAAATATATATAT CATATATATTTATATATTATATAAAAATATATATATCATATATATTTATA TATTATATATTATATATTTATATTTTATTTTTATATTTATATTATATATA TATTTTTATATTTATATTTATATATTATTATATTATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCAT ATATATTTATATATTATATAAAAATATATATCATATATATTTATATATTA AAAATATATATCATATATATTTATATATTAAAAATATATATCATATATAT TTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATA TCATATATATTTATATATTAAAAATATATATCATATATATTTATATATTA AAAATATATATCATATATATTTATATATTAAAAATATATATCATATATAT TTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATA TCATATATATTTATATATTAAAAATATATATCATATATATTTATATATTA AAAATATATATCATATATATTTATATATTAAAAATATATATCATATATAT TTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATA TCATATATATTTATATATTAAAAATATATATCATATATATTTATATATTA AAAATATATATCATATATATTTATATATT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TRIML1_chr4_188134441_188152743	188152718	G G	GGGTGAGA others(846): Show GGGTGAGAGGGAGTGAGAGTGGGGGTGAGGGGAGTGAGAGTGGGGGTGAG AAGGGGAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGGGGGTGAGA AGGGGAGTGAGAGTGGGGTGAGAGGGGGTGTGAGTGGGGGTGAGAAGGGG TGGTGTGGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGATGT GAGAGTGGGGGGTGAGAAGGGAGTGTGAGTGGGGGTGAGAAGGGGTGTGT GTGTGGGGGGGTGTGAAGGGGAGTGTGAGAGGGGGTGTGAGGGATGTGAG AGTGGGGGTGAGGGGGTGTGAGAGGGGGTGAGTTGGGGAGTGTGAGGGGG GTTGAGATGGGGTGTGAGAGTGGGGGGTGGAAGGGGGTGAGAGTGGGGGT GAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGTGTG AGAGGGGGTGTGAGTGTGGGGGTGAGGGGTGTGTGTGGGGGGTGTGAAGG GGGTGAGAGAGAGGGTGGAGGGAGTGAGAGTGGGGGTGAGAAGGGGTGTG AGAGTGGGGTGAGAAGGGGGTGTGGGTGGGGTGAGAGGGGTGTGAGGTGG GGGTGAGAAGGGGAGTGAGAGTGGGGTGTGGGAGGGGAGTGAGGTGGGGT GAGAGGGGGTGAGTGGGGTGAGGGGGGGTGTGGGGGTGAGAAGGGGAGTG AGAGTGGGGGTGAGGAAGGGAAGTGAGAGTGGGGTTGAGAAGGGGAGTGG AGTGGGGGTGAGAAGGGGAGTGAGTGTGGGGTGAGAAGGGGAGTGAGAGT GGGGGGTGAGAAGGGGAAGTGAGAGTGGGGGGTTGAGAAGGGGAGTGAGA GAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0013 a0003c0005t0002g0013	1	223	0.0045	853	c.53 others(864): Show c.5346_*5347insGGTGAGAGGGAGTGAGAGTGGGGGTGAGGGGAGT GAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTTGAGAAGGGGAGTG AGAGAGGGGGTGAGAAGGGGAGTGAGAGTGGGGTGAGAGGGGGTGTGAGT GGGGGTGAGAAGGGGTGGTGTGGGGGGTGAGAAGGGGAGTGAGAGTGGGG GTGAGAAGGGGATGTGAGAGTGGGGGGTGAGAAGGGAGTGTGAGTGGGGG TGAGAAGGGGTGTGTGTGTGGGGGGGTGTGAAGGGGAGTGTGAGAGGGGG TGTGAGGGATGTGAGAGTGGGGGTGAGGGGGTGTGAGAGGGGGTGAGTTG GGGAGTGTGAGGGGGGTTGAGATGGGGTGTGAGAGTGGGGGGTGGAAGGG GGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAG TGAGAGTGGGGTGTGAGAGGGGGTGTGAGTGTGGGGGTGAGGGGTGTGTG TGGGGGGTGTGAAGGGGGTGAGAGAGAGGGTGGAGGGAGTGAGAGTGGGG GTGAGAAGGGGTGTGAGAGTGGGGTGAGAAGGGGGTGTGGGTGGGGTGAG AGGGGTGTGAGGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGTGTGGGAGG GGAGTGAGGTGGGGTGAGAGGGGGTGAGTGGGGTGAGGGGGGGTGTGGGG GTGAGAAGGGGAGTGAGAGTGGGGGTGAGGAAGGGAAGTGAGAGTGGGGT TGAGAAGGGGAGTGGAGTGGGGGTGAGAAGGGGAGTGAGTGTGGGGTGAG AAGGGGAGTGAGAGTGGGGGGTGAGAAGGGGAAGTGAGAGTGGGGGGTTG AGAAGGGGAGTGAGAGAGA	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4976		chr4	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(846): Show TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATAATTATATATAATAATATAATATATATTATTATAT ATAATTATATATAATAATATAATATATATTATTATATATAATTATATATA ATAATATATATTATATTATTATATATAATTATATATAATAATATATATTA TATTATTATATATAATTATATATAATAATATAATATATATTATTATATAT TATTATATATAATAATATAATATATATTATTATATATAATTATATATAAT AATATAATATATATTATTATATATAATTATATATAATAATATAATATATA TTATTATATATAATTATATATAATAATATAATATATATTATTATATATAA TAATAATATATATATATTATTATATATAATTATATATAATAATATAATAT ATATTATTATATATAATTATATATAATAATATAAATATATTATTATATAT TATTATATATAATAATATAATATATATTATATATTATTATATATAATAAT ATAATATATATTATATATTATTATATATAATAATATAATATATATTATTA TATATTATTATATATAATAATATAATATATATTATTATATATAATAATAT AATATATATTATTATATATTATTATATATAATAATATAATATATATTATT ATATATAATAATATAATATATATTATTATATATTATTATATATAATAATA TAATATATATTATTATATATAATAATATAATATATATTATTATATATTAT TATATATAATAATATAATATATATTATTATATATTATTATATATAATAAT ATAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03831.hp2 HG03491.hp1 HG03492.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0030 a0001c0001t0001g0003 a0001c0001t0001g0030	3	85	0.0353	853	c.392 others(870): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATATATTATATTATTATATATAATAATATATA ATAATATATATTATATTATTATATATAATAATATATATTATATTATTATA TATAATAATATATAATAATATATATTATATTATTATATATAATAATATAT ATTATATTATTATATATAATAATATATAATAATATATATTATATTATTAT ATATAATAATATATAATATATATTATATTATTATATATAATAATATATAA TATATATTATATTATTATATATAATAATATATAATAATATATTTATATTA TTATATATAATTATATATAATAATATATATTATATTATTATATATAATTA TATATAATAATATATATATATTATTATTATATATAATAATATATATTATA TTATTATATATAATTATATATAATAATATATATTATATTATTATATATAA TTATATATAATAATATATATTATATTATTATATATAATTATATATAATAA TATATATTATATTATTATATATAATAATATATAATAATATATATTATATT ATTATATATAATTATATATAATAATATAATATATATTATTATATATAATT ATATATAATAATATAATATATATTATTATATATAATTATATATAATAATA TATATTATATTATTATATATAATTATATATAATAATATATATTATATTAT TATATATAATTATATATAATAATATATATTATATTATTATATATAATAAT ATATAATAATATATATTATATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(846): Show TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATAATTATATATAATAATATAATATATATTATTATAT ATTATTATATATAATAATATAATATATATTATTATATATTATTATATATA ATAATATATATTATATTATTATATATAATTATATATAATAATATATATTA TATTATTATATATAATTATATATAATAATATATATTATATTATTATATAT AATTATATATAATAATATAATATATATTATTATATATTATTATATATAAT AATATAATATATATTATTATATATAATTATATATAATAATATAATATATA TTATTATATATAATTATATATAATAATATAATATATATTATTATATATAA TAATAATATATATATATTATTATATATAATTATATATAATAATATAATAT ATATTATTATATATAATTATATATAATAATATAAATATATTATTATATAT TATTATATATAATAATATAATATATATTATATATTATTATATATAATAAT ATAATATATATTATATATTATTATATATAATAATATAATATATATTATTA TATATTATTATATATAATAATATAATATATATTATTATATATAATAATAT AATATATATTATTATATATTATTATATATAATAATATAATATATATTATT ATATATAATAATATAATATATATTATTATATATTATTATATATAATAATA TAATATATATTATTATATATAATAATATAATATATATTATTATATATTAT TATATATAATAATATAATATATATTATTATATATTATTATATATAATAAT ATAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	83	0.0120	853	c.392 others(870): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATATATTATATTATTATATATAATAATATATA ATAATATATATTATATTATTATATATAATAATATATATTATATTATTATA TATAATAATATATAATAATATATATTATATTATTATATATAATAATATAT ATTATATTATTATATATAATAATATATAATAATATATATTATATTATTAT ATATAATAATATATAATATATATTATATTATTATATATAATAATATATAA TATATATTATATTATTATATATAATAATATATAATAATATATTTATATTA TTATATATAATTATATATAATAATATATATTATATTATTATATATAATTA TATATAATAATATATATATATTATTATTATATATAATAATATATATTATA TTATTATATATAATTATATATAATAATATATATTATATTATTATATATAA TTATATATAATAATATATATTATATTATTATATATAATAATATATAATAA TATATATTATATTATTATATATAATTATATATAATAATATAATATATATT ATTATATATAATTATATATAATAATATAATATATATTATTATATATAATT ATATATAATAATATAATATATATTATTATATATAATAATATATAATAATA TATATTATATTATTATATATAATAATATATAATAATATATATTATATTAT TATATATAATTATATATAATAATATATATTATATTATTATATATAATAAT ATATAATAATATATATTATATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
ZNF236_chr18_76817557_76977901	76967266	T T	TATTTGGT others(846): Show TATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGT TGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATG TGATTCGTGAGATGTGTTATTGGGTTGTTGGAGGTGATGTGATTCGTGAG ATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTT GTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTGGTTGTTGGAGGTGG TGTGATCTGTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTGTGA GATTTCTGATTTGGTTGTTGGAGGTGGTGTGATCTGTAAGATTTCTGATT TGGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGACTTGGTTGTTGGAAG TGGTGTGATCTGTGACATTTGTGATTTGGTTGTTGGAGGTGGTGTGATCT GTGAGATTTGTGATTTAGTTGTTGGAGGTGATGTGATCTGTGAGGTTTGT GATTTGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGATTTTGTTGTTGG AGGTGGTGTGCTCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGT GATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGA GATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGA TTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTT GGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGT GGTGTGCTCTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTG TGAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19030.hp1 NA19030.hp2 HG03098.hp1 NA19030.hp1 NA19030.hp2	a0001 a0012 a0001 a0012	a0001c0002 a0001c0039 a0012c0026 a0001c0002 a0001c0039 a0012c0026	a0001c0002t0018 a0001c0039t0029 a0012c0026t0018 a0001c0002t0018 a0001c0039t0029 a0012c0026t0018	a0001c0002t0018g0137 a0001c0039t0029g0319 a0012c0026t0018g0157 a0001c0002t0018g0137 a0001c0039t0029g0319 a0012c0026t0018g0157	3	145	0.0207	853	c.542 others(870): Show c.5420-944_5420-943insGTTGTTGGAGGTGATGTGATTCGTGAGA TGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTG GTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTGGGTTGTTGGAGG TGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCT GTGACATTTGTGATTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATT TGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTTGTTGTTGGAG GTGGTGTGATCTGTGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGATC TGTAAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTG ACTTGGTTGTTGGAAGTGGTGTGATCTGTGACATTTGTGATTTGGTTGTT GGAGGTGGTGTGATCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGATGT GATCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGTTAT GTGATTTTGTTGTTGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTGGTG TTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTG GTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGA TCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGA TTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATT TGGTGTTGGAGGTGGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTGGAG GTGGTGGTGTGATCTGTGAGATTTG	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	30/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF236_chr18_76817557_76977901	76967266	T T	TATTTGGT others(846): Show TATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGT TGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATG TGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAG ATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTT GTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTGGTTGTTGGAGG TGGTGTGATCTGTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTG TGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGATCTGTAAGATTTCTG ATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGACTTGGTTGTTGG AAGTGGTGTGATCTGTGACATTTGTGATTTGGTTGTTGGAGGTGGTGTGA TCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGATGTGATCTGTGAGGTT TGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGATTTTGTTGT TGGAGGTGTGCTCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGT GATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGA GATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGA TTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTT GGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGT GGTGTGCTCTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTG TGAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0006 a0001c0016t0006	a0001c0016t0006g0163 a0001c0016t0006g0163	1	143	0.0070	853	c.542 others(870): Show c.5420-944_5420-943insGTTGTTGGAGGTGATGTGATTCGTGAGA TGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTG GTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGG TGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCT GTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTG ATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTTGTTGTTG GAGGTGGTGTGATCTGTGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTG ATCTGTAAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTAT GTGACTTGGTTGTTGGAAGTGGTGTGATCTGTGACATTTGTGATTTGGTT GTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGA TGTGATCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGT TATGTGATTTTGTTGTTGGAGGTGTGCTCTGTGAGATTTGTGATTTGGTG TTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTG GTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGA TCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGA TTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATT TGGTGTTGGAGGTGGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTGGAG GTGGTGGTGTGATCTGTGAGATTTG	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	30/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ABCB11_chr2_168915781_169036324	168975298	T T	TAGATAAA others(847): Show TAGATAAATATATAAATATTTATATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATATATAAATATATAAATATTTATATATTTATAGATAAATATA TATATATAAATATTTATATATTTATAGATAAATATATAAATATATAAATA TTTATATATTTATAGATAAATATATAAATATATAAATATTTATAGATAAA TATATAAATATATAAATATTTATATATTTATAGATAAATATATAAATATT TATATATTTATCGATAAATATATAAATATTTATATATTTATAGATAAATA TATAA	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0121 a0001c0002t0002g0121	1	201	0.0050	854	c.130 others(873): Show c.1308+1278_1308+1279insTTATATATTTATCTATAAATATATAA ATATTTATATATTTATCGATAAATATATAAATATTTATATATTTATCTAT AAATATATAAATATTTATATATTTATATATTTATCTATAAATATTTATAT ATTTATATATTTATCTATAAATATATAAATATTTATATATTTATATATTT ATCTATAAATATATAAATATTTATATATATATATTTATCTATAAATATAT AAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATATATTTATCTAT AAATATATAAATATTTATATATTTATCT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975298	T T	TAGATAAA others(847): Show TAGATAAATATATAAATATTTATATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATATATAAATATATAAATATTTATATATTTATAGATAAATATA TATATATAAATATTTATATATTTATAGATAAATATATAAATATATAAATA TTTATATATTTATAGATAAATATATAAATATATAAATATTTATAGATAAA TATATAAATATATAAATATTTATATATTTATAGATAAATATATAAATATT TATATATTTATCTATAAATATATAAATATTTATATATTTATAGATAAATA TATAA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	201	0.0050	854	c.130 others(873): Show c.1308+1278_1308+1279insTTATATATTTATCTATAAATATATAA ATATTTATATATTTATAGATAAATATATAAATATTTATATATTTATCTAT AAATATATAAATATTTATATATTTATATATTTATCTATAAATATTTATAT ATTTATATATTTATCTATAAATATATAAATATTTATATATTTATATATTT ATCTATAAATATATAAATATTTATATATATATATTTATCTATAAATATAT AAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATATAAATATTTATATATTTATCT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975298	T T	TAGATAAA others(847): Show TAGATAAATATATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATATATAAATATATAAATATTTATATATTTATAGATAAATATA TATATATAAATATTTATATATTTATAGATAAATATATAAATATATAAATA TTTATATATTTATAGATAAATATATAAATATATAAATATTTATAGATAAA TATATAAATATATAAATATTTATATATTTATAGATAAATATATAAATATT TATATATTTATCTATAAATATATAAATATTTATATATTTATAGATAAATA TATAA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA19070.hp1 NA18994.hp2 NA19070.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0040 a0001c0001 a0016c0040	a0001c0001t0001 a0016c0040t0001 a0001c0001t0001 a0016c0040t0001	a0001c0001t0001g0240 a0016c0040t0001g0258 a0001c0001t0001g0240 a0016c0040t0001g0258	2	202	0.0099	854	c.130 others(873): Show c.1308+1278_1308+1279insTTATATATTTATCTATAAATATATAA ATATTTATATATTTATAGATAAATATATAAATATTTATATATTTATCTAT AAATATATAAATATTTATATATTTATATATTTATCTATAAATATTTATAT ATTTATATATTTATCTATAAATATATAAATATTTATATATTTATATATTT ATCTATAAATATATAAATATTTATATATATATATTTATCTATAAATATAT AAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATATATTTATCT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975298	T T	TAGATAAA others(847): Show TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATATATAAATATATAAATATTTATATATTTATAGATAAATATA TATATATAAATATTTATATATTTATAGATAAATATATAAATATATAAATA TTTATATATTTATAGATAAATATATAAATATATAAATATTTATAGATAAA TATATAAATATATAAATATTTATATATTTATAGATAAATATATAAATATT TATATATTTATCTATAAATATATAAATATTTATATATTTATAGATAAATA TATAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0127 a0001c0001t0013g0127	1	201	0.0050	854	c.130 others(873): Show c.1308+1278_1308+1279insTTATATATTTATCTATAAATATATAA ATATTTATATATTTATAGATAAATATATAAATATTTATATATTTATCTAT AAATATATAAATATTTATATATTTATATATTTATCTATAAATATTTATAT ATTTATATATTTATCTATAAATATATAAATATTTATATATTTATATATTT ATCTATAAATATATAAATATTTATATATATATATTTATCTATAAATATAT AAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATAC ATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAA ATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTAT AAATATAAAAATATTTATACATTTATCT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ANKRD11_chr16_89262630_89495561	89398192	A A	ACTGTGAA others(847): Show ACTGTGAAACAGGTGAAGATTACCTGTGACCTCAGCACTCTGGGAGGCTG ACATGAGGGACGCTGTGAAACAGATGAAGATTACCTGTGATCTCAGTGCT CTGGGAGGCTGACATGAGGGACGCTGTGAAACAGGTGAAGATTACCTGTG ACCTCAGCACTCTGGGAGGCTGACATGAGGGACACTGTGAAACAGGTGAA GATTACCTGTGACCTCAGCACTCTGGGAGGCTGACATGAGGGACGCTGTG AAACAGATGAAGATTACCTGTGATCTCAGTGCTCTGGGAGGCTGACATGA GGGACACTGTGAAACAGCTGAAGATTACCTGTGACCTCAGCACTCTGGGA GGCTGACATGAGGGACACTGTGAAACAGGTGAAGATTACCTGTGACCTCA GCACTCTGGGAGGCTGACATGAGGGACGCTGTGAAACAGATGAAGATTAC CTGTGACCTCAGCACTCTGGGAGGCTGACATGAGGGACACTGTGAAACAG GTGAAGATTACCTGTGACCTCAGCACTCTGGGAGGCTGACATGAGGGACA CTGTGAAACAGGTGAAGATTACCTGTAACCTCAGCGCTCTGGGAGGCTGA CATGAGGGACGCTGTGAAACAGATGAAGATTACCTGTGATCTCAGCACTC TGGGAGGCTGACATGAGGGACACTGTGAAACAGGTGAAGATTACCTGTGA CCTCAGCACTCTGGGAGGCTGACATGAGGGACGCTGTGAAACAGGTGAAG ATTACCTGTGACCTCAGCACTCTGGGAGGCTGACATGAGGGACGCTGTGA AACAGATGAAGATTACCTGTGACCTCAGCACTCTGGGAGGCTGACATGAG GGACG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0200 a0001c0006t0001g0200	1	308	0.0032	854	c.-60 others(873): Show c.-60+20091_-60+20092insCGTCCCTCATGTCAGCCTCCCAGAGT GCTGAGGTCACAGGTAATCTTCATCTGTTTCACAGCGTCCCTCATGTCAG CCTCCCAGAGTGCTGAGGTCACAGGTAATCTTCACCTGTTTCACAGCGTC CCTCATGTCAGCCTCCCAGAGTGCTGAGGTCACAGGTAATCTTCACCTGT TTCACAGTGTCCCTCATGTCAGCCTCCCAGAGTGCTGAGATCACAGGTAA TCTTCATCTGTTTCACAGCGTCCCTCATGTCAGCCTCCCAGAGCGCTGAG GTTACAGGTAATCTTCACCTGTTTCACAGTGTCCCTCATGTCAGCCTCCC AGAGTGCTGAGGTCACAGGTAATCTTCACCTGTTTCACAGTGTCCCTCAT GTCAGCCTCCCAGAGTGCTGAGGTCACAGGTAATCTTCATCTGTTTCACA GCGTCCCTCATGTCAGCCTCCCAGAGTGCTGAGGTCACAGGTAATCTTCA CCTGTTTCACAGTGTCCCTCATGTCAGCCTCCCAGAGTGCTGAGGTCACA GGTAATCTTCAGCTGTTTCACAGTGTCCCTCATGTCAGCCTCCCAGAGCA CTGAGATCACAGGTAATCTTCATCTGTTTCACAGCGTCCCTCATGTCAGC CTCCCAGAGTGCTGAGGTCACAGGTAATCTTCACCTGTTTCACAGTGTCC CTCATGTCAGCCTCCCAGAGTGCTGAGGTCACAGGTAATCTTCACCTGTT TCACAGCGTCCCTCATGTCAGCCTCCCAGAGCACTGAGATCACAGGTAAT CTTCATCTGTTTCACAGCGTCCCTCATGTCAGCCTCCCAGAGTGCTGAGG TCACAGGTAATCTTCACCTGTTTCACAG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(847): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGAAAGAGGGGGGAGGGGG AAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGAAGG GGAGGAGGAAGGGGAGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGAGGA AGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAA GGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAG GAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGG GGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGG GAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAA GGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGG GGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGAAGACGGAG AGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGA AGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAA GGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGG GGAAGGGGCAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGG AAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGG GGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	8	0.1250	854	c.-70 others(863): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGAAAG AGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAG GGGGAGGGGAAGGGGAGGAGGAAGGGGAGAAGGAGGAGGAGGAAGTGGGG AAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGG AGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGG GGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAG GGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGG GGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGA AGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAA GGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAG GAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGA AGGGAAGACGGAGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGA AGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAA GGAGGAGGAGGAAGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGA GGAGGAGGAAGGGGGAAGGGGCAGTGGGAGGAGGAAGGGGAAGAAGGAGG AGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGG GAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
C2CD4C_chr19_400445_414147	404604	A A	AGGGGGGG others(847): Show AGGGGGGGGACGGGGCCCTGTCCTGAGGGGTCTGAGGGGGGGACGGGGCC CTGTCCTGAGGGGTGTGAGGGGGAGACGGGTCCTGCCCCGAGGGGTGTGA GGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGCCCTGT CCTGAGGGGTGTGAGGGGGGGGGACGGGGCCCTGTCCTGAGGGGTCTGAG GGGGGGACGGGGCCCTGTCCTGAGGGGTGTGAGGGGGGGACGGGTCCTGC CCCGAGGGGTGTGAGGGGGGGGACGGGGCCCTGTCCTGAGGGGTCTGAGG GGGGGACGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGGTCCTGCC CCGAGGGGTGTGAGGGGGGGGGACGGGGCCCTGTCCTGAGGGGTCTGAGG GGGGGACGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGGTCCTGCC CCGAGGGGTGTGAGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGG GGGGGACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGGGACGGGTCCTGCC CCGAGGGGTGTGGGGGGGGGACGGGGTCCTGTCCCGAGGGGTGTGGGGGG GGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCC TGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGA ACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGACGGGGTCCTGCCCTGA GGGGTGTGGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGAACGG GGTCCTGCCCTGAGGGGTGTGGGGGGGGACGGGGTCCTGCCCCGAGGGGT GTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0127 a0001c0001t0127	a0001c0001t0127g0101 a0001c0001t0127g0101	1	243	0.0041	854	c.24 others(865): Show c.2491_*2492insCTCACACCCCTCGGGGCAGGACCCCGTCCCCCCC CACACCCCTCAGGGCAGGACCCCGTTCCCCCCACACCCCTCAGGGCAGGA CCCCGTTCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCTCCACA CCCCTCAGGGCAGGACCCCGTTCCCCCCTCACACCCCTCAGGGCAGGACC CCGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCCCACACCC CTCAGGGCAGGACCCCGTCCCCCCCCCACACCCCTCGGGACAGGACCCCG TCCCCCCCCCACACCCCTCGGGGCAGGACCCGTCCCCCCCTCAGACCCCT CAGGGCAGGACCCCGTCCCCCCCCTCACACCCCTCAGGGCAGGACCCCGT CCCCCCCCTCACACCCCTCGGGGCAGGACCCCGTCCCCCCCTCACACCCC TCGGGGCAGGACCCGTCCCCCCCTCAGACCCCTCAGGACAGGGCCCCGTC CCCCCCCCTCACACCCCTCGGGGCAGGACCCCGTCCCCCCCTCACACCCC TCGGGGCAGGACCCGTCCCCCCCTCAGACCCCTCAGGACAGGGCCCCGTC CCCCCCCTCACACCCCTCGGGGCAGGACCCGTCCCCCCCTCACACCCCTC AGGACAGGGCCCCGTCCCCCCCTCAGACCCCTCAGGACAGGGCCCCGTCC CCCCCCCTCACACCCCTCAGGACAGGGCCCCGTCCCCCCCACACCCCTCA GGGCAGGACCCCGTCCCCCCCTCACACCCCTCGGGGCAGGACCCGTCTCC CCCTCACACCCCTCAGGACAGGGCCCCGTCCCCCCCTCAGACCCCTCAGG ACAGGGCCCCGTCCCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		840		chr19	TogoVar
CAPN11_chr6_44153820_44189401	44182041	C C	CCACACTC others(847): Show CCACACTCACACACACATACACACTCACATACAGACACAACCACACCACA CTCACACACACATACACACTCACATACAGACACAACCACACCACACTCAC ACACACATACACACTCACATACAGACACAACCACACCACACTCACACACA CACACACTCACATACAGACACAACCACACCACACACACACACACATACAG ACACAACCACACCACACACACACATACACACTCACATACAGACACAACCA CACCACACACACACACATACACACTCACATACAGACACAACCACACCACA CTCACACACACCCATACACACTCACATACAGACACAACCACACCACACAC ACACACACACATACAGACACAACCACACCACACACACACACACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACACACTCACAT ACAGACACAACCACACCACACTCACACACACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACACACACTCACATACAGACACAA CCACACCACACTCACACACACACTCACATACAGACACAACCACACCACAC TCACACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACATACACACTCACATACAGACACAACCACACCACACACACACATAC ACACTCACATACAGACACAACCACACCACACACACACACACACTCACATA CAGACACAACCACACCACACTCACACACACACACTCACATACAGACACAA CCACACCACACTCACACACACACACTCACATACAGACACAACCACACCAC ACACA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	301	0.0033	854	c.193 others(871): Show c.1938+726_1938+727insTCACACACACATACACACTCACATACAG ACACAACCACACCACACTCACACACACATACACACTCACATACAGACACA ACCACACCACACTCACACACACATACACACTCACATACAGACACAACCAC ACCACACTCACACACACACACACTCACATACAGACACAACCACACCACAC ACACACACACATACAGACACAACCACACCACACACACACATACACACTCA CATACAGACACAACCACACCACACACACACACATACACACTCACATACAG ACACAACCACACCACACTCACACACACCCATACACACTCACATACAGACA CAACCACACCACACACACACACACACATACAGACACAACCACACCACACA CACACACACACATACACACTCACATACAGACACAACCACACCACACTCAC ACACACACACTCACATACAGACACAACCACACCACACTCACACACACACA CACACTCACATACAGACACAACCACACCACACTCACACACACACACACAC TCACATACAGACACAACCACACCACACTCACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACACACTCACATACAGACACAACC ACACCACACTCACACACACACATACACACTCACATACAGACACAACCACA CCACACACACACATACACACTCACATACAGACACAACCACACCACACACA CACACACACTCACATACAGACACAACCACACCACACTCACACACACACAC TCACATACAGACACAACCACACCACACTCACACACACACACTCACATACA GACACAACCACACCACACACACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDH4_chr20_61247261_61945617	61331582	C C	CCCCAGGC others(847): Show CCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCTCAGATCTACCTCCTGC CCCGGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGCCCCAGA CCCACCTCCTGACCCGACCACCTCCCCCAGGCTCACCTCCTGCCCCGGCC ACCTGCCCTAGAGCCACCTCCTGCCCCGGCCACCTGCCTCAGGCCCACCT CCTGCCCCGGCCACCTGCCCCAGATCTACCTCCTGACCCGACCACCTCCC CCAGGCTCACCTCCTGCCCTGGCCACCTGCCCCAGACCCACCTCCTGCCC CGGCCACCTGCCCCAGAGCCACCTCCTGACCCGACCACCTCCCCCAGGCT CACCTCCTGCCCCGACCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCAC CTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCC TGCCCCAGACCCACCTCCTGCCTCAGCCACCTGCCCCAGACTCACCTCCT GCCCCGGCCACCTGCCCCAGAGCCACCTCCTGCCCCGGCCACCTACCCCA GACCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGG CCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCAC CTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTG CCCCAGGCCCACCTCCTGCCCCCGCCAACTGCCCCAGGTCTACCTCCTGC CCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGTCACCTGTCCCAGC CCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCA CCTGT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18952.hp2 NA18960.hp1 NA18960.hp2	a0002 a0004 a0002 a0004	a0002c0008 a0002c0015 a0004c0025 a0002c0008 a0002c0015 a0004c0025	a0002c0008t0024 a0002c0015t0007 a0004c0025t0001 a0002c0008t0024 a0002c0015t0007 a0004c0025t0001	a0002c0008t0024g0024 a0002c0015t0007g0025 a0004c0025t0001g0100 a0002c0008t0024g0024 a0002c0015t0007g0025 a0004c0025t0001g0100	3	55	0.0545	854	c.169 others(873): Show c.169+76677_169+76678insTCAGATCTACCTCCTGCCCCGGCCAC CTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGCCCCAGACCCACCTCC TGACCCGACCACCTCCCCCAGGCTCACCTCCTGCCCCGGCCACCTGCCCT AGAGCCACCTCCTGCCCCGGCCACCTGCCTCAGGCCCACCTCCTGCCCCG GCCACCTGCCCCAGATCTACCTCCTGACCCGACCACCTCCCCCAGGCTCA CCTCCTGCCCTGGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCT GCCCCAGAGCCACCTCCTGACCCGACCACCTCCCCCAGGCTCACCTCCTG CCCCGACCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAG GCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCAGA CCCACCTCCTGCCTCAGCCACCTGCCCCAGACTCACCTCCTGCCCCGGCC ACCTGCCCCAGAGCCACCTCCTGCCCCGGCCACCTACCCCAGACCCACCT CCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCC CCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCC CGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCC CACCTCCTGCCCCCGCCAACTGCCCCAGGTCTACCTCCTGCCCCGGCCAC CTGCCCCAGGCCCACCTCCTGCCCCGGTCACCTGTCCCAGCCCACCTCCT GCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGTCCCA GGCCCACCTCCTGCCCCGGCCACCTGCC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGTGG others(847): Show GGGAGTGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGG AGGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGAGCTGGGGAGG GGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGA GGAGGGGGAGCTGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAG GGGAGCAGGGGAGGGGGGAGGAGGGGAGCTGGGAGGGGGGAGAGGGGAGC TGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGAGCAGG GAGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGG GGGGAGGAGGGGGAGCAGGGGAGGGGAGGAGGGGGAGCAGGGGAGGGGGG AGGAGGGGAGCTGGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGAGGA GGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGGGGGGAGGAGGGGGAGCAG GGGAGGGGGGAGGAGGGGGAGCTGGGGAGGAGGAGGAGGGGAGCAGGGGA GGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGG GGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGG AGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGA GGGGGAGCTGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCA GGGGAGGGGGGAGGGAGGGGGAGCAGGGGAGGGGGGAGAAGAGGAGGGGG GAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0015 a0001c0001t0011g0015	1	11	0.0909	854	c.-26 others(863): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCCCTGCTCC CCCTCCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCC CCTCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCC CTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCT CCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCC CTGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCTCCTCCTCCTCCCCAGCT CCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCCTCCTC CCCCCTCCCCTGCTCCCCCTCCTCCCCTCCCCTGCTCCCCCTCCTCCCCC CTCCCCCAGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCTCC CCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCC TGCTCCCCTCCTCCCCCTCCCTGCTCCCCTCCTCCCCCCTCCCCAGCTCC CCCTCCTCCCCCCTCCCCAGCTCCCCTCTCCCCCCTCCCAGCTCCCCTCC TCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCC CCCTCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCC TCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTC CCCAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCTCCTCCCCCCTCCCCA GCTCCCCTCCTCCCCCCCTCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCT CCCCCTCCTCCCCACTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
COL18A1_chr21_45400165_45518720	45500731	G G	GGTGTGTG others(847): Show GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGG GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTCGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGATT GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTG TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTTTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02922.hp2 HG00733.hp2 HG02922.hp2	a0001 a0025 a0001 a0025	a0001c0044 a0025c0042 a0001c0044 a0025c0042	a0001c0044t0001 a0025c0042t0001 a0001c0044t0001 a0025c0042t0001	a0001c0044t0001g0002 a0025c0042t0001g0035 a0001c0044t0001g0002 a0025c0042t0001g0035	2	169	0.0118	854	c.268 others(873): Show c.2683+3076_2683+3077insGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTCGTTTGGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGGGTGTGGTTTGGTGTGT GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG GTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGATTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT GTTTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL21A1_chr6_56051590_56252580	56098108	T T	TATATAAA others(847): Show TATATAAATATATATAAATATATATAAATATATAAATATATATAAATATA TATAAATATAAAAATATATATAAATATATAAATATATATAAATATATATG TAAATATATAAATATATATAAATATATATGTAAATATATAAATATATATA AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTATAAATATATATGTAAATATATATAAATATAAATATATTTATAAATA TATAAATATAAATATATTTATAAATATATAAATATATATAAAAATATATA TAAATATATAAAAAAATATAAATATATATAAATATATAAATATATGTAAA TATATATAAATATATATATAAATATATATAAATATATATAAATATATATA AATATATAACTATACAAATAAATATATATAAATATATAAATATATAAAAA TATATATAAATATATATGTAAATATATAAATATATATATAAATATATATA AATATATATAAGTATATAAATATATATAAATATATATAAGTATATAAATA TATATATAAATATATATAAGTATATAAATATATATATAAATATATATAAG TATATAAATATATATAAATATATATAAGTATATAAATATATATATAAATA TATATAAGTATATATAAATATATATAAATATATATAAGTATATATAAATA TATATAAATATATATAAGTATATATAAATATATATAAATATATATAAGTA TATATAAATATATATAAATATATATAAGTATATATAAATATATATAAATA TATATAAATATATGCAAATATATATAAATATATATATAAATAGATATATA AATAG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0053 a0001c0002t0004g0053	1	196	0.0051	854	c.181 others(873): Show c.1812+3363_1812+3364insCTATTTATATATCTATTTATATATAT ATTTATATATATTTGCATATATTTATATATATTTATATATATTTATATAT ACTTATATATATTTATATATATTTATATATACTTATATATATTTATATAT ATTTATATATACTTATATATATTTATATATATTTATATATACTTATATAT ATTTATATATATTTATATATACTTATATATATTTATATATATATTTATAT ACTTATATATATTTATATATATTTATATACTTATATATATTTATATATAT ATTTATATACTTATATATATTTATATATATATTTATATACTTATATATAT TTATATATATTTATATACTTATATATATTTATATATATTTATATATATAT TTATATATTTACATATATATTTATATATATTTTTATATATTTATATATTT ATATATATTTATTTGTATAGTTATATATTTATATATATTTATATATATTT ATATATATTTATATATATATTTATATATATTTACATATATTTATATATTT ATATATATTTATATTTTTTTATATATTTATATATATTTTTATATATATTT ATATATTTATAAATATATTTATATTTATATATTTATAAATATATTTATAT TTATATATATTTACATATATATTTATAATTACATATTTATATATATATTT ATATTTATATATATTTATATATATTTATTTATATATATTTATATATTTAC ATATATATTTATATATATTTATATATTTACATATATATTTATATATATTT ATATATTTATATATATTTTTATATTTATATATATTTATATATATTTATAT ATTTATATATATTTATATATATTTATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(847): Show CAGTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGAT ATGGGGGTGGGGACAGGGTGCAGTTTATAGATGATATGGGGGTGGGGACA GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATA GATAATATGGGGGTGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCG GGGCGGGGGTGCAGTTGATAGATGATATGGGGGTGGGGACAGGGTGCAGT TTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGG TGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATA ATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGG GCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGTAGCTT ATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAATATGGAG GCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGGGGCGGGGGTGT AGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGATAA TATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATGGGGGGCGGG GTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGAGGGTGCAAT TTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATATGG GGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGTGGGGTAGGG GGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp1 HG02896.hp1 HG02622.hp1 HG02886.hp1 HG02896.hp1	a0001 a0001	a0001c0006 a0001c0018 a0001c0049 a0001c0006 a0001c0018 a0001c0049	a0001c0006t0004 a0001c0018t0008 a0001c0049t0003 a0001c0006t0004 a0001c0018t0008 a0001c0049t0003	a0001c0006t0004g0184 a0001c0018t0008g0182 a0001c0049t0003g0183 a0001c0006t0004g0184 a0001c0018t0008g0182 a0001c0049t0003g0183	3	15	0.2000	854	c.109 others(873): Show c.109+14824_109+14825insGATATGGGGGTGGGGAAGGGATGCAG TTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATGATATG GGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGG GTGCAGTTTATAGATAATATGGGGGTGGGGCGGGGGTGCAGTTTATAGAT AATATGGGGGCGGGGCGGGGGTGCAGTTGATAGATGATATGGGGGTGGGG ACAGGGTGCAGTTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTA TAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGG GCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCG GGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATA GATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCG GGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCA GTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAAT ATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGC AGAGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTG TAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGG GGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(847): Show CAGTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGAT ATGGGGGTGGGGACAGGGTGCAGTTTATAGATGATATGGGGGTGGGGACA GGGTGCAGTTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAG ATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCG GGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGT TGATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATGATATGG GGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGG TGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATA ATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGG GCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGTAGCTT ATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAATATGGAG GCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGGGGCGGGGGTGT AGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGATAA TATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATGGGGGGCGGG GTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGAGGGTGCAAT TTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATATGG GGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGTGGGGTAGGG GGTGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0002 a0001c0007t0006g0002	1	13	0.0769	854	c.109 others(873): Show c.109+14824_109+14825insGATATGGGGGTGGGGAAGGGATGCAG TTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATGATATG GGGGTGGGGACAGGGTGCAGTTTATAGATGATATGGGGGTGGGGACAGGG TGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGAT AATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGG CGGGGGTGCAGTTGATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTA TAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGG GCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCG GGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATA GATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCG GGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCA GTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAAT ATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGC AGAGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTG TAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGG GGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(847): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCACCAT CCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCAT CCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCACCAT CCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCCATGC ATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCTGTCC ATCCATCCGTCCATCCATCCACCATCCATTCACCCATCCATCCATTCATC CATCCATCCACCATCCATCCATTAATTCATCCATCCATCCATCCATTCAT CCACCATCCATCCACCATCCATCCATCCATCCATCCACCATCCATCCATC CACCATCCATCCATTCATCCATCCATCTGTCCATCCATCCATCCATCCGT CCATCCACCATCCATTCACCCATCCATCCATTCATCCATCCATCCACCAT CCATCCATTAATTCATCCATCCATCCATCCATCCATTCATCCATCCACCA TCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATACA TCCATCATCCTCCCATTCATCCATCCATCCACCATCCATCCATTCATTCA TCCATCCATCCATCCATCCACCCACCATCCATCCACCCATCCATCCACCA TCCATCCATCCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCC ATCCGTCCATCCATCCATCCATCCTCCATCCATCCATCCATCCATCAACC ATCCATCCATGCATCCATTCATCCATCCACCATCCATCCACCATCCATCC ACCAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03927.hp2 HG03688.hp1 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0003 a0001c0002t0001 a0001c0008t0003	a0001c0002t0001g0018 a0001c0008t0003g0017 a0001c0002t0001g0018 a0001c0008t0003g0017	2	4	0.5000	854	c.110 others(871): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCA TTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCC ATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATC CATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATC CATCTGTCCATCCATCCGTCCATCCATCCACCATCCATTCACCCATCCAT CCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCCA TCCATTCATCCACCATCCATCCACCATCCATCCATCCATCCATCCACCAT CCATCCATCCACCATCCATCCATTCATCCATCCATCTGTCCATCCATCCA TCCATCCGTCCATCCACCATCCATTCACCCATCCATCCATTCATCCATCC ATCCACCATCCATCCATTAATTCATCCATCCATCCATCCATCCATTCATC CATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCC ATTCATACATCCATCATCCTCCCATTCATCCATCCATCCACCATCCATCC ATTCATTCATCCATCCATCCATCCATCCACCCACCATCCATCCACCCATC CATCCACCATCCATCCATCCAGCATCCATCCATCCATCTATTCATCCATC CATCCATCCATCCGTCCATCCATCCATCCATCCTCCATCCATCCATCCAT CCATCAACCATCCATCCATGCATCCATTCATCCATCCACCATCCATCCAC CATCCATCCACCATCATCCATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(847): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCACCAT CCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCAT CCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCACCAT CCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCCATGC ATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCTGTCC ATCCATCCGTCCATCCATCCACCATCCATTCACCCATCCATCCATTCATC CATCCATCCACCATCCATCCATTAATTCATCCATCCATCCATCCATTCAT CCACCATCCATCCACCATCCATCCATCCATCCATCCACCATCCATCCATC CACCATCCATCCATTCATCCATCCATCTGTCCATCCATCCATCCATCCGT CCATCCACCATCCATTCACCCATCCATCCATTCATCCATCCATCCACCAT CCATCCATTAATTCATCCATCCATCCATCCATCCATTCATCCATCCACCA TCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATACA TCCATCATCCTCCCATTCATCCATCCATCCACCATCCATCCATTCATTCA TCCATCCATCCATCCATCCACCCACCATCCATCCACCCATCCATCCACCA TCCATCCATCCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCC ATCCGTCCATCCATCCATCCATCCTCCATCCATCCATCCATCCGTCAACC ATCCATCCATGCATCCATTCATCCATCCACCATCCATCCACCATCCATCC ACCAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0052 a0001c0015t0052	a0001c0015t0052g0016 a0001c0015t0052g0016	1	3	0.3333	854	c.110 others(871): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCA TTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCC ATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATC CATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATC CATCTGTCCATCCATCCGTCCATCCATCCACCATCCATTCACCCATCCAT CCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCCA TCCATTCATCCACCATCCATCCACCATCCATCCATCCATCCATCCACCAT CCATCCATCCACCATCCATCCATTCATCCATCCATCTGTCCATCCATCCA TCCATCCGTCCATCCACCATCCATTCACCCATCCATCCATTCATCCATCC ATCCACCATCCATCCATTAATTCATCCATCCATCCATCCATCCATTCATC CATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCC ATTCATACATCCATCATCCTCCCATTCATCCATCCATCCACCATCCATCC ATTCATTCATCCATCCATCCATCCATCCACCCACCATCCATCCACCCATC CATCCACCATCCATCCATCCAGCATCCATCCATCCATCTATTCATCCATC CATCCATCCATCCGTCCATCCATCCATCCATCCTCCATCCATCCATCCAT CCGTCAACCATCCATCCATGCATCCATTCATCCATCCACCATCCATCCAC CATCCATCCACCATCATCCATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(847): Show GCTATAACCACCACCACCACCACTATAACCATCACCACCATCACCACTAT AACCACCACTACCACCACCACCATTATAACCATCACCACCACCACTATAA CCACCATCATCATCACCACCACTACCACTACTTTAACCATTACCACCATT ACTACTATAACCACCACCACCACCACCACCACCACTATAATCATTACCAC TATAACCACCACTACCACCACCACCACCATTATAACCATCACCACCACCA CTATAACCACCATCATCATCACCACCACTACCACTACTATAACCATTACC ACCATCACTACTATAACCACCACCACCACCACCACCACCACTATAATCAT TACCACTATAACCACCACTACCACCACTACCACTACTATAACCATCACCA CCATCACTGCTATAATCACCACCACCACCACCACCACCACTATAATCATT ACCACTATAACCACCACTACCACCACCACCACTATGATAACCATCACCAA CACCACTATAACCACCAATGCCAAGAAGTGTTCATAGCAGGAGTCATAAA CACAGGACCAACCAGGGATAGGACCAACCAGGACCAACCAGGACCAACAC CACCACCACTACTACCACTACTATAACCATCACCACCATCACTGCTATAA TCACCACCACCACCACCATCACTATAATCATCACCACCATCACCACTATA ACCACCACCACCACCACCACCACCAGTTATAACCATCACCACCACCACTA TAACCACCATCATCATCACCACCACTACCACTACTATAACCATTACCACC ATTACTACTATAACCACCACCACCACCACCACTGTTATAACCATCACCAC CACTA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0204 a0001c0003t0008g0204	1	83	0.0120	854	c.724 others(873): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACAGTG GTGGTGGTGGTGGTGGTTATAGTAGTAATGGTGGTAATGGTTATAGTAGT GGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTA TAACTGGTGGTGGTGGTGGTGGTGGTGGTTATAGTGGTGATGGTGGTGAT GATTATAGTGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGA TGGTTATAGTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCT GGTTGGTCCTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAAC ACTTCTTGGCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTG GTGGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGT GGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATAGTAGTGG TAGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTG GTGGTGGTGGTGGTTATAGTAGTGATGGTGGTAATGGTTATAGTAGTGGT AGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAA TGGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTG GTGGTGGTGGTGGTGGTGGTTATAGTAGTAATGGTGGTAATGGTTAAAGT AGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGG TTATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATG GTTATAGTGGTGGTGGTGGTGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(847): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGAGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAA ACAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAA CAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTA ATTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAAT ATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGAT GTTTTACAACTTAAAAAAATATATCTGGCCGGGGCACCGTGGCTCATGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGG AGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	2	0.5000	854	c.-51 others(865): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGAGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAAGAAAATAATAATAATAAT AATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAA ACTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCA CTACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAAT CTCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGT AGTGGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACC ACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT GTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGAT TTCTTTTCTATAGATGTTTTACAACTTAAAAAAATATATCTGGCCGGGGC ACCGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTG GATCATGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(847): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGAGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCT TGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAAT TTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAG ATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGG AGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 NA18998.hp1 NA19076.hp2 HG02071.hp1 NA18998.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0076 a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0076	3	4	0.7500	854	c.-51 others(865): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGAGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGT GTAGTGGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTA CCACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAG ATTTCTTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGC ACCGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTG GATCATGAGGTCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DOCK8_chr9_209865_470255	320273	G G	GGACCGAA others(847): Show GGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTG GGCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATC AGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAG GTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGG AAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCG AACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCA AAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGAT GGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTG TGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAG CCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACT CACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCG GACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGG GCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCA GAGATGGCTGGGCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAGG TTCTGTGATCAGAGATGGCTGGGCTCAAAACCGGACCGAACACTCACGGA AAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGA ACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAA AACCT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0058 a0058	a0058c0056 a0058c0056	a0058c0056t0001 a0058c0056t0001	a0058c0056t0001g0182 a0058c0056t0001g0182	1	166	0.0060	854	c.827 others(871): Show c.827+3205_827+3206insGGACCGAACACTCACGGAAAAAGCCCAG GTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGG AAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCG AACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCA AAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGAT GGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTG TGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAG CCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACT CACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCT GACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGG GCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCA GAGATGGCTGGGCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAGG TTCTGTGATCAGAGATGGCTGGGCTCAAAACCGGACCGAACACTCACGGA AAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCGGACCGA ACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAA AACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATG GCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGT GATCAGAGATGGCTGGGCTCAAAACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89634690	T T	TCCCTTCC others(847): Show TCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCATTC CTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCCTTCC TTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTT CTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCT CTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCTCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	239	0.0042	854	c.105 others(871): Show c.105-1193_105-1192insTCCTTTCCCCTTCCTTCTCCTTTCCCTT CCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCATTCCTTC TCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCT CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCC TTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTC CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCTCTTC CTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCTCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCCTTCCTTCCCTTTCCCTTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
FAM120B_chr6_170301758_170412067	170377401	G G	GTGCACAC others(847): Show GTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAGGCTCACGC TGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACA CAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGC CCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTA AACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCAC ACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCG GTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCT CACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGA GAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCA GACGCCCGGGAGAACACAGGCTCAGGCTGCTCGGTGCTGTGCACACGCGT CCCTAATCCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTG TGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAGGCTCACGCT GCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAACAC AGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCC CGGGAGAGCACCGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAA ACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACA CGCGTCCCTAAACCCAGACGCCCGGGAGAGCACCGGCTCACGCTGCTCGG TGCTA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0074	1	266	0.0038	854	c.228 others(875): Show c.2284-10869_2284-10868insTCCCAGACGCCCGGGAGAACACAG GCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCG GGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATC CCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACG CGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTG CTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCAC GCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAA CACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGAC GCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCC TAAACCCAGACGCCCGGGAGAACACAGGCTCAGGCTGCTCGGTGCTGTGC ACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAGGCTCACGCTGCT CGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAGG CTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGG GAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCC CAGACGCCCGGGAGAGCACCGGCTCACGCTGCTCGGTGCTGTGCACACGC GTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGC TGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAGCACCGGCTCACG CTGCTCGGTGCTATGCACACGCGTCCCTAA	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170377914	C C	CGCCCGGG others(847): Show CGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCC CTAATCCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTG CACACGCGTCCCTAATCCCAGACGCCCGGGAGAGCACCGGCTCACGCTGC TCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAG GCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCG GGAGAGCACCGGCTCACGCTGCTCGGTGCTATGCACACGCGTCCCTAATC CCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACG CGTCCCTAATCCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTG CTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAGCACCGGCTCAC GCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAG CACCGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGAC GCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCC TAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGC ACACGCGTCCCTAAACCCAGACGCCTGGGAGAACACAGGCTCACGCTGCT CGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCTGGGAGAACACAGG CTCACGCTGCTCTCTGCTGTGCCCACGCGTCCCTAAACCCAGACGCCCGG GAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCC CAGAT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	152	0.0066	854	c.228 others(875): Show c.2284-10370_2284-10369insCGGGAGAACACAGGCTCACGCTGC TCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAG GCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCG GGAGAGCACCGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAAC CCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACG CGTCCCTAAACCCAGACGCCCGGGAGAGCACCGGCTCACGCTGCTCGGTG CTATGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAGGCTCAC GCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAA CACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGAC GCCCGGGAGAGCACCGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCC TAAACCCAGACGCCCGGGAGAGCACCGGCTCACGCTGCTCGGTGCTGTGC ACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCT CGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGG CTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCTGG GAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCC CAGACGCCTGGGAGAACACAGGCTCACGCTGCTCTCTGCTGTGCCCACGC GTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGC TGTGCACACGCGTCCCTAATCCCAGATGCC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170377914	C C	CGCCTGGG others(847): Show CGCCTGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCC CTAATCCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTG CACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGC TCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAG GCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCG GGAGAACACAGGCTCACGCGGCTCGGTGCTGTGCACACGCGTCCCTAAAC CCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACG CGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTG CTGTGCACACGCGTCCCTAAACCCAGACGCCTGGGAGAACACAGGCTCAC GCTGCTCTCTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAA CACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGAC GCCCGGGAGAGCACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCC TAAACCCAGACGCCTGGGAGAACACAGGCTCACGCTGCTCTCTGCTGTGC ACACGCGTCCCTAAACCCAGACGCCTGGGAGAACACAGGCTCACGCTGCT CGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCTGGGAGAACACAGG CTCACGCTGCTCTCTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGG GAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCC CAGAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0017 a0001c0009t0017	a0001c0009t0017g0092 a0001c0009t0017g0092	1	152	0.0066	854	c.228 others(875): Show c.2284-10363_2284-10362insACACAGGCTCACGCTGCTCGGTGC TGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAGGCTCACG CTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAAC ACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACG CCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCT AAACCCAGACGCCCGGGAGAACACAGGCTCACGCGGCTCGGTGCTGTGCA CACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTC GGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGC TCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCTGGG AGAACACAGGCTCACGCTGCTCTCTGCTGTGCACACGCGTCCCTAAACCC AGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCG TCCCTAAACCCAGACGCCCGGGAGAGCACAGGCTCACGCTGCTCGGTGCT GTGCACACGCGTCCCTAAACCCAGACGCCTGGGAGAACACAGGCTCACGC TGCTCTCTGCTGTGCACACGCGTCCCTAAACCCAGACGCCTGGGAGAACA CAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGC CTGGGAGAACACAGGCTCACGCTGCTCTCTGCTGTGCACACGCGTCCCTA AACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCAC ACGCGTCCCTAATCCCAGATGCCTGGGAGA	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170377914	C C	CGCCTGGG others(847): Show CGCCTGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCC CTAATCCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTG CACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGC TCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAG GCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCG GGAGAACACAGGCTCACGCGGCTCGGTGCTGTGCACACGCGTCCCTAAAC CCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACG CGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTG CTGTGCACATGCGTCCCTAAACCCAGACGCCTGGGAGAACACAGGCTCAC GCTGCTCTCTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAA CACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGAC GCCCGGGAGAGCACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCC TAAACCCAGACGCCTGGGAGAACACAGGCTCACGCTGCTCTCTGCTGTGC ACACGCGTCCCTAAACCCAGACGCCTGGGAGAACACAGGCTCACGCTGCT CGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCTGGGAGAACACAGG CTCACGCTGCTCTCTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGG GAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCC CAGAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0018 a0001c0009t0018	a0001c0009t0018g0091 a0001c0009t0018g0091	1	152	0.0066	854	c.228 others(875): Show c.2284-10363_2284-10362insACACAGGCTCACGCTGCTCGGTGC TGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAGGCTCACG CTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAAC ACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACG CCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCT AAACCCAGACGCCCGGGAGAACACAGGCTCACGCGGCTCGGTGCTGTGCA CACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTC GGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGC TCACGCTGCTCGGTGCTGTGCACATGCGTCCCTAAACCCAGACGCCTGGG AGAACACAGGCTCACGCTGCTCTCTGCTGTGCACACGCGTCCCTAAACCC AGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCG TCCCTAAACCCAGACGCCCGGGAGAGCACAGGCTCACGCTGCTCGGTGCT GTGCACACGCGTCCCTAAACCCAGACGCCTGGGAGAACACAGGCTCACGC TGCTCTCTGCTGTGCACACGCGTCCCTAAACCCAGACGCCTGGGAGAACA CAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGC CTGGGAGAACACAGGCTCACGCTGCTCTCTGCTGTGCACACGCGTCCCTA AACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCAC ACGCGTCCCTAATCCCAGATGCCTGGGAGA	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM240C_chr2_241888988_241905464	241896615	G G	GGGGGTGT others(847): Show GGGGGTGTGGGTGAGGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGT GGGTGTTGGGGTGTGGGTGAAGGGGTGTGGGTGTTGGGGTGTGGGTGTTG GGGTGTGGGTGTTGGGGTGTGGGTGTGGGGGTGTGGGTGAGGGGGTGTGG GTGTTGGGGTGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGG GTGTGGGTGTTGGGGTGTGGGTGAAGGGGTGTGGGTGTTGGGGTGTGGGT GTTGGGGTGTGGGTGTTGGGGTGTGGGTGAAGGGGTGTGGGTGAAGGGGT GTGGGTGTTGGGGTGTGGGTGTTGGGCTGTGGGTGTTGGGGTGTGGGTGT TGGGGTGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGAGGGGGTGT GGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTGGGTGAAG GGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGG GTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGAAGGGGTGTGGGTGTTGGG GTGTGGGTGTTGGGGTGTGGGTGTGGGGGTGTGGGTGAAGGGGTGTGGGT GTTGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGT GTGGGTGTTGGGGTGTGGGTGTGGGGGTGTGGGTGAGGGGGTGTGGGTGT TGGGGTGTGGGTGTTGGGGTGTGGGTGTGGGGGTGTGGGTGAGGGGGTGT GGGTGAGGGGGTGTGGGTGAGGGGGTGTGGGTGTTGGGGTGTGGGTGAAG GGGTGTGGGTTTTGGGGTGTGGGTGAAGGGGTGTGGGTGTTGGGGTGTGG GTGTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0015	1	13	0.0769	854	c.161 others(869): Show c.161+570_161+571insAACACCCACACCCCAACACCCACACCCCTT CACCCACACCCCAAAACCCACACCCCTTCACCCACACCCCAACACCCACA CCCCCTCACCCACACCCCCTCACCCACACCCCCTCACCCACACCCCCACA CCCACACCCCAACACCCACACCCCAACACCCACACCCCCTCACCCACACC CCCACACCCACACCCCAACACCCACACCCCAACACCCACACCCCAACACC CACACCCCAACACCCACACCCCAACACCCACACCCCTTCACCCACACCCC CACACCCACACCCCAACACCCACACCCCAACACCCACACCCCTTCACCCA CACCCCCACACCCACACCCCCACACCCACACCCCAACACCCACACCCCAA CACCCACACCCCAACACCCACACCCCTTCACCCACACCCCAACACCCACA CCCCCACACCCACACCCCCACACCCACACCCCCTCACCCACACCCCCACA CCCACACCCCCACACCCACACCCCAACACCCACACCCCAACACCCACAGC CCAACACCCACACCCCAACACCCACACCCCTTCACCCACACCCCTTCACC CACACCCCAACACCCACACCCCAACACCCACACCCCAACACCCACACCCC TTCACCCACACCCCAACACCCACACCCCAACACCCACACCCCCACACCCA CACCCCCACACCCACACCCCAACACCCACACCCCCTCACCCACACCCCCA CACCCACACCCCAACACCCACACCCCAACACCCACACCCCAACACCCACA CCCCTTCACCCACACCCCAACACCCACACCCCAACACCCACACCCCAACA CCCACACCCCCTCACCCACACCCC	FAM240C	ENSG00000216921.9	transcript	ENST00000404031.6	protein_coding	2/2			chr2	TogoVar
FBXL14_chr12_1560993_1599581	1574377	G G	GGTGTGGG others(847): Show GGTGTGGGTGGAGGCTGGGGTAAGAGGAGGCTGGTGGCAGCGGTGTGGAT GGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCACTGTGGATGGAGGCTGGG GTGAGGGGAGGCTGGTGGCAGCCGTGTGGGTGGAGGCTGGGGTGAGGGGA GGCTGGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGGAGGCTGGGGT GGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGAGGAGGC TGGTGGCAGCAGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGGGTGGG GGAGGCTGGTGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGAGGCT GGCGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGC AGCGGTGTGGGTGGAGGCTGGGTGAGGGGAGGCTGGTGGCAGTGGTGTGG GTGGAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCT GGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGGGG GGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTAGGGGAGGCTGGC GGCAGCAGCGGTGTGGGCGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGC GGTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGCAGCAGCGGTGTGGGT GGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGG GGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGTGGAGGCTGGGTGAGGA GGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGTGG CAGCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp2 others(60): Show HG00099.hp1 HG00323.hp1 HG00408.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01515.hp1 HG01516.hp2 HG01952.hp2 HG02040.hp2 HG02074.hp2 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02735.hp1 HG03491.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18942.hp2 NA18945.hp2 NA18948.hp2 NA18957.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp2 NA18970.hp1 NA18981.hp1 NA18984.hp1 NA18999.hp1 NA19003.hp2 NA19011.hp2 NA19030.hp2 NA19062.hp2 NA19083.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0020 a0001c0001t0031 a0001c0001t0032 a0001c0001t0038 a0001c0004t0010 a0001c0004t0037	a0001c0001t0001g0009 a0001c0001t0001g0083 a0001c0001t0001g0102 others(58): Show a0001c0001t0001g0009 a0001c0001t0001g0083 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0143 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0201 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0002g0328 a0001c0001t0003g0123 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0204 a0001c0001t0003g0218 a0001c0001t0004g0162 a0001c0001t0004g0213 a0001c0001t0004g0215 a0001c0001t0006g0035 a0001c0001t0007g0008 a0001c0001t0007g0115 a0001c0001t0010g0056 a0001c0001t0010g0058 a0001c0001t0020g0019 a0001c0001t0031g0179 a0001c0001t0032g0140 a0001c0001t0038g0398 a0001c0004t0010g0049 a0001c0004t0010g0050 a0001c0004t0037g0397	63	158	0.3987	854	c.119 others(873): Show c.1195-7568_1195-7567insTGCTGCCACCAGCCTCCCCTCACCCC AGCCTCCATCCACACCGCTGCCACCAGCCTCCTCACCCAGCCTCCACCCA CACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCGCT GCCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCAGC CTCCCCTCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCTCA CCCCAGCCTCCGCCCACACCGCTGCTGCCGCCAGCCTCCCCTACCCCAGC CTCCATCCACACCGCTGCCACCAGCCTCCCCCCACCCCAGCCTCCACCCA CACCGCTGCCACCAGCCTCCCCCCACCCCAGCCTCCACCCACACCGCTGC CACCAGCCTCCCCCCACCCCAGCCTCCACCCACACCACTGCCACCAGCCT CCCCTCACCCAGCCTCCACCCACACCGCTGCCACCAGCCTCCCCTCACCC CAGCCTCCACCCACACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCTC CACCCACACCGCTGCTGCCACCAGCCTCCCCCACCCCAGCCTCCCCTCAC CCCAGCCTCCACCCACACTGCTGCCACCAGCCTCCTCTCACCCCAGCCTC CATCCACACCGCTGCCACCAGCCTCCCCCACCCCAGCCTCCACCCACACT GCTGCCACCAGCCTCCTCTCACCCCAGCCTCCCCTCACCCCAGCCTCCAC CCACACGGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCATCCACAGTGC TGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCGCTGCCACCAGC CTCCTCTTACCCCAGCCTCCACCCACAC	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
FBXL14_chr12_1560993_1599581	1574377	G G	GGTGTGGG others(847): Show GGTGTGGGTGGAGGCTGGGGTGAGAGGAGGCTGGTGGCAGCGGTGTGGAT GGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCACTGTGGATGGAGGCTGGG GTGAGGGGAGGCTGGTGGCAGCCGTGTGGGTGGAGGCTGGGGTGAGGGGA GGCTGGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGGAGGCTGGGGT GGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGAGGAGGC TGGTGGCAGCAGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGGGTGGG GGAGGCTGGTGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGAGGCT GGCGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGC AGCGGTGTGGGTGGAGGCTGGGTGAGGGGAGGCTGGTGGCAGTGGTGTGG GTGGAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCT GGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGGGG GGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTAGGGGAGGCTGGC GGCAGCAGCGGTGTGGGCGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGC GGTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGCAGCAGCGGTGTGGGT GGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGG GGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGTGGAGGCTGGGTGAGGA GGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGTGG CAGCA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG04115.hp1 HG03239.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0299 a0001c0001t0002g0331 a0001c0001t0002g0299 a0001c0001t0002g0331	2	97	0.0206	854	c.119 others(873): Show c.1195-7568_1195-7567insTGCTGCCACCAGCCTCCCCTCACCCC AGCCTCCATCCACACCGCTGCCACCAGCCTCCTCACCCAGCCTCCACCCA CACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCGCT GCCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCAGC CTCCCCTCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCTCA CCCCAGCCTCCGCCCACACCGCTGCTGCCGCCAGCCTCCCCTACCCCAGC CTCCATCCACACCGCTGCCACCAGCCTCCCCCCACCCCAGCCTCCACCCA CACCGCTGCCACCAGCCTCCCCCCACCCCAGCCTCCACCCACACCGCTGC CACCAGCCTCCCCCCACCCCAGCCTCCACCCACACCACTGCCACCAGCCT CCCCTCACCCAGCCTCCACCCACACCGCTGCCACCAGCCTCCCCTCACCC CAGCCTCCACCCACACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCTC CACCCACACCGCTGCTGCCACCAGCCTCCCCCACCCCAGCCTCCCCTCAC CCCAGCCTCCACCCACACTGCTGCCACCAGCCTCCTCTCACCCCAGCCTC CATCCACACCGCTGCCACCAGCCTCCCCCACCCCAGCCTCCACCCACACT GCTGCCACCAGCCTCCTCTCACCCCAGCCTCCCCTCACCCCAGCCTCCAC CCACACGGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCATCCACAGTGC TGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCGCTGCCACCAGC CTCCTCTCACCCCAGCCTCCACCCACAC	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(847): Show TATATATGAATATATAAATATATATAAATATATAAATATATAAATAAAAA TATATAAAAATATATACATATATAAATATAAATATATAATATATAAATAT ATAAATATATAAATATATAAATATAAATATATAATATATAAATATATAAA TATATAAATATATAAATATAAATATATAAAAATATATAAATATATAAAAA TATATAAATATATAAATATATATAAATATATAAATATATAAATATATATA AATATATAAATATATAAATATATAAAAATATATAAATACATAAATATATA AATATATAAATATATAAATATATAAATATATATAAGTACATATAAATATA TATACATAAATATATAAATATATAAATATATAAATATATAAATACATAAT ATATATAAATATAAAATATATATAATATATAAAATATATTAAAAATATAA AAATATATATAAAAAATATATAAATATATAAAAATATATAAAAAATATAT ACACATATAAATATATATAAAAATATATAAATATATATAAAAATATATAA ATATATATTATATATAAATATATAATATATAAATATATATAAATATATAA ATATATATAAATATATACAATATATAAATATATATAAATATATACAATAT ATAAATATATATATACAATATATAAATATATATAAATATATACAATATAT AAATATATATAAATATATACAATATATAAATATATATAAATATATACAAT ATATAAATATATATAAATATATATAATATATAAATATATATAAATATATA AATATATATAAATATATATAATATATAAATATATAAAAATATATAAATAT ATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	12	0.0833	854	c.617 others(871): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTATATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATATATATATTTATATATTGTATATATTTATATATAT TTATATATTGTATATATTTATATATATTTATATATTTATATATATTTATA TATTATATATTTATATATAATATATATTTATATATTTTTATATATATTTA TATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTAT ATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTTATA TATTATATATATTTTATATTTATATATATTATGTATTTATATATTTATAT ATTTATATATTTATATATTTATGTATATATATTTATATGTACTTATATAT ATTTATATATTTATATATTTATATATTTATATATTTATGTATTTATATAT TTTTATATATTTATATATTTATATATTTATATATATTTATATATTTATAT ATTTATATATATTTATATATTTATATATTTTTATATATTTATATATTTTT ATATATTTATATTTATATATTTATATATTTATATATTTATATATTATATA TTTATATTTATATATTTATATATTTATATATTTATATATTATATATTTAT ATTTATATATGTATATATTTTTATATATTTTTATTTATATATTTATATAT TTATATATATTTATATATTCATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
GNAQ_chr9_77711097_78036811	77975783	G G	GCCTCAGC others(847): Show GCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCTCA GCCCCGTTATCGGCCTTTTAATGGAGAGCAACAGGAAGAACAATCCTATA AAGCTCTCACTGCAATGAGAGTCATAGGATTCAGTGTGTTCTTTTGAAGA CCCTTCTGAGAGCTGTCCTTCTGATCCTGGCATCGGGAAGAGCCATGTCA CTGTTAAACAGTTTGTTTTAAAGATACTACAAGTGGTATAACTGATAAGG CTTCTATGTTATGCCAGTTGCTAGCAAGCTCCATGCCCAGTTTGAGGTTC ACTGACATTATGTGTATCATTTCATTCTGATTCCATTTACTATCCTGCAG TTGTTTTAACTTTTTGTCTTCCACCTGCTTCTAATTTATATTAGTTTATA TTTAACAAAAGCATCTTTAAATGCTTTTAGAAAAAGGTAGAACACAAAGT AAAGTGCCCAGTAAATGTTCAGCTCATTTTCAACAATCAAGGCTGAAGAA CAACTGGGGTCAGGTGTTAAGAGTCCTAACCAGTGGTAAAAATTGGCAGC CAAAAACTATCCACTCAACAGGCTTGGTTTTTGTTTTTTGGTTTTTGGTT TTTTTTTGTTTTTGTTTTTGTTTTTTTTGAGACAGAGTCTCGCTCTGTTG CCCAGGCTGGAGTGCAATGGCACGATCTCAACTCAGTGCAACCTCCGCCT CCCAGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTA CAGGCACGCGCTGCCACGCTGGCTAATTTTTGCATTTTTAGCAGAGATGG GGTTTCACCATATTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCC ACCCA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG01261.hp1 others(3): Show HG00323.hp2 HG00735.hp2 HG01261.hp1 HG03942.hp1 HG04115.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0020 a0001c0001t0036 others(1): Show a0001c0001t0016 a0001c0001t0020 a0001c0001t0036 a0001c0001t0037	a0001c0001t0016g0007 a0001c0001t0016g0009 a0001c0001t0016g0010 others(3): Show a0001c0001t0016g0007 a0001c0001t0016g0009 a0001c0001t0016g0010 a0001c0001t0020g0001 a0001c0001t0036g0005 a0001c0001t0037g0008	6	279	0.0215	854	c.137 others(873): Show c.137-53439_137-53438insTGGGTGGATCACGAGGTCAGGAGTTT GAGACCAGCCTGACCAATATGGTGAAACCCCATCTCTGCTAAAAATGCAA AAATTAGCCAGCGTGGCAGCGCGTGCCTGTAATCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATCACCTGAACCTGGGAGGCGGAGGTTGCACTGAGTT GAGATCGTGCCATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCT CAAAAAAAACAAAAACAAAAACAAAAAAAAACCAAAAACCAAAAAACAAA AACCAAGCCTGTTGAGTGGATAGTTTTTGGCTGCCAATTTTTACCACTGG TTAGGACTCTTAACACCTGACCCCAGTTGTTCTTCAGCCTTGATTGTTGA AAATGAGCTGAACATTTACTGGGCACTTTACTTTGTGTTCTACCTTTTTC TAAAAGCATTTAAAGATGCTTTTGTTAAATATAAACTAATATAAATTAGA AGCAGGTGGAAGACAAAAAGTTAAAACAACTGCAGGATAGTAAATGGAAT CAGAATGAAATGATACACATAATGTCAGTGAACCTCAAACTGGGCATGGA GCTTGCTAGCAACTGGCATAACATAGAAGCCTTATCAGTTATACCACTTG TAGTATCTTTAAAACAAACTGTTTAACAGTGACATGGCTCTTCCCGATGC CAGGATCAGAAGGACAGCTCTCAGAAGGGTCTTCAAAAGAACACACTGAA TCCTATGACTCTCATTGCAGTGAGAGCTTTATAGGATTGTTCTTCCTGTT GCTCTCCATTAAAAGGCCGATAACGGGGCTGAGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCTGAGG	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	1/6			chr9	TogoVar

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