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
LMF1_chr16_848634_975984	859094	G G	GGACGGGT others(837): Show GGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGTTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGAGGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCAGGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGAC GGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGATGG GTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGATGGGTGT GAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCA GTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGCAGTG ATGTCACGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGT CTCGGGATGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGG ACGGGTGTGAGTGATGTCACGGGACGGGTGTGAGTGGTGTCTCGA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0133 a0001c0003t0001g0133	1	185	0.0054	844	c.153 others(863): Show c.1530-4389_1530-4388insTCGAGACACCACTCACACCCGTCCCG TGACATCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGA CACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACAC CACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGACACCACT CACACCCATCCCGTGACATCACTGCACACCCATCCCGTGACACCACTCAC ACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCACAC CCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCGT CCCGAGACACCACTCACACCCATCCCGAGACACCACTGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGA GACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCCTGAC ACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCA CTCACACCCGTCCCGAGACACCACTGCACACCCCTCCCGAGACACCACTG CACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACA CCCGTCCCGTGACAACACTGCACACCCGTCCCGAGACACCACTCACACCC GTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTC CCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCG AGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGA CACCACTGCACACCCGTC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(837): Show ATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAG TCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAT ATATAGTCACATATGTATATAAAACTAAATATAGTCATATATGTATATAA AACTATATATAGTTACATGTATATAAAACTATATATAGTTATATGTATAT AAAACTATAGTCATATATGTATATAAAACTATATATAGTCATATATGTAT ATAAAACTATATATAGTCATATATGTATATAAAACTATATAGTCATATAT GTATATAAAATTATATACAGTCATATATGTATATAAAACTATATACAGTC ATATATGTATATAAAACTATACAGTCATATATGTATATAAAACTATATAT AGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACT ATATATAGTCATATATGTATATAAAACTATATAGTCATATATGTATATAA AACTATATAGTCATATATGTATATAAAACTATATAGTTATATATGTATAT AAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAA AACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAA CTATAGTTATATATGTAAAACTATAGTTATATATGTATGTAAAACTATAG TTATATATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTAT ATACAGTTATGTATGTATGTAAAACTATATAGTTATGTATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	170	0.0059	844	c.-30 others(855): Show c.-3002_-3001insTAAAACTATATATAGTCACATATGTATATAAAAC TATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATA TGTATATAAAACTATATATAGTCACATATGTATATAAAACTAAATATAGT CATATATGTATATAAAACTATATATAGTTACATGTATATAAAACTATATA TAGTTATATGTATATAAAACTATAGTCATATATGTATATAAAACTATATA TAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAAC TATATAGTCATATATGTATATAAAATTATATACAGTCATATATGTATATA AAACTATATACAGTCATATATGTATATAAAACTATACAGTCATATATGTA TATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCATA TATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATAGT CATATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATATA GTTATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGT TATATATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTA TATATGTATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATG TATGTAAAACTATAGTTATATATGTATGTAAAACTATATACAGTTATGTA TGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATAGTTA TGTATGTATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256766	T T	TATAGTCA others(837): Show TATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAA ACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTA TATAAAACTAAATATAGTCATATATGTATATAAAACTATATATAGTTATA TGTATATAAAACTATATATAGTTATATGTATATAAAACTATAGTCATATA TGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAATTATATACAGTCATATATGTATATAAA ACTATATACAGTCATATATGTATATAAAACTATACAGTCATATATGTATA TAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCATATA TGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATAGTCA TATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATATAGT TATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTA TATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATA TATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATA TGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATG TAAAACTATATACAGTTATGTATGTATGTAAAACTATATACAGTTATGTA TGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0008 a0003c0003t0001g0008	1	348	0.0029	844	c.-29 others(855): Show c.-2991_-2990insATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATAT ATAGTCACATATGTATATAAAACTAAATATAGTCATATATGTATATAAAA CTATATATAGTTATATGTATATAAAACTATATATAGTTATATGTATATAA AACTATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATAT AAAACTATATATAGTCATATATGTATATAAAACTATATACAGTCATATAT GTATATAAAACTATATACAGTCATATATGTATATAAAATTATATACAGTC ATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATAC AGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACT ATATATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATAT AAAACTATATAGTCATATATGTATATAAAACTATATAGTCATATATGTAT ATAAAACTATATAGTTATATATGTATATAAAACTATAGTTATATATGTAT ATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGTATAT AAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAA AACTATAGTTATATATGTAAAACTATAGTTATATATGTATGTAAAACTAT AGTTATATATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACT ATATACAGTTATGTATGTATGTAAAACTATACACAGTTATGTATGTATGT AAAACTATAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2920		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256766	T T	TATAGTCA others(837): Show TATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAA ACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTA TATAAAACTAAATATAGTCATATATGTATATAAAACTATATATAGTTATA TGTATATAAAACTATATATAGTTATATGTATATAAAACTATAGTCATATA TGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAATTATATACAGTCATATATGTATATAAA ACTATATACAGTCATATATGTATATAAAACTATACAGTCATATATGTATA TAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCATATA TGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATAGTCA TATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATATAGT TATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTA TATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATA TATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATA TGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATG TAAAACTATATACAGTTATGTATGTATGTAAAACTATATACAGTTATGTA TGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02895.hp2 HG03041.hp2 others(1): Show HG02622.hp2 HG02895.hp2 HG03041.hp2 HG03579.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0008 a0003c0003t0001g0001 a0003c0003t0001g0008	4	351	0.0114	844	c.-29 others(855): Show c.-2991_-2990insATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATAT ATAGTCACATATGTATATAAAACTAAATATAGTCATATATGTATATAAAA CTATATATAGTTATATGTATATAAAACTATATATAGTTATATGTATATAA AACTATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATAT AAAACTATATATAGTCATATATGTATATAAAACTATATACAGTCATATAT GTATATAAAACTATATACAGTCATATATGTATATAAAATTATATACAGTC ATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATAC AGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACT ATATATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATAT AAAACTATATAGTCATATATGTATATAAAACTATATAGTCATATATGTAT ATAAAACTATATAGTTATATATGTATATAAAACTATAGTTATATATGTAT ATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGTATAT AAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAA AACTATAGTTATATATGTAAAACTATAGTTATATATGTATGTAAAACTAT AGTTATATATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACT ATATACAGTTATGTATGTATGTAAAACTATATACAGTTATGTATGTATGT AAAACTATAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2920		chr1	TogoVar
MAML2_chr11_95971598_96348195	96089966	C C	CCATTGGT others(837): Show CCATTGGTGTGCTTGGGTCCTAGAAACTCGGGTGGGGACTAAGAGGTCAG GAATATGGTTTATAGTTGCTGATATCAGCAGTATGTCCGGAAACAGACCA GAGGATGTTGGAGGTGGCAGGGAGGCTCCCAGAAAAGGACTGATGGGGCA CCAAAGATATATGTTTCTACGTGGTGGCTCGTGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGAGGGCGGATCACTAGCTCAGGAATTCTAGACCAGCA TGGCCAACTTGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCA GGCTTGGTGATGCCCGCCTGTAATCCGAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCTGGGAAGTGGAAGTTGCAGCGAGCCGAGATCAAG CCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAA AAAAAAAAGATATATATTTCCTTTTGTAAATTGTTTATTTTGGCTAACTC CATAATGTTTACCCTCAGGAAGGCTAACAGTCACACAGATATGTATGTAT GTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTATATAAAA TTTCTTTAGCGTCTCTAAAGAATAGAGTTTAGGATATGTTTTTATCCCAA AGGACTTAATCTACTATGTAGATTATGTAAGTAGGGCTCAACATTAGAAG AATATTCTTTTTAAGAATTCCACAATGATCTAGGACTCCAGCAAATCCTA CCTGTGAGCTGTAGATCCTAGTGGCTGAAAGTATAGGCTTCAAAGTAGAT CATCAGAATCCTGCAGCTGCTACTCATTATCTGTGCAAACTTGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01175.hp1 others(8): Show HG00099.hp2 HG00639.hp1 HG01175.hp1 HG01261.hp2 HG02004.hp1 HG02258.hp2 HG02280.hp1 HG02630.hp1 HG03041.hp1 HG04184.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0022 a0001c0001t0034 a0001c0019t0001	a0001c0001t0001g0105 a0001c0001t0001g0204 a0001c0001t0001g0217 others(8): Show a0001c0001t0001g0105 a0001c0001t0001g0204 a0001c0001t0001g0217 a0001c0001t0002g0007 a0001c0001t0004g0184 a0001c0001t0005g0051 a0001c0001t0007g0075 a0001c0001t0008g0163 a0001c0001t0022g0001 a0001c0001t0034g0153 a0001c0019t0001g0143	11	133	0.0827	844	c.213 others(863): Show c.2139+1925_2139+1926insCCCAAGTTTGCACAGATAATGAGTAG CAGCTGCAGGATTCTGATGATCTACTTTGAAGCCTATACTTTCAGCCACT AGGATCTACAGCTCACAGGTAGGATTTGCTGGAGTCCTAGATCATTGTGG AATTCTTAAAAAGAATATTCTTCTAATGTTGAGCCCTACTTACATAATCT ACATAGTAGATTAAGTCCTTTGGGATAAAAACATATCCTAAACTCTATTC TTTAGAGACGCTAAAGAAATTTTATATACACACACATACACACACACACA CACACACACACACACATACATACATACATATCTGTGTGACTGTTAGCCTT CCTGAGGGTAAACATTATGGAGTTAGCCAAAATAAACAATTTACAAAAGG AAATATATATCTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCGCTGCAACTTCCACTTC CCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGATTAC AGGCGGGCATCACCAAGCCTGGCTAATTTTTATATTTTTAGTAGAGATGG GGTTTCACCAAGTTGGCCATGCTGGTCTAGAATTCCTGAGCTAGTGATCC GCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCACG TAGAAACATATATCTTTGGTGCCCCATCAGTCCTTTTCTGGGAGCCTCCC TGCCACCTCCAACATCCTCTGGTCTGTTTCCGGACATACTGCTGATATCA GCAACTATAAACCATATTCCTGACCTCTTAGTCCCCACCCGAGTTTCTAG GACCCAAGCACACCAATG	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96089966	C C	CCATTGGT others(837): Show CCATTGGTGTGCTTGGGTCCTAGAAACTCGGGTGGGGACTAAGAGGTCAG GAATATGGTTTATAGTTGCTGATATCAGCAGTATGTCCGGAAACAGACCA GAGGATGTTGGAGGTGGCAGGGAGGCTCCCAGAAAAGGACTGATGGGGCA CCAAAGATATATGTTTCTACGTGGTGGCTCGTGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGAGGGCGGATCACTAGCTCAGGAATTCTAGACCAGCA TGGCCAACTTGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCA GGCTTGGTGATGCCCGCCTGTAATCCGAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCTGGGAAGTGGAAGTTGCAGCGAGCCGAGATCAAG CCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAA AAAAAAAAGATATATATTTCCTTTTGTAAATTGTTTATTTTGGCTAACTC CATAATGTTTACCCTCAGGAAGGCTAACAGTCACACAGATATGTATGTAT GTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTATATAAAA TTTCTTTAGCGTCTCTAAAGAATAGAGTTTAGGATATGTTTTTATCCCAA AGGACTTAATCTACTATGTAGATTATGTAAGTAGGGCTCAACATTAGAAG AATATTCTTTTTAAGAATTCCACAATGATCTAGGACTCCAGCAAATCCTA CCTGTGAGCTGTAGATCCTAGTGGCTGAAAGTATAGGCTTCAAAGTAGAT TATCAGAATCCTGCAGCTGCTACTCATTATCTGTGCAAACTTGGG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	123	0.0081	844	c.213 others(863): Show c.2139+1925_2139+1926insCCCAAGTTTGCACAGATAATGAGTAG CAGCTGCAGGATTCTGATAATCTACTTTGAAGCCTATACTTTCAGCCACT AGGATCTACAGCTCACAGGTAGGATTTGCTGGAGTCCTAGATCATTGTGG AATTCTTAAAAAGAATATTCTTCTAATGTTGAGCCCTACTTACATAATCT ACATAGTAGATTAAGTCCTTTGGGATAAAAACATATCCTAAACTCTATTC TTTAGAGACGCTAAAGAAATTTTATATACACACACATACACACACACACA CACACACACACACACATACATACATACATATCTGTGTGACTGTTAGCCTT CCTGAGGGTAAACATTATGGAGTTAGCCAAAATAAACAATTTACAAAAGG AAATATATATCTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCGCTGCAACTTCCACTTC CCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGATTAC AGGCGGGCATCACCAAGCCTGGCTAATTTTTATATTTTTAGTAGAGATGG GGTTTCACCAAGTTGGCCATGCTGGTCTAGAATTCCTGAGCTAGTGATCC GCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCACG TAGAAACATATATCTTTGGTGCCCCATCAGTCCTTTTCTGGGAGCCTCCC TGCCACCTCCAACATCCTCTGGTCTGTTTCCGGACATACTGCTGATATCA GCAACTATAAACCATATTCCTGACCTCTTAGTCCCCACCCGAGTTTCTAG GACCCAAGCACACCAATG	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MARCHF1_chr4_163519718_164389019	163640958	T T	TAAAAAAA others(837): Show TAAAAAAAGACTTCATAAAAAACACATGAAGAAATGCTCATCATCACTGG CCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCA GTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGG ATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAG TTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTA GAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGA GTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGG CACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATG ATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGC AGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAAT TGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACAC CGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACA CAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGG GGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTG GGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCAC AATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAA AAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0096 a0001c0002t0003g0096	1	102	0.0098	844	c.163 others(863): Show c.163-27566_163-27565insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTT TAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGC CATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATC TCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAG TGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCAC CTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTA CTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAA CTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACA TTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTC TTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTT ATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGG CTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACT GACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAG TGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTT TAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTG ATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTT TTTATGAAGTCTTTTTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	5/9			chr4	TogoVar
MICALL2_chr7_1429359_1464470	1446353	G G	GGAGTGAG others(837): Show GGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGA GAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGA GAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGA GGGGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGG AGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGG AGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGA GGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCA GTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAG GGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGGAGGAGG GAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGG GGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGA GAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGA GAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGA GGGGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	173	0.0058	844	c.641 others(859): Show c.641+359_641+360insTTCACTCTTCTCTCCCTACTGCTCCGCCTC CTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCC CCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTC CTCCCCCCTCCTCTCCCTCCTCCCCCCCTCCTCTCCCTCCTCCCCCCTCC TCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCA CTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCC CCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCT ACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCT CCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTC CTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCC CCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTT TTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCC CCCTTCTCTCACTC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(837): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGA AAAGGGGCGGGGAAGGGGGGAAAGGGGCGGGGGGAAGGGGGAAAGGGGTG GGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAA GGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAG GGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGA TGGAGGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAG GGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGG GGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAG GGGGAGGGGAGGGAAGAGAGGGAGGGGAGAGGGAGGAGGGAGGGGGAGGG AGGGGGAGGAGGGAGGGAGGGGGGAGGGAGGGAGGGAGGGGGAGGGGGAG GGAGGGAGGGAGGGGAGGGGAGGGGAGGGATGGGGAGGTGGAGGGAGGAG GAGGGGATGGGAGAGGATGGTGAGGTGGAGGAGGGAGGGGGAGGGGGAGG GAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGGGAGGGGGAGGGAA GGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	8	0.1250	844	c.250 others(859): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCCTCCTCCACCTCACCATC CTCTCCCATCCCCTCCTCCTCCCTCCACCTCCCCATCCCTCCCCTCCCCT CCCCTCCCTCCCTCCCTCCCCCTCCCCCTCCCTCCCTCCCTCCCCCCTCC CTCCCTCCTCCCCCTCCCTCCCCCTCCCTCCTCCCTCTCCCCTCCCTCTC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTC CCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCC CCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCC CCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCC TTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTCCCCC CTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCC CCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTC CCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NOTCH1_chr9_136489433_136551048	136528443	G G	GGGGGGAT others(837): Show GGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGATGGGCAGGG ACAGTGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGG TGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGTGGGCAGG GACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGT GAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGCG ATGGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGG CAGGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACA GTGGGGCGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAG GGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAG TGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGG GGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGTTGGGGATGA GCAGGGACAGTGCGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGG ACAGTGCGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTG TTGGGGATGAGCAGGGACAGTGCGGGGGATGGGCAGGGACAGTGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp2 NA20300.hp2 HG02717.hp1 HG02717.hp2 NA20300.hp2	a0001 a0012 a0025 a0001 a0012 a0025	a0001c0003 a0012c0034 a0025c0038 a0001c0003 a0012c0034 a0025c0038	a0001c0003t0001 a0012c0034t0014 a0025c0038t0001 a0001c0003t0001 a0012c0034t0014 a0025c0038t0001	a0001c0003t0001g0208 a0012c0034t0014g0093 a0025c0038t0001g0202 a0001c0003t0001g0208 a0012c0034t0014g0093 a0025c0038t0001g0202	3	285	0.0105	844	c.141 others(861): Show c.141-4465_141-4464insTCACTGTCCCTGCCCATCCCCCGCACTG TCCCTGCTCATCCCCAACACTGTCCCTGCCCATCCCCCTCACTGTCCCTG CCCATCCCCCGCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATC CCCCGCACTGTCCCTGCTCATCCCCAACACTGTCCCTGCCCATCCCCCTC ACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTC CCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCC CATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCC CCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTC CTTGCCCATCGCCCCACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCAT CCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCGCCCC CCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACCCCCCACTGT CCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGC CCATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCGCC CCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTC CCTGCCCATCCCCCTCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTG CCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACC CCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTG TCCCTGCCCATCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NUP93_chr16_56725129_56855286	56739350	C C	CCCCCCCC others(837): Show CCCCCCCCACCTCCCTCCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGTGGGGGCTGACTCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGC GCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0239 a0001c0001t0004g0239	1	351	0.0028	844	c.-14 others(861): Show c.-14-8864_-14-8863insGCGGGGGGCTGACCCCCCAACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGTGGGGGCTGACTCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCT GGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGG CGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCC CCCACCTCCCTCCCGG	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739350	C C	CCCCCCCC others(837): Show CCCCCCCCACCTCCCTCCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGTGGGGGCTGACTCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGC TGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGC GCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0240 a0001c0001t0004g0240	1	351	0.0028	844	c.-14 others(861): Show c.-14-8864_-14-8863insGCGGGGGGCTGACCCCCCAACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCGTGGGGGCTGACTCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCT GGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGG CTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGG CGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCC CCCACCTCCCTCCCGG	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(837): Show ATGTATATATATGTGTATATATGCATATATGTATATGCATATGTGTATAT ATGCATATATGCATATGCATATGTGTATATATGCATATATGCATATGCAT ATGTGTATATATGCATATATATGCATATGCATATGTGTGTATATATACAT ATATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCAT ATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATAC ATATATATGCATATGCATATGTGTGTATATATACATATATATGCATATGC ATATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATAT ACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATAT GCATATGTGTGTATATATACATATACATGTATATGCATATGTGTGTATAT ATACATATACATGTATATGCATATGTGTGTATATATACATATACATGTAT ATGCATGTGTGTATATATACATATACATGTATATGCATATGTGTGTATAT ATACATATACATGTATATGCATATGTGTGTATATATACATATACATGTAT ATGCATATGTGTGTATATATACACATATACATGTATATGCATATGTGTGT ATATATACACATATACATGTATATGCATATGTGTGTATATATACACATAT ACATGTATATGCATATGTGTGTATACATATACATATATATGCATATATGT GTATACATATACATATATATGCATATATGTGTATATATACACATATATAT GTGTGTGTATATATATGTGTGTGTATATATACACATATATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	135	0.0074	844	c.31 others(855): Show c.3116_*3117insTGTATATATATGTGTATATATGCATATATGTATA TGCATATGTGTATATATGCATATATGCATATGCATATGTGTATATATGCA TATATGCATATGCATATGTGTATATATGCATATATATGCATATGCATATG TGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACATA TATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATA TGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACA TATATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCA TATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATA CATATATATGTATATGCATATGTGTGTATATATACATATACATGTATATG CATATGTGTGTATATATACATATACATGTATATGCATATGTGTGTATATA TACATATACATGTATATGCATGTGTGTATATATACATATACATGTATATG CATATGTGTGTATATATACATATACATGTATATGCATATGTGTGTATATA TACATATACATGTATATGCATATGTGTGTATATATACACATATACATGTA TATGCATATGTGTGTATATATACACATATACATGTATATGCATATGTGTG TATATATACACATATACATGTATATGCATATGTGTGTATACATATACATA TATATGCATATATGTGTATACATATACATATATATGCATATATGTGTATA TATACACATATATATGTGTGTGTATATATATGTGTGTGTATATATACACA TATATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
PCBP3_chr21_45638725_45947450	45910132	C C	CGCCACCC others(837): Show CGCCACCCACTGCCCAGATATGGACCCCCCCCCGCCCACTGCCCAGATAC GGACCCCCCGCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCC CAGATACGGACCCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCAC CCACTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATACGGACCCGG CCACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATACAGA CCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCAGA TACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCCACACACAC TTCCCAGATACGGACCCCCCTCACCTGCTTCCCAAATATGGACCTGGCCC ACCCACTGCCCAGATACGGACCCCCCCCACCACTGCCCAGATACGGACCC CCCCCGCCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATAC GGACCCGGCCCACCCACTGCCCAGATACGGACCTGGCCACCCACTGCCCA GATACGGACCCGGCCACCCACTGCCCAGATACAGACCCGGCCCACCCACT GCCCAGATATGGACCCCCCCAACCCACTTCCCAGATACGGACCCCCCCAC ACACACTTCCCAGATACGGACCCCCCCACACACACTTCCCAGATACGGAC CCCCCTCACCTGCTTCCCAAATATGGACCTGGCCCACCCACTGCCCAGAT ATGGACCCCCCCCACCACTGCCCAGATACGGACCCCCCCCCACCCACTTC CCAGATATGGACCTGGCCACCCACTGCCCAGATACGGACCCCCCG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	48	0.0208	844	c.471 others(859): Show c.471+646_471+647insGCCACCCACTGCCCAGATATGGACCCCCCC CCGCCCACTGCCCAGATACGGACCCCCCGCCACCCACTGCCCAGATACGG ACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCC AGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCTGGCCACCCAC TGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACAGACCCGGCCCA CCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATATGGACCC CCCCAACCCACTTCCCAGATACGGACCCCCCCACACACACTTCCCAGATA CGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCTCACCTGCTTC CCAAATATGGACCTGGCCCACCCACTGCCCAGATACGGACCCCCCCCACC ACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATACGGACCCCCC CCGCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGA CCTGGCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATA CAGACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCC CAGATACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCCACAC ACACTTCCCAGATACGGACCCCCCTCACCTGCTTCCCAAATATGGACCTG GCCCACCCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATACGG ACCCCCCCCCACCCACTTCCCAGATATGGACCTGGCCACCCACTGCCCAG ATACGGACCCCCCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17			chr21	TogoVar
PLEKHG4B_chr5_87168_194966	101034	T T	TCTATAGG others(837): Show TCTATAGGGGAGAGATTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAA AAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGG AAAAAGTCTGTAGGGGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTG GGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCC CTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAA GCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATAT AAAGCCCGGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCA TATAAAGCCCTGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAAT CCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTT AATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAG GTAAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGT GAGGTAAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGT TGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGAC TGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGTCTATAGGGGAGA GATTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGG AGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAG GGGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGGAAAAGC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0095 a0004c0006t0095	a0004c0006t0095g0004 a0004c0006t0095g0004	1	171	0.0058	844	c.45+ others(859): Show c.45+8760_45+8761insATAGGGGAGAGATTGTTGTGAGGTTAATCC ATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGACTGTTGTGAGGTAA ATCCATATAAAGCCCTGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGG TTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTG AGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTT GTGAGGTAAATCCATATAAAGCCCGGGGAAAAGCCTGTAGGGGAGAGACT GTTGTGAGGTAAATCCATATAAAGCCCTGGGAAAAGCCTGTAGGGGAGAG ACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGA GAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGG GGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGTCTGT AGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGTC TGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAA GTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAA AAAGTCTATAGGGGAGAGATTGTTGTGAGGTTAATCCATATAAAGCTCTG GAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCC CTGGAAAAAGTCTGTAGGGGAGACTGTTGTGAGGTAAATCCATATAAAGC CCTGGGAAAAGCCT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS12_chr4_3288021_3444913	3341673	A A	AGGGTGGA others(837): Show AGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGG TGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGG AGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGGGTGGAGAGATGAGGG TGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGG AGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGG GGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGATG GGGGTGTGGGCGGAGGGGAGGGTGGAGGGTGGAGAGATGAGGGTGTGGGG AGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATG GGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGG AGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGG TGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGG TGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGC GGAGGGGAGGGTGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAGG GTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGG GGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAG TTGGGGGTGTGGGGGGAGGGGAGGGTGGAGGGATGGGGGTGTGGGGGGAG GGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp2 HG02886.hp1 others(2): Show HG01243.hp2 HG02630.hp2 HG02886.hp1 HG03471.hp1 HG03579.hp1	a0005 a0005	a0005c0012 a0005c0054 a0005c0012 a0005c0054	a0005c0012t0001 a0005c0054t0001 a0005c0012t0001 a0005c0054t0001	a0005c0012t0001g0155 a0005c0012t0001g0156 a0005c0012t0001g0157 others(2): Show a0005c0012t0001g0155 a0005c0012t0001g0156 a0005c0012t0001g0157 a0005c0012t0001g0159 a0005c0054t0001g0154	5	305	0.0164	844	c.188 others(863): Show c.1882-1263_1882-1262insGGTGGAGAGTTGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATG GGGGTGTGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGG GTGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGAT GGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGG GTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGT GGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGG GTGGAGAGATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGG GGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGA GTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTG GGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGG GTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGGGTGGAGAGATG AGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGG GTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGT GGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGG AGGGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGG GGAGGGGAGGGTGGAGGG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(837): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGG AGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAACAGGAGGAGGAGGAGGAACAGGTGCTAGGACACTGTGGGGA CGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGGAGGAGGAAGAGGA GGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGG AGGAGGAACAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAAGACAC TGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGCAGGAGGAGGAG GAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGG AGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAG GAACAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACA GCAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAAGCACAGGAGGA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	2	0.5000	844	c.-12 others(863): Show c.-127+9348_-127+9349insTCCTCCTGTGCTTCCTCCTCCTCCTC CTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCC TCCTGTTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTC CTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTTCTCCTCCTCTTCCTCCTCCTCCTGCTGTCTCCACTGCCCCTGG CATCTGGGACGTCCCCACAGTGTCTTAGCACCTGTTCCTCCTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTGTCTCCACT GCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGT TCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTC CTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCGTCCTCC TGTTCTTCCTCTTCCTCCTCCTCCTCCTGTTCTTCCTCCTCCTCCTGTTC CTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCG GCATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTTCTCCTCCTCCTC CTCCTCCTGCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(837): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGG AGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAACAGGTGCTAGGACACTGTGGGGACGTCCCAGATGCCAGGGG CAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGG AGGAGGAGGAGGAGGAACAGGTGCTAAGACACTGTGGGGACGTCCCAGAT GCCAGGGGCAGTGGAGACAGCAGGAGGAGGAGGAAGAGGAGGAGAAGGAG GAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAATA GGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGG AGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAG GAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACA GGAGGAGGAGGAGGAAGCACAGGAGGAGGAGGAGGAACAGGAGGA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	2	0.5000	844	c.-12 others(863): Show c.-127+9348_-127+9349insTCCTCCTGTTCCTCCTCCTCCTCCTG TGCTTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTGTTC CTCCTCCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTGC TGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGCACC TGTTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTC CTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCT CCTCCTCCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTC CTAGCACCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTC CTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCGTCCTCC TGTTCTTCCTCTTCCTCCTCCTCCTCCTGTTCTTCCTCCTCCTCCTGTTC CTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCG GCATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTTCTCCTCCTCCTC CTCCTCCTGCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SEL1L2_chr20_13844247_13995614	13934358	C C	CATATATA others(837): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATTCCATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	166	0.0060	844	c.115 others(861): Show c.115-2588_115-2587insATGGAATATATATATATGGAATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATGGAATATATATATATATG GAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SH2D7_chr15_78087561_78109362	78101731	G G	GAGAGGCA others(837): Show GAGAGGCAGCTGCTAGATTTGGATGTAAGATGGGGGCTTCCAGGCCCTTC TAAGGGCATTCTCTACAGCAGATCAGGGTTCCCATCCCCTCCGTCTCAGC CTCTGCAGGGGTCTTAGCGCCTCTGGGAGCAGGAGAATGGCCCCTTTGCT CCTACTCCCTCACCTTGTAGCTTTGGGCAAGACAAATTCCAGGACAACCA GTTAAACCTGAATTACAGATAAACAACAAATATTTTTGAGGCCAGGCATG GTGGCTCATGTCTGTAATCCTAGCCCTTTGGGAGGCTGAGGCAGGTGGAT TGCTTGAGCTTGGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAATCCC ATCTCTATGAAAAAATACAAAAAATTGCCAGGCGTGGTGGCCTGTAGTCT CAGCTACCTGGCGGGCAGAAGCAGGAGGATGGCTTGAACCTGGGAGGTTA AAGTTGCAATGGGTCAAGATTGCACCACTGCACTCCAGCCTGGGAGACAA AGTGAGACCCTGTTTAAAAAAACAAACAAAAAACCAAACCAAAACAAAAC AAAAACCATTTTAAAGTATGTCTTAAATACCACAATTATTCCTTTGTTTA TCCGAAATTTAAATTTAACTGGCATCTATATTCTTGTTTAGCAACCCCAC CCAGGACCTCCATTTCCTCATCTGTAAAATGGGCTGATCCTCTGCTTGTA TCCAGGGGTAGGTGCCCAGAGGATAATGCTAGACACCCTCTCCTGCTCAG AACACAGCCCAGAGAGGGCTCTTGATGAACAGAGCTATTATTCTGAGGAT CTCTGGGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTATTGGTGGC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0096 a0001c0001t0004g0096	1	430	0.0023	844	c.130 others(861): Show c.1305+583_1305+584insCGGGCAGAAGCAGGAGGATGGCTTGAAC CTGGGAGGTTAAAGTTGCAATGGGTCAAGATTGCACCACTGCACTCCAGC CTGGGAGACAAAGTGAGACCCTGTTTAAAAAAACAAACAAAAAACCAAAC CAAAACAAAACAAAAACCATTTTAAAGTATGTCTTAAATACCACAATTAT TCCTTTGTTTATCCGAAATTTAAATTTAACTGGCATCTATATTCTTGTTT AGCAACCCCACCCAGGACCTCCATTTCCTCATCTGTAAAATGGGCTGATC CTCTGCTTGTATCCAGGGGTAGGTGCCCAGAGGATAATGCTAGACACCCT CTCCTGCTCAGAACACAGCCCAGAGAGGGCTCTTGATGAACAGAGCTATT ATTCTGAGGATCTCTGGGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTATT GGTGGCAGAGGCAGCTGCTAGATTTGGATGTAAGATGGGGGCTTCCAGGC CCTTCTAAGGGCATTCTCTACAGCAGATCAGGGTTCCCATCCCCTCCGTC TCAGCCTCTGCAGGGGTCTTAGCGCCTCTGGGAGCAGGAGAATGGCCCCT TTGCTCCTACTCCCTCACCTTGTAGCTTTGGGCAAGACAAATTCCAGGAC AACCAGTTAAACCTGAATTACAGATAAACAACAAATATTTTTGAGGCCAG GCATGGTGGCTCATGTCTGTAATCCTAGCCCTTTGGGAGGCTGAGGCAGG TGGATTGCTTGAGCTTGGGAGTTTGAGACCAGCCTGGGCAACATGGCAAA ATCCCATCTCTATGAAAAAATACAAAAAATTGCCAGGCGTGGTGGCCTGT AGTCTCAGCTACCTGG	SH2D7	ENSG00000183476.13	transcript	ENST00000328828.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(837): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATATATTATAATATATAATATATTATAT TTTATAATATATAATATATTATATTTTATAATATATAATATATTATATTT TATAATATGTAATATATATTATATTTTATAATATATAATATATTATATTT TATAATATGTAATATATATTATATTTTATAATATATAATATATATTATAT ATTATAATATATAATATATATTACATATTATAATATATAATATATATTAC ATATTATAATATATAATATATATTATATATTATAATATATAATATATATT ACATATTATAATATATAATATATTATATTTTATAATATATATAAAATATA ATATATTATATTTTATAAAATATAATATATTATATTTTATAATATATAAT ATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATAT ATTATATATTATAAAATATAATATATTATATATTATAAAATATAATATAT TATATATTATAAAATATAATATATTATATATTATAAAATATAATATATTT TATAATATATAATATATTATATTTTATATTATATAAGATATTATATTTTA TAATATATAATATATTATATTTTATAATATATAATATATTATATTTTATA ATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAAT ATATAATATATTATATTTTATAATATATAATATATTATATTTTATATATA TTATAAAATATAATATATTATATTTTATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0106 a0001c0001t0013g0106	1	7	0.1429	844	c.17 others(863): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT TTTATAAAATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATATTATAATATGTAATATATATTATATATTATAATATATAATAT ATATTATATATTATAATATGTAATATATATTATATATTATAATATGTAAT ATATATTATATATTATAATATATAATATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAATATATATA TTATAATATATAATATATATTATATATTATAATATATAATATATATTATA TATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SORCS2_chr4_7187538_7747827	7449233	C C	CCCTCCCT others(837): Show CCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTTCCTCCCCTTTCTTCCCTTCTCTCTTCCTTCCCTTC TCCCTTCCTTCTTCCCTCCTTTCCTTCCTTCCTTTCTCTCCCCTCCCTCC CTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0063 a0001c0001t0008g0063	1	66	0.0152	844	c.548 others(863): Show c.548+52893_548+52894insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTTCCTCCCCTTTCTTCCCTTCTCTCTTCC TTCCCTTCTCCCTTCCTTCTTCCCTCCTTTCCTTCCTTCCTTTCTCTCCC CTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCC CTTCCTCCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D22A_chr22_46757650_47180693	46878326	A A	AGAGAGAA others(837): Show AGAGAGAAGGAGGTGGGAGGGAGAGAGAGAAGGAGGTGAGAGGGAGAGAG AGAAGGAGGTGAGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGAA GGAGGTGGGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAG GTGGGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGGACGTGGGAG GGGGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGGGAGAGA GAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAG GAGGTAGGAGGGGGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGATGGGA GGGGGAGAGAGAAGGAGGTGGGGGGAGAGAGAAGGAGGTGGGAGGGAGGG AGAGAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGACGAGGA GGTGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGGGAGG GGGGAGAGGAGGAGGTGGGAGGGGGGAGAGGAGGAGGTGGGAGGGAGGGA GAGAAGGAGGTGGGAGGGGGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGT GGGAGGGGGGAGAGAAGGAGGTGGGGGGAGAGAAGGAGGTGGGAGGGGGA GAGAGAAGGAGGTGGGGAGAAGGAGGTGGGAGTGGGGGAGAGAAGGAGGT GGGAGGGAGGGGGAGAAGGAGGTGGGATGGGGCAGAGAAGGAGGTGGGGG GAGAGAAGGAGGTGGGAGGGGGGAGAGAAGGGGGTGAGGGGGAGAGAAGG AGGTGGGAGGTGGGGAGAGAAGGAGGTGGGAGGGTGGGAGAGGGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	1	31	0.0323	844	c.638 others(859): Show c.638-306_638-305insGAGAGAGAAGGAGGTGAGAGGGAGAGAGAG AAGGAGGTGAGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGG AGGTGGGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGT GGGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGGACGTGGGAGGG GGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGGGAGAGAGA AGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGA GGTAGGAGGGGGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGATGGGAGG GGGAGAGAGAAGGAGGTGGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAG AGAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGACGAGGAGG TGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGGGAGGGG GGAGAGGAGGAGGTGGGAGGGGGGAGAGGAGGAGGTGGGAGGGAGGGAGA GAAGGAGGTGGGAGGGGGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGG GAGGGGGGAGAGAAGGAGGTGGGGGGAGAGAAGGAGGTGGGAGGGGGAGA GAGAAGGAGGTGGGGAGAAGGAGGTGGGAGTGGGGGAGAGAAGGAGGTGG GAGGGAGGGGGAGAAGGAGGTGGGATGGGGCAGAGAAGGAGGTGGGGGGA GAGAAGGAGGTGGGAGGGGGGAGAGAAGGGGGTGAGGGGGAGAGAAGGAG GTGGGAGGTGGGGAGAGAAGGAGGTGGGAGGGTGGGAGAGGGGGAGAGAA GGAGGTGGGAGGGA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1629082	C C	CGGGAAGG others(837): Show CGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAG GCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAG GCGGGAAGGGGACAGCAGAGCTCACGGGGTGGGGCGGGAAGGGGACAGCA GAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTG AGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAG CAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGT GAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACA GCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGG TGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGAC AGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGG GGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAG GGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGATGGGGTGGGAAGGGGACAGCAGAGCTC ACGGGTGGGGCGGGAAGGGGACAGAAGAGCTCATGGGGATGGGGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0111	1	288	0.0035	844	c.299 others(861): Show c.299-1657_299-1656insACCCCATCCCCATGAGCTCTTCTGTCCC CTTCCCGCCCCACCCGTGAGCTCTGCTGTCCCCTTCCCACCCCATCCCCG TGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTC CCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCAT CCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCA CCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGC TGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCC TCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTG CTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCC TCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTC TGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCC GCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCT CTGCTGTCCCCTTCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1273643	C C	CAACCGCC others(837): Show CAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAG TCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCC CACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAG ACCCCACGACCACCATCCACAGTCACCACACATCAGACCCCACGACCGCC ATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCA CATCAGACCCCACGACCACCATCCACAGTCACCACACATCAGACCCCACG ACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAG TCACCACACATCAGACCCCACGACCACCATCCACAGTCACCACACATCAG ACCCCACAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCAT CCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACA CATCAGACCCCACAACCGCCATCCACAGTCACCACATCAGACCCCACGAC CGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTC ACCACACATCAGACCCCACAACCGCCATCCACAGTCACCACATCAGACCC CACAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCCACAACCGCCATCCACAGTCACCACACAT CAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0043 a0001c0004t0001g0043	1	104	0.0096	844	c.228 others(863): Show c.2287-1364_2287-1363insTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGG GGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTG ACTGTGGATGGCGGTTGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTT GTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATG GCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTC TGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTG TGGATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGGTCGT GGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGT GGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATG GTGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTG TGGATGGTGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGG TGACTGTGGATGGCGGTT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
USP12_chr13_27061156_27176811	27063935	A A	AGGAGAGG others(837): Show AGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGAAGGA AGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAGTAAA GGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGGGAGG GGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGG AGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAG AAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAG AGGGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGG GAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGA GGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAG GGAGGGAGAAAGAGAGGGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGG AGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAG AGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGG AGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAG GGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGGAGGAAGGAGGGAGGGGAGGGAAGGGAGGGAGGAAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0151 a0001c0001t0006g0151	1	113	0.0088	844	c.53 others(855): Show c.5347_*5348insCCCTCCCTTCCTCCCTCCCTTCCCTCCCCTCCCT CCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTT CCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCC TCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTC CCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTCCCTCCCTCCCTCTC TTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTC CCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCC TCTCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCT CCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTC TCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTC TCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCTCTCTTTCACCCTCCC TTCCTTTCTCCTTTACTCCCTTCCTCCATCCCCTCCCCTCCCCTCCCTTC CCTCTCTCTCTTCCTTCCTTCCTTCCTCTCCCTCCCTTCTTTCCTCCCTC CCTCCTCTCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2220		chr13	TogoVar
USP12_chr13_27061156_27176811	27063935	A A	AGGAGAGG others(837): Show AGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGAAGGA AGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAGTAAA GGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGGGAGG GGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGG AGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGGGAGGGAGGGAG AAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAG AGGGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGG GAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGA GGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAG GGAGGGAGAAAGAGAGGGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGG AGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAG AGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGG AGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAG GGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGGAGGAAGGAGGGAGGGGAGGGAAGGGAGGGAGGAAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0067 a0001c0001t0006g0067	1	113	0.0088	844	c.53 others(855): Show c.5347_*5348insCCCTCCCTTCCTCCCTCCCTTCCCTCCCCTCCCT CCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTT CCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCC TCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTC CCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTCCCTCCCTCCCTCTC TTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTC CCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCC TCTCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCT CCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCCCCTCCCTCCCTCCTCCCTCCCTCCCTC TCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTC TCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCTCTCTTTCACCCTCCC TTCCTTTCTCCTTTACTCCCTTCCTCCATCCCCTCCCCTCCCCTCCCTTC CCTCTCTCTCTTCCTTCCTTCCTTCCTCTCCCTCCCTTCTTTCCTCCCTC CCTCCTCTCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2220		chr13	TogoVar
YBEY_chr21_46281342_46302751	46294192	A A	AACTCTAG others(837): Show AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGTCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCTGTGCCCGGGACTCAGT GGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCT AGATTGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	298	0.0034	844	c.340 others(861): Show c.340-1915_340-1914insGGACAGCCACACAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG TCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCT GTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACGCAAGTTAAACTCTAGATTGGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCC ACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(837): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCC CCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCC CCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	100	0.0100	844	c.-10 others(861): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTC CCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCC TTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTT CCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCC CCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCT TCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCC TTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZFPM1_chr16_88448280_88542031	88460942	T T	TGACCGAG others(837): Show TGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGAGGGGCGG GAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCTGGTGATGACCGA GGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCT GGTGAGGACCGAGGGGCGGGAGGCCTGGTGAGGACCCAGGGGCAGAAGGT CTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGG CGGGAGACCTGGTGAGGACCGAGGGGCGGGAGGCCTGGTGATGACCGAGG GGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGAGGGGCGGGAGGCCTGG TGAGGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGA GGCCTGGTGATGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGG GGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCTGG TGATGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGAGGGG CGGGAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGTGATGAC CGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGG CCTGGTGAGGACCGAGGGGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGG AGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCTGGTG AGGACCGAGGGGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGTGGGGCG GGAGGCCTGGTGATGACCGAGGGGTGGGGCGGGAGGCCTGGTGAG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0008 a0002c0002t0019g0008	1	151	0.0066	844	c.40+ others(859): Show c.40+7336_40+7337insCGGGGCGGGAGGCCTGGTGATGACCGAGGG GCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGT GAGGACCGAGGGGCGGGAGGCCTGGTGAGGACCCAGGGGCAGAAGGTCTG GTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGG GAGACCTGGTGAGGACCGAGGGGCGGGAGGCCTGGTGATGACCGAGGGGT GGGGCGGGAGGCCTGGTGAGGACCGAGGGGAGGGGCGGGAGGCCTGGTGA GGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGGC CTGGTGATGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGA GGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCTGGTGA TGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGAGGGGCGG GAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGTGATGACCGA GGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCT GGTGAGGACCGAGGGGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGAGG GGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGG ACCGAGGGGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGA GGCCTGGTGATGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGG GGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGAGGGGCGGGAGGCCTGG TGAGGACCGAGGGG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACAP3_chr1_1287391_1312930	1289848	T T	TCTCTGCT others(838): Show TCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCCCC GTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCC GTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTG TCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCC CGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTC TGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCT CCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTG TCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTG CCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	247	0.0040	845	c.37 others(856): Show c.3715_*3716insGGCAGAGACACGGGGGACGGGGCAGAGACACGGG ACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGGG CAGAGACACGGGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGG ACGGAGCAGGGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGA CACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACG GGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGG GGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGG ACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGG GACACGGGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGGGAC GGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCA GAGACACGGGACGGGGCAGAGACACGGGGGACGGAGCAGGGACACGGGGG ACGGAGCAGAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2542		chr1	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(838): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCTGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTTAAAAAA AAAAAAAAAAATACATATATATATATATATTTAAAATTCCTTGTAAAAAG TGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCA AAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01993.hp1 NA18960.hp1 HG00642.hp1 HG01993.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0121 a0001c0001t0001g0189 a0001c0001t0001g0190	3	29	0.1034	845	c.94+ others(860): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATGTATTTTTTTTTTTTTTTTTAAATATATATTCTTTTTTTTTAAACGGA GTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACT GCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAGGAGGGAGAGGC AGGGACTAGGTGGGACTACAGGCACACGCCTGGCTAATTTTTTTTTTTTT TTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGGCTGGT CTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCCTCCCAAAGTG CTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGATAAATATATTTTTA AAGTAGCAAACCAATCATTATGGGAAAGAATCGGTAATTTGGTTGACTTC TGCACCGTTATTTTATAGCTAAGTATTGTATTTATTTTTGTTTCCACATG GGAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTTTCTTTTTCTTTTC TTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTCTCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTTAGTAGAGACG GGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(838): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGG GCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGG GCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGG GCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCC CACCCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0023 a0001c0004t0001g0023	1	299	0.0033	845	c.36 others(856): Show c.3611_*3612insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCC CGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCC GACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCG GCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCC GACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCG GCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCC GACGCGTGCGGCCCCCACCCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGGC others(838): Show ATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGGTGAGTAGACGGTCGGCG TGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCG TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCG TGCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTC GGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGAC GGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGG GGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0020 a0001c0032t0020	a0001c0032t0020g0265 a0001c0032t0020g0265	1	103	0.0097	845	c.300 others(862): Show c.300-9268_300-9267insAGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGT GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGT GTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGG CGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC57_chr17_82096470_82217842	82215628	G G	GCACTGCA others(838): Show GCACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCC CCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTT CCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACA CTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCC TGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTG CAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCC CCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCT GCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCA GCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCT TCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCA CACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCC CTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCC CTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0096 a0003c0004t0003g0096	1	248	0.0040	845	c.-28 others(856): Show c.-2853_-2852insTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGG AAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGG GGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTG TGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAG GAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTG CTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAG GGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTG CAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGC AGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGA GGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGT GTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGA AGGAGGGGGAGGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGG GTGCTGCAGTG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2787		chr17	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(838): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAA AGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGT TATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAA TTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGA AAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGAC AAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAA TATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTG GACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGT TTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGA AGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATA TATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATATATATATATATATA TATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGG TTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	38	0.0263	845	c.248 others(862): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAA CTTCTTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGA ACATTCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGA TGAAGAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACAC CACAAAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATG ACAGATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAA AAGATTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGT GAAATACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTG AGAATGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCT AGAGTAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGA ACCTCCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTC AAATAATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAAT ATTCATGGGCAATACATCCATACTACATATATATATATATATATATATAT ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCC CATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(838): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCT TCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCT CCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTC TTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCT CCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCC ACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTC TTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18950.hp2 NA20752.hp1 HG02027.hp2 NA18950.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0009 a0001c0002t0002 a0001c0002t0009	a0001c0002t0002g0231 a0001c0002t0002g0234 a0001c0002t0009g0246 a0001c0002t0002g0231 a0001c0002t0002g0234 a0001c0002t0009g0246	3	4	0.7500	845	c.162 others(866): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCT CCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCC CTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCC CCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTT CCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCC TCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCC CTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTT CCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCC TCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(838): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTT CCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTCCCT CTTCCTCCCCCTCTCCCTCTTCCTCCCCTCCTCCTCCCCCTCTTCCTCCT CCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCC ACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTC TTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0244 a0001c0002t0009g0244	1	2	0.5000	845	c.162 others(866): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCT CCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCC CCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCC CCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCT TCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCC TCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCC CTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTT CCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCC TCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(838): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA GGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAA GGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGAAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	171	0.0058	845	c.85- others(862): Show c.85-12970_85-12969insTTCCTGCCTTTCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTC CCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT TCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT CCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGC CCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTC CTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(838): Show GCTATAACCACCACCACCACCACTATAACCATCACCACCATCACCACTAT AACCACCACTACCACCACCACCATTATAACCATCACCACCACCACTATAA CCACCATCATCATCACCACCACTACCACTACTTTAACCATTACCACCATT ACTACTATAACCACCACCACCACCACTATAATCATTACCACTATAACCAC CACTACCACCACCACCACCATTATAACCATCACCACCACCACTATAACCA CCATCATCACCACCACCACTACCACTACTATAACCATTACCACCATCACT ACTATAACCACCACCACCACCACCACCACCACTATAATCATTACCACTAT AACCACCACCACCACCACTACCACTACTATAACCATCACCACCATCACTG CTATAATCACCACCACCACCACCACCACCACTATAATCATTACCACTATA ACCACCACTACCACCACCACCACTATGATAACCATCACCAACACCACTAT AACCACCAATGCCAAGAAGTGTTCATAGCAGGAGTCATAAACACAGGACC AACCAGGGATAGGACCAACCAGGACCAACCAGGACCAACACCACCACCAC TACTACCACTACTATAACCATCACCACCATCACTGCTATAATCACCACCA CCACCACCATCACTATAATCATCACCACCATCACCACTATAACCACCACC ACCACCACCACCACCAGTTATAACCATCACCACCACCACTATAACCACCA TCATCATCACCACCACTACCACTACTATAACCATTACCACCATTACTACT ATAACCACCACCACCACCACCACTGTTATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18939.hp1 NA18941.hp2 others(4): Show HG02074.hp1 NA18939.hp1 NA18941.hp2 NA18945.hp1 NA18965.hp2 NA18992.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 a0001c0003t0003	a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0104 others(4): Show a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0104 a0001c0001t0008g0227 a0001c0001t0008g0228 a0001c0003t0001g0032 a0001c0003t0003g0033	7	89	0.0787	845	c.724 others(864): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACAGTG GTGGTGGTGGTGGTGGTTATAGTAGTAATGGTGGTAATGGTTATAGTAGT GGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTA TAACTGGTGGTGGTGGTGGTGGTGGTGGTTATAGTGGTGATGGTGGTGAT GATTATAGTGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGA TGGTTATAGTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCT GGTTGGTCCTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAAC ACTTCTTGGCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTG GTGGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGT GGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATAGTAGTGG TAGTGGTGGTGGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTG GTGGTGGTGGTGGTTATAGTAGTGATGGTGGTAATGGTTATAGTAGTGGT AGTGGTGGTGGTGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAA TGGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTG GTGGTGGTGGTTATAGTAGTAATGGTGGTAATGGTTAAAGTAGTGGTAGT GGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGG TGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTG GTGGTGGTGGTGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DLEC1_chr3_38034208_38129025	38084509	A A	AGTAGTGG others(838): Show AGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTAGTAGTAGTGG TAGTAGTAGTAGTGGGGGGGTGGTAGTAGTGGTAGTAGTAGTAGTGGTAG TAGTAGTAGTGGTGGTGGTAGTGGTGGTGGTAGTAGTAGTGGTGGTAGTA GTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGGTAGTAGTAGTAGT GGTTGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAG TGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGGTGGTAGTAGTAGTG GTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTGGTGGTGGT GGTGGTGGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTGGTAGTAGTAG TAGTGGTTGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTA GTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGT GGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTGGTGG TGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTGGTAGTA GTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTAGTGGTTGT GGTAGTAGTAGTGGTAGTAGTAGTGGTGGTGGTGGTAGTGGTGGTAGTAG TGGTAATAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTGGTAGTAGTG GTAGTAGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTAGTGGT GGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0262 a0001c0002t0001g0262	1	298	0.0034	845	c.126 others(862): Show c.1261+269_1261+270insGGTAGTAGTAGTAGTGGTGGTGGTAGTA GTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGGGGGGTGGTAGTAGTGGTA GTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTGGTGGTGGTAGT AGTAGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGG TGGTAGTAGTAGTAGTGGTTGTGGTGGTAGTAGTAGTGGTAGTAGTAGTA GTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGT GGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAG TAGTAGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTAGTAGTG GTGGTGGTAGTAGTAGTAGTGGTTGTGGTGGTAGTAGTAGTGGTAGTAGT AGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGG TAATAGTAGTAGTGGTGGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTG GTAGTAGTAGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTAGT AGTGGTGGTGGTAGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGG TAGTAGTAGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTGGTGGTGGTG GTAGTGGTGGTAGTAGTGGTAATAGTGGTGGTGGTAGTAGTAGTAGTGGT TGTGGTGGTAGTAGTGGTAGTAGTGGTGGTGGTGGTGGTGGTAGTGGTGG TGGTGGTAGTAGTGGTGGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTA GTAGTGGTGGTGGTAGT	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	7/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
DPP6_chr7_154047398_154899285	154779089	C C	CTCTACCA others(838): Show CTCTACCACCACCACCACCACCATCACCTCCACCACCACCACCACAACCA CCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCATCACT TCCACCACCACCACCACAACTACCCCCGCCATCACCTCCATCACCTCCAC AACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCACCACTA TCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCACCCCCC CCATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCCATCA CCTCCACAATCTCCACCGCCAGCATCACCACCATCACCACCACCACCACC ACAACTACCCCCACCATCACCTCCATCACCTCCACAACCTCTACCACCAC CACCACCATCATCACCTCCACCACCATCACCACTATCACCACCAACCCAT CATCACCACCTCCACCACCACCACCATCACCCCCCCATCACCTCCACCAC CACCACCACAACCACCCCACCATCACCTCCATCACCTCCACAATCTCCAC CGCCAGCATCACCACCATCACCACCACCACCACCACAACTACCCCCACCA TCACCTCCATCACCTCCACGACCACCACCACCATCATCACCTCCACCACC ATCACCACTATCACCACCAACCCATCATCACCACCTCCACCACCACCACC ATCACCCCCACCGTCACCTCCACCACCACCTCCATTACCTCCACAACTTC TACCACCACCACCCCCACCACCACCAGCACCACTATCACCACTATCACCA CCACCCCCACCATCACCTCCACACCACCTCCATTACCTCCACAATT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0015 a0002c0005t0015	a0002c0005t0015g0011 a0002c0005t0015g0011	1	2	0.5000	845	c.113 others(864): Show c.1136+6165_1136+6166insACCATCACCTCCACCACCACCACCAC AACCACCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCA TCACTTCCACCACCACCACCACAACTACCCCCGCCATCACCTCCATCACC TCCACAACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCAC CACTATCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCAC CCCCCCCATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTC CATCACCTCCACAATCTCCACCGCCAGCATCACCACCATCACCACCACCA CCACCACAACTACCCCCACCATCACCTCCATCACCTCCACAACCTCTACC ACCACCACCACCATCATCACCTCCACCACCATCACCACTATCACCACCAA CCCATCATCACCACCTCCACCACCACCACCATCACCCCCCCATCACCTCC ACCACCACCACCACAACCACCCCACCATCACCTCCATCACCTCCACAATC TCCACCGCCAGCATCACCACCATCACCACCACCACCACCACAACTACCCC CACCATCACCTCCATCACCTCCACGACCACCACCACCATCATCACCTCCA CCACCATCACCACTATCACCACCAACCCATCATCACCACCTCCACCACCA CCACCATCACCCCCACCGTCACCTCCACCACCACCTCCATTACCTCCACA ACTTCTACCACCACCACCCCCACCACCACCAGCACCACTATCACCACTAT CACCACCACCCCCACCATCACCTCCACACCACCTCCATTACCTCCACAAT TTCTACCACCACCACCACC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DSC1_chr18_31124236_31167856	31152938	T T	TTGCAAGT others(838): Show TTGCAAGTGGTGTTTCTTTTTTTATTTTTTTTTATTTTTTTATTTTTTTA TTTTTTTTTAATTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTG CACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGC TGCACCCACTAACTCGTCATCTAGCCTTAGGTATATCTCCCAATGCTATC CCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCC TTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAA TATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGG TTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTT ATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCA GTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGA ATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGAT TTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGG TATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATG GTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCT CCACATCCTCCCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCAT TCTAACTGGTGTGAGATGATATCTCATAATGGTTTTGATTTGCATTTCTC TGATGGCCAGTGATGATGAGCTCTGAGCTACGGGAGGACATTCAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0005 a0003c0016t0005	a0003c0016t0005g0118 a0003c0016t0005g0118	1	245	0.0041	845	c.627 others(862): Show c.627+1835_627+1836insTTTGAATGTCCTCCCGTAGCTCAGAGCT CATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCATTATGAGATAT CATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAG GTGCTGGGGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGG ACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGG GATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTAT ATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTA TGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAA TGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCAT GGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGA CATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAA AAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAG ATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGG GTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAAGGCTAGAT GACGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAAA AAAAAAATTAAAAAAAAATAAAAAAATAAAAAAATAAAAAAAAATAAAAA AAGAAACACCACTTGCA	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	5/15			chr18	TogoVar
DSC1_chr18_31124236_31167856	31152938	T T	TTGCAAGT others(838): Show TTGCAAGTGGTGTTTCTTTTTTTATTTTTTTTTATTTTTTTATTTTTTTA TTTTTTTTTAATTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTG CACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGC TGTACCCACTAACTCGTCATCTAGCCTTAGGTATATCTCCCAATGCTATC CCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCC TTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAA TATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGG TTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTT ATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCA GTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGA ATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGAT TTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGG TATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATG GTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCT CCACATCCTCCCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCAT TCTAACTGGTGTGAGATGATATCTCATAATGGTTTTGATTTGCATTTCTC TGATGGCCAGTGATGATGAGCTCTGAGCTACGGGAGGACATTCAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02895.hp2 HG02897.hp1 others(3): Show HG02717.hp2 HG02895.hp2 HG02897.hp1 HG03195.hp2 HG03453.hp1 NA20300.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0015 a0001c0008t0001g0114 a0001c0008t0001g0115 others(2): Show a0001c0008t0001g0015 a0001c0008t0001g0114 a0001c0008t0001g0115 a0001c0008t0001g0116 a0001c0008t0001g0117	6	250	0.0240	845	c.627 others(862): Show c.627+1835_627+1836insTTTGAATGTCCTCCCGTAGCTCAGAGCT CATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCATTATGAGATAT CATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAG GTGCTGGGGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGG ACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGG GATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTAT ATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTA TGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAA TGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCAT GGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGA CATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAA AAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAG ATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGG GTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAAGGCTAGAT GACGAGTTAGTGGGTACAGCGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAAA AAAAAAATTAAAAAAAAATAAAAAAATAAAAAAATAAAAAAAAATAAAAA AAGAAACACCACTTGCA	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	5/15			chr18	TogoVar
FMN2_chr1_240086883_240480187	240185174	T T	TTCCCCTT others(838): Show TTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCC TATACCTGCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCT CTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCT CCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTT CTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTT CTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCT TCCCCTTCTCTTTCTCCCTCCTACACCTTTCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTC TTTCTCCCTCCTATACCTTTCCCCTTCTCTTTCTCCCTCCTATACC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0005 a0005	a0005c0035 a0005c0035	a0005c0035t0007 a0005c0035t0007	a0005c0035t0007g0024 a0005c0035t0007g0024	1	161	0.0062	845	c.193 others(864): Show c.1931-3032_1931-3031insCCCCTTCTCTTTCTCCCTCCTATACC TTCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCT CCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTT CTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCT TCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTACACCT TTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTTCCCCTTCT CTTTCTCCCTCCTATACCT	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
JAG2_chr14_105135995_105173776	105162619	A A	AGCACTGC others(838): Show AGCACTGCATGGCCCAGCACACCCCAAGGTCCAGGGCACCTTAAAGCCCA GGGTACCCCAGGTCCAGGGCACCCCAAAGCCCAGAGTATCCCACAGCCCA GGGCACTGCATGGCCCAGCATACTCCAAGACCCAGGGCACCCCAGTTCCA GGGCACCCCAAAGCCCAGGGTACCCCAGAGCCCCAAAGCACTGCATGGCC CAGCACACCCCAAGGTCCAGGGCACCTTAAAGCCCAGGGTACCCCAGGTC CAGGGCACCCCAAAGCCCAGAGTATCCCACAGCCCAGGGCACTGCATGGC CCAGCATACTCCAAGACCCAGGGCACCCCAGTTCCAGGGCACCCCAAAGC CCAGGGTACCCCAGAGCCCCAAAGCACTGCATGGCCCAGCACACCCCAAG GTCCAGGGCACCTTAAAGCCCAGGACACCTCAGGTCCAGGGCACCCCAAA GCCCAGAGTATCCCACAGCCCAGGGCACTGCATGGCCCAGCATACTCCAA GACCCAGGGCACCCCAGTTCCAGGGCACCCCAAAGCCCAGGGTACCCCAG AGCCCCAAAGCACTGCATGGCCCAGCACACCCCAAGGTCCAGGGCACCTT AAAGCCCAGGGTACCCCAGGTCCAGGGCACCCCAAAGCCCAGAGTATCCC ACAGCCCAGGGCACTGCATGGCCCAGCATACTCCAAGACCCAGGGCACCC CAGTTCCAGGGCACCCCAAAGCCCAGGGTACCCCAGAGCCCCAAAGCACT GCATGGCCCAGCACACCCCAAGGTCCAGGGCACCTTAAAGCCCAGGGTAC CCCAGGTCCAGGGCACCCCAAAGCCCAGAGTATCCCACAGCCCAGG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	362	0.0028	845	c.418 others(862): Show c.418-4857_418-4856insCCTGGGCTGTGGGATACTCTGGGCTTTG GGGTGCCCTGGACCTGGGGTACCCTGGGCTTTAAGGTGCCCTGGACCTTG GGGTGTGCTGGGCCATGCAGTGCTTTGGGGCTCTGGGGTACCCTGGGCTT TGGGGTGCCCTGGAACTGGGGTGCCCTGGGTCTTGGAGTATGCTGGGCCA TGCAGTGCCCTGGGCTGTGGGATACTCTGGGCTTTGGGGTGCCCTGGACC TGGGGTACCCTGGGCTTTAAGGTGCCCTGGACCTTGGGGTGTGCTGGGCC ATGCAGTGCTTTGGGGCTCTGGGGTACCCTGGGCTTTGGGGTGCCCTGGA ACTGGGGTGCCCTGGGTCTTGGAGTATGCTGGGCCATGCAGTGCCCTGGG CTGTGGGATACTCTGGGCTTTGGGGTGCCCTGGACCTGAGGTGTCCTGGG CTTTAAGGTGCCCTGGACCTTGGGGTGTGCTGGGCCATGCAGTGCTTTGG GGCTCTGGGGTACCCTGGGCTTTGGGGTGCCCTGGAACTGGGGTGCCCTG GGTCTTGGAGTATGCTGGGCCATGCAGTGCCCTGGGCTGTGGGATACTCT GGGCTTTGGGGTGCCCTGGACCTGGGGTACCCTGGGCTTTAAGGTGCCCT GGACCTTGGGGTGTGCTGGGCCATGCAGTGCTTTGGGGCTCTGGGGTACC CTGGGCTTTGGGGTGCCCTGGAACTGGGGTGCCCTGGGTCTTGGAGTATG CTGGGCCATGCAGTGCCCTGGGCTGTGGGATACTCTGGGCTTTGGGGTGC CCTGGACCTGGGGTACCCTGGGCTTTAAGGTGCCCTGGACCTTGGGGTGT GCTGGGCCATGCAGTGC	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	2/25			chr14	TogoVar
JUND_chr19_18274694_18286622	18284532	T T	TAATAATA others(838): Show TAATAATAATAATAATAATAATAATAAAGACCTGGCCGTGCGCGATGGCT CACTCCTATAATCCCAGCACTTTGGGAGTCCAAAGCGGGTGGATCATGAG GTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTAC TAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAATGCCTGTAGTCCCTG CTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGGCGGAGG CTACAGTGAGCCAAGATTACGCCACTGCACTGCAGCCTGGGCAAAAGAGT AAGAATCCGTCTCAATAATAATAATAATAATAATAATAATAATGATAGGC CGGGCGCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGAGGCTGAGGC GGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGCCAGCATGGT GAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTGTGGTGGTGC ATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATCGCTTGA ACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCAGAGGTTGCGG TGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAATACAAAATGA GCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGTGAGCCGAGAT TGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCTGCCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG01074.hp1 others(16): Show HG00323.hp1 HG00733.hp1 HG01074.hp1 HG01123.hp2 HG01168.hp2 HG01256.hp2 HG01981.hp2 HG02004.hp1 HG02717.hp1 HG03239.hp2 HG03688.hp1 HG03688.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0003 a0001c0001t0016 a0001c0001t0029 others(2): Show a0001c0001t0003 a0001c0001t0016 a0001c0001t0029 a0001c0001t0031 a0005c0005t0003	a0001c0001t0003g0000 a0001c0001t0016g0000 a0001c0001t0029g0000 others(2): Show a0001c0001t0003g0000 a0001c0001t0016g0000 a0001c0001t0029g0000 a0001c0001t0031g0000 a0005c0005t0003g0000	19	329	0.0578	845	c.-30 others(856): Show c.-3049_-3048insGTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGC GATCTTGGCTCACCGCAACCTCTGGCACGATCTTGGCTCACTGCAACCTC TGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTGG GATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTGG AGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTCA GGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTATTATTG AGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTT GGCTCACTGTAGCCTCCGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAG CCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATT TTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCT TGATCTCCTGACCTCATGATCCACCCGCTTTGGACTCCCAAAGTGCTGGG ATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTA TTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2911		chr19	TogoVar
JUND_chr19_18274694_18286622	18284535	T T	TAATAATA others(838): Show TAATAATAATAATAATAATAATAATAAAGACCTGGCCGTGCGCGATGGCT CACTCCTATAATCCCAGCACTTTGGGAGTCCAAAGCGGGTGGATCATGAG GTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTAC TAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAATGCCTGTAGTCCCTG CTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGGCGGAGG CTACAGTGAGCCAAGATTACGCCACTGCACTGCAGCCTGGGCAAAAGAGT AAGAATCCGTCTCAATAATAATAATAATAATAATAATAATAATGATAGGC CGGGCGCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGAGGCTGAGGC GGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGCCAGCATGGT GAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTGTGGTGGTGC ATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATCGCTTGA ACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCAGAGGTTGCGG TGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAATACAAAATGA GCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGTGAGCCGAGAT TGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCTGCCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 NA20300.hp1 HG02055.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	2	392	0.0051	845	c.-30 others(856): Show c.-3052_-3051insGTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGC GATCTTGGCTCACCGCAACCTCTGGCACGATCTTGGCTCACTGCAACCTC TGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTGG GATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTGG AGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTCA GGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTATTATTG AGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTT GGCTCACTGTAGCCTCCGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAG CCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATT TTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCT TGATCTCCTGACCTCATGATCCACCCGCTTTGGACTCCCAAAGTGCTGGG ATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTA TTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2914		chr19	TogoVar
LAMC1_chr1_183018420_183150592	183149568	T T	TCTCCTCA others(838): Show TCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAG CTCACACCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCTGCTC ACACACCACACAGCCCACACCCCTCTCCTCCTCACACACCACACAGCTCA CACCCCTCTCCTGCTCACACACCACACAGCTCACACCCCTGTCCTCCTCA CACACCACACAGCCCACACCCCTCTCCTCCTCACACCACAGAGCCCACAC CCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACA CAGCCCACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCCT CACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACA CCCCTCTCCTCCTCACACCACACAGCCCACACCCCTCTCCTGCTCACACA CCACACAGCCCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCC CTCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACACCAC ACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCCCTGTCCT CCTCACACACCACACAGCCCACACCCCTCCTCACACACCACACAGCTCAC ACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACC ACACAGCCCACACCCCTCTCCTGCTCACACACCACACAGCCCACACCCCT CTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACAC AGCCCACACCCCTCTCCTCACACACCAGACAGCTCACACCCCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0058 a0001c0002t0002g0058	1	204	0.0049	845	c.67 others(856): Show c.6778_*6779insCTCCTCACACACCACACAGCTCACACCCCTCTCC TCACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCCCAC ACCCCTCTCCTGCTCACACACCACACAGCCCACACCCCTCTCCTCCTCAC ACACCACACAGCTCACACCCCTCTCCTGCTCACACACCACACAGCTCACA CCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACA CCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTC TCCTCACACACCACACAGCCCACACCCCTGTCCTCCTCACACACCACACA GCCCACACCCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACAC ACCACACAGCTCACACCCCTCTCCTCCTCACACCACACAGCCCACACCCC TCTCCTGCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACACC ACACAGCTCACACCCCTCTCCTCACACACCACACAGCCCACACCCCTCTC CTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGC CCACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCACA CACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACACCCC TCTCCTCCTCACACCACACAGCCCACACCCCTCTCCTGCTCACACACCAC ACAGCCCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCT CCTCACACACCACACAGCCCACACCCCTCTCCTCACACACCAGACAGCTC ACACCCCTCTC	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3977		chr1	TogoVar
MAML2_chr11_95971598_96348195	96089966	C C	CCATTGGT others(838): Show CCATTGGTGTGCTTGGGTCCTAGAAACTCGGGTGGGGACTAAGAGGTCAG GAATATGGTTTATAGTTGCTGATATCAGCAGTATGTCCGGAAACAGACCA GAGGATGTTGGAGGTGGCAGGGAGGCTCCCAGAAAAGGACTGATGGGGCA CCAAAGATATATGTTTCTACGTGGTGGCTCGTGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGAGGGCGGATCACTAGCTCAGGAATTCTAGACCAGCA TGGCCAACTTGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCA GGCTTGGTGATGCCCGCCTGTAATCCGAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCTGGGAAGTGGAAGTTGCAGCGAGCCGAGATCAAG CCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAA AAAAAAAGATATATATTTCCTTTTGTAAATTGTTTATTTTGGCTAACTCC ATAATGTTTACCCTCAGGAAGGCTAACAGTCACACAGATATGTATGTATG TATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTATATAAA ATTTCTTTAGCGTCTCTAAAGAATAGAGTTTAGGATATGTTTTTATCCCA AAGGACTTAATCTACTATGTAGATTATGTAAGTAGGGCTCAACATTAGAA GAATATTCTTTTTAAGAATTCCACAATGATCTAGGACTCCAGCAAATCCT ACCTGTGAGCTGTAGATCCTAGTGGCTGAAAGTATAGGCTTCAAAGTAGA TCATCAGAATCCTGCAGCTGCTACTCATTATCTGTGCAAACTTGGG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0057 a0001c0001t0013g0057	1	123	0.0081	845	c.213 others(864): Show c.2139+1925_2139+1926insCCCAAGTTTGCACAGATAATGAGTAG CAGCTGCAGGATTCTGATGATCTACTTTGAAGCCTATACTTTCAGCCACT AGGATCTACAGCTCACAGGTAGGATTTGCTGGAGTCCTAGATCATTGTGG AATTCTTAAAAAGAATATTCTTCTAATGTTGAGCCCTACTTACATAATCT ACATAGTAGATTAAGTCCTTTGGGATAAAAACATATCCTAAACTCTATTC TTTAGAGACGCTAAAGAAATTTTATATACACACACATACACACACACACA CACACACACACACACACATACATACATACATATCTGTGTGACTGTTAGCC TTCCTGAGGGTAAACATTATGGAGTTAGCCAAAATAAACAATTTACAAAA GGAAATATATATCTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCGCTGCAACTTCCACTT CCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGATTA CAGGCGGGCATCACCAAGCCTGGCTAATTTTTATATTTTTAGTAGAGATG GGGTTTCACCAAGTTGGCCATGCTGGTCTAGAATTCCTGAGCTAGTGATC CGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCAC GTAGAAACATATATCTTTGGTGCCCCATCAGTCCTTTTCTGGGAGCCTCC CTGCCACCTCCAACATCCTCTGGTCTGTTTCCGGACATACTGCTGATATC AGCAACTATAAACCATATTCCTGACCTCTTAGTCCCCACCCGAGTTTCTA GGACCCAAGCACACCAATG	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar

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