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
TTLL8_chr22_50013575_50063298	50029267	A A	ATCCTGAA others(727): Show ATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGA AGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCC ACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACC CTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAA AGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCC ATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACAC CGTCCTAAAGACCCCCACACACCCTCGTAAAGACCCCATCACACCATCCT GAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACC CCACACACACTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACAC ACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACACACTC GTAAAGACCCCATCACACCATCCTGAAGACCCCACACACACTCGTAAAGA CCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATC ACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGT CCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGAAG ACCCCACACACACTCGTAAAGACCCCATCACACCG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0087 a0003c0003t0001g0087	1	94	0.0106	734	c.225 others(753): Show c.2251+1162_2251+1163insCGGTGTGATGGGGTCTTTACGAGTGT GTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGG GTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCA GGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGT GTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGATGGTGTGATGG GGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTT TACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAG TGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGT GGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGGTC TTTAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGA CGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTG ATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGT CTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACG AGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGT GTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGT CTTCAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(727): Show TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATTATTATATATAATAATATAATATATATTATTATAT ATTATTATATATAATAATATAATATATATTATTATATATAATTATATATA ATAATATATATTATATTATTATATATAATTATATATAATAATATAATATA TATTATTATATATAATTATATATAATAATATATATTATATTATTATATAT AATAATATATAATAATATATATTATATTATTATATATAATTATATATAAT AATATAAATATATTATTATATATTATTATATATAATAATATAAATATATT ATTATATATTATTATATATAATAATATAATATATATTATATATTATTATA TATAATAATATAATATATATTATATAATTATATATAATAATATAATATAT ATTATATATTATTATATATAATAATATAATATATATTATTATATATTATT ATATATAATAATATAATATATATTATTATATATAATAATATAATATATAT TATTATATATAATAATATAATATATATTATTATATATAATAATATAATAT ATATTATTATATATTATTATATATAATAATATAATATATATTATTATATA TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATTATTATATATAATAATATAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03490.hp2 HG00639.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0187 a0001c0001t0001g0188	2	84	0.0238	734	c.392 others(751): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATATATTATATTATTATATATAATAATATATA ATAATATATATTATATTATTATATATAATAATATATATTATATTATTATA TATAATAATATATATTATATTATTATATATAATAATATATATTATATTAT TATATATAATAATATATAATAATATATATTATATTATTATATATAATAAT ATATAATATATATTATATTATTATATATAATTATATAATATATATTATAT TATTATATATAATAATATATAATATATATTATATTATTATATATAATAAT ATATAATAATATATTTATATTATTATATATAATAATATATAATAATATAT TTATATTATTATATATAATTATATATAATAATATAATATATATTATTATA TATTATTATATATAATAATATAATATATATTATTATATATAATTATATAT AATAATATATATTATATTATTATATATAATTATATATAATAATATAATAT ATATTATTATATATAATTATATATAATAATATATATTATATTATTATATA TAATAATATATAATAATATATATTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
ZBED6_chr1_203790623_203859124	203839978	G G	GTTTTTAG others(727): Show GTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAAC TCCTCACCTCAGGTGATCTGCCCGCCTCCGGCCTCCCAAAGTGTTGGGAT TATAGGCGTGAGCCACCACCCCTGGCATGTTTTAAGCTTTCCAGAGTACT CTAGGGAATCTATGATTGACATAAATCTGTTCTGTGGAGAAAAAAATTTT AACTTTTTTTTTTTTTTTAAATACAGAGTCTCTCTCTGTGGCCCAGGCTG GAGTACAGTGGTGCAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTC AAGTAATTCTCCTGCCTCAGCCTCCCTAGTAGCTAGAATTACAAGTACAT GCCACCATTCCCGGCTAATTTTTGTATTTTTAGTAGAAACGAGGTTTTAC CATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTTATCCACCTGC CTTGGCCTCCCAAAGTGCTGGGATTACAGATGTATGCCAACATGCGCAAC AAACGTGTATTTAACTTGTAAAAAGTTTCTGTTCAACTTTTGATTTTTTA AAATCTTTCTTTTTATTTTTTTGAGATAGAGTCTCACTCTTGTCACCCAG GTTGGAGTCCAGTGGCACGATCTCAGCTCATTGCAACCTCTACCTCCCAG GTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGC ACCTGCCACCATGCCTGGCTAATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03239.hp1 NA18956.hp1 others(3): Show HG02056.hp1 HG03239.hp1 NA18956.hp1 NA18989.hp1 NA19009.hp2 NA19089.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0010 a0005c0006t0010	a0005c0006t0010g0360 a0005c0006t0010g0361 a0005c0006t0010g0362 others(3): Show a0005c0006t0010g0360 a0005c0006t0010g0361 a0005c0006t0010g0362 a0005c0006t0010g0363 a0005c0006t0010g0364 a0005c0006t0010g0365	6	353	0.0170	734	c.36 others(753): Show c.3673-284_*3673-283insCGAACTCCTCACCTCAGGTGATCTGC CCGCCTCCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCCACCACCC CTGGCATGTTTTAAGCTTTCCAGAGTACTCTAGGGAATCTATGATTGACA TAAATCTGTTCTGTGGAGAAAAAAATTTTAACTTTTTTTTTTTTTTTAAA TACAGAGTCTCTCTCTGTGGCCCAGGCTGGAGTACAGTGGTGCAATCTTG GCTCACTGAAACCTCTGCCTCCCGGGTTCAAGTAATTCTCCTGCCTCAGC CTCCCTAGTAGCTAGAATTACAAGTACATGCCACCATTCCCGGCTAATTT TTGTATTTTTAGTAGAAACGAGGTTTTACCATGTTGGCCAGGCTGGTCTC AAACTCCTGACCTCAGGTTATCCACCTGCCTTGGCCTCCCAAAGTGCTGG GATTACAGATGTATGCCAACATGCGCAACAAACGTGTATTTAACTTGTAA AAAGTTTCTGTTCAACTTTTGATTTTTTAAAATCTTTCTTTTTATTTTTT TGAGATAGAGTCTCACTCTTGTCACCCAGGTTGGAGTCCAGTGGCACGAT CTCAGCTCATTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTCCTGCCT CAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCTGGCTA ATTTTTTTTTTTTTTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAG GCTGGTCT	ZBED6	ENSG00000257315.4	transcript	ENST00000550078.3	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZC3H11A_chr1_203790623_203859124	203839978	G G	GTTTTTAG others(727): Show GTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAAC TCCTCACCTCAGGTGATCTGCCCGCCTCCGGCCTCCCAAAGTGTTGGGAT TATAGGCGTGAGCCACCACCCCTGGCATGTTTTAAGCTTTCCAGAGTACT CTAGGGAATCTATGATTGACATAAATCTGTTCTGTGGAGAAAAAAATTTT AACTTTTTTTTTTTTTTTAAATACAGAGTCTCTCTCTGTGGCCCAGGCTG GAGTACAGTGGTGCAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTC AAGTAATTCTCCTGCCTCAGCCTCCCTAGTAGCTAGAATTACAAGTACAT GCCACCATTCCCGGCTAATTTTTGTATTTTTAGTAGAAACGAGGTTTTAC CATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTTATCCACCTGC CTTGGCCTCCCAAAGTGCTGGGATTACAGATGTATGCCAACATGCGCAAC AAACGTGTATTTAACTTGTAAAAAGTTTCTGTTCAACTTTTGATTTTTTA AAATCTTTCTTTTTATTTTTTTGAGATAGAGTCTCACTCTTGTCACCCAG GTTGGAGTCCAGTGGCACGATCTCAGCTCATTGCAACCTCTACCTCCCAG GTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGC ACCTGCCACCATGCCTGGCTAATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03239.hp1 NA18956.hp1 others(3): Show HG02056.hp1 HG03239.hp1 NA18956.hp1 NA18989.hp1 NA19009.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0301 a0001c0001t0009g0302 a0001c0001t0009g0303 others(3): Show a0001c0001t0009g0301 a0001c0001t0009g0302 a0001c0001t0009g0303 a0001c0001t0009g0304 a0001c0001t0009g0305 a0001c0001t0009g0306	6	353	0.0170	734	c.974 others(749): Show c.974-284_974-283insCGAACTCCTCACCTCAGGTGATCTGCCCGC CTCCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCCACCACCCCTGG CATGTTTTAAGCTTTCCAGAGTACTCTAGGGAATCTATGATTGACATAAA TCTGTTCTGTGGAGAAAAAAATTTTAACTTTTTTTTTTTTTTTAAATACA GAGTCTCTCTCTGTGGCCCAGGCTGGAGTACAGTGGTGCAATCTTGGCTC ACTGAAACCTCTGCCTCCCGGGTTCAAGTAATTCTCCTGCCTCAGCCTCC CTAGTAGCTAGAATTACAAGTACATGCCACCATTCCCGGCTAATTTTTGT ATTTTTAGTAGAAACGAGGTTTTACCATGTTGGCCAGGCTGGTCTCAAAC TCCTGACCTCAGGTTATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATT ACAGATGTATGCCAACATGCGCAACAAACGTGTATTTAACTTGTAAAAAG TTTCTGTTCAACTTTTGATTTTTTAAAATCTTTCTTTTTATTTTTTTGAG ATAGAGTCTCACTCTTGTCACCCAGGTTGGAGTCCAGTGGCACGATCTCA GCTCATTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGC CTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCTGGCTAATTT TTTTTTTTTTTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTG GTCT	ZC3H11A	ENSG00000058673.17	transcript	ENST00000367210.3	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF627_chr19_11592483_11624161	11613151	C C	CCCTTCCT others(727): Show CCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCCC CCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTCCC CTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCCC TCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTC CTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCCC CTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTCTCCTCCTCCCTCCCCTC CCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTCCTCCCT CCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCCTCCCC CTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTC CCCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCT CCTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCC TTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCT TCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACC TGTCCCTCCCCTCTCCCCTTCCCCCTCACCTCCCT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	316	0.0032	734	c.4-1 others(747): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTC CTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTC TCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCT CCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCC TCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCT TCCCCTCTCTTCCTCTCCCCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCC CCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCC CCTCCCCTCCCCTTCCCTTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTT CCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCC CCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCACCTCC CT	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3			chr19	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	ACACCCAT others(728): Show ACACCCATACACACACCAGACCCCCACACCCCCACACACAGCCACACCCC CACACCCATACACACACACCCACCCACCCACACCCACACCCACCACACAC ACCCACACCCCCCCCACACACCCACATACCCCCACCACACACCCACACAC CCCCTCACACACACACCCACACCCACCACACACCCCCACCACACACCCAC ATACACCCACACCCCCACCACACACCCCCACATACTAATACACACACACC CACACCCTCCCACCCCCCCACCACACACCAATACACACCCACACACCCCC TCACACACACACCCACACACCCACACACCCACCACACACCCATACATACA CACCCCCACACCCCCTCACACCCTCCCCCCACTCACCCATACACAACCCC CACCACACCCCCACACCCATACACACACACACCCCCACCACACCCATACA CACACACACCCCCACCACACCCATACACACACACCCGTACCCCCTCACAC CCTCCCCCCACACACCCATACACACACCCCCACACCCCCACCACACCCAT ACACACACACCCGTACCCCCTCACACCCTCCCCCCACACACCCATCCCCA CCACACACCCATACACACACACCCACACACACACCACACCCATACACACA CATACCCCCACACCCCCACACACACCCTCCCTCACACACACCCCCACCAC ACACCCATACACACCCCAACCCCCCACACACACACC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03471.hp1 NA20129.hp2 HG02976.hp1 HG03471.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0047 a0001c0001 a0001c0012 a0001c0047	a0001c0001t0006 a0001c0012t0006 a0001c0047t0006 a0001c0001t0006 a0001c0012t0006 a0001c0047t0006	a0001c0001t0006g0032 a0001c0012t0006g0056 a0001c0047t0006g0120 a0001c0001t0006g0032 a0001c0012t0006g0056 a0001c0047t0006g0120	3	14	0.2143	735	c.387 others(754): Show c.3871-3767_3871-3766insGGTGTGTGTGTGGGGGGTTGGGGTGT GTATGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTG TGGGGGTATGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTAT GGGTGTGTGGTGGGGATGGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGG GTGTGTGTGTATGGGTGTGGTGGGGGTGTGGGGGTGTGTGTATGGGTGTG TGGGGGGAGGGTGTGAGGGGGTACGGGTGTGTGTGTATGGGTGTGGTGGG GGTGTGTGTGTGTATGGGTGTGGTGGGGGTGTGTGTGTGTATGGGTGTGG GGGTGTGGTGGGGGTTGTGTATGGGTGAGTGGGGGGAGGGTGTGAGGGGG TGTGGGGGTGTGTATGTATGGGTGTGTGGTGGGTGTGTGGGTGTGTGGGT GTGTGTGTGAGGGGGTGTGTGGGTGTGTATTGGTGTGTGGTGGGGGGGTG GGAGGGTGTGGGTGTGTGTGTATTAGTATGTGGGGGTGTGTGGTGGGGGT GTGGGTGTATGTGGGTGTGTGGTGGGGGTGTGTGGTGGGTGTGGGTGTGT GTGTGAGGGGGTGTGTGGGTGTGTGGTGGGGGTATGTGGGTGTGTGGGGG GGGTGTGGGTGTGTGTGGTGGGTGTGGGTGTGGGTGGGTGGGTGTGTGTG TATGGGTGTGGGGGTGTGGCTGTGTGTGGGGGTGTGGGGGTCTGGTGTGT GTATGGGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ACTN2_chr1_236681499_236769631	236756898	A A	AATAGAGT others(728): Show AATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCGTGGTT ATAGAGTATATACTGCAGAGTGCCCGCTACCACTGTTAGAACCCTGGTAA TAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACGCTGGTAAT AGAGTATATACTGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTAATA GAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTTATAG AGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGA GTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAG TATATACTGCAGAGTGCCTGCTGCCACTGTTAGAACCCTGGTAATAGAGT ATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTA TATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTAT ATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCGTGGTTATAGAGTATA TACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATAT ACTGCAGAGTGCCCGCTGCCACTGTTAGAACGCTGGTAATAGAGTATATA CTGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATAC TGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	324	0.0031	735	c.215 others(752): Show c.2155-545_2155-544insGTGGTTATAGAGTATATACTGCAGAGTG CCCGCTACCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGC CCGCTGCCACTGTTAGAACGCTGGTAATAGAGTATATACTGCAGAGGGCC CGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCC GCTGCCACTGTTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCG CTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGC TGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCTGCT GCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTG CCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGC CACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCC ACTGTTAGAACCGTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCA CTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCAC TGTTAGAACGCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACT GTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTG TTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGT TAGAACC	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ANKRD28_chr3_15662236_15802979	15742674	A A	AGCCAGCC others(728): Show AGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCACCGTCTGGGAGGGAGGTGGGGGGGGGTCAGTCTCCCCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGTGAAGTGAGGATCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAAG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCTGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGA GGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAG GGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCTCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCAGGCTAGCCGCCCCGTCTGGGA GGGAGGTGGGGGGTCAGCCCCCCGCCCGGCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGAGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC TGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCGCCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01168.hp2 HG02280.hp2 others(5): Show HG01109.hp2 HG01168.hp2 HG02280.hp2 HG02717.hp1 HG02809.hp2 HG02897.hp2 HG02922.hp1 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0005 a0001c0009t0005 a0001c0003t0005 a0001c0009t0005	a0001c0003t0005g0278 a0001c0003t0005g0279 a0001c0003t0005g0282 others(5): Show a0001c0003t0005g0278 a0001c0003t0005g0279 a0001c0003t0005g0282 a0001c0003t0005g0283 a0001c0003t0005g0285 a0001c0003t0005g0287 a0001c0003t0005g0288 a0001c0009t0005g0280	8	117	0.0684	735	c.352 others(752): Show c.352-5442_352-5441insGGGCGGGGGCTGAACCCCCCACCTCCCT CCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCTCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGCCGGGCGGGGGGCTGACCCCC CACCTCCCTCCCAGACGGGGCGGCTAGCCTGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGAGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGTGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCTTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGATCCTCAC TTCACAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGGGGAGACTGACCCCCCCCCACCTCCCTCCCAGACGGTG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGC	ANKRD28	ENSG00000206560.12	transcript	ENST00000683139.1	protein_coding	4/27			chr3	TogoVar
ANKRD28_chr3_15662236_15802979	15742674	A A	AGCCAGCC others(728): Show AGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCACCGTCTGGGAGGGAGGTGGGGGGGGGTCAGTCTCCCCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGTGAAGTGAGGATCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAAG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCTGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGA GGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAG GGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCTCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCAGGCTAGCCGCCCCGTCTGGGA GGGAGGTGGGGGGTCAGCCCCCCGCCCGGCGGGAGGTGAGGGGCGCCTCT GCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGAGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC TGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCGCCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0289 a0001c0003t0005g0289	1	110	0.0091	735	c.352 others(752): Show c.352-5442_352-5441insGGGCGGGGGCTGAACCCCCCACCTCCCT CCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCTCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCAGGCAGAGGCGCCCCTCACCTCCCGCCGGGCGGGGGGCTGACCCCC CACCTCCCTCCCAGACGGGGCGGCTAGCCTGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGAGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGTGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCTTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGATCCTCAC TTCACAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGGGGAGACTGACCCCCCCCCACCTCCCTCCCAGACGGTG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGC	ANKRD28	ENSG00000206560.12	transcript	ENST00000683139.1	protein_coding	4/27			chr3	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(728): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAAGGGAAGGGAA AGGGGAAGGGAAGGGAGGAAGGGAAGGGAAGGGAAGGGAGGGAAGTGAAA GGGAAGGGAAAGGGAAGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAA GGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAA GGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGCGAAGGGACG GGAAGGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAAG GGGAAGGGAAGGGGAAGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGGA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGGA AGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGCAGGGGAAGGGGAAAAG TAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGAAGGGA AGGAAACGGAAGGGGAAGGGAAGGGGAGGGGAAGTGAAGGGGTAGCAAAG GGAAAGAAAGGAAAGGGAAAAGGGGAAGAGAGGGAGGGAGGGAGGGAGGA AGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAG AGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	5	0.2000	735	c.927 others(752): Show c.927+4528_927+4529insTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCCC TCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCATCCG TCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCCTTTTCCCTTTCCT TTCTTTCCCTTTGCTACCCCTTCACTTCCCCTCCCCTTCCCTTCCCCTTC CGTTTCCTTCCCTTCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCTCTCCT TTCCCTTACTTTTCCCCTTCCCCTGCCCTTCCCCTTCCCCTTCCCTTCCC CTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTC CCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCTTCCCCTT CCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTT CCCCTTCCCGTCCCTTCGCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCT TCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCT TCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCTTCCCTTT CCCTTCCCTTTCACTTCCCTCCCTTCCCTTCCCTTCCCTTCCTCCCTTCC CTTCCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCC TTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(728): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGAAAGGGAAGGGAA GGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAA GGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAG GGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAAGGAAGGGAAG GGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGAAGGGGAAG GGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAAGGGGAAG GGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGGAAGGGA AGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAAGGGAAGGGGAAGGGG AAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAGGG AAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGAAGGA AAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGGA AAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGAAGGA AGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGAG GGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	5	0.2000	735	c.927 others(752): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCA TCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTT CCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCC CTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCC TCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCC TTCCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTTCCTTTCCCTTCC CTTTCCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTT CCCCTTCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCT TCCCTTCCCTTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTT CCCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTT CCCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTT CCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTC CCTTCCCCTTCCCTTCCCTTTCCTTCCCCTTCCCTTCCCTTCCCTTCCCC TTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(728): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAA AAGGAAGGGAAGGGAAGGGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAG GGGAAGGGAAAAGGAAGGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGG AAGGGGAAGGGAAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGAAAGGGA AGGGGAAGGGAAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGT AAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGG AAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAA AGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGG AAGGAAGGACGGATGGACGGACAGGACGAAAAAAGAGAGGGGAGGGGAAG AGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0229 a0001c0002t0001g0229	1	5	0.2000	735	c.927 others(752): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCCC TCCCCTCTCTTCCCCTCCCCTCTCTTTTTTCGTCCTGTCCGTCCATCCGT CCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTCCTTT CTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCCTTCC TTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCTCTCC TTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTTCC CTTCCCCTTCCCTTTCCTTTCCCTTCCCTTTCCCTTCCCTTCCCTTTCCC TTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTTCCCCTTCCTTTT CCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTTCCCTTCCCCTTCCCTTC CCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTC CCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTC CCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTC CCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCCCTTTCC CTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTTCCCC TTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(728): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAA GGGAAGGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAA GGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGG GAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGG AAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAG TAAGGGAAAGGAGAGGGGAAGGGAAGGGAGGGGAGGGAAGGGGAAGGGGA AGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAA GGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGA AGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAG AGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	5	0.2000	735	c.927 others(752): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCCC TCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCATCCG TCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTCCTT TCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCCTTC CTTTTCCTTCCCCTTCCCCTTCCCTCCCCTCCCTTCCCTTCCCCTCTCCT TTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTCCCC TTCCCCTTCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCC TTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTC CCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTTC CCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTC CCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTC CCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTC CCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCC CTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTTCCCC TTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARSF_chrX_3036471_3117727	3037056	T T	TTATATAT others(728): Show TTATATATAATATTATATATAATATATATATAATATATATAATATATATA TTATATATAAAATATATATAATATATATATTATATATATTATATATAAAA TATATATAATATATATTATATATATTATATATAAAATATATATAATATTA TATATAATATTTTATATATATAATATATATATTATATATAATATATATAT AATATATATAATATATATATTATATATAAAATATATATAATATATATATT ATATATAAAATATATATAATATATATAATATATATATTATATATAAAATA TATATAATATATATATTATATATAAAATATATATAATATATATAATATAT ATATTATATATAAAATATATATAATATATATATTATATATAAAATATATA TAATATATATAATATATATATTATATATAAAATATATATAATATATATAA TATATATATTATATATAAAATATATATAATATATATAATATATATAAAAT ATATATAATATATATAATATATATATTATATATAAAATATATATCATATA TATAATATATATATTATATATAAAATATATATCATATATATAATATATAT ATTATATATAAAATATATATCATATATATAATATATATATTATATATAAA ATATATATCATATATATAATATATATATTATATATAAAATATATATCATA TATATAATATATATATTATATATAAAATATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	167	0.0060	735	c.-46 others(746): Show c.-4636_-4635insTATATATAATATTATATATAATATATATATAATA TATATAATATATATATTATATATAAAATATATATAATATATATATTATAT ATATTATATATAAAATATATATAATATATATTATATATATTATATATAAA ATATATATAATATTATATATAATATTTTATATATATAATATATATATTAT ATATAATATATATATAATATATATAATATATATATTATATATAAAATATA TATAATATATATATTATATATAAAATATATATAATATATATAATATATAT ATTATATATAAAATATATATAATATATATATTATATATAAAATATATATA ATATATATAATATATATATTATATATAAAATATATATAATATATATATTA TATATAAAATATATATAATATATATAATATATATATTATATATAAAATAT ATATAATATATATAATATATATATTATATATAAAATATATATAATATATA TAATATATATAAAATATATATAATATATATAATATATATATTATATATAA AATATATATCATATATATAATATATATATTATATATAAAATATATATCAT ATATATAATATATATATTATATATAAAATATATATCATATATATAATATA TATATTATATATAAAATATATATCATATATATAATATATATATTATATAT AAAATATATATCATATATATAATATATATATTATATATAAAATATATATC A	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4414		chrX	TogoVar
ARSH_chrX_3001546_3039111	3037056	T T	TTATATAT others(728): Show TTATATATAATATTATATATAATATATATATAATATATATAATATATATA TTATATATAAAATATATATAATATATATATTATATATATTATATATAAAA TATATATAATATATATTATATATATTATATATAAAATATATATAATATTA TATATAATATTTTATATATATAATATATATATTATATATAATATATATAT AATATATATAATATATATATTATATATAAAATATATATAATATATATATT ATATATAAAATATATATAATATATATAATATATATATTATATATAAAATA TATATAATATATATATTATATATAAAATATATATAATATATATAATATAT ATATTATATATAAAATATATATAATATATATATTATATATAAAATATATA TAATATATATAATATATATATTATATATAAAATATATATAATATATATAA TATATATATTATATATAAAATATATATAATATATATAATATATATAAAAT ATATATAATATATATAATATATATATTATATATAAAATATATATCATATA TATAATATATATATTATATATAAAATATATATCATATATATAATATATAT ATTATATATAAAATATATATCATATATATAATATATATATTATATATAAA ATATATATCATATATATAATATATATATTATATATAAAATATATATCATA TATATAATATATATATTATATATAAAATATATATCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0200 a0001c0002t0002g0200	1	218	0.0046	735	c.36 others(746): Show c.3671_*3672insTATATATAATATTATATATAATATATATATAATA TATATAATATATATATTATATATAAAATATATATAATATATATATTATAT ATATTATATATAAAATATATATAATATATATTATATATATTATATATAAA ATATATATAATATTATATATAATATTTTATATATATAATATATATATTAT ATATAATATATATATAATATATATAATATATATATTATATATAAAATATA TATAATATATATATTATATATAAAATATATATAATATATATAATATATAT ATTATATATAAAATATATATAATATATATATTATATATAAAATATATATA ATATATATAATATATATATTATATATAAAATATATATAATATATATATTA TATATAAAATATATATAATATATATAATATATATATTATATATAAAATAT ATATAATATATATAATATATATATTATATATAAAATATATATAATATATA TAATATATATAAAATATATATAATATATATAATATATATATTATATATAA AATATATATCATATATATAATATATATATTATATATAAAATATATATCAT ATATATAATATATATATTATATATAAAATATATATCATATATATAATATA TATATTATATATAAAATATATATCATATATATAATATATATATTATATAT AAAATATATATCATATATATAATATATATATTATATATAAAATATATATC A	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2946		chrX	TogoVar
AUH_chr9_91208823_91366918	91296197	C C	CTTTTTTT others(728): Show CTTTTTTTTTTTTTTTTTTTTTTTTAGGGGGTTTTATTTTTTATTTATTT ATTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGG TTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAAT GTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCC CCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCAT GTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTG GTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCAT CCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGT ATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTT GGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAAT AAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTG GGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCT AGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTT ACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCC AGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	301	0.0033	735	c.599 others(750): Show c.599-121_599-120insTGGCAATCATTAAAAAGTCAGGAAACAACA GGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGG GACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAG GGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTA TATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGT ATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAA ATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCA TGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGG ACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACA AAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGA GATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGG GGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGA TGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGT AACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAA AAAAATAAATAAATAAAAAATAAAACCCCCTAAAAAAAAAAAAAAAAAAA AAAAA	AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding	5/9			chr9	TogoVar
AUH_chr9_91208823_91366918	91296197	C C	CTTTTTTT others(728): Show CTTTTTTTTTTTTTTTTTTTTTTTTAGGGGGTTTTATTTTTTATTTATTT TTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGG TTAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAAT GTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCC CCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCAT GTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTG GTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCAT CCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGT ATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTT GGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAAT AAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTG GGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCT AGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTT ACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCC AGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	301	0.0033	735	c.599 others(750): Show c.599-121_599-120insTGGCAATCATTAAAAAGTCAGGAAACAACA GGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGG GACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAG GGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTA TATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGT ATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAA ATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCA TGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGG ACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACA AAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGA GATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGG GGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGA TGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGT AACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAA AAAAAAAAATAAATAAAAAATAAAACCCCCTAAAAAAAAAAAAAAAAAAA AAAAA	AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding	5/9			chr9	TogoVar
AUH_chr9_91208823_91366918	91296197	C C	CTTTTTTT others(728): Show CTTTTTTTTTTTTTTTTTTTTTTTTAGGGGGTTTTATTTTTTATTTATTT TTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGG TTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAAT GTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCC CCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCAT GTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTG GTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCAT CCATGTCCCTACAAAGGACACGAACTCATCATTTTTTATGGCTGCATAGT ATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTT GGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAAT AAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTG GGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCT AGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTT ACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCC AGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG01358.hp2 others(2): Show HG00280.hp2 HG00639.hp1 HG01358.hp2 HG02300.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0341 a0001c0001t0001g0343 others(2): Show a0001c0001t0001g0120 a0001c0001t0001g0341 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345	5	305	0.0164	735	c.599 others(750): Show c.599-121_599-120insTGGCAATCATTAAAAAGTCAGGAAACAACA GGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGG GACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAG GGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTA TATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGT ATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAA ATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCA TGGAATACTATGCAGCCATAAAAAATGATGAGTTCGTGTCCTTTGTAGGG ACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACA AAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGA GATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGG GGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGA TGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGT AACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAA AAAAAAAAATAAATAAAAAATAAAACCCCCTAAAAAAAAAAAAAAAAAAA AAAAA	AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding	5/9			chr9	TogoVar
AUH_chr9_91208823_91366918	91296197	C C	CTTTTTTT others(728): Show CTTTTTTTTTTTTTTTTTTTTTTTTAGGGGGTTTTATTTTTTATTTATTT TTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGG TTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAAT GTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCC CCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCAT GTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTG GTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCAT CCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGT ATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTT GGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAAT AAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTG GGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCT AGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTT ACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCC AGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG02015.hp1 others(28): Show HG00438.hp1 HG00597.hp1 HG02015.hp1 HG02027.hp2 HG02074.hp1 HG02132.hp1 HG02602.hp1 HG03710.hp2 NA18612.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18969.hp1 NA18970.hp2 NA18979.hp1 NA18982.hp1 NA18995.hp1 NA19002.hp1 NA19010.hp1 NA19060.hp2 NA19065.hp1 NA19068.hp2 NA19074.hp2 NA19075.hp1 NA19077.hp2 NA19085.hp2 NA19087.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(28): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057	31	331	0.0937	735	c.599 others(750): Show c.599-121_599-120insTGGCAATCATTAAAAAGTCAGGAAACAACA GGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGG GACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAG GGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTA TATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGT ATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAA ATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCA TGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGG ACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACA AAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGA GATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGG GGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGA TGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGT AACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAA AAAAAAAAATAAATAAAAAATAAAACCCCCTAAAAAAAAAAAAAAAAAAA AAAAA	AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding	5/9			chr9	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGGCCC others(728): Show TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGC CTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGG CCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGAC GCGTGCAGCCCCCTGGCAGAGCCAGCCCTGTCCAGGCCCCGACGCGTGCA GCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	223	0.0045	735	c.36 others(746): Show c.3604_*3605insGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGC CCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAG CCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCC CGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCTGTCCAG GCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGA C	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
CABP5_chr19_48024383_48049079	48043533	C C	CCACCACC others(728): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCATCACCATCACCAC CACCACCATCACCACCAGCACCACCAGCACCACCACCATCAACATCATCA TCATCACCACCATCACCACCATCATCACCACCACCGTCATCACCACCAGC ACCACCATCACCACCACCATCACCACCATCTCACCATCATCACCATCACC ATCACCATCACCACCATCTCACCATCACCATCACCACCATCATCACCACC ACCATCTCACCATCACCATCACCACCATCATCACCACCACCACCACCACC ACCACCACCATCATCACCATCACCACCAGCACCACCACCATCACCATCAC CATCACCACCATCATCATCACCACCACCACCACCACCACCACCACCACCA TCATCACCATCACCACCAGCACCACCACCATCACCACCACCATCACCACC ACCACCACCACCATCATCACCATCACCACCAGCACCACCACCAACATCAT CATCATCACCACCACCACCACCATCACCACCACCACCACCATCAACACCA CCATCATCATCACCACCACCACCATCACCACCATCT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	151	0.0066	735	c.63+ others(748): Show c.63+326_63+327insAGATGGTGGTGATGGTGGTGGTGGTGATGATG ATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGCTGGTGGTGATGGTG ATGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGATGATGGTGGT GATGGTGATGGTGATGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGA TGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGATGG TGATGGTGATGGTGATGATGGTGAGATGGTGGTGATGGTGGTGGTGATGG TGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTGGTGATGGTGGTG ATGATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGATGGT GGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGG TGATGGTGAGATGGTGGTGATGGTGGTGATGGTGATGATGATGGTGGTGG TGATGGTGAGATGGTGGTGATGGTGGTGGTGGTGGTTATGGTGGTGGTGG TGGTGATGATGGTGATGATGATGGTGTTGATGATGGTGATGATGATGGTG GTG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CABP5_chr19_48024383_48049079	48043533	C C	CCACCACC others(728): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCATCACCATCACCAC CACCACCATCACCACCAGCACCACCAGCACCACCACCATCAACATCATCA TCATCACCACCATCACCACCATCATCACCACCACCGTCATCACCACCAGC ACCACCATCACCACCACCATCACCACCATCTCACCATCATCACCATCACC ATCACCATCACCACCATCTCACCATCACCATCACCACCATCATCACCACC ACCATCTCACCATCACCATCACCACCATCATCACCACCACCATCACCACC ACCATCACCATCACCATCACCACCATCATCATCACCACCACCACCACCAC CACCACCACCATCATCACCATCACCACCAGCACCACCACCATCACCACCA CCATCACCACCACCACCACCACCATCATCACCATCACCACCAGCACCACC ACCAACATCATCATCATCACCACCACCACCACCATCACCACCACCACCAC CATCACCACCATCATCATCACCACCACCACCATCACCACCATCAACACCA CCATCATCATCACCACCACCACCATCACCACCATCT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	151	0.0066	735	c.63+ others(748): Show c.63+326_63+327insAGATGGTGGTGATGGTGGTGGTGGTGATGATG ATGGTGGTGTTGATGGTGGTGATGGTGGTGGTGGTGATGATGATGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGATGATGATGT TGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGATGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGGT GGTGGTGGTGGTGGTGGTGGTGATGATGATGGTGGTGATGGTGATGGTGA TGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGA TGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGATGG TGATGGTGATGGTGATGATGGTGAGATGGTGGTGATGGTGGTGGTGATGG TGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTGGTGATGGTGGTG ATGATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGATGGT GGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGG TGATGGTGAGATGGTGGTGATGGTGGTGATGGTGATGATGATGGTGGTGG TGATGGTGAGATGGTGGTGATGGTGGTGGTGGTGGTTATGGTGGTGGTGG TGGTGATGATGGTGATGATGATGGTGTTGATGATGGTGATGATGATGGTG GTG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CANT1_chr17_78986716_79014764	79004502	A A	AGTTAGGG others(728): Show AGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGGGGGGAGTTAGG GAGGGGAGTTAGGGAGAGGGGGGTTAGGGAGAGGGGGGTTAGGGAGAAGG GAGTTAGGGAAGGGAGTTAGGGAGAGGGGAGTTAGGGAGGGGGGAGTTAG GGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGAGGGGAGCTGGGGGGGAG TTATGGAGCAAGGAGTTAGGGAGGGGGGAGTTAGGGAGAAGGGAGTTAGG GAGAGGGGAGCTAGGGAGAGGGGGTTAGGGAGGGGGGAGTTAGGGAAGGG GGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGAAGGGAGTTA GGGAGAGGGGAGCTAGGGAGAGGGGGGTTAGGGAGGGGGGAGTTAGGGAA GGGGGAGTTAGGGAGGGGAGTTAGGGAGAAGGGAGTTAGGGAGGGGAGTT AGGGAGAGGGGGGTTAGGGAGGGGGGAGTTAGGGAAGGGGGAGTTAGGGA GGGGAGTTAGGGAGAGGGGAGTTAGGGAGGGGAGCTAGGGAGAGGGGGTT AGGGAGGGGGGAGTTAGGGAAGGGGGAGTTAGGGAGGGGAGTTAGGGAGA GGGGAGTTAGGGAGAAGGGAGTTAGGGAGAGGGGAGCTAGGGAGAGGGGG GTTAGGGAGGGGGGAGTTAGGGAAGGGGGAGTTAGGGAGGGGAGTTAGGG AGAGGGAGGTTAGGGAGGGGAGTTAGGGAGAGGGGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0194 a0001c0002t0020g0194	1	342	0.0029	735	c.-14 others(754): Show c.-147+5161_-147+5162insCCCCCTCTCCCTAACTCCCCTCCCTA ACCTCCCTCTCCCTAACTCCCCTCCCTAACTCCCCCTTCCCTAACTCCCC CCTCCCTAACCCCCCTCTCCCTAGCTCCCCTCTCCCTAACTCCCTTCTCC CTAACTCCCCTCTCCCTAACTCCCCTCCCTAACTCCCCCTTCCCTAACTC CCCCCTCCCTAACCCCCTCTCCCTAGCTCCCCTCCCTAACTCCCCTCTCC CTAACTCCCCTCCCTAACTCCCCCTTCCCTAACTCCCCCCTCCCTAACCC CCCTCTCCCTAACTCCCCTCCCTAACTCCCTTCTCCCTAACTCCCCTCCC TAACTCCCCCTTCCCTAACTCCCCCCTCCCTAACCCCCCTCTCCCTAGCT CCCCTCTCCCTAACTCCCTTCTCCCTAACTCCCCTCTCCCTAACTCCCCT CCCTAACTCCCCCTTCCCTAACTCCCCCCTCCCTAACCCCCTCTCCCTAG CTCCCCTCTCCCTAACTCCCTTCTCCCTAACTCCCCCCTCCCTAACTCCT TGCTCCATAACTCCCCCCCAGCTCCCCTCTCCCTAACTCCCCTCTCCCTA ACTCCCCTCCCTAACTCCCCCCTCCCTAACTCCCCTCTCCCTAACTCCCT TCCCTAACTCCCTTCTCCCTAACCCCCCTCTCCCTAACCCCCCTCTCCCT AACTCCCCTCCCTAACTCCCCCCTCCCTAACTCCCCTCTCCCTAACTCCC CTCCCTAAC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CAPN11_chr6_44153820_44189401	44181908	T T	TCACACAC others(728): Show TCACACACACATACACACTCACATACAGACACAACCACACCACACTCACA CACACACACACACTCACATACAGACACAACCACACCACACTCACACACAC ATACACACTCACATACAGACACAACCACACCACACTCACACACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACACACACACTCACATA CAGACACAACCACACCACACACACACACACACACATACAGACACAACCAC ACCACACACACACATACACACTCACATACAGACAACCACACCACACTCAC ACACACACATACACACTCACATACAGACACAACCACACCACACTCACACA CACATACACACTCACATACAGACACAACCACACCACACTCACACACACAT ACACACTCACATACAGACACAACCACACCACACTCACACACACACACACT CACATACAGACACAACCACACCACACTCACACACACATACACACTCACAT ACAGACACAACCACACCACACTCACACACACATACACACTCACATACAGA CACAACCACACCACACTCACACACACATACACACTCACATACAGACACAA CCACACCACACTCACACACACACACACACTCACATACAGACACAACCACA CCACACACACACACACATACAGACACAACCACACCA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	421	0.0024	735	c.193 others(752): Show c.1938+645_1938+646insCACACTCACATACAGACACAACCACACC ACACTCACACACACATACACACTCACATACAGACACAACCACACCACACT CACACACACATACACACTCACATACAGACACAACCACACCACACTCACAC ACACATACACACTCACATACAGACACAACCACACCACACTCACACACACA CACACACTCACATACAGACACAACCACACCACACACACACACACACACAT ACAGACACAACCACACCACACACACACATACACACTCACATACAGACAAC CACACCACACTCACACACACACATACACACTCACATACAGACACAACCAC ACCACACTCACACACACATACACACTCACATACAGACACAACCACACCAC ACTCACACACACATACACACTCACATACAGACACAACCACACCACACTCA CACACACACACACTCACATACAGACACAACCACACCACACTCACACACAC ATACACACTCACATACAGACACAACCACACCACACTCACACACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACACACACACTCACATA CAGACACAACCACACCACACACACACACACATACAGACACAACCACACCA CACACACACATACACACTCACATACAGACACAACCACACCACACTCACAC ACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(728): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCATTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACC CCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCC TGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTG CAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCC CTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCC CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG02895.hp1 others(2): Show HG02109.hp2 HG02717.hp1 HG02895.hp1 HG02897.hp1 NA20300.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0028 a0006c0010t0001g0029 a0006c0010t0001g0030 others(2): Show a0006c0010t0001g0028 a0006c0010t0001g0029 a0006c0010t0001g0030 a0006c0010t0001g0031 a0006c0010t0001g0032	5	60	0.0833	735	c.-29 others(746): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCA GGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGA GGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTG TGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGG AAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGG GGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAA GGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAATGAGGGGGAGGGG TGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG G	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(728): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCTCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTC CTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCAC CCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTT CCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCC TGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTG CAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCC CTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCC CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0052 a0002c0006t0002g0052	1	56	0.0179	735	c.-29 others(746): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGA AGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGG GGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAA GGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGAGAGGGG TGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG G	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CDH4_chr20_61247261_61945617	61716380	G G	GCTGGACC others(728): Show GCTGGACCTGTAAAGGGGTGGACGCTCCTCACCTGTGAGCCTCCTCTTGG CTGGACCTGTAAAGGGGTGGACGCTCCTCACCTGTGAGCCTCCTCTTGGC TGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCT GGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTG GACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGG ACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGA CCTGTAAAGGGGTGGACGCTCCTCGCCTGTGGGCCTCCTCTTGGCTGGAC CTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACC TGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCT GTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCTG TAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCTGT AAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCTGTA AAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCTGTAA AGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCTGTAAA GGGGTGGACGCTCCTCGCCTGTGACCCGCCCCTTGA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02257.hp1 HG02809.hp1 others(2): Show HG02148.hp2 HG02257.hp1 HG02809.hp1 HG03130.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0001c0012 a0001c0023 others(2): Show a0001c0006 a0001c0012 a0001c0023 a0002c0002 a0002c0004	a0001c0006t0045 a0001c0012t0001 a0001c0023t0042 others(2): Show a0001c0006t0045 a0001c0012t0001 a0001c0023t0042 a0002c0002t0003 a0002c0004t0012	a0001c0006t0045g0070 a0001c0012t0001g0008 a0001c0023t0042g0084 others(2): Show a0001c0006t0045g0070 a0001c0012t0001g0008 a0001c0023t0042g0084 a0002c0002t0003g0069 a0002c0004t0012g0016	5	97	0.0515	735	c.170 others(754): Show c.170-27178_170-27177insCCTGTAAAGGGGTGGACGCTCCTCAC CTGTGAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCACC TGTGAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCT GTGAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTG TGAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGT GAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTG AGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGG GCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAG CCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGC CTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCC TCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCT CCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTC CTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCC TCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCT CTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGACCCGCCCC TTGACTGGA	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61716380	G G	GCTGGACC others(728): Show GCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGG CTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGC TGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCT GGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTG GACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGG ACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGA CCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGAC CTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACC TGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCT GTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCTG TAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCTGT AAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCTGTA AAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCTGTAA AGGGGTGGACGCTCCTCACCTGTGACCCGCCCCTTGGCTGGAGCTGTAAA GGGGTGGACGCTCCTCACCTGTGACCCGCCCCTTGA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0005 a0001c0021t0005	a0001c0021t0005g0047 a0001c0021t0005g0047	1	93	0.0108	735	c.170 others(754): Show c.170-27178_170-27177insCCTGTAAAGGGGTGGACGCTCCTCGC CTGTGAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCC TGTGAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCT GTGAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTG TGAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGT GAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTG AGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGA GCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAG CCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGC CTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCC TCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCT CCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTC CTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCC TCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCACCTGTGACCCGCCC CTTGGCTGGAGCTGTAAAGGGGTGGACGCTCCTCACCTGTGACCCGCCCC TTGACTGGA	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CENPM_chr22_41933737_41952152	41939818	A A	AAAAGAAA others(728): Show AAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAA GAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAAAGAAAGAAAAAGAAAGA AAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAA GAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGA AAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGA AAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAA AGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAA AGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAG AAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAG AAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01169.hp2 HG00099.hp2 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0138 a0001c0003t0002g0142 a0001c0003t0002g0138 a0001c0003t0002g0142	2	170	0.0118	735	c.403 others(750): Show c.403-623_403-622insCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT CTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTT CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTCTTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTC TTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTC TTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTT TCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTTTCTTTCTTTCTTTCTTTC TTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTT TCTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CENPM_chr22_41933737_41952152	41939818	A A	AAAAGAAA others(728): Show AAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAA GAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAAAGAAAGAAAAAGAAAGA AAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAA GAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGA AAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGA AAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAA AAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAA AGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAA AGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAG AAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAG AAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18974.hp2 NA18980.hp1 others(2): Show NA18942.hp1 NA18974.hp2 NA18980.hp1 NA19004.hp2 NA19057.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0004 a0001c0003t0002g0134 a0001c0003t0002g0141 a0001c0003t0002g0004 a0001c0003t0002g0134 a0001c0003t0002g0141	5	173	0.0289	735	c.403 others(750): Show c.403-623_403-622insCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT CTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTT CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTCTTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTC TTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTC TTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTT TCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTTTCTTTCTTTCTTTCTTTC TTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTT TCTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CFAP61_chr20_20047532_20365698	20357810	T T	TACTGAGG others(728): Show TACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGG AGGTGGTCACAGTGTGCGGGGAGGTGGTCATACTGAGGGGAGGTGGTCAC ACTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCACACTGTGAGGG GAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGG AGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCAC ACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGA GGTGGTGACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGT GTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACATTGAGGAGAG GTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGG TGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACT GAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCACAGTGTGAGGGGAGGT GGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTG TGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02080.hp1 NA18962.hp2 HG02071.hp1 HG02080.hp1 NA18962.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0110 a0002c0002t0001g0115 a0002c0002t0001g0179 a0002c0002t0001g0110 a0002c0002t0001g0115 a0002c0002t0001g0179	3	26	0.1154	735	c.351 others(754): Show c.3514-2359_3514-2358insCTGAGGGGAGGTGGTCACAGTGTGCG GGGAGGTGGTCATACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGT CACACTGAGGAGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGG AGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGA GAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTGACACTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCAC ACTGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGGG GAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATA GTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAC TGAGGAGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGA GGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAG GTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(728): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGG GAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGG GGGGAGGAGGGGAGCAGGGGAGGGGGGGAGGAGGGGGAGCTGGGGAGGGG GGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGG GAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCGGGGGAGGGGGGAG GAGGGGGAGCTGGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGG GAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGA GCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCT GGGGAGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGG AGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAG GGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGG GGAGGAGGGAGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGA GGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGA GGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGG GGAGCAGGGGAGGGGGGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0003 a0001c0003t0002g0003	1	11	0.0909	735	c.-26 others(744): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCC TCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCC CTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCT CCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCTCCCC AGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGC TCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTC CCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCAGCTCCCCCTC CTCCCCCCTCCCCCGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTC CCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCC CCCCTCCCCAGCTCCCCCTCCTCCCCCCCTCCCCTGCTCCCCTCCTCCCC CCTCCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTC CCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(728): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGG GAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGGAGGAGGGGAGCAGGGGAG GGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGG GGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGG AGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCGGGGGAGGGGGGAGG AGGGGGAGCTGGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGG AGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAG CTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTG GGGAGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGA GGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGG GGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGG GAGGAGGGAGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAG GAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAG GGGGAGCAGGGGAGGGGGGAGGAGGGGGGAGCAGGGGAGGGGGAGGAGGG GGAGCAGGGGAGGGGGGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0054 a0001c0003t0002g0054	1	11	0.0909	735	c.-26 others(744): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCCTCCTCCCCCCTCCCCTGCTCCCC CTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTC CTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCC CCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCC TCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCTCCC CAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAG CTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCT CCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCAGCTCCCCCT CCTCCCCCCTCCCCCGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCT CCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCC CCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCC CTCCCCTGCTCCCCTCCTCCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTC CCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CRLF3_chr17_30777684_30829692	30792923	G G	GAGGCGGG others(728): Show GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCAGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAATCTAATTAATAAATGAGTCTACATCTTCTAAAAAAGAATGCA GGGGAGAGATCAATTTCAAATCATAAGACTTTTTTTTTTTTTGAGACAGA GTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCAC TGCAAGCTCTGCCTCCCAAGTTCAGCCATTCTCCTGCTTGAGCCTCCCAA GTAGTTGGGCCTACAGGTGCCCCATGCCTGGCTAATTTTTGGTATTTGTA GTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGCA CTCGTGATCCGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTG AGCCACCATGCCCGGCCCTCAAATCATCAGACTTTTAAGAAAATGTCTCT CTCCAGGTATTTCTTGAGAGTTTGGAAAATCAGCATCAGCTGGGCACAGT GGCTCACGCCTATAATCCCAGGACTTTGGGAGGTCA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03490.hp2 HG01433.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0093 a0001c0001t0024g0289 a0001c0001t0001g0093 a0001c0001t0024g0289	2	86	0.0233	735	c.827 others(750): Show c.827-352_827-351insTGACCTCCCAAAGTCCTGGGATTATAGGCG TGAGCCACTGTGCCCAGCTGATGCTGATTTTCCAAACTCTCAAGAAATAC CTGGAGAGAGACATTTTCTTAAAAGTCTGATGATTTGAGGGCCGGGCATG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGCGGAT CACGAGTGCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGT CTCTACTACAAATACCAAAAATTAGCCAGGCATGGGGCACCTGTAGGCCC AACTACTTGGGAGGCTCAAGCAGGAGAATGGCTGAACTTGGGAGGCAGAG CTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAG TGAGACTCTGTCTCAAAAAAAAAAAAAGTCTTATGATTTGAAATTGATCT CTCCCCTGCATTCTTTTTTAGAAGATGTAGACTCATTTATTAATTAGATT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCT	CRLF3	ENSG00000176390.12	transcript	ENST00000324238.7	protein_coding	5/7			chr17	TogoVar
CRLF3_chr17_30777684_30829692	30792923	G G	GAGGCGGG others(728): Show GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCAGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAT TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAATCTAATTAATAAATGAGTCTACATCTTCTAAAAAAGAATGCA GGGGAGAGATCAATTTCAAATCATAAGACTTTTTTTTTTTTTGAGACAGA GTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCAC TGCAAGCTCTGCCTCCCAAGTTCAGCCATTCTCCTGCTTGAGCCTCCCAA GTAGTTGGGCCTACAGGTGCCCCATGCCTGGCTAATTTTTGGTATTTGTA GTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGCA CTCGTGATCCGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTG AGCCACCATGCCCGGCCCTCAAATCATCAGACTTTTAAGAAAATGTCTCT CTCCAGGTATTTCTTGAGAGTTTGGAAAATCAGCATCAGCTGGGCACAGT GGCTCACGCCTATAATCCCAGGACTTTGGGAGGTCA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01981.hp1 HG01106.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0267 a0001c0001t0001g0271	2	86	0.0233	735	c.827 others(750): Show c.827-352_827-351insTGACCTCCCAAAGTCCTGGGATTATAGGCG TGAGCCACTGTGCCCAGCTGATGCTGATTTTCCAAACTCTCAAGAAATAC CTGGAGAGAGACATTTTCTTAAAAGTCTGATGATTTGAGGGCCGGGCATG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGCGGAT CACGAGTGCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGT CTCTACTACAAATACCAAAAATTAGCCAGGCATGGGGCACCTGTAGGCCC AACTACTTGGGAGGCTCAAGCAGGAGAATGGCTGAACTTGGGAGGCAGAG CTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAG TGAGACTCTGTCTCAAAAAAAAAAAAAGTCTTATGATTTGAAATTGATCT CTCCCCTGCATTCTTTTTTAGAAGATGTAGACTCATTTATTAATTAGATT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAATGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCT	CRLF3	ENSG00000176390.12	transcript	ENST00000324238.7	protein_coding	5/7			chr17	TogoVar
CRLF3_chr17_30777684_30829692	30792923	G G	GAGGCGGG others(728): Show GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAATCTAATTAATAAATGAGTCTACATCTTCTAAAAAAGAATGCAG GGGAGAGATCAATTTCAAATCATAAGACTTTTTTTTTTTTTTGAGACAGA GTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCAC TGCAAGCTCCGCCTCCCAAGTTCAGCCATTCTCCTGCTTGAGCCTCCCAA GTAGTTGGGCCTACAGGTGCCCCATGCCTGGCTAATTTTTGGTATTTGTA GTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGCA CTCGTGATCCGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTG AGCCACCATGCCCGGCCCTCAAATCATCAGACTTTTAAGAAAATGTCTCT CTCCAGGTATTTCTTGAGAGTTTGGAAAATCAGCATCAGCTGGGCACAGT GGCTCACGCCTATAATCCCAGGACTTTGGGAGGTCA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0085 a0001c0004t0004g0085	1	85	0.0118	735	c.827 others(750): Show c.827-352_827-351insTGACCTCCCAAAGTCCTGGGATTATAGGCG TGAGCCACTGTGCCCAGCTGATGCTGATTTTCCAAACTCTCAAGAAATAC CTGGAGAGAGACATTTTCTTAAAAGTCTGATGATTTGAGGGCCGGGCATG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGCGGAT CACGAGTGCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGT CTCTACTACAAATACCAAAAATTAGCCAGGCATGGGGCACCTGTAGGCCC AACTACTTGGGAGGCTCAAGCAGGAGAATGGCTGAACTTGGGAGGCGGAG CTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAG TGAGACTCTGTCTCAAAAAAAAAAAAAAGTCTTATGATTTGAAATTGATC TCTCCCCTGCATTCTTTTTTAGAAGATGTAGACTCATTTATTAATTAGAT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCT	CRLF3	ENSG00000176390.12	transcript	ENST00000324238.7	protein_coding	5/7			chr17	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461746	C C	CCACATTC others(728): Show CCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCGTGG GGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCAC AGCGGCCACATTCACCGTGGGGGGCATATCCGCACAGCGGCCACATTTAC CATGGATGGCGTATCCGCACAGCGGCCACATTCACCATGGATGGCGTATC CGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACA TTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGC GTATCCGCACAGCGGCCACATTCACCATGGATGGCGTATCCGCACAGCGG CCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGG GGGGCGTATCCGCACAGCGGCCACATTCACCGTGGGGGGCGTATCCGCAC AGCGGCCACATTCACCGTGGGGGGCGTATCCGCACAGCGGCCACATTCAC CGTGGGGGGCATATCCGCACAGCGGCCACATTTACCATGGATGGCGTATC CGCACAGCAGCCACATTCACCATGGGGGGCGTATCCGCACAGCACACACA TTCACCATGGAGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGC GTATCCGCACAGCAGCCACATTCACCATGGATGGCGTATCTGCACAGCAG CCACATTCACCATGGGGGGCGTATCCACACAGCACA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	155	0.0065	735	c.635 others(752): Show c.635-3105_635-3104insTGTGCTGTGTGGATACGCCCCCCATGGT GAATGTGGCTGCTGTGCAGATACGCCATCCATGGTGAATGTGGCTGCTGT GCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCTCC ATGGTGAATGTGTGTGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCT GCTGTGCGGATACGCCATCCATGGTAAATGTGGCCGCTGTGCGGATATGC CCCCCACGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCACGGTGAATG TGGCCGCTGTGCGGATACGCCCCCCACGGTGAATGTGGCCGCTGTGCGGA TACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGT GAATGTGGCCGCTGTGCGGATACGCCATCCATGGTGAATGTGGCCGCTGT GCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCC ATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCC GCTGTGCGGATACGCCATCCATGGTGAATGTGGCCGCTGTGCGGATACGC CATCCATGGTAAATGTGGCCGCTGTGCGGATATGCCCCCCACGGTGAATG TGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGA TACGCCCCCCACGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGT GAATGTG	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
DIP2C_chr10_269201_694668	321734	C C	CCGGCGAG others(728): Show CCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTG CGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCC GGTGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG GCGAGAGACTGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGG CGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGT GAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCG AGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGA GAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAG AGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGA GACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAG ACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGA CCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGAC TGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACC AGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCA GTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0051 a0001c0002t0002g0051	1	81	0.0123	735	c.392 others(754): Show c.3924+5271_3924+5272insCACCCCCGCACCCCCGACTGACTGTT CTAACAACACTGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTC TAACAACACTGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCT AACAGCGCCAGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTA ACAGCGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAA CAACGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAAC AACGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACA ACGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAG CGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGC GCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCG CCGGTCTCTCACCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACGC CGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCC AGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCG GTCTCTCACCGGACCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGG TCTCTCGCCGCACCCCCGCACCCCCGACTGACTGTTCTAACAACACTGGT CTCTCGCCG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DNAH17_chr17_78418697_78582396	78438426	A A	AGGAGGAG others(728): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAG GAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGG GAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAG GGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGAGGAGG AGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGG AGGGAGGAGGGGGAGGAGGAGGAGGAGGGGGAGGAGGGAGGAGGGAGGAG GGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGGGAGGAGGGAGGAGGGAG GAGGAGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGA GGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGAGGAGGA GGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGA GGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGGAAGGAGGAGGGAGGAGG AGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGG AGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAG GAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGA GGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0054 a0001c0054	a0001c0054t0001 a0001c0054t0001	a0001c0054t0001g0191 a0001c0054t0001g0191	1	214	0.0047	735	c.118 others(754): Show c.11806-559_11806-558insCTCCTCCCTCCTCCTCCTCCTCCCTC CTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCT CCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCT CCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCC TCCTCCTCCTCCTCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCC TCCTCCTCCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCT CCTCCCTCCCTCCTCCTCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCC CTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCCCT CCTCCTCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCTCCTCCTCCCTCC TCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCTCCTCCTCCC CCTCCTCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCCTCCTCCTCCCCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCT CCTCCTCCCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCT CCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCT CCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCC TCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DOCK8_chr9_209865_470255	400827	T T	TCACCACC others(728): Show TCACCACCTCCTTCACCATCACCACCACCACCACCTCCACTATCACCACC ACCTCCACCATCACCACCTCCTCCATCACCACCACCATCTTCACCATCAC CACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCCTCCACCA CCACCACCTCCTCCACCACCACCACCTCCTCCACCACCACCACCACCTCC CCCACTACCAACAGCTCCTTCACCATCACCACAACATCCACCACCACCAT CACCACCACCTCCACCATCACCTCCACCACCACCACCTCCTCCACCATCA CCACCAGCTCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATC ACCACCTCCTTCACCATCACCACCACCACCTCCTCCACCACCACCACCAC CTCCACCACCACCTCCTCCACTACCACCACCATCTTCACCATCACCACCA CCACCTCCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACC ACCACCACCACCACCACCACTTCCACCATCACCACCTCCTTCACCATCAC CATCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCA CCATCACCACCACCACCACCACCACCACTTCCACCATCACCACCTCCTTC ACCATCACCATCACCACCACCTCCACCTCCACCACCACCACCTCCACCAC CACCACCACCTCCACCACCACCGTCACCACCTTCTC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0041 a0041	a0041c0149 a0041c0149	a0041c0149t0010 a0041c0149t0010	a0041c0149t0010g0071 a0041c0149t0010g0071	1	166	0.0060	735	c.323 others(754): Show c.3234+1573_3234+1574insCCTCCTTCACCATCACCACCACCACC ACCTCCACTATCACCACCACCTCCACCATCACCACCTCCTCCATCACCAC CACCATCTTCACCATCACCACCACCTCCACCATCACCACCACCTCCACCA CCACCACCTCCTCCACCACCACCACCTCCTCCACCACCACCACCTCCTCC ACCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCACCAC AACATCCACCACCACCATCACCACCACCTCCACCATCACCTCCACCACCA CCACCTCCTCCACCATCACCACCAGCTCCACCATCACCACCACCTCCACC ACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACCACCTC CTCCACCACCACCACCACCTCCACCACCACCTCCTCCACTACCACCACCA TCTTCACCATCACCACCACCACCTCCATCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCACCACCACCACCACCACTTCCACCATCAC CACCTCCTTCACCATCACCATCACCACCACCTCCACCACCACCACCTCCA CCACCACCACCACCTCCACCATCACCACCACCACCACCACCACCACTTCC ACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCTCCAC CACCACCACCTCCACCACCACCACCACCTCCACCACCACCGTCACCACCT TCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EEF1A2_chr20_63483014_63504083	63486886	A A	ACCTGCCC others(728): Show ACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGCC CATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCCACCCTC CACCCAACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTTCCCCCCG ACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCGACCCTTC TCCGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCAT CCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGG GAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTG CCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCC TCCACCCCGACCCTCCTCCGCATCCTCAGGGAAGCTGCCCAACCTCCACC CCACCCTCCTCCGAATCCTCAGGGAACCTGCCCACCCTCCACCCCGACCC TCCTCCGCATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCCTCCG CATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCCGCATCCTC AGGGAAGCTGCCCACCCTCCACCCTGACCCTCCTCTGCATCCTCAAGGAA CCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCCC ACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0197 a0001c0002t0001g0197	1	340	0.0029	735	c.14 others(746): Show c.1411_*1412insCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGG GTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCA GGTTCCTTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGGGCAGCTTCC CTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGA TGCGGAGGAGGGTGGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGCGGAG GAGGGTCGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATTCGGAGGAGGGT GGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTCGGGGTG GAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTG GGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGT TCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGA GGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCG GAGAAGGGTCGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGG GTCGGGGGGAAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTTGGG TGGAGGGTGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGA TGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAG G	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1127		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63486901	A A	ACCCTGAC others(728): Show ACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGA CCTCACCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCAACCCTCCTC CGCATCCTCAGGGAACCTGCCCACCCTTCCCCCCGACCCTCCTCTGCATC CTCAGGGAACCTGCCCACCCTCCACCCGACCCTCCTCCGCATCCTCAGGG AACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGC CCACCCTCCACCCGACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCT CCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCC ACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCC TCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCCGAAT CCTCAGGGAACCTGCCCACCCTCCCCCCCGACCCTCCTCCGAATCCTCAG GGAACCTGCCCACCCTCCACCCCGACCCTCCTCCGCATCCTCAGGGAAGC TGCCCAACCTCCACCCCACCCTCCTCCGCATCCTCAAGGAACCTGCCCAT CCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCATCCTCCAC CCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCC TCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00597.hp2 others(22): Show HG00099.hp2 HG00323.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00741.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01261.hp1 HG01928.hp1 HG01943.hp1 HG01981.hp1 HG02071.hp1 HG02273.hp1 HG03239.hp2 HG03492.hp1 HG03704.hp2 NA18747.hp1 NA18967.hp1 NA19003.hp1 NA19077.hp1 NA19085.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0023 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0139 a0001c0013t0001g0142	25	361	0.0693	735	c.13 others(746): Show c.1396_*1397insGGGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAG GAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGAGGGTG GGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGA GGATGGGCAGGTTCCTTGAGGATGCGGAGGAGGGTGGGGTGGAGGTTGGG CAGCTTCCCTGAGGATGCGGAGGAGGGTCGGGGTGGAGGGTGGGCAGGTT CCCTGAGGATTCGGAGGAGGGTCGGGGGGGAGGGTGGGCAGGTTCCCTGA GGATTCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCA GAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGG GTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGT GGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTCGGGTGGAGGGT GGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGG TTCCCTGAGGATGCGGAGGAGGGTCGGGTGGAGGGTGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTCGGGGGGAAGGGTGGGCAGGTTCCCTGAGGATG CGGAGGAGGGTTGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGGTGA GGTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGG G	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1112		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63486901	A A	ACCCTGAC others(728): Show ACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGA CCTCACCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCAACCCTCCTC CGCATCCTCAGGGAACCTGCCCACCCTTCCCCCCGACCCTCCTCTGCATC CTCAGGGAACCTGCCCACCCTCCACCCGACCCTCCTCCGCATCCTCAGGG AACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGC CCACCCTCCACCCGACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCT CCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCATCCC ACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCC TCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCCGAAT CCTCAGGGAACCTGCCCACCCTCCCCCCCGACCCTCCTCCGAATCCTCAG GGAACCTGCCCACCCTCCACCCCGACCCTCCTCCGCATCCTCAGGGAAGC TGCCCAACCTCCACCCCACCCTCCTCCGCATCCTCAAGGAACCTGCCCAT CCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCATCCTCCAC CCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCC TCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	337	0.0030	735	c.13 others(746): Show c.1396_*1397insGGGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAG GAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGAGGGTG GGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGA GGATGGGCAGGTTCCTTGAGGATGCGGAGGAGGGTGGGGTGGAGGTTGGG CAGCTTCCCTGAGGATGCGGAGGAGGGTCGGGGTGGAGGGTGGGCAGGTT CCCTGAGGATTCGGAGGAGGGTCGGGGGGGAGGGTGGGCAGGTTCCCTGA GGATTCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCA GAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGG GTGGGATGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGT GGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTCGGGTGGAGGGT GGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGG TTCCCTGAGGATGCGGAGGAGGGTCGGGTGGAGGGTGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTCGGGGGGAAGGGTGGGCAGGTTCCCTGAGGATG CGGAGGAGGGTTGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGGTGA GGTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGG G	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1112		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63486901	A A	ACCCTGAC others(728): Show ACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGA CCTCACCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCAACCCTCCTC CGCATCCTCAGGGAACCTGCCCACCCTTCCCCCCGACCCTCCTCTGCATC CTCAGGGAACCTGCCCACCCTCCACCCGACCCTCCTCCGCATCCTCAGGG AACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGC CCACCCTCCACCCGACCCTCCTCTTCATCCTCAGGGAGCCTGCCCACCCT CCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCC ACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCC TCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCCGAAT CCTCAGGGAACCTGCCCACCCTCCCCCCCGACCCTCCTCCGAATCCTCAG GGAACCTGCCCACCCTCCACCCCGACCCTCCTCCGCATCCTCAGGGAAGC TGCCCAACCTCCACCCCACCCTCCTCCGCATCCTCAAGGAACCTGCCCAT CCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCATCCTCCAC CCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCC TCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	337	0.0030	735	c.13 others(746): Show c.1396_*1397insGGGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAG GAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGAGGGTG GGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGA GGATGGGCAGGTTCCTTGAGGATGCGGAGGAGGGTGGGGTGGAGGTTGGG CAGCTTCCCTGAGGATGCGGAGGAGGGTCGGGGTGGAGGGTGGGCAGGTT CCCTGAGGATTCGGAGGAGGGTCGGGGGGGAGGGTGGGCAGGTTCCCTGA GGATTCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCA GAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGG GTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGT GGAGGGTGGGCAGGCTCCCTGAGGATGAAGAGGAGGGTCGGGTGGAGGGT GGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGG TTCCCTGAGGATGCGGAGGAGGGTCGGGTGGAGGGTGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTCGGGGGGAAGGGTGGGCAGGTTCCCTGAGGATG CGGAGGAGGGTTGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGGTGA GGTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGG G	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1112		chr20	TogoVar
EML1_chr14_99788413_99947060	99927949	T T	TGGTGGTG others(728): Show TGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG ATGGTGGCGGTGGTGGTGGGGGTGGGGGTGGGGGTGGTGGTGGTATTGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTG ATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGAT GGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTG GTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0190 a0003c0002t0001g0190	1	276	0.0036	735	c.190 others(754): Show c.1909+7077_1909+7078insTGGAGGTGGTGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGATGGTGGCGGTGGTGGTGGGGGTGGGGGTGGG GGTGGTGGTGGTATTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGG TGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGT GGAGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGT GGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG ATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGAGGTGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928123	A A	AGGTGGTG others(728): Show AGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGAGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGA TGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGGTGGTATTGGTGGTGGTGGTGATGGTGGTGATGGTGGT GGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTATTGGTGGTGGTGGTGATG GTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTATTGG TGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGAGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0062 a0001c0005t0009g0062	1	179	0.0056	735	c.190 others(754): Show c.1909+7268_1909+7269insATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGAGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTG ATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGATGGTGGTGGTGGTATTGGTGGTGGTGGTGATGGTGGTGATGGTGG TGGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTATTGGTGGTGGTGGTGAT GGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTATTG GTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGAGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG GTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55331803	T T	TATATATA others(728): Show TATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCG TGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAA AATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCG TGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAA AATATATATATACACCACCGTGGTGTATATATAAAA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0198 a0001c0001t0005g0198	1	63	0.0159	735	c.-10 others(754): Show c.-10-18559_-10-18558insTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGT GGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAA ATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACC ACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATA TAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGT GGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAA ATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACC ACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATA TAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATAT ACACCACCG	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55331803	T T	TATATATA others(728): Show TATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACGGTGGTGTATATATAAAAATATATATATACACCACCG TGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAA AATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCG TGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAA AATATATATATACACCACCGTGGTGTATATATAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	63	0.0159	735	c.-10 others(754): Show c.-10-18559_-10-18558insTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGT GGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAA ATATATATATACACCACGGTGGTGTATATATAAAAATATATATATACACC ACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATA TAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGT GGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAA ATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACC ACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATA TAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATAT ACACCACCG	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FLT3_chr13_27998274_28105576	27998945	T T	TTATATGC others(728): Show TTATATGCATATACATATATATTTATATGCATATAAATATATATTTATAT ACATATAAATATATATGTATATACATATAAATATATGTATATACATATAA ATATATATGTATATACATATAAATATATATGTATATACATATATATATGT ATATACATATATATATATGTATATACATATATATATGTATATACATATAT ATATATGTATATACATATATATATGTATATACATATAAATATATATGTAT ATACATATAAATATATATGTATATACATATAAATATATATGTATATACAT ATAAATATATATGTATGTATATTATATACATATAAATATATATATTTATA TACATATAAATATATATATTTATATACATATAAATATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATATTTATATACA TATAAATATATATTTATATACATATAAATATATATTTATATACATATAAA TATATATTTATATACATATAAATATATATTTACATACATATAAATATATA TTTACATACATATAAATATATACATTTATATACATATAAATATATACATA TATACATATAAATATATATTTATATACATATAAATATATATATTTATATA TATTTATATATATAAATATATATATATTTATATATATATAAATATATATA TATTTATATATATATAAATATATATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	223	0.0045	735	c.51 others(746): Show c.5106_*5107insTATATAAATATATATATATTTATATATATATAAA TATATATATATTTATATATATATAAATATATATATATTTATATATATAAA TATATATAAATATATATATTTATATGTATATAAATATATATTTATATGTA TATATGTATATATTTATATGTATATAAATGTATATATTTATATGTATGTA AATATATATTTATATGTATGTAAATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATATTTATA TGTATATAAATATATATATTTATATGTATATAAATATATATATTTATATG TATATAAATATATATATTTATATGTATATAATATACATACATATATATTT ATATGTATATACATATATATTTATATGTATATACATATATATTTATATGT ATATACATATATATTTATATGTATATACATATATATATGTATATACATAT ATATATATGTATATACATATATATATGTATATACATATATATATATGTAT ATACATATATATATGTATATACATATATATTTATATGTATATACATATAT ATTTATATGTATATACATATATTTATATGTATATACATATATATTTATAT GTATATAAATATATATTTATATGCATATAAATATATATGTATATGCATAT A	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4328		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999111	A A	ATGTATAT others(728): Show ATGTATATACATATAAATATATATGTATATACATATAAATATATATGTAT ATACATATAAATATATATGTATATAAATATATATGTATGTATATTATATA CATATAAATATATATGTATATAATATATATGTATGTATATTATATACATA TAAATATATATATTTATATACATATAAATATATATTTATATACATATAAA TATATATATTTATATACATATAAATATATATTTACATACATATAAATATA TATTTACATACATATAAATATATATATTTATATACATATAATACATATAC ATATATACATATAAATATATATTTATATATATATAAATATATATATTTAT ATATATAAATATATATATTTATATATATATAAATATATATATATTTATAT ATATATAAATATATATATTTATATATATATAAATATATATATATTTATAT ATATATACATATAAATATATATTTATATACATATAAATATATAATTATAT ACATATAAATATATATAATTATATACATATAAATATATATTTATATACAT ATAAATATATATATTTATATACATATAAATTTATATACATATAAATATAT ATATTTATATTTATATACATATAAATATATATATTTATATTTATATACAT ATAAATATACATATAAATATAAATATTTATATTTATATACATATAAATAT AAATATTTATATTTATATACATATAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 NA18522.hp1 HG03130.hp2 NA18522.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0015 a0003c0003t0001g0190 a0002c0002t0001g0015 a0003c0003t0001g0190	2	273	0.0073	735	c.49 others(746): Show c.4940_*4941insATATATATATTTATATGTATATAAATATAAATAT TTATATTTATATGTATATAAATATAAATATTTATATTTATATGTATATTT ATATGTATATAAATATAAATATATATATTTATATGTATATAAATATAAAT ATATATATTTATATGTATATAAATTTATATGTATATAAATATATATATTT ATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATAT GTATATAATTATATATTTATATGTATATAAATATATATTTATATGTATAT ATATATAAATATATATATATTTATATATATATAAATATATATATTTATAT ATATATAAATATATATATATTTATATATATATAAATATATATATTTATAT ATATAAATATATATATTTATATATATATAAATATATATTTATATGTATAT ATGTATATGTATTATATGTATATAAATATATATATTTATATGTATGTAAA TATATATTTATATGTATGTAAATATATATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATATT TATATGTATATAATATACATACATATATATTATATACATATATATTTATA TGTATATAATATACATACATATATATTTATATACATATATATTTATATGT ATATACATATATATTTATATGTATATACATATATATTTATATGTATATAC A	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4162		chr13	TogoVar

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