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
TP73_chr1_3647516_3741201	3693855	C C	CTCCTCCT others(415): Show CTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCTCCTCCTCCCACAATCC CAGCCCTGCAGCCTCAGCTCCTCCTCCCACAATCCCAGCCCTGCAGCCTC AGCTCCTCCTCCCACAATCCCACCCATGCAGCTTCAGCCCCTCCTCCCGC AATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCA GCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCCGCCCCTCCT CCTGCAATCCTAGTCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCTAGTC CTGCAGCCTCAGCCCCTTCCTCCCGCAATCCCACCCATGCAGCCTCAGCC CCTCCTCCCGCAATCCTAGTCCTGCAGCCTCAGCCCCTCCTCCCGCAATC CTAGTCCTGCAGCCTCAGCCCCT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0039 a0001c0017t0039	a0001c0017t0039g0132 a0001c0017t0039g0132	1	356	0.0028	422	c.186 others(441): Show c.186+10681_186+10682insTGCAATCCCAGCCCTGCAGCCTCAGC TCCTCCTCCCACAATCCCAGCCCTGCAGCCTCAGCTCCTCCTCCCACAAT CCCAGCCCTGCAGCCTCAGCTCCTCCTCCCACAATCCCACCCATGCAGCT TCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCC GCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTG CAGCCTCCGCCCCTCCTCCTGCAATCCTAGTCCTGCAGCCTCAGCCCCTC CTCCCGCAATCCTAGTCCTGCAGCCTCAGCCCCTTCCTCCCGCAATCCCA CCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCTAGTCCTGCAGCCTCAG CCCCTCCTCCCGCAATCCTAGTCCTGCAGCCTCAGCCCCTTCCTCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694118	G G	GCCCTGCA others(415): Show GCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAG CCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCCGCAA TCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGC CTCAGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCC CGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCT GCAGCCTCAGCCCCTTCCTCCCGCAATCCCACCCATGCAGCCTCAGCCCC TCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCCCCTGCAATCCC AGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCA GACCCTTCCTCCCACAATCCCAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	352	0.0028	422	c.186 others(441): Show c.186+10940_186+10941insCTGCAGCCTCAGCCCCTCCTCCCGCA ATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAG CCTCCGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTC CCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCA TGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCC TCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTTCCTCCCGCAATCC CACCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTC AGCCCCTCCCCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGC AATCCCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694449	A A	AGCCCCTC others(415): Show AGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGC AATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCA GCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTTCC TCCCGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGC CCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCC CCTTCCTCCCGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCCGCAAT CCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCC TCAGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCC GCAATCCCAGCCCTGCAGCCTCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0011 a0001c0007t0011	a0001c0007t0011g0078 a0001c0007t0011g0078	1	353	0.0028	422	c.186 others(441): Show c.186+11293_186+11294insCTGCAGCCTCAGCCCCTCCTCCCGCA ATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAG CCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTTCCT CCCGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCC CTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCC CTTCCTCCCGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCCGCAATC CCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCT CAGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCG CAATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694754	A A	ATGCAGCC others(415): Show ATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAGCC CCTCCTCCTGCAATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATC CCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCT CAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCG CAATCCCAGCCCTGCAGCCTCCACCCCTCCTCCCGCAATCCCAGCCATGC AGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTC CTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAC CCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGC CCCTCCTCCTGCAATCCCAGCCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	237	0.0042	422	c.186 others(441): Show c.186+11589_186+11590insCTCCTCCCACAATCCCACCCATGCAG CCTCAGCCCCTCCTCCTGCAATCCCACCCATGCATCTTCAGCCCCTCCTC CCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCC TGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCC TCCTCCCGCAATCCCAGCCCTGCAGCCTCCACCCCTCCTCCCGCAATCCC AGCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCA GCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGC AATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCA GCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRAF6_chr11_36478769_36515272	36507507	G G	GTATTATA others(415): Show GTATTATACATACGTAAATGTATATATGTATATATACATGTATTATACAT ACGTAAATGTATAATGTATATATACATGTATTATACATACGTAAATGTAT AATGTATATATACATTATACATACGTAAATGTATAATGTATATATACATT ATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGT ATAATGTATATATACATTATACATACGTAAATGTATAATGTATATATACA TTATACATACGTAAATGTATGTATATATACATTATACATACGTAAATGTA TTATACATAAATGTATATATGTATATATACATGTATTATACATACATAAA TGTATATATGTATATATACATGTATTATACATACATAAATGTATATATGT ATATATACATGTATGCACGTATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02965.hp2 HG02818.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0305 a0001c0001t0020g0306 a0001c0001t0020g0305 a0001c0001t0020g0306	2	271	0.0074	422	c.-23 others(439): Show c.-23+2540_-23+2541insTATACGTGCATACATGTATATATACATA TATACATTTATGTATGTATAATACATGTATATATACATATATACATTTAT GTATGTATAATACATGTATATATACATATATACATTTATGTATAATACAT TTACGTATGTATAATGTATATATACATACATTTACGTATGTATAATGTAT ATATACATTATACATTTACGTATGTATAATGTATATATACATTATACATT TACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATGT ATATATACATTATACATTTACGTATGTATAATGTATATATACATTATACA TTTACGTATGTATAATACATGTATATATACATTATACATTTACGTATGTA TAATACATGTATATATACATATATACATTTACGTATGTATAATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRPC4AP_chr20_34997404_35097807	35097478	T T	TATACACA others(415): Show TATACACACATGTGTGTGTGTATATACATATACACGCGTGTGTATATACA TATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATACA CGCGTGTGTATATACATATACACGCGTGTGTATATACATATACACGCGTG TGTATATACATATACACGCGTGTGTATATACATATACACGCGTGTGTATA TACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATA TACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATACACG CGTGTGTATATACATATACACGCGTGTGTATATACATATACACGCGTGTG TATATACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATA CATATACACGCGTGTGTATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0242 a0001c0001t0003g0242	1	325	0.0031	422	c.-46 others(433): Show c.-4698_-4697insGTATATACACACGCGTGTATATGTATATACACAC GCGTGTATATGTATATACACACGCGTGTATATGTATATACACACGCGTGT ATATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGT ATATACACACGCGTGTATATGTATATACACACGCGTGTATATGTATATAC ACACGCGTGTATATGTATATACACACGCGTGTATATGTATATACACACGC GTGTATATGTATATACACACGCGTGTATATGTATATACACACGCGTGTAT ATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGTAT ATACACACGCGTGTATATGTATATACACACGCGTGTATATGTATATACAC ACGCGTGTATATGTATATACACACACACATGTGTGTAT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4672		chr20	TogoVar
TULP4_chr6_158307465_158516828	158449517	T T	TGAAAAAT others(415): Show TGAAAAATGCTGTGCTATTACTAAGAAAAATTCCTCTGCCTTGGGATCCT GTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTG TGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTT AAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCT AATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTC TGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTC CCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACAC CCAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	261	0.0038	422	c.724 others(437): Show c.724+360_724+361insCTAAGAAAAATTCCTCTGCCTTGGGATCCT GTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTG TGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTT AAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCT AATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTC TGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTC CCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACAC CCAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAGAAAAATGCTGTGCTATTA	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
TXNDC16_chr14_52425596_52557505	52530556	A A	ATATTATA others(415): Show ATATTATATATAATAATATAATATATATTATTATATATTATTATATATAA TAATATAATATATATTATTATATATTATTATATATAATATAATATATATT ATTATATATTATTATATATAATATAATATATATTATTATATATTATTATA TATAATATAATATATATTATTATATATTATATATAATATAATATATATTA TTATATATTATTATATATAATATAATATATATTATTATATATTATTATAT ATAATATAATATATATTATTATATATTATTATATATAATAATATATAATA TATATTATTATATATTATTATATATAATAATATAATATATATTATTATAT ATAATAATATAATATATATTATTATATATTATTATATATAATATAATATA TATTATTATATATTATTATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0099 a0007c0012t0001g0099	1	11	0.0909	422	c.392 others(439): Show c.392+6162_392+6163insATATATAATAATATATAATAATATATAT TATATTATATATAATAATATATAATAATATATATTATATTATTATATATA ATAATATATATTATATTATTATATATAATAATATATAATAATATATATTA TATATTATTATATATAATAATATATAATAATATATATTATATTATATATA ATAATATATAATAATATATATTATATTATATATAATAATATATAATAATA TATATTATATTATATATAATATATAATAATATATATTATATTATATATAA TAATATATAATAATATATATTATATTATATATAATAATATATAATAATAT ATATTATATTATATATAATAATATATAATAATATATATTATATTATTATA TATAATAATATATAATAATATATATTATATTATTATATATAATA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
VCX2_chrX_8164944_8176267	8169105	C C	CCTCCCTC others(415): Show CCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCTCT TCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACA CCGCCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCT CCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCC TCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCTCACACACCA CCGCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCC TCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCA CCTCTTCCTCCCTCCCTCCCTCCCCACAAACCACCTCTTCCTCCCTCCCT CCCTCCCTCCCCACACACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	79	0.0127	422	c.92 others(431): Show c.926_*927insAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAA GAGGTGGTTTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGAGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGCGGTGTGTGGGGAGGG AGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		838		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533095	C C	CCCTCCCT others(415): Show CCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCA CACACCTCTTCTTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCT CCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTC CTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCTCCC CACACACCTCTCCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTC CCTCCTCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCT TCCTCCCTCCCTCCTCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCA CACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCT CCCTCCCTCCCCACACACTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	58	0.0172	422	c.64 others(431): Show c.649_*650insAAGAAGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGAGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGAGGAGGGAGGGAGGAAGAG GTGTGTGGGGAGGGAGGGAGGGAGGGAGAGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGAGGTGTGTGGGGAGGGAGGGAAGAAGAGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		522		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842829	T T	TAGATGTA others(415): Show TAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATAGA TGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATGTATCTATCGATAGATAG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	334	0.0030	422	c.53+ others(437): Show c.53+2003_53+2004insGATGTATCTATCGATAGATAGATGTATCTA TCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS53_chr17_503668_719839	598880	G G	GCCCCCCA others(415): Show GCCCCCCACCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCATGCCCGGCCAGCCGCCCCGTCCCGGAGGGAGTTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCACCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CTTGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCAGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01081.hp2 HG01255.hp2 others(34): Show HG00423.hp2 HG01081.hp2 HG01255.hp2 HG01256.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01978.hp2 HG02040.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG03492.hp2 HG04184.hp2 HG04199.hp2 NA18940.hp2 NA18945.hp2 NA18950.hp1 NA18961.hp1 NA18967.hp2 NA18978.hp2 NA18983.hp2 NA19009.hp2 NA19060.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp2 NA19081.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0007 a0007c0012 a0001c0001 a0001c0007 a0007c0012	a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 others(18): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0033 a0001c0001t0037 a0001c0001t0070 a0001c0001t0091 a0001c0001t0103 a0001c0001t0104 a0001c0001t0107 a0001c0001t0112 a0001c0001t0113 a0001c0001t0116 a0001c0001t0117 a0001c0001t0119 a0001c0007t0011 a0001c0007t0012 a0001c0007t0024 a0001c0007t0065 a0007c0012t0122	a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 others(34): Show a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0210 a0001c0001t0011g0013 a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 a0001c0001t0017g0118 a0001c0001t0017g0124 a0001c0001t0017g0125 a0001c0001t0033g0119 a0001c0001t0033g0120 a0001c0001t0037g0126 a0001c0001t0070g0012 a0001c0001t0091g0129 a0001c0001t0103g0117 a0001c0001t0104g0212 a0001c0001t0107g0127 a0001c0001t0112g0138 a0001c0001t0113g0230 a0001c0001t0116g0211 a0001c0001t0117g0143 a0001c0001t0119g0123 a0001c0007t0011g0105 a0001c0007t0011g0106 a0001c0007t0012g0107 a0001c0007t0012g0110 a0001c0007t0012g0111 a0001c0007t0024g0108 a0001c0007t0065g0104 a0007c0012t0122g0140	37	192	0.1927	422	c.121 others(441): Show c.1218+2914_1218+2915insGGCTGACCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCTGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCAAGACG GGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCAACTCCCTCCGGGACGGGGCGGCTGGCCGGGCATGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGTGGGGGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
VPS53_chr17_503668_719839	598880	G G	GCCCCCCA others(415): Show GCCCCCCACCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCATGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGTTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCACCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CTTGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCAGCCAGCCACCCCGTCC GGGAGGGAGGTGGGGGGTCAGCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0020 a0002c0010t0020	a0002c0010t0020g0156 a0002c0010t0020g0156	1	156	0.0064	422	c.121 others(441): Show c.1218+2914_1218+2915insGGCTGACCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCTGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCAAGACG GGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCAACTCCCTCCCGGACGGGGCGGCTGGCCGGGCATGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGTGGGGGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
VPS53_chr17_503668_719839	598880	G G	GCCCCCCA others(415): Show GCCCCCCACCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCATGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGTTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCACCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CTTGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCAGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp2 HG01109.hp1 others(25): Show HG00741.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01346.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp1 HG04204.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0016 a0001c0001t0018 a0001c0001t0031 others(19): Show a0001c0001t0016 a0001c0001t0018 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0081 a0001c0001t0084 a0001c0001t0085 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0098 a0001c0001t0102 a0001c0001t0108 a0001c0001t0109 a0001c0001t0114 a0001c0001t0127 a0001c0001t0134 a0006c0013t0125	a0001c0001t0016g0159 a0001c0001t0016g0205 a0001c0001t0016g0206 others(25): Show a0001c0001t0016g0159 a0001c0001t0016g0205 a0001c0001t0016g0206 a0001c0001t0018g0158 a0001c0001t0031g0196 a0001c0001t0031g0197 a0001c0001t0032g0150 a0001c0001t0032g0151 a0001c0001t0034g0153 a0001c0001t0034g0155 a0001c0001t0036g0114 a0001c0001t0036g0204 a0001c0001t0037g0162 a0001c0001t0081g0046 a0001c0001t0084g0198 a0001c0001t0085g0152 a0001c0001t0092g0145 a0001c0001t0093g0146 a0001c0001t0094g0199 a0001c0001t0095g0147 a0001c0001t0098g0200 a0001c0001t0102g0201 a0001c0001t0108g0164 a0001c0001t0109g0157 a0001c0001t0114g0195 a0001c0001t0127g0154 a0001c0001t0134g0165 a0006c0013t0125g0163	28	183	0.1530	422	c.121 others(441): Show c.1218+2914_1218+2915insGGCTGACCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCTGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCAAGACG GGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCAACTCCCTCCCGGACGGGGCGGCTGGCCGGGCATGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGTGGGGGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
VPS53_chr17_503668_719839	598880	G G	GCCCCCCA others(415): Show GCCCCCCACCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCATGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGTTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCACCTGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CTTGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCAGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0130 a0001c0001t0118 a0001c0001t0130	a0001c0001t0118g0160 a0001c0001t0130g0161 a0001c0001t0118g0160 a0001c0001t0130g0161	2	157	0.0127	422	c.121 others(441): Show c.1218+2914_1218+2915insGGCTGACCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCTGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCAAGACG GGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCAACTCCCTCCCGGACGGGGCGGCTGGCCGGGCATGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGTGGGGGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
ZNF787_chr19_56082366_56126295	56105887	G G	GCCGCGCC others(415): Show GCCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCCCACGGCAG TCACCGCGCATTCCCCGCTCCGCGCCCACGGCAGTCACCGCGCATTCCCC CCTCCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCCCACGGC AGTCACCGCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCC GCCCGCCGCGCCCACGGCAGTCACCGCGCATTCCCCCCTCCGCGCCCACG GCAGTCACCGCGCATTCCGCATTCCCCCCTCCGCGCCCACGGCAGTCACC GCGCATTCCGCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCCCCCTCC GCGCCCACGGCAGTCACCGCGCAATCCCCCCTCCGCGCCCACGGCAGTCA CCGCGCATTCCGCATTCCCCCCT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0002 a0008c0012t0002	a0008c0012t0002g0247 a0008c0012t0002g0247	1	314	0.0032	422	c.-10 others(439): Show c.-10-2661_-10-2660insAGGGGGGAATGCGGAATGCGCGGTGACT GCCGTGGGCGCGGAGGGGGGATTGCGCGGTGACTGCCGTGGGCGCGGAGG GGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGCGGAATGCGCGGTGA CTGCCGTGGGCGCGGAGGGGGGAATGCGGAATGCGCGGTGACTGCCGTGG GCGCGGAGGGGGGAATGCGCGGTGACTGCCGTGGGCGCGGCGGGCGGAAT GCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAATGCGCGGTGACTGCCGT GGGCGCGGAGGGCGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGA ATGCGCGGTGACTGCCGTGGGCGCGGAGCGGGGAATGCGCGGTGACTGCC GTGGGCGCGGAGGGCGGAATGCGCGGTGACTGCCGTGGGCGCGG	ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	1/2			chr19	TogoVar
ZNF787_chr19_56082366_56126295	56105887	G G	GCCGCGCC others(415): Show GCCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCCCACGGCAG TCACCGCGCATTCCCCGCTCCGCGCCCACGGCAGTCACCGCGCATTCCCC CCTCCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCCCACGGC AGTCACCGCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCC GCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCCCCCTCCGCGCCCACG GCAGTCACCGCGCATTCCGCATTCCCCCCTCCGCGCCCACGGCAGTCACC GCGCATTCCGCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCCCCCTCC GCGCCCACGGCAGTCACCGCGCAATCCCCCCTCCGCGCCCACGGCAGTCA CCGCGCATTCCGCATTCCCCCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(68): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01123.hp1 HG01175.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01975.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02165.hp2 HG02523.hp1 HG03239.hp2 HG03688.hp1 HG03831.hp1 HG04115.hp2 HG04199.hp2 NA18747.hp2 NA18940.hp1 NA18942.hp1 NA18946.hp2 NA18948.hp2 NA18951.hp2 NA18960.hp1 NA18962.hp1 NA18969.hp1 NA18971.hp2 NA18974.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19082.hp1 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0008	a0001c0001 a0002c0003 a0004c0004 others(2): Show a0001c0001 a0002c0003 a0004c0004 a0005c0014 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0054 a0001c0001t0057 a0001c0001t0062 a0001c0001t0064 a0001c0001t0069 a0001c0001t0070 a0001c0001t0076 a0001c0001t0080 a0001c0001t0081 a0001c0001t0085 a0001c0001t0086 a0002c0003t0032 a0002c0003t0074 a0004c0004t0001 a0005c0014t0002 a0008c0012t0002	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0025 others(57): Show a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0186 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0267 a0001c0001t0001g0282 a0001c0001t0001g0300 a0001c0001t0001g0316 a0001c0001t0002g0008 a0001c0001t0002g0024 a0001c0001t0002g0237 a0001c0001t0002g0254 a0001c0001t0002g0257 a0001c0001t0002g0275 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0288 a0001c0001t0002g0314 a0001c0001t0003g0183 a0001c0001t0003g0272 a0001c0001t0006g0184 a0001c0001t0006g0185 a0001c0001t0006g0241 a0001c0001t0006g0269 a0001c0001t0006g0270 a0001c0001t0007g0242 a0001c0001t0007g0259 a0001c0001t0007g0271 a0001c0001t0008g0260 a0001c0001t0010g0240 a0001c0001t0010g0273 a0001c0001t0011g0117 a0001c0001t0015g0027 a0001c0001t0035g0280 a0001c0001t0036g0238 a0001c0001t0036g0253 a0001c0001t0037g0251 a0001c0001t0038g0359 a0001c0001t0038g0360 a0001c0001t0054g0261 a0001c0001t0057g0187 a0001c0001t0062g0262 a0001c0001t0064g0243 a0001c0001t0069g0315 a0001c0001t0070g0250 a0001c0001t0076g0182 a0001c0001t0080g0236 a0001c0001t0081g0293 a0001c0001t0085g0358 a0001c0001t0086g0361 a0002c0003t0032g0246 a0002c0003t0074g0239 a0004c0004t0001g0258 a0005c0014t0002g0252 a0008c0012t0002g0022	71	384	0.1849	422	c.-10 others(439): Show c.-10-2661_-10-2660insAGGGGGGAATGCGGAATGCGCGGTGACT GCCGTGGGCGCGGAGGGGGGATTGCGCGGTGACTGCCGTGGGCGCGGAGG GGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGCGGAATGCGCGGTGA CTGCCGTGGGCGCGGAGGGGGGAATGCGGAATGCGCGGTGACTGCCGTGG GCGCGGAGGGGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGCGGAAT GCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAATGCGCGGTGACTGCCGT GGGCGCGGAGGGCGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGA ATGCGCGGTGACTGCCGTGGGCGCGGAGCGGGGAATGCGCGGTGACTGCC GTGGGCGCGGAGGGCGGAATGCGCGGTGACTGCCGTGGGCGCGG	ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	1/2			chr19	TogoVar
ABR_chr17_998519_1184981	1064387	C C	CTATGCAT others(416): Show CTATGCATGTTCCTCTAGACACTGTTATGTGAACTGAGGGCTATGCATGT TCCTCTAGACGCTGCTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTA GACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCCAGACACTG TTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACGCTGCTGTTAT GTGAACTGAGGGCTATGCATGTTCCTCTAGACGCTGTTGTTACGTGAACT GAGGGCTATGCATGTTCCTCTAGCACTGCTGTTACGTGAACTGAGGGCTA TGCATGTTCCTCCAGACACTGTTGGTATGTGAACTGAGGGCTATGCATGT TCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTA GACACTGTTATGTGAACTGAGGGT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0043 a0001c0001t0036g0043	1	332	0.0030	423	c.118 others(442): Show c.1182+2689_1182+2690insACCCTCAGTTCACATAACAGTGTCTA GAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAAC ATGCATAGCCCTCAGTTCACATACCAACAGTGTCTGGAGGAACATGCATA GCCCTCAGTTCACGTAACAGCAGTGCTAGAGGAACATGCATAGCCCTCAG TTCACGTAACAACAGCGTCTAGAGGAACATGCATAGCCCTCAGTTCACAT AACAGCAGCGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACA GTGTCTGGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTA GAGGAACATGCATAGCCCTCAGTTCACATAACAGCAGCGTCTAGAGGAAC ATGCATAGCCCTCAGTTCACATAACAGTGTCTAGAGGAACATGCATA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(416): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATAAAAATTTATATTTATATATCATATAAAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	224	0.0045	423	c.-10 others(434): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTT TATATGATATATAAATATAAATTTTTATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAA TTTTTATATATGATATATAAATATAAATTTTTATTTATGATATATAAATA TAAATTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTAT ATTTATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(416): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA19079.hp1 NA18978.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	225	0.0089	423	c.-10 others(434): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAA TTTTTATATATGATATATAAATATAAATTTTTATTTATGATATATAAATA TAAATTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTAT ATTTATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADAMTS2_chr5_179105853_179350461	179277888	T T	TGCGAGAC others(416): Show TGCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCCG AGACCAACGGCTGACGCCCCCGCGAGACCAAAGGCTGACCCCCTCCGAGA CCAAAGGCTGACACCCCCCGAGACCAAAGGCTGACCGCCCCCGAGACCAA AGGCTGACCCCCCCGTGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGG CTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCT GACCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACC CCCCGCGAGACCAAAGGCTGACCCCCCCCCCGAGACCAAAGGCTGACCCC CCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCC GCGAGACCAAAGGCTGACCCCCCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0060 a0003c0060	a0003c0060t0001 a0003c0060t0001	a0003c0060t0001g0088 a0003c0060t0001g0088	1	234	0.0043	423	c.535 others(440): Show c.535-4825_535-4824insGGGGGGGTCAGCCTTTGGTCTCGCGGGG GGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGG TCAGCCTTTGGTCTCGGGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGTC AGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCC TTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTT TGGTCTCGGGGGGGGTCAGCCTTTGGTCTCACGGGGGGGTCAGCCTTTGG TCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGGGTGTCAGCCTTTGGTCTC GGAGGGGGTCAGCCTTTGGTCTCGCGGGGGCGTCAGCCGTTGGTCTCGGG GGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277906	C C	CCCCCCCC others(416): Show CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCC CCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCC CGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCCCCCCGTGA GACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGAC CAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAA AGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGC TGACCCCCCCCCCCGAGACCAAAGGCTGACCCCCCCCCGAGACCAAAGGC TGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGA CCCCCCCGCGAGACCAAAGGCTGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19030.hp1 HG02717.hp1 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0014 a0003c0043 a0001c0014 a0003c0043	a0001c0014t0013 a0003c0043t0014 a0001c0014t0013 a0003c0043t0014	a0001c0014t0013g0112 a0003c0043t0014g0193 a0001c0014t0013g0112 a0003c0043t0014g0193	2	201	0.0100	423	c.535 others(440): Show c.535-4843_535-4842insTCAGCCTTTGGTCTCGCGGGGGGGTCAG CCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCT TTGGTCTCGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGGGTCAGCCT TTGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGG TCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCT CGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCAC GGGGGGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGG GTGTCAGCCTTTGGTCTCGGAGGGGGTCAGCCTTTGGTCTCGCGGGGGCG TCAGCCGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277906	C C	CCCCCCCC others(416): Show CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCC CCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCC CGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCCCCCCGTGA GACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGAC CAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAA AGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGC TGACCCCCCCCCCGAGACCAAAGGCTGACCCCCCCCCCGAGACCAAAGGC TGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGA CCCCCCCGCGAGACCAAAGGCTGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0031 a0003c0031	a0003c0031t0001 a0003c0031t0001	a0003c0031t0001g0060 a0003c0031t0001g0060	1	200	0.0050	423	c.535 others(440): Show c.535-4843_535-4842insTCAGCCTTTGGTCTCGCGGGGGGGTCAG CCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCT TTGGTCTCGGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGGTCAGCCT TTGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGG TCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCT CGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCAC GGGGGGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGG GTGTCAGCCTTTGGTCTCGGAGGGGGTCAGCCTTTGGTCTCGCGGGGGCG TCAGCCGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277906	C C	CCCCCCCC others(416): Show CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCC CCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCC CGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCCCCCCGTGA GACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGAC CAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAA AGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGC TGACCCCCCCCCCGAGACCAAAGGCTGACCCCCCCCCGAGACCAAAGGCT GACCCCCCCCGAGACCAAAGGCTGACCCCCCCCGCGAGACCAAAGGCTGA CCCCCCCGCGAGACCAAAGGCTGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0122 a0001c0001t0004g0122	1	200	0.0050	423	c.535 others(440): Show c.535-4843_535-4842insTCAGCCTTTGGTCTCGCGGGGGGGTCAG CCTTTGGTCTCGCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCC TTTGGTCTCGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGGTCAGCCT TTGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGG TCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCT CGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCAC GGGGGGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGG GTGTCAGCCTTTGGTCTCGGAGGGGGTCAGCCTTTGGTCTCGCGGGGGCG TCAGCCGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277906	C C	CCCCCCCC others(416): Show CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCC CCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCC CGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCCCCCCGTGA GACCAAAGGCTGGCCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGAC CAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAA AGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGC TGACCCCCCCCCGAGACCAAAGGCTGACCCCCCCCCCGAGACCAAAGGCT GACCCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGA CCCCCCCGCGAGACCAAAGGCTGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0015 a0015	a0015c0083 a0015c0083	a0015c0083t0001 a0015c0083t0001	a0015c0083t0001g0199 a0015c0083t0001g0199	1	200	0.0050	423	c.535 others(440): Show c.535-4843_535-4842insTCAGCCTTTGGTCTCGCGGGGGGGTCAG CCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCC TTTGGTCTCGGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCCT TTGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGG TCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCT CGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGCCAGCCTTTGGTCTCAC GGGGGGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGG GTGTCAGCCTTTGGTCTCGGAGGGGGTCAGCCTTTGGTCTCGCGGGGGCG TCAGCCGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277906	C C	CCCCCCCC others(416): Show CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCC CCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCC CGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCGCCCCCGAG ACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACC AAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAAA GGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGCT GACCCCCCCCCCGAGACCAAAGGCTGACCCCCCCCCCCGAGACCAAAGGC TGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGA CCCCCCCGCGAGACCAAAGGCTGA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0003 a0003	a0003c0063 a0003c0063	a0003c0063t0004 a0003c0063t0004	a0003c0063t0004g0057 a0003c0063t0004g0057	1	200	0.0050	423	c.535 others(440): Show c.535-4843_535-4842insTCAGCCTTTGGTCTCGCGGGGGGGTCAG CCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCT TTGGTCTCGGGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGGTCAGCC TTTGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTG GTCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTC TCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCG GGGGCGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGG GTGTCAGCCTTTGGTCTCGGAGGGGGTCAGCCTTTGGTCTCGCGGGGGCG TCAGCCGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(416): Show AGGGGAAGAGGGAGGAGGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGA GGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGGAGGAGGG GAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGG GGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGA GGGGGGGAGAGGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGG GAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGG GGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAG GGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACG GGGGAGGAGGGGAGGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0030 a0001c0003t0001g0030	1	30	0.0333	423	c.51 others(434): Show c.5165_*5166insCCCTCCCCCCCTCCCCTCCTCCCCCGTCCCCTCC TCCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCC TCCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTT CCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCC CTCCCCTCCTCCCCTCTCCCCCTCCCCCCCTCTCCCCCCCTCCCCTCCTC CCTCCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCC CCCCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCC CCCCTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCC CCCTCCCCTCCTCCCCCCTCCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(416): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0102 a0006c0008t0001g0102	1	123	0.0081	423	c.-1- others(438): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGGAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(416): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	123	0.0081	423	c.-1- others(438): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074546	T T	TCTTCTTC others(416): Show TCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	183	0.0055	423	c.-1- others(438): Show c.-1-5712_-1-5711insGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGGAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAG	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
APBB2_chr4_40805027_41219542	41159910	G G	GAGAAGGA others(416): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0142 a0002c0005t0001g0142	1	177	0.0056	423	c.-41 others(444): Show c.-416-16769_-416-16768insTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
ARFRP1_chr20_63693647_63712976	63693729	A A	ACCACCTC others(416): Show ACCACCTCCACCACCACCACCTCCACCACCACCACCTCCACCACCACCTC CACCACCTCCACCACCACCACCACCTCCTCCACCTCCACCACCTCCACCT CCACCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACC ACCACCTCCACCTCCACCACCACCACCTCCACCACCTCCACCTCCACCAC CACCACCTCCACCACCTCCACCACCACCACCACCTCCACCACCACCACCA CCACCACCTCCACCACCTCCACCTCCACCACCACCACCACCACCACCTCC ACCACCACCTCCAACTCCACCACCTCCACCTCCACCTCCACCACCACCTC CACCACCACCTCCTCCACCTCCACCACCTCCACCACCACCTCCACCACCA CCTCCACCACCACCTCCTCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	167	0.0060	423	c.67 others(434): Show c.6713_*6714insAGGTGGAGGAGGTGGTGGTGGAGGTGGTGGTGGA GGTGGTGGTGGAGGTGGTGGAGGTGGAGGAGGTGGTGGTGGAGGTGGTGG TGGAGGTGGAGGTGGAGGTGGTGGAGTTGGAGGTGGTGGTGGAGGTGGTG GTGGTGGTGGTGGTGGAGGTGGAGGTGGTGGAGGTGGTGGTGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGAGGTGGTGGAGGTGGTGGTGGTGGAGG TGGAGGTGGTGGAGGTGGTGGTGGTGGAGGTGGAGGTGGTGGTGGTGGAG GTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGAGGTGGAGGT GGTGGAGGTGGAGGAGGTGGTGGTGGTGGTGGAGGTGGTGGAGGTGGTGG TGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4917		chr20	TogoVar
ARHGAP39_chr8_144524179_144690846	144686977	C C	CCCCCGTG others(416): Show CCCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCAC TTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGAC CACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACGCACTGGCGGC GAGCACTTCCCACCCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACC CCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACTCATT TACAGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTT CCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCA CACACTAGCAGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02647.hp2 HG02622.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0231 a0001c0001t0001g0233	2	239	0.0084	423	c.-13 others(434): Show c.-1374_-1373insTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGG GTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGT CACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGT GCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTG CGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGT GGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCG CCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCAC GGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1132		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687687	A A	ACCCCCGT others(416): Show ACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACA CATTTACAGTGAACACTTCCCACCCCGTGACCACACACTGGCGGTGAGCA CTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGA CCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGT GAGCACTTCCCACCCCGTGACCACACATTTACAGTGAACACTTCCCACCC CGTGACCACGCACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTG GCGGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCC CACCCCTGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCAC ACACTGGCGGTGAGCACTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0167 a0001c0001t0007g0167	1	172	0.0058	423	c.-20 others(434): Show c.-2084_-2083insGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGG GGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTC ACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGG TCACGGGGTGGGAAGTGCTCACCGCCAGTGCGTGGTCACGGGGTGGGAAG TGTTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTG TGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTG GGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGC CAGTGTGTGGTCACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCACG GGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1842		chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825143	T T	TTCACCTG others(416): Show TTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACC CCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCCGCACCCCACCTGTC CCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCC ACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCC CCCACACCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCAATCCAC CTGTCCCCCCGCACCCCACCTGTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0007 a0007	a0007c0053 a0007c0053	a0007c0053t0001 a0007c0053t0001	a0007c0053t0001g0014 a0007c0053t0001g0014	1	352	0.0028	423	c.-48 others(440): Show c.-48+1030_-48+1031insTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCTG CACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACC CCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTA CTCTGCACCCCAGCTGTCCCCCCCACACCCCACCTGTTCACCCGCACTCC ACCTGTCCCCCCGCAATCCACCTGTCCCCCCGCACCCCACCTGTC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28			chr8	TogoVar
ASH1L_chr1_155330268_155567803	155444916	C C	CTTGTTTG others(416): Show CTTGTTTGTTTGTTCTTTAAAGGGACGGAGTCTGGCTCTGTTGTCCAAGC TGGAGTGCGACAGCAGAATCACAGCTCACTGCAGCATCCACCTCCTAGGC TCAAGGGATTCTTACATGTCAGCCTCCCACGTAACTGGGACTACAGGCAT GAGACAGGACACTTGGCTAATTTTTCTATTTTTTTTTTTTTTTTTTTTAG AGACAGGGTCTCACTATGCTGCCCAGGCTGGTTTCCAACTCCTGGGCTCA AGTGATTATCCGGCCACATCCTCCCTAAGTGTTTTTTTTCATAGACAGAG TATTGCTTCAATGATCCTCTAGCCTCAGCCTCCCAAAGTGTTGAGCTTAC AGGCATGAGCCACCAAGCGCAAGTCTAGCCTTAAATAACGTTTTTTTGAA AAGCAAAAGTCTTAAAGTTTGATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02109.hp1 others(4): Show HG01109.hp1 HG02055.hp2 HG02109.hp1 HG02723.hp1 HG03195.hp2 NA19030.hp1 NA19240.hp2	a0003 a0005 a0011 a0003 a0005 a0011	a0003c0003 a0005c0005 a0011c0014 a0003c0003 a0005c0005 a0011c0014	a0003c0003t0003 a0005c0005t0002 a0011c0014t0002 a0003c0003t0003 a0005c0005t0002 a0011c0014t0002	a0003c0003t0003g0175 a0003c0003t0003g0176 a0003c0003t0003g0177 others(4): Show a0003c0003t0003g0175 a0003c0003t0003g0176 a0003c0003t0003g0177 a0003c0003t0003g0178 a0005c0005t0002g0173 a0005c0005t0002g0174 a0011c0014t0002g0172	7	175	0.0400	423	c.508 others(442): Show c.5087-5849_5087-5848insTATCAAACTTTAAGACTTTTGCTTTT CAAAAAAACGTTATTTAAGGCTAGACTTGCGCTTGGTGGCTCATGCCTGT AAGCTCAACACTTTGGGAGGCTGAGGCTAGAGGATCATTGAAGCAATACT CTGTCTATGAAAAAAAACACTTAGGGAGGATGTGGCCGGATAATCACTTG AGCCCAGGAGTTGGAAACCAGCCTGGGCAGCATAGTGAGACCCTGTCTCT AAAAAAAAAAAAAAAAAAAATAGAAAAATTAGCCAAGTGTCCTGTCTCAT GCCTGTAGTCCCAGTTACGTGGGAGGCTGACATGTAAGAATCCCTTGAGC CTAGGAGGTGGATGCTGCAGTGAGCTGTGATTCTGCTGTCGCACTCCAGC TTGGACAACAGAGCCAGACTCCGTCCCTTTAAAGAACAAACAAACAA	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	4/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155444916	C C	CTTGTTTG others(416): Show CTTGTTTGTTTGTTCTTTAAAGGGACGGAGTCTGGCTCTGTTGTCCAAGC TGGAGTGTGACAGCAGAATCACAGCTCACTGCAGCATCCACCTCCTAGGC TCAAGGGATTCTTACATGTCAGCCTCCCACGTAACTGGGACTACAGGCAT GAGACAGGACACTTGGCTAATTTTTCTATTTTTTTTTTTTTTTTTTTTAG AGACAGGGTCTCACTATGCTGCCCAGGCTGGTTTCCAACTCCTGGGCTCA AGTGATTATCCGGCCACATCCTCCCTAAGTGTTTTTTTTCATAGACAGAG TATTGCTTCAATGATCCTCTAGCCTCAGCCTCCCAAAGTGTTGAGCTTAC AGGCATGAGCCACCAAGCGCAAGTCTAGCCTTAAATAACGTTTTTTTGAA AAGCAAAAGTCTTAAAGTTTGATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02630.hp1 HG01891.hp1 HG02630.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0005 a0004c0004t0004g0006 a0004c0004t0004g0005 a0004c0004t0004g0006	2	170	0.0118	423	c.508 others(442): Show c.5087-5849_5087-5848insTATCAAACTTTAAGACTTTTGCTTTT CAAAAAAACGTTATTTAAGGCTAGACTTGCGCTTGGTGGCTCATGCCTGT AAGCTCAACACTTTGGGAGGCTGAGGCTAGAGGATCATTGAAGCAATACT CTGTCTATGAAAAAAAACACTTAGGGAGGATGTGGCCGGATAATCACTTG AGCCCAGGAGTTGGAAACCAGCCTGGGCAGCATAGTGAGACCCTGTCTCT AAAAAAAAAAAAAAAAAAAATAGAAAAATTAGCCAAGTGTCCTGTCTCAT GCCTGTAGTCCCAGTTACGTGGGAGGCTGACATGTAAGAATCCCTTGAGC CTAGGAGGTGGATGCTGCAGTGAGCTGTGATTCTGCTGTCACACTCCAGC TTGGACAACAGAGCCAGACTCCGTCCCTTTAAAGAACAAACAAACAA	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	4/27			chr1	TogoVar
ATP13A3_chr3_194397677_194492002	194421126	A A	ATATATAT others(416): Show ATATATATATATATATATATATATATATATAGTTTATATATATATAGTTT ATATATATATAAACTATATATATAGTATATATATAAACTATATATATAGT ATATATATATACTATATATATAGTATATATATATACTATATATATAGTAT ATATATATACTATATATAGTTTATATATATATACTATATATATAGTTTAT ATATATATATACTATATATAGTATATATATATATAAACTATATATATAGT TTATATATATATAAACTATATATATAGTTTATATATATATAAACTATATA TATAGTTTATATATATATAAACTATATATATAGTTTATATATATATAAAC TATATATATAGTTTATATATATATACTATATATAGTTTATATATATATAC TATATATATAGTATATATATATAC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19054.hp2 NA19057.hp1 NA18979.hp2 NA19054.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0270 a0001c0001t0006g0271 a0001c0001t0006g0275 a0001c0001t0006g0270 a0001c0001t0006g0271 a0001c0001t0006g0275	3	290	0.0103	423	c.331 others(442): Show c.3314-1160_3314-1159insGTATATATATATACTATATATATAGT ATATATATATAAACTATATATAGTATATATATATAAACTATATATATAGT TTATATATATATAAACTATATATATAGTTTATATATATATAAACTATATA TATAGTTTATATATATATAAACTATATATATAGTTTATATATATATAAAC TATATATATAGTTTATATATATATATACTATATATAGTATATATATATAT AAACTATATATATAGTATATATATATAAACTATATATAGTATATATATAT ACTATATATATAGTATATATATATACTATATATATAGTATATATATATAC TATATATATAGTTTATATATATACTATATATATAGTTTATATATATATAA ACTATATATATATAAACTATATATATATATATATATATATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
B3GNTL1_chr17_82937149_83056770	83023036	G G	GCCCACCT others(416): Show GCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGCCC CACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGCCCCAC CTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCCCACCTG CACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGCCCCACCTGCAC CAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCCCACCTGCACCAG CGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGT GAACTCACGTTAGCTTAGGACTGTCCCCGGCCCACCTGCACCAGCGTGAA CTCACATGAGCTTAGCACTGTCCCTGGCCCACCTGCACCAGCGTGAACTC ACATTCGCTTAGCACTGTCCCCGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01934.hp1 HG03239.hp2 HG00099.hp1 HG01934.hp1 HG03239.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0009 a0001c0002 a0002c0009	a0001c0002t0002 a0002c0009t0003 a0001c0002t0002 a0002c0009t0003	a0001c0002t0002g0110 a0001c0002t0002g0113 a0002c0009t0003g0079 a0001c0002t0002g0110 a0001c0002t0002g0113 a0002c0009t0003g0079	3	216	0.0139	423	c.298 others(440): Show c.298-8518_298-8517insGCGGGGACAGTGCTAAGCGAATGTGAGT TCACGCTGGTGCAGGTGGGCCAGGGACAGTGCTAAGCTCATGTGAGTTCA CGCTGGTGCAGGTGGGCCGGGGACAGTCCTAAGCTAACGTGAGTTCACGC TGGTGCAGGTGGGCCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGG TGCAGGTGGGCCGGGGACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGC AGGTGGGGCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGG TGGGCCGGGGACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGCAGGTGG GGCGGGGACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGCAGGTGGGGC GGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83023111	T T	TAGCTTAG others(416): Show TAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACGTTAG CTTAGGACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACGTTAGCTT AGCACTGTCCCTGGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGC ACTGTCCCCGCTCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACT GTCCCCGCCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTC CCCGGCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCC GCCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGC CCACCTGCACCAGCGTGAACTCACGTTAGCTTAGGACTGTCCCCGGCCCA CCTGCACCAGCGTGAACTCACATG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0239 a0001c0001t0004g0239	1	220	0.0045	423	c.298 others(440): Show c.298-8593_298-8592insCATGTGAGTTCACGCTGGTGCAGGTGGG CCGGGGACAGTCCTAAGCTAACGTGAGTTCACGCTGGTGCAGGTGGGCCG GGGACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGCAGGTGGGGCGGGG ACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGACA GTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGGCGGGGACAGTG CTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGAGCGGGGACAGTGCTA AGCTCATGTGAGTTCACGCTGGTGCAGGTGGGCCAGGGACAGTGCTAAGC TAACGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGACAGTCCTAAGCTAA CGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGACAGTGCTAAGCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
BMT2_chr7_112814147_112944875	112865769	A A	ATTTCATA others(416): Show ATTTCATATATACATATATCATATATATTTTTCATATATATACACATATA TTCATATATACTCGTATATATTTTCATATATACATATATTCATATATACT CGTATATATTTTCATGTATACATATATTCATATATATATTTTCATATACA TATATTCATATATATATTTTCATATACATATATTCATATATATTTCATAT ATACATATATGAAATTTTTCACATATACATATACATACATATATATGTAT ATATGTACGTATATACATATGCATACATATATACGTATATATGTATGTAT ATGCATACATATATACGTATATATGTATGTATATACATACATATATTCAT ATATACATATATTCATATATATTTTTTCATATATATATTCATATATATTT TCATATATATTCATTCATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02622.hp1 HG02896.hp2 others(1): Show HG01192.hp2 HG02622.hp1 HG02896.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0005 a0001c0002t0008g0036 a0001c0002t0008g0037 a0001c0002t0008g0005 a0001c0002t0008g0036 a0001c0002t0008g0037	4	197	0.0203	423	c.473 others(442): Show c.473+29799_473+29800insATATATATGAATGAATATATATGAAA ATATATATGAATATATATATGAAAAAATATATATGAATATATGTATATAT GAATATATGTATGTATATACATACATATATACGTATATATGTATGCATAT ACATACATATATACGTATATATGTATGCATATGTATATACGTACATATAT ACATATATATGTATGTATATGTATATGTGAAAAATTTCATATATGTATAT ATGAAATATATATGAATATATGTATATGAAAATATATATATGAATATATG TATATGAAAATATATATATGAATATATGTATACATGAAAATATATACGAG TATATATGAATATATGTATATATGAAAATATATACGAGTATATATGAATA TATGTGTATATATATGAAAAATATATATGATATATGTATATATGAAA	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	3/4			chr7	TogoVar
C17orf67_chr17_56786913_56838920	56792819	G G	GTGATGGT others(416): Show GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGG TGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTG GTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGATGGT GATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGATGGTGG TGATGGTGGTGGTGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTG GTGGTGGTGATGGTGATGATGGTGGTGATGGTAGTGGTGGTGGTGATGGT GATGATGATGGTGGTGATGGTAGTGGTGATGGTGATGATGGTGGTGATGG TGATGATGGTGGTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	229	0.0044	423	c.21 others(438): Show c.21-468_*21-467insTCACCACCATCACCACCATCATCACCATCA CCACCATCATCACCATCACCACTACCATCACCACCATCATCATCACCATC ACCACCACCACTACCATCACCACCATCATCACCATCACCACCACCACCAT CACCACCATCATCACCATCACCACCATCATCACCACCACCATCACCACCA TCACCACCACCATCACCACCATCATCACCATCACCACCACCATCACCATC ATCACCATCACCACCACCACCACCATCACCACCATCACCACCACCACCAC CACCATCACCATCACCACCATCATCACCATCACCACCATCATCACCATCA CCACCACCATCACCACCATCACCACCACCATCACCACCATCACCATCACC ACCACCACCATCACCACCATCATCACCATCACCACCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C17orf67_chr17_56786913_56838920	56792825	G G	GTGATGGT others(416): Show GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGG TGATGATGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTG GTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGATGGTGATGGT GGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGG TGGTGGTGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTG GTGATGGTGATGATGGTGGTGATGGTAGTGGTGGTGGTGATGGTGATGAT GATGGTGGTGATGGTAGTGGTGATGGTGATGATGGTGGTGATGGTGATGA TGGTGGTGATGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0038 a0001c0001t0007g0038	1	55	0.0182	423	c.21 others(438): Show c.21-474_*21-473insTCACCATCACCACCATCACCACCATCATCA CCATCACCACCATCATCACCATCACCACTACCATCACCACCATCATCATC ACCATCACCACCACCACTACCATCACCACCATCATCACCATCACCACCAC CACCATCACCACCATCATCACCATCACCACCATCATCACCACCACCATCA CCACCATCACCACCACCATCACCACCATCATCACCATCACCACCACCATC ACCATCATCACCATCACCACCACCACCACCATCACCACCATCACCACCAC CACCACCACCATCACCATCACCACCACCATCACCACCATCATCACCATCA CCACCACCATCACCACCATCACCACCACCATCACCACCATCACCATCACC ACCACCACCATCACCACCATCATCACCATCACCACCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C17orf67_chr17_56786913_56838920	56792867	G G	GTGGTGGT others(416): Show GTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGGTGATGGTGAT GGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGGTGATGA TGGTGGTGATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTGGTGGTG GTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGATGGTGATGGT GGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGG TGGTGGTGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTG GTGATGGTGATGATGGTGGTGATGGTAGTGGTGATGGTGATGATGGTGGT GATGGTGATGATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	290	0.0034	423	c.21 others(438): Show c.21-516_*21-515insTCACCACCACCACCACCATCACCACCACCA CCACCACCATCACCATCACCACCATCACCACCATCATCACCATCACCACC ATCATCACCATCACCACTACCATCACCACCATCATCACCATCACCACCAC CACCATCACCACCATCATCACCATCACCACCATCATCACCACCACCATCA CCACCATCACCACCACCATCACCACCATCATCACCATCACCACCACCATC ACCATCATCACCATCACCACCACCACCACCATCACCACCATCACCACCAC CACCACCACCATCACCATCACCACCATCATCACCATCACCACCATCATCA CCATCACCACCACCATCACCACCATCACCACCACCATCACCACCATCACC ATCACCACCACCACCATCACCACCATCATCACCATCACCACCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
CACNA1H_chr16_1148106_1226768	1185607	G G	GGGCCGGG others(416): Show GGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGC ATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGA CGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGT AGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCG AGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGG GCGAGTAGACGGTCGGCATGCATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0244 a0002c0002t0001g0244	1	322	0.0031	423	c.300 others(440): Show c.300-9363_300-9362insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACG TGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGG GGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMTA1_chr1_6780454_7774706	6940912	A A	AGGGGGTC others(416): Show AGGGGGTCCTCACAGGGAGGAGGATCCTCAGGGGGAGGGGGATCCTCACA GGGAGGGGATCCTCGGGAAGGTGGATCCTCACGGGGAGGAGGATCCTCAC GGGGAGGGGGATCCTCACGGGGAGGGGGATCCTCACGGGGAGGGGATCCT CAGGGGGAGGGGGATCCTCCTCAGGGGGAGGGGGATCCTCCTCAGGGGGA GGGGGGATCCTCACGGGGAAGGGGGATCCTCACGGGGAAGGGGGATCCTC ACGGGGAGGCGGGTCCTCACGGGGAGTGGGGATCCTCCAAGGGGAGGGGG ATCCTCACGGGGAGGGGGATCCTCAGAGGGAGGGGGATCCTCACGGGGAG GGGGGATCCTTGGGGGGAGGGGGATCCTTGGGGGGAGGGGGATCCTCACA GGGTGGGGGGATCCTCACAGGGAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA20300.hp1 HG02280.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0001 a0001c0001t0012 a0001c0002t0001	a0001c0001t0012g0019 a0001c0002t0001g0020 a0001c0001t0012g0019 a0001c0002t0001g0020	2	6	0.3333	423	c.234 others(444): Show c.234+115706_234+115707insGTCCTCACAGGGAGGAGGATCCTC AGGGGGAGGGGGATCCTCACAGGGAGGGGATCCTCGGGAAGGTGGATCCT CACGGGGAGGAGGATCCTCACGGGGAGGGGGATCCTCACGGGGAGGGGGA TCCTCACGGGGAGGGGATCCTCAGGGGGAGGGGGATCCTCCTCAGGGGGA GGGGGATCCTCCTCAGGGGGAGGGGGGATCCTCACGGGGAAGGGGGATCC TCACGGGGAAGGGGGATCCTCACGGGGAGGCGGGTCCTCACGGGGAGTGG GGATCCTCCAAGGGGAGGGGGATCCTCACGGGGAGGGGGATCCTCAGAGG GAGGGGGATCCTCACGGGGAGGGGGGATCCTTGGGGGGAGGGGGATCCTT GGGGGGAGGGGGATCCTCACAGGGTGGGGGGATCCTCACAGGGAGGGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CARD11_chr7_2901142_3048867	2909387	C C	CCCCTCCG others(416): Show CCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCTCATCCCTCC GCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCTCACCCCTGCGCCCCT CACCTTCCGCCCCCACCCTCCGCCTCTCATCCCTCCACCCCTCGCCCCTC CGCCCCCACCCCTCCGCCCCCACCCCTCCGCCCCCCACCCCTCCGCCCCC CACCCCTCCGCCCCTCACCCTCCGCCTCTCATCCCTCCGCCCCTCACCCC TCCGCCCCCCACCCCTCCGCCCCTCACCCTCCGCCTCTCATCCCTCCGCC CCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCCACCCCTCCGCCCCTCA CCCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCCCCCACCCCTC CGCCCCCCACCCCTCCGCCCCTCA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19088.hp1 NA19056.hp1 NA19088.hp1	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0002 a0002c0022t0002	a0002c0022t0002g0148 a0002c0022t0002g0209 a0002c0022t0002g0148 a0002c0022t0002g0209	2	318	0.0063	423	c.326 others(440): Show c.3260+662_3260+663insTGAGGGGCGGAGGGGTGGGGGGCGGAGG GGTGGGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGCGGAGGGTGAG GGGCGGAGGGGTGGGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGGGGCG GAGGGATGAGAGGCGGAGGGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGG TGAGGGGCGGAGGGATGAGAGGCGGAGGGTGAGGGGCGGAGGGGTGGGGG GCGGAGGGGTGGGGGGCGGAGGGGTGGGGGCGGAGGGGTGGGGGCGGAGG GGCGAGGGGTGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAAGGTGAGGG GCGCAGGGGTGAGGGGCGGAGGGGTGGGGGCGGAGGGGCGAGGGGCGGAG GGATGAGAGGCGGAGGGTGGGGGCGGAGGGGTGGGGGGCGGAGGG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CBFA2T3_chr16_88869858_88982207	88894454	G G	GCACACAT others(416): Show GCACACATGCACACACACATGCATACATATACACATGCACACAATGTACA CACATGCACGCACACATGCACACACACATGCATACATATACACATGCACA CAATGTACACACATGCACGCACACATGCACACACACATGCATACATATAC ACATGCACACAATGTACACACATGCACGCACACATGCACACACACATGCA TACATATACACATGCACACAATGTACACACATGCACGCACACATGCACAC ACATGCATACATATACACATGCACACAATGTACACACATGCACGCACACA TGCACACACACATGCATACATATACACATGCACACAATGTACACACATGC ACGCACACATGCACACACACATGCATACATATACACATGCACACAATGTA CACACATGCACGCACACATGCACA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	187	0.0053	423	c.380 others(440): Show c.380-1970_380-1969insTGTGCATGTGTGCGTGCATGTGTGTACA TTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCAT GTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTG TGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGT GCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCA TGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTAT ATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTG CATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGTGTA CATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(416): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATA TTTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATTAAAATAAATATTTATTTTAATATATAAAATAAATATTTA TTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	92	0.0109	423	c.80- others(438): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATTAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATATTTTATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251534	A A	ATAAAATA others(416): Show ATAAAATAAATATTTATTTTAATATTAAAATAAATATTTATTTTATATAT TAAATAAATATTTATTTTATATATTAAAATAAATATTTATTTTATATATA AAATAAATATTTATTTAATATATAAAATAAATATTTATTTTAATATATAA AATAAATATTTATTTTAATATATAAAATATTTATTTTAATATATAAAATA AATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATA AATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATA AATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATA AATATTTATTTTAATATATTAAAATAAATATTTATTTTATTTATTTATTT TAATATATAAAATATTTTATTTAT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	322	0.0031	423	c.80- others(438): Show c.80-4974_80-4973insAAAATAAATATTTATTTTAATATTAAAATA AATATTTATTTTATATATTAAATAAATATTTATTTTATATATTAAAATAA ATATTTATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAAT ATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATT TATTTTATTTATTTATTTTAATATATAAAATATTTTATTTATT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar

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