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
ZNF469_chr16_88377959_88445753	88401471	A A	ATGGATGG others(187): Show ATGGATGGATGGATGGATGGATGGATGGATGCTGGGGTGGGTGGATGGGT GAGTGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGA GTGGATGGATGGTGGATGGATGGGTGGATGGATGGATGGTGGATAGATGG ATACATGGGTGGATGAATAGGTAGATGGATGGATAGATGGGCGAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0082 a0082	a0082c0173 a0082c0173	a0082c0173t0003 a0082c0173t0003	a0082c0173t0003g0027 a0082c0173t0003g0027	1	316	0.0032	194	c.-19 others(215): Show c.-192+18239_-192+18240insGATGGATGCTGGGGTGGGTGGATG GGTGAGTGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGA TGAGTGGATGGATGGTGGATGGATGGGTGGATGGATGGATGGTGGATAGA TGGATACATGGGTGGATGAATAGGTAGATGGATGGATAGATGGGCGAGTG GATGGATGGATGGATGGATG	ZNF469	ENSG00000225614.4	transcript	ENST00000565624.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF469_chr16_88377959_88445753	88401518	G G	GATGGATG others(187): Show GATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGAGTGGATGGATGGTGGATGGATGGGTGGATGGATGGATGGTGGATAGA TGGATACATGGGTGGATGAATAGGTAGATGGGTGGATAGATGGGCGAGTG GATGGATGGATGGATGGATGCTGGGGTGGGTGGATGGGTGAGTGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG00099.hp2 HG00735.hp1	a0039 a0048 a0039 a0048	a0039c0135 a0048c0179 a0039c0135 a0048c0179	a0039c0135t0013 a0048c0179t0013 a0039c0135t0013 a0048c0179t0013	a0039c0135t0013g0166 a0048c0179t0013g0167 a0039c0135t0013g0166 a0048c0179t0013g0167	2	211	0.0095	194	c.-19 others(215): Show c.-192+18276_-192+18277insTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGAGTGGATGGATGGTGGATGGATGGGTGGATGGATG GATGGTGGATAGATGGATACATGGGTGGATGAATAGGTAGATGGGTGGAT AGATGGGCGAGTGGATGGATGGATGGATGGATGCTGGGGTGGGTGGATGG GTGAGTGAATGGATGGATGG	ZNF469	ENSG00000225614.4	transcript	ENST00000565624.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF470_chr19_56562468_56587894	56572377	T T	TATATACA others(187): Show TATATACACATATATATATATGTATATATATATATACACATATATATATA TGTATATATATATATACACATATATATATATGTATATATATATATACACA TATATATATATGTATATATATATATACACATATATATATATGTATATATA TATATACACATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18943.hp2 HG02165.hp1 NA18943.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0096 a0004c0005t0002g0106 a0004c0005t0002g0096 a0004c0005t0002g0106	2	326	0.0061	194	c.60+ others(209): Show c.60+2011_61-2011insCACATATATATATATGTATATATATATATA CACATATATATATATGTATATATATATATACACATATATATATATGTATA TATATATATACACATATATATATATGTATATATATATATACACATATATA TATATGTATATATATATATACACATATATATATATATATATATATATATA TATATACACATATA	ZNF470	ENSG00000197016.12	transcript	ENST00000330619.13	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF681_chr19_23734195_23763891	23761901	A A	ATCCTTCC others(187): Show ATCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	287	0.0035	194	c.-31 others(205): Show c.-3153_-3152insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAG GAAGGAAGGA	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		3011		chr19	TogoVar
ZNF681_chr19_23734195_23763891	23761922	T T	TCCTTCCT others(187): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG02615.hp1 NA18956.hp2 HG01169.hp1 HG02615.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0003g0165 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0003g0165	3	267	0.0112	194	c.-31 others(205): Show c.-3174_-3173insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGG	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		3032		chr19	TogoVar
ACACA_chr17_37079992_37411836	37099530	A A	AGGAGGGC others(188): Show AGGAGGGCTGATGGGAGGAGGGCTGATGGCGGGAGGGCTGAGGGATGGAG GGCTGATGGCGGGAGGGCTGATGGCGGGAGGGCTGATGGCAGGAGGGCTG ATGGCGGGAGGGCTGATGGGAGGAGGGCTGATGGCGGGAGGGCTGATGGC AGGAGGGCTGATGGCGGGAGGGCTGATGGCGGGAGGGCTGATGGCG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	175	0.0057	195	c.656 others(214): Show c.6566-1547_6566-1546insCGCCATCAGCCCTCCCGCCATCAGCC CTCCCGCCATCAGCCCTCCTGCCATCAGCCCTCCCGCCATCAGCCCTCCT CCCATCAGCCCTCCCGCCATCAGCCCTCCTGCCATCAGCCCTCCCGCCAT CAGCCCTCCCGCCATCAGCCCTCCATCCCTCAGCCCTCCCGCCATCAGCC CTCCTCCCATCAGCCCTCC	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	52/55			chr17	TogoVar
ACTN4_chr19_38642649_38736589	38735883	G G	GGGGGTTC others(188): Show GGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTG GGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGGC GGGGCGGGGGTTCTGGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGC GGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGGCGGTGGTTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0292 a0001c0002t0001g0292	1	255	0.0039	195	c.64 others(206): Show c.6451_*6452insGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGC GGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGG TTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGTGGTTCTG CGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGGC GGTGGTTCTGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4295		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735908	G G	GGGGCGGG others(188): Show GGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGCGGGGCG GGGCGGGCGGGGCGGGCGGGGCGGGGCGGGGCGGGCGGGGCGGGGCGGGG CGGGCGGGGCGGGGCGGGGCGGGCGGGGCGGGGCGGGGCGGGCGGGGCGG GGCGGGCGGGGCGGGGCGGGGCGGGCGGGGCGGGGCGGGGCGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0222 a0001c0004t0005g0222	1	287	0.0035	195	c.64 others(206): Show c.6476_*6477insGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGC GGGGCGGGCGGGGCGGGGCGGGCGGGGCGGGCGGGGCGGGGCGGGGCGGG CGGGGCGGGGCGGGGCGGGCGGGGCGGGGCGGGGCGGGCGGGGCGGGGCG GGGCGGGCGGGGCGGGGCGGGCGGGGCGGGGCGGGGCGGGCGGGGCGGGG CGGGGCGGGCG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4320		chr19	TogoVar
ADAMTS14_chr10_70667506_70767441	70688900	A A	AGGTGGTA others(188): Show AGGTGGTAGAGGTAGAGGTGGTAGAGGTAGAGGTGGTAGAGGTAGAGGTG GTAGAGGTAGAGGTGGTAGAGGTAGAGGTGGTAGAGGTAGAGGTGGTAGA GGTAGAGGTGGTAGAGGTAGAGGTGGTAGAGGTAGAGGTAGAGGTAGAGG TAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGG	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA20300.hp1 HG02976.hp2 NA20300.hp1	a0001 a0019 a0001 a0019	a0001c0004 a0019c0034 a0001c0004 a0019c0034	a0001c0004t0003 a0019c0034t0054 a0001c0004t0003 a0019c0034t0054	a0001c0004t0003g0330 a0019c0034t0054g0329 a0001c0004t0003g0330 a0019c0034t0054g0329	2	346	0.0058	195	c.523 others(214): Show c.523-13410_523-13409insTGGTAGAGGTAGAGGTGGTAGAGGTA GAGGTGGTAGAGGTAGAGGTGGTAGAGGTAGAGGTGGTAGAGGTAGAGGT GGTAGAGGTAGAGGTGGTAGAGGTAGAGGTGGTAGAGGTAGAGGTGGTAG AGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAG GTAGAGGTAGAGGTAGGGG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS17_chr15_99966437_100346975	100276218	G G	GTGGGAGG others(188): Show GTGGGAGGGAGTGGGTGCCTGGCGGGAGGGTGGGAGGGTGTGGGTGCCTG GTGGGAGGGTGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGGAGGGAGTG GGTGCCTGGTGGGAGGGTGGAAGGGAGTGGGTGCCTGGTGGGAGGGTGGG AGGGTGTGGGTGCCTGGTGGGAGGGAGTGGGTGCCTGGTGGGAGAA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0050 a0004c0008t0003g0050	1	226	0.0044	195	c.789 others(212): Show c.789+5010_789+5011insTTCTCCCACCAGGCACCCACTCCCTCCC ACCAGGCACCCACACCCTCCCACCCTCCCACCAGGCACCCACTCCCTTCC ACCCTCCCACCAGGCACCCACTCCCTCCCACCCTCCCACCAGGCACCCAC TCCCTCCCACCCTCCCACCAGGCACCCACACCCTCCCACCCTCCCGCCAG GCACCCACTCCCTCCCA	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
ADAMTS3_chr4_72275969_72574221	72456152	A A	ATATATAG others(188): Show ATATATAGTATATATACTGTATATACTATATATATTTTATATATAGTATA TATACTGTATATACTATATATATTTTATATATAGTATATATACTGTATAT ACTATATATATTTTATATATATTTTATATATAGTATGTACTCTATATATT TTATATATAGTATGTACTCTATATATTTTATATATAGTATGTACTC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	155	0.0065	195	c.505 others(214): Show c.505-41182_505-41181insGAGTACATACTATATATAAAATATAT AGAGTACATACTATATATAAAATATATAGAGTACATACTATATATAAAAT ATATATAAAATATATATAGTATATACAGTATATATACTATATATAAAATA TATATAGTATATACAGTATATATACTATATATAAAATATATATAGTATAT ACAGTATATATACTATATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADARB2_chr10_1172313_1742525	1238371	T T	TCCCCTCT others(188): Show TCCCCTCTGTCTCCCGGTGTTCACTCCCCTCTGTCTCCCGGTGTTCACTC CCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CCCTCCCTCCCGGTGTTCACTCCCCCCTCCCTCCCGGTGTTTACTCCCCT CTGTCTCCCGGTGTTCACTCCCCTCTGTCTCCCGGTGTTCACTCCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0006 a0005c0010t0006	a0005c0010t0006g0014 a0005c0010t0006g0014	1	89	0.0112	195	c.136 others(214): Show c.1361+3759_1361+3760insGGGAGTGAACACCGGGAGACAGAGGG GAGTGAACACCGGGAGACAGAGGGGAGTAAACACCGGGAGGGAGGGGGGA GTGAACACCGGGAGGGAGGGGGGAGTAAACACCGGGAGGGAGAGGGGAGT AAACACCGGGAGGCAGGGGGGAGTGAACACCGGGAGACAGAGGGGAGTGA ACACCGGGAGACAGAGGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1326840	G G	GGCACAGC others(188): Show GGCACAGCGCCTCCCCACGGCCCAGCGCCTCCCCACGGCCCAGCGCCTCC CCACGGCCCAGCGCCTCCCCACTGCACAGCGCCTCCCCACGGCCCAGCGC CTCCCCACGGCCCAGCGCCTCCCCACGGCCCAGCGCCTCCCCACGGCCCA GCGCCTCCCCACTGCCCAGCGCCTCCCCACTGCACAGCGCCTCACT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	66	0.0152	195	c.107 others(216): Show c.1077+36187_1077+36188insAGTGAGGCGCTGTGCAGTGGGGAG GCGCTGGGCAGTGGGGAGGCGCTGGGCCGTGGGGAGGCGCTGGGCCGTGG GGAGGCGCTGGGCCGTGGGGAGGCGCTGGGCCGTGGGGAGGCGCTGTGCA GTGGGGAGGCGCTGGGCCGTGGGGAGGCGCTGGGCCGTGGGGAGGCGCTG GGCCGTGGGGAGGCGCTGTGC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1326984	G G	GGCCCAGC others(188): Show GGCCCAGCGCCTCCCCACTGCCCAGCGCCTCCCCACTGCCCAGCGCCTCC CCACGGCACAGCGCCTCCCCACGGCACAGCGCCTCCCCACTGCCCAGCGC CTCCCCACTGCACAGCGCCTCACTGCACAGCGCCTCCCCACTGCCCAGCG CCTCCCCACGGCACAGCGCCTCCCCACTGCCCAGCGCCTCCCCACT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0032 a0002c0002t0026g0032	1	67	0.0149	195	c.107 others(216): Show c.1077+36043_1077+36044insAGTGGGGAGGCGCTGGGCAGTGGG GAGGCGCTGTGCCGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGTGCAG TGAGGCGCTGTGCAGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGTGCC GTGGGGAGGCGCTGTGCCGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTG GGCAGTGGGGAGGCGCTGGGC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADGRL3_chr4_61195326_62083335	61847942	A A	ATATATAA others(188): Show ATATATAATATAAAATATATTATATATAATATAAAATATATTATATATAA TATAAAATATATTATACATATAATATAAAATATATTATACATATAATATA AAATATATTATACATATAATATAAAATATATTATATATATAATATAAAAT ATATTATATATAATATAAAATATATTATATATAATATAAAATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0027 a0001c0005t0027	a0001c0005t0027g0011 a0001c0005t0027g0011	1	53	0.0189	195	c.148 others(216): Show c.1480+34059_1480+34060insATATAAAATATATTATATATAATA TAAAATATATTATATATAATATAAAATATATTATACATATAATATAAAAT ATATTATACATATAATATAAAATATATTATACATATAATATAAAATATAT TATATATATAATATAAAATATATTATATATAATATAAAATATATTATATA TAATATAAAATATATTATATA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADGRL3_chr4_61195326_62083335	61847965	A A	ATATATAA others(188): Show ATATATAATATAAAATATATTATATATAATATAAAATATATTATACATAT AATATAAAATATATTATATATATAATATAAAATATATTATATATATAATA TAAAATATATTATATATATAATATAAAATATATTATATATAATATAAAAT ATATTATATATAATATAAAATATATTATATATAATATAAAATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0017 a0001c0007t0017	a0001c0007t0017g0001 a0001c0007t0017g0001	1	52	0.0192	195	c.148 others(216): Show c.1480+34082_1480+34083insATATAAAATATATTATATATAATA TAAAATATATTATACATATAATATAAAATATATTATATATATAATATAAA ATATATTATATATATAATATAAAATATATTATATATATAATATAAAATAT ATTATATATAATATAAAATATATTATATATAATATAAAATATATTATATA TAATATAAAATATATTATATA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
AGPAT2_chr9_136668143_136692457	136671231	G G	GGGGGGGC others(188): Show GGGGGGGCAGGCAGTCCAGGGTGGACCTGCTGGAGGAGGTGAGGTGTGGA GGGGCAGGCAGTCCAGGGTGAACCTGCTGGAGGAGGTGAGGCATCGGGGG GGTAGGCAGGCAGTCCAGGGTGGACCTGCTGGAGGAGGTGAGGCGTCGGG GGGGCAGGCAGTCCAGGGTGGACCTGCTGGAGGAGGTGAGGCGTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0189 a0001c0001t0005g0189	1	310	0.0032	195	c.25 others(206): Show c.2520_*2521insTGACGCCTCACCTCCTCCAGCAGGTCCACCCTGG ACTGCCTGCCCCCCCGACGCCTCACCTCCTCCAGCAGGTCCACCCTGGAC TGCCTGCCTACCCCCCCGATGCCTCACCTCCTCCAGCAGGTTCACCCTGG ACTGCCTGCCCCTCCACACCTCACCTCCTCCAGCAGGTCCACCCTGGACT GCCTGCCCCCC	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding		1911		chr9	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(188): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGAAGGGGGAGGGGAGGGGGGGGAGGGGGAGA GGGGGAGGGGAGGGGGGAGAGGGGGAGGGGAGGGGGAGAGGGGGGAGGGG AGAGGGGAGAGAGAAGGGAGAGAGGGGGGAGGGGGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0124 a0001c0001t0018g0124	1	36	0.0278	195	c.667 others(210): Show c.667-817_667-816insTCTCCCTCTCCCCCCCTCCCCCCTCTCTCC CTTCTCTCTCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCTCTC CCCCCTCCCCTCCCCCTCTCCCCCTCCCCCCCCTCCCCTCCCCCTTCCCC TCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTCCCCCC TCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406096	A A	AGGGGGAG others(188): Show AGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGAG GGGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGGAGGGGAGGGGGGAGA GGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGAGGGGAGAGAGAAGGGA GAGAGGGGGAGGGGGGGAGAGGGGAGAGGAGAGAGAGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0217 a0001c0001t0009g0217	1	108	0.0093	195	c.667 others(210): Show c.667-853_667-852insCTCCCCCTCCTCTCTCTCCTCTCCCCTCTC CCCCCCTCCCCCTCTCTCCCTTCTCTCTCCCCTCTCCCCTCCCCCCTCTC CCCCTCCCCTCCCCCCTCTCCCCCCTCCCCTCCCCCCTTCCCCCTCTCCC CCCTCTCCCCCCTCCCCTCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTC TCCCCCCTCTCCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89306380	T T	TTACCTCC others(188): Show TTACCTCCCACTCCGCAGACACGCGCCACCTCCCACTCCGCAGACACGCG CCACCCACCTCCCACTCCGCAGACACGCGCCACCCACCTCCCACTCCGCA GACACGCGCCACCCACCTCCCACTCCGCAGACACGCGCCACCTCCCACTC CGCAGACACGCGCCACCCACCTCCCACTCCGCAGACACGCGCCACC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01123.hp1 HG01261.hp2 others(1): Show HG01070.hp2 HG01123.hp1 HG01261.hp2 HG01346.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0001 a0007c0012t0001 a0001c0001t0001 a0007c0012t0001	a0001c0001t0001g0158 a0007c0012t0001g0128 a0007c0012t0001g0156 others(1): Show a0001c0001t0001g0158 a0007c0012t0001g0128 a0007c0012t0001g0156 a0007c0012t0001g0159	4	124	0.0323	195	c.88- others(210): Show c.88-1037_88-1036insGGTGGCGCGTGTCTGCGGAGTGGGAGGTGG GTGGCGCGTGTCTGCGGAGTGGGAGGTGGCGCGTGTCTGCGGAGTGGGAG GTGGGTGGCGCGTGTCTGCGGAGTGGGAGGTGGGTGGCGCGTGTCTGCGG AGTGGGAGGTGGGTGGCGCGTGTCTGCGGAGTGGGAGGTGGCGCGTGTCT GCGGAGTGGGAGGTA	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89306380	T T	TTACCTCC others(188): Show TTACCTCCCACTCCGCAGACACGCGCCACCTCCCACTCCGCAGACACGCG CCACCCACCTCCCACTCCGCAGACACGCGCCACCCACCTCCCACTCCGCA GACACGCGCCACCCACCTCCCACTCCGCAGACACGCGCCACCTCCCACTC CGCAGACACGCGCCACCTACCTCCCACTCCGCAGACACGCGCCACC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(88): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01975.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp2 NA18522.hp2 NA18947.hp2 NA18957.hp2 NA18977.hp2 NA18980.hp1 NA18984.hp2 NA19000.hp2 NA19009.hp2 NA19043.hp1 NA19067.hp2 NA19080.hp1 NA19083.hp1 NA19083.hp2 NA19086.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0008 a0011 a0016 a0023 a0024 a0033 a0034	a0001c0001 a0001c0007 a0001c0018 others(16): Show a0001c0001 a0001c0007 a0001c0018 a0001c0022 a0001c0051 a0001c0054 a0001c0055 a0002c0002 a0003c0017 a0003c0025 a0003c0031 a0008c0059 a0011c0048 a0011c0057 a0016c0058 a0023c0027 a0024c0049 a0033c0043 a0034c0052	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0007t0001 a0001c0018t0001 a0001c0022t0001 a0001c0051t0001 a0001c0054t0001 a0001c0055t0001 a0002c0002t0001 a0002c0002t0002 a0003c0017t0003 a0003c0025t0001 a0003c0031t0001 a0008c0059t0001 a0011c0048t0012 a0011c0057t0001 a0016c0058t0001 a0023c0027t0001 a0024c0049t0001 a0033c0043t0001 a0034c0052t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(88): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0103 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0213 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0281 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0002g0224 a0001c0001t0002g0292 a0001c0001t0006g0248 a0001c0007t0001g0070 a0001c0007t0001g0093 a0001c0007t0001g0145 a0001c0007t0001g0146 a0001c0007t0001g0235 a0001c0018t0001g0266 a0001c0018t0001g0278 a0001c0022t0001g0125 a0001c0022t0001g0263 a0001c0051t0001g0011 a0001c0054t0001g0050 a0001c0055t0001g0097 a0002c0002t0001g0272 a0002c0002t0002g0151 a0003c0017t0003g0026 a0003c0017t0003g0197 a0003c0025t0001g0178 a0003c0031t0001g0041 a0008c0059t0001g0264 a0011c0048t0012g0065 a0011c0057t0001g0124 a0016c0058t0001g0012 a0023c0027t0001g0275 a0024c0049t0001g0265 a0033c0043t0001g0176 a0034c0052t0003g0121	91	211	0.4313	195	c.88- others(210): Show c.88-1037_88-1036insGGTGGCGCGTGTCTGCGGAGTGGGAGGTAG GTGGCGCGTGTCTGCGGAGTGGGAGGTGGCGCGTGTCTGCGGAGTGGGAG GTGGGTGGCGCGTGTCTGCGGAGTGGGAGGTGGGTGGCGCGTGTCTGCGG AGTGGGAGGTGGGTGGCGCGTGTCTGCGGAGTGGGAGGTGGCGCGTGTCT GCGGAGTGGGAGGTA	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12			chr16	TogoVar
ANKS1B_chr12_98738974_99989936	99139343	T T	TTCCCTCC others(188): Show TTCCCTCCCTCCTTCTCTCTCTTTTTCTCCCTTCCCTCCCTCCCTCCCTC CCTCCCTTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCCTTTCCCTTCCTT CTTTCTTTCCTCCTTTCTTTCCTTTCCTTCCTTCCTTCCCTTCCCTTCTT CCTTTCTTCCTTCCTTCCTTTCTTCCTTCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0010 a0001c0004t0002g0010	1	4	0.2500	195	c.252 others(216): Show c.2526+14945_2526+14946insGGGAGGGAGGGAGGGAGGAAGGAA GAAAGGAAGGAAGGAAGAAAGGAAGAAGGGAAGGGAAGGAAGGAAGGAAA GGAAAGAAAGGAGGAAAGAAAGAAGGAAGGGAAAGGGAAGGGAGGAGGGA GGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAAGGGAGAAAA AGAGAGAGAAGGAGGGAGGGA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
AP3D1_chr19_2095988_2156566	2128586	C C	CCCCACAG others(188): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTC CGACACTGCACCCCGTGGAGCCGGCCCACCTCACAGCTCCGACACTGCAC CCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCC GGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	399	0.0025	195	c.806 others(210): Show c.806+503_806+504insCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGC GGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGAGGTGGGCCGGCTCC ACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCTGTGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128983	C C	CCCCACAG others(188): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTC CGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCAC CCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGC CGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18985.hp1 NA18962.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0371 a0001c0001t0003g0373 a0001c0001t0003g0371 a0001c0001t0003g0373	2	391	0.0051	195	c.806 others(210): Show c.806+106_806+107insCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGC GGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCC ACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCTGTGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128983	C C	CCCCACAG others(188): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTC CGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCA CCCCGTGGAGCTGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGC CGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0026 a0001c0003t0002g0026	1	390	0.0026	195	c.806 others(210): Show c.806+106_806+107insCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCG GGCCAGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCC ACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCTGTGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ARHGAP19_chr10_97217179_97297637	97251904	T T	TTTCCGCT others(188): Show TTTCCGCTCTTTTCTTTTCTTTCCTCTCCTCCCCCTTTCCTTTCTTCCTT CCGTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCCTCTCTTCCCTCCCCTT CCCTCACCCCCCCCCCCCCCCACCCCCCCTCATCACAGCGTCATTCCCCC CACACCCTCCCTTTCCCCCGTCAACATCCCCAACTGGCAACCCATC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	240	0.0042	195	c.927 others(212): Show c.927+4413_927+4414insGATGGGTTGCCAGTTGGGGATGTTGACG GGGGAAAGGGAGGGTGTGGGGGGAATGACGCTGTGATGAGGGGGGGTGGG GGGGGGGGGGGGTGAGGGAAGGGGAGGGAAGAGAGGAAAGAAAGAAGAAA GAAAGAAAGAAAGAACGGAAGGAAGAAAGGAAAGGGGGAGGAGAGGAAAG AAAAGAAAAGAGCGGAA	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGEF10_chr8_1818926_1963641	1860416	C C	CGATGTGG others(188): Show CGATGTGGCCTGTGGTTCCGTAGAGTCCGGGCCTAACCTTCCCCCCTCCT CCTCCTCTCCATGCCCCCGATGTGGCCTGTGGTTCCGTAGAGTCTGGGCC TGACCTTCCCTCCTCCTCCTCTCCATGCCCCTGATGTGGCCTGTGGTTCC GTAGAGTCCGGGCCTGACCTTCCCTCCTCCTCCTCTCCATGCCCCT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18974.hp2 NA18961.hp2 NA18974.hp2	a0001 a0001	a0001c0070 a0001c0071 a0001c0070 a0001c0071	a0001c0070t0001 a0001c0071t0002 a0001c0070t0001 a0001c0071t0002	a0001c0070t0001g0165 a0001c0071t0002g0164 a0001c0070t0001g0165 a0001c0071t0002g0164	2	354	0.0056	195	c.481 others(210): Show c.481+258_481+259insCGGGCCTAACCTTCCCCCCTCCTCCTCCTC TCCATGCCCCCGATGTGGCCTGTGGTTCCGTAGAGTCTGGGCCTGACCTT CCCTCCTCCTCCTCTCCATGCCCCTGATGTGGCCTGTGGTTCCGTAGAGT CCGGGCCTGACCTTCCCTCCTCCTCCTCTCCATGCCCCTGATGTGGCCTG TGGTTCCGTAGAGTC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1888173	G G	GTGAGTGG others(188): Show GTGAGTGGGGTGAGGGTTTGCGAGGAGACACTTAGTGGGGCGAGGGTTTG CGAGGAGACACTTAGTGGGGCGAGGGTTGCGAGGAGACCCTGAGTGGGGT GAGGGTTGTGAGGAGATACTGAGGTGATAGTTTTGAGGAGACAGTGGGGT GAGAGTTGTGAGGAGACACTGAGTGTGGAGGGCTGTGAGGAGGCAC	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18980.hp2 HG02040.hp2 NA18980.hp2	a0001 a0006 a0001 a0006	a0001c0116 a0006c0113 a0001c0116 a0006c0113	a0001c0116t0010 a0006c0113t0004 a0001c0116t0010 a0006c0113t0004	a0001c0116t0010g0125 a0006c0113t0004g0300 a0001c0116t0010g0125 a0006c0113t0004g0300	2	336	0.0060	195	c.118 others(214): Show c.1182+2513_1182+2514insTGCGAGGAGACACTTAGTGGGGCGAG GGTTGCGAGGAGACCCTGAGTGGGGTGAGGGTTGTGAGGAGATACTGAGG TGATAGTTTTGAGGAGACAGTGGGGTGAGAGTTGTGAGGAGACACTGAGT GTGGAGGGCTGTGAGGAGGCACTGAGTGGGGTGAGGGTTTGCGAGGAGAC ACTTAGTGGGGCGAGGGTT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(188): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	192	0.0052	195	c.102 others(212): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCT CCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCC CCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(188): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0228 a0003c0003t0001g0228	1	192	0.0052	195	c.102 others(212): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCC CCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(188): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCC CCTCCCGCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCT CCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0002 a0001c0001t0013g0002	1	72	0.0139	195	c.102 others(212): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCCCTCCCCCTCC CCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCC CCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ASCL3_chr11_8932578_8948016	8936601	G G	GCCGGCTA others(188): Show GCCGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02976.hp1 HG01109.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	2	434	0.0046	195	c.10 others(206): Show c.1014_*1015insGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACAAA AAATTAGCCGG	ASCL3	ENSG00000176009.4	transcript	ENST00000531618.2	protein_coding		976		chr11	TogoVar
ATAD3C_chr1_1444689_1475163	1461621	T T	TCTCCTCA others(188): Show TCTCCTCATGAGACCCCCATGTCGGAATTCGAAGGAGAGGCTCCTCATGA GACCCCCATGTAGGGACTGGAGGGAGAGGCTCCTCATGAGACCCCCATGT AGGGACTGGAGGGAGAGGCTCCTCATGAGACCCCCATGTCGGAATTCGAA GGAGAGTCTCCTCATGAGACCCCCATGTCGGAATTCGAAGGAGAGG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	213	0.0047	195	c.980 others(210): Show c.980+725_980+726insCGGAATTCGAAGGAGAGGCTCCTCATGAGA CCCCCATGTAGGGACTGGAGGGAGAGGCTCCTCATGAGACCCCCATGTAG GGACTGGAGGGAGAGGCTCCTCATGAGACCCCCATGTCGGAATTCGAAGG AGAGTCTCCTCATGAGACCCCCATGTCGGAATTCGAAGGAGAGGCTCCTC ATGAGACCCCCATGT	ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATOH8_chr2_85748991_85796383	85767580	T T	TCCTTCCC others(188): Show TCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCCCCACTCCC CTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCC CTCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTTCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0249 a0002c0005t0006g0249	1	92	0.0109	195	c.960 others(212): Show c.960+3406_960+3407insCCCCTGCCCTCCCCTCACTTCCTCCCTC CCTCCCCACTCCCCTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTT CCTCCCTCCCTCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCTCCCCTCCC CTCCCCTCCCCTTCCCT	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GNTL1_chr17_82937149_83056770	82971630	G G	GAAGGACC others(188): Show GAAGGACCCGGTGCCGACCACACCACACCACAGGGGCCAGAAGGACCCGG TGCCGACCACACCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACA CCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAG GGGCCACAAGGACCTGGTGCCGACCACACCACACCACAGGGGCCAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0200 a0001c0003t0020g0200	1	266	0.0038	195	c.460 others(212): Show c.460-5885_460-5884insGTGGCCCCTGTGGTGTGGTGTGGTCGGC ACCAGGTCCTTGTGGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTT CTGGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGT GGTGTGGTGTGGTCGGCACCGGGTCCTTCTGGCCCCTGTGGTGTGGTGTG GTCGGCACCGGGTCCTT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82971835	G G	GTACTGAC others(188): Show GTACTGACCACACCACACCACAGGGGATAGAAGGACCCACTACTGACCAC ACCACACCACAGGGGCTAGAAGGACCTGGTACTGACCACACCACACCACA GGGGATAGAAGGACCCGGTACTGACCACACCACACCACAGGGGCCAGAAG GACCTGGTACTGACCACACCACACCACAGGGGATAGAAGGACCCAC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0003 a0002c0015t0003	a0002c0015t0003g0024 a0002c0015t0003g0024	1	264	0.0038	195	c.460 others(212): Show c.460-6090_460-6089insGTGGGTCCTTCTATCCCCTGTGGTGTGG TGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTA CCGGGTCCTTCTATCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTC TAGCCCCTGTGGTGTGGTGTGGTCAGTAGTGGGTCCTTCTATCCCCTGTG GTGTGGTGTGGTCAGTA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	374684	C C	CAGGGAGG others(188): Show CAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGAGGAAGGA GGGAGGAGGAAGGGAGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0085 a0002c0004t0002g0085	1	155	0.0065	195	c.784 others(210): Show c.784-766_784-765insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGG AGGAAGGAGGGAGGAGGAAGGGAGGAGGGAGGAGGAAGGGAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGG AGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375020	G G	GAGGGAGG others(188): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	83	0.0120	195	c.784 others(210): Show c.784-434_784-433insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALT1_chr9_33105642_33172336	33126594	A A	AAACATTG others(188): Show AAACATTGTTAACTATGGTTAACCATAGTTAACCATTGTTAACATTGTTA ACTATGGTTAACCATAGTTAACCATTGTTAACATTGTTAACTATGGTTAA CCATAGTTAACCATTGTTAACATTGTTAACTATGGTTAACCATAGTTAAC CATTGTTAACATTGTTAACTATGGTTAACCATAGTTAACCATTGTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	259	0.0039	195	c.649 others(212): Show c.649-5989_649-5988insAACAATGGTTAACTATGGTTAACCATAG TTAACAATGTTAACAATGGTTAACTATGGTTAACCATAGTTAACAATGTT AACAATGGTTAACTATGGTTAACCATAGTTAACAATGTTAACAATGGTTA ACTATGGTTAACCATAGTTAACAATGTTAACAATGGTTAACTATGGTTAA CCATAGTTAACAATGTT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	2/5			chr9	TogoVar
B4GALT1_chr9_33105642_33172336	33126594	A A	AAACATTG others(188): Show AAACATTGTTAACTATGGTTAACCATAGTTAACCATTGTTAACATTGTTA ACTATGGTTAACCATAGTTAACCATTGTTAACATTGTTAACTATTGTTAA CCATAGTTAACCATTGTTAACATTGTTAACTATGGTTAACCATAGTTAAC CATTGTTAACATTGTTAACTATGGTTAACCATAGTTAACCATTGTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	259	0.0039	195	c.649 others(212): Show c.649-5989_649-5988insAACAATGGTTAACTATGGTTAACCATAG TTAACAATGTTAACAATGGTTAACTATGGTTAACCATAGTTAACAATGTT AACAATGGTTAACTATGGTTAACAATAGTTAACAATGTTAACAATGGTTA ACTATGGTTAACCATAGTTAACAATGTTAACAATGGTTAACTATGGTTAA CCATAGTTAACAATGTT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	2/5			chr9	TogoVar
B4GALT1_chr9_33105642_33172336	33126594	A A	AAACATTG others(188): Show AAACATTGTTAACTATTGTTAACCATAGTTAACCATTGTTAACATTGTTA ACTATTGTTAACCATAGTTAACCATTGTTAACATTGTTAACTATTGTTAA CCATAGTTAACCATTGTTAACATTGTTAACTATTGTTAACCATAGTTAAC CATTGTTAACATTGTTAACTATTGTTAACCATAGTTAACCATTGTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0155 a0001c0001t0016g0155	1	259	0.0039	195	c.649 others(212): Show c.649-5989_649-5988insAACAATGGTTAACTATGGTTAACAATAG TTAACAATGTTAACAATGGTTAACTATGGTTAACAATAGTTAACAATGTT AACAATGGTTAACTATGGTTAACAATAGTTAACAATGTTAACAATGGTTA ACTATGGTTAACAATAGTTAACAATGTTAACAATGGTTAACTATGGTTAA CAATAGTTAACAATGTT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	2/5			chr9	TogoVar
B4GALT1_chr9_33105642_33172336	33126610	T T	TGTTAACC others(188): Show TGTTAACCATAGTTAACCATTGTTAACATTGTTAACTATGGTTAACCATA GTTAACCATTGTTAACATTGTTAACTATGGTTAACCATAGTTAACCATTG TTAACATTGTTAACTATGGTTAACCATAGTTAACCATTGTTAACATTGTT AACTATGGTTAACCATAGTTAACCATTGTTAACATTGTTAACTATG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	277	0.0036	195	c.649 others(212): Show c.649-6005_649-6004insCATAGTTAACAATGTTAACAATGGTTAA CTATGGTTAACCATAGTTAACAATGTTAACAATGGTTAACTATGGTTAAC CATAGTTAACAATGTTAACAATGGTTAACTATGGTTAACCATAGTTAACA ATGTTAACAATGGTTAACTATGGTTAACCATAGTTAACAATGTTAACAAT GGTTAACTATGGTTAAC	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	2/5			chr9	TogoVar
B4GALT1_chr9_33105642_33172336	33126610	T T	TGTTAACC others(188): Show TGTTAACCATAGTTAACCATTGTTAACATTGTTAACTATTGTTAACCATA GTTAACCATTGTTAACATTGTTAACTATTGTTAACCATAGTTAACCATTG TTAACATTGTTAACTATGGTTAACCATAGTTAACCATTGTTAACATTGTT AACTATGGTTAACCATAGTTAACCATTGTTAACATTGTTAACTATG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02135.hp2 HG04199.hp2 others(3): Show HG01981.hp2 HG02135.hp2 HG04199.hp2 NA18971.hp1 NA18975.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0008 a0001c0001t0001g0106 a0001c0001t0001g0144 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0106 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0026g0102	6	282	0.0213	195	c.649 others(212): Show c.649-6005_649-6004insCATAGTTAACAATGTTAACAATGGTTAA CTATGGTTAACCATAGTTAACAATGTTAACAATGGTTAACTATGGTTAAC CATAGTTAACAATGTTAACAATGGTTAACTATGGTTAACAATAGTTAACA ATGTTAACAATGGTTAACTATGGTTAACAATAGTTAACAATGTTAACAAT GGTTAACTATGGTTAAC	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	2/5			chr9	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(188): Show GGGAGGGAGAGGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGG GGAAGGAGAGGGGGATGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGAG GGGGGAGGGGAGGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGAC TGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0154 a0001c0001t0004g0154	1	2	0.5000	195	c.51+ others(208): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCCTCCCCTCCCCCCTCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCAT CCCCCTCTCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCC CCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BCHE_chr3_165767904_165842423	165797259	T T	TCCCCCCT others(188): Show TCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC CCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCT CCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCC CCCTCCCTTCCTTCCTTCCTTCCTTCCTCCTTCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	80	0.0125	195	c.151 others(216): Show c.1518-10949_1518-10948insGGGAGGGAGGGAGGAAGGAGGAAG GAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAG GGAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAG GGAAGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAA GAAGGAAGGAAGGGAGGGGGG	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BCL11A_chr2_60452194_60558654	60467906	A A	ATGGTGGT others(188): Show ATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGATGGTGGTAGTGGT GATGGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGG TGGTGGTGGTGGTGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGATGGTA CTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	181	0.0055	195	c.487 others(210): Show c.487+825_487+826insCCACCATTACCACCACCATCACTACCACCA CCACCATCACCACCAGTACCATCACCACCACCACCATCACTACCACCACC ACCACCACCACCACCACCATTACCACCACCATCACTACCACCACCACCAT CACCACCAGTACCATCACCACTACCACCATCACTACCACCACCACCACCA TCACCACCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BFSP2_chr3_133395056_133480208	133425980	G G	GAGGGGGA others(188): Show GAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAAGGG GAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGG AGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAG GGGAAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAAGGCAGGGC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0196	1	151	0.0066	195	c.490 others(214): Show c.490-21336_490-21335insGGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGG AAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGA GGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGGAG GGGAGGGGAAGGCAGGGCA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BID_chr22_17729138_17779469	17753958	T T	TGGGGTGA others(188): Show TGGGGTGACATTCCCCCAGTCTCCAGGACTCTGCCGGACAGGGGTGACAT TCCCCCAGTCTCCAGGACTCTGCCGGACGGGGGTGACATTCCCCCAGTCT CCAGGACTCTGCAGGACAGGGGTGACATTCCCCCATTCTCCAGGACTCTG CCGGACGGGGGTGACATTCCCCCAGTCTCCAGGACTCTGCCGGACG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp2 HG02559.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0340 a0001c0001t0001g0063 a0001c0001t0001g0340	2	340	0.0059	195	c.-58 others(212): Show c.-58-3785_-58-3784insCGTCCGGCAGAGTCCTGGAGACTGGGGG AATGTCACCCCCGTCCGGCAGAGTCCTGGAGAATGGGGGAATGTCACCCC TGTCCTGCAGAGTCCTGGAGACTGGGGGAATGTCACCCCCGTCCGGCAGA GTCCTGGAGACTGGGGGAATGTCACCCCTGTCCGGCAGAGTCCTGGAGAC TGGGGGAATGTCACCCC	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5			chr22	TogoVar
C10orf90_chr10_126419997_126675693	126565147	A A	ATATGTAA others(188): Show ATATGTAATATAATATTTATATTACATATTATGTAATATAATATTTATAT TACATATTATGTAATATAATATTTATATTACATATTATGTAATATAATAT TTATATTACATATTATGTAATATAATATTTATATTACATATTATGTAATA TAATATTTAATTACATAATATGTAATATAATATTTATATTACATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0197 a0005c0006t0002g0197	1	164	0.0061	195	c.314 others(214): Show c.314-51209_314-51208insATATGTAATATAAATATTATATTACA TATTATGTAATTAAATATTATATTACATAATATGTAATATAAATATTATA TTACATAATATGTAATATAAATATTATATTACATAATATGTAATATAAAT ATTATATTACATAATATGTAATATAAATATTATATTACATAATATGTAAT ATAAATATTATATTACATA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126565147	A A	ATATGTAA others(188): Show ATATGTAATATAATATTTATATTACATATTATGTAATATAATATTTATAT TACATATTATGTAATATAATATTTATATTACATATTATGTAATATAATAT TTATATTACATATTATGTAATATAATATTTATATTACATATTATGTAATA TAATATTTATATTACATATTATGTAATATAATATTTAATTACATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp2 HG02809.hp1 others(3): Show HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02965.hp2 HG02976.hp1 NA18522.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0007	a0001c0001 a0003c0002 a0005c0006 others(1): Show a0001c0001 a0003c0002 a0005c0006 a0007c0018	a0001c0001t0001 a0001c0001t0005 a0003c0002t0006 others(2): Show a0001c0001t0001 a0001c0001t0005 a0003c0002t0006 a0005c0006t0001 a0007c0018t0003	a0001c0001t0001g0006 a0001c0001t0005g0039 a0001c0001t0005g0167 others(3): Show a0001c0001t0001g0006 a0001c0001t0005g0039 a0001c0001t0005g0167 a0003c0002t0006g0166 a0005c0006t0001g0027 a0007c0018t0003g0037	6	169	0.0355	195	c.314 others(214): Show c.314-51209_314-51208insATATGTAATTAAATATTATATTACAT AATATGTAATATAAATATTATATTACATAATATGTAATATAAATATTATA TTACATAATATGTAATATAAATATTATATTACATAATATGTAATATAAAT ATTATATTACATAATATGTAATATAAATATTATATTACATAATATGTAAT ATAAATATTATATTACATA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar

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