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
SLC12A7_chr5_1045384_1117063	1098431	G G	GGCCCCCT others(184): Show GGCCCCCTCTAACCCTCTGCTCACCCAGCCCTCCTCTAACATTCTGCACA CCCAGCCCCCTTCTAACCCTCTGCACACCCAGGCCCCCCTCTAACCCTCT GCACACCCAGGCCCCCCTCTAACCCTCTGCACACCCAGGCCCCCCTCTAA CCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCTCACCCA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02897.hp1 HG03453.hp2 others(5): Show HG02486.hp2 HG02897.hp1 HG03453.hp2 HG03579.hp2 NA18906.hp1 NA19030.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0010 others(1): Show a0001c0003 a0001c0007 a0001c0010 a0001c0017	a0001c0003t0003 a0001c0003t0017 a0001c0007t0005 others(2): Show a0001c0003t0003 a0001c0003t0017 a0001c0007t0005 a0001c0010t0005 a0001c0017t0004	a0001c0003t0003g0019 a0001c0003t0017g0018 a0001c0007t0005g0022 others(5): Show a0001c0003t0003g0019 a0001c0003t0017g0018 a0001c0007t0005g0022 a0001c0010t0005g0024 a0001c0010t0005g0025 a0001c0010t0005g0026 a0001c0017t0004g0020 a0001c0017t0004g0021	8	91	0.0879	191	c.125 others(208): Show c.125-4184_125-4183insTGGGTGAGCAGAGGGTTAGAGGGGGGCT GGGTGAGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGTTAGAGGG GGGCCTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGTT AGAAGGGGGCTGGGTGTGCAGAATGTTAGAGGAGGGCTGGGTGAGCAGAG GGTTAGAGGGGGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTGTATAT others(184): Show GTGTATATATATACACATGGTATATATATTCTACGTGTGTATATATATAC ACATAGTATATATATTCTACGTGTATGTATACACATATATACATAGAATA TATATACTATGTGTATATATATACGTAGAATATATATACTATGTGTATAT ATACGTAGAATATATATACTATGTGTACATATATACGTAGAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0065 a0001c0001t0009g0065	1	52	0.0192	191	c.174 others(210): Show c.174-83380_174-83379insGTATATATATACACATGGTATATATA TTCTACGTGTGTATATATATACACATAGTATATATATTCTACGTGTATGT ATACACATATATACATAGAATATATATACTATGTGTATATATATACGTAG AATATATATACTATGTGTATATATACGTAGAATATATATACTATGTGTAC ATATATACGTAGAAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC41A2_chr12_104796801_104963290	104923206	C C	CAAAAAAT others(184): Show CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG GGAGGCTGAGGCAGGAGAATGGCGTTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01258.hp2 HG02258.hp2 others(8): Show HG00099.hp2 HG01258.hp2 HG02258.hp2 HG02735.hp1 HG03492.hp1 HG03654.hp1 HG03831.hp1 HG06807.hp1 NA18943.hp1 NA18963.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0237 a0001c0001t0001g0292 a0001c0001t0001g0295 others(8): Show a0001c0001t0001g0237 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0011g0272 a0001c0001t0011g0319	11	290	0.0379	191	c.555 others(208): Show c.555+4766_555+4767insTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCAACGCCATTCTC CTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCC CGGCTAATTTTTT	SLC41A2	ENSG00000136052.10	transcript	ENST00000258538.8	protein_coding	2/10			chr12	TogoVar
SLC45A1_chr1_8313114_8349165	8331445	A A	AAACACTT others(184): Show AAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTA AAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTT TAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATT TTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG01069.hp2 others(27): Show HG00280.hp2 HG00733.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp2 HG01361.hp1 HG01516.hp1 HG02040.hp2 HG02155.hp2 HG02257.hp2 HG02523.hp1 HG02922.hp2 HG03017.hp2 HG03139.hp1 HG03490.hp2 HG04115.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18979.hp2 NA18983.hp2 NA19000.hp2 NA19030.hp2 NA19043.hp2 NA20129.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0002c0007 a0003c0014 a0005c0027	a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 others(4): Show a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0002c0007t0001 a0003c0014t0001 a0005c0027t0001	a0001c0001t0002g0145 a0001c0002t0001g0004 a0001c0002t0001g0069 others(21): Show a0001c0001t0002g0145 a0001c0002t0001g0004 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0230 a0001c0002t0001g0233 a0001c0002t0001g0241 a0001c0002t0001g0253 a0001c0003t0001g0015 a0001c0003t0001g0150 a0001c0003t0001g0219 a0001c0003t0001g0249 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0182 a0001c0003t0002g0246 a0001c0003t0002g0247 a0001c0003t0002g0250 a0002c0007t0001g0033 a0002c0007t0001g0229 a0002c0007t0001g0238 a0003c0014t0001g0236 a0005c0027t0001g0228	30	34	0.8824	191	c.144 others(208): Show c.1443+511_1443+512insCACTTTTAAAAAATATTTTTAAAAAACA CTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAA CACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAA AACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAA AAAACACTTTTAA	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A4_chr8_141202174_141313288	141203380	A A	ACCGTGGA others(184): Show ACCGTGGAGAGAGGGAGAGGGAGACCGTGGAGAGAGAGAGAGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGGGAGAG AGGGAGAGGGAGACCGTGGAGAGAGAGAGAGAGAGGGAGAGAGGGAGAGA GGGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGGGAGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0037 a0001c0003t0001g0037	1	179	0.0056	191	c.81 others(202): Show c.8191_*8192insCCTCTCTCCCTCTCTCTCTCTCTCCCTCTCTCCC TCTCTCCCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTCTCCACGGTCTCC CTCTCCCTCTCTCCCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCCCTCT CTCCCTCTCTCCCTCTCTCTCTCTCTCTCCACGGTCTCCCTCTCCCTCTC TCCACGG	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3793		chr8	TogoVar
SLC66A2_chr18_79897420_79956653	79952593	G G	GGGGTGAG others(184): Show GGGGTGAGGGGAGCGCGGGTGAAGTGTGAGGGGAGCGCGGGTGAGGGGTG AGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGC GCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAAGAGTGAGGGGAGCGCGG GTGAAGTGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02258.hp1 HG02615.hp1 others(1): Show HG02056.hp1 HG02258.hp1 HG02615.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 others(1): Show a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0008g0288	4	197	0.0203	191	c.-11 others(202): Show c.-1113_-1112insGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCA CACTTCACCCGCGCTCCCCTCACTCTTCACCCGCGCGCCCCTCACCCCTC ACCCGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGC GCGCCCCTCACCCCTCACCCGCGCTCCCCTCACACTTCACCCGCGCTCCC CTCACCC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		941		chr18	TogoVar
SLC9A3_chr5_465456_529449	495377	G G	GCTCCCCG others(184): Show GCTCCCCGCGCCATCGCCGACCCTCCCCATCGCCGACCCTCCCCACGCTC CACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCAT CGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCA CGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0015 a0002c0004t0015	a0002c0004t0015g0037 a0002c0004t0015g0037	1	32	0.0313	191	c.212 others(208): Show c.212-3307_212-3306insTGGAGCGTGGGGAGGGTCGGCGATGGCG CGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCGCGGGGAGTGGAGCGT GGGGAGGGTCGGCGATGGCGCGGGGAGTGGAGCGTGGGGAGGGTCGGCGA TGGCGCGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGGGAGGGTCGGCG ATGGCGCGGGGAG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	91957142	T T	TTATATAT others(184): Show TTATATATATAATATATAGTATTAATATATATAATATATATACTATATAG TATATATATTATATAATATATATACTATATATTATATATATAATATATAG TATATAATATATATAATATATATACTATATAGTATATATATAATATATAG TATATATAATATATATATAATATATATAATATATAGTATATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA19081.hp2 HG01074.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0002 a0001c0006t0004 a0001c0002t0002 a0001c0006t0004	a0001c0002t0002g0145 a0001c0006t0004g0041 a0001c0002t0002g0145 a0001c0006t0004g0041	2	58	0.0345	191	c.646 others(210): Show c.646+40688_646+40689insTATATAATATATAGTATTAATATATA TAATATATATACTATATAGTATATATATTATATAATATATATACTATATA TTATATATATAATATATAGTATATAATATATATAATATATATACTATATA GTATATATATAATATATAGTATATATAATATATATATAATATATATAATA TATAGTATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	91957142	T T	TTATATAT others(184): Show TTATATATATAATATATAGTATTAATATATATAATATATATACTATATAG TATATATATTATATAATATATATACTATATATTATATATATAATATATAG TATATAATATATATAATATATATACTATATATTATATATATAATATATAG TATATATAATATATATATAATATATATAATATATAGTATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(36): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00621.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01256.hp1 HG01257.hp2 HG01358.hp2 HG01517.hp2 HG01952.hp1 HG01978.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02300.hp2 HG02486.hp2 HG02602.hp1 HG02683.hp1 HG02895.hp1 HG03017.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03942.hp1 HG04184.hp1 NA18612.hp2 NA18906.hp1 NA18941.hp1 NA18965.hp1 NA18970.hp2 NA18979.hp2 NA18986.hp1 NA18991.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0016 a0001c0001t0018 a0001c0001t0024 a0001c0001t0054 a0001c0001t0060 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0015 a0001c0002t0020 a0001c0006t0004 a0002c0003t0001 a0002c0003t0002 a0002c0005t0009	a0001c0001t0001g0023 a0001c0001t0001g0045 a0001c0001t0001g0046 others(36): Show a0001c0001t0001g0023 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0055 a0001c0001t0001g0114 a0001c0001t0002g0052 a0001c0001t0002g0081 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0003g0056 a0001c0001t0003g0101 a0001c0001t0004g0086 a0001c0001t0005g0048 a0001c0001t0005g0060 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0008g0106 a0001c0001t0016g0118 a0001c0001t0018g0077 a0001c0001t0024g0025 a0001c0001t0054g0168 a0001c0001t0060g0177 a0001c0002t0001g0061 a0001c0002t0001g0091 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0079 a0001c0002t0002g0103 a0001c0002t0002g0149 a0001c0002t0003g0071 a0001c0002t0005g0044 a0001c0002t0005g0051 a0001c0002t0015g0178 a0001c0002t0020g0142 a0001c0006t0004g0113 a0002c0003t0001g0072 a0002c0003t0002g0100 a0002c0005t0009g0176	39	95	0.4105	191	c.646 others(210): Show c.646+40688_646+40689insTATATAATATATAGTATTAATATATA TAATATATATACTATATAGTATATATATTATATAATATATATACTATATA TTATATATATAATATATAGTATATAATATATATAATATATATACTATATA TTATATATATAATATATAGTATATATAATATATATATAATATATATAATA TATAGTATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	91957142	T T	TTATATAT others(184): Show TTATATATATAATATATAGTATTAATATATATAATATATATACTATATAG TATATATATTATATAATATATATACTATATGTTATATATATAATATATAG TATATAATATATATAATATATATACTATATATTATATATATAATATATAG TATATATAATATATATATAATATATATAATATATAGTATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01168.hp2 HG01517.hp1 others(1): Show HG00099.hp1 HG01168.hp2 HG01517.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0108 a0001c0001t0001g0122 a0001c0001t0001g0143 others(1): Show a0001c0001t0001g0108 a0001c0001t0001g0122 a0001c0001t0001g0143 a0001c0001t0003g0144	4	60	0.0667	191	c.646 others(210): Show c.646+40688_646+40689insTATATAATATATAGTATTAATATATA TAATATATATACTATATAGTATATATATTATATAATATATATACTATATG TTATATATATAATATATAGTATATAATATATATAATATATATACTATATA TTATATATATAATATATAGTATATATAATATATATATAATATATATAATA TATAGTATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD1_chr4_145476853_145564176	145541339	T T	TAGTATCA others(184): Show TAGTATCAAGAATTATCGGGTTCCTCTTGGTTGTGCTGATGCCATAGGTT GCCAATGAAATTTTTACCAGCTTCTTGGCAGAAATTCATTGACTTGGGCT CAGAGGAGGCTCTTTGTCTTTGTTCCTGGCTTGAGATAAAGCCGAGTCAG CCTTACAGCTGCAGAGAAGAGGCTGAATTAAAAGAAGCTGAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0256 a0001c0001t0008g0256	1	306	0.0033	191	c.659 others(208): Show c.659-1180_659-1179insTACCAGCTTCTTGGCAGAAATTCATTGA CTTGGGCTCAGAGGAGGCTCTTTGTCTTTGTTCCTGGCTTGAGATAAAGC CGAGTCAGCCTTACAGCTGCAGAGAAGAGGCTGAATTAAAAGAAGCTGAA AGTATCAAGAATTATCGGGTTCCTCTTGGTTGTGCTGATGCCATAGGTTG CCAATGAAATTTT	SMAD1	ENSG00000170365.10	transcript	ENST00000302085.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMYD3_chr1_245744347_246512279	246402367	T T	TAACAACG others(184): Show TAACAACGCCATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGCGATCTCGGCTCACCACAACCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0048 a0001c0002t0002g0048	1	113	0.0088	191	c.165 others(210): Show c.165-47274_165-47273insGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAGATGGCGTTGTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNX9_chr6_157818246_157950077	157849651	T T	TAGAAAGT others(184): Show TAGAAAGTAGAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	299	0.0033	191	c.13- others(208): Show c.13-17886_13-17885insATTAGCCGGGCGTGGTAGCGGGCGCCTG TAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAGAAAGTAGA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATA13_chr13_24155720_24312069	24189921	T T	TTATATAA others(184): Show TTATATAATTATATTACATAATATATATTATATAATTATATAATATATTA CGTAATATATTATATAATTATATAATATATTACGTAATATATTATATATA ATTATATAATATATTACGTAATATATTATATAATTATATAATATATTACG TAATATATTATATAATTATATAATATATTACGTAATATATTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0015 a0001c0005t0015	a0001c0005t0015g0104 a0001c0005t0015g0104	1	347	0.0029	191	c.-11 others(212): Show c.-112+29002_-112+29003insTACATAATATATATTATATAATTA TATAATATATTACGTAATATATTATATAATTATATAATATATTACGTAAT ATATTATATATAATTATATAATATATTACGTAATATATTATATAATTATA TAATATATTACGTAATATATTATATAATTATATAATATATTACGTAATAT ATTATATATAATTATAT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(184): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCC CTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCC CCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	18	0.0556	191	c.54 others(202): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(184): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCC CTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCC CCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG02602.hp2 NA18963.hp2 others(1): Show HG01358.hp1 HG02602.hp2 NA18963.hp2 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0045 a0001c0001t0001g0001 a0001c0001t0001g0045	4	21	0.1905	191	c.54 others(202): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(184): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCC CTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCC CCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19087.hp2 NA19007.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	2	19	0.1053	191	c.54 others(202): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(184): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0154 a0001c0006t0001g0154	1	6	0.1667	191	c.138 others(210): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC TTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(184): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGATGGGAGGGGAGGGGACGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGGAGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	6	0.1667	191	c.138 others(210): Show c.1384-5708_1384-5707insCTCCCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCGTCCCCTCCCCTCCCATC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC TTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCK3_chr4_166728384_167239494	167109065	T T	TATACTTA others(184): Show TATACTTATATAAAAATATATATAAATATATATTTATATAAAAATATATA TAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAA TATATATAAATATATATTTATATAAATATATATAAATATATATTTATATA AAAATATATATAAATATATATTTATATAAAAATATATATAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01071.hp2 HG01952.hp2 others(10): Show HG00558.hp2 HG01071.hp2 HG01952.hp2 HG01981.hp1 HG02040.hp2 HG02071.hp2 HG02602.hp1 HG02895.hp1 NA18948.hp1 NA18952.hp2 NA18954.hp2 NA18962.hp1 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0002c0003t0006	a0001c0001t0001g0032 a0001c0001t0001g0092 a0001c0001t0001g0123 others(10): Show a0001c0001t0001g0032 a0001c0001t0001g0092 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0003g0017 a0001c0002t0003g0035 a0002c0003t0006g0040	13	56	0.2321	191	c.190 others(210): Show c.190-46529_190-46528insTTTATATATATTTTTATATAAATATA TATTTATATATATTTTTATATAAATATATATTTATATATATTTATATAAA TATATATTTATATATATTTTTATATAAATATATATTTATATATATTTTTA TATAAATATATATTTATATATATTTTTATATAAATATATATTTATATATA TTTTTATATAAGTAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167109065	T T	TATACTTA others(184): Show TATACTTATATAAAAATATATATAAATATATATTTATATAAAAATATATA TAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAATA TATATAAATATATATTTATATAAAAATATATATAAATATATATTTATATA AAAATATATATAAATATATATTTATATAAAAATATATATAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02056.hp1 HG02976.hp1 HG01175.hp1 HG02056.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0087 a0001c0001t0002g0020 a0001c0001t0002g0052 a0001c0001t0001g0087 a0001c0001t0002g0020 a0001c0001t0002g0052	3	46	0.0652	191	c.190 others(210): Show c.190-46529_190-46528insTTTATATATATTTTTATATAAATATA TATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATATA AATATATATTTATATATATTTATATAAATATATATTTATATATATTTTTA TATAAATATATATTTATATATATTTTTATATAAATATATATTTATATATA TTTTTATATAAGTAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167109065	T T	TATACTTA others(184): Show TATACTTATATAAAAATATATATAAATATATATTTATATAAAAATATATA TAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAATA TATATAAATATATATTTATATAAAAATATATATAAATATATATTTATATA AAAATATATATAAATATATATTTATATATAAATATATATAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0098 a0001c0001t0008g0098	1	44	0.0227	191	c.190 others(210): Show c.190-46529_190-46528insTTTATATATATTTATATATAAATATA TATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATATA AATATATATTTATATATATTTATATAAATATATATTTATATATATTTTTA TATAAATATATATTTATATATATTTTTATATAAATATATATTTATATATA TTTTTATATAAGTAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167109065	T T	TATACTTA others(184): Show TATACTTATATAAAAATATATATAAATATATATTTATATAAAAATATATA TAAATATATATTTATATATAAATATATATAAATATATATTTATATAAAAA TATATATAAATATATATTTATATAAATATATATAAATATATATTTATATA AAAATATATATAAATATATATTTATATAAAAATATATATAAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	44	0.0227	191	c.190 others(210): Show c.190-46529_190-46528insTTTATATATATTTTTATATAAATATA TATTTATATATATTTTTATATAAATATATATTTATATATATTTATATAAA TATATATTTATATATATTTTTATATAAATATATATTTATATATATTTATA TATAAATATATATTTATATATATTTTTATATAAATATATATTTATATATA TTTTTATATAAGTAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167109065	T T	TATACTTA others(184): Show TATACTTATATAAAAATATATATAAATATATATTTATATATAAATATATA TAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAA TATATATAAATATATATTTATATAAATATATATAAATATATATTTATATA AAAATATATATAAATATATATTTATATAAAAATATATATAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	44	0.0227	191	c.190 others(210): Show c.190-46529_190-46528insTTTATATATATTTTTATATAAATATA TATTTATATATATTTTTATATAAATATATATTTATATATATTTATATAAA TATATATTTATATATATTTTTATATAAATATATATTTATATATATTTTTA TATAAATATATATTTATATATATTTATATATAAATATATATTTATATATA TTTTTATATAAGTAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167109065	T T	TATATATA others(184): Show TATATATATAAAAATATATATAAATATATATTTATATAAAAATATATATA AATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAATA TATATAAATATATATTTATATAAAAATATATATAAATATATATTTATATA AAAATATATATAAATATATATTTATATATAAATATATATAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0004 a0001c0004t0002g0004	1	44	0.0227	191	c.190 others(210): Show c.190-46529_190-46528insTTTATATATATTTATATATAAATATA TATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATATA AATATATATTTATATATATTTTTATATAAATATATATTTATATATATTTT TATATAAATATATATTTATATATATTTTTATATAAATATATATTTATATA TATTTTTATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167109065	T T	TATATTTA others(184): Show TATATTTATATAAAAATATATATAAATATATATTTATATAAAAATATATA TAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAA TATATATAAATATATATTTATATAAATATATATAAATATATATTTATATA AAAATATATATAAATATATATTTATATAAAAATATATATAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0007 a0001c0004t0003g0007	1	44	0.0227	191	c.190 others(210): Show c.190-46529_190-46528insTTTATATATATTTTTATATAAATATA TATTTATATATATTTTTATATAAATATATATTTATATATATTTATATAAA TATATATTTATATATATTTTTATATAAATATATATTTATATATATTTTTA TATAAATATATATTTATATATATTTTTATATAAATATATATTTATATATA TTTTTATATAAATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167109065	T T	TATATTTA others(184): Show TATATTTATATAAAAATATATATAAATATATATTTATATAAAAATATATA TGAATATATATTTATATATAAATATATATGAATATATATTTATATAAAAA TATATATGAATATATATTTATATAAATATATATGAATATATATTTATATA AAAATATATATGAATATATATTTATATAAAAATATATATGAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0071 a0001c0002t0002g0071	1	44	0.0227	191	c.190 others(210): Show c.190-46529_190-46528insTTCATATATATTTTTATATAAATATA TATTCATATATATTTTTATATAAATATATATTCATATATATTTATATAAA TATATATTCATATATATTTTTATATAAATATATATTCATATATATTTATA TATAAATATATATTCATATATATTTTTATATAAATATATATTTATATATA TTTTTATATAAATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167109065	T T	TATATTTA others(184): Show TATATTTATATAAAAATATATATAAATATATATTTATATATAAATATATA TAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAATA TATATAAATATATATTTATATAAAAATATATATAAATATATATTTATATA AAAATATATATAAATATATATTTATATAAAAATATATATAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0001 a0001c0004t0015g0001	1	44	0.0227	191	c.190 others(210): Show c.190-46529_190-46528insTTTATATATATTTTTATATAAATATA TATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATATA AATATATATTTATATATATTTATATAAATATATATTTATATATATTTTTA TATAAATATATATTTATATATATTTATATATAAATATATATTTATATATA TTTTTATATAAATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167109065	T T	TATATTTA others(184): Show TATATTTATATAAAAATATATATGAATATATATTTATATAAAAATATATA TGAATATATATTTATATATAAATATATATGAATATATATTTATATAAAAA TATATATGAATATATATTTATATAAATATATATGAATATATATTTATATA AAAATATATATGAATATATATTTATATAAAAATATATATGAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0070 a0001c0002t0002g0070	1	44	0.0227	191	c.190 others(210): Show c.190-46529_190-46528insTTCATATATATTTTTATATAAATATA TATTCATATATATTTTTATATAAATATATATTCATATATATTTATATAAA TATATATTCATATATATTTTTATATAAATATATATTCATATATATTTATA TATAAATATATATTCATATATATTTTTATATAAATATATATTCATATATA TTTTTATATAAATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
STOX2_chr4_183900307_184028526	183932303	G G	GTGTATAC others(184): Show GTGTATACATACATGTATATGTATGTATACATACAGTATATGTATGTATA CATACAGTATATGTATGTATACATACAGTATATGTATGTATACATACAGT ATATGTATGTATACATACAGTATATGTATGTATACATACAGTATATGTAT GTATACATACAGTATATGTATGTATACATACATGTATATGTA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0307 a0001c0001t0079g0307	1	244	0.0041	191	c.166 others(210): Show c.166+25359_166+25360insTGTATATGTATGTATACATACAGTAT ATGTATGTATACATACAGTATATGTATGTATACATACAGTATATGTATGT ATACATACAGTATATGTATGTATACATACAGTATATGTATGTATACATAC AGTATATGTATGTATACATACAGTATATGTATGTATACATACATGTATAT GTATGTATACATACA	STOX2	ENSG00000173320.12	transcript	ENST00000308497.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
SWAP70_chr11_9659077_9757993	9706078	C C	CTGGTGAT others(184): Show CTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATA CACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTA TACACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTG TATGCACTGGTGATCTGTATACACTGGTGATCTGTGTATACT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0207 a0001c0003t0003g0207	1	262	0.0038	191	c.241 others(208): Show c.241-7273_241-7272insATACACTGGTGATCTGTGTATACTTGGT GATCTGTATGCACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTG GTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACAC TGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATAC ACTGGTGATCTGT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9706127	A A	ACACTGGT others(184): Show ACACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGT ATACACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCT GTATGCACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGAT CTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG02132.hp1 others(8): Show HG00544.hp2 HG00558.hp2 HG02132.hp1 NA18945.hp2 NA18956.hp1 NA18961.hp1 NA18964.hp1 NA19000.hp2 NA19005.hp2 NA19056.hp2 NA19070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0018 a0001c0003t0003g0107 a0001c0003t0003g0112 others(8): Show a0001c0003t0003g0018 a0001c0003t0003g0107 a0001c0003t0003g0112 a0001c0003t0003g0115 a0001c0003t0003g0211 a0001c0003t0003g0218 a0001c0003t0003g0224 a0001c0003t0003g0228 a0001c0003t0003g0231 a0001c0003t0003g0232 a0001c0003t0003g0233	11	270	0.0407	191	c.241 others(208): Show c.241-7273_241-7272insATACACTGGTGATCTGTGTATACTTGGT GATCTGTATGCACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTG GTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATGCAC TGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATAC ACTGGTGATCTGT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9706165	T T	TTGGTGAT others(184): Show TTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATA CACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTA TACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTG TATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACAC	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18983.hp2 NA18961.hp2 NA18983.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0002 a0002c0004t0001 a0001c0002t0002 a0002c0004t0001	a0001c0002t0002g0140 a0002c0004t0001g0177 a0001c0002t0002g0140 a0002c0004t0001g0177	2	245	0.0082	191	c.241 others(208): Show c.241-7284_241-7094dupCTGGTGATCTGTGTATACTTGGTGATCT GTATACACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGAT CTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTG ATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGG TGATCTGTATACA	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9706165	T T	TTGGTGAT others(184): Show TTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTATA CACTGGTGATCTGTGTATACTTGGTGATCTGTATGCACTGGTGATCTGTA TACACTGGTGATCTGTGTACACTTGGTGATCTGTATGCACTGGTGATCTG TATACACTGGTGATCTGTGTATACTTGGTGATCTGTATGCAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01099.hp1 HG01258.hp2 others(2): Show HG00140.hp2 HG01099.hp1 HG01258.hp2 HG03239.hp1 HG03669.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0268 a0002c0001t0001g0269 a0002c0001t0001g0273 others(2): Show a0002c0001t0001g0268 a0002c0001t0001g0269 a0002c0001t0001g0273 a0002c0001t0001g0281 a0002c0001t0001g0283	5	248	0.0202	191	c.241 others(208): Show c.241-7290_241-7289insGTATACTTGGTGATCTGTATACACTGGT GATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATGCACTG GTGATCTGTATACACTGGTGATCTGTGTACACTTGGTGATCTGTATGCAC TGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATGC ACTGGTGATCTGT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9706252	T T	TTGGTGAT others(184): Show TTGGTGATCTGTATGCACTGGTGATCTGTATACACTGGTGATCTGTGTAT ACTTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTA TGCACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTG TATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0240 a0001c0003t0003g0240	1	165	0.0061	191	c.241 others(208): Show c.241-7201_241-7200insGCACTGGTGATCTGTATACACTGGTGAT CTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGT GATCTGTATGCACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTG GTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACAC TGGTGATCTGTAT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SYNPR_chr3_63273308_63621924	63476319	A A	AGGAAGGA others(184): Show AGGAAGGAAGGAGGGAAGGGAAGGAAGGCAGGAAGGGAAGGAAGGAAGGA GGGAAGGGAAGGGAAGGAAGGAAGGAAAGGAGGGAGAGAAGAAGGAAGGA AGGAAGGGAGGGAGGGAAGGAAGGGAAGGGAGGGAAGCAAGGGAAGGAAG GGAAGGAAGGAAGGAGGGAAGGGAAGGAAGGCAGGAGGGAAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01175.hp2 HG02004.hp2 others(7): Show HG00423.hp2 HG01175.hp2 HG02004.hp2 NA18522.hp1 NA18957.hp2 NA18966.hp2 NA18983.hp1 NA19007.hp2 NA19057.hp2 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0002c0002t0001	a0001c0001t0001g0012 a0001c0001t0001g0037 a0001c0001t0001g0048 others(7): Show a0001c0001t0001g0012 a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0202 a0001c0001t0002g0130 a0001c0001t0002g0190 a0001c0001t0002g0211 a0001c0001t0003g0100 a0001c0001t0007g0131 a0002c0002t0001g0137	10	200	0.0500	191	c.85- others(206): Show c.85-4512_85-4511insGAAGGAAGGAGGGAAGGGAAGGAAGGCAGG AAGGGAAGGAAGGAAGGAGGGAAGGGAAGGGAAGGAAGGAAGGAAAGGAG GGAGAGAAGAAGGAAGGAAGGAAGGGAGGGAGGGAAGGAAGGGAAGGGAG GGAAGCAAGGGAAGGAAGGGAAGGAAGGAAGGAGGGAAGGGAAGGAAGGC AGGAGGGAAGG	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TAFA5_chr22_48484553_48756932	48736491	C C	CCCCCCAG others(184): Show CCCCCCAGGAGGAATGAGAATCGCACTCCTAGGGTCCCTCCCCCCAGGAG GAATGAGAATCGCACTCCTAGGGTCCCTCCCCCCAGAAGGAATGAGAATC GCACTCCTAGGGTCCATCCCCCCAGGAGGAATGAGAATCGCACTCCTAGG GTCCTCCCCCAGGAGGAATGAGAATCGCACTCCTAGGGTCCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0042	1	235	0.0043	191	c.391 others(210): Show c.391-13329_391-13328insTCGCACTCCTAGGGTCCCTCCCCCCA GGAGGAATGAGAATCGCACTCCTAGGGTCCCTCCCCCCAGAAGGAATGAG AATCGCACTCCTAGGGTCCATCCCCCCAGGAGGAATGAGAATCGCACTCC TAGGGTCCTCCCCCAGGAGGAATGAGAATCGCACTCCTAGGGTCCTCCCC CAGGAGGAATGAGAA	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48736510	A A	ATCGCACT others(184): Show ATCGCACTCCTAGGGTCCCTCCCCCCAGGAGGAATGAGAATCGCACTCCT AGGGTCCCTCCCCCCAGAAGGAATGAGAATCGCACTCCTAGGGTCCATCC CCCCAGGAGGAATGAGAATCGCACTCCTAGGGTCCTCCCCCAGGAGGAAT GAGAATCGCACTCCTAGGGTCCTCCCCCAGGAGGAATGAGAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0192 a0001c0001t0012g0192	1	234	0.0043	191	c.391 others(210): Show c.391-13329_391-13328insTCGCACTCCTAGGGTCCCTCCCCCCA GGAGGAATGAGAATCGCACTCCTAGGGTCCCTCCCCCCAGAAGGAATGAG AATCGCACTCCTAGGGTCCATCCCCCCAGGAGGAATGAGAATCGCACTCC TAGGGTCCTCCCCCAGGAGGAATGAGAATCGCACTCCTAGGGTCCTCCCC CAGGAGGAATGAGAG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3			chr22	TogoVar
TAFA5_chr22_48484553_48756932	48736510	A A	ATCGCACT others(184): Show ATCGCACTCCTAGGGTCCCTCCCCCCAGGAGGAATGAGAATCGCACTCCT AGGGTCCCTCCCCCCAGAAGGAATGAGAATCGCACTCCTAGGGTCCCTCC CCCCAGGAGGAATGAGAATCGCACTCCTAGGGTCCTCCCCCAGGAGGAAT GAGAATCGCACTCCTAGGGTCCTCCCCCAGGAGGAATGAGAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	234	0.0043	191	c.391 others(210): Show c.391-13329_391-13328insTCGCACTCCTAGGGTCCCTCCCCCCA GGAGGAATGAGAATCGCACTCCTAGGGTCCCTCCCCCCAGAAGGAATGAG AATCGCACTCCTAGGGTCCCTCCCCCCAGGAGGAATGAGAATCGCACTCC TAGGGTCCTCCCCCAGGAGGAATGAGAATCGCACTCCTAGGGTCCTCCCC CAGGAGGAATGAGAG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3			chr22	TogoVar
TANC2_chr17_62961235_63432703	62996974	T T	TGGCTAAT others(184): Show TGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0003 a0001c0001t0006g0003	1	111	0.0090	191	c.-23 others(210): Show c.-23-12543_-23-12542insTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTA ATTTTTTGTATTTTT	TANC2	ENSG00000170921.16	transcript	ENST00000689528.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
TARBP1_chr1_234386313_234484179	234397780	C C	CGGGGGAA others(184): Show CGGGGGAAGAGGGGGAGAAGGGGAGGGGGAGGAGGTGGGGGAAGAGGGGG AGGGGGGAGGGGGAAGGGGGAGGAGGGGGAGGGGGAAGAGGGGAAGAAGG GGGAGGGGAAGGAGGGGAAAGAGGGTGAAGAGGGAGGGGAGGGGAGGAGG GAGGGGAGGGGGTAGAGGGAGGGGACGGGAGGAGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0001 a0010c0019t0001	a0010c0019t0001g0201 a0010c0019t0001g0201	1	265	0.0038	191	c.424 others(208): Show c.4243+601_4243+602insTCCCCTCCCTCCTCCCGTCCCCTCCCTC TACCCCCTCCCCTCCCTCCTCCCCTCCCCTCCCTCTTCACCCTCTTTCCC CTCCTTCCCCTCCCCCTTCTTCCCCTCTTCCCCCTCCCCCTCCTCCCCCT TCCCCCTCCCCCCTCCCCCTCTTCCCCCACCTCCTCCCCCTCCCCTTCTC CCCCTCTTCCCCC	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TARBP1_chr1_234386313_234484179	234397802	G G	GAGGGGGA others(184): Show GAGGGGGAGGAGGTGGGGGAAGAGGGGGAGGGGGGAGGGGGAAGGGGGAG GAGGGGGAGGGGGAAGAGGGGAAGAAGGGGGAGGGGAAGGAGGGGGAAAG AGGGTGAAGAGGAGGGAGGGGAGGAGGGAGGGGAGGGGGTAGAGGGAGGG GACGGGAGGAGGGAGGGGAGGGGAAGAGGGGGAGGAGGTGGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0002 a0006c0021t0002	a0006c0021t0002g0262 a0006c0021t0002g0262	1	148	0.0068	191	c.424 others(208): Show c.4243+579_4243+580insTCCACCTCCTCCCCCTCTTCCCCTCCCC TCCCTCCTCCCGTCCCCTCCCTCTACCCCCTCCCCTCCCTCCTCCCCTCC CTCCTCTTCACCCTCTTTCCCCCTCCTTCCCCTCCCCCTTCTTCCCCTCT TCCCCCTCCCCCTCCTCCCCCTTCCCCCTCCCCCCTCCCCCTCTTCCCCC ACCTCCTCCCCCT	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TBATA_chr10_70766238_70790377	70767660	A A	AAGAAAGA others(184): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	163	0.0061	191	c.37 others(202): Show c.3715_*3716insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCT	TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding		3577		chr10	TogoVar
TBC1D16_chr17_79927343_80040872	79929984	C C	CCCTCCCC others(184): Show CCCTCCCCTCTCCTCCCCTCCTCTCCCCTCTCCTCCCCTCCCCTCTCCTC TCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCTCCTCTCCTCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTC CTCTCCCCTCCTCTCCCCTCTCCTCCCCTCCTCTCCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0175 a0001c0002t0003g0175	1	110	0.0091	191	c.10 others(204): Show c.10874_*10875insAGAGGGGGAGAGGAGGGGAGGAGAGGGGAGAG GAGGGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGA GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGG GAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGGGAGAGGAGGGGAGGA GAGGGGAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2358		chr17	TogoVar
TBC1D16_chr17_79927343_80040872	79929984	C C	CCCTCCCC others(184): Show CCCTCCCCTCTCCTCCCCTCCTCTCCCCTCTCCTCCCCTCCCCTCTCCTC TCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCTCCCCTCTCCTCTCCTCCCCTCCCTCTCCTCTCCTCCCCTCCC TCCTCTCCCTCCTCTCCCCTCTCCTCCCCTCCTCTCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0049 a0001c0001t0024g0049	1	110	0.0091	191	c.10 others(204): Show c.10874_*10875insAGAGGGGAGAGGAGGGGAGGAGAGGGGAGAGG AGGGAGAGGAGGGAGGGGAGGAGAGGAGAGGGAGGGGAGGAGAGGAGAGG GGAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGG GAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGGGAGAGGAGGGGAGGA GAGGGGAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2358		chr17	TogoVar
TERT_chr5_1248167_1300068	1275790	G G	GAAAACCA others(184): Show GAAAACCAACTCCACAGATCCCCACCTACCCCACACATGAAAACCAATCC CACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCA CCTACCCCACACATGAAAACCAATCCCACAGATCTCCACCTACCCTACAC ATGAAAACCAACTCCACAGATCCCCACCTACCCCCACACATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	390	0.0026	191	c.228 others(210): Show c.2286+2660_2286+2850dupTATGTGTGGGGGTAGGTGGGGATCTG TGGAGTTGGTTTTCATGTGTAGGGTAGGTGGAGATCTGTGGGATTGGTTT TCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGG TAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATC TGTGGAGTTGGTTTT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THOC1_chr18_209520_273047	219172	C C	CAAAATAA others(184): Show CAAAATAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAA AGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTAAGCGGTACAAAA TAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAAAGTGG TGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	22	0.0455	191	c.137 others(208): Show c.1371-204_1371-203insTGTACCGCTCAGGGAACACATGCCCACA ATCTTGTCCTGCCACCACTTTATGAGTATTTATTATTAAGAGTATATGCC ATCCTCACTGGTTATTTTGTACCGCTTAGGGAACACATGCCCACAATCTT GTCCTGCCACCACTTTATGAGTATTTATTATTAAGAGTATATGCCATCCT CACTGGTTATTTT	THOC1	ENSG00000079134.13	transcript	ENST00000261600.11	protein_coding	17/20			chr18	TogoVar
THOC1_chr18_209520_273047	219172	C C	CAAAATAA others(184): Show CAAAATAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAA AGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAAA TAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAAAGTGG TGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(319): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0002 a0001c0006t0001 a0001c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(256): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0306 a0001c0001t0002g0006 a0001c0001t0002g0018 a0001c0001t0002g0045 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0002t0001g0007 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0198 a0001c0003t0001g0002 a0001c0003t0001g0262 a0001c0003t0001g0263 a0001c0003t0001g0264 a0001c0003t0001g0265 a0001c0003t0001g0266 a0001c0003t0001g0268 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0271 a0001c0003t0001g0272 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0295 a0001c0003t0001g0296 a0001c0004t0001g0255 a0001c0005t0002g0048 a0001c0006t0001g0191 a0001c0007t0001g0114	322	343	0.9388	191	c.137 others(208): Show c.1371-394_1371-204dupTGTACCGCTCAGGGAACACATGCCCACA ATCTTGTCCTGCCACCACTTTATGAGTATTTATTATTAAGAGTATATGCC ATCCTCACTGGTTATTTTGTACCGCTCAGGGAACACATGCCCACAATCTT GTCCTGCCACCACTTTATGAGTATTTATTATTAAGAGTATATGCCATCCT CACTGGTTATTTT	THOC1	ENSG00000079134.13	transcript	ENST00000261600.11	protein_coding	17/20			chr18	TogoVar
THOC1_chr18_209520_273047	219172	C C	CAAAATAA others(184): Show CAAAATAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAA AGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTGCAAAA TAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAAAGTGG TGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	22	0.0455	191	c.137 others(208): Show c.1371-204_1371-203insTGTACCGCTCAGGGAACACATGCCCACA ATCTTGTCCTGCCACCACTTTATGAGTATTTATTATTAAGAGTATATGCC ATCCTCACTGGTTATTTTGCACCGCTCAGGGAACACATGCCCACAATCTT GTCCTGCCACCACTTTATGAGTATTTATTATTAAGAGTATATGCCATCCT CACTGGTTATTTT	THOC1	ENSG00000079134.13	transcript	ENST00000261600.11	protein_coding	17/20			chr18	TogoVar
THOC1_chr18_209520_273047	219242	G G	GTGGGCAT others(184): Show GTGGGCATGTGTTCCCTGAGCGGTACAAAATAACCAGTGAGGACGGCATA TACTCTTAATAATAAATACTCATAAAGTGGTGGCAGGACAAGATTGTGGG CATGTGTTCCCTGAGCGGTACAAAAATAACCAGTGAGGATGGCATATACT CTTAATAATAAATACTCATAAAGTGGTGGCAGGACAAGATTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02717.hp2 others(4): Show HG02109.hp2 HG02280.hp2 HG02717.hp2 HG02818.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0069 a0001c0001t0001g0194 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0069 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197	7	373	0.0188	191	c.137 others(208): Show c.1371-274_1371-273insGAATCTTGTCCTGCCACCACTTTATGAG TATTTATTATTAAGAGTATATGCCATCCTCACTGGTTATTTTTGTACCGC TCAGGGAACACATGCCCACAATCTTGTCCTGCCACCACTTTATGAGTATT TATTATTAAGAGTATATGCCGTCCTCACTGGTTATTTTGTACCGCTCAGG GAACACATGCCCA	THOC1	ENSG00000079134.13	transcript	ENST00000261600.11	protein_coding	17/20			chr18	TogoVar

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