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
SLC9A3_chr5_465456_529449	507670	A A	ACAGACGC others(292): Show ACAGACGCCCGAATCCTCACCCTGCAGACGCCCGAATCCCCACCCCGCAG ACGCCCGAATCCCCACCCCACAGACGCCCGAATCTCCACCCCACAGACGC CCGAATCCCCACCCCACAGACGCCCGAATCCCCACCCCGCAGACGCCCGA ATCCTCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCC TCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCAC CCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG01361.hp1 others(14): Show HG00099.hp2 HG00558.hp2 HG01361.hp1 HG01361.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG03688.hp1 NA18747.hp2 NA18939.hp2 NA18944.hp1 NA18954.hp1 NA18973.hp2 NA18983.hp1 NA19004.hp2 NA19085.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 others(2): Show a0001c0001 a0001c0009 a0002c0002 a0002c0004 a0002c0011	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0023 a0001c0009t0009 a0002c0002t0002 a0002c0004t0015 a0002c0011t0002	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0072 others(14): Show a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0005g0185 a0001c0001t0007g0065 a0001c0001t0023g0074 a0001c0009t0009g0081 a0002c0002t0002g0023 a0002c0002t0002g0049 a0002c0002t0002g0058 a0002c0002t0002g0099 a0002c0004t0015g0133 a0002c0011t0002g0011 a0002c0011t0002g0101	17	128	0.1328	299	c.212 others(318): Show c.212-15600_212-15599insCGGGGTGGGGATTCGGGCGTCTGCGG GGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTG GGGATTCGGGCGTCTGCGGGGTGAGGATTCGGGCGTCTGCGGGGTGGGGA TTCGGGCGTCTGCGGGGTGAGGATTCGGGCGTCTGCGGGGTGGGGATTCG GGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGGAGATTCGGGCG TCTGTGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTG CAGGGTGAGGATTCGGGCGTCTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	507785	A A	ACAGACGC others(292): Show ACAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAG ACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGC CCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGA ATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCC CCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCAC CCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	177	0.0056	299	c.212 others(318): Show c.212-15715_212-15714insCGGGGTGGGGATTCGGGCGTCTGCGG GGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTG GGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGA TTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCG GGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCG TCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTG CGGGGTGGGGATTCGGGCGTCTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SMOC2_chr6_168436184_168672992	168595194	C C	CTGGCATC others(292): Show CTGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTAAGGCCTC ACAAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGG CCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTAAG GCCTCATGGGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCATTCCTGA GGCCTCATGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGG CCTCACAAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01069.hp1 HG01256.hp2 others(23): Show HG00609.hp2 HG01069.hp1 HG01256.hp2 HG01361.hp1 HG01978.hp1 HG02083.hp1 HG02135.hp2 HG02735.hp1 HG03654.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18960.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA19012.hp1 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19080.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0002t0002 a0001c0002t0007	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0089 others(23): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0003g0085 a0001c0001t0003g0090 a0001c0001t0003g0109 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0135 a0001c0001t0011g0119 a0001c0002t0002g0008 a0001c0002t0002g0012 a0001c0002t0002g0060 a0001c0002t0007g0016	26	135	0.1926	299	c.638 others(316): Show c.638-3624_638-3623insTGGCATCTTTCTAGAGGATCTCCGAGCT CCTCCTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGAGGATCTCCG AGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCC GAGCTCCTCCTCCTTCCTAAGGCCTCATGGGCATCTTTCTAGAGGATCGC GGAGCTCCTCCTCATTCCTGAGGCCTCATGGGCATCTTTCTAGAGGATGG CCGAGCTCCTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGAGGATC TCCGAGCTCCTCCTCCTTCCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SNRNP70_chr19_49080451_49113604	49092919	T T	TTTGTTTT others(292): Show TTTGTTTTGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTC ACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGC CTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA19000.hp1 HG01943.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0176 a0001c0001t0002g0223 a0001c0001t0001g0176 a0001c0001t0002g0223	2	317	0.0063	299	c.265 others(316): Show c.265+2412_265+2413insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGC GGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCTTGTTTTGTTCTT	SNRNP70	ENSG00000104852.15	transcript	ENST00000598441.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
SNTG2_chr2_945849_1372613	1221694	T T	TCTCTAGC others(292): Show TCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTC TCTCTGTCGCTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCTG CCCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCTG TCTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTCTCTGTCTCTGCCTC TCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTG CCTCTCTCTGTCTCTGTCTGTGTCTCTCTCTGTCTCTGCCTATCTCTGTC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03486.hp1 HG02965.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0141 a0001c0002t0001g0069 a0001c0002t0001g0141	2	115	0.0174	299	c.719 others(318): Show c.719+12464_719+12465insCTCTAGCTCTGCCTCTGTTAGTCCCT CTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGTCT CTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCT CTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGCCTCTCTCTGT CTCTGTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTCTGTCTCTCTCT GTCTCTGTCTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTGTGTCTCT CTCTGTCTCTGCCTATCTCTGTC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190088	T T	TAATGATA others(292): Show TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATTATATAAC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0240 a0001c0006t0010g0240	1	351	0.0028	299	c.-11 others(320): Show c.-112+29157_-112+29158insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATTATATAACA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
STOML3_chr13_38960925_38995831	38988474	A A	ATATATTA others(292): Show ATATATTATATTTTATATCATATATTTTATATATAATATATTATATTTTA TATCATATATTTTATATATAATATATTATATTTTATATCATATATTTTAT ATATAATATATTATATTTTATATCATATATTTTATATATAATATATTATA TTTTATATCATATATTTTATATATAATATATTATATTTTATATCATATAT TTTATATATAATATATTATATTTTATATCATATATTTTATATATAATATA TTATATTTTATATCATATATTTTATATCATATATTTTATATATAATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0316 a0001c0001t0002g0316	1	324	0.0031	299	c.52+ others(314): Show c.52+2195_52+2196insATATATTATATATAAAATATATGATATAAA ATATATGATATAAAATATAATATATTATATATAAAATATATGATATAAAA TATAATATATTATATATAAAATATATGATATAAAATATAATATATTATAT ATAAAATATATGATATAAAATATAATATATTATATATAAAATATATGATA TAAAATATAATATATTATATATAAAATATATGATATAAAATATAATATAT TATATATAAAATATATGATATAAAATATAATATATTATATATAAAATATA TGATATAAAATATAATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
SUFU_chr10_102498972_102638535	102637258	A A	ATATATAT others(292): Show ATATATATATAATATATATATTATATATTATATAACATATATTATATATA ATATATATATTATATATTATATAACTATATATTATATATAATATATATAT TATATATTATATAACTATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0081 a0001c0001t0005g0081	1	244	0.0041	299	c.71 others(310): Show c.7103_*7104insTATATATATAATATATATATTATATATTATATAA CATATATTATATATAATATATATATTATATATTATATAACTATATATTAT ATATAATATATATATTATATATTATATAACTATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3724		chr10	TogoVar
SUZ12_chr17_31932007_32006038	31957709	C C	CCAGTTTT others(292): Show CCAGTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCCGGACTGCAGTGGCGCG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACAGCGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAACCAAGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	273	0.0037	299	c.456 others(316): Show c.456-8422_456-8421insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCCGGACTGCAGTG GCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACAGCGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAAC CAAGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTCAGTTTTTGTATTTTT	SUZ12	ENSG00000178691.11	transcript	ENST00000322652.10	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TATATACA others(292): Show TATATACACATGTGTACATATGTGTATATATACATATATATACACATATA TATGTATATATACACATATGTGAATATGTATATATGTGTTATATATACAC ATATGTGTATATGTATATATACATATATACACATATGTGTATATATACAT ATATACATATACACATATGTGTATATATAACACATATATACACATATGTG TATATATAACACATATATACACATATGTGTATATATAACACATATATACA CATATGTGTATATATACATATATACATATACACATATGTGTATATATAAC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	30	0.0333	299	c.158 others(318): Show c.1582-2860_1582-2859insCACATGTGTACATATGTGTATATATA CATATATATACACATATATATGTATATATACACATATGTGAATATGTATA TATGTGTTATATATACACATATGTGTATATGTATATATACATATATACAC ATATGTGTATATATACATATATACATATACACATATGTGTATATATAACA CATATATACACATATGTGTATATATAACACATATATACACATATGTGTAT ATATAACACATATATACACATATGTGTATATATACATATATACATATACA CATATGTGTATATATAACATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TBC1D32_chr6_121074494_121339480	121160497	C C	CAAGAAGG others(292): Show CAAGAAGGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAA CTAAATTGAATATTGGATTTACATTTTATTGTATCTTAAAATGCACATAG CAAAACCCACTGATTTCAATTTAATTAACATAGAAACCAAGATATGCTTT GTAAATTTTACAAGTAAAGCTGAATCCAGAGAAAAAACAATTTTTATGAA CTTACTTTAAATGTCAGTTAGTAATTAAGAAAGAGCACCATAGAAAAGTC AAGTTACTACAATTTTCTATTAGGTATACTTTACAATCCTTTATCTTACT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01361.hp2 NA18962.hp1 HG00735.hp2 HG01361.hp2 NA18962.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0011 a0003c0004t0003 a0003c0004t0011	a0003c0004t0003g0028 a0003c0004t0003g0041 a0003c0004t0011g0035 a0003c0004t0003g0028 a0003c0004t0003g0041 a0003c0004t0011g0035	3	249	0.0120	299	c.268 others(316): Show c.2680-395_2680-394insAGTAAGATAAAGGATTGTAAAGTATACC TAATAGAAAATTGTAGTAACTTGACTTTTCTATGGTGCTCTTTCTTAATT ACTAACTGACATTTAAAGTAAGTTCATAAAAATTGTTTTTTCTCTGGATT CAGCTTTACTTGTAAAATTTACAAAGCATATCTTGGTTTCTATGTTAATT AAATTGAAATCAGTGGGTTTTGCTATGTGCATTTTAAGATACAATAAAAT GTAAATCCAATATTCAATTTAGTTTAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAGAACCTTCTT	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	23/31			chr6	TogoVar
TBCE_chr1_235362427_235457443	235412163	T T	TCCCCCTC others(292): Show TCCCCCTCCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCCTCCC CCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCC CCCCTCTCCCTTCCCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCCTCCTC TCCCTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCGTCCCCTCCTCTCCCC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	101	0.0099	299	c.186 others(316): Show c.186-2270_186-2269insCCCCCTCCCCTCCCCTCCCCATCCCCTC CCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCCCCTCCCTTCCCC CTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCTCTCCC TTCCCCCCTCCCCCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCTCC CCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCTCCCCCCCCTC CCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCTTCCCCCCTC CCCCCGTCCCCTCCTCTCCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16			chr1	TogoVar
TBCE_chr1_235362427_235457443	235412163	T T	TCCCCCTC others(292): Show TCCCCCTCCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCC CCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTC CCTTCCCCCCCCTCTCCCTTCCCCCCTCCCCCCGTCCCCCTCCTCTCCCC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	101	0.0099	299	c.186 others(316): Show c.186-2270_186-2269insCCCCCTCCCCTCCCCTCCCCATCCCCTC CCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCCCCTCCCTTCCCC CTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCC CCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCTCCCCCCCTCCC CTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCCTCTCCCTTCCCCCCTCC CCCCGTCCCCCTCCTCTCCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16			chr1	TogoVar
TCF3_chr19_1604292_1657615	1628564	G G	GGGGTGAG others(292): Show GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGG GGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACG GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGG GGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACG GGGTAAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGG GACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAACTCAC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0325 a0001c0002t0005g0325	1	334	0.0030	299	c.299 others(316): Show c.299-1139_299-1138insGTGAGTTCTGCTGTCCCCTTCCCGCCTC ATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTG CTGTCCCCTTCCCGCCTTACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGC TGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGC TGTCCCCTTCCCGCCTCACCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1272985	C C	CGCCATCC others(292): Show CGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCAC CACACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCACGA CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACATCAGACCCCACAACCGCCATCCACAGTCACATCAGACCCCCACAAC CGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTC ACCACACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCCA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	82	0.0122	299	c.228 others(316): Show c.2287-706_2287-705insTGGGGGTCTGATGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGACTGTGGAT GGCGGTTGTGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TH_chr11_2158929_2176815	2161578	A A	AGACCCCT others(292): Show AGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCGGGACCC CTGTCCCCAGACCCCTGTCCCCACATCCCTGTCCCCACACCCCTGTCCCC ACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCC TGTCCCCAGACCCCTGTCCCCACATCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCAGGACCCCTGTCCCCACATCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0063 a0001c0011t0001g0063	1	206	0.0049	299	c.26 others(310): Show c.2654_*2655insCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGATGTGGGGACAGGGGT CCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGATGTGGGGA CAGGGGTCTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGT GTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGATGTGGGGAC AGGGGTCTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTC CTGGGGACAGGGGTC	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2350		chr11	TogoVar
TMPRSS2_chr21_41459305_41513158	41474830	A A	AGGGAGTG others(292): Show AGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGGTGAGGGGGT GAAGGCGTGAGTGAGGAGGTGAGGGGATGAGTGAGGGGGTGAGGGGGTGA GGGGTGAGTGAGGGGGTGAGGGGGTGAGGGGATGAGTGAGGGGGTGAGGG GGTGAGGGGTGAGTGAGGGGGCGAGGGGGTGAGTGAGGGGGCGAGGGGGT GAGTGAGGAGGTGAGCGGGTGAGGGAGGAGGTGAGGGGGTGAGTGAGGGG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0120 a0002c0005t0001g0120	1	241	0.0041	299	c.728 others(316): Show c.728-1335_728-1334insCCCCTCACTCACCCCCTCACCTCCTCCC TCACCCGCTCACCTCCTCACTCACCCCCTCGCCCCCTCACTCACCCCCTC GCCCCCTCACTCACCCCTCACCCCCTCACCCCCTCACTCATCCCCTCACC CCCTCACCCCCTCACTCACCCCTCACCCCCTCACCCCCTCACTCATCCCC TCACCTCCTCACTCACGCCTTCACCCCCTCACCCCCCTCACTCACCCCCT CACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCA CCCACCCCCTCACTCACTCCC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TNNT1_chr19_55127698_55154206	55134768	A A	AGGAGAAG others(292): Show AGGAGAAGAGGGGAGGGGAGAGGAGAAGAGGGGAGGGGAGAGGAGAAGAG GGGAGGGGAGAGGAGGGAAGAAGAAGGGAGGGGAGGGGAGGGGAGAAGAG GGGAGGAGAGCGGAGAAGAGGGGAGGAGAGGGGAGGGCAGAAGACGGGAG GGGAGAAGAGGGGAGGAGAGGGGATGGGAAAATAGGGGAGGGGAGGGGAG GAGAGGGGAGGAGAGGGGAGGAGAGAAGAGGGGAGGGGAGGGGAGGAAAG GGGAGGGGAGGAGAGAAGAGGGGAGGGGAGGGAGGAAAGGGGAGGAAAGG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	214	0.0047	299	c.612 others(314): Show c.612-565_612-564insCCTTTCCTCCCCTTTCCTCCCTCCCCTCCC CTCTTCTCTCCTCCCCTCCCCTTTCCTCCCCTCCCCTCCCCTCTTCTCTC CTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCTCCCCTATTTTCCCATCCC CTCTCCTCCCCTCTTCTCCCCTCCCGTCTTCTGCCCTCCCCTCTCCTCCC CTCTTCTCCGCTCTCCTCCCCTCTTCTCCCCTCCCCTCCCCTCCCTTCTT CTTCCCTCCTCTCCCCTCCCCTCTTCTCCTCTCCCCTCCCCTCTTCTCCT CTCCCCTCCCCTCTTCTCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TNPO3_chr7_128949185_129060111	129059138	T T	TATTTTTA others(292): Show TATTTTTAAAAGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCT CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0181 a0001c0003t0002g0181	1	333	0.0030	299	c.-43 others(310): Show c.-4369_-4368insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGC CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCT GGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA AGAACTTTTAAAAAT	TNPO3	ENSG00000064419.14	transcript	ENST00000265388.10	protein_coding		4028		chr7	TogoVar
TPPP_chr5_654862_698352	682358	T T	TACTAGGG others(292): Show TACTAGGGCCTGGGGTCTGCCCCTTGGGCCTGGAGCCTGTTACTAGGACC TGGGGTCTGTCACTACAGCCAGGGGTCTGCCCCTTGAGCCTGGAGCCTGT AACTACGGCCTGGGGTCTGCCCCTTGGGCCTGGAGCCTGTTACTAGGACC TGGGGTCTGTCACTACAGCCAGGGGTCTGCCCCTTGAGCCTGGAGCCTGT AACTACGGCCTGGGGTCTGCCCCTTGGGCCTGGAGCCTGTTACTAGGACC TGGGGTCTGTCACTACAGCCAGGGGTCTGCCCTTGAGCCTGGAGCCTGTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(211): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03017.hp1 HG03225.hp2 HG03453.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0001c0012 a0002c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(52): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0037 a0001c0001t0040 a0001c0001t0043 a0001c0001t0048 a0001c0001t0049 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0080 a0001c0001t0082 a0001c0001t0090 a0001c0002t0015 a0001c0002t0062 a0001c0003t0005 a0001c0003t0018 a0001c0003t0019 a0001c0003t0027 a0001c0003t0038 a0001c0003t0039 a0001c0004t0001 a0001c0004t0002 a0001c0004t0011 a0001c0004t0029 a0001c0004t0036 a0001c0005t0025 a0001c0010t0002 a0001c0012t0002 a0002c0007t0007 a0002c0007t0008 a0002c0007t0079	a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0017 others(185): Show a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0099 a0001c0001t0002g0117 a0001c0001t0002g0151 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0205 a0001c0001t0002g0214 a0001c0001t0002g0237 a0001c0001t0002g0251 a0001c0001t0002g0256 a0001c0001t0002g0267 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0310 a0001c0001t0002g0314 a0001c0001t0002g0321 a0001c0001t0002g0331 a0001c0001t0002g0345 a0001c0001t0003g0002 a0001c0001t0003g0019 a0001c0001t0003g0032 a0001c0001t0003g0077 a0001c0001t0003g0100 a0001c0001t0003g0121 a0001c0001t0003g0133 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0203 a0001c0001t0003g0208 a0001c0001t0003g0212 a0001c0001t0003g0217 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0241 a0001c0001t0003g0245 a0001c0001t0003g0247 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0289 a0001c0001t0003g0315 a0001c0001t0003g0317 a0001c0001t0003g0359 a0001c0001t0003g0362 a0001c0001t0004g0073 a0001c0001t0004g0252 a0001c0001t0004g0255 a0001c0001t0004g0347 a0001c0001t0006g0138 a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0161 a0001c0001t0006g0166 a0001c0001t0006g0167 a0001c0001t0006g0168 a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0001t0006g0236 a0001c0001t0006g0316 a0001c0001t0006g0330 a0001c0001t0010g0072 a0001c0001t0010g0179 a0001c0001t0010g0201 a0001c0001t0010g0209 a0001c0001t0010g0210 a0001c0001t0010g0211 a0001c0001t0010g0235 a0001c0001t0013g0140 a0001c0001t0013g0171 a0001c0001t0013g0172 a0001c0001t0013g0197 a0001c0001t0013g0280 a0001c0001t0014g0153 a0001c0001t0014g0272 a0001c0001t0014g0286 a0001c0001t0014g0295 a0001c0001t0014g0307 a0001c0001t0016g0011 a0001c0001t0016g0069 a0001c0001t0016g0071 a0001c0001t0022g0240 a0001c0001t0022g0360 a0001c0001t0023g0194 a0001c0001t0023g0229 a0001c0001t0025g0243 a0001c0001t0025g0244 a0001c0001t0026g0022 a0001c0001t0026g0242 a0001c0001t0028g0010 a0001c0001t0032g0341 a0001c0001t0033g0308 a0001c0001t0033g0309 a0001c0001t0035g0025 a0001c0001t0037g0045 a0001c0001t0040g0290 a0001c0001t0043g0231 a0001c0001t0048g0318 a0001c0001t0049g0067 a0001c0001t0052g0313 a0001c0001t0053g0300 a0001c0001t0054g0261 a0001c0001t0055g0262 a0001c0001t0067g0254 a0001c0001t0068g0276 a0001c0001t0069g0200 a0001c0001t0070g0213 a0001c0001t0072g0227 a0001c0001t0073g0221 a0001c0001t0074g0319 a0001c0001t0075g0120 a0001c0001t0080g0224 a0001c0001t0082g0123 a0001c0001t0090g0367 a0001c0002t0015g0329 a0001c0002t0062g0238 a0001c0003t0005g0004 a0001c0003t0005g0009 a0001c0003t0005g0034 a0001c0003t0005g0036 a0001c0003t0005g0037 a0001c0003t0005g0038 a0001c0003t0005g0039 a0001c0003t0005g0040 a0001c0003t0005g0041 a0001c0003t0005g0042 a0001c0003t0005g0043 a0001c0003t0005g0044 a0001c0003t0018g0003 a0001c0003t0019g0303 a0001c0003t0027g0008 a0001c0003t0038g0150 a0001c0003t0039g0248 a0001c0004t0001g0098 a0001c0004t0001g0101 a0001c0004t0001g0146 a0001c0004t0001g0152 a0001c0004t0001g0202 a0001c0004t0001g0215 a0001c0004t0001g0232 a0001c0004t0001g0253 a0001c0004t0001g0268 a0001c0004t0001g0312 a0001c0004t0001g0320 a0001c0004t0002g0293 a0001c0004t0011g0357 a0001c0004t0029g0035 a0001c0004t0036g0363 a0001c0005t0025g0148 a0001c0010t0002g0118 a0001c0010t0002g0216 a0001c0012t0002g0178 a0002c0007t0007g0182 a0002c0007t0008g0020 a0002c0007t0008g0180 a0002c0007t0008g0181 a0002c0007t0008g0184 a0002c0007t0008g0185 a0002c0007t0008g0186 a0002c0007t0008g0230 a0002c0007t0008g0265 a0002c0007t0079g0183	214	329	0.6505	299	c.-4- others(314): Show c.-4-4295_-4-4294insTACAGGCTCCAGGCTCAAGGGCAGACCCCT GGCTGTAGTGACAGACCCCAGGTCCTAGTAACAGGCTCCAGGCCCAAGGG GCAGACCCCAGGCCGTAGTTACAGGCTCCAGGCTCAAGGGGCAGACCCCT GGCTGTAGTGACAGACCCCAGGTCCTAGTAACAGGCTCCAGGCCCAAGGG GCAGACCCCAGGCCGTAGTTACAGGCTCCAGGCTCAAGGGGCAGACCCCT GGCTGTAGTGACAGACCCCAGGTCCTAGTAACAGGCTCCAGGCCCAAGGG GCAGACCCCAGGCCCTAGT	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3			chr5	TogoVar
TPPP_chr5_654862_698352	682358	T T	TACTAGGG others(292): Show TACTAGGGCCTGGGGTCTGCCCCTTGGGCCTGGAGCCTGTTACTAGGACC TGGGGTCTGTCACTACAGCCAGGGGTCTGCCCCTTGAGCCTGGAGCCTGT AACTACGGCCTGGGGTCTGCCCCTTGGGCCTGGAGCCTGTTACTAGGACC TGGGGTCTGTCACTACAGCCAGGGGTCTGCCCCTTGAGCCTGGAGCCTGT AACTAGGGCCTGGGGTCTGCCCCTTGGGCCTGGAGCCTGTTACTAGGACC TGGGGTCTGTCACTACAGCCAGGGGTCTGCCCTTGAGCCTGGAGCCTGTA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01978.hp1 HG02273.hp2 HG01099.hp2 HG01978.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0001 a0001c0001t0003 a0001c0004t0001	a0001c0001t0003g0356 a0001c0001t0003g0361 a0001c0004t0001g0139 a0001c0001t0003g0356 a0001c0001t0003g0361 a0001c0004t0001g0139	3	118	0.0254	299	c.-4- others(314): Show c.-4-4295_-4-4294insTACAGGCTCCAGGCTCAAGGGCAGACCCCT GGCTGTAGTGACAGACCCCAGGTCCTAGTAACAGGCTCCAGGCCCAAGGG GCAGACCCCAGGCCCTAGTTACAGGCTCCAGGCTCAAGGGGCAGACCCCT GGCTGTAGTGACAGACCCCAGGTCCTAGTAACAGGCTCCAGGCCCAAGGG GCAGACCCCAGGCCGTAGTTACAGGCTCCAGGCTCAAGGGGCAGACCCCT GGCTGTAGTGACAGACCCCAGGTCCTAGTAACAGGCTCCAGGCCCAAGGG GCAGACCCCAGGCCCTAGT	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3			chr5	TogoVar
TRAPPC12_chr2_3374694_3484565	3439546	G G	GTTGTTGA others(292): Show GTTGTTGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0041 a0002c0010t0002g0041	1	334	0.0030	299	c.141 others(318): Show c.1418-4221_1418-4220insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGG CGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTGTTGATTTTT	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TSGA10_chr2_98992261_99159942	99121450	T T	TGAAGTAT others(292): Show TGAAGTATCTCTTCATGTGTTTTGCTCATTTTCTAACTGAATTGTTTGCT TTTCACTATTCAACTTTAAGAGTTCTTCATTTGATACAATAGGTATGAGT CCTTTAGCAAATACGTGGCTTGTAGTTAGTCTTTTCAACATCTTAGCAGG TCTTCTGCAAAGTAAAAGACTAACTACAAACCACATATTTTCTAAAGGAC TCATACCTATTGCATCAAATGAAGAACTCTTAAAATTGAATAGTGAAAAG CAAACAATTCAGTTAGAAAATGAGCAAAACACATGAAGAGATACTTCACA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02896.hp2 HG03471.hp1 others(1): Show HG02818.hp2 HG02896.hp2 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 others(1): Show a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121	4	194	0.0206	299	c.-49 others(318): Show c.-491-2765_-491-2764insTGTGAAGTATCTCTTCATGTGTTTTG CTCATTTTCTAACTGAATTGTTTGCTTTTCACTATTCAATTTTAAGAGTT CTTCATTTGATGCAATAGGTATGAGTCCTTTAGAAAATATGTGGTTTGTA GTTAGTCTTTTACTTTGCAGAAGACCTGCTAAGATGTTGAAAAGACTAAC TACAAGCCACGTATTTGCTAAAGGACTCATACCTATTGTATCAAATGAAG AACTCTTAAAGTTGAATAGTGAAAAGCAAACAATTCAGTTAGAAAATGAG CAAAACACATGAAGAGATACTTC	TSGA10	ENSG00000135951.16	transcript	ENST00000393483.8	protein_coding	2/20			chr2	TogoVar
TSGA10_chr2_98992261_99159942	99121450	T T	TGAAGTAT others(292): Show TGAAGTATCTCTTCATGTGTTTTGCTCATTTTCTAACTGAATTGTTTGCT TTTCACTATTCAACTTTAAGAGTTCTTCATTTGATACAATAGGTATGAGT CCTTTAGCAAATACGTGGCTTGTAGTTAGTCTTTTCAACATCTTAGCAGG TCTTCTGCAAAGTAAAAGACTAACTACAAACCACGTATTTTCTAAAGGAC TCATACCTATTGCATCAAATGAAGAACTCTTAAAATTGAATAGTGAAAAG CAAACAATTCAGTTAGAAAATGAGCAAAACACATGAAGAGATACTTCACA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00544.hp1 others(124): Show HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG02040.hp1 HG02056.hp1 HG02080.hp1 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03491.hp2 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18971.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA19002.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19054.hp2 NA19056.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0004c0008 a0005c0003 others(1): Show a0001c0001 a0004c0008 a0005c0003 a0006c0006	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0004c0008t0001 a0005c0003t0001 a0006c0006t0001	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 others(124): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0010g0146 a0001c0001t0011g0106 a0001c0001t0012g0085 a0004c0008t0001g0036 a0005c0003t0001g0013 a0006c0006t0001g0016	127	317	0.4006	299	c.-49 others(318): Show c.-491-2765_-491-2764insTGTGAAGTATCTCTTCATGTGTTTTG CTCATTTTCTAACTGAATTGTTTGCTTTTCACTATTCAATTTTAAGAGTT CTTCATTTGATGCAATAGGTATGAGTCCTTTAGAAAATACGTGGTTTGTA GTTAGTCTTTTACTTTGCAGAAGACCTGCTAAGATGTTGAAAAGACTAAC TACAAGCCACGTATTTGCTAAAGGACTCATACCTATTGTATCAAATGAAG AACTCTTAAAGTTGAATAGTGAAAAGCAAACAATTCAGTTAGAAAATGAG CAAAACACATGAAGAGATACTTC	TSGA10	ENSG00000135951.16	transcript	ENST00000393483.8	protein_coding	2/20			chr2	TogoVar
TSGA10_chr2_98992261_99159942	99121450	T T	TGAAGTAT others(292): Show TGAAGTATCTCTTCATGTGTTTTGCTCATTTTCTAACTGAATTGTTTGCT TTTCACTATTCAACTTTAAGAGTTCTTCATTTGATACAATAGGTATGAGT CCTTTAGCAAATATGTGGCTTGTAGTTAGTCTTTTCAACATCTTAGCAGG TCTTCTGCAAAGTAAAAGACTAACTACAAACCACGTATTTTCTAAAGGAC TCATACCTATTGCATCAAATGAAGAACTCTTAAAATTGAATAGTGAAAAG CAAACAATTCAGTTAGAAAATGAGCAAAACACATGAAGAGATACTTCACA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	191	0.0052	299	c.-49 others(318): Show c.-491-2765_-491-2764insTGTGAAGTATCTCTTCATGTGTTTTG CTCATTTTCTAACTGAATTGTTTGCTTTTCACTATTCAATTTTAAGAGTT CTTCATTTGATGCAATAGGTATGAGTCCTTTAGAAAATACGTGGTTTGTA GTTAGTCTTTTACTTTGCAGAAGACCTGCTAAGATGTTGAAAAGACTAAC TACAAGCCACATATTTGCTAAAGGACTCATACCTATTGTATCAAATGAAG AACTCTTAAAGTTGAATAGTGAAAAGCAAACAATTCAGTTAGAAAATGAG CAAAACACATGAAGAGATACTTC	TSGA10	ENSG00000135951.16	transcript	ENST00000393483.8	protein_coding	2/20			chr2	TogoVar
TSNARE1_chr8_142207080_142408182	142390833	A A	ACAGACGC others(292): Show ACAGACGCTGTACACTGCGGGGGACTCCGTAACAGACGCTGTACACTGCG GGGGACTCCGTAACAGACGCTGTACACTGCTAACAGACGCTGTACACTGC TGGGGACTCCGTAACAGACGCTGTACACTGCTGGGGACTCCGTAACAGAC GCTGTACACTGCAGGGGACTCCGTAACAGACGCTGTACACTGCTGGGGAC TCCGTAGCAGACGCTGTACACTGCTGGGGACTCCGTAGCAGACGCTGTAC ACTGCGGGGGACTCCGTAGCAGACGCTGTACACTGCGGGGGACTCCGTAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02896.hp1 HG02622.hp1 HG02896.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0002 a0006c0006t0001 a0006c0006t0002	a0006c0006t0001g0236 a0006c0006t0002g0237 a0006c0006t0001g0236 a0006c0006t0002g0237	2	222	0.0090	299	c.-40 others(318): Show c.-40+12270_-40+12271insCTACGGAGTCCCCCGCAGTGTACAGC GTCTGCTACGGAGTCCCCCGCAGTGTACAGCGTCTGCTACGGAGTCCCCA GCAGTGTACAGCGTCTGCTACGGAGTCCCCAGCAGTGTACAGCGTCTGTT ACGGAGTCCCCTGCAGTGTACAGCGTCTGTTACGGAGTCCCCAGCAGTGT ACAGCGTCTGTTACGGAGTCCCCAGCAGTGTACAGCGTCTGTTAGCAGTG TACAGCGTCTGTTACGGAGTCCCCCGCAGTGTACAGCGTCTGTTACGGAG TCCCCCGCAGTGTACAGCGTCTG	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	1/13			chr8	TogoVar
TSPAN9_chr12_3072379_3291559	3198707	G G	GTCACACC others(292): Show GTCACACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGTC ACCAGCACAGGCCACCACCAGCACAGGTCACACCAGCACAGGCCACCACC AGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCACCACCAG CACAGGTCACCACCAGCACAGGCCACCACCAGCACAGCTCACCACCAGCA CAGCTCACCACCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACA GGTCACCACCAGCACAGGCCACCACCAGCACAGCTCACCACCAGCACAGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0287 a0001c0001t0038g0287	1	280	0.0036	299	c.-17 others(316): Show c.-17-2470_-17-2469insTCACACCAGCACAGGCCACCACCAGCAC AGGCCACCACCAGCACAGGTCACCAGCACAGGCCACCACCAGCACAGGTC ACACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGTCACC ACCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCACCAC CAGCACAGCTCACCACCAGCACAGCTCACCACCAGCACAGGCCACCACCA GCACAGGTCACCACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGC ACAGCTCACCACCAGCACAGC	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8			chr12	TogoVar
ULK1_chr12_131889622_131928150	131917104	C C	CGGGTTCG others(292): Show CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGC TGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGGTTCGGCTCGGAGGCCGTGGGATGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCCGTGGGAT GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0306 a0001c0002t0001g0306	1	312	0.0032	299	c.218 others(314): Show c.2182+44_2182+45insGTTCGGCTCGGAGGCTGTGGGACGGGGGTC GGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCT GTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGT TCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCCGTGG GATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGG CTCGGAGGCCGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACG GGGGTCGGGTGGGGCTTGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917104	C C	CGGGTTCG others(292): Show CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTG GGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGGGTGGG GCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGAT GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	312	0.0032	299	c.218 others(314): Show c.2182+44_2182+45insGTTCGGCTCGGAGGCTGTGGGACGGGGGTC GGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGATGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGT GGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGG GATGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGG CTTGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACG GGGGTCGGGTGGGGCTTGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917123	G G	GTCGGGTG others(292): Show GTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAG GCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTG GGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0091	1	203	0.0049	299	c.218 others(314): Show c.2182+65_2182+66insGTGGGGCTCGGAGGCTGTGGGACGGGGGTC GGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCT GTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGT GGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATG GGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
VCX_chrX_7838171_7849143	7844176	A A	AGGGAGGG others(292): Show AGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGG GGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGGGGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0003	a0007c0008t0003g0002 a0007c0008t0003g0002	1	305	0.0033	299	c.16 others(308): Show c.160_*161insGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGGGGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGTGTGGGGAGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAA GAGGTGGTGTGAG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		34		chrX	TogoVar
VCX_chrX_7838171_7849143	7844472	G G	GGGAGGAA others(292): Show GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGCT GGGGAGGGAGGGTGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAAGGTGTGTGGGGAGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	295	0.0034	299	c.45 others(308): Show c.456_*457insGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGCTGGGGAGGGAGGGTGGAAGAGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGAAGAAGGTGTGTGGGGAGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTG GGGAGGGAGGGAC	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		330		chrX	TogoVar
VGLL4_chr3_11551069_11648915	11604262	A A	ATGAATTC others(292): Show ATGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCCCCACCCCCAATC CTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCC CCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCCCCCC ACGCCCCCGCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCC AAAGCCCCCCACGCCCCCGCCCACCCCCAATCCTCCACAGCTCTGTGAAT TCCATCTTCCAAAGCGCCCCCACGCCCACCCCCCACCCCCAATCCTACAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0222 a0001c0002t0033g0222	1	285	0.0035	299	c.83- others(314): Show c.83-2241_83-2240insGTGTAGGATTGGGGGTGGGGGGTGGGCGTG GGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGG GCGGGGGCGTGGGGGGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGA TTGGGGGTGGGCGGGGGCGTGGGGGGCTTTGGAAGATGGAATTCACAGAG CTGTGGAGGATTGGGGGTGGGGGGTGGGCGTGGGGGCGCTTTGGAAGATG GAATTCACAGAGCTGTGGAGGATTGGGGGTGGGGGGTGGGCGTGGGGGCG CTTTGGAAGATGGAATTCA	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
VPS53_chr17_503668_719839	510333	T T	TCGCCCCT others(292): Show TCGCCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACTAGTCA CATATCAAATCCTGTCTCATCCCTCACTAGTCACATATCAAATCTTGGCT GACCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCAC ATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCC GACCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCAC ATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0212 a0001c0001t0104g0212	1	82	0.0122	299	c.87 others(310): Show c.8794_*8795insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG TGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG TGACTAGTAAGGGGTCAGCCAAGATTTGATATGTGACTAGTGAGGGATGA GACAGGATTTGATATGTGACTAGTGAGGGGCGAGCCAGGATTTGATATGT GACTGGTGAGGGGCG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	8794		chr17	TogoVar
VPS53_chr17_503668_719839	510333	T T	TCGCCCCT others(292): Show TCGCCCCTCACTAGTCACATATCAAATCCTGGCTCGCCCCTCACTAGTCA CATATCAAATCCTGTCTCATCCCTCACTAGTCACATATCAAATCTTGGCT GACCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCAC ATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCC GACCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCAC ATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG01081.hp2 HG01175.hp2 others(29): Show HG00741.hp2 HG01081.hp2 HG01175.hp2 HG01192.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01978.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02280.hp2 HG02300.hp2 HG02602.hp2 HG03492.hp2 HG03516.hp1 HG03688.hp2 NA18940.hp2 NA18967.hp2 NA18983.hp2 NA19009.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0011 a0001c0001t0017 others(13): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0017 a0001c0001t0033 a0001c0001t0070 a0001c0001t0081 a0001c0001t0103 a0001c0001t0107 a0001c0001t0110 a0001c0001t0111 a0001c0001t0113 a0001c0001t0121 a0001c0007t0011 a0001c0007t0012 a0001c0007t0024 a0001c0007t0071	a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 others(29): Show a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0011g0013 a0001c0001t0017g0118 a0001c0001t0017g0124 a0001c0001t0017g0125 a0001c0001t0033g0119 a0001c0001t0033g0120 a0001c0001t0070g0012 a0001c0001t0081g0046 a0001c0001t0103g0117 a0001c0001t0107g0127 a0001c0001t0110g0122 a0001c0001t0111g0142 a0001c0001t0113g0230 a0001c0001t0121g0132 a0001c0007t0011g0105 a0001c0007t0011g0106 a0001c0007t0012g0107 a0001c0007t0012g0110 a0001c0007t0012g0111 a0001c0007t0024g0108 a0001c0007t0024g0109 a0001c0007t0071g0112	32	113	0.2832	299	c.87 others(310): Show c.8794_*8795insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG TGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG TGACTAGTAAGGGGTCAGCCAAGATTTGATATGTGACTAGTGAGGGATGA GACAGGATTTGATATGTGACTAGTGAGGGGCGAGCCAGGATTTGATATGT GACTAGTGAGGGGCG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	8794		chr17	TogoVar
ZBTB43_chr9_126800040_126843210	126814265	G G	GATTTTTA others(292): Show GATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACA GATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAA AATTTTTACAGATGAAATTTCATCTGTAAAATTTTTACAGATGAAATTTA CATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAG ATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	78	0.0128	299	c.-24 others(316): Show c.-24+5412_-24+5413insTTTTACAGATGAAATTTACATCTGTAAA ATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTA CATCTGTAAAATTTTTACAGATGAAATTTCATCTGTAAAATTTTTACAGA TGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAA TTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTAC ATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGA TGAAATTTACATCTGTAAAAT	ZBTB43	ENSG00000169155.10	transcript	ENST00000373464.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZDHHC11B_chr5_705355_789729	749002	A A	ACTAAGTG others(292): Show ACTAAGTGCCAGGGTCACAGCACCCATCCCTTCCTTATTTAGTGCCAGGG TCACAGTGCCCACCCCTTCCTAAGTGCCGGGGTCACAGCACCCACCCCTT CCTAAGTGCTGGGGTCACAGTGCCTGCCGGCTCTGCCGGGCCCCAGCACC CATCCTTTCCTAAGTGCCAGGGGCCCCAGCACCCACCCCTTCCTTACTAA GTGCCAGGGTCACAGTGCCCACCCCTTCCTTACTAAGTGCCGGGGTCACA GTGCCCACCCCTTCCTCACTAAGTGCCAGGGTCACAGTGCCCACCCCTTC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0012 a0001c0002t0036g0012	1	170	0.0059	299	c.629 others(314): Show c.629-444_629-443insGAAGGGGTGGGCACTGTGACCCTGGCACTT AGTGAGGAAGGGGTGGGCACTGTGACCCCGGCACTTAGTAAGGAAGGGGT GGGCACTGTGACCCTGGCACTTAGTAAGGAAGGGGTGGGTGCTGGGGCCC CTGGCACTTAGGAAAGGATGGGTGCTGGGGCCCGGCAGAGCCGGCAGGCA CTGTGACCCCAGCACTTAGGAAGGGGTGGGTGCTGTGACCCCGGCACTTA GGAAGGGGTGGGCACTGTGACCCTGGCACTAAATAAGGAAGGGATGGGTG CTGTGACCCTGGCACTTAG	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	7/13			chr5	TogoVar
ZNF778_chr16_89212703_89242141	89215276	G G	GAACATGA others(292): Show GAACATGAAAAGATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTA GCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0141 a0006c0007t0141	a0006c0007t0141g0008 a0006c0007t0141g0008	1	376	0.0027	299	c.-27 others(310): Show c.-2766_-2765insAACATGAAAAGATGGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTC AGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAA AAATACAAAAAATTAGCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAA	ZNF778	ENSG00000170100.14	transcript	ENST00000433976.7	protein_coding		2426		chr16	TogoVar

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