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
TFR2_chr7_100615420_100646552	100634177	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	58	0.0172	34	c.474 others(49): Show c.474-655_474-622dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	TFR2	ENSG00000106327.13	transcript	ENST00000223051.8	protein_coding	3/17			chr7	TogoVar
TGFA_chr2_70442284_70558826	70504447	T T	TATATATA others(27): Show TATATATATATATATATATATATACATATACATAC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0041 a0001c0002t0003g0041	1	297	0.0034	34	c.94+ others(51): Show c.94+10411_94+10412insGTATGTATATGTATATATATATATATAT ATATAT	TGFA	ENSG00000163235.16	transcript	ENST00000295400.11	protein_coding	2/5			chr2	TogoVar
TGFA_chr2_70442284_70558826	70504449	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02165.hp2 NA18946.hp2 others(3): Show HG02015.hp1 HG02165.hp2 NA18946.hp2 NA18953.hp1 NA18963.hp2 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0002t0003 a0001c0001t0018 a0001c0002t0003	a0001c0001t0018g0025 a0001c0002t0003g0008 a0001c0002t0003g0134 others(2): Show a0001c0001t0018g0025 a0001c0002t0003g0008 a0001c0002t0003g0134 a0001c0002t0003g0158 a0001c0002t0003g0249	6	316	0.0190	34	c.94+ others(51): Show c.94+10409_94+10410insGTATGTATATATATATATATATATATAT ATATAT	TGFA	ENSG00000163235.16	transcript	ENST00000295400.11	protein_coding	2/5			chr2	TogoVar
TGFB2_chr1_218340336_218449619	218447928	C C	CATATATA others(27): Show CATATATATAAATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0205 a0001c0001t0049g0205	1	19	0.0526	34	c.65 others(45): Show c.6566_*6567insATATATATAAATATATATATATATATATATATAA	TGFB2	ENSG00000092969.12	transcript	ENST00000366930.9	protein_coding		3310		chr1	TogoVar
THADA_chr2_43225851_43601038	43229819	A A	AGAGTGTG others(27): Show AGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG03579.hp1 HG02630.hp2 HG02647.hp1 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0024 a0002c0003 a0002c0024	a0002c0003t0001 a0002c0024t0001 a0002c0003t0001 a0002c0024t0001	a0002c0003t0001g0109 a0002c0003t0001g0156 a0002c0024t0001g0108 a0002c0003t0001g0109 a0002c0003t0001g0156 a0002c0024t0001g0108	3	115	0.0261	34	c.11 others(45): Show c.1128_*1129insACACACACACACACACACACACACACACACACTC	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding		1031		chr2	TogoVar
THADA_chr2_43225851_43601038	43400457	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01261.hp2 HG01168.hp2 HG01261.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0039 a0005c0004t0001g0040 a0005c0004t0001g0039 a0005c0004t0001g0040	2	116	0.0172	34	c.405 others(53): Show c.4059-2319_4059-2318insTATATATATATATATATATATATATA TATATATA	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	28/37			chr2	TogoVar
THAP4_chr2_241579405_241642158	241620614	A A	ATGAGTGA others(27): Show ATGAGTGAGGGGTGAGTGAGTCAGTGAGTGAGGGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0088 a0002c0003t0001g0088	1	388	0.0026	34	c.124 others(55): Show c.1240+12269_1240+12302dupCCCCTCACTCACTGACTCACTCAC CCCTCACTCA	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding	2/5			chr2	TogoVar
THAP5_chr7_108557132_108574706	108558377	G G	GTGTGTAT others(27): Show GTGTGTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0023 a0001c0001t0015g0023	1	334	0.0030	34	c.58 others(45): Show c.5813_*5814insTATATATATATATATATATATATATATATACACA	THAP5	ENSG00000177683.14	transcript	ENST00000415914.4	protein_coding		3754		chr7	TogoVar
THBS1_chr15_39576079_39604466	39581639	C C	CCTCTCTC others(27): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19060.hp2 NA19057.hp1 NA19060.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0015 a0005c0009t0015	a0005c0009t0015g0029 a0005c0009t0015g0029	2	244	0.0082	34	c.-29 others(49): Show c.-29-161_-29-160insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC	THBS1	ENSG00000137801.11	transcript	ENST00000260356.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
THBS2_chr6_169210785_169258846	169213528	A A	AGACTCAG others(27): Show AGACTCAGGGGAGCCAGAGGGGCCGGACCGCTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	394	0.0025	34	c.42 others(45): Show c.4293_*4294insCTCAGCGGTCCGGCCCCTCTGGCTCCCCTGAGTC	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding		2256		chr6	TogoVar
THBS2_chr6_169210785_169258846	169243011	A A	ACCTTCCC others(27): Show ACCTTCCCACCGCTCCCACCTTCCCACCTTCCCAC	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18944.hp1 HG02080.hp2 NA18944.hp1	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0003 a0001c0008t0006 a0001c0004t0003 a0001c0008t0006	a0001c0004t0003g0272 a0001c0008t0006g0249 a0001c0004t0003g0272 a0001c0008t0006g0249	2	382	0.0052	34	c.695 others(51): Show c.695-1054_695-1053insGTGGGAAGGTGGGAAGGTGGGAGCGGTG GGAAGG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS3_chr1_155190588_155212897	155211376	T T	TTATTTCC others(27): Show TTATTTCCTAACACAGGGGCATTCAGAGAAAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	296	0.0034	34	c.-35 others(45): Show c.-3534_-3501dupTCTCTTTCTCTGAATGCCCCTGTGTTAGGAAATA	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		3480		chr1	TogoVar
THBS4_chr5_80030348_80088287	80080579	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	118	0.0085	34	c.268 others(51): Show c.2684+527_2684+528insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	THBS4	ENSG00000113296.14	transcript	ENST00000350881.6	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
THEM4_chr1_151865866_151914511	151878889	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19077.hp1 NA18950.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0019 a0001c0001t0011 a0001c0001t0019	a0001c0001t0011g0232 a0001c0001t0019g0147 a0001c0001t0011g0232 a0001c0001t0019g0147	2	60	0.0333	34	c.558 others(51): Show c.558-1765_558-1764insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	THEM4	ENSG00000159445.13	transcript	ENST00000368814.8	protein_coding	4/5			chr1	TogoVar
THEMIS_chr6_127703200_127906058	127731864	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02965.hp1 HG03516.hp2 others(1): Show HG02895.hp1 HG02965.hp1 HG03516.hp2 NA18955.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0001c0002t0003 a0002c0001t0001 a0001c0002t0001 a0001c0002t0003 a0002c0001t0001	a0001c0002t0001g0076 a0001c0002t0001g0177 a0001c0002t0003g0185 others(1): Show a0001c0002t0001g0076 a0001c0002t0001g0177 a0001c0002t0003g0185 a0002c0001t0001g0096	4	9	0.4444	34	c.175 others(55): Show c.1759-12042_1759-12041insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	4/5			chr6	TogoVar
THNSL1_chr10_25011612_25031664	25020276	A A	ATATCTAT others(27): Show ATATCTATATCTATATCTATATCTATATCTATATC	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA19055.hp1 HG04204.hp1 NA19055.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0002 a0003c0005t0002 a0001c0002t0002 a0003c0005t0002	a0001c0002t0002g0001 a0003c0005t0002g0024 a0001c0002t0002g0001 a0003c0005t0002g0024	2	273	0.0073	34	c.-21 others(53): Show c.-215-1463_-215-1462insCTATATCTATATCTATATCTATATCT ATATCTAT	THNSL1	ENSG00000185875.13	transcript	ENST00000376356.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
THNSL2_chr2_88165346_88191627	88179667	C C	CATTTTCT others(27): Show CATTTTCTCTAATAATCATTAATATTTATCAAGCA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0013 a0003c0005t0007g0013	1	52	0.0192	34	c.802 others(49): Show c.802+655_802+688dupATTTTCTCTAATAATCATTAATATTTATCA AGCA	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
THRB_chr3_24112153_24499850	24168489	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA18991.hp2 NA19043.hp2 HG01257.hp2 NA18991.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0027 a0001c0001t0001 a0001c0002t0027	a0001c0001t0001g0072 a0001c0001t0001g0166 a0001c0002t0027g0113 a0001c0001t0001g0072 a0001c0001t0001g0166 a0001c0002t0027g0113	3	166	0.0181	34	c.284 others(53): Show c.284-16000_284-15999insTATATATATATATATATATATATATA TATATATA	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	5/10			chr3	TogoVar
THRB_chr3_24112153_24499850	24168490	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18975.hp2 NA18906.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0104 a0001c0001t0006g0129 a0001c0001t0004g0104 a0001c0001t0006g0129	2	128	0.0156	34	c.284 others(53): Show c.284-16001_284-16000insATATATATATATATATATATATATAT ATATATAT	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	5/10			chr3	TogoVar
THRB_chr3_24112153_24499850	24188858	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03195.hp2 HG01981.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0035 a0001c0002t0003 a0001c0001t0035 a0001c0002t0003	a0001c0001t0035g0106 a0001c0002t0003g0165 a0001c0001t0035g0106 a0001c0002t0003g0165	2	51	0.0392	34	c.283 others(51): Show c.283+1215_283+1216insATATATATATATATATATATATATATAT ATATAT	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	5/10			chr3	TogoVar
THRB_chr3_24112153_24499850	24233587	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0002 a0001c0001t0011g0002	1	169	0.0059	34	c.-42 others(51): Show c.-42-4587_-42-4586insATTTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	3/10			chr3	TogoVar
THRB_chr3_24112153_24499850	24233591	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0112 a0001c0001t0007g0112	1	170	0.0059	34	c.-42 others(51): Show c.-42-4591_-42-4590insATTTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	3/10			chr3	TogoVar
THRB_chr3_24112153_24499850	24233595	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0138 a0001c0002t0012g0138	1	127	0.0079	34	c.-42 others(51): Show c.-42-4595_-42-4594insATTTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	3/10			chr3	TogoVar
THSD4_chr15_71110471_71788383	71377875	C C	CACACACA others(27): Show CACACACACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01884.hp2 HG02738.hp1 others(2): Show HG00642.hp1 HG01884.hp2 HG02738.hp1 HG03486.hp2 HG03540.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0006c0013	a0001c0001t0011 a0001c0001t0028 a0001c0003t0014 others(2): Show a0001c0001t0011 a0001c0001t0028 a0001c0003t0014 a0001c0004t0005 a0006c0013t0001	a0001c0001t0011g0028 a0001c0001t0028g0009 a0001c0003t0014g0116 others(2): Show a0001c0001t0011g0028 a0001c0001t0028g0009 a0001c0003t0014g0116 a0001c0004t0005g0109 a0006c0013t0001g0038	5	112	0.0446	34	c.101 others(55): Show c.1016-33779_1016-33778insAACACACACACACACACACACACA CACACACACA	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71724266	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	101	0.0099	34	c.135 others(53): Show c.1358-4261_1358-4260insATATATATATATATATATATATATAT ATATATAT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71724287	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0028 a0001c0001t0011g0028	1	67	0.0149	34	c.135 others(53): Show c.1358-4261_1358-4260insATATATATATATATATATATATATAT ATATTTTT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71724287	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03471.hp2 HG03710.hp2 HG01167.hp2 HG03471.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0009 a0001c0001t0001 a0001c0002t0001 a0001c0002t0009	a0001c0001t0001g0020 a0001c0002t0001g0090 a0001c0002t0009g0091 a0001c0001t0001g0020 a0001c0002t0001g0090 a0001c0002t0009g0091	3	69	0.0435	34	c.135 others(53): Show c.1358-4261_1358-4260insATATATATATATATATATATATATAT ATTTTTTT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD7A_chr7_11365365_11837198	11509821	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02280.hp1 HG02818.hp1 others(1): Show HG00735.hp2 HG02280.hp1 HG02818.hp1 HG03831.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0002 a0001c0003 a0002c0009 others(1): Show a0001c0002 a0001c0003 a0002c0009 a0010c0054	a0001c0002t0039 a0001c0003t0060 a0002c0009t0010 others(1): Show a0001c0002t0039 a0001c0003t0060 a0002c0009t0010 a0010c0054t0002	a0001c0002t0039g0154 a0001c0003t0060g0163 a0002c0009t0010g0170 others(1): Show a0001c0002t0039g0154 a0001c0003t0060g0163 a0002c0009t0010g0170 a0010c0054t0002g0137	4	61	0.0656	34	c.182 others(55): Show c.1823-27840_1823-27839insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	6/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11512942	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp2 HG02572.hp1 others(7): Show HG00639.hp2 HG01243.hp2 HG02572.hp1 HG02647.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 NA18968.hp2 NA19043.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0001c0011 others(4): Show a0001c0001 a0001c0002 a0001c0011 a0001c0042 a0001c0061 a0002c0008 a0008c0018	a0001c0001t0001 a0001c0001t0019 a0001c0001t0043 others(7): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0043 a0001c0002t0007 a0001c0011t0054 a0001c0042t0051 a0001c0061t0013 a0002c0008t0002 a0008c0018t0013 a0008c0018t0037	a0001c0001t0001g0156 a0001c0001t0019g0059 a0001c0001t0043g0036 others(7): Show a0001c0001t0001g0156 a0001c0001t0019g0059 a0001c0001t0043g0036 a0001c0002t0007g0068 a0001c0011t0054g0139 a0001c0042t0051g0152 a0001c0061t0013g0070 a0002c0008t0002g0020 a0008c0018t0013g0133 a0008c0018t0037g0033	10	87	0.1149	34	c.182 others(55): Show c.1822+28476_1822+28477insATATATATATATATATATATATAT ATATATATAT	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	6/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11546200	G G	GTGTGTGC others(27): Show GTGTGTGCGCGCGCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02145.hp1 HG02300.hp1 others(5): Show HG02027.hp1 HG02145.hp1 HG02300.hp1 HG02523.hp1 NA18959.hp1 NA18990.hp2 NA18999.hp2 NA19091.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0006 a0001c0012 others(3): Show a0001c0001 a0001c0006 a0001c0012 a0002c0005 a0002c0007 a0004c0047	a0001c0001t0005 a0001c0006t0001 a0001c0012t0001 others(4): Show a0001c0001t0005 a0001c0006t0001 a0001c0012t0001 a0002c0005t0003 a0002c0005t0023 a0002c0007t0002 a0004c0047t0005	a0001c0001t0005g0099 a0001c0001t0005g0115 a0001c0006t0001g0120 others(5): Show a0001c0001t0005g0099 a0001c0001t0005g0115 a0001c0006t0001g0120 a0001c0012t0001g0007 a0002c0005t0003g0135 a0002c0005t0023g0002 a0002c0007t0002g0013 a0004c0047t0005g0122	8	127	0.0630	34	c.145 others(53): Show c.1454-3084_1454-3083insTGTGTGTGTGTGTGTGTGCGCGCGCG CGCACACA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	4/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11546200	G G	GTGTGTGC others(27): Show GTGTGTGCGCGCGCGCGCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0005 a0005	a0005c0025 a0005c0025	a0005c0025t0048 a0005c0025t0048	a0005c0025t0048g0040 a0005c0025t0048g0040	1	120	0.0083	34	c.145 others(53): Show c.1454-3084_1454-3083insTGTGTGTGTGTGTGCGCGCGCGCGCG CGCACACA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	4/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11769153	A A	ATATATAT others(27): Show ATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19079.hp1 NA18999.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0004 a0002c0005t0002 a0001c0001t0004 a0002c0005t0002	a0001c0001t0004g0104 a0002c0005t0002g0127 a0001c0001t0004g0104 a0002c0005t0002g0127	2	61	0.0328	34	c.190 others(53): Show c.190+62603_190+62604insAAAAAAAAAAAAAAAATATATATATA TATATATA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7B_chr2_136760545_137682718	136983358	G G	GACACACA others(27): Show GACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0001 a0002c0029t0001	a0002c0029t0001g0026 a0002c0029t0001g0026	1	14	0.0714	34	c.140 others(53): Show c.140-73050_140-73049insACACACACACACACACACACACACAC ACACACAC	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137211340	A A	ACACACAC others(27): Show ACACACACACACACACACACACACACACACAGAGG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02258.hp1 HG02717.hp2 others(5): Show HG01358.hp2 HG02258.hp1 HG02717.hp2 HG02897.hp1 HG03041.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp1	a0005 a0006 a0011 others(2): Show a0005 a0006 a0011 a0014 a0020	a0005c0009 a0006c0011 a0006c0046 others(3): Show a0005c0009 a0006c0011 a0006c0046 a0011c0039 a0014c0038 a0020c0047	a0005c0009t0001 a0005c0009t0007 a0006c0011t0003 others(5): Show a0005c0009t0001 a0005c0009t0007 a0006c0011t0003 a0006c0011t0005 a0006c0046t0004 a0011c0039t0002 a0014c0038t0007 a0020c0047t0002	a0005c0009t0001g0009 a0005c0009t0007g0008 a0006c0011t0003g0092 others(5): Show a0005c0009t0001g0009 a0005c0009t0007g0008 a0006c0011t0003g0092 a0006c0011t0005g0096 a0006c0046t0004g0017 a0011c0039t0002g0004 a0014c0038t0007g0010 a0020c0047t0002g0032	8	83	0.0964	34	c.172 others(55): Show c.1724-19679_1724-19678insACACAGAGGCACACACACACACAC ACACACACAC	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137211350	A A	ACACACAC others(27): Show ACACACACACACACACACACACACACACACAGAGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp1 HG01169.hp1 others(7): Show HG00609.hp2 HG00738.hp1 HG01169.hp1 HG01358.hp1 HG01515.hp1 HG02630.hp2 HG02965.hp2 HG03139.hp1 HG04199.hp2 NA18990.hp2	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0010	a0001c0001 a0001c0004 a0001c0005 others(6): Show a0001c0001 a0001c0004 a0001c0005 a0001c0010 a0002c0003 a0002c0020 a0002c0052 a0009c0034 a0010c0035	a0001c0001t0010 a0001c0004t0001 a0001c0005t0002 others(7): Show a0001c0001t0010 a0001c0004t0001 a0001c0005t0002 a0001c0005t0010 a0001c0010t0002 a0002c0003t0009 a0002c0020t0004 a0002c0052t0008 a0009c0034t0001 a0010c0035t0001	a0001c0001t0010g0087 a0001c0004t0001g0058 a0001c0005t0002g0022 others(7): Show a0001c0001t0010g0087 a0001c0004t0001g0058 a0001c0005t0002g0022 a0001c0005t0010g0078 a0001c0010t0002g0053 a0002c0003t0009g0075 a0002c0020t0004g0067 a0002c0052t0008g0042 a0009c0034t0001g0064 a0010c0035t0001g0063	10	76	0.1316	34	c.172 others(55): Show c.1724-19679_1724-19678insACACACACACACACAGAGGCACAC ACACACACAC	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TIAM1_chr21_31113418_31349261	31228235	A A	AAAAGGAG others(27): Show AAAAGGAGAAATAATCTGATAAGGATTTTTCCTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0059 a0001c0001t0006g0059	1	187	0.0053	34	c.158 others(53): Show c.1585-2286_1585-2285insAAAGGAAAAATCCTTATCAGATTATT TCTCCTTT	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	6/27			chr21	TogoVar
TIAM1_chr21_31113418_31349261	31228236	A A	AAAAGGAG others(27): Show AAAAGGAGAAATAATCTGATAAGGATTTTTCCTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0064 a0001c0006t0001g0064	1	208	0.0048	34	c.158 others(53): Show c.1585-2287_1585-2286insAAAGGAAAAATCCTTATCAGATTATT TCTCCTTT	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	6/27			chr21	TogoVar
TIAM2_chr6_154990315_155262723	155027546	A A	ATACTGTG others(27): Show ATACTGTGTTACATATATACTATATATAATATATG	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA20129.hp2 HG02818.hp1 NA20129.hp2	a0002 a0002	a0002c0016 a0002c0030 a0002c0016 a0002c0030	a0002c0016t0008 a0002c0030t0008 a0002c0016t0008 a0002c0030t0008	a0002c0016t0008g0067 a0002c0030t0008g0066 a0002c0016t0008g0067 a0002c0030t0008g0066	2	81	0.0247	34	c.-20 others(55): Show c.-209+32300_-209+32333dupTTACATATATACTATATATAATAT ATGTACTGTG	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155027867	C C	CTATATAA others(27): Show CTATATAATATATGTACTGTGTTACATATATACTA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0142 a0002c0003t0003g0142	1	166	0.0060	34	c.-20 others(55): Show c.-209+32380_-209+32413dupTAATATATGTACTGTGTTACATAT ATACTATATA	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155028020	T T	TTATATAC others(27): Show TTATATACTATATATAATATATGTACTGTGTTACA	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA19079.hp1 HG02155.hp2 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0018 a0001c0002t0004g0030 a0001c0002t0001g0018 a0001c0002t0004g0030	2	171	0.0117	34	c.-20 others(55): Show c.-209+32625_-209+32658dupGTTACATATATACTATATATAATA TATGTACTGT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155028395	C C	CATATATA others(27): Show CATATATATATACTGTGTTACATATACTACATATA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01891.hp1 HG02145.hp1 others(2): Show HG01071.hp2 HG01891.hp1 HG02145.hp1 HG02895.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0042 others(1): Show a0001c0001 a0001c0002 a0001c0042 a0001c0043	a0001c0001t0004 a0001c0001t0021 a0001c0002t0005 others(2): Show a0001c0001t0004 a0001c0001t0021 a0001c0002t0005 a0001c0042t0006 a0001c0043t0008	a0001c0001t0004g0135 a0001c0001t0021g0229 a0001c0002t0005g0223 others(2): Show a0001c0001t0004g0135 a0001c0001t0021g0229 a0001c0002t0005g0223 a0001c0042t0006g0048 a0001c0043t0008g0065	5	122	0.0410	34	c.-20 others(55): Show c.-209+32912_-209+32913insTACTGTGTTACATATACTACATAT AATATATATA	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155028831	A A	ATATATAT others(27): Show ATATATATACTATGTTATATATACACTGTATATAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0006 a0001c0041t0006	a0001c0041t0006g0076 a0001c0041t0006g0076	1	226	0.0044	34	c.-20 others(55): Show c.-209+33343_-209+33376dupATATACTATGTTATATATACACTG TATATACTAT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIMELESS_chr12_56411363_56454426	56420029	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0333 a0001c0003t0002g0333	1	255	0.0039	34	c.322 others(51): Show c.3228+539_3228+540insATATATATATATATATATTTTTTTTTTT TTTTTT	TIMELESS	ENSG00000111602.12	transcript	ENST00000553532.6	protein_coding	26/28			chr12	TogoVar
TIMELESS_chr12_56411363_56454426	56420029	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0335 a0001c0003t0002g0335	1	255	0.0039	34	c.322 others(51): Show c.3228+539_3228+540insATATATATATATATATATATATTTTTTT TTTTTT	TIMELESS	ENSG00000111602.12	transcript	ENST00000553532.6	protein_coding	26/28			chr12	TogoVar
TIMELESS_chr12_56411363_56454426	56420029	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0337 a0001c0003t0002g0337	1	255	0.0039	34	c.322 others(51): Show c.3228+539_3228+540insATATATATATATATATATATATATTTTT TTTTTT	TIMELESS	ENSG00000111602.12	transcript	ENST00000553532.6	protein_coding	26/28			chr12	TogoVar
TIMM9_chr14_58403495_58432531	58404099	G G	GTGTGTAT others(27): Show GTGTGTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01496.hp1 HG02132.hp2 others(8): Show HG00741.hp2 HG01496.hp1 HG02132.hp2 HG02273.hp2 HG02300.hp1 NA18967.hp1 NA18981.hp1 NA19003.hp1 NA19009.hp1 NA19074.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0012 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0052 a0001c0001t0001g0188 a0001c0001t0001g0214 a0001c0001t0001g0228	11	226	0.0487	34	c.49 others(45): Show c.4934_*4935insTATATATATATATATATATATATATATATACACA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4395		chr14	TogoVar
TIMM9_chr14_58403495_58432531	58404099	G G	GTGTGTGT others(27): Show GTGTGTGTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01070.hp2 HG01099.hp1 others(4): Show HG00738.hp1 HG01070.hp2 HG01099.hp1 HG01517.hp2 HG02083.hp1 NA18972.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0016 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0009g0250	7	222	0.0315	34	c.49 others(45): Show c.4934_*4935insTATATATATATATATATATATATATATACACACA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4395		chr14	TogoVar
TIMM9_chr14_58403495_58432531	58404119	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	29	0.0345	34	c.49 others(45): Show c.4914_*4915insAAAAAATATATATATATATATATATATATATATA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4375		chr14	TogoVar
TIMM9_chr14_58403495_58432531	58404119	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	29	0.0345	34	c.49 others(45): Show c.4914_*4915insAAAAAAAATATATATATATATATATATATATATA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4375		chr14	TogoVar
TIMM9_chr14_58403495_58432531	58404119	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG02293.hp2 HG01928.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0190 a0001c0001t0001g0171 a0001c0001t0001g0190	2	30	0.0667	34	c.49 others(45): Show c.4914_*4915insAAAAAAAAAATATATATATATATATATATATATA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4375		chr14	TogoVar

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