Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TBC1D22A_chr22_46757650_47180693	46984366	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0068 a0001c0001t0016g0068	1	12	0.0833	-18	c.112 others(38): Show c.1125+9990_1125+10007delAAAAAAAAAAAAAAAAAA		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22B_chr6_37252772_37337970	37261944	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02258.hp2 others(11): Show HG02109.hp1 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02622.hp1 HG02630.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp2 HG03453.hp1 HG03540.hp2 NA18522.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0141 a0001c0001t0003g0113 a0001c0001t0003g0123 others(10): Show a0001c0001t0001g0141 a0001c0001t0003g0113 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0008g0002 a0001c0001t0008g0127 a0001c0001t0008g0129	14	24	0.5833	-18	c.56+ others(33): Show c.56+4006_56+4023delGTGTGTGTGTGTGTGTGT		TBC1D22B	ENSG00000065491.8	transcript	ENST00000373491.3	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
TBC1D22B_chr6_37252772_37337970	37330222	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA19083.hp2 HG02165.hp1 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0080 a0001c0002t0002g0081	2	21	0.0952	-18	c.139 others(35): Show c.1390-804_1390-787delTTTTTTTTTTTTTTTTTT		TBC1D22B	ENSG00000065491.8	transcript	ENST00000373491.3	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
TBC1D2B_chr15_77989985_78082711	77992862	CCCCCCCA others(11): Show CCCCCCCACTCCCCCCACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG02809.hp1 HG03209.hp1 others(1): Show HG00280.hp1 HG02809.hp1 HG03209.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0039 a0001c0002t0025 a0001c0002t0036 others(1): Show a0001c0001t0039 a0001c0002t0025 a0001c0002t0036 a0002c0003t0002	a0001c0001t0039g0144 a0001c0002t0025g0070 a0001c0002t0036g0029 others(1): Show a0001c0001t0039g0144 a0001c0002t0025g0070 a0001c0002t0036g0029 a0002c0003t0002g0007	4	233	0.0172	-18	c.52 others(29): Show c.5280_*5297delAGTGGGGGGAGTGGGGGG		TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding					2122		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	78067798	CTCATTAG others(11): Show CTCATTAGAAGATGGTGAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0199 a0002c0003t0001g0199	1	278	0.0036	-18	c.360 others(35): Show c.360+9477_360+9494delATCACCATCTTCTAATGA		TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	1/12						chr15	TogoVar
TBC1D31_chr8_123067707_123157153	123070367	GTGTGTGT others(11): Show GTGTGTGTATGTATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	1	320	0.0031	-18	c.-24 others(29): Show c.-2402_-2385delTGTGTGTATGTATATATA		TBC1D31	ENSG00000156787.17	transcript	ENST00000287380.6	protein_coding					2339		chr8	TogoVar
TBC1D31_chr8_123067707_123157153	123070371	GTGTATGT others(11): Show GTGTATGTATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00673.hp2 NA20129.hp2 HG00323.hp1 HG00673.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0001t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0295 a0001c0003t0001g0306 a0001c0005t0001g0283 a0001c0001t0001g0295 a0001c0003t0001g0306 a0001c0005t0001g0283	3	278	0.0108	-18	c.-23 others(29): Show c.-2398_-2381delTGTATGTATATATATATA		TBC1D31	ENSG00000156787.17	transcript	ENST00000287380.6	protein_coding					2335		chr8	TogoVar
TBC1D31_chr8_123067707_123157153	123070377	GTATATAT others(11): Show GTATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG03225.hp1 NA18948.hp1 HG01109.hp1 HG03225.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0001 a0001c0002t0001 a0001c0008t0001	a0001c0002t0001g0083 a0001c0002t0001g0255 a0001c0008t0001g0060 a0001c0002t0001g0083 a0001c0002t0001g0255 a0001c0008t0001g0060	3	91	0.0330	-18	c.-23 others(29): Show c.-2392_-2375delTATATATATATATATATA		TBC1D31	ENSG00000156787.17	transcript	ENST00000287380.6	protein_coding					2329		chr8	TogoVar
TBC1D32_chr6_121074494_121339480	121085268	CATATATA others(11): Show CATATATACGTATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp1 HG02896.hp2 others(4): Show HG02055.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03195.hp1 HG03516.hp1 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0027 a0001c0003t0006 a0001c0003t0027	a0001c0003t0006g0244 a0001c0003t0006g0245 a0001c0003t0006g0246 others(4): Show a0001c0003t0006g0244 a0001c0003t0006g0245 a0001c0003t0006g0246 a0001c0003t0006g0248 a0001c0003t0006g0249 a0001c0003t0006g0250 a0001c0003t0027g0247	7	286	0.0245	-18	c.365 others(37): Show c.3655-4396_3655-4379delATATATATACGTATATAT		TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	31/31						chr6	TogoVar
TBC1D32_chr6_121074494_121339480	121190073	GACACACA others(11): Show GACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02165.hp1 NA18953.hp1 others(2): Show HG00673.hp2 HG02165.hp1 NA18953.hp1 NA18991.hp1 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0001 a0002c0002t0002 a0001c0006t0001 a0002c0002t0002	a0001c0006t0001g0111 a0002c0002t0002g0252 a0002c0002t0002g0263 others(2): Show a0001c0006t0001g0111 a0002c0002t0002g0252 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265	5	31	0.1613	-18	c.257 others(39): Show c.2570+14984_2570+15001delGTGTGTGTGTGTGTGTGT		TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	22/31						chr6	TogoVar
TBC1D32_chr6_121074494_121339480	121213463	TAATAATA others(11): Show TAATAATAAAATAAAATAA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02965.hp2 HG02647.hp2 HG02965.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0019 a0006c0011t0019	a0006c0011t0019g0285 a0006c0011t0019g0286 a0006c0011t0019g0285 a0006c0011t0019g0286	2	280	0.0071	-18	c.248 others(37): Show c.2482-8318_2482-8301delTTATTTTATTTTATTATT		TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	21/31						chr6	TogoVar
TBC1D32_chr6_121074494_121339480	121313105	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp1 HG02083.hp2 others(21): Show HG00639.hp1 HG00733.hp1 HG02083.hp2 HG02148.hp1 HG02717.hp1 HG02970.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18971.hp1 NA18983.hp2 NA18986.hp1 NA19011.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19072.hp1 NA20129.hp1 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0020 others(2): Show a0001c0001 a0001c0003 a0001c0020 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0001c0003t0007 a0001c0003t0014 a0001c0003t0015 a0001c0003t0025 a0001c0020t0001 a0002c0002t0002 a0004c0005t0001	a0001c0001t0001g0086 a0001c0001t0001g0105 a0001c0001t0001g0112 others(21): Show a0001c0001t0001g0086 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0197 a0001c0001t0002g0104 a0001c0001t0002g0119 a0001c0001t0022g0120 a0001c0003t0007g0229 a0001c0003t0007g0231 a0001c0003t0007g0233 a0001c0003t0007g0236 a0001c0003t0014g0221 a0001c0003t0015g0215 a0001c0003t0025g0232 a0001c0020t0001g0110 a0002c0002t0002g0253 a0004c0005t0001g0168	24	29	0.8276	-18	c.496 others(35): Show c.496-2276_496-2259delACACACACACACACACAC		TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	3/31						chr6	TogoVar
TBC1D3B_chr17_36160683_36181636	36167046	GGCCCGGG others(11): Show GGCCCGGGGTCCCGCCTGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG00733.hp1 others(57): Show HG00140.hp1 HG00642.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01255.hp1 HG01257.hp1 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp1 HG01943.hp2 HG02027.hp1 HG02080.hp1 HG02155.hp2 HG02486.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03688.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18949.hp1 NA18950.hp1 NA18955.hp2 NA18960.hp1 NA18964.hp1 NA18969.hp2 NA18978.hp1 NA18978.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp2 NA19066.hp2 NA19067.hp1 NA19074.hp2 NA19076.hp2 NA19079.hp1 NA19087.hp1 NA19088.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0002 a0005 a0008 others(8): Show a0002 a0005 a0008 a0011 a0014 a0016 a0017 a0023 a0026 a0032 a0034	a0002c0002 a0002c0019 a0005c0003 others(9): Show a0002c0002 a0002c0019 a0005c0003 a0008c0006 a0011c0050 a0014c0017 a0016c0021 a0017c0020 a0023c0023 a0026c0026 a0032c0045 a0034c0034	a0002c0002t0002 a0002c0019t0002 a0005c0003t0004 others(11): Show a0002c0002t0002 a0002c0019t0002 a0005c0003t0004 a0005c0003t0017 a0008c0006t0003 a0008c0006t0027 a0011c0050t0006 a0014c0017t0004 a0016c0021t0002 a0017c0020t0002 a0023c0023t0022 a0026c0026t0013 a0032c0045t0026 a0034c0034t0002	a0002c0002t0002g0002 a0002c0002t0002g0010 a0002c0002t0002g0011 others(32): Show a0002c0002t0002g0002 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0026 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0110 a0002c0019t0002g0025 a0005c0003t0004g0003 a0005c0003t0004g0107 a0005c0003t0004g0108 a0005c0003t0004g0112 a0005c0003t0017g0055 a0008c0006t0003g0012 a0008c0006t0003g0027 a0008c0006t0003g0116 a0008c0006t0003g0117 a0008c0006t0003g0119 a0008c0006t0027g0118 a0011c0050t0006g0033 a0014c0017t0004g0104 a0014c0017t0004g0105 a0014c0017t0004g0106 a0016c0021t0002g0024 a0017c0020t0002g0100 a0017c0020t0002g0102 a0023c0023t0022g0094 a0026c0026t0013g0093 a0032c0045t0026g0115 a0034c0034t0002g0109	60	198	0.3030	-18	c.108 others(35): Show c.1081+480_1082-484delACAGGCGGGACCCCGGGC		TBC1D3B	ENSG00000274808.6	transcript	ENST00000611257.5	protein_coding	13/13						chr17	TogoVar
TBC1D3C_chr17_38052693_38073634	38059060	GGCCCGGG others(11): Show GGCCCGGGGTCCCGCCTGT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp1 HG02809.hp1 others(8): Show HG02559.hp2 HG02572.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG03017.hp1 HG03139.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2	a0001 a0002 a0008 others(4): Show a0001 a0002 a0008 a0011 a0012 a0014 a0016	a0001c0001 a0002c0004 a0008c0012 others(4): Show a0001c0001 a0002c0004 a0008c0012 a0011c0028 a0012c0015 a0014c0013 a0016c0016	a0001c0001t0001 a0002c0004t0004 a0008c0012t0003 others(4): Show a0001c0001t0001 a0002c0004t0004 a0008c0012t0003 a0011c0028t0003 a0012c0015t0009 a0014c0013t0011 a0016c0016t0010	a0001c0001t0001g0061 a0002c0004t0004g0002 a0008c0012t0003g0034 others(5): Show a0001c0001t0001g0061 a0002c0004t0004g0002 a0008c0012t0003g0034 a0008c0012t0003g0048 a0011c0028t0003g0067 a0012c0015t0009g0070 a0014c0013t0011g0068 a0016c0016t0010g0051	11	84	0.1310	-18	c.108 others(35): Show c.1081+480_1082-485delACAGGCGGGACCCCGGGC		TBC1D3C	ENSG00000278299.6	transcript	ENST00000622206.2	protein_coding	13/13						chr17	TogoVar
TBC1D3C_chr17_38052693_38073634	38067956	GCCCAAGG others(11): Show GCCCAAGGGCAGCAGGCTC	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02886.hp2 HG06807.hp1 HG02572.hp2 HG02886.hp2 HG06807.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0004 a0004c0003t0001g0049 a0004c0003t0001g0004 a0004c0003t0001g0049	3	84	0.0357	-18	c.-2+ others(31): Show c.-2+522_-2+539delGAGCCTGCTGCCCTTGGG		TBC1D3C	ENSG00000278299.6	transcript	ENST00000622206.2	protein_coding	1/13						chr17	TogoVar
TBC1D3D_chr17_37998976_38019908	38004649	GGGGGAGC others(11): Show GGGGGAGCCTGCTGCCCTT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	66	0.0152	-18	c.-2+ others(31): Show c.-2+522_-2+539delGAGCCTGCTGCCCTTGGG		TBC1D3D	ENSG00000274419.7	transcript	ENST00000616101.5	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
TBC1D3E_chr17_38122951_38143868	38128584	GGGGGAGC others(11): Show GGGGGAGCCTGCTGCCCTT	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp2 HG02818.hp1 others(1): Show HG02717.hp1 HG02723.hp2 HG02818.hp1 HG03098.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0008 a0001c0002 a0004c0008	a0001c0002t0003 a0004c0008t0002 a0001c0002t0003 a0004c0008t0002	a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0003 others(1): Show a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0003 a0004c0008t0002g0010	4	32	0.1250	-18	c.-2+ others(31): Show c.-2+522_-2+539delGAGCCTGCTGCCCTTGGG		TBC1D3E	ENSG00000278599.6	transcript	ENST00000621587.2	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
TBC1D3E_chr17_38122951_38143868	38137478	AGGGCACA others(11): Show AGGGCACAGGCGGGACCCC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02895.hp2 HG02897.hp1 HG02145.hp2 HG02895.hp2 HG02897.hp1	a0001 a0004 a0001 a0004	a0001c0009 a0001c0010 a0004c0008 a0001c0009 a0001c0010 a0004c0008	a0001c0009t0001 a0001c0010t0001 a0004c0008t0001 a0001c0009t0001 a0001c0010t0001 a0004c0008t0001	a0001c0009t0001g0024 a0001c0010t0001g0029 a0004c0008t0001g0025 a0001c0009t0001g0024 a0001c0010t0001g0029 a0004c0008t0001g0025	3	32	0.0938	-18	c.108 others(35): Show c.1081+480_1082-485delACAGGCGGGACCCCGGGC		TBC1D3E	ENSG00000278599.6	transcript	ENST00000621587.2	protein_coding	13/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
TBC1D3H_chr17_36372531_36393435	36378898	GGCCCGGG others(11): Show GGCCCGGGGTCCCGCCTGT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00738.hp2 HG01884.hp1 others(37): Show HG00544.hp2 HG00738.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01952.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02129.hp1 HG02155.hp1 HG02258.hp1 HG02818.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03490.hp2 HG03516.hp1 HG03669.hp2 HG04115.hp2 HG06807.hp1 NA18941.hp2 NA18950.hp2 NA18954.hp1 NA18990.hp1 NA18995.hp2 NA18997.hp2 NA19003.hp1 NA19009.hp1 NA19009.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19089.hp1 NA19090.hp2	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0007 a0008 a0011 a0014 a0017 a0019	a0001c0001 a0003c0003 a0003c0023 others(10): Show a0001c0001 a0003c0003 a0003c0023 a0004c0004 a0004c0022 a0004c0032 a0007c0007 a0008c0013 a0011c0016 a0011c0017 a0014c0021 a0017c0025 a0019c0019	a0001c0001t0001 a0003c0003t0002 a0003c0023t0001 others(10): Show a0001c0001t0001 a0003c0003t0002 a0003c0023t0001 a0004c0004t0001 a0004c0022t0007 a0004c0032t0007 a0007c0007t0001 a0008c0013t0004 a0011c0016t0006 a0011c0017t0006 a0014c0021t0001 a0017c0025t0001 a0019c0019t0008	a0001c0001t0001g0044 a0001c0001t0001g0078 a0001c0001t0001g0088 others(23): Show a0001c0001t0001g0044 a0001c0001t0001g0078 a0001c0001t0001g0088 a0003c0003t0002g0001 a0003c0003t0002g0014 a0003c0003t0002g0080 a0003c0003t0002g0081 a0003c0003t0002g0083 a0003c0003t0002g0084 a0003c0003t0002g0106 a0003c0023t0001g0105 a0004c0004t0001g0015 a0004c0004t0001g0016 a0004c0004t0001g0017 a0004c0004t0001g0023 a0004c0022t0007g0066 a0004c0032t0007g0060 a0007c0007t0001g0006 a0007c0007t0001g0052 a0008c0013t0004g0036 a0008c0013t0004g0041 a0011c0016t0006g0073 a0011c0017t0006g0074 a0014c0021t0001g0067 a0017c0025t0001g0053 a0019c0019t0008g0096	40	156	0.2564	-18	c.108 others(35): Show c.1081+480_1082-485delACAGGCGGGACCCCGGGC		TBC1D3H	ENSG00000274226.6	transcript	ENST00000610350.4	protein_coding	13/13						chr17	TogoVar
TBC1D3I_chr17_36248639_36269570	36267010	GACTACAG others(11): Show GACTACAGGCACCTGCCAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0002 a0002c0025t0002	a0002c0025t0002g0107 a0002c0025t0002g0107	1	182	0.0055	-18	c.-26 others(29): Show c.-2615_-2598delATGGCAGGTGCCTGTAGT		TBC1D3I	ENSG00000274933.6	transcript	ENST00000621034.2	protein_coding					2441		chr17	TogoVar
TBC1D3K_chr17_37919415_37940371	37933981	AGGGCACA others(11): Show AGGGCACAGGCGGGACCCC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01081.hp1 HG01257.hp2 others(5): Show HG01070.hp1 HG01081.hp1 HG01257.hp2 HG01258.hp2 HG02055.hp1 HG02622.hp2 HG03225.hp2 HG03471.hp2	a0001 a0005 a0006 others(2): Show a0001 a0005 a0006 a0016 a0017	a0001c0002 a0005c0005 a0006c0034 others(2): Show a0001c0002 a0005c0005 a0006c0034 a0016c0020 a0017c0033	a0001c0002t0002 a0005c0005t0002 a0006c0034t0002 others(2): Show a0001c0002t0002 a0005c0005t0002 a0006c0034t0002 a0016c0020t0013 a0017c0033t0005	a0001c0002t0002g0065 a0005c0005t0002g0004 a0005c0005t0002g0027 others(3): Show a0001c0002t0002g0065 a0005c0005t0002g0004 a0005c0005t0002g0027 a0006c0034t0002g0004 a0016c0020t0013g0028 a0017c0033t0005g0039	8	112	0.0714	-18	c.108 others(35): Show c.1081+480_1082-485delACAGGCGGGACCCCGGGC		TBC1D3K	ENSG00000273513.2	transcript	ENST00000620247.2	protein_coding	13/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
TBC1D3L_chr17_37973155_37994060	37979522	GGCCCGGG others(11): Show GGCCCGGGGTCCCGCCTGT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp2 HG02809.hp1 others(3): Show HG02615.hp1 HG02615.hp2 HG02809.hp1 HG02809.hp2 HG03579.hp1 HG03579.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0001 a0001c0001t0003 a0004c0010t0009 a0001c0001t0001 a0001c0001t0003 a0004c0010t0009	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0003g0007 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0004c0010t0009g0011	6	16	0.3750	-18	c.108 others(35): Show c.1081+480_1082-485delACAGGCGGGACCCCGGGC		TBC1D3L	ENSG00000274512.6	transcript	ENST00000612727.5	protein_coding	12/12						chr17	TogoVar
TBC1D3_chr17_38176659_38197555	38183026	GGCCCGGG others(11): Show GGCCCGGGGTCCCGCCTGT	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01361.hp1 HG01361.hp2 others(6): Show HG01071.hp1 HG01361.hp1 HG01361.hp2 HG02451.hp2 HG02809.hp1 HG03017.hp2 HG03453.hp1 HG03579.hp2 HG04228.hp2	a0003 a0005 a0012 others(3): Show a0003 a0005 a0012 a0017 a0018 a0019	a0003c0005 a0003c0006 a0005c0004 others(4): Show a0003c0005 a0003c0006 a0005c0004 a0012c0031 a0017c0022 a0018c0024 a0019c0013	a0003c0005t0001 a0003c0006t0004 a0005c0004t0002 others(4): Show a0003c0005t0001 a0003c0006t0004 a0005c0004t0002 a0012c0031t0001 a0017c0022t0001 a0018c0024t0006 a0019c0013t0010	a0003c0005t0001g0003 a0003c0006t0004g0013 a0003c0006t0004g0014 others(5): Show a0003c0005t0001g0003 a0003c0006t0004g0013 a0003c0006t0004g0014 a0005c0004t0002g0045 a0012c0031t0001g0025 a0017c0022t0001g0022 a0018c0024t0006g0005 a0019c0013t0010g0024	9	72	0.1250	-18	c.108 others(35): Show c.1081+480_1082-485delACAGGCGGGACCCCGGGC		TBC1D3	ENSG00000274611.4	transcript	ENST00000620215.3	protein_coding	13/13						chr17	TogoVar
TBC1D3_chr17_38176659_38197555	38191919	GCCCAAGG others(11): Show GCCCAAGGGCAGCAGGCTC	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0025 a0025	a0025c0019 a0025c0019	a0025c0019t0008 a0025c0019t0008	a0025c0019t0008g0018 a0025c0019t0008g0018	1	72	0.0139	-18	c.-2+ others(31): Show c.-2+508_-2+525delGAGCCTGCTGCCCTTGGG		TBC1D3	ENSG00000274611.4	transcript	ENST00000620215.3	protein_coding	1/13						chr17	TogoVar
TBC1D4_chr13_75278503_75487169	75379887	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01496.hp1 HG02145.hp2 others(15): Show HG01361.hp2 HG01496.hp1 HG02145.hp2 HG02257.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02886.hp1 HG02895.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0013 a0018	a0001c0001 a0001c0003 a0002c0002 others(10): Show a0001c0001 a0001c0003 a0002c0002 a0002c0022 a0002c0023 a0002c0042 a0003c0006 a0003c0033 a0004c0009 a0004c0041 a0007c0052 a0013c0037 a0018c0051	a0001c0001t0009 a0001c0003t0009 a0002c0002t0005 others(15): Show a0001c0001t0009 a0001c0003t0009 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0040 a0002c0022t0006 a0002c0023t0004 a0002c0042t0004 a0003c0006t0003 a0003c0006t0009 a0003c0006t0018 a0003c0033t0002 a0004c0009t0008 a0004c0041t0001 a0007c0052t0008 a0013c0037t0013 a0018c0051t0013	a0001c0001t0009g0088 a0001c0003t0009g0175 a0002c0002t0005g0182 others(15): Show a0001c0001t0009g0088 a0001c0003t0009g0175 a0002c0002t0005g0182 a0002c0002t0006g0180 a0002c0002t0008g0211 a0002c0002t0040g0178 a0002c0022t0006g0089 a0002c0023t0004g0087 a0002c0042t0004g0118 a0003c0006t0003g0181 a0003c0006t0009g0179 a0003c0006t0018g0174 a0003c0033t0002g0063 a0004c0009t0008g0167 a0004c0041t0001g0119 a0007c0052t0008g0160 a0013c0037t0013g0086 a0018c0051t0013g0186	18	97	0.1856	-18	c.499 others(37): Show c.499-17298_499-17281delAAAAAAAAAAAAAAAAAA		TBC1D4	ENSG00000136111.14	transcript	ENST00000377636.8	protein_coding	1/20						chr13	TogoVar
TBC1D4_chr13_75278503_75487169	75391032	CCACACAC others(11): Show CCACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0123 a0001c0005t0002g0123	1	12	0.0833	-18	c.499 others(37): Show c.499-28443_499-28426delTGTGTGTGTGTGTGTGTG		TBC1D4	ENSG00000136111.14	transcript	ENST00000377636.8	protein_coding	1/20						chr13	TogoVar
TBC1D5_chr3_17152168_17747631	17285248	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(47): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG02056.hp1 HG02109.hp2 HG02257.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02897.hp2 HG02970.hp2 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03669.hp1 HG03834.hp1 NA18986.hp2 NA18999.hp1 NA19030.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0022 a0002c0002t0001 a0002c0002t0006 a0002c0002t0013 a0002c0002t0018 a0002c0002t0020	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 others(47): Show a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0133 a0001c0001t0002g0111 a0001c0001t0002g0117 a0001c0001t0002g0135 a0001c0001t0002g0149 a0001c0001t0003g0087 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0129 a0001c0001t0004g0138 a0001c0001t0006g0141 a0001c0001t0008g0131 a0001c0001t0011g0134 a0001c0001t0015g0088 a0001c0001t0022g0056 a0002c0002t0001g0086 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0001g0136 a0002c0002t0001g0151 a0002c0002t0006g0139 a0002c0002t0006g0140 a0002c0002t0013g0094 a0002c0002t0018g0104 a0002c0002t0020g0127	50	57	0.8772	-18	c.124 others(37): Show c.1245+6629_1245+6646delAAAAAAAAAAAAAAAAAA		TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	15/22						chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17380039	CTGTGTAT others(11): Show CTGTGTATGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp2 HG01433.hp1 others(18): Show HG00280.hp1 HG01109.hp2 HG01433.hp1 HG01891.hp1 HG01934.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02647.hp2 HG02717.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03195.hp1 HG03225.hp2 HG03540.hp2 HG04184.hp2 NA18522.hp1 NA18975.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0002c0002t0001 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0145 a0001c0001t0002g0010 a0001c0001t0002g0146 a0001c0001t0003g0017 a0001c0001t0003g0021 a0001c0001t0005g0003 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0008g0022 a0002c0002t0001g0154 a0003c0005t0001g0011	21	119	0.1765	-18	c.613 others(35): Show c.613-3444_613-3427delCACACACACACATACACA		TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	9/22						chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17434560	ACCTGAGG others(11): Show ACCTGAGGTCTTTATAATT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0088 a0001c0001t0015g0088	1	160	0.0063	-18	c.98- others(33): Show c.98-6059_98-6042delAATTATAAAGACCTCAGG		TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	3/22						chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17455430	GTATGTGT others(11): Show GTATGTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02165.hp2 HG03942.hp1 others(2): Show HG02132.hp2 HG02165.hp2 HG03942.hp1 HG04228.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011	a0001c0001t0002g0161 a0001c0001t0003g0158 a0001c0001t0010g0159 others(2): Show a0001c0001t0002g0161 a0001c0001t0003g0158 a0001c0001t0010g0159 a0001c0001t0010g0160 a0001c0001t0011g0162	5	160	0.0313	-18	c.98- others(35): Show c.98-26929_98-26912delTATATATACACACACATA		TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	3/22						chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17637188	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	99	0.0101	-18	c.-10 others(39): Show c.-100-13293_-100-13276delAAAAAAAAAAAAAAAAAA		TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	1/22						chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17723062	TCTAAAGA others(11): Show TCTAAAGAATGAATAAAAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02630.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0156 a0001c0001t0006g0157 a0001c0001t0001g0156 a0001c0001t0006g0157	2	160	0.0125	-18	c.-10 others(39): Show c.-101+19401_-101+19418delGTTTTATTCATTCTTTAG		TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	1/22						chr3	TogoVar
TBC1D9_chr4_140615782_140761385	140687343	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp2 NA21309.hp1 HG02559.hp1 HG02559.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0016 a0001c0001 a0001c0002 a0001c0016	a0001c0001t0001 a0001c0002t0003 a0001c0016t0012 a0001c0001t0001 a0001c0002t0003 a0001c0016t0012	a0001c0001t0001g0161 a0001c0002t0003g0290 a0001c0016t0012g0272 a0001c0001t0001g0161 a0001c0002t0003g0290 a0001c0016t0012g0272	3	122	0.0246	-18	c.242 others(33): Show c.242-899_242-882delATATATATATATATATAT		TBC1D9	ENSG00000109436.8	transcript	ENST00000442267.3	protein_coding	2/20						chr4	TogoVar
TBCD_chr17_82747065_82950914	82887160	TGTGTGTG others(11): Show TGTGTGTGTGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA21309.hp1 HG00423.hp2 NA21309.hp1	a0002 a0019 a0002 a0019	a0002c0025 a0019c0042 a0002c0025 a0019c0042	a0002c0025t0002 a0019c0042t0044 a0002c0025t0002 a0019c0042t0044	a0002c0025t0002g0131 a0019c0042t0044g0137 a0002c0025t0002g0131 a0019c0042t0044g0137	2	312	0.0064	-18	c.153 others(37): Show c.1534-2506_1534-2489delTGTGTGTGCGCGCGCGCG		TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	15/38					INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCE_chr1_235362427_235457443	235371038	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0035 a0001c0005t0035	a0001c0005t0035g0260 a0001c0005t0035g0260	1	31	0.0323	-18	c.-32 others(35): Show c.-32+3551_-32+3568delTTTTTTTTTTTTTTTTTT		TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235380161	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00621.hp2 others(60): Show HG00099.hp2 HG00544.hp2 HG00621.hp2 HG00733.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01891.hp2 HG01981.hp2 HG02027.hp2 HG02071.hp2 HG02109.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02523.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp2 HG02922.hp2 HG03017.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG04204.hp2 NA18944.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18962.hp2 NA18970.hp1 NA18982.hp2 NA18990.hp2 NA18994.hp1 NA18995.hp2 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp2 NA19057.hp2 NA19065.hp1 NA19074.hp2 NA19082.hp1 NA20300.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0020 a0001c0001t0028 a0001c0001t0030 a0001c0003t0001 a0001c0007t0001 a0003c0004t0037	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(60): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0171 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0003g0077 a0001c0001t0003g0081 a0001c0001t0003g0137 a0001c0001t0006g0002 a0001c0001t0006g0029 a0001c0001t0006g0054 a0001c0001t0006g0073 a0001c0001t0006g0085 a0001c0001t0006g0086 a0001c0001t0006g0099 a0001c0001t0007g0059 a0001c0001t0007g0142 a0001c0001t0020g0001 a0001c0001t0028g0071 a0001c0001t0030g0154 a0001c0003t0001g0051 a0001c0003t0001g0135 a0001c0007t0001g0060 a0003c0004t0037g0172	63	88	0.7159	-18	c.100 others(31): Show c.100+48_100+65delGTGTGTGTGTGTGTGTGT		TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
TBL1XR1_chr3_177014344_177202482	177112093	ATATATAT others(11): Show ATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02818.hp1 HG02896.hp1 others(2): Show HG01891.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0005 a0001c0001t0013	a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0005g0151 others(2): Show a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0005g0151 a0001c0001t0005g0153 a0001c0001t0013g0152	5	304	0.0164	-18	c.-12 others(39): Show c.-121-13570_-121-13553delAAAATATATATATATATA		TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15						chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177135333	GTATACAT others(11): Show GTATACATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0159 a0001c0001t0052g0159	1	129	0.0078	-18	c.-12 others(39): Show c.-121-36810_-121-36793delTATATATATATATGTATA		TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15						chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177198865	GACACACA others(11): Show GACACACACACACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18952.hp2 NA19068.hp1 NA18946.hp2 NA18952.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0009 a0001c0001t0002g0041 a0001c0001t0002g0042	3	51	0.0588	-18	c.-18 others(29): Show c.-1884_-1867delGTGTGTGTGTGTGTGTGT		TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding					1384		chr3	TogoVar
TBL1X_chrX_9460058_9724740	9492838	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02970.hp2 HG02809.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0023 a0001c0002t0016 a0001c0001t0023 a0001c0002t0016	a0001c0001t0023g0065 a0001c0002t0016g0186 a0001c0001t0023g0065 a0001c0002t0016g0186	2	46	0.0435	-18	c.-20 others(37): Show c.-200-8899_-200-8882delGTGTGTGTGTGTGTGTGT		TBL1X	ENSG00000101849.18	transcript	ENST00000645353.2	protein_coding	1/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
TBL1X_chrX_9460058_9724740	9531354	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0113 a0001c0002t0004g0113	1	60	0.0167	-18	c.-13 others(39): Show c.-131+29536_-131+29553delGTGTGTGTGTGTGTGTGT		TBL1X	ENSG00000101849.18	transcript	ENST00000645353.2	protein_coding	2/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
TBL1X_chrX_9460058_9724740	9665489	CTATATAT others(11): Show CTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	14	0.0714	-18	c.211 others(37): Show c.211+11200_211+11217delTATATATATATATATATA		TBL1X	ENSG00000101849.18	transcript	ENST00000645353.2	protein_coding	5/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
TBL2_chr7_73562537_73583579	73563067	CATATATA others(11): Show CATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0024	1	31	0.0323	-18	c.74 others(29): Show c.7422_*7439delATATATATATATATATAT		TBL2	ENSG00000106638.18	transcript	ENST00000305632.11	protein_coding					4469		chr7	TogoVar
TBPL1_chr6_133948224_133995432	133985297	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	204	0.0049	-18	c.481 others(33): Show c.481+650_481+667delTATATATATATATATATA		TBPL1	ENSG00000028839.10	transcript	ENST00000237264.9	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
TBP_chr6_170549369_170577859	170561940	GCAGCAGC others(11): Show GCAGCAGCAGCAACAGCAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp2 HG01496.hp2 HG03834.hp1 others(6): Show HG00639.hp2 HG01496.hp2 HG03834.hp1 NA18747.hp1 NA18952.hp2 NA18953.hp1 NA18970.hp1 NA19002.hp2 NA19081.hp2	a0001 a0001	a0001c0011 a0001c0017 a0001c0011 a0001c0017	a0001c0011t0001 a0001c0017t0001 a0001c0011t0001 a0001c0017t0001	a0001c0011t0001g0020 a0001c0011t0001g0115 a0001c0011t0001g0120 others(2): Show a0001c0011t0001g0020 a0001c0011t0001g0115 a0001c0011t0001g0120 a0001c0011t0001g0125 a0001c0017t0001g0056	9	382	0.0236	-18	c.216 others(25): Show c.216_233delACAGCAACAGCAGCAGCA	p.Gln others(11): Show p.Gln73_Gln78del	TBP	ENSG00000112592.15	transcript	ENST00000392092.7	protein_coding	3/8	459/1857	216/1020	72/339		INFO_REALIGN_3_PRIME	chr6	TogoVar
TBRG1_chr11_124617864_124640926	124628065	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02148.hp2 others(13): Show HG01069.hp1 HG01071.hp2 HG02148.hp2 HG02698.hp2 HG03669.hp1 HG03834.hp1 HG03834.hp2 HG04184.hp2 NA18940.hp1 NA18952.hp1 NA18959.hp2 NA18965.hp1 NA19054.hp1 NA19074.hp1 NA19083.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 a0001c0001t0001 a0001c0001t0005 a0001c0001t0014	a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0027 others(10): Show a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0110 a0001c0001t0001g0176 a0001c0001t0001g0191 a0001c0001t0001g0253 a0001c0001t0005g0015 a0001c0001t0005g0102 a0001c0001t0005g0109 a0001c0001t0005g0154 a0001c0001t0005g0299 a0001c0001t0014g0184	16	275	0.0582	-18	c.738 others(35): Show c.738+1050_738+1067delTATATATATATATATATA		TBRG1	ENSG00000154144.13	transcript	ENST00000441174.8	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
TBRG1_chr11_124617864_124640926	124628106	TATATATA others(11): Show TATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0168 a0001c0001t0003g0168	1	455	0.0022	-18	c.738 others(35): Show c.738+1058_738+1075delTATATATATACACACACA		TBRG1	ENSG00000154144.13	transcript	ENST00000441174.8	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
TBRG1_chr11_124617864_124640926	124628108	TATATATA others(11): Show TATATATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0043 a0001c0001t0008g0043	1	456	0.0022	-18	c.738 others(35): Show c.738+1060_738+1077delTATATATACACACACACA		TBRG1	ENSG00000154144.13	transcript	ENST00000441174.8	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
TBX19_chr1_168275877_168319426	168298823	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19060.hp1 NA19068.hp1 NA18952.hp1 NA19060.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	3	360	0.0083	-18	c.665 others(35): Show c.665+1040_665+1057delTTCTTTCTTTCTTTCTTT		TBX19	ENSG00000143178.13	transcript	ENST00000367821.8	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
TBX20_chr7_35197430_35259100	35208742	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02735.hp1 HG03491.hp2 HG02451.hp1 HG02735.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0176 a0001c0001t0002g0052 a0001c0002t0001g0223 a0001c0001t0001g0176 a0001c0001t0002g0052 a0001c0002t0001g0223	3	28	0.1071	-18	c.891 others(35): Show c.891-4178_891-4161delTTTTTTTTTTTTTTTTTT		TBX20	ENSG00000164532.11	transcript	ENST00000408931.4	protein_coding	6/7						chr7	TogoVar

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