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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TMBIM1_chr2_218269197_218297503	218297382	C C	CATCAGTA others(4): Show CATCAGTAATCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0001	1	354	0.0028	11	c.-49 others(22): Show c.-4958_-4957insCGATTACTGAT	TMBIM1	ENSG00000135926.15	transcript	ENST00000258412.8	protein_coding		4880		chr2	TogoVar
TMBIM6_chr12_49736557_49769934	49749435	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02723.hp1 HG03195.hp2 HG02647.hp2 HG02723.hp1 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0040 a0001c0002t0006g0179 a0001c0002t0002g0040 a0001c0002t0006g0179	3	258	0.0116	11	c.-30 others(28): Show c.-30-3024_-30-3023insTTTTTTTTTTT	TMBIM6	ENSG00000139644.13	transcript	ENST00000267115.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMBIM6_chr12_49736557_49769934	49749441	G G	GTTTTGTT others(4): Show GTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0058 a0001c0003t0008g0058	1	223	0.0045	11	c.-30 others(28): Show c.-30-3019_-30-3018insGTTTTTTTTTT	TMBIM6	ENSG00000139644.13	transcript	ENST00000267115.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMBIM6_chr12_49736557_49769934	49749441	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp2 HG01192.hp2 others(27): Show HG00639.hp1 HG01109.hp2 HG01192.hp2 HG01346.hp2 HG01361.hp2 HG01978.hp2 HG02015.hp2 HG02145.hp1 HG02257.hp2 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02717.hp2 HG02809.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03704.hp1 NA18522.hp2 NA18906.hp1 NA18951.hp1 NA18975.hp2 NA18981.hp2 NA20129.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0004 a0001c0002 a0001c0003 a0002c0004	a0001c0002t0002 a0001c0002t0009 a0001c0002t0012 others(5): Show a0001c0002t0002 a0001c0002t0009 a0001c0002t0012 a0001c0002t0016 a0001c0003t0008 a0001c0003t0015 a0002c0004t0002 a0002c0004t0012	a0001c0002t0002g0004 a0001c0002t0002g0037 a0001c0002t0002g0137 others(17): Show a0001c0002t0002g0004 a0001c0002t0002g0037 a0001c0002t0002g0137 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0009g0004 a0001c0002t0009g0038 a0001c0002t0009g0135 a0001c0002t0012g0155 a0001c0002t0012g0156 a0001c0002t0016g0138 a0001c0003t0008g0019 a0001c0003t0008g0020 a0001c0003t0008g0060 a0001c0003t0008g0061 a0001c0003t0015g0059 a0002c0004t0002g0021 a0002c0004t0002g0154 a0002c0004t0012g0063	30	252	0.1190	11	c.-30 others(28): Show c.-30-3014_-30-3013insTTTTTTTTTTT	TMBIM6	ENSG00000139644.13	transcript	ENST00000267115.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMBIM6_chr12_49736557_49769934	49765471	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG02080.hp1 HG02486.hp2 others(4): Show HG01167.hp2 HG02080.hp1 HG02486.hp2 HG02886.hp1 HG06807.hp1 HG06807.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0010 a0001c0002t0013 a0001c0002t0003 a0001c0002t0010 a0001c0002t0013	a0001c0002t0003g0016 a0001c0002t0010g0165 a0001c0002t0010g0172 others(4): Show a0001c0002t0003g0016 a0001c0002t0010g0165 a0001c0002t0010g0172 a0001c0002t0010g0176 a0001c0002t0010g0177 a0001c0002t0013g0178 a0001c0002t0013g0188	7	176	0.0398	11	c.25 others(22): Show c.2575_*2576insAAAAAAAAAAA	TMBIM6	ENSG00000139644.13	transcript	ENST00000267115.10	protein_coding		538		chr12	TogoVar
TMC1_chr9_72516608_72843297	72543953	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	172	0.0058	11	c.-42 others(32): Show c.-428+22042_-428+22043insCTTTCTTTCTT	TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr9	TogoVar
TMC1_chr9_72516608_72843297	72636707	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01099.hp2 others(15): Show HG00280.hp1 HG01070.hp1 HG01099.hp2 HG01346.hp1 HG02027.hp1 HG02055.hp1 HG02257.hp2 HG02486.hp1 HG02572.hp1 HG02698.hp1 HG02886.hp2 HG03098.hp1 HG03540.hp2 NA18747.hp2 NA18945.hp2 NA18946.hp1 NA18965.hp2 NA19056.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0004 a0001c0005 others(1): Show a0001c0003 a0001c0004 a0001c0005 a0003c0007	a0001c0003t0001 a0001c0003t0003 a0001c0003t0006 others(7): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0006 a0001c0003t0009 a0001c0003t0014 a0001c0003t0029 a0001c0004t0008 a0001c0004t0010 a0001c0005t0010 a0003c0007t0001	a0001c0003t0001g0005 a0001c0003t0001g0009 a0001c0003t0001g0014 others(15): Show a0001c0003t0001g0005 a0001c0003t0001g0009 a0001c0003t0001g0014 a0001c0003t0001g0072 a0001c0003t0003g0109 a0001c0003t0006g0101 a0001c0003t0006g0120 a0001c0003t0009g0018 a0001c0003t0014g0012 a0001c0003t0029g0140 a0001c0004t0008g0006 a0001c0004t0008g0010 a0001c0004t0008g0011 a0001c0004t0008g0015 a0001c0004t0010g0003 a0001c0004t0010g0116 a0001c0005t0010g0002 a0003c0007t0001g0076	18	90	0.2000	11	c.-53 others(28): Show c.-53+8651_-53+8661dupAAAAAAAAAAA	TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr9	TogoVar
TMC2_chr20_2531573_2648580	2588691	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	110	0.0091	11	c.835 others(28): Show c.835-3619_835-3618insGTGTGTGTGTG	TMC2	ENSG00000149488.14	transcript	ENST00000358864.2	protein_coding	7/19			chr20	TogoVar
TMC2_chr20_2531573_2648580	2589270	C C	CGTGTGTG others(4): Show CGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0075 a0004c0006t0001g0075	1	16	0.0625	11	c.835 others(28): Show c.835-3040_835-3039insGTGTGTGTGTG	TMC2	ENSG00000149488.14	transcript	ENST00000358864.2	protein_coding	7/19			chr20	TogoVar
TMC2_chr20_2531573_2648580	2594225	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA19089.hp1 HG02735.hp2 NA19089.hp1	a0001 a0026 a0001 a0026	a0001c0010 a0026c0026 a0001c0010 a0026c0026	a0001c0010t0002 a0026c0026t0003 a0001c0010t0002 a0026c0026t0003	a0001c0010t0002g0213 a0026c0026t0003g0238 a0001c0010t0002g0213 a0026c0026t0003g0238	2	251	0.0080	11	c.934 others(26): Show c.934-590_934-580dupTTTTTTTTTTT	TMC2	ENSG00000149488.14	transcript	ENST00000358864.2	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr20	TogoVar
TMC2_chr20_2531573_2648580	2636459	T T	TACCACAC others(4): Show TACCACACACAC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0252 a0004c0006t0001g0252	1	37	0.0270	11	c.238 others(28): Show c.2385+457_2385+458insCACACACACAC	TMC2	ENSG00000149488.14	transcript	ENST00000358864.2	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr20	TogoVar
TMC4_chr19_54155108_54178160	54167198	G G	GGCTTCCG others(4): Show GGCTTCCGGTGA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	406	0.0025	11	c.797 others(26): Show c.797+962_797+972dupTCACCGGAAGC	TMC4	ENSG00000167608.12	transcript	ENST00000619895.5	protein_coding	5/14			chr19	TogoVar
TMC5_chr16_19412883_19504113	19434182	G G	GTATATAT others(4): Show GTATATATATCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp2 HG00639.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0271 a0001c0001t0001g0246 a0001c0001t0001g0271	2	334	0.0060	11	c.-80 others(28): Show c.-80+3542_-80+3543insTATATATATCT	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	2/21			chr16	TogoVar
TMC5_chr16_19412883_19504113	19436273	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(124): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01099.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01943.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02135.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp2 HG02738.hp1 HG02818.hp1 HG03017.hp1 HG03239.hp2 HG03486.hp2 HG03654.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp2 NA18986.hp2 NA18989.hp2 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0013	a0001c0001 a0002c0002 a0008c0018 others(1): Show a0001c0001 a0002c0002 a0008c0018 a0013c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0017 a0001c0001t0019 a0001c0001t0025 a0001c0001t0029 a0002c0002t0001 a0008c0018t0001 a0013c0016t0002	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 others(124): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0110 a0001c0001t0001g0130 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0209 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0002g0007 a0001c0001t0002g0065 a0001c0001t0002g0077 a0001c0001t0002g0127 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0177 a0001c0001t0002g0197 a0001c0001t0002g0201 a0001c0001t0002g0210 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0244 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0259 a0001c0001t0002g0279 a0001c0001t0002g0285 a0001c0001t0002g0296 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0328 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0003g0129 a0001c0001t0003g0168 a0001c0001t0003g0183 a0001c0001t0003g0202 a0001c0001t0003g0225 a0001c0001t0003g0232 a0001c0001t0003g0252 a0001c0001t0003g0277 a0001c0001t0004g0236 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0263 a0001c0001t0005g0128 a0001c0001t0005g0178 a0001c0001t0005g0179 a0001c0001t0005g0180 a0001c0001t0005g0181 a0001c0001t0005g0182 a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0005g0191 a0001c0001t0005g0196 a0001c0001t0005g0203 a0001c0001t0005g0237 a0001c0001t0005g0241 a0001c0001t0005g0247 a0001c0001t0005g0286 a0001c0001t0007g0222 a0001c0001t0012g0186 a0001c0001t0012g0206 a0001c0001t0017g0123 a0001c0001t0019g0157 a0001c0001t0025g0224 a0001c0001t0029g0185 a0002c0002t0001g0189 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0248 a0008c0018t0001g0269 a0013c0016t0002g0321	127	181	0.7017	11	c.-79 others(28): Show c.-79-3686_-79-3676dupAAAAAAAAAAA	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMC5_chr16_19412883_19504113	19436273	G G	GAAAAAAG others(4): Show GAAAAAAGAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	55	0.0182	11	c.-79 others(28): Show c.-79-3681_-79-3680insGAAAAAAAAAA	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMC5_chr16_19412883_19504113	19465056	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0116 a0001c0001t0003g0116	1	326	0.0031	11	c.148 others(30): Show c.1486-1024_1486-1023insCTTTCTTTCTT	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMC5_chr16_19412883_19504113	19490762	C C	CCTTCCTT others(4): Show CCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0088 a0001c0001t0027g0088	1	333	0.0030	11	c.274 others(28): Show c.2747+195_2747+196insTTCCTTCCTTC	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMC5_chr16_19412883_19504113	19493466	T T	TCTCTCTC others(4): Show TCTCTCTCTTTC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02559.hp1 HG03017.hp2 others(2): Show HG01993.hp2 HG02559.hp1 HG03017.hp2 HG03225.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0100 a0001c0001t0001g0117 a0001c0001t0001g0140 others(2): Show a0001c0001t0001g0100 a0001c0001t0001g0117 a0001c0001t0001g0140 a0002c0002t0001g0302 a0002c0002t0001g0303	5	201	0.0249	11	c.282 others(28): Show c.2827-796_2827-795insCTCTCTCTTTC	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	19/21			chr16	TogoVar
TMC5_chr16_19412883_19504113	19495011	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0114 a0001c0001t0013g0114	1	219	0.0046	11	c.293 others(28): Show c.2931+656_2931+666dupTTTTTTTTTTT	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMC7_chr16_18978934_19068942	19064374	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0146 a0002c0003t0004g0146	1	277	0.0036	11	c.25 others(22): Show c.2531_*2532insGTGTGTGTGTG	TMC7	ENSG00000170537.13	transcript	ENST00000304381.10	protein_coding		433		chr16	TogoVar
TMCC1_chr3_129642792_129898711	129709497	A A	AAAAAGAG others(4): Show AAAAAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03098.hp2 HG03540.hp1 HG02717.hp2 HG03098.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0154 a0001c0001t0008g0155 a0001c0001t0008g0254 a0001c0001t0008g0154 a0001c0001t0008g0155 a0001c0001t0008g0254	3	11	0.2727	11	c.577 others(30): Show c.577-38234_577-38233insCTCTCTCTTTT	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6			chr3	TogoVar
TMCC1_chr3_129642792_129898711	129720181	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03225.hp2 HG03209.hp2 HG03225.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0018 a0002c0003t0012 a0002c0003t0018	a0002c0003t0012g0034 a0002c0003t0018g0004 a0002c0003t0012g0034 a0002c0003t0018g0004	2	217	0.0092	11	c.577 others(30): Show c.577-48928_577-48918dupTTTTTTTTTTT	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6			chr3	TogoVar
TMCC1_chr3_129642792_129898711	129726868	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02559.hp2 HG02970.hp2 others(3): Show HG01346.hp2 HG02559.hp2 HG02970.hp2 HG03209.hp1 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0025	a0001c0001t0001g0040 a0001c0001t0004g0188 a0001c0001t0013g0192 others(3): Show a0001c0001t0001g0040 a0001c0001t0004g0188 a0001c0001t0013g0192 a0001c0001t0013g0194 a0001c0001t0013g0204 a0001c0001t0025g0195	6	39	0.1538	11	c.577 others(30): Show c.577-55615_577-55605dupTTTTTTTTTTT	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6			chr3	TogoVar
TMCC1_chr3_129642792_129898711	129760495	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	253	0.0040	11	c.576 others(30): Show c.576+67307_576+67308insCACACACACAC	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6			chr3	TogoVar
TMCC3_chr12_94562122_94655557	94563299	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0262 a0001c0001t0004g0262	1	215	0.0047	11	c.81 others(22): Show c.8135_*8136insTTTTTTTTTTT	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding		3822		chr12	TogoVar
TMCC3_chr12_94562122_94655557	94578165	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02055.hp2 HG03098.hp2 others(2): Show HG01516.hp1 HG02055.hp2 HG03098.hp2 HG04184.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 a0001c0002 a0001c0004 a0001c0005	a0001c0002t0006 a0001c0002t0048 a0001c0004t0004 others(1): Show a0001c0002t0006 a0001c0002t0048 a0001c0004t0004 a0001c0005t0046	a0001c0002t0006g0055 a0001c0002t0006g0228 a0001c0002t0048g0133 others(2): Show a0001c0002t0006g0055 a0001c0002t0006g0228 a0001c0002t0048g0133 a0001c0004t0004g0344 a0001c0005t0046g0009	5	284	0.0176	11	c.113 others(28): Show c.1131+228_1131+229insCTTTTTTTTTT	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding	3/3			chr12	TogoVar
TMCC3_chr12_94562122_94655557	94590260	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp2 HG02723.hp2 others(1): Show HG02109.hp1 HG02572.hp2 HG02723.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0010 a0001c0004t0010 a0001c0001t0010 a0001c0004t0010	a0001c0001t0010g0032 a0001c0004t0010g0026 a0001c0004t0010g0082 others(1): Show a0001c0001t0010g0032 a0001c0004t0010g0026 a0001c0004t0010g0082 a0001c0004t0010g0202	4	83	0.0482	11	c.79- others(26): Show c.79-7733_79-7723dupAAAAAAAAAAA	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding	1/3			chr12	TogoVar
TMCC3_chr12_94562122_94655557	94591901	A A	AGCATCCT others(4): Show AGCATCCTTGCT	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0325 a0001c0001t0026g0325	1	376	0.0027	11	c.79- others(26): Show c.79-9374_79-9364dupAGCAAGGATGC	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding	1/3			chr12	TogoVar
TMCC3_chr12_94562122_94655557	94592661	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03516.hp1 HG02572.hp2 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0011 a0001c0004t0010 a0001c0004t0011	a0001c0004t0010g0202 a0001c0004t0011g0320 a0001c0004t0010g0202 a0001c0004t0011g0320	2	106	0.0189	11	c.79- others(28): Show c.79-10134_79-10124dupTTTTTTTTTTT	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding	1/3			chr12	TogoVar
TMCC3_chr12_94562122_94655557	94652799	G G	GTGTGTGT others(4): Show GTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0054 a0001c0002t0054	a0001c0002t0054g0011 a0001c0002t0054g0011	1	188	0.0053	11	c.-23 others(22): Show c.-2370_-2369insACACACACACA	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding		2243		chr12	TogoVar
TMCC3_chr12_94562122_94655557	94652835	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0028 a0002c0012t0028	a0002c0012t0028g0371 a0002c0012t0028g0371	1	376	0.0027	11	c.-24 others(22): Show c.-2406_-2405insCACACACACAC	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding		2279		chr12	TogoVar
TMCO1_chr1_165721795_165773868	165722914	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	21	0.0476	11	c.51 others(22): Show c.5108_*5109insTTTTTTTTTTT	TMCO1	ENSG00000143183.18	transcript	ENST00000367881.11	protein_coding		3880		chr1	TogoVar
TMCO2_chr1_40242937_40256684	40246796	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG03710.hp1 HG01109.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0003 a0001c0001t0001g0035	2	47	0.0426	11	c.-11 others(22): Show c.-1198_-1197insAAAAAAAAAAA	TMCO2	ENSG00000188800.6	transcript	ENST00000372766.4	protein_coding		1140		chr1	TogoVar
TMCO3_chr13_113486021_113555229	113543458	T T	TCCTCCCC others(4): Show TCCTCCCCCTGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp1 HG01256.hp2 others(3): Show HG00099.hp1 HG01069.hp1 HG01256.hp2 HG01258.hp2 HG02486.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0006 a0001c0001t0001g0160 a0001c0001t0001g0162	6	361	0.0166	11	c.169 others(30): Show c.1691-3839_1691-3829dupTCCCCCTGCCC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMCO3_chr13_113486021_113555229	113543465	C C	CCCGCCCT others(4): Show CCCGCCCTCCCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02293.hp2 HG00280.hp1 HG02293.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0235 a0001c0006t0001g0236 a0001c0006t0001g0235 a0001c0006t0001g0236	2	358	0.0056	11	c.169 others(30): Show c.1691-3834_1691-3833insCGCCCTCCCTC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMCO3_chr13_113486021_113555229	113543469	C C	CCCTCCCT others(4): Show CCCTCCCTCTGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00621.hp1 others(11): Show HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00673.hp1 HG02080.hp1 HG02559.hp1 HG03486.hp1 NA18747.hp1 NA18943.hp1 NA18944.hp1 NA18968.hp2 NA18974.hp2 NA19064.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0004 a0001c0006 a0002c0004	a0001c0006t0001 a0002c0004t0004 a0001c0006t0001 a0002c0004t0004	a0001c0006t0001g0027 a0001c0006t0001g0217 a0001c0006t0001g0218 others(9): Show a0001c0006t0001g0027 a0001c0006t0001g0217 a0001c0006t0001g0218 a0001c0006t0001g0221 a0001c0006t0001g0222 a0001c0006t0001g0223 a0001c0006t0001g0224 a0001c0006t0001g0225 a0001c0006t0001g0226 a0001c0006t0001g0228 a0001c0006t0001g0234 a0002c0004t0004g0017	14	351	0.0399	11	c.169 others(30): Show c.1691-3829_1691-3828insTCCCTCTGTCC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMCO4_chr1_19677240_19804916	19718650	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00558.hp2 others(98): Show HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG04199.hp2 HG06807.hp1 NA18943.hp1 NA18945.hp1 NA18950.hp1 NA18950.hp2 NA18960.hp1 NA18972.hp2 NA18983.hp2 NA18993.hp2 NA19005.hp1 NA19011.hp1 NA19030.hp2 NA19058.hp2 NA19060.hp2 NA19081.hp2 NA19084.hp1 NA19088.hp1 NA20752.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0014 a0018	a0001c0002 a0001c0003 a0001c0006 others(19): Show a0001c0002 a0001c0003 a0001c0006 a0002c0001 a0002c0040 a0003c0004 a0003c0007 a0003c0008 a0003c0011 a0003c0014 a0003c0015 a0004c0005 a0004c0009 a0004c0018 a0005c0010 a0006c0012 a0006c0016 a0007c0022 a0008c0019 a0009c0013 a0014c0023 a0018c0039	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(29): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0003t0001 a0001c0006t0001 a0001c0006t0002 a0002c0001t0001 a0002c0001t0002 a0002c0001t0009 a0002c0040t0002 a0003c0004t0001 a0003c0004t0002 a0003c0004t0004 a0003c0007t0001 a0003c0008t0002 a0003c0011t0005 a0003c0014t0002 a0003c0015t0002 a0004c0005t0001 a0004c0005t0002 a0004c0009t0001 a0004c0009t0002 a0004c0018t0014 a0005c0010t0002 a0006c0012t0003 a0006c0016t0003 a0007c0022t0005 a0008c0019t0003 a0009c0013t0001 a0014c0023t0003 a0018c0039t0002	a0001c0002t0001g0170 a0001c0002t0002g0090 a0001c0002t0002g0188 others(98): Show a0001c0002t0001g0170 a0001c0002t0002g0090 a0001c0002t0002g0188 a0001c0002t0002g0253 a0001c0002t0003g0155 a0001c0002t0006g0006 a0001c0003t0001g0079 a0001c0003t0001g0081 a0001c0003t0001g0088 a0001c0003t0001g0097 a0001c0003t0001g0131 a0001c0003t0001g0143 a0001c0003t0001g0148 a0001c0003t0001g0195 a0001c0003t0001g0231 a0001c0003t0001g0256 a0001c0003t0001g0260 a0001c0003t0001g0274 a0001c0006t0001g0053 a0001c0006t0002g0101 a0001c0006t0002g0114 a0001c0006t0002g0132 a0001c0006t0002g0178 a0001c0006t0002g0183 a0001c0006t0002g0229 a0001c0006t0002g0232 a0002c0001t0001g0035 a0002c0001t0001g0036 a0002c0001t0001g0086 a0002c0001t0001g0091 a0002c0001t0001g0092 a0002c0001t0001g0121 a0002c0001t0001g0122 a0002c0001t0001g0125 a0002c0001t0001g0128 a0002c0001t0001g0134 a0002c0001t0001g0142 a0002c0001t0001g0144 a0002c0001t0001g0174 a0002c0001t0001g0187 a0002c0001t0001g0189 a0002c0001t0001g0218 a0002c0001t0001g0226 a0002c0001t0001g0227 a0002c0001t0001g0255 a0002c0001t0001g0276 a0002c0001t0001g0278 a0002c0001t0001g0307 a0002c0001t0002g0069 a0002c0001t0002g0070 a0002c0001t0002g0071 a0002c0001t0002g0141 a0002c0001t0002g0150 a0002c0001t0002g0196 a0002c0001t0002g0200 a0002c0001t0002g0266 a0002c0001t0002g0268 a0002c0001t0002g0299 a0002c0001t0009g0120 a0002c0040t0002g0103 a0003c0004t0001g0015 a0003c0004t0001g0039 a0003c0004t0001g0044 a0003c0004t0001g0056 a0003c0004t0001g0275 a0003c0004t0002g0049 a0003c0004t0002g0052 a0003c0004t0002g0109 a0003c0004t0002g0243 a0003c0004t0002g0246 a0003c0004t0002g0251 a0003c0004t0004g0002 a0003c0007t0001g0100 a0003c0007t0001g0217 a0003c0007t0001g0287 a0003c0008t0002g0104 a0003c0008t0002g0258 a0003c0011t0005g0004 a0003c0014t0002g0208 a0003c0015t0002g0163 a0004c0005t0001g0017 a0004c0005t0001g0023 a0004c0005t0001g0167 a0004c0005t0001g0169 a0004c0005t0001g0224 a0004c0005t0002g0296 a0004c0009t0001g0037 a0004c0009t0001g0116 a0004c0009t0001g0117 a0004c0009t0001g0118 a0004c0009t0002g0026 a0004c0018t0014g0237 a0005c0010t0002g0180 a0006c0012t0003g0171 a0006c0012t0003g0222 a0006c0016t0003g0279 a0007c0022t0005g0003 a0008c0019t0003g0301 a0009c0013t0001g0184 a0014c0023t0003g0024 a0018c0039t0002g0306	101	147	0.6871	11	c.126 others(32): Show c.1265-17776_1265-17766dupTTTTTTTTTTT	TMCO4	ENSG00000162542.14	transcript	ENST00000294543.11	protein_coding	13/15			chr1	TogoVar
TMCO4_chr1_19677240_19804916	19718665	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03041.hp1 HG02976.hp2 HG03041.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0001c0002 a0003c0007	a0001c0002t0001 a0003c0007t0001 a0001c0002t0001 a0003c0007t0001	a0001c0002t0001g0115 a0003c0007t0001g0225 a0001c0002t0001g0115 a0003c0007t0001g0225	2	292	0.0068	11	c.126 others(32): Show c.1265-17781_1265-17780insCTTTTTTTTTT	TMCO4	ENSG00000162542.14	transcript	ENST00000294543.11	protein_coding	13/15			chr1	TogoVar
TMCO4_chr1_19677240_19804916	19802924	T T	TATATATA others(4): Show TATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0085 a0003c0008t0001g0085	1	310	0.0032	11	c.-32 others(22): Show c.-3250_-3249insTATATATATAT	TMCO4	ENSG00000162542.14	transcript	ENST00000294543.11	protein_coding		3009		chr1	TogoVar
TMED10_chr14_75126469_75181612	75147185	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01884.hp2 HG02572.hp1 others(1): Show HG00639.hp1 HG01884.hp2 HG02572.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0013 a0001c0001t0005g0043 a0001c0001t0005g0044 others(1): Show a0001c0001t0004g0013 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0175	4	10	0.4000	11	c.411 others(26): Show c.411+468_411+478dupAAAAAAAAAAA	TMED10	ENSG00000170348.9	transcript	ENST00000303575.9	protein_coding	3/4			chr14	TogoVar
TMED10_chr14_75126469_75181612	75154401	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00673.hp1 HG01884.hp1 others(6): Show HG00423.hp2 HG00673.hp1 HG01884.hp1 HG02572.hp2 HG02622.hp2 HG03831.hp1 NA18952.hp1 NA18960.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0002t0003	a0001c0001t0002g0203 a0001c0001t0002g0218 a0001c0001t0002g0219 others(6): Show a0001c0001t0002g0203 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0003g0124 a0001c0001t0003g0167 a0001c0001t0004g0197 a0001c0002t0002g0217 a0001c0002t0003g0198 a0001c0002t0003g0211	9	15	0.6000	11	c.226 others(28): Show c.226-2269_226-2259dupTTTTTTTTTTT	TMED10	ENSG00000170348.9	transcript	ENST00000303575.9	protein_coding	1/4			chr14	TogoVar
TMED3_chr15_79306112_79327840	79310999	C C	CGGGGGGG others(4): Show CGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00741.hp2 HG01081.hp2 others(34): Show HG00733.hp1 HG00741.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01516.hp1 HG02080.hp1 HG02523.hp1 HG02735.hp2 HG02738.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03516.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp2 NA18944.hp2 NA18961.hp1 NA18964.hp1 NA18966.hp1 NA18971.hp1 NA18977.hp2 NA18997.hp1 NA19005.hp1 NA19075.hp1 NA19086.hp1 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0076 a0001c0001t0005g0021 a0001c0001t0005g0028	37	64	0.5781	11	c.-25 others(20): Show c.-251_-250insGGGGGGGGGGG	TMED3	ENSG00000166557.14	transcript	ENST00000299705.10	protein_coding		112		chr15	TogoVar
TMED5_chr1_93144742_93185413	93169919	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	339	0.0029	11	c.190 others(28): Show c.190-9694_190-9693insGTGTGTGTGTG	TMED5	ENSG00000117500.13	transcript	ENST00000370282.8	protein_coding	1/3			chr1	TogoVar
TMED8_chr14_77330029_77382094	77372953	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0248 a0001c0001t0006g0248	1	310	0.0032	11	c.118 others(28): Show c.118+3982_118+3983insTATATATATAT	TMED8	ENSG00000100580.8	transcript	ENST00000216468.8	protein_coding	1/5			chr14	TogoVar
TMEFF2_chr2_191944046_192199933	191953883	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01952.hp2 HG01261.hp1 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0128 a0001c0001t0001g0119 a0001c0001t0001g0128	2	80	0.0250	11	c.870 others(24): Show c.870-57_870-47dupAAAAAAAAAAA	TMEFF2	ENSG00000144339.12	transcript	ENST00000272771.10	protein_coding	8/9			chr2	TogoVar
TMEFF2_chr2_191944046_192199933	191955524	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG00621.hp1 others(46): Show HG00280.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG01071.hp2 HG01109.hp2 HG01192.hp2 HG01255.hp1 HG01261.hp2 HG01433.hp1 HG01516.hp1 HG01884.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG02148.hp2 HG02155.hp2 HG02273.hp2 HG02280.hp2 HG02486.hp2 HG02723.hp2 HG02818.hp2 HG02897.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG06807.hp1 HG06807.hp2 NA18949.hp1 NA18959.hp1 NA18962.hp1 NA18970.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18992.hp2 NA19030.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0003t0010 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0019 others(46): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0005g0157 a0001c0001t0005g0158 a0001c0001t0006g0049 a0001c0001t0006g0110 a0001c0001t0007g0001 a0001c0001t0011g0137 a0001c0003t0010g0022 a0002c0002t0001g0071	49	76	0.6447	11	c.869 others(26): Show c.869+720_869+730dupAAAAAAAAAAA	TMEFF2	ENSG00000144339.12	transcript	ENST00000272771.10	protein_coding	8/9			chr2	TogoVar
TMEFF2_chr2_191944046_192199933	192037269	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	137	0.0073	11	c.536 others(30): Show c.536+20409_536+20410insCTTTCTTTCTT	TMEFF2	ENSG00000144339.12	transcript	ENST00000272771.10	protein_coding	5/9			chr2	TogoVar
TMEFF2_chr2_191944046_192199933	192037273	T T	TAAGAAAG others(4): Show TAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	27	0.0370	11	c.536 others(30): Show c.536+20405_536+20406insCTTTCTTTCTT	TMEFF2	ENSG00000144339.12	transcript	ENST00000272771.10	protein_coding	5/9			chr2	TogoVar
TMEFF2_chr2_191944046_192199933	192037334	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03209.hp1 HG01192.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0076 a0001c0001t0001g0048 a0001c0001t0001g0076	2	160	0.0125	11	c.536 others(30): Show c.536+20344_536+20345insCTTTCTTTCTT	TMEFF2	ENSG00000144339.12	transcript	ENST00000272771.10	protein_coding	5/9			chr2	TogoVar
TMEFF2_chr2_191944046_192199933	192189555	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02451.hp1 HG02451.hp2 HG01433.hp1 HG02451.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0002g0018 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0002g0018	3	8	0.3750	11	c.282 others(28): Show c.282+2314_282+2324dupTTTTTTTTTTT	TMEFF2	ENSG00000144339.12	transcript	ENST00000272771.10	protein_coding	2/9			chr2	TogoVar

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