Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
TMC2_chr20_2531573_2648580	2545822	GAAGAAAG others(5): Show GAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02976.hp2 HG02886.hp2 HG02976.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0004 a0003c0007t0014 a0003c0007t0004 a0003c0007t0014	a0003c0007t0004g0172 a0003c0007t0014g0031 a0003c0007t0004g0172 a0003c0007t0014g0031	2	344	0.0058	-12	c.82+ others(27): Show c.82+8527_82+8538delAAGAAAGAAAGA	TMC2	ENSG00000149488.14	transcript	ENST00000358864.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr20	TogoVar
TMC2_chr20_2531573_2648580	2579384	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02559.hp1 others(5): Show HG02257.hp2 HG02280.hp1 HG02559.hp1 HG02622.hp1 HG02717.hp2 HG02895.hp1 HG03139.hp2 HG03486.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0003c0007 a0003c0011 others(3): Show a0001c0001 a0003c0007 a0003c0011 a0003c0014 a0003c0022 a0010c0021	a0001c0001t0006 a0003c0007t0006 a0003c0011t0001 others(3): Show a0001c0001t0006 a0003c0007t0006 a0003c0011t0001 a0003c0014t0002 a0003c0022t0001 a0010c0021t0002	a0001c0001t0006g0055 a0001c0001t0006g0083 a0003c0007t0006g0056 others(5): Show a0001c0001t0006g0055 a0001c0001t0006g0083 a0003c0007t0006g0056 a0003c0011t0001g0289 a0003c0014t0002g0089 a0003c0022t0001g0062 a0010c0021t0002g0287 a0010c0021t0002g0288	8	344	0.0233	-12	c.727 others(27): Show c.727+189_727+200delATTTATTTATTT	TMC2	ENSG00000149488.14	transcript	ENST00000358864.2	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr20	TogoVar
TMC2_chr20_2531573_2648580	2608300	TTTATTAT others(5): Show TTTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03098.hp2 HG03139.hp1 others(4): Show HG01884.hp1 HG03098.hp2 HG03139.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp2	a0001 a0012 a0014 others(1): Show a0001 a0012 a0014 a0026	a0001c0010 a0001c0013 a0012c0020 others(2): Show a0001c0010 a0001c0013 a0012c0020 a0014c0046 a0026c0045	a0001c0010t0002 a0001c0010t0008 a0001c0013t0004 others(3): Show a0001c0010t0002 a0001c0010t0008 a0001c0013t0004 a0012c0020t0002 a0014c0046t0004 a0026c0045t0002	a0001c0010t0002g0171 a0001c0010t0008g0042 a0001c0013t0004g0063 others(4): Show a0001c0010t0002g0171 a0001c0010t0008g0042 a0001c0013t0004g0063 a0012c0020t0002g0034 a0012c0020t0002g0035 a0014c0046t0004g0074 a0026c0045t0002g0047	7	344	0.0204	-12	c.141 others(31): Show c.1414-2086_1414-2075delATTATTATTATT	TMC2	ENSG00000149488.14	transcript	ENST00000358864.2	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr20	TogoVar
TMC2_chr20_2531573_2648580	2611882	GTGGGTGG others(5): Show GTGGGTGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03195.hp1 HG00735.hp2 HG03195.hp1	a0007 a0007	a0007c0028 a0007c0030 a0007c0028 a0007c0030	a0007c0028t0004 a0007c0030t0012 a0007c0028t0004 a0007c0030t0012	a0007c0028t0004g0162 a0007c0030t0012g0156 a0007c0028t0004g0162 a0007c0030t0012g0156	2	344	0.0058	-12	c.159 others(29): Show c.1594-305_1594-294delGTGGATGGATGG	TMC2	ENSG00000149488.14	transcript	ENST00000358864.2	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr20	TogoVar
TMC2_chr20_2531573_2648580	2611886	GTGGATGG others(5): Show GTGGATGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01167.hp2 HG00639.hp1 HG01167.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0075 a0002c0002t0001g0020 a0002c0002t0001g0075	2	344	0.0058	-12	c.159 others(29): Show c.1594-274_1594-263delGATGGATGGATG	TMC2	ENSG00000149488.14	transcript	ENST00000358864.2	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr20	TogoVar
TMC2_chr20_2531573_2648580	2647773	CCTCCAAA others(5): Show CCTCCAAATTAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG00735.hp2 others(74): Show HG00099.hp2 HG00642.hp1 HG00735.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01884.hp1 HG02004.hp1 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp2 NA19043.hp1 NA19063.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0011 a0012 a0014 a0015 a0016 a0018 a0019 a0020 a0022 a0026	a0001c0001 a0001c0003 a0001c0010 others(28): Show a0001c0001 a0001c0003 a0001c0010 a0001c0013 a0001c0018 a0001c0042 a0002c0002 a0002c0008 a0002c0017 a0002c0023 a0002c0051 a0003c0007 a0003c0014 a0003c0015 a0003c0022 a0003c0055 a0004c0006 a0007c0028 a0008c0016 a0009c0025 a0009c0054 a0011c0044 a0012c0020 a0014c0046 a0015c0034 a0016c0053 a0018c0031 a0019c0037 a0020c0035 a0022c0047 a0026c0045	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(43): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0020 a0001c0003t0005 a0001c0003t0007 a0001c0010t0008 a0001c0010t0029 a0001c0013t0004 a0001c0018t0007 a0001c0042t0005 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0010 a0002c0002t0021 a0002c0008t0005 a0002c0008t0018 a0002c0008t0027 a0002c0017t0005 a0002c0023t0004 a0002c0051t0008 a0003c0007t0004 a0003c0007t0006 a0003c0014t0002 a0003c0015t0008 a0003c0022t0004 a0003c0055t0019 a0004c0006t0004 a0007c0028t0004 a0008c0016t0002 a0008c0016t0026 a0009c0025t0007 a0009c0054t0008 a0011c0044t0004 a0012c0020t0002 a0014c0046t0004 a0015c0034t0006 a0016c0053t0002 a0018c0031t0004 a0019c0037t0015 a0020c0035t0016 a0022c0047t0004 a0026c0045t0002	a0001c0001t0004g0037 a0001c0001t0004g0040 a0001c0001t0004g0286 others(74): Show a0001c0001t0004g0037 a0001c0001t0004g0040 a0001c0001t0004g0286 a0001c0001t0004g0298 a0001c0001t0005g0229 a0001c0001t0006g0055 a0001c0001t0006g0083 a0001c0001t0006g0268 a0001c0001t0006g0312 a0001c0001t0007g0275 a0001c0001t0010g0170 a0001c0001t0020g0278 a0001c0003t0005g0144 a0001c0003t0005g0169 a0001c0003t0005g0185 a0001c0003t0005g0232 a0001c0003t0005g0239 a0001c0003t0005g0241 a0001c0003t0005g0255 a0001c0003t0005g0257 a0001c0003t0007g0192 a0001c0003t0007g0197 a0001c0003t0007g0236 a0001c0010t0008g0042 a0001c0010t0008g0274 a0001c0010t0029g0036 a0001c0013t0004g0063 a0001c0013t0004g0271 a0001c0013t0004g0293 a0001c0018t0007g0223 a0001c0042t0005g0261 a0002c0002t0004g0072 a0002c0002t0004g0087 a0002c0002t0004g0265 a0002c0002t0004g0266 a0002c0002t0004g0267 a0002c0002t0004g0290 a0002c0002t0005g0113 a0002c0002t0005g0160 a0002c0002t0006g0059 a0002c0002t0006g0060 a0002c0002t0010g0057 a0002c0002t0010g0064 a0002c0002t0021g0280 a0002c0008t0005g0091 a0002c0008t0005g0246 a0002c0008t0018g0105 a0002c0008t0027g0111 a0002c0017t0005g0022 a0002c0023t0004g0050 a0002c0051t0008g0039 a0003c0007t0004g0172 a0003c0007t0006g0056 a0003c0014t0002g0089 a0003c0015t0008g0157 a0003c0015t0008g0164 a0003c0022t0004g0155 a0003c0055t0019g0263 a0004c0006t0004g0174 a0007c0028t0004g0162 a0008c0016t0002g0165 a0008c0016t0002g0167 a0008c0016t0026g0163 a0009c0025t0007g0281 a0009c0025t0007g0282 a0009c0054t0008g0065 a0011c0044t0004g0341 a0012c0020t0002g0034 a0012c0020t0002g0035 a0014c0046t0004g0074 a0015c0034t0006g0285 a0016c0053t0002g0292 a0018c0031t0004g0173 a0019c0037t0015g0032 a0020c0035t0016g0009 a0022c0047t0004g0061 a0026c0045t0002g0047	77	344	0.2238	-12	c.64 others(23): Show c.6423_*6434delCTCCAAATTAAT	TMC2	ENSG00000149488.14	transcript	ENST00000358864.2	protein_coding		4194		chr20	TogoVar
TMC3_chr15_81326088_81379213	81372349	GACACACA others(5): Show GACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01515.hp2 HG02074.hp2 others(7): Show HG00544.hp1 HG01515.hp2 HG02074.hp2 HG02109.hp2 HG03225.hp2 NA18987.hp2 NA19030.hp1 NA19077.hp2 NA20300.hp1 NA20905.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0013 a0017	a0001c0001 a0003c0003 a0003c0018 others(3): Show a0001c0001 a0003c0003 a0003c0018 a0004c0004 a0013c0016 a0017c0023	a0001c0001t0001 a0003c0003t0003 a0003c0018t0003 others(3): Show a0001c0001t0001 a0003c0003t0003 a0003c0018t0003 a0004c0004t0002 a0013c0016t0007 a0017c0023t0002	a0001c0001t0001g0222 a0001c0001t0001g0245 a0001c0001t0001g0246 others(7): Show a0001c0001t0001g0222 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0306 a0003c0003t0003g0191 a0003c0018t0003g0192 a0004c0004t0002g0149 a0013c0016t0007g0066 a0013c0016t0007g0067 a0017c0023t0002g0148	10	390	0.0256	-12	c.236 others(27): Show c.236+230_236+241delGTGTGTGTGTGT	TMC3	ENSG00000188869.13	transcript	ENST00000359440.6	protein_coding	2/21			chr15	TogoVar
TMC4_chr19_54155108_54178160	54166323	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01346.hp1 others(22): Show HG01109.hp2 HG01243.hp1 HG01346.hp1 HG01981.hp1 HG02004.hp1 HG02055.hp2 HG02145.hp1 HG02717.hp2 HG02895.hp2 HG02976.hp1 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp1 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG03834.hp2 HG04115.hp2 NA18992.hp1 NA18999.hp2 NA19030.hp2 NA19065.hp2 NA19090.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0007 a0001c0001 a0003c0003 a0006c0007	a0001c0001t0001 a0003c0003t0001 a0006c0007t0002 a0001c0001t0001 a0003c0003t0001 a0006c0007t0002	a0001c0001t0001g0257 a0003c0003t0001g0011 a0003c0003t0001g0013 others(22): Show a0001c0001t0001g0257 a0003c0003t0001g0011 a0003c0003t0001g0013 a0003c0003t0001g0082 a0003c0003t0001g0083 a0003c0003t0001g0084 a0003c0003t0001g0085 a0003c0003t0001g0086 a0003c0003t0001g0087 a0003c0003t0001g0089 a0003c0003t0001g0090 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0093 a0003c0003t0001g0095 a0003c0003t0001g0181 a0003c0003t0001g0222 a0003c0003t0001g0232 a0003c0003t0001g0233 a0003c0003t0001g0246 a0003c0003t0001g0258 a0006c0007t0002g0278 a0006c0007t0002g0282 a0006c0007t0002g0283 a0006c0007t0002g0284	25	407	0.0614	-12	c.798 others(27): Show c.798-769_798-758delTTTTTTTTTTTT	TMC4	ENSG00000167608.12	transcript	ENST00000619895.5	protein_coding	5/14			chr19	TogoVar
TMC4_chr19_54155108_54178160	54168877	CTTTTCTT others(5): Show CTTTTCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0373 a0004c0004t0002g0373	1	407	0.0025	-12	c.443 others(27): Show c.443-209_443-198delAAGAAAAGAAAA	TMC4	ENSG00000167608.12	transcript	ENST00000619895.5	protein_coding	3/14			chr19	TogoVar
TMC4_chr19_54155108_54178160	54168912	TTTCCTTC others(5): Show TTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01884.hp2 HG02055.hp1 others(10): Show HG00423.hp2 HG01884.hp2 HG02055.hp1 HG02165.hp1 HG02258.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03486.hp2 NA19043.hp2	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0006 a0010	a0002c0002 a0003c0009 a0004c0004 others(2): Show a0002c0002 a0003c0009 a0004c0004 a0006c0010 a0010c0015	a0002c0002t0002 a0003c0009t0001 a0004c0004t0002 others(2): Show a0002c0002t0002 a0003c0009t0001 a0004c0004t0002 a0006c0010t0002 a0010c0015t0002	a0002c0002t0002g0271 a0002c0002t0002g0274 a0002c0002t0002g0275 others(9): Show a0002c0002t0002g0271 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0280 a0002c0002t0002g0298 a0003c0009t0001g0224 a0004c0004t0002g0006 a0004c0004t0002g0370 a0006c0010t0002g0273 a0010c0015t0002g0281	13	407	0.0319	-12	c.443 others(27): Show c.443-244_443-233delGGAAGGAAGGAA	TMC4	ENSG00000167608.12	transcript	ENST00000619895.5	protein_coding	3/14			chr19	TogoVar
TMC4_chr19_54155108_54178160	54177900	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(65): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00673.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01123.hp1 HG01167.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01258.hp2 HG01346.hp2 HG01516.hp1 HG01516.hp2 HG01934.hp2 HG01978.hp1 HG02015.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp2 HG02148.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02647.hp1 HG02698.hp1 HG02735.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03195.hp1 HG03471.hp2 HG03579.hp2 HG03688.hp1 HG03710.hp2 HG03834.hp2 HG04228.hp2 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18948.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp2 NA18971.hp2 NA18979.hp1 NA18986.hp2 NA18999.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19081.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0018	a0001c0001 a0001c0012 a0002c0002 others(5): Show a0001c0001 a0001c0012 a0002c0002 a0002c0011 a0003c0003 a0003c0005 a0004c0004 a0018c0022	a0001c0001t0001 a0001c0001t0003 a0001c0012t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0012t0001 a0002c0002t0002 a0002c0011t0002 a0003c0003t0001 a0003c0005t0001 a0004c0004t0002 a0018c0022t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(64): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0130 a0001c0001t0003g0018 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0012t0001g0166 a0002c0002t0002g0286 a0002c0002t0002g0291 a0002c0002t0002g0294 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0305 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0321 a0002c0002t0002g0326 a0002c0002t0002g0328 a0002c0011t0002g0335 a0003c0003t0001g0011 a0003c0003t0001g0050 a0003c0003t0001g0071 a0003c0003t0001g0082 a0003c0003t0001g0093 a0003c0003t0001g0095 a0003c0005t0001g0072 a0004c0004t0002g0006 a0004c0004t0002g0344 a0004c0004t0002g0348 a0004c0004t0002g0349 a0004c0004t0002g0350 a0004c0004t0002g0351 a0004c0004t0002g0352 a0004c0004t0002g0355 a0004c0004t0002g0369 a0004c0004t0002g0370 a0004c0004t0002g0373 a0004c0004t0002g0377 a0018c0022t0001g0039	68	407	0.1671	-12	c.-47 others(23): Show c.-4795_-4784delAAAAAAAAAAAA	TMC4	ENSG00000167608.12	transcript	ENST00000619895.5	protein_coding		4741		chr19	TogoVar
TMC5_chr16_19412883_19504113	19443884	GATGGATG others(5): Show GATGGATGGATAA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0173 a0001c0001t0002g0174	2	336	0.0060	-12	c.789 others(27): Show c.789-182_789-171delGGATGGATAAAT	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMC5_chr16_19412883_19504113	19448149	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01123.hp2 HG01175.hp2 others(20): Show HG01081.hp1 HG01123.hp2 HG01175.hp2 HG01361.hp1 HG01891.hp2 HG02145.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03540.hp2 NA19043.hp1 NA20300.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0009 a0010c0027 a0001c0001 a0001c0009 a0010c0027	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 a0001c0009t0018 a0010c0027t0004	a0001c0001t0001g0100 a0001c0001t0001g0117 a0001c0001t0003g0012 others(20): Show a0001c0001t0001g0100 a0001c0001t0001g0117 a0001c0001t0003g0012 a0001c0001t0004g0018 a0001c0001t0004g0037 a0001c0001t0004g0041 a0001c0001t0004g0046 a0001c0001t0004g0061 a0001c0001t0004g0067 a0001c0001t0004g0083 a0001c0001t0004g0091 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0115 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0283 a0001c0001t0011g0017 a0001c0001t0011g0064 a0001c0001t0013g0114 a0001c0009t0018g0042 a0001c0009t0018g0043 a0010c0027t0004g0090	23	336	0.0685	-12	c.959 others(29): Show c.959-1386_959-1375delAAAAAAAAAAAA	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMC5_chr16_19412883_19504113	19457709	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG02965.hp2 others(3): Show HG00140.hp2 HG00733.hp2 HG02965.hp2 HG03579.hp2 NA19240.hp2 NA21309.hp1	a0003 a0020 a0003 a0020	a0003c0003 a0003c0015 a0020c0021 a0003c0003 a0003c0015 a0020c0021	a0003c0003t0002 a0003c0003t0015 a0003c0015t0023 others(1): Show a0003c0003t0002 a0003c0003t0015 a0003c0015t0023 a0020c0021t0002	a0003c0003t0002g0063 a0003c0003t0002g0281 a0003c0003t0015g0282 others(3): Show a0003c0003t0002g0063 a0003c0003t0002g0281 a0003c0003t0015g0282 a0003c0003t0015g0317 a0003c0015t0023g0010 a0020c0021t0002g0060	6	336	0.0179	-12	c.104 others(31): Show c.1049-2503_1049-2492delTTTTTTTTTTTT	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMC5_chr16_19412883_19504113	19465053	TTCTTTTC others(5): Show TTCTTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01884.hp1 HG01891.hp1 others(4): Show HG00673.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG02486.hp1 NA18943.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010	a0001c0001t0003g0081 a0001c0001t0009g0101 a0001c0001t0009g0102 others(4): Show a0001c0001t0003g0081 a0001c0001t0009g0101 a0001c0001t0009g0102 a0001c0001t0009g0103 a0001c0001t0009g0108 a0001c0001t0009g0124 a0001c0001t0010g0085	7	336	0.0208	-12	c.148 others(31): Show c.1486-1027_1486-1016delCTTTTCCTTCCT	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMC5_chr16_19412883_19504113	19465057	TTTCCTTC others(5): Show TTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02135.hp1 NA18522.hp2 others(7): Show HG00621.hp1 HG02135.hp1 NA18522.hp2 NA18964.hp2 NA18967.hp1 NA19009.hp1 NA19064.hp1 NA19077.hp1 NA19088.hp1 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0003 a0001c0001t0021 a0001c0001t0029 others(1): Show a0001c0001t0003 a0001c0001t0021 a0001c0001t0029 a0005c0004t0013	a0001c0001t0003g0002 a0001c0001t0003g0024 a0001c0001t0003g0082 others(7): Show a0001c0001t0003g0002 a0001c0001t0003g0024 a0001c0001t0003g0082 a0001c0001t0003g0232 a0001c0001t0003g0252 a0001c0001t0003g0277 a0001c0001t0021g0070 a0001c0001t0029g0188 a0005c0004t0013g0098 a0005c0004t0013g0293	10	336	0.0298	-12	c.148 others(29): Show c.1486-979_1486-968delTCCTTCCTTCCT	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMC5_chr16_19412883_19504113	19465111	TCCTCCCT others(5): Show TCCTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18998.hp1 NA19080.hp1 HG03209.hp2 NA18998.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0019 a0001c0001t0004 a0001c0001t0005 a0001c0001t0019	a0001c0001t0004g0118 a0001c0001t0005g0180 a0001c0001t0019g0157 a0001c0001t0004g0118 a0001c0001t0005g0180 a0001c0001t0019g0157	3	336	0.0089	-12	c.148 others(29): Show c.1486-959_1486-948delCCCTCCCTCCCT	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMC5_chr16_19412883_19504113	19473345	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02896.hp1 HG02897.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0005t0004 a0001c0001t0004 a0001c0005t0004	a0001c0001t0004g0083 a0001c0005t0004g0099 a0001c0005t0004g0107 a0001c0001t0004g0083 a0001c0005t0004g0099 a0001c0005t0004g0107	3	336	0.0089	-12	c.193 others(29): Show c.1939-755_1939-744delAAAAAAAAAAAA	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMC5_chr16_19412883_19504113	19487701	CAATAAAT others(5): Show CAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01934.hp1 HG02135.hp2 others(10): Show HG00544.hp1 HG01934.hp1 HG02135.hp2 HG02965.hp1 NA18948.hp1 NA18962.hp2 NA18968.hp1 NA18971.hp2 NA18972.hp2 NA18981.hp2 NA18999.hp2 NA19043.hp2 NA19068.hp2	a0001 a0002 a0019 a0001 a0002 a0019	a0001c0001 a0002c0016 a0019c0026 a0001c0001 a0002c0016 a0019c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0002c0016t0002 a0019c0026t0002	a0001c0001t0001g0273 a0001c0001t0002g0161 a0001c0001t0002g0197 others(10): Show a0001c0001t0001g0273 a0001c0001t0002g0161 a0001c0001t0002g0197 a0001c0001t0002g0226 a0001c0001t0002g0231 a0001c0001t0002g0259 a0001c0001t0002g0275 a0001c0001t0007g0054 a0001c0001t0007g0190 a0001c0001t0007g0198 a0001c0001t0007g0250 a0002c0016t0002g0011 a0019c0026t0002g0160	13	336	0.0387	-12	c.257 others(29): Show c.2573+421_2573+432delATAAATAAATAA	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMC5_chr16_19412883_19504113	19490711	TTTCCTTC others(5): Show TTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01496.hp1 HG02615.hp1 others(10): Show HG00408.hp1 HG01496.hp1 HG02615.hp1 HG02976.hp2 HG03834.hp2 NA18973.hp1 NA18974.hp2 NA18979.hp1 NA19000.hp2 NA19012.hp1 NA19054.hp1 NA19085.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0002g0065 a0001c0001t0002g0144 a0001c0001t0002g0145 others(10): Show a0001c0001t0002g0065 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0166 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0333 a0001c0001t0004g0126 a0001c0001t0007g0016 a0001c0001t0007g0059	13	336	0.0387	-12	c.274 others(29): Show c.2747+184_2747+195delTTCCTTCCTTCC	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMC5_chr16_19412883_19504113	19501256	GTGTTGAA others(5): Show GTGTTGAACAGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG01891.hp1 others(6): Show HG01109.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG02486.hp1 HG02922.hp1 HG03041.hp1 HG03453.hp2 NA20129.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0014 a0001c0001 a0011c0014	a0001c0001t0009 a0011c0014t0009 a0001c0001t0009 a0011c0014t0009	a0001c0001t0009g0095 a0001c0001t0009g0101 a0001c0001t0009g0102 others(6): Show a0001c0001t0009g0095 a0001c0001t0009g0101 a0001c0001t0009g0102 a0001c0001t0009g0103 a0001c0001t0009g0106 a0001c0001t0009g0108 a0001c0001t0009g0109 a0001c0001t0009g0124 a0011c0014t0009g0052	9	336	0.0268	-12	c.32 others(23): Show c.3291_*3302delTGTTGAACAGCC	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding		2144		chr16	TogoVar
TMC5_chr16_19412883_19504113	19501299	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 NA18961.hp1 NA19054.hp2 HG01358.hp2 NA18961.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0028 a0001c0001t0003 a0001c0001t0015 a0001c0001t0028	a0001c0001t0003g0021 a0001c0001t0015g0039 a0001c0001t0028g0005 a0001c0001t0003g0021 a0001c0001t0015g0039 a0001c0001t0028g0005	3	336	0.0089	-12	c.33 others(23): Show c.3334_*3345delTTTTTTTTTTTT	TMC5	ENSG00000103534.17	transcript	ENST00000542583.7	protein_coding		2187		chr16	TogoVar
TMC7_chr16_18978934_19068942	19005056	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp1 HG02258.hp2 others(22): Show HG00642.hp2 HG00741.hp1 HG02258.hp2 HG02451.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG04184.hp2 HG06807.hp1 NA18959.hp1 NA18975.hp2 NA18978.hp1 NA18989.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0011	a0001c0001 a0001c0005 a0001c0018 others(6): Show a0001c0001 a0001c0005 a0001c0018 a0002c0002 a0003c0004 a0004c0008 a0004c0011 a0004c0012 a0011c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0005t0002 a0001c0018t0033 a0002c0002t0002 a0002c0002t0019 a0002c0002t0031 a0003c0004t0003 a0003c0004t0006 a0004c0008t0025 a0004c0011t0017 a0004c0012t0032 a0011c0015t0002	a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0003g0005 others(22): Show a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0014 a0001c0001t0003g0254 a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0008g0186 a0001c0001t0008g0187 a0001c0005t0002g0248 a0001c0018t0033g0247 a0002c0002t0002g0053 a0002c0002t0002g0109 a0002c0002t0019g0189 a0002c0002t0019g0190 a0002c0002t0031g0110 a0003c0004t0003g0251 a0003c0004t0006g0252 a0003c0004t0006g0253 a0003c0004t0006g0255 a0004c0008t0025g0198 a0004c0011t0017g0185 a0004c0012t0032g0188 a0011c0015t0002g0054	25	282	0.0887	-12	c.68- others(27): Show c.68-4080_68-4069delATTTATTTATTT	TMC7	ENSG00000170537.13	transcript	ENST00000304381.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMC8_chr17_78125771_78147968	78135205	CCTCCAAA others(5): Show CCTCCAAAGGAAG	C C	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0019 a0019	a0019c0025 a0019c0025	a0019c0025t0002 a0019c0025t0002	a0019c0025t0002g0133 a0019c0025t0002g0133	1	454	0.0022	-12	c.112 others(29): Show c.1127+198_1127+209delTCCAAAGGAAGC	TMC8	ENSG00000167895.16	transcript	ENST00000318430.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
TMCC1_chr3_129642792_129898711	129695096	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	258	0.0039	-12	c.577 others(31): Show c.577-23844_577-23833delTTTTTTTTTTTT	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6			chr3	TogoVar
TMCC1_chr3_129642792_129898711	129712001	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0228 a0001c0001t0026g0228	1	258	0.0039	-12	c.577 others(31): Show c.577-40749_577-40738delTTTTTTTTTTTT	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6			chr3	TogoVar
TMCC1_chr3_129642792_129898711	129760454	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01255.hp2 HG01346.hp2 others(23): Show HG01109.hp2 HG01255.hp2 HG01346.hp2 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02723.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1 NA19030.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0019 a0001c0001t0025 a0001c0002t0005	a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 others(23): Show a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0193 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0201 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0008g0253 a0001c0001t0013g0191 a0001c0001t0013g0192 a0001c0001t0013g0194 a0001c0001t0013g0204 a0001c0001t0019g0020 a0001c0001t0025g0195 a0001c0002t0005g0169	26	258	0.1008	-12	c.576 others(31): Show c.576+67337_576+67348delCACACACACACA	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6			chr3	TogoVar
TMCC1_chr3_129642792_129898711	129763207	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG00733.hp2 others(18): Show HG00280.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01109.hp1 HG01515.hp2 HG01517.hp2 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp2 HG02922.hp1 HG03486.hp1 HG03491.hp2 HG03688.hp2 HG03942.hp2 NA18952.hp2 NA18998.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0001t0023 a0001c0004t0003	a0001c0001t0003g0149 a0001c0001t0003g0205 a0001c0001t0003g0206 others(18): Show a0001c0001t0003g0149 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0218 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0227 a0001c0001t0003g0237 a0001c0001t0004g0189 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0016g0150 a0001c0001t0016g0151 a0001c0001t0023g0213 a0001c0004t0003g0230 a0001c0004t0003g0231	21	258	0.0814	-12	c.576 others(31): Show c.576+64584_576+64595delATTTATTTATTT	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6			chr3	TogoVar
TMCC1_chr3_129642792_129898711	129764757	GTATATAT others(5): Show GTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02723.hp2 NA18983.hp2 others(1): Show HG01109.hp2 HG02723.hp2 NA18983.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0239 a0001c0001t0004g0193 a0001c0001t0004g0249 others(1): Show a0001c0001t0003g0239 a0001c0001t0004g0193 a0001c0001t0004g0249 a0001c0001t0004g0250	4	258	0.0155	-12	c.576 others(31): Show c.576+63034_576+63045delTATATATATATA	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6			chr3	TogoVar
TMCC1_chr3_129642792_129898711	129764779	ATATATAT others(5): Show ATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG00733.hp2 others(7): Show HG00280.hp2 HG00642.hp2 HG00733.hp2 HG01069.hp2 HG01109.hp1 HG02258.hp1 HG02622.hp1 HG02622.hp2 HG03139.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016	a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 others(7): Show a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0003g0149 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0004g0252 a0001c0001t0016g0151	10	258	0.0388	-12	c.576 others(31): Show c.576+63012_576+63023delAATATATATATA	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6			chr3	TogoVar
TMCC1_chr3_129642792_129898711	129764781	ATATATAT others(5): Show ATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0208 a0001c0001t0003g0209	2	258	0.0078	-12	c.576 others(31): Show c.576+63010_576+63021delAAAATATATATA	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6			chr3	TogoVar
TMCC1_chr3_129642792_129898711	129764783	ATATATAT others(5): Show ATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0038 a0001c0001t0024g0038	1	258	0.0039	-12	c.576 others(31): Show c.576+63008_576+63019delAAAAAATATATA	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6			chr3	TogoVar
TMCC1_chr3_129642792_129898711	129772321	ATAGAGTG others(5): Show ATAGAGTGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0258 a0001c0001t0027g0258	1	258	0.0039	-12	c.576 others(31): Show c.576+55470_576+55481delCTCTCCACTCTA	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6			chr3	TogoVar
TMCC1_chr3_129642792_129898711	129838752	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01516.hp2 HG01167.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0074 a0001c0002t0005g0184 a0001c0001t0001g0074 a0001c0002t0005g0184	2	258	0.0078	-12	c.-18 others(31): Show c.-183-5938_-183-5927delTTTTTTTTTTTT	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	2/6			chr3	TogoVar
TMCC2_chr1_205222946_205278343	205229153	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02083.hp1 HG03492.hp1 others(1): Show HG00621.hp1 HG02083.hp1 HG03492.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050	4	372	0.0108	-12	c.207 others(27): Show c.207+416_207+427delGTGTGTGTGTGT	TMCC2	ENSG00000133069.17	transcript	ENST00000358024.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
TMCC3_chr12_94562122_94655557	94582965	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0115 a0001c0002t0006g0115	1	378	0.0027	-12	c.79- others(25): Show c.79-439_79-428delAAAAAAAAAAAA	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding	1/3			chr12	TogoVar
TMCC3_chr12_94562122_94655557	94582983	TTTTTTTT others(5): Show TTTTTTTTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0030 a0001c0004t0015g0030	1	378	0.0027	-12	c.79- others(25): Show c.79-457_79-446delTAAAAAAAAAAA	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding	1/3			chr12	TogoVar
TMCC3_chr12_94562122_94655557	94597120	AATACATA others(5): Show AATACATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0237 a0001c0004t0023g0237	1	378	0.0027	-12	c.79- others(29): Show c.79-14594_79-14583delATATATATGTAT	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding	1/3			chr12	TogoVar
TMCC3_chr12_94562122_94655557	94597147	ATATATAT others(5): Show ATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG00621.hp2 others(16): Show HG00438.hp1 HG00609.hp1 HG00621.hp2 HG02055.hp2 HG02074.hp1 HG02129.hp2 HG02132.hp1 HG02280.hp1 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG03688.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp2 NA18945.hp1 NA18962.hp2 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0024 a0001c0002 a0001c0004 a0001c0024	a0001c0002t0001 a0001c0002t0003 a0001c0004t0004 others(8): Show a0001c0002t0001 a0001c0002t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0006 a0001c0004t0013 a0001c0004t0014 a0001c0004t0016 a0001c0004t0027 a0001c0004t0029 a0001c0024t0028	a0001c0002t0001g0065 a0001c0002t0003g0250 a0001c0002t0003g0322 others(16): Show a0001c0002t0001g0065 a0001c0002t0003g0250 a0001c0002t0003g0322 a0001c0004t0004g0343 a0001c0004t0005g0046 a0001c0004t0005g0101 a0001c0004t0005g0103 a0001c0004t0005g0130 a0001c0004t0005g0150 a0001c0004t0005g0203 a0001c0004t0005g0207 a0001c0004t0006g0140 a0001c0004t0013g0069 a0001c0004t0014g0168 a0001c0004t0016g0055 a0001c0004t0027g0342 a0001c0004t0029g0301 a0001c0004t0029g0316 a0001c0024t0028g0284	19	378	0.0503	-12	c.79- others(29): Show c.79-14621_79-14610delCATATATATATA	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding	1/3			chr12	TogoVar
TMCC3_chr12_94562122_94655557	94597154	TATATGTA others(5): Show TATATGTATATAA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp2 HG02451.hp2 others(2): Show HG00733.hp2 HG00735.hp2 HG02451.hp2 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0011 a0001c0003t0018 a0001c0004t0034 a0001c0003t0011 a0001c0003t0018 a0001c0004t0034	a0001c0003t0011g0358 a0001c0003t0011g0359 a0001c0003t0018g0089 others(2): Show a0001c0003t0011g0358 a0001c0003t0011g0359 a0001c0003t0018g0089 a0001c0003t0018g0179 a0001c0004t0034g0357	5	378	0.0132	-12	c.79- others(29): Show c.79-14628_79-14617delTTATATACATAT	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding	1/3			chr12	TogoVar
TMCC3_chr12_94562122_94655557	94601808	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0338 a0001c0001t0059g0338	1	378	0.0027	-12	c.79- others(29): Show c.79-19282_79-19271delTTTTTTTTTTTT	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding	1/3			chr12	TogoVar
TMCC3_chr12_94562122_94655557	94639668	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA20129.hp2 NA18522.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0067 a0004c0008t0064 a0001c0001t0067 a0004c0008t0064	a0001c0001t0067g0348 a0004c0008t0064g0344 a0001c0001t0067g0348 a0004c0008t0064g0344	2	378	0.0053	-12	c.78+ others(29): Show c.78+10673_78+10684delGTGTGTGTGTGT	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding	1/3			chr12	TogoVar
TMCO1_chr1_165721795_165773868	165724986	TTCTCTCT others(5): Show TTCTCTCTCTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp1 others(63): Show HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG02040.hp1 HG02071.hp1 HG02155.hp2 HG02257.hp1 HG02293.hp2 HG02523.hp2 HG02698.hp2 HG03139.hp2 HG03239.hp1 HG03491.hp2 HG03942.hp1 HG04184.hp2 NA18939.hp2 NA18943.hp1 NA18948.hp2 NA18952.hp1 NA18953.hp2 NA18963.hp2 NA18965.hp1 NA18967.hp1 NA18970.hp2 NA18971.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18986.hp1 NA18989.hp2 NA18997.hp2 NA19003.hp2 NA19005.hp1 NA19058.hp2 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19084.hp1 NA19087.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 a0001c0002t0009 a0003c0005t0015	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(60): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0157 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0012g0112 a0001c0002t0001g0060 a0001c0002t0001g0130 a0001c0002t0001g0152 a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0001g0193 a0001c0002t0009g0062 a0003c0005t0015g0080	66	374	0.1765	-12	c.30 others(23): Show c.3025_*3036delGAGAGAGAGAGA	TMCO1	ENSG00000143183.18	transcript	ENST00000367881.11	protein_coding		1808		chr1	TogoVar
TMCO1_chr1_165721795_165773868	165725014	CTCTCTCT others(5): Show CTCTCTCTCTCTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01261.hp1 HG02004.hp1 others(13): Show HG00735.hp1 HG01261.hp1 HG02004.hp1 HG02615.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp2 HG03041.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03834.hp2 NA18946.hp2 NA18974.hp1 NA18980.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0063 a0001c0001t0001g0068 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0081 a0001c0001t0001g0092 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0158 a0001c0001t0001g0173 a0001c0001t0001g0216 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0002g0312	16	374	0.0428	-12	c.29 others(23): Show c.2997_*3008delTAGAGAGAGAGA	TMCO1	ENSG00000143183.18	transcript	ENST00000367881.11	protein_coding		1780		chr1	TogoVar
TMCO1_chr1_165721795_165773868	165725016	CTCTCTCT others(5): Show CTCTCTCTCTATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01243.hp2 others(18): Show HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01891.hp2 HG01943.hp2 HG02683.hp1 HG02897.hp1 HG02897.hp2 HG03017.hp1 HG03453.hp2 HG03579.hp2 HG03688.hp2 HG03710.hp1 HG04184.hp1 NA18522.hp1 NA18948.hp1 NA18965.hp2 NA18977.hp2 NA18982.hp1 NA18997.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0057 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0057 a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0146 a0001c0001t0001g0174 a0001c0001t0001g0218 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0003g0026 a0001c0001t0008g0027	21	374	0.0562	-12	c.29 others(23): Show c.2995_*3006delTATAGAGAGAGA	TMCO1	ENSG00000143183.18	transcript	ENST00000367881.11	protein_coding		1778		chr1	TogoVar
TMCO1_chr1_165721795_165773868	165725018	CTCTCTCT others(5): Show CTCTCTCTATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01192.hp2 HG01496.hp2 others(6): Show HG00741.hp1 HG01192.hp2 HG01496.hp2 HG02257.hp2 HG03540.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0010 a0001c0001t0001g0055 a0001c0001t0001g0067 others(6): Show a0001c0001t0001g0010 a0001c0001t0001g0055 a0001c0001t0001g0067 a0001c0001t0001g0084 a0001c0001t0001g0238 a0001c0001t0001g0253 a0001c0001t0001g0277 a0001c0001t0001g0323 a0001c0001t0013g0089	9	374	0.0241	-12	c.29 others(23): Show c.2993_*3004delTATATAGAGAGA	TMCO1	ENSG00000143183.18	transcript	ENST00000367881.11	protein_coding		1776		chr1	TogoVar
TMCO1_chr1_165721795_165773868	165732477	TTCTCTCT others(5): Show TTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0035 a0001c0001t0007g0035	1	374	0.0027	-12	c.469 others(29): Show c.469-4368_469-4357delGAGAGAGAGAGA	TMCO1	ENSG00000143183.18	transcript	ENST00000367881.11	protein_coding	6/6			chr1	TogoVar
TMCO1_chr1_165721795_165773868	165732495	CTCTCTCT others(5): Show CTCTCTCTCTCTA	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0036 a0001c0001t0007g0036	1	374	0.0027	-12	c.469 others(29): Show c.469-4386_469-4375delTAGAGAGAGAGA	TMCO1	ENSG00000143183.18	transcript	ENST00000367881.11	protein_coding	6/6			chr1	TogoVar
TMCO2_chr1_40242937_40256684	40249255	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG02027.hp2 others(18): Show HG00423.hp2 HG00558.hp1 HG02027.hp2 HG02630.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02970.hp2 HG03041.hp1 HG04199.hp2 NA18944.hp1 NA18949.hp2 NA18952.hp1 NA18975.hp2 NA19002.hp2 NA19057.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0047 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0100	21	426	0.0493	-12	c.237 others(29): Show c.237+1061_237+1072delGTGTGTGTGTGT	TMCO2	ENSG00000188800.6	transcript	ENST00000372766.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
TMCO3_chr13_113486021_113555229	113503345	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18972.hp2 HG00438.hp2 NA18972.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0262 a0002c0003t0003g0263 a0002c0003t0003g0262 a0002c0003t0003g0263	2	368	0.0054	-12	c.946 others(27): Show c.946-123_946-112delGTGTGTGTGTGT	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr13	TogoVar

Search by Variant

Search

Search Results