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
TMEM30B_chr14_61272370_61286338	61282801	A A	ATTCAAGT others(9): Show ATTCAAGTGACTTGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	446	0.0022	16	c.-16 others(27): Show c.-1670_-1655dupATTCAAGTCACTTGAA	TMEM30B	ENSG00000182107.7	transcript	ENST00000555868.2	protein_coding		1464		chr14	TogoVar
TMEM31_chrX_103705909_103719032	103708219	C C	CGAGAGAG others(9): Show CGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	17	0.0588	16	c.-28 others(27): Show c.-2881_-2880insGAGAGAGAGAGAGAGA	TMEM31	ENSG00000179363.7	transcript	ENST00000319560.7	protein_coding		2689		chrX	TogoVar
TMEM33_chr4_41930429_41965803	41958700	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0019 a0001c0001t0012g0019	1	135	0.0074	16	c.45 others(27): Show c.4512_*4527dupTTTTTTTTTTTTTTTT	TMEM33	ENSG00000109133.14	transcript	ENST00000504986.6	protein_coding	7/7	4528	INFO_REALIGN_3_PRIME	chr4	TogoVar
TMEM35A_chrX_101073879_101101367	101090169	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03041.hp2 HG03516.hp1 others(5): Show HG02559.hp2 HG03041.hp2 HG03516.hp1 HG03516.hp2 HG06807.hp2 NA18906.hp2 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012	a0001c0001t0002g0040 a0001c0001t0005g0013 a0001c0001t0005g0060 others(4): Show a0001c0001t0002g0040 a0001c0001t0005g0013 a0001c0001t0005g0060 a0001c0001t0010g0012 a0001c0001t0010g0028 a0001c0001t0011g0037 a0001c0001t0012g0012	8	294	0.0272	16	c.121 others(33): Show c.121-4393_121-4392insTTTTTTTTTTTTTTTT	TMEM35A	ENSG00000126950.8	transcript	ENST00000372930.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
TMEM38A_chr19_16656139_16695023	16671201	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp1 HG02572.hp2 others(4): Show HG01109.hp2 HG02109.hp1 HG02572.hp2 HG02647.hp2 HG02809.hp2 HG03041.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0025 a0001c0001t0006g0239 a0001c0001t0006g0256 others(4): Show a0001c0001t0006g0025 a0001c0001t0006g0239 a0001c0001t0006g0256 a0001c0001t0006g0258 a0001c0001t0006g0260 a0001c0001t0006g0263 a0001c0001t0006g0265	7	116	0.0603	16	c.125 others(33): Show c.125-8776_125-8761dupTTTTTTTTTTTTTTTT	TMEM38A	ENSG00000072954.7	transcript	ENST00000187762.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMEM38A_chr19_16656139_16695023	16685049	T T	TATAAATA others(9): Show TATAAATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00741.hp1 HG01884.hp1 others(26): Show HG00597.hp1 HG00741.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp2 HG02071.hp1 HG02083.hp2 HG02135.hp1 HG02486.hp2 HG02647.hp2 HG02683.hp2 HG02818.hp2 HG03225.hp2 HG03579.hp1 HG03704.hp1 HG04184.hp1 NA18945.hp2 NA18946.hp2 NA18959.hp1 NA18962.hp2 NA18965.hp2 NA19009.hp1 NA19030.hp2 NA19043.hp2 NA19067.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002 a0001c0002t0003 a0001c0002t0016	a0001c0001t0002g0266 a0001c0001t0002g0295 a0001c0001t0003g0187 others(25): Show a0001c0001t0002g0266 a0001c0001t0002g0295 a0001c0001t0003g0187 a0001c0001t0003g0191 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0005g0246 a0001c0001t0006g0025 a0001c0001t0006g0260 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0145 a0001c0002t0002g0148 a0001c0002t0002g0151 a0001c0002t0002g0157 a0001c0002t0002g0161 a0001c0002t0002g0166 a0001c0002t0002g0170 a0001c0002t0002g0174 a0001c0002t0002g0216 a0001c0002t0002g0220 a0001c0002t0003g0158 a0001c0002t0003g0172 a0001c0002t0003g0217 a0001c0002t0016g0159	29	181	0.1602	16	c.555 others(33): Show c.555-1239_555-1238insATAAATAAATAAATAA	TMEM38A	ENSG00000072954.7	transcript	ENST00000187762.7	protein_coding	4/5			chr19	TogoVar
TMEM38B_chr9_105689541_105781629	105716374	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03471.hp1 NA21309.hp1 HG02486.hp1 HG03471.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0012 a0001c0001t0003 a0001c0003t0012	a0001c0001t0003g0272 a0001c0003t0012g0269 a0001c0003t0012g0270 a0001c0001t0003g0272 a0001c0003t0012g0269 a0001c0003t0012g0270	3	133	0.0226	16	c.270 others(33): Show c.270-5161_270-5146dupGTGTGTGTGTGTGTGT	TMEM38B	ENSG00000095209.12	transcript	ENST00000374692.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
TMEM39A_chr3_119423949_119468615	119462633	A A	AGGGGGGG others(9): Show AGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	161	0.0062	16	c.-74 others(31): Show c.-74-486_-74-485insCCCCCCCCCCCCCCCC	TMEM39A	ENSG00000176142.13	transcript	ENST00000319172.10	protein_coding	1/8			chr3	TogoVar
TMEM39B_chr1_32067939_32107863	32083986	G G	GACACACA others(9): Show GACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0079 a0001c0003t0001g0079	1	255	0.0039	16	c.590 others(33): Show c.590+6675_590+6676insCACACACACACACACA	TMEM39B	ENSG00000121775.18	transcript	ENST00000336294.10	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
TMEM40_chr3_12728528_12764259	12755213	T T	TTCTTTCT others(9): Show TTCTTTCTTTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0222 a0001c0001t0003g0222	1	272	0.0037	16	c.-9+ others(31): Show c.-9+3977_-9+3978insGAGAGAGAAAGAAAGA	TMEM40	ENSG00000088726.16	transcript	ENST00000314124.12	protein_coding	1/11			chr3	TogoVar
TMEM40_chr3_12728528_12764259	12755233	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	83	0.0120	16	c.-9+ others(31): Show c.-9+3957_-9+3958insAAGAAAGAGAGAGAGA	TMEM40	ENSG00000088726.16	transcript	ENST00000314124.12	protein_coding	1/11			chr3	TogoVar
TMEM40_chr3_12728528_12764259	12755233	C C	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG01123.hp1 HG00438.hp1 HG00558.hp2 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0197 a0001c0001t0003g0014 a0001c0001t0003g0089 a0001c0001t0002g0197 a0001c0001t0003g0014 a0001c0001t0003g0089	3	85	0.0353	16	c.-9+ others(31): Show c.-9+3942_-9+3957dupAAGAAAGAAAGAAAGA	TMEM40	ENSG00000088726.16	transcript	ENST00000314124.12	protein_coding	1/11			chr3	TogoVar
TMEM41B_chr11_9275654_9319593	9299325	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01070.hp2 HG01071.hp1 others(11): Show HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01517.hp1 HG02698.hp1 NA19000.hp1 NA19083.hp2 NA20752.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0003c0004t0001 a0001c0001t0003 a0003c0004t0001	a0001c0001t0003g0006 a0001c0001t0003g0031 a0001c0001t0003g0034 others(9): Show a0001c0001t0003g0006 a0001c0001t0003g0031 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0051 a0003c0004t0001g0267 a0003c0004t0001g0308	14	32	0.4375	16	c.239 others(31): Show c.239+243_239+258dupGTGTGTGTGTGTGTGT	TMEM41B	ENSG00000166471.11	transcript	ENST00000528080.6	protein_coding	2/6			chr11	TogoVar
TMEM44_chr3_194582678_194638419	194594125	A A	ATCTGTCT others(9): Show ATCTGTCTGTCTGTCTG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0234 a0001c0002t0001g0234	1	395	0.0025	16	c.117 others(35): Show c.1177-5487_1177-5486insCAGACAGACAGACAGA	TMEM44	ENSG00000145014.18	transcript	ENST00000347147.9	protein_coding	9/9			chr3	TogoVar
TMEM44_chr3_194582678_194638419	194594129	A A	ATCTGTCT others(9): Show ATCTGTCTGTCTGTCTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp2 HG01192.hp2 others(12): Show HG00099.hp1 HG01099.hp2 HG01192.hp2 HG01981.hp2 HG02148.hp2 HG03540.hp1 HG04228.hp1 NA18954.hp2 NA18970.hp1 NA18994.hp1 NA19005.hp2 NA19060.hp2 NA19078.hp2 NA19084.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0006 a0003c0004	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0002c0003t0001 a0002c0006t0001 a0003c0004t0001	a0001c0001t0001g0189 a0001c0001t0005g0055 a0001c0001t0005g0056 others(11): Show a0001c0001t0001g0189 a0001c0001t0005g0055 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0002t0001g0009 a0001c0002t0001g0243 a0001c0002t0001g0271 a0001c0002t0001g0280 a0001c0002t0002g0232 a0001c0002t0003g0210 a0001c0002t0003g0255 a0002c0003t0001g0082 a0002c0006t0001g0063 a0003c0004t0001g0185	15	368	0.0408	16	c.117 others(35): Show c.1177-5491_1177-5490insCAGACAGACAGACAGA	TMEM44	ENSG00000145014.18	transcript	ENST00000347147.9	protein_coding	9/9			chr3	TogoVar
TMEM44_chr3_194582678_194638419	194594133	A A	ATCTGTCT others(9): Show ATCTGTCTGTCTGTCTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp1 HG01952.hp1 others(11): Show HG00558.hp1 HG00639.hp1 HG01952.hp1 HG02004.hp2 HG02027.hp2 HG02074.hp2 NA18957.hp2 NA18960.hp1 NA18971.hp1 NA18992.hp1 NA19007.hp1 NA19010.hp1 NA19063.hp2 NA20805.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0008c0026	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0002c0003t0001 a0002c0003t0018 a0008c0026t0008	a0001c0001t0001g0362 a0001c0001t0001g0367 a0001c0001t0001g0378 others(11): Show a0001c0001t0001g0362 a0001c0001t0001g0367 a0001c0001t0001g0378 a0001c0001t0001g0384 a0001c0002t0001g0270 a0001c0002t0001g0275 a0001c0002t0002g0224 a0001c0002t0003g0214 a0001c0002t0003g0240 a0001c0002t0009g0226 a0002c0003t0001g0140 a0002c0003t0001g0147 a0002c0003t0018g0014 a0008c0026t0008g0047	14	285	0.0491	16	c.117 others(35): Show c.1177-5495_1177-5494insCAGACAGACAGACAGA	TMEM44	ENSG00000145014.18	transcript	ENST00000347147.9	protein_coding	9/9			chr3	TogoVar
TMEM44_chr3_194582678_194638419	194594153	A A	ATCTATCT others(9): Show ATCTATCTATCTGTCTG	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18964.hp1 NA18969.hp2 others(5): Show HG03704.hp1 NA18964.hp1 NA18969.hp2 NA18995.hp2 NA19070.hp1 NA19078.hp1 NA19084.hp1 NA19091.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0005 a0001c0001 a0002c0003 a0004c0005	a0001c0001t0001 a0002c0003t0001 a0004c0005t0002 others(1): Show a0001c0001t0001 a0002c0003t0001 a0004c0005t0002 a0004c0005t0003	a0001c0001t0001g0191 a0001c0001t0001g0375 a0002c0003t0001g0084 others(5): Show a0001c0001t0001g0191 a0001c0001t0001g0375 a0002c0003t0001g0084 a0002c0003t0001g0089 a0002c0003t0001g0102 a0004c0005t0002g0154 a0004c0005t0003g0145 a0004c0005t0003g0152	8	199	0.0402	16	c.117 others(35): Show c.1177-5515_1177-5514insCAGACAGATAGATAGA	TMEM44	ENSG00000145014.18	transcript	ENST00000347147.9	protein_coding	9/9			chr3	TogoVar
TMEM45A_chr3_100487619_100582444	100575363	C C	CTCTTTTT others(9): Show CTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0287 a0001c0002t0005g0287	1	61	0.0164	16	c.735 others(33): Show c.735-1561_735-1560insCTTTTTTTTTTTTTTT	TMEM45A	ENSG00000181458.10	transcript	ENST00000323523.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMEM45B_chr11_129810848_129865003	129812489	C C	CATACATA others(9): Show CATACATACATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0145 a0002c0002t0001g0145	1	376	0.0027	16	c.-34 others(27): Show c.-3418_-3417insATACATACATATATAT	TMEM45B	ENSG00000151715.8	transcript	ENST00000281441.8	protein_coding		3358		chr11	TogoVar
TMEM45B_chr11_129810848_129865003	129837585	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0138 a0003c0004t0003g0138	1	43	0.0233	16	c.-8- others(33): Show c.-8-14875_-8-14874insTTTTTTTTTTTTTTTT	TMEM45B	ENSG00000151715.8	transcript	ENST00000281441.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
TMEM45B_chr11_129810848_129865003	129840946	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	204	0.0049	16	c.-8- others(33): Show c.-8-11520_-8-11505dupAAAAAAAAAAAAAAAA	TMEM45B	ENSG00000151715.8	transcript	ENST00000281441.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
TMEM45B_chr11_129810848_129865003	129851543	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0157 a0002c0002t0001g0157	1	97	0.0103	16	c.-8- others(29): Show c.-8-917_-8-916insAAAAAAAAAAAAAAAA	TMEM45B	ENSG00000151715.8	transcript	ENST00000281441.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
TMEM50B_chr21_33444141_33484974	33446655	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02886.hp2 HG03098.hp2 HG02071.hp1 HG02886.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0143 a0001c0001t0001g0278 a0001c0001t0005g0002 a0001c0001t0001g0143 a0001c0001t0001g0278 a0001c0001t0005g0002	3	12	0.2500	16	c.41 others(27): Show c.4147_*4162dupTTTTTTTTTTTTTTTT	TMEM50B	ENSG00000142188.17	transcript	ENST00000542230.7	protein_coding		2485		chr21	TogoVar
TMEM50B_chr21_33444141_33484974	33446655	C C	CACACAAA others(9): Show CACACAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	10	0.1000	16	c.41 others(27): Show c.4162_*4163insTTTTTTTTTTTTGTGT	TMEM50B	ENSG00000142188.17	transcript	ENST00000542230.7	protein_coding		2485		chr21	TogoVar
TMEM50B_chr21_33444141_33484974	33446655	C C	CACACACA others(9): Show CACACACAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	10	0.1000	16	c.41 others(27): Show c.4162_*4163insTTTTTTTTTTGTGTGT	TMEM50B	ENSG00000142188.17	transcript	ENST00000542230.7	protein_coding		2485		chr21	TogoVar
TMEM50B_chr21_33444141_33484974	33464804	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp2 HG01256.hp2 others(5): Show HG00323.hp1 HG01069.hp2 HG01256.hp2 HG02602.hp2 HG03654.hp2 NA18974.hp1 NA18982.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0096 a0001c0001t0004g0102 a0001c0001t0004g0113 others(5): Show a0001c0001t0004g0096 a0001c0001t0004g0102 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0121	8	55	0.1455	16	c.280 others(31): Show c.280+522_280+537dupTTTTTTTTTTTTTTTT	TMEM50B	ENSG00000142188.17	transcript	ENST00000542230.7	protein_coding	4/6			chr21	TogoVar
TMEM51_chr1_15148747_15225478	15189213	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01069.hp2 HG01167.hp1 others(6): Show HG00642.hp2 HG01069.hp2 HG01167.hp1 HG01175.hp1 HG01928.hp1 HG01952.hp1 HG02148.hp1 HG03017.hp1 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0006 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0003 a0001c0005t0003	a0001c0001t0001g0197 a0001c0001t0006g0100 a0001c0002t0003g0157 others(6): Show a0001c0001t0001g0197 a0001c0001t0006g0100 a0001c0002t0003g0157 a0001c0002t0003g0164 a0001c0002t0003g0202 a0001c0002t0003g0207 a0001c0002t0003g0208 a0001c0002t0003g0209 a0001c0005t0003g0238	9	186	0.0484	16	c.-26 others(37): Show c.-266-21270_-266-21255dupTTTTTTTTTTTTTTTT	TMEM51	ENSG00000171729.14	transcript	ENST00000376008.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
TMEM51_chr1_15148747_15225478	15193575	C C	CTTTCTTT others(9): Show CTTTCTTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0046 a0001c0003t0046	a0001c0003t0046g0054 a0001c0003t0046g0054	1	30	0.0333	16	c.-26 others(37): Show c.-266-16912_-266-16911insCTTTCTTTTTTTTTTT	TMEM51	ENSG00000171729.14	transcript	ENST00000376008.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
TMEM52B_chr12_10174032_10196804	10188491	G G	GGGAAGGA others(9): Show GGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG03195.hp2 others(1): Show HG02559.hp1 HG02572.hp2 HG03195.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012	a0001c0001t0003g0103 a0001c0001t0004g0106 a0001c0001t0004g0108 others(1): Show a0001c0001t0003g0103 a0001c0001t0004g0106 a0001c0001t0004g0108 a0001c0001t0012g0107	4	408	0.0098	16	c.308 others(33): Show c.308-1372_308-1357dupGGAAGGAAGGAAGGAA	TMEM52B	ENSG00000165685.9	transcript	ENST00000543484.2	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM53_chr1_44648247_44679481	44670169	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02027.hp1 HG02055.hp1 others(7): Show HG00408.hp1 HG02027.hp1 HG02055.hp1 HG02135.hp1 HG02257.hp2 HG02738.hp2 HG03209.hp2 NA18966.hp2 NA18995.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0065 a0001c0001t0001g0077 others(6): Show a0001c0001t0001g0023 a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0093	10	183	0.0546	16	c.61+ others(31): Show c.61+4161_61+4162insTTTTTTTTTTTTTTTT	TMEM53	ENSG00000126106.14	transcript	ENST00000372237.8	protein_coding	1/2			chr1	TogoVar
TMEM53_chr1_44648247_44679481	44670169	T T	TTAAAAAA others(9): Show TTAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	174	0.0057	16	c.61+ others(31): Show c.61+4161_61+4162insTTTTTTTTTTTTTTTA	TMEM53	ENSG00000126106.14	transcript	ENST00000372237.8	protein_coding	1/2			chr1	TogoVar
TMEM53_chr1_44648247_44679481	44674947	C C	CTGGATGG others(9): Show CTGGATGGATGGATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	192	0.0052	16	c.-57 others(25): Show c.-572_-557dupTCCATCCATCCATCCA	TMEM53	ENSG00000126106.14	transcript	ENST00000372237.8	protein_coding		467		chr1	TogoVar
TMEM59L_chr19_18607870_18626039	18624407	T T	TTATTTAT others(9): Show TTATTTATGTATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0002 a0004c0007t0001g0002	1	298	0.0034	16	c.38 others(27): Show c.3871_*3872insTATTTATGTATGTATG	TMEM59L	ENSG00000105696.9	transcript	ENST00000262817.8	protein_coding		3369		chr19	TogoVar
TMEM61_chr1_54975628_54997288	54996837	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA19043.hp1 NA19054.hp1 NA18963.hp2 NA19043.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0075 a0001c0001t0002g0006 a0001c0001t0001g0075 a0001c0001t0002g0006	3	268	0.0112	16	c.47 others(27): Show c.4734_*4735insTTTTTTTTTTTTTTTT	TMEM61	ENSG00000143001.5	transcript	ENST00000371268.4	protein_coding		4550		chr1	TogoVar
TMEM62_chr15_43128586_43190144	43165831	A A	AGTTCATT others(9): Show AGTTCATTGAGCTTCCT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	342	0.0029	16	c.129 others(35): Show c.1297-3761_1297-3746dupGTTCATTGAGCTTCCT	TMEM62	ENSG00000137842.7	transcript	ENST00000260403.7	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
TMEM63A_chr1_225840536_225887380	225857381	G G	GGGGGGGG others(9): Show GGGGGGGGGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00673.hp1 HG02630.hp2 others(7): Show HG00408.hp2 HG00673.hp1 HG02630.hp2 HG02970.hp1 HG03486.hp1 HG03579.hp2 NA18969.hp1 NA18989.hp1 NA19058.hp1 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0007c0010 a0001c0002 a0007c0010	a0001c0002t0003 a0007c0010t0002 a0001c0002t0003 a0007c0010t0002	a0001c0002t0003g0007 a0001c0002t0003g0143 a0001c0002t0003g0151 others(7): Show a0001c0002t0003g0007 a0001c0002t0003g0143 a0001c0002t0003g0151 a0001c0002t0003g0288 a0001c0002t0003g0289 a0001c0002t0003g0291 a0001c0002t0003g0297 a0001c0002t0003g0300 a0001c0002t0003g0309 a0007c0010t0002g0022	10	256	0.0391	16	c.137 others(33): Show c.1378-365_1378-364insGCCCCCCCCCCCCCCC	TMEM63A	ENSG00000196187.12	transcript	ENST00000366835.8	protein_coding	15/24			chr1	TogoVar
TMEM63A_chr1_225840536_225887380	225857383	G G	GGGGGGGG others(9): Show GGGGGGGGGGGGGCGGC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0301 a0001c0002t0003g0301	1	421	0.0024	16	c.137 others(33): Show c.1378-367_1378-366insGCCGCCCCCCCCCCCC	TMEM63A	ENSG00000196187.12	transcript	ENST00000366835.8	protein_coding	15/24			chr1	TogoVar
TMEM63B_chr6_44122554_44160519	44138736	G G	GCCCCCCC others(9): Show GCCCCCCCACCCCCCCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03209.hp1 NA19043.hp1 HG02145.hp1 HG03209.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0110 a0001c0001t0005g0020 a0001c0001t0005g0110	3	197	0.0152	16	c.407 others(31): Show c.407+226_407+227insACCCCCCCCCCCCCCC	TMEM63B	ENSG00000137216.19	transcript	ENST00000323267.11	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM63B_chr6_44122554_44160519	44138736	G G	GCCCCCCC others(9): Show GCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03516.hp1 NA19043.hp2 HG02559.hp1 HG03516.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0105 a0001c0001t0005g0017 a0001c0001t0005g0105	3	197	0.0152	16	c.407 others(31): Show c.407+226_407+227insCCCCCCCCCCCCCCCC	TMEM63B	ENSG00000137216.19	transcript	ENST00000323267.11	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM63B_chr6_44122554_44160519	44138736	G G	GTCCCCCC others(9): Show GTCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01952.hp2 HG02293.hp2 others(2): Show HG01175.hp2 HG01952.hp2 HG02293.hp2 NA18975.hp1 NA18997.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0011 a0002c0002t0002 a0002c0002t0004 a0002c0002t0011	a0002c0002t0002g0010 a0002c0002t0002g0134 a0002c0002t0004g0004 others(2): Show a0002c0002t0002g0010 a0002c0002t0002g0134 a0002c0002t0004g0004 a0002c0002t0004g0025 a0002c0002t0011g0187	5	199	0.0251	16	c.407 others(31): Show c.407+219_407+220insTCCCCCCCCCCCCCCC	TMEM63B	ENSG00000137216.19	transcript	ENST00000323267.11	protein_coding	6/23			chr6	TogoVar
TMEM63C_chr14_77176798_77264495	77179161	T T	TTCTTTCT others(9): Show TTCTTTCTTTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG03239.hp1 HG01123.hp2 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0010 a0001c0003t0030 a0001c0002t0010 a0001c0003t0030	a0001c0002t0010g0026 a0001c0003t0030g0103 a0001c0002t0010g0026 a0001c0003t0030g0103	2	215	0.0093	16	c.-28 others(27): Show c.-2810_-2809insTCTTTCTTTTTCTTTC	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding		2636		chr14	TogoVar
TMEM63C_chr14_77176798_77264495	77186793	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	208	0.0048	16	c.-77 others(33): Show c.-77+4906_-77+4907insGTGTGTGTCTGTGTGT	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM63C_chr14_77176798_77264495	77186797	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02717.hp1 others(4): Show HG02109.hp2 HG02280.hp1 HG02717.hp1 HG02970.hp1 HG03225.hp2 HG03453.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0004 a0001c0004t0008 others(1): Show a0001c0001t0004 a0001c0004t0004 a0001c0004t0008 a0001c0004t0024	a0001c0001t0004g0122 a0001c0004t0004g0003 a0001c0004t0004g0119 others(4): Show a0001c0001t0004g0122 a0001c0004t0004g0003 a0001c0004t0004g0119 a0001c0004t0004g0120 a0001c0004t0004g0228 a0001c0004t0008g0121 a0001c0004t0024g0003	7	293	0.0239	16	c.-77 others(33): Show c.-77+4906_-77+4907insGTGTGTGTGTGTCTGT	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM63C_chr14_77176798_77264495	77194493	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0290 a0001c0001t0008g0290	1	272	0.0037	16	c.-77 others(35): Show c.-77+12645_-77+12660dupTTCTTTCTTTCTTTCT	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM63C_chr14_77176798_77264495	77194499	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0264 a0001c0007t0001g0264	1	319	0.0031	16	c.-77 others(35): Show c.-77+12606_-77+12607insTTCTTTCTTTCTTTCT	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM63C_chr14_77176798_77264495	77194553	C C	CTTTCTTT others(9): Show CTTTCTTTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0222 a0001c0003t0004g0222	1	47	0.0213	16	c.-77 others(35): Show c.-77+12660_-77+12661insTTCTTTTTCTTTCTTT	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM63C_chr14_77176798_77264495	77194553	C C	CTTTTTCT others(9): Show CTTTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02897.hp1 others(2): Show HG02486.hp2 HG02559.hp1 HG02897.hp1 HG02922.hp1 HG03704.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0008 a0001c0001 a0001c0002 a0003c0008	a0001c0001t0008 a0001c0001t0036 a0001c0001t0038 others(2): Show a0001c0001t0008 a0001c0001t0036 a0001c0001t0038 a0001c0002t0005 a0003c0008t0004	a0001c0001t0008g0234 a0001c0001t0036g0307 a0001c0001t0038g0259 others(2): Show a0001c0001t0008g0234 a0001c0001t0036g0307 a0001c0001t0038g0259 a0001c0002t0005g0235 a0003c0008t0004g0306	5	51	0.0980	16	c.-77 others(35): Show c.-77+12660_-77+12661insTTTTCTTTCTTTCTTT	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM63C_chr14_77176798_77264495	77215614	A A	AAAAAAGA others(9): Show AAAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02074.hp2 HG02109.hp1 others(10): Show HG01243.hp1 HG02074.hp2 HG02109.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02818.hp2 HG02922.hp2 HG02976.hp1 HG03453.hp1 HG03942.hp1 NA18979.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0017 a0001c0001 a0001c0005 a0001c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0005t0004 a0001c0017t0006	a0001c0001t0001g0035 a0001c0001t0001g0068 a0001c0001t0004g0192 others(10): Show a0001c0001t0001g0035 a0001c0001t0001g0068 a0001c0001t0004g0192 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0218 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0009g0213 a0001c0001t0012g0193 a0001c0005t0004g0183 a0001c0017t0006g0057	13	42	0.3095	16	c.-14 others(33): Show c.-14+2110_-14+2111insAGAAAAGAAAAGAAAA	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM63C_chr14_77176798_77264495	77215614	A A	AGAAAAGA others(9): Show AGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02074.hp1 NA18944.hp1 others(5): Show HG02015.hp1 HG02074.hp1 NA18944.hp1 NA18959.hp2 NA18975.hp1 NA19002.hp2 NA19007.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(5): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0265	8	37	0.2162	16	c.-14 others(33): Show c.-14+2106_-14+2107insGAAAAGAAAAGAAAAG	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	2/23			chr14	TogoVar
TMEM63C_chr14_77176798_77264495	77221151	T T	TCCCTTCC others(9): Show TCCCTTCCCACCCACGC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02602.hp1 HG04204.hp1 others(8): Show HG00544.hp2 HG02602.hp1 HG04204.hp1 NA18947.hp2 NA18970.hp2 NA18979.hp2 NA18999.hp2 NA19012.hp1 NA19060.hp1 NA19065.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0017 a0001c0001 a0001c0011 a0001c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0011t0001 a0001c0017t0006	a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0102 others(8): Show a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0102 a0001c0001t0001g0170 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0288 a0001c0001t0005g0072 a0001c0001t0005g0082 a0001c0011t0001g0028 a0001c0017t0006g0057	11	319	0.0345	16	c.312 others(33): Show c.312+1067_312+1068insTTCCCACCCACGCCCC	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr14	TogoVar

Search by Variant

Search

Search Results