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
CNTNAP4_chr16_76272401_76565757	76522634	C C	CTTCCTTC others(21): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0011 a0002c0002t0002g0011	1	168	0.0060	28	c.275 others(45): Show c.2755+380_2755+381insCTTCCTTCCTTCCTTCCTTCCTTCTTTC	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124485631	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp1 HG02922.hp1 others(2): Show HG02257.hp1 HG02717.hp1 HG02922.hp1 HG03139.hp1 HG03471.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0007 a0001c0002 a0004c0007	a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 others(2): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 a0001c0002t0012 a0004c0007t0001	a0001c0002t0002g0031 a0001c0002t0005g0045 a0001c0002t0010g0032 others(2): Show a0001c0002t0002g0031 a0001c0002t0005g0045 a0001c0002t0010g0032 a0001c0002t0012g0018 a0004c0007t0001g0017	5	47	0.1064	28	c.106 others(49): Show c.1062+10752_1062+10753insAAAAAAAAAAAAAAAAAAGAAGAA GAAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124571527	C C	CTTTTTCT others(21): Show CTTTTTCTTTTTCTCTTTGTTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	7	0.1429	28	c.175 others(47): Show c.1756+8209_1756+8210insCTTTTTCTCTTTGTTTTCTTTTTTTT TT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124625427	C C	CATAGTAT others(21): Show CATAGTATACTTACTACAGTATACATAGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03130.hp2 HG03486.hp2 others(1): Show HG02145.hp2 HG03130.hp2 HG03486.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0004 a0001c0001t0018 a0001c0002t0001 others(1): Show a0001c0001t0004 a0001c0001t0018 a0001c0002t0001 a0002c0008t0001	a0001c0001t0004g0052 a0001c0001t0018g0021 a0001c0002t0001g0064 others(1): Show a0001c0001t0004g0052 a0001c0001t0018g0021 a0001c0002t0001g0064 a0002c0008t0001g0039	4	62	0.0645	28	c.187 others(49): Show c.1876+15517_1876+15544dupTTACTACAGTATACATAGTATAGT ATAC	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124655937	G G	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	51	0.0196	28	c.207 others(47): Show c.2077+7982_2077+7983insAAGAAAGAAAGAAAGAAAGAAAGAAA GA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124812135	T T	TTTATATA others(21): Show TTTATATATTATATAATATATAATTTATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02897.hp2 NA19000.hp1 HG01261.hp1 HG02897.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0024 a0001c0001t0002g0049 a0001c0002t0002g0035 a0001c0001t0002g0024 a0001c0001t0002g0049 a0001c0002t0002g0035	3	62	0.0484	28	c.321 others(49): Show c.3217+13837_3217+13838insTTTATATTATATATTATATAATAT ATAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124871277	C C	CTTATTTA others(21): Show CTTATTTATTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02970.hp1 NA19240.hp2 HG02886.hp1 HG02970.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002	a0001c0001t0003g0006 a0001c0002t0001g0064 a0001c0002t0002g0060 a0001c0001t0003g0006 a0001c0002t0001g0064 a0001c0002t0002g0060	3	47	0.0638	28	c.343 others(47): Show c.3436+1518_3436+1519insTTTATTTATTTATTTATTTATTTATT TA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124871281	C C	CTTATTTA others(21): Show CTTATTTATTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	26	0.0385	28	c.343 others(47): Show c.3436+1533_3436+1534insATTTATTTATTTATTTATTTATTTAT TT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COA1_chr7_43634257_43734523	43644740	A A	AGATAGAT others(21): Show AGATAGATAGATAGATAGATAGATAGATG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02976.hp2 HG01261.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0001g0251 a0001c0001t0001g0256	2	363	0.0055	28	c.264 others(43): Show c.264+510_264+511insCATCTATCTATCTATCTATCTATCTATC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43644740	A A	AGATAGAT others(21): Show AGATAGATAGATAGATAGATAGATGGATG	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18971.hp2 NA19054.hp1 HG00438.hp1 NA18971.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0274 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0274	3	364	0.0082	28	c.264 others(43): Show c.264+510_264+511insCATCCATCTATCTATCTATCTATCTATC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43644799	C C	CAGAGAGA others(21): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	210	0.0048	28	c.264 others(43): Show c.264+424_264+451dupCTCTCTCTCTCTCTCTCTCTCTCTCTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43644817	G G	GAGAGAGA others(21): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01256.hp2 HG01258.hp1 HG00735.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0356 a0001c0001t0001g0006 a0001c0001t0001g0356	3	360	0.0083	28	c.264 others(43): Show c.264+433_264+434insGTCTCTCTCTCTCTCTCTCTCTCTCTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43664103	A A	AAGAGAGA others(21): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp1 HG01175.hp1 others(4): Show HG00733.hp2 HG00738.hp1 HG01175.hp1 HG01243.hp1 HG02572.hp2 HG04199.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0125 a0001c0001t0001g0126 others(4): Show a0001c0001t0001g0068 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0242	7	97	0.0722	28	c.-38 others(47): Show c.-38-15479_-38-15452dupCTCTCTCTCTCTCTCTCTCTCTCTCT CT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43710375	A A	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0372 a0001c0001t0001g0372	1	82	0.0122	28	c.-39 others(47): Show c.-39+19053_-39+19054insATATATATATATATATATATATTTTT TT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COBLL1_chr2_164675188_164846823	164818769	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0062	a0001c0002t0062g0029 a0001c0002t0062g0029	1	191	0.0052	28	c.41+ others(45): Show c.41+22386_41+22387insATATATATATATATATATATATATATAT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51070392	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA19064.hp2 HG02004.hp1 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0004 a0001c0005 a0002c0004	a0001c0005t0003 a0002c0004t0001 a0001c0005t0003 a0002c0004t0001	a0001c0005t0003g0088 a0002c0004t0001g0192 a0001c0005t0003g0088 a0002c0004t0001g0192	2	83	0.0241	28	c.109 others(49): Show c.1096+14746_1096+14773dupGTGTGTGTGTGTGTGTGTGTGTGT GTGT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51098224	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01433.hp1 HG01934.hp2 others(12): Show HG01074.hp2 HG01433.hp1 HG01934.hp2 HG02004.hp2 HG02280.hp1 HG02683.hp2 HG03516.hp2 HG03669.hp1 HG04199.hp1 HG04204.hp2 NA18612.hp2 NA18995.hp2 NA19007.hp1 NA20300.hp1 NA21309.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0013	a0001c0006 a0001c0007 a0001c0010 others(8): Show a0001c0006 a0001c0007 a0001c0010 a0001c0018 a0001c0019 a0001c0020 a0001c0037 a0001c0065 a0003c0011 a0004c0060 a0013c0041	a0001c0006t0003 a0001c0007t0001 a0001c0010t0007 others(9): Show a0001c0006t0003 a0001c0007t0001 a0001c0010t0007 a0001c0018t0003 a0001c0019t0001 a0001c0020t0003 a0001c0037t0001 a0001c0065t0001 a0003c0011t0001 a0003c0011t0002 a0004c0060t0008 a0013c0041t0002	a0001c0006t0003g0039 a0001c0006t0003g0183 a0001c0007t0001g0175 others(12): Show a0001c0006t0003g0039 a0001c0006t0003g0183 a0001c0007t0001g0175 a0001c0007t0001g0178 a0001c0010t0007g0012 a0001c0018t0003g0170 a0001c0019t0001g0032 a0001c0020t0003g0034 a0001c0020t0003g0222 a0001c0037t0001g0173 a0001c0065t0001g0060 a0003c0011t0001g0013 a0003c0011t0002g0070 a0004c0060t0008g0062 a0013c0041t0002g0139	15	98	0.1531	28	c.958 others(47): Show c.958-12921_958-12920insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COCH_chr14_30869559_30895618	30882120	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01981.hp1 HG00738.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0140 a0001c0001t0002g0086 a0001c0001t0002g0140	2	117	0.0171	28	c.629 others(45): Show c.629+1413_629+1414insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	COCH	ENSG00000100473.18	transcript	ENST00000396618.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
COG6_chr13_39650662_39757628	39706261	A A	ATATATAT others(21): Show ATATATATATATATATATATATACTCCTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG02293.hp1 others(4): Show HG00642.hp2 HG00738.hp2 HG02293.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 others(4): Show a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0004g0195	7	366	0.0191	28	c.128 others(47): Show c.1284+6660_1284+6661insATATACTCCTTTATATATATATATAT AT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL12A1_chr6_75079326_75211053	75140655	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0005 a0001c0019t0005	a0001c0019t0005g0048 a0001c0019t0005g0048	1	136	0.0074	28	c.495 others(47): Show c.4957+1376_4957+1377insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding	27/65			chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208150	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0007 a0012c0020t0007	a0012c0020t0007g0047 a0012c0020t0007g0047	1	203	0.0049	28	c.-24 others(39): Show c.-2410_-2409insAAGAGAGAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2098		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208152	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	198	0.0051	28	c.-24 others(39): Show c.-2412_-2411insAAGAGAGAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2100		chr6	TogoVar
COL13A1_chr10_69796906_69964144	69810376	G G	GAGAGAGA others(21): Show GAGAGAGAGAGAGAGAGAGACACAGAGAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0001 a0002c0030t0001	a0002c0030t0001g0309 a0002c0030t0001g0309	1	240	0.0042	28	c.294 others(45): Show c.294+7664_294+7665insGAGAGAGAGAGAGACACAGAGACAGAGA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL14A1_chr8_120120102_120378573	120173564	C C	CATCTATC others(21): Show CATCTATCTATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01243.hp2 HG01884.hp1 others(8): Show HG00544.hp2 HG01243.hp2 HG01884.hp1 HG01952.hp2 HG02129.hp2 HG02602.hp1 HG06807.hp1 NA19004.hp1 NA19004.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0001 a0001c0003 a0001c0021 others(4): Show a0001c0001 a0001c0003 a0001c0021 a0002c0002 a0004c0008 a0004c0009 a0010c0023	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0021t0002 a0002c0002t0001 a0002c0002t0002 a0004c0008t0008 a0004c0009t0002 a0010c0023t0001	a0001c0001t0001g0059 a0001c0001t0003g0084 a0001c0003t0001g0029 others(8): Show a0001c0001t0001g0059 a0001c0001t0003g0084 a0001c0003t0001g0029 a0001c0003t0002g0002 a0001c0003t0002g0092 a0001c0021t0002g0190 a0002c0002t0001g0120 a0002c0002t0002g0127 a0004c0008t0008g0217 a0004c0009t0002g0054 a0010c0023t0001g0079	11	102	0.1078	28	c.436 others(45): Show c.436+5340_436+5341insTATCTATCTATCTATCTATCTATCTATC	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	5/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL14A1_chr8_120120102_120378573	120202989	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0209 a0002c0002t0001g0209	1	21	0.0476	28	c.878 others(43): Show c.878-715_878-688dupATATATATATATATATATATATATATAT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	8/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL15A1_chr9_98938907_99075787	98950590	T T	TCCTTCCT others(21): Show TCCTTCCTTCCTTCCTTCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0009 a0009	a0009c0075 a0009c0075	a0009c0075t0007 a0009c0075t0007	a0009c0075t0007g0002 a0009c0075t0007g0002	1	171	0.0058	28	c.100 others(45): Show c.100+6343_100+6344insTCCTTCCTTCCTTCCTCCCTCCCTCCCT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL15A1_chr9_98938907_99075787	98950590	T T	TCCTTCCT others(21): Show TCCTTCCTTCCTTCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG03195.hp1 HG01884.hp1 HG02280.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0050 a0001c0001t0002g0308 a0002c0003t0002g0012 a0001c0001t0002g0050 a0001c0001t0002g0308 a0002c0003t0002g0012	3	173	0.0173	28	c.100 others(45): Show c.100+6343_100+6344insTCCTTCCTTCCTTCCTTCCTCCCTCCCT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL15A1_chr9_98938907_99075787	98950590	T T	TCCTTCCT others(21): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03540.hp1 HG02895.hp2 HG03540.hp1	a0004 a0007 a0004 a0007	a0004c0005 a0007c0008 a0004c0005 a0007c0008	a0004c0005t0001 a0007c0008t0002 a0004c0005t0001 a0007c0008t0002	a0004c0005t0001g0307 a0007c0008t0002g0306 a0004c0005t0001g0307 a0007c0008t0002g0306	2	172	0.0116	28	c.100 others(45): Show c.100+6343_100+6344insTCCTTCCTTCCTTCCTTCCTTCCTCCCT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL15A1_chr9_98938907_99075787	99066599	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0001 a0011c0020t0001	a0011c0020t0001g0131 a0011c0020t0001g0131	1	104	0.0096	28	c.365 others(45): Show c.3652-258_3652-257insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	39/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL16A1_chr1_31647263_31709017	31707385	T T	TTTTCTTT others(21): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0078 a0002c0004t0001g0078	1	199	0.0050	28	c.-35 others(39): Show c.-3584_-3583insGAAAGAAAAGAAAAGAAAAGAAAAGAAA	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding		3369		chr1	TogoVar
COL18A1_chr21_45400165_45518720	45405287	G G	GCTGCGGG others(21): Show GCTGCGGGGGCTGCGGGGCTGCGGGGGTC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03688.hp2 HG03540.hp2 HG03688.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0205 a0001c0003t0001g0206	2	94	0.0213	28	c.11+ others(39): Show c.11+55_11+56insCTGCGGGGCTGCGGGGGTCCTGCGGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	1/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45437463	C C	CACAGGCA others(21): Show CACAGGCACTCTCCTGCACACACACACAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03041.hp1 HG02965.hp1 HG03041.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0002 a0002c0021t0002	a0002c0021t0002g0001 a0002c0021t0002g0135 a0002c0021t0002g0001 a0002c0021t0002g0135	2	280	0.0071	28	c.107 others(47): Show c.107-30757_107-30756insACACAGACAGGCACTCTCCTGCACAC AC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45490467	T T	TGGGTTCC others(21): Show TGGGTTCCTGGGCCTCCATGTGCCCTCCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp1 HG02895.hp1 HG02559.hp1 HG02630.hp1 HG02895.hp1	a0011 a0012 a0011 a0012	a0011c0099 a0012c0037 a0011c0099 a0012c0037	a0011c0099t0004 a0012c0037t0009 a0011c0099t0004 a0012c0037t0009	a0011c0099t0004g0199 a0012c0037t0009g0200 a0012c0037t0009g0201 a0011c0099t0004g0199 a0012c0037t0009g0200 a0012c0037t0009g0201	3	247	0.0121	28	c.203 others(45): Show c.2031+125_2031+126insTCCTGGGCCTCCATGTGCCCTCCCGGGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	20/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45490472	C C	CCCTGGGC others(21): Show CCCTGGGCCTCCATGTGCCCTCGTGGGTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0052 a0001c0052	a0001c0052t0002 a0001c0052t0002	a0001c0052t0002g0055 a0001c0052t0002g0055	1	281	0.0036	28	c.203 others(45): Show c.2031+137_2031+138insATGTGCCCTCGTGGGTTCCTGGGCCTCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	20/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45500153	A A	ATGTGGGT others(21): Show ATGTGGGTGTGTAGTGTGGGGGTGTATAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03098.hp1 HG02257.hp1 HG03098.hp1	a0003 a0019 a0003 a0019	a0003c0097 a0019c0067 a0003c0097 a0019c0067	a0003c0097t0001 a0019c0067t0001 a0003c0097t0001 a0019c0067t0001	a0003c0097t0001g0037 a0019c0067t0001g0012 a0003c0097t0001g0037 a0019c0067t0001g0012	2	290	0.0069	28	c.268 others(47): Show c.2683+2504_2683+2531dupAGTGTGGGGGTGTATAGTGTGGGTGT GT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69921481	T T	TATATATT others(21): Show TATATATTCATATATATTCATATATATTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0146 a0001c0008t0004g0146	1	42	0.0238	28	c.267 others(45): Show c.267-6423_267-6396dupATTCATATATATTCATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL20A1_chr20_63288186_63339806	63339738	A A	ACATCATA others(21): Show ACATCATATCCACACAGATGAATGAATTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01074.hp1 HG01358.hp1 others(1): Show HG00642.hp2 HG01074.hp1 HG01358.hp1 NA19043.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0006c0010t0001 a0001c0001t0001 a0006c0010t0001	a0001c0001t0001g0083 a0006c0010t0001g0190 a0006c0010t0001g0191 others(1): Show a0001c0001t0001g0083 a0006c0010t0001g0190 a0006c0010t0001g0191 a0006c0010t0001g0192	4	288	0.0139	28	c.90 others(39): Show c.9022_*9023insCATCATATCCACACAGATGAATGAATTG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding		4933		chr20	TogoVar
COL21A1_chr6_56051590_56252580	56098596	T T	TATATATA others(21): Show TATATATAAATATATAAATATATATATAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0020 a0011c0021t0020	a0011c0021t0020g0095 a0011c0021t0020g0095	1	258	0.0039	28	c.181 others(47): Show c.1812+2875_1812+2876insTTATATATATATTTATATATTTATAT AT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56148368	G G	GAGAGAGA others(21): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	254	0.0039	28	c.143 others(47): Show c.1435-6386_1435-6385insTTCTCTCTCTCTCTCTCTCTCTCTCT CT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	10/29			chr6	TogoVar
COL22A1_chr8_138583235_138919041	138643647	T T	TAGATAGA others(21): Show TAGATAGATAGACAGACAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0060 a0002c0060	a0002c0060t0004 a0002c0060t0004	a0002c0060t0004g0107 a0002c0060t0004g0107	1	48	0.0208	28	c.350 others(47): Show c.3501+2981_3501+2982insGTCTGTCTGTCTGTCTGTCTATCTAT CT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	47/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138663012	T T	TCACACAC others(21): Show TCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA20129.hp1 HG03704.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0124 a0001c0002t0002g0044 a0001c0001t0001g0124 a0001c0002t0002g0044	2	82	0.0244	28	c.318 others(45): Show c.3186+692_3186+693insTGTGTGTGTGTGTGTGTGTGTGTGTGTG	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	42/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138663012	T T	TCTCACAC others(21): Show TCTCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02630.hp1 others(5): Show HG02055.hp1 HG02451.hp1 HG02630.hp1 HG02922.hp1 HG03139.hp1 HG03516.hp1 HG06807.hp2 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0012 a0001c0018 a0001c0024 others(4): Show a0001c0012 a0001c0018 a0001c0024 a0001c0026 a0001c0027 a0001c0056 a0004c0040	a0001c0012t0002 a0001c0018t0004 a0001c0024t0004 others(5): Show a0001c0012t0002 a0001c0018t0004 a0001c0024t0004 a0001c0024t0016 a0001c0026t0001 a0001c0027t0002 a0001c0056t0004 a0004c0040t0004	a0001c0012t0002g0061 a0001c0018t0004g0085 a0001c0024t0004g0137 others(5): Show a0001c0012t0002g0061 a0001c0018t0004g0085 a0001c0024t0004g0137 a0001c0024t0016g0158 a0001c0026t0001g0063 a0001c0027t0002g0021 a0001c0056t0004g0040 a0004c0040t0004g0035	8	88	0.0909	28	c.318 others(45): Show c.3186+692_3186+693insTGTGTGTGTGTGTGTGTGTGTGTGTGAG	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	42/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138676413	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA20129.hp1 HG01891.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0028 a0001c0002 a0001c0028	a0001c0002t0002 a0001c0028t0001 a0001c0002t0002 a0001c0028t0001	a0001c0002t0002g0044 a0001c0028t0001g0036 a0001c0002t0002g0044 a0001c0028t0001g0036	2	74	0.0270	28	c.315 others(45): Show c.3150+117_3150+144dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	41/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138676454	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG01106.hp2 others(8): Show HG00642.hp1 HG01081.hp1 HG01106.hp2 HG03492.hp2 HG03579.hp1 HG03704.hp1 HG03834.hp2 HG04199.hp1 HG04199.hp2 NA18906.hp1 NA18944.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0015	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0005 a0002c0007 a0003c0013 a0015c0055	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0002c0003t0003 a0002c0005t0003 a0002c0007t0001 a0003c0013t0003 a0015c0055t0005	a0001c0001t0001g0103 a0001c0001t0001g0119 a0001c0001t0001g0122 others(8): Show a0001c0001t0001g0103 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0002t0001g0017 a0001c0006t0001g0053 a0002c0003t0003g0004 a0002c0005t0003g0007 a0002c0007t0001g0082 a0003c0013t0003g0001 a0015c0055t0005g0150	11	96	0.1146	28	c.315 others(45): Show c.3150+103_3150+104insCCTTTCTTTCTTTCTTTCTTTCTTTCTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	41/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138795528	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0063 a0001c0026t0001g0063	1	69	0.0145	28	c.159 others(47): Show c.1596+1263_1596+1290dupGTGTGTGTGTGTGTGTGTGTGTGTGT GT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	12/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178232828	T T	TCGCCCCG others(21): Show TCGCCCCGCAGGCCCCGCCCCGCAGGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG03540.hp1 HG02922.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0005 a0001c0001t0005 a0002c0002t0005	a0001c0001t0005g0161 a0002c0002t0005g0160 a0001c0001t0005g0161 a0002c0002t0005g0160	2	216	0.0093	28	c.58 others(39): Show c.5869_*5870insGGGCCTGCGGGGCGGGGCCTGCGGGGCG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding		4789		chr5	TogoVar
COL23A1_chr5_178232618_178595393	178249716	A A	ACACACAC others(21): Show ACACACACACACTCACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0160 a0002c0002t0005g0160	1	97	0.0103	28	c.105 others(45): Show c.1059+344_1059+345insAGAGAGAGAGAGAGTGAGTGTGTGTGTG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	18/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178258236	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18522.hp1 NA18906.hp2 HG01934.hp2 NA18522.hp1 NA18906.hp2	a0002 a0002	a0002c0003 a0002c0013 a0002c0003 a0002c0013	a0002c0003t0005 a0002c0013t0003 a0002c0003t0005 a0002c0013t0003	a0002c0003t0005g0115 a0002c0003t0005g0131 a0002c0013t0003g0124 a0002c0003t0005g0115 a0002c0003t0005g0131 a0002c0013t0003g0124	3	136	0.0221	28	c.730 others(43): Show c.730-670_730-669insATATATATATATATATATATATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	12/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178258262	T T	TATATATA others(21): Show TATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0180 a0002c0002t0001g0180	1	138	0.0072	28	c.730 others(43): Show c.730-696_730-695insGTGTGTGTATATATATATATATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	12/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178258262	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01256.hp2 HG01074.hp2 HG01256.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0007 a0002c0002 a0003c0007	a0002c0002t0001 a0003c0007t0001 a0002c0002t0001 a0003c0007t0001	a0002c0002t0001g0052 a0003c0007t0001g0013 a0002c0002t0001g0052 a0003c0007t0001g0013	2	139	0.0144	28	c.730 others(43): Show c.730-696_730-695insGTATATATATATATATATATATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	12/28			chr5	TogoVar

Search by Variant

Search

Search Results