Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MMP20_chr11_102571832_102630332	102601125	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02809.hp1 HG03540.hp1 HG01192.hp1 HG02809.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0124 a0002c0002t0001g0136 a0002c0002t0001g0080 a0002c0002t0001g0124 a0002c0002t0001g0136	3	446	0.0067	29	c.953 others(46): Show c.953+5409_953+5410insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A		MMP20	ENSG00000137674.4	transcript	ENST00000260228.3	protein_coding	6/9						chr11	TogoVar
MMP20_chr11_102571832_102630332	102629485	T T	TAATATAT others(22): Show TAATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	446	0.0022	29	c.-41 others(40): Show c.-4167_-4166insGTATATATATATATATATATATATATATT		MMP20	ENSG00000137674.4	transcript	ENST00000260228.3	protein_coding					4154		chr11	TogoVar
MMP26_chr11_4699784_4997429	4942089	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	206	0.0049	29	c.-14 others(50): Show c.-144-45958_-144-45957insAAAAAAAAAAAAAAAAAAAAAAAA AAAAA		MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
MMP26_chr11_4699784_4997429	4986936	T T	TCTCTCTC others(22): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	206	0.0049	29	c.-14 others(48): Show c.-144-1109_-144-1108insTCTCTCCTCTCTCTCTCTCTCTCTCT CTC		MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
MMP28_chr17_35760865_35800641	35786699	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03017.hp1 NA20905.hp1 HG02735.hp1 HG03017.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048	3	309	0.0097	29	c.112 others(46): Show c.112-7377_112-7376insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		MMP28	ENSG00000271447.6	transcript	ENST00000605424.6	protein_coding	1/7						chr17	TogoVar
MMP2_chr16_55474198_55511691	55509991	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0300 a0003c0012t0001g0301 a0003c0012t0001g0300 a0003c0012t0001g0301	2	452	0.0044	29	c.45 others(40): Show c.4549_*4550insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		MMP2	ENSG00000087245.13	transcript	ENST00000219070.9	protein_coding					3301		chr16	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	414	0.0024	29	c.226 others(46): Show c.226-3489_226-3488insATATATATATATATTTTTTTTTTTTTTT T		MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9						chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01517.hp1 homoSapiens_chm13v2.hp1 HG00099.hp2 HG01517.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0216 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0216	3	414	0.0073	29	c.226 others(46): Show c.226-3489_226-3488insATATATATATATATATATATATTTTTTT T		MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9						chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02293.hp1 HG00597.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0208 a0001c0001t0001g0184 a0001c0001t0001g0208	2	414	0.0048	29	c.226 others(46): Show c.226-3489_226-3488insATATATATATATATATATATATATTTTT T		MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9						chr15	TogoVar
MOB3B_chr9_27320209_27534814	27418091	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0153 a0001c0002t0153	a0001c0002t0153g0148 a0001c0002t0153g0148	1	320	0.0031	29	c.418 others(48): Show c.418+37041_418+37042insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	2/3						chr9	TogoVar
MON2_chr12_62461826_62605476	62534542	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0304 a0001c0002t0037g0304	1	368	0.0027	29	c.163 others(46): Show c.1634-302_1634-301insAAAAAAATATATATATATATATATATAT A		MON2	ENSG00000061987.16	transcript	ENST00000393630.8	protein_coding	12/34					INFO_REALIGN_3_PRIME	chr12	TogoVar
MORC1_chr3_108953248_109123134	109040403	A A	AAAGAAAG others(22): Show AAAGAAAGAAAGAAAGAAAGAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	294	0.0034	29	c.133 others(48): Show c.1331-4936_1331-4935insCTTCCTTCTTCTTTCTTTCTTTCTTT CTT		MORC1	ENSG00000114487.10	transcript	ENST00000232603.10	protein_coding	14/27						chr3	TogoVar
MORC1_chr3_108953248_109123134	109040403	A A	AAAGAAAG others(22): Show AAAGAAAGAAAGAAAGAGAAGAGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	294	0.0034	29	c.133 others(48): Show c.1331-4936_1331-4935insCTTCCTTCTCTTCTCTTTCTTTCTTT CTT		MORC1	ENSG00000114487.10	transcript	ENST00000232603.10	protein_coding	14/27						chr3	TogoVar
MORC1_chr3_108953248_109123134	109040403	A A	AAAGAAAG others(22): Show AAAGAAAGAAAGAGAAGAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG04228.hp1 HG03486.hp1 HG04228.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0232 a0005c0005t0002g0294 a0005c0005t0002g0232 a0005c0005t0002g0294	2	294	0.0068	29	c.133 others(48): Show c.1331-4936_1331-4935insCTTCCTTCCTTCTCTTCTCTTTCTTT CTT		MORC1	ENSG00000114487.10	transcript	ENST00000232603.10	protein_coding	14/27						chr3	TogoVar
MOSMO_chr16_22003111_22089654	22021706	G G	GAGGATCT others(22): Show GAGGATCTCATGAGCCTGGGAGGTGGAGGT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0204 a0001c0001t0004g0204	1	306	0.0033	29	c.106 others(48): Show c.106+13300_106+13328dupAGGATCTCATGAGCCTGGGAGGTGGA GGT		MOSMO	ENSG00000185716.12	transcript	ENST00000542527.7	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr16	TogoVar
MOSMO_chr16_22003111_22089654	22024016	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0227 a0001c0001t0022g0227	1	306	0.0033	29	c.106 others(48): Show c.106+15609_106+15610insATATATATATATATATATATATATAT ATA		MOSMO	ENSG00000185716.12	transcript	ENST00000542527.7	protein_coding	1/2						chr16	TogoVar
MOV10L1_chr22_50085006_50166687	50137803	A A	ATATATAT others(22): Show ATATATATACATATATAAATATACATATTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	400	0.0025	29	c.207 others(48): Show c.2070+3204_2070+3232dupATATATACATATATAAATATACATAT TTT		MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding	15/26					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPDZ_chr9_13100707_13284692	13136325	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0288 a0001c0003t0010g0288	1	302	0.0033	29	c.429 others(46): Show c.4293-144_4293-143insAAAAAAAAAAAAAAAAGAAAAAAAAAAA A		MPDZ	ENSG00000107186.17	transcript	ENST00000319217.12	protein_coding	30/46						chr9	TogoVar
MPDZ_chr9_13100707_13284692	13136325	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA19030.hp2 NA19240.hp1 HG02895.hp2 NA19030.hp2 NA19240.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0025 a0001c0002 a0007c0025	a0001c0002t0001 a0007c0025t0008 a0001c0002t0001 a0007c0025t0008	a0001c0002t0001g0092 a0001c0002t0001g0161 a0007c0025t0008g0178 a0001c0002t0001g0092 a0001c0002t0001g0161 a0007c0025t0008g0178	3	302	0.0099	29	c.429 others(46): Show c.4293-144_4293-143insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A		MPDZ	ENSG00000107186.17	transcript	ENST00000319217.12	protein_coding	30/46						chr9	TogoVar
MPDZ_chr9_13100707_13284692	13236268	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0038 a0001c0003t0005g0038	1	302	0.0033	29	c.183 others(48): Show c.183+11366_183+11367insTATATATATATATATATATATATATA TAT		MPDZ	ENSG00000107186.17	transcript	ENST00000319217.12	protein_coding	3/46						chr9	TogoVar
MPND_chr19_4338562_4365078	4357231	T T	TTTTTTTG others(22): Show TTTTTTTGTTTAGTTTTTTTTGATGGCGTG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0129 a0002c0004t0001g0129	1	422	0.0024	29	c.997 others(42): Show c.997-22_997-21insTTTTTTGTTTAGTTTTTTTTGATGGCGTG		MPND	ENSG00000008382.16	transcript	ENST00000599840.6	protein_coding	8/12						chr19	TogoVar
MPPED1_chr22_43407014_43512848	43432854	G G	GAGAGAGA others(22): Show GAGAGAGAAAGGGAGGAGAGAGAGAGGGAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0223 a0001c0001t0003g0223	1	250	0.0040	29	c.225 others(46): Show c.225-2175_225-2174insGAAAGGGAGGAGAGAGAGAGGGAAAGAG A		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43447859	T T	TTATATAT others(22): Show TTATATATATATATATATAATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0010 a0001c0008t0010	a0001c0008t0010g0064 a0001c0008t0010g0064	1	250	0.0040	29	c.406 others(48): Show c.406+12662_406+12663insATATATATATATATATATATATATAT ATA		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43447883	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	250	0.0040	29	c.406 others(48): Show c.406+12669_406+12670insATATATATATATATATATATATATTT TTT		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43447884	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	250	0.0040	29	c.406 others(48): Show c.406+12669_406+12670insATATATATATATATATATATATATAT ATA		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	3/6						chr22	TogoVar
MPPED1_chr22_43407014_43512848	43463807	T T	TTTTCTTT others(22): Show TTTTCTTTCTTTCTTTTTTTTTTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	250	0.0040	29	c.407 others(48): Show c.407-10914_407-10913insTTTTTTTTTCTTTCTTTCTTTCTTTC TTT		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED2_chr11_30405224_30591353	30485425	A A	AATAACAT others(22): Show AATAACATGTGTAACATTTACACGTTACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00544.hp2 others(67): Show HG00099.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01516.hp1 HG01517.hp1 HG01978.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02257.hp1 HG02273.hp2 HG02698.hp1 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG02976.hp2 HG03130.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03688.hp2 HG04184.hp1 HG04199.hp2 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18951.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18971.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19065.hp1 NA19082.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016	a0001c0001t0001g0036 a0001c0001t0001g0115 a0001c0001t0001g0117 others(66): Show a0001c0001t0001g0036 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0181 a0001c0001t0001g0213 a0001c0001t0001g0236 a0001c0001t0001g0243 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0044 a0001c0001t0002g0059 a0001c0001t0002g0068 a0001c0001t0002g0074 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0180 a0001c0001t0002g0186 a0001c0001t0002g0190 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0210 a0001c0001t0002g0222 a0001c0001t0002g0227 a0001c0001t0002g0241 a0001c0001t0002g0247 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0256 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0095 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0113 a0001c0001t0003g0142 a0001c0001t0003g0198 a0001c0001t0003g0248 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0006g0114 a0001c0001t0008g0087 a0001c0001t0009g0091 a0001c0001t0009g0092 a0001c0001t0013g0112 a0001c0001t0016g0259	70	262	0.2672	29	c.536 others(46): Show c.536+9870_536+9871insGTGTAACGTGTAAATGTTACACATGTTA T		MPPED2	ENSG00000066382.17	transcript	ENST00000358117.10	protein_coding	4/6						chr11	TogoVar
MRGPRG_chr11_3212944_3223813	3216862	C C	CTCTTCTC others(22): Show CTCTTCTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02615.hp1 HG02818.hp1 HG01884.hp2 HG02615.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	3	426	0.0070	29	c.10 others(40): Show c.1081_*1082insAAGAAAGAAAGAAAGAAAGAAAGAGAAGA		MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding					1081		chr11	TogoVar
MRI1_chr19_13759522_13779282	13767861	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 NA18962.hp1 HG01891.hp2 HG02145.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0144 a0001c0001t0002g0324 a0001c0001t0004g0303 a0001c0001t0002g0144 a0001c0001t0002g0324 a0001c0001t0004g0303	3	460	0.0065	29	c.548 others(44): Show c.548-675_548-674insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		MRI1	ENSG00000037757.14	transcript	ENST00000040663.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
MROH1_chr8_144143016_144266926	144203084	G G	GCGTGGGG others(22): Show GCGTGGGGGGGAGCGCCCGCTGTCTGTGGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0051 a0009c0009t0001g0051	1	140	0.0071	29	c.114 others(48): Show c.1141+2543_1141+2544insCGTGGGGGGGAGCGCCCGCTGTCTGT GGA		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43						chr8	TogoVar
MROH1_chr8_144143016_144266926	144203094	G G	GAGCGCCC others(22): Show GAGCGCCCGCTGTCTGTGGAGGGGCGGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0123 a0002c0006t0001g0123	1	140	0.0071	29	c.114 others(48): Show c.1141+2553_1141+2554insAGCGCCCGCTGTCTGTGGAGGGGCGG GGA		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43						chr8	TogoVar
MROH1_chr8_144143016_144266926	144203224	C C	CGGGGGGG others(22): Show CGGGGGGGGGAAGCGCCCGCTGTCTGTGGA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0013 a0013	a0013c0022 a0013c0022	a0013c0022t0001 a0013c0022t0001	a0013c0022t0001g0093 a0013c0022t0001g0093	1	140	0.0071	29	c.114 others(48): Show c.1141+2693_1141+2694insAGCGCCCGCTGTCTGTGGAGGGGGGG GGA		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43					INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH2B_chr5_40993020_41076342	41057563	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18978.hp2 NA18997.hp2 others(3): Show HG03195.hp1 NA18978.hp2 NA18997.hp2 NA19066.hp2 NA19076.hp1 NA19080.hp2	a0004 a0005 a0008 others(2): Show a0004 a0005 a0008 a0021 a0026	a0004c0003 a0005c0008 a0008c0006 others(2): Show a0004c0003 a0005c0008 a0008c0006 a0021c0021 a0026c0040	a0004c0003t0001 a0005c0008t0001 a0008c0006t0001 others(2): Show a0004c0003t0001 a0005c0008t0001 a0008c0006t0001 a0021c0021t0001 a0026c0040t0001	a0004c0003t0001g0230 a0005c0008t0001g0353 a0008c0006t0001g0285 others(3): Show a0004c0003t0001g0230 a0005c0008t0001g0353 a0008c0006t0001g0285 a0021c0021t0001g0354 a0021c0021t0001g0355 a0026c0040t0001g0374	6	396	0.0152	29	c.757 others(44): Show c.757-204_757-203insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		MROH2B	ENSG00000171495.17	transcript	ENST00000399564.5	protein_coding	7/41						chr5	TogoVar
MRO_chr18_50790130_50825016	50817575	C C	CGGGCCTG others(22): Show CGGGCCTGAGCATTGCACTTTTTGTATGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00609.hp1 others(39): Show HG00408.hp1 HG00544.hp1 HG00609.hp1 HG00639.hp2 HG00741.hp2 HG01070.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01261.hp2 HG02257.hp1 HG02818.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18941.hp1 NA18943.hp1 NA18961.hp2 NA18962.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18988.hp1 NA18990.hp1 NA19002.hp2 NA19064.hp2 NA19066.hp1 NA19076.hp1 NA19087.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0011	a0001c0001 a0001c0004 a0001c0006 others(8): Show a0001c0001 a0001c0004 a0001c0006 a0001c0010 a0002c0002 a0002c0003 a0002c0011 a0002c0012 a0002c0020 a0004c0009 a0011c0019	a0001c0001t0007 a0001c0001t0021 a0001c0004t0051 others(16): Show a0001c0001t0007 a0001c0001t0021 a0001c0004t0051 a0001c0006t0007 a0001c0010t0013 a0002c0002t0007 a0002c0002t0012 a0002c0002t0016 a0002c0002t0021 a0002c0003t0010 a0002c0003t0011 a0002c0003t0013 a0002c0003t0050 a0002c0011t0010 a0002c0012t0012 a0002c0012t0016 a0002c0020t0010 a0004c0009t0007 a0011c0019t0031	a0001c0001t0007g0039 a0001c0001t0007g0041 a0001c0001t0007g0053 others(33): Show a0001c0001t0007g0039 a0001c0001t0007g0041 a0001c0001t0007g0053 a0001c0001t0021g0012 a0001c0004t0051g0054 a0001c0006t0007g0040 a0001c0006t0007g0056 a0001c0010t0013g0009 a0001c0010t0013g0052 a0001c0010t0013g0055 a0002c0002t0007g0010 a0002c0002t0007g0063 a0002c0002t0007g0066 a0002c0002t0007g0076 a0002c0002t0012g0002 a0002c0002t0012g0068 a0002c0002t0012g0074 a0002c0002t0012g0075 a0002c0002t0012g0078 a0002c0002t0016g0051 a0002c0002t0016g0070 a0002c0002t0021g0060 a0002c0003t0010g0011 a0002c0003t0010g0064 a0002c0003t0010g0065 a0002c0003t0011g0067 a0002c0003t0011g0069 a0002c0003t0013g0059 a0002c0003t0013g0062 a0002c0003t0050g0061 a0002c0011t0010g0071 a0002c0012t0012g0057 a0002c0012t0016g0058 a0002c0020t0010g0077 a0004c0009t0007g0072 a0011c0019t0031g0073	42	430	0.0977	29	c.-5+ others(44): Show c.-5+1977_-5+2005dupCACATACAAAAAGTGCAATGCTCAGGCCC		MRO	ENSG00000134042.14	transcript	ENST00000398439.8	protein_coding	2/7						chr18	TogoVar
MRPL27_chr17_50362867_50378184	50362955	T T	TTTATTTA others(22): Show TTTATTTATTTATTTTATTTATTTATTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG02683.hp2 HG00741.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	372	0.0054	29	c.51 others(40): Show c.5136_*5137insTAAAATAAATAAATAAAATAAATAAATAA		MRPL27	ENSG00000108826.16	transcript	ENST00000225969.9	protein_coding					4911		chr17	TogoVar
MRPL38_chr17_75893644_75909884	75905749	A A	AGATACAA others(22): Show AGATACAAAAATTTTTGTATCTCTACTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0006 a0006c0014t0006	a0006c0014t0006g0087 a0006c0014t0006g0087	1	354	0.0028	29	c.-87 others(38): Show c.-875_-874insATTAGTAGAGATACAAAAATTTTTGTATC		MRPL38	ENSG00000204316.13	transcript	ENST00000309352.4	protein_coding					866		chr17	TogoVar
MRPL41_chr9_137546879_137557555	137551679	G G	GCCCCCGC others(22): Show GCCCCCGCCCCGCGAGCCCCGCCCCGCGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	29	c.-30 others(38): Show c.-308_-307insCCCCCGCCCCGCGAGCCCCGCCCCGCGAG		MRPL41	ENSG00000182154.8	transcript	ENST00000371443.6	protein_coding					199		chr9	TogoVar
MRPS28_chr8_79913717_80035259	80028645	C C	CGGGCGGG others(22): Show CGGGCGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	300	0.0033	29	c.213 others(46): Show c.213+1390_213+1391insCCCCCCCCCCCCCCCCCCCCCCCCCGCC C		MRPS28	ENSG00000147586.10	transcript	ENST00000276585.9	protein_coding	1/2						chr8	TogoVar
MRPS28_chr8_79913717_80035259	80028649	C C	CGGGGGGG others(22): Show CGGGGGGGGGGGGGGGGGGGGGGGGGGGCG	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	300	0.0033	29	c.213 others(46): Show c.213+1386_213+1387insCGCCCCCCCCCCCCCCCCCCCCCCCCCC C		MRPS28	ENSG00000147586.10	transcript	ENST00000276585.9	protein_coding	1/2						chr8	TogoVar
MRTFA_chr22_40405289_40641719	40498273	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0255 a0001c0002t0001g0255	1	256	0.0039	29	c.242 others(48): Show c.242-34988_242-34987insAAATATATATATATATATATATATAT ATA		MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14					WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSH3_chr5_80649652_80881815	80784212	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	362	0.0028	29	c.243 others(48): Show c.2436-3326_2436-3325insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	17/23					INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH6_chr2_47778145_47811953	47788915	T T	TTTTTTGT others(22): Show TTTTTTGTTTTTTTTTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02965.hp1 HG03139.hp2 HG02559.hp1 HG02965.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281	3	390	0.0077	29	c.261 others(46): Show c.261-2007_261-2006insGTTTTTTTTTTTTGTTTTGTTTTGTTTT T		MSH6	ENSG00000116062.19	transcript	ENST00000234420.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
MSL1_chr17_40116971_40141917	40122983	G G	GGCAAGGC others(22): Show GGCAAGGCTGCCACGGTTTGGGGGGGGGCC	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0001 a0002c0009t0002g0001	1	356	0.0028	29	c.371 others(36): Show c.371_372insGCAAGGCTGCCACGGTTTGGGGGGGGGCC	p.Cys others(5): Show p.Cys125fs	MSL1	ENSG00000188895.12	transcript	ENST00000398532.9	protein_coding	1/9	1014/5035	372/1845	124/614			chr17	TogoVar
MSL1_chr17_40116971_40141917	40140349	C C	CACACACA others(22): Show CACACACACACACACCAACACACACACCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0022 a0001c0002t0003g0022	1	356	0.0028	29	c.59 others(40): Show c.5980_*5981insACACACACACACACCAACACACACACCAA		MSL1	ENSG00000188895.12	transcript	ENST00000398532.9	protein_coding					3433		chr17	TogoVar
MSL2_chr3_136143917_136201335	136189108	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0024 a0001c0001t0007g0024	1	310	0.0032	29	c.142 others(46): Show c.142+5863_142+5864insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		MSL2	ENSG00000174579.5	transcript	ENST00000309993.3	protein_coding	1/1						chr3	TogoVar
MSLN_chr16_755734_773862	767634	C C	CGAGCGGG others(22): Show CGAGCGGGAGGAGGGGCGCGTGGACGGGGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp1 NA21309.hp1 HG02647.hp1 HG02886.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0004 a0002c0003t0002 a0002c0003t0004	a0002c0003t0002g0248 a0002c0003t0002g0249 a0002c0003t0004g0211 a0002c0003t0002g0248 a0002c0003t0002g0249 a0002c0003t0004g0211	3	388	0.0077	29	c.159 others(46): Show c.1596+165_1596+166insAGCGGGAGGAGGGGCGCGTGGACGGGGT G		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767699	G G	GCACGTGG others(22): Show GCACGTGGAGGGGTCGCGTGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0310 a0002c0002t0002g0310	1	388	0.0026	29	c.159 others(46): Show c.1596+229_1596+230insCACGTGGAGGGGTCGCGTGGAGGAGGGG C		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17						chr16	TogoVar
MSLN_chr16_755734_773862	767791	G G	GGGGCGCA others(22): Show GGGGCGCATGGGGGTGCGTGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0202 a0001c0001t0011g0202	1	388	0.0026	29	c.159 others(46): Show c.1596+322_1596+323insGGCGCATGGGGGTGCGTGGAGGAGGGGC G		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767828	G G	GGGGCGTG others(22): Show GGGGCGTGGAGGGGGGCGCGTGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02155.hp1 HG03710.hp2 others(4): Show HG02056.hp1 HG02155.hp1 HG03710.hp2 NA18966.hp1 NA18979.hp2 NA19070.hp1 NA19079.hp2	a0001 a0002 a0022 a0001 a0002 a0022	a0001c0001 a0002c0003 a0022c0036 a0001c0001 a0002c0003 a0022c0036	a0001c0001t0001 a0002c0003t0001 a0022c0036t0001 a0001c0001t0001 a0002c0003t0001 a0022c0036t0001	a0001c0001t0001g0087 a0001c0001t0001g0132 a0001c0001t0001g0148 others(4): Show a0001c0001t0001g0087 a0001c0001t0001g0132 a0001c0001t0001g0148 a0001c0001t0001g0172 a0001c0001t0001g0205 a0002c0003t0001g0059 a0022c0036t0001g0183	7	388	0.0180	29	c.159 others(46): Show c.1596+361_1596+362insCGTGGAGGGGGGCGCGTGGAGGAGGAGG G		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	768042	A A	AGGGGGGG others(22): Show AGGGGGGGCGAGTGGAGGGGGGCGCGTGGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02809.hp1 HG03098.hp2 others(1): Show HG02055.hp1 HG02809.hp1 HG03098.hp2 HG03540.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0004 a0007c0012t0001g0245 a0007c0012t0001g0004 a0007c0012t0001g0245	4	388	0.0103	29	c.159 others(46): Show c.1597-332_1597-331insGGCGAGTGGAGGGGGGCGCGTGGGGGGG G		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar

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Search Results (Total: 6085 hits)