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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MRPL48_chr11_73782874_73870133	73812717	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	336	0.0030	34	c.112 others(51): Show c.112+4391_112+4392insATATATATATATATATATATATATATAT ATATAT	MRPL48	ENSG00000175581.14	transcript	ENST00000310614.12	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MRPL48_chr11_73782874_73870133	73812738	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	336	0.0030	34	c.112 others(51): Show c.112+4391_112+4392insATATATATATATATATATATATATATAT ATTTAT	MRPL48	ENSG00000175581.14	transcript	ENST00000310614.12	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MRPS10_chr6_42201807_42222861	42216385	A A	AGAGAGAG others(27): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	404	0.0025	34	c.48+ others(49): Show c.48+1416_48+1417insACACACACTCTCTCTCTCTCTCTCTCTCTC TCTC	MRPS10	ENSG00000048544.6	transcript	ENST00000053468.4	protein_coding	1/6			chr6	TogoVar
MRPS10_chr6_42201807_42222861	42216385	A A	AGAGAGAG others(27): Show AGAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19084.hp2 NA18966.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0263 a0001c0001t0001g0234 a0001c0001t0001g0263	2	404	0.0050	34	c.48+ others(49): Show c.48+1416_48+1417insACACACACACACACACTCTCTCTCTCTCTC TCTC	MRPS10	ENSG00000048544.6	transcript	ENST00000053468.4	protein_coding	1/6			chr6	TogoVar
MRPS10_chr6_42201807_42222861	42216385	A A	AGAGAGAG others(27): Show AGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00735.hp1 HG02056.hp2 others(5): Show HG00609.hp1 HG00735.hp1 HG02056.hp2 HG02273.hp2 NA18943.hp2 NA18946.hp2 NA18985.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0045 a0001c0001t0001g0212 others(2): Show a0001c0001t0001g0025 a0001c0001t0001g0045 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0275	8	404	0.0198	34	c.48+ others(49): Show c.48+1416_48+1417insACACACACACACACACACTCTCTCTCTCTC TCTC	MRPS10	ENSG00000048544.6	transcript	ENST00000053468.4	protein_coding	1/6			chr6	TogoVar
MRPS10_chr6_42201807_42222861	42216385	A A	AGAGAGAG others(27): Show AGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG01106.hp2 others(7): Show HG00099.hp1 HG00738.hp2 HG01106.hp2 HG01261.hp1 HG01433.hp1 HG03831.hp1 NA19058.hp2 NA19082.hp2 NA19088.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0006 a0001c0001t0001g0136 a0001c0001t0001g0191 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0136 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0006t0001g0277	10	404	0.0248	34	c.48+ others(49): Show c.48+1416_48+1417insACACACACACACACACACACTCTCTCTCTC TCTC	MRPS10	ENSG00000048544.6	transcript	ENST00000053468.4	protein_coding	1/6			chr6	TogoVar
MRPS10_chr6_42201807_42222861	42216385	A A	AGAGAGAG others(27): Show AGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02132.hp2 NA20752.hp1 HG02004.hp1 HG02132.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	3	404	0.0074	34	c.48+ others(49): Show c.48+1416_48+1417insACACACACACACACACACACACTCTCTCTC TCTC	MRPS10	ENSG00000048544.6	transcript	ENST00000053468.4	protein_coding	1/6			chr6	TogoVar
MRPS10_chr6_42201807_42222861	42216385	A A	AGAGAGAG others(27): Show AGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	404	0.0025	34	c.48+ others(49): Show c.48+1416_48+1417insACACACACACACACACACACACACTCTCTC TCTC	MRPS10	ENSG00000048544.6	transcript	ENST00000053468.4	protein_coding	1/6			chr6	TogoVar
MRPS9_chr2_105033069_105104960	105084247	A A	AATATAGA others(27): Show AATATAGATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0036 a0002c0005t0001g0036	1	394	0.0025	34	c.489 others(51): Show c.489+4190_489+4191insGATATATATATATATATATATATATATA TATATA	MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPS9_chr2_105033069_105104960	105084247	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18954.hp1 NA18974.hp2 others(1): Show NA18747.hp2 NA18954.hp1 NA18974.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0193 a0001c0001t0001g0216 others(1): Show a0001c0001t0001g0182 a0001c0001t0001g0193 a0001c0001t0001g0216 a0001c0001t0001g0223	4	394	0.0102	34	c.489 others(51): Show c.489+4207_489+4208insATATATATATATATATATATATATATAT ATATAT	MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
MS4A14_chr11_60391459_60422756	60419037	A A	ATGTATAT others(27): Show ATGTATATATATATATATATATATATATATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	428	0.0023	34	c.20 others(45): Show c.2029_*2030insTGTATATATATATATATATATATATATATGTATG	MS4A14	ENSG00000166928.11	transcript	ENST00000300187.11	protein_coding		1282		chr11	TogoVar
MSH2_chr2_47398156_47488223	47434523	A A	AGGGAGAG others(27): Show AGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19043.hp2 HG03225.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0267 a0001c0001t0001g0011 a0001c0001t0001g0267	2	370	0.0054	34	c.127 others(53): Show c.1276+4611_1276+4612insCCGTGGGGAGAGGGAGACCGTGGGGA GAGGGAGA	MSH2	ENSG00000095002.15	transcript	ENST00000233146.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH3_chr5_80649652_80881815	80692583	G G	GATAAACA others(27): Show GATAAACATGTATATGTTTATATAGATGAATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02615.hp2 HG02622.hp2 others(4): Show HG02074.hp1 HG02615.hp2 HG02622.hp2 HG03831.hp1 NA18971.hp1 NA19007.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0043 a0001c0001t0002g0059 a0001c0001t0002g0080 others(4): Show a0001c0001t0002g0043 a0001c0001t0002g0059 a0001c0001t0002g0080 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0008g0317 a0001c0001t0008g0320	7	362	0.0193	34	c.134 others(55): Show c.1340+13514_1340+13547dupGATGAATATATATAAACATGTATA TGTTTATATA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80692676	T T	TTATGTTT others(27): Show TTATGTTTATATAGATAAATATACATACACATGTA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0007 a0004c0005t0007	a0004c0005t0007g0290 a0004c0005t0007g0290	1	362	0.0028	34	c.134 others(55): Show c.1340+13626_1340+13659dupTATAGATAAATATACATACACATG TATATGTTTA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80693317	G G	GTTTATAT others(27): Show GTTTATATAGATAAATATACATGCACATGTATATA	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0008 a0006c0007t0008	a0006c0007t0008g0243 a0006c0007t0008g0243	1	362	0.0028	34	c.134 others(55): Show c.1340+14257_1340+14258insATTTATATAGATAAATATACATGC ACATGTATAT	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80810172	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0217 a0002c0003t0003g0217	1	362	0.0028	34	c.265 others(53): Show c.2656-3389_2656-3388insTATATATATATATATATATATATATA TATATATA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH4_chr1_75791882_75918242	75854013	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02056.hp2 NA19001.hp1 others(1): Show HG00423.hp1 HG02056.hp2 NA19001.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0197 a0001c0001t0001g0204 others(1): Show a0001c0001t0001g0181 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0243	4	332	0.0121	34	c.123 others(53): Show c.1230+5752_1230+5753insATATATATATATATATATATATATAT ATATATAT	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH4_chr1_75791882_75918242	75885960	T T	TTATATAT others(27): Show TTATATATAGCATGTATAGTATATACGATGTATTA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0162 a0003c0005t0001g0162	1	332	0.0030	34	c.210 others(53): Show c.2107+2145_2107+2146insTAGCATGTATAGTATATACGATGTAT TATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH4_chr1_75791882_75918242	75907684	C C	CTCTCTCT others(27): Show CTCTCTCTCTACATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0078 a0005c0006t0001g0078	1	332	0.0030	34	c.262 others(53): Show c.2620-5011_2620-5010insCTCTCTCTACATATATATATATATAT ATATATAT	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSI2_chr17_57251523_57689689	57563746	G G	GCGCACAC others(27): Show GCGCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0012 a0001c0001t0039g0012	1	168	0.0060	34	c.455 others(53): Show c.455-33121_455-33120insGCACACACACACACACACACACACAC ACACACAC	MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSL1_chr17_40116971_40141917	40140317	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	356	0.0028	34	c.59 others(45): Show c.5948_*5949insACACACACACACACACACACACACACACACACAC	MSL1	ENSG00000188895.12	transcript	ENST00000398532.9	protein_coding		3401		chr17	TogoVar
MSL1_chr17_40116971_40141917	40140357	C C	CACACACA others(27): Show CACACACACCAACACACACACACACACACACCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0056 a0001c0002t0003g0056	1	356	0.0028	34	c.59 others(45): Show c.5988_*5989insACACACACCAACACACACACACACACACACCCCA	MSL1	ENSG00000188895.12	transcript	ENST00000398532.9	protein_coding		3441		chr17	TogoVar
MSLN_chr16_755734_773862	767718	A A	AGGGGGGC others(27): Show AGGGGGGCGCGTGGGGGTGCGTGGGGGGGGCACGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	388	0.0026	34	c.159 others(51): Show c.1596+250_1596+251insGGGGCGCGTGGGGGTGCGTGGGGGGGGC ACGTGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767822	C C	CGTGGGGG others(27): Show CGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19010.hp1 NA18952.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0084 a0001c0001t0001g0085	2	388	0.0052	34	c.159 others(51): Show c.1596+361_1596+362insTGTGGAGGGGGGCGCGTGGGGGTGTGTG GGGGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767969	C C	CGCGTGGG others(27): Show CGCGTGGGGGGGTGTGGAGGGGGGCACATGGGGGT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0333 a0002c0002t0002g0333	1	388	0.0026	34	c.159 others(51): Show c.1597-409_1597-408insCGTGGGGGGGTGTGGAGGGGGGCACATG GGGGTG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSR1_chr8_16102881_16197651	16103107	G G	GTGTATAT others(27): Show GTGTATATATGTATATATGTATATGTGTGTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01106.hp1 others(16): Show HG00642.hp2 HG00738.hp2 HG01106.hp1 HG01109.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG02615.hp2 HG02698.hp1 HG02738.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp1 HG03492.hp2 NA19030.hp1 NA19043.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0001c0006 a0001c0011 others(3): Show a0001c0001 a0001c0006 a0001c0011 a0002c0002 a0003c0004 a0011c0021	a0001c0001t0007 a0001c0001t0026 a0001c0001t0045 others(6): Show a0001c0001t0007 a0001c0001t0026 a0001c0001t0045 a0001c0001t0050 a0001c0006t0007 a0001c0011t0008 a0002c0002t0007 a0003c0004t0015 a0011c0021t0015	a0001c0001t0007g0051 a0001c0001t0007g0076 a0001c0001t0007g0159 others(16): Show a0001c0001t0007g0051 a0001c0001t0007g0076 a0001c0001t0007g0159 a0001c0001t0007g0189 a0001c0001t0007g0203 a0001c0001t0007g0216 a0001c0001t0007g0313 a0001c0001t0026g0157 a0001c0001t0026g0158 a0001c0001t0045g0067 a0001c0001t0050g0329 a0001c0006t0007g0289 a0001c0011t0008g0068 a0001c0011t0008g0069 a0002c0002t0007g0145 a0003c0004t0015g0058 a0003c0004t0015g0062 a0003c0004t0015g0065 a0011c0021t0015g0066	19	330	0.0576	34	c.69 others(45): Show c.6977_*6978insTATATACACACATATACATATATACATATATACA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding		4773		chr8	TogoVar
MSR1_chr8_16102881_16197651	16189156	G G	GCAAAACC others(27): Show GCAAAACCTTATTTTACATATATTTCATATATACA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18959.hp1 NA18984.hp1 others(4): Show NA18945.hp2 NA18959.hp1 NA18984.hp1 NA19003.hp1 NA19011.hp1 NA19056.hp2 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0104 others(4): Show a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0122 a0002c0002t0003g0102 a0002c0002t0003g0123 a0002c0002t0003g0142	7	330	0.0212	34	c.-5+ others(49): Show c.-5+3441_-5+3442insTGTATATATGAAATATATGTAAAATAAGGT TTTG	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSRA_chr8_10049292_10433891	10155000	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01261.hp1 NA18950.hp1 others(6): Show HG00544.hp2 HG01261.hp1 NA18950.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA19057.hp1 NA19068.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0002	a0001c0001t0001g0133 a0001c0001t0001g0172 a0001c0001t0003g0123 others(6): Show a0001c0001t0001g0133 a0001c0001t0001g0172 a0001c0001t0003g0123 a0001c0001t0003g0131 a0001c0001t0006g0147 a0001c0001t0006g0225 a0001c0002t0002g0125 a0001c0002t0002g0217 a0001c0002t0002g0237	9	286	0.0315	34	c.143 others(53): Show c.143-52832_143-52831insATATATATATATATATATATATATAT ATATATAT	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10155002	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03041.hp2 HG02965.hp1 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0072 a0001c0002t0002g0101 a0001c0002t0002g0072 a0001c0002t0002g0101	2	286	0.0070	34	c.143 others(53): Show c.143-52819_143-52818insTATATATATATATATATATATATATA TATATATA	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10283160	A A	ACACACAC others(27): Show ACACACACACACACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0064 a0001c0001t0009g0064	1	286	0.0035	34	c.332 others(53): Show c.332-18373_332-18372insACACACACACACACACTCTCTCTCTC TCTCTCTC	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10283160	A A	ACACACAC others(27): Show ACACACACACACACACTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp1 HG00741.hp1 others(14): Show HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01192.hp2 HG01261.hp2 HG01361.hp2 HG01515.hp1 HG01981.hp1 HG02056.hp2 HG02738.hp1 HG03688.hp2 HG04204.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 others(14): Show a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0233 a0001c0001t0001g0284 a0001c0001t0003g0087 a0001c0002t0002g0111	17	286	0.0594	34	c.332 others(53): Show c.332-18373_332-18372insACACACACACACACTCTCTCTCTCTC TCTCTCTC	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10283160	A A	ACACACAC others(27): Show ACACACACACACACTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0088 a0001c0001t0001g0090	2	286	0.0070	34	c.332 others(53): Show c.332-18373_332-18372insACACACACACACTCTCTCTCTCTCTC TCTCTCTC	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10283160	A A	ACACACAC others(27): Show ACACACACACACTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	286	0.0035	34	c.332 others(53): Show c.332-18373_332-18372insACACACACACTCTCTCTCTCTCTCTC TCTCTCTC	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10363738	C C	CCACACAC others(27): Show CCACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG03831.hp1 NA18612.hp1 HG01975.hp2 HG03831.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0168 a0001c0002t0002g0180 a0001c0002t0002g0231 a0001c0002t0002g0168 a0001c0002t0002g0180 a0001c0002t0002g0231	3	286	0.0105	34	c.543 others(53): Show c.543+43757_543+43790dupACACACACACACACACACACACACAC ACACACAC	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10417754	T T	TTGTGTGT others(27): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01978.hp1 HG02886.hp2 HG01168.hp1 HG01978.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0132 a0001c0001t0003g0262 a0001c0002t0002g0099 a0001c0001t0003g0132 a0001c0001t0003g0262 a0001c0002t0002g0099	3	286	0.0105	34	c.544 others(53): Show c.544-10369_544-10368insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRB2_chr10_23090579_23127013	23096350	C C	CTGTGTGT others(27): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	442	0.0023	34	c.118 others(49): Show c.118+625_118+626insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	MSRB2	ENSG00000148450.13	transcript	ENST00000376510.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MSRB2_chr10_23090579_23127013	23096352	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18950.hp2 NA18952.hp2 others(1): Show NA18941.hp1 NA18950.hp2 NA18952.hp2 NA19080.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0014 a0003c0004t0003g0059 a0003c0004t0003g0014 a0003c0004t0003g0059	4	442	0.0091	34	c.118 others(49): Show c.118+627_118+628insCTCTCTCTCTCTGTGTGTGTGTGTGTGTGT GTGT	MSRB2	ENSG00000148450.13	transcript	ENST00000376510.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MSRB2_chr10_23090579_23127013	23096352	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0063	1	442	0.0023	34	c.118 others(49): Show c.118+627_118+628insCTCTCTCTCTGTGTGTGTGTGTGTGTGTGT GTGT	MSRB2	ENSG00000148450.13	transcript	ENST00000376510.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MSRB2_chr10_23090579_23127013	23096352	C C	CTCTCTGT others(27): Show CTCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	442	0.0023	34	c.118 others(49): Show c.118+627_118+628insCTCTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	MSRB2	ENSG00000148450.13	transcript	ENST00000376510.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MSRB2_chr10_23090579_23127013	23096352	C C	CTCTGTGT others(27): Show CTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	442	0.0023	34	c.118 others(49): Show c.118+627_118+628insCTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	MSRB2	ENSG00000148450.13	transcript	ENST00000376510.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MSRB2_chr10_23090579_23127013	23096352	C C	CTGTGTGT others(27): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	442	0.0023	34	c.118 others(49): Show c.118+647_118+648insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	MSRB2	ENSG00000148450.13	transcript	ENST00000376510.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MT3_chr16_56584528_56596085	56592165	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	438	0.0023	34	c.12 others(45): Show c.1216_*1217insTATATATATATATATATATATATATATATATATG	MT3	ENSG00000087250.9	transcript	ENST00000200691.5	protein_coding		1081		chr16	TogoVar
MTA3_chr2_42563632_42761946	42594728	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	312	0.0032	34	c.191 others(53): Show c.191-14729_191-14728insATATATATATATATATATATATATAT ATATTTTT	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTA3_chr2_42563632_42761946	42594728	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	312	0.0032	34	c.191 others(53): Show c.191-14729_191-14728insATATATATATATATATATATATATAT ATTTTTTT	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTA3_chr2_42563632_42761946	42594728	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	312	0.0032	34	c.191 others(53): Show c.191-14729_191-14728insATATATATATATATATATATATATAT TTTTTTTT	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTA3_chr2_42563632_42761946	42594728	A A	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02165.hp1 HG02083.hp2 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0170 a0001c0001t0002g0209 a0001c0001t0001g0170 a0001c0001t0002g0209	2	312	0.0064	34	c.191 others(53): Show c.191-14729_191-14728insATATATATATATATATATATATTTTT TTTTTTTT	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTAP_chr9_21797636_21872081	21802985	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG03453.hp2 HG03516.hp1 HG01517.hp2 HG03453.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0020 a0001c0001t0001g0021 a0002c0002t0004g0022 a0001c0001t0001g0020 a0001c0001t0001g0021 a0002c0002t0004g0022	3	382	0.0079	34	c.33+ others(47): Show c.33+223_33+256dupACACACACACACACACACACACACACACACAC AC	MTAP	ENSG00000099810.21	transcript	ENST00000644715.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
MTCH2_chr11_47612317_47647559	47633505	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	370	0.0027	34	c.369 others(51): Show c.369+1166_369+1167insATATATATATATATATATATATATATAT ATATAT	MTCH2	ENSG00000109919.10	transcript	ENST00000302503.8	protein_coding	5/12			chr11	TogoVar
MTCH2_chr11_47612317_47647559	47633526	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	370	0.0027	34	c.369 others(51): Show c.369+1145_369+1146insAATATATATATATATATATATATATATA TATATA	MTCH2	ENSG00000109919.10	transcript	ENST00000302503.8	protein_coding	5/12			chr11	TogoVar
MTCL1_chr18_8700556_8837778	8805102	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0010 a0010	a0010c0095 a0010c0095	a0010c0095t0001 a0010c0095t0001	a0010c0095t0001g0195 a0010c0095t0001g0195	1	336	0.0030	34	c.351 others(53): Show c.3517-1774_3517-1773insTATATATATATATATATATATATATA TATATATA	MTCL1	ENSG00000168502.18	transcript	ENST00000695636.1	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr18	TogoVar

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