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
MAPKAPK2_chr1_206679905_206739281	206691482	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0320 a0001c0001t0002g0320	1	382	0.0026	36	c.279 others(53): Show c.279+5997_279+5998insTATATATATATATATATATATATATATA TATATATA	MAPKAPK2	ENSG00000162889.11	transcript	ENST00000367103.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAPKAPK2_chr1_206679905_206739281	206691502	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0161 a0002c0003t0004g0161	1	382	0.0026	36	c.279 others(53): Show c.279+5997_279+5998insTATATATATATATATATATATATATATA TATACATA	MAPKAPK2	ENSG00000162889.11	transcript	ENST00000367103.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAPKAPK3_chr3_50612151_50654291	50645011	T T	TTCATTAC others(29): Show TTCATTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0092 a0003c0003t0001g0092	1	326	0.0031	36	c.628 others(51): Show c.628+479_628+480insTCATTACAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	MAPKAPK3	ENSG00000114738.11	transcript	ENST00000621469.5	protein_coding	6/10			chr3	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAATATA others(29): Show AAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0211 a0002c0002t0002g0211	1	328	0.0031	36	c.114 others(55): Show c.114+11389_114+11390insAATATATATATATATATATATATATA TATATATATA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPT_chr17_45889554_46033334	45904338	A A	ATATATAT others(29): Show ATATATATTATATATATTATATATATTAAATATATTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03669.hp1 HG02602.hp2 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0012 a0002c0002t0001 a0002c0002t0012	a0002c0002t0001g0055 a0002c0002t0012g0058 a0002c0002t0001g0055 a0002c0002t0012g0058	2	253	0.0079	36	c.-18 others(53): Show c.-18+9659_-18+9660insTATATATATTATATATATTAAATATATT TTATATAT	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAPT_chr17_45889554_46033334	45941681	T T	TCCTTCCT others(29): Show TCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	253	0.0040	36	c.-17 others(55): Show c.-17-20626_-17-20625insCTCCTTCCTTCCTTCCTTCCTGCCTT CCTTCCTTCC	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MARCHF10_chr17_62696314_62813314	62723559	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02486.hp2 HG01975.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0226 a0001c0001t0001g0030 a0001c0001t0001g0226	2	280	0.0071	36	c.210 others(53): Show c.2105-963_2105-962insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	MARCHF10	ENSG00000173838.12	transcript	ENST00000311269.10	protein_coding	7/10			chr17	TogoVar
MARCHF10_chr17_62696314_62813314	62808309	G G	GCGGCTAC others(29): Show GCGGCTACCGGGGGATGGGAAGGCTGGTGGGGCGTAT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0002 a0001c0001t0009g0002	1	280	0.0036	36	c.-25 others(45): Show c.-251_-250insATACGCCCCACCAGCCTTCCCATCCCCCGGTAGCCG	MARCHF10	ENSG00000173838.12	transcript	ENST00000311269.10	protein_coding	1/11	6575		chr17	TogoVar
MARCHF1_chr4_163519718_164389019	163733191	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATACACGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03516.hp2 HG02258.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0007 a0002c0004t0029 a0001c0001t0007 a0002c0004t0029	a0001c0001t0007g0051 a0002c0004t0029g0047 a0001c0001t0007g0051 a0002c0004t0029g0047	2	102	0.0196	36	c.112 others(55): Show c.112-32364_112-32329dupCACGTGTATATATATATATATATATA TATATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163733193	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATACACGTG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	102	0.0098	36	c.112 others(55): Show c.112-32331_112-32330insCACGTGTATATATATATATATATATA TATATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163733207	A A	ACATACAC others(29): Show ACATACACATGTATATATATATATATATATACACATG	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18906.hp2 HG03540.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0028 a0001c0001t0001 a0001c0002t0028	a0001c0001t0001g0038 a0001c0002t0028g0099 a0001c0001t0001g0038 a0001c0002t0028g0099	2	102	0.0196	36	c.112 others(55): Show c.112-32345_112-32344insCATGTGTATATATATATATATATATA CATGTGTATG	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163866466	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0014	a0001c0006t0014g0010 a0001c0006t0014g0010	1	102	0.0098	36	c.-38 others(55): Show c.-38-12298_-38-12297insTATATATATATATATATATATATATA TATATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164340405	T T	TTATATAC others(29): Show TTATATACATACATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0023	1	102	0.0098	36	c.-32 others(57): Show c.-323+43464_-323+43465insTATATATATATATATATATATATA TGTATGTATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164340405	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0079 a0001c0001t0018g0079	1	102	0.0098	36	c.-32 others(57): Show c.-323+43464_-323+43465insTATATATATATATATATATATATA TATATATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164340405	T T	TTTTATAT others(29): Show TTTTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA19066.hp1 NA18972.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0095 a0001c0002t0002g0097 a0001c0002t0002g0095 a0001c0002t0002g0097	2	102	0.0196	36	c.-32 others(57): Show c.-323+43464_-323+43465insTATATATATATATATATATATATA TATATATATAAA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF3_chr5_126862714_127035558	126866880	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 NA18961.hp1 HG02280.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0071 a0001c0001t0062 a0001c0001t0071	a0001c0001t0062g0190 a0001c0001t0071g0210 a0001c0001t0062g0190 a0001c0001t0071g0210	2	296	0.0068	36	c.37 others(47): Show c.3752_*3753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding		833		chr5	TogoVar
MARCHF4_chr2_216252865_216377483	216300350	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATGTATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0173 a0001c0001t0004g0173	1	330	0.0030	36	c.517 others(55): Show c.517-16622_517-16621insTATATACATATATATATATATATATA TATATATATA	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3			chr2	TogoVar
MARCHF4_chr2_216252865_216377483	216354891	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0148 a0001c0002t0005g0148	1	330	0.0030	36	c.516 others(55): Show c.516+14818_516+14853dupGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3			chr2	TogoVar
MARCO_chr2_118937194_118999660	118986652	A A	AGAAAGAA others(29): Show AGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	394	0.0025	36	c.106 others(55): Show c.1064-3934_1064-3933insAGAAAGAAAGAAAGAAAGAAGGAAGG AAGGAAGGAA	MARCO	ENSG00000019169.11	transcript	ENST00000327097.5	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MARK3_chr14_103380415_103508831	103452471	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	348	0.0029	36	c.412 others(51): Show c.412+506_412+507insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MAST1_chr19_12833515_12879952	12861680	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp2 HG02622.hp1 others(1): Show HG02486.hp1 HG02615.hp2 HG02622.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0001 a0001c0003t0001 a0001c0005t0001	a0001c0003t0001g0016 a0001c0003t0001g0019 a0001c0003t0001g0024 others(1): Show a0001c0003t0001g0016 a0001c0003t0001g0019 a0001c0003t0001g0024 a0001c0005t0001g0025	4	316	0.0127	36	c.136 others(55): Show c.1366+2943_1366+2978dupCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	MAST1	ENSG00000105613.10	transcript	ENST00000251472.9	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST4_chr5_66591393_67174593	67049061	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATACGTATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02615.hp1 HG02055.hp2 HG02615.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0007 a0007c0014t0007	a0007c0014t0007g0008 a0007c0014t0007g0012 a0007c0014t0007g0008 a0007c0014t0007g0012	2	108	0.0185	36	c.675 others(53): Show c.675-5325_675-5324insTATATATACGTATATATATATATATATA TATATATA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67078913	T T	TAAATATA others(29): Show TAAATATATATATATATAATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0105 a0001c0001t0026g0105	1	108	0.0093	36	c.764 others(55): Show c.764-11248_764-11247insAATATATATATATATAATATATATAT ATATATATAA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAT2A_chr2_85534168_85550281	85538028	G G	GGCCCCCC others(29): Show GGCCCCCCCCAGCACACCCCCCCCTCCACACCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	418	0.0024	36	c.-12 others(47): Show c.-1260_-1259insGCCCCCCCCAGCACACCCCCCCCTCCACACCCCC CA	MAT2A	ENSG00000168906.13	transcript	ENST00000306434.8	protein_coding		1139		chr2	TogoVar
MATCAP2_chr7_36319152_36372240	36343435	G G	GGAGGGGA others(29): Show GGAGGGGAGGGGAGAGGGGAGAGGAGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0036 a0001c0001t0006g0036	1	388	0.0026	36	c.715 others(53): Show c.715-7139_715-7138insTCCCCTCCCCTCTCCTCTCCCCTCTCCC CTCCCCTC	MATCAP2	ENSG00000164542.13	transcript	ENST00000440378.6	protein_coding	2/6			chr7	TogoVar
MATCAP2_chr7_36319152_36372240	36343446	G G	GAGAGGGG others(29): Show GAGAGGGGAGAGGAGAGGGGAGGGGAGAGGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	388	0.0026	36	c.715 others(53): Show c.715-7150_715-7149insTCCCTCCCCTCTCCCCTCCCCTCTCCTC TCCCCTCT	MATCAP2	ENSG00000164542.13	transcript	ENST00000440378.6	protein_coding	2/6			chr7	TogoVar
MATCAP2_chr7_36319152_36372240	36343500	G G	GGAGGGGA others(29): Show GGAGGGGAGAGGGGACGGGAGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01952.hp2 others(6): Show HG01070.hp1 HG01071.hp1 HG01952.hp2 HG02818.hp1 HG03239.hp2 HG03942.hp2 NA19010.hp1 NA19011.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0040 a0001c0001t0005g0043 others(5): Show a0001c0001t0005g0013 a0001c0001t0005g0040 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0048	9	388	0.0232	36	c.715 others(53): Show c.715-7204_715-7203insTCCCCTCCCCTCCCCTCTCCCGTCCCCT CTCCCCTC	MATCAP2	ENSG00000164542.13	transcript	ENST00000440378.6	protein_coding	2/6			chr7	TogoVar
MATN4_chr20_45288450_45313299	45305805	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0269 a0004c0005t0002g0269	1	422	0.0024	36	c.-34 others(51): Show c.-34-190_-34-189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	MATN4	ENSG00000124159.17	transcript	ENST00000372756.6	protein_coding	1/9			chr20	TogoVar
MBD3L2_chr19_7044321_7056735	7053462	T T	TTATAATA others(29): Show TTATAATATAATTTATATGTTATATAATTATATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA19082.hp1 NA18522.hp1 NA19082.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0001 a0004c0005t0001 a0002c0002t0001 a0004c0005t0001	a0002c0002t0001g0002 a0004c0005t0001g0002 a0002c0002t0001g0002 a0004c0005t0001g0002	2	258	0.0078	36	c.18 others(47): Show c.1840_*1841insTATAATATAATTTATATGTTATATAATTATATTA TA	MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding		1728		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7053462	T T	TTATAATA others(29): Show TTATAATATAATTTATATGTTATATAATTATATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA19082.hp1 NA18522.hp1 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	2	288	0.0069	36	c.28 others(47): Show c.2859_*2860insTATAATATAATTATATAACATATAAATTATATTA TA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		2744		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035842	A A	ATATATAT others(29): Show ATATATATAATATAATTATATAACATATAAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0003 a0003c0003t0002g0003	1	262	0.0038	36	c.20 others(47): Show c.2018_*2019insATATAATTTATATGTTATATAATTATATTATATA TA	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		1906		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035859	A A	ATATAACA others(29): Show ATATAACATATAAATTATATTATATATAATATAATTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0003 a0003c0003t0002g0003	1	262	0.0038	36	c.20 others(47): Show c.2001_*2002insGAATTATATTATATATAATATAATTTATATGTTA TA	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		1889		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035895	C C	CTATAACA others(29): Show CTATAACATATAAATTATATTATATATAATATAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0003 a0003c0003t0002g0003	1	262	0.0038	36	c.19 others(47): Show c.1965_*1966insTAATTATATTATATATAATATAATTTATATGTTA TA	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		1853		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035859	A A	ATATAACA others(29): Show ATATAACATATAAATTATATTATATATAATATAATTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	249	0.0040	36	c.29 others(47): Show c.2965_*2966insTATAACATATAAATTATATTATATATAATATAAT TC	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2849		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035895	C C	CTATAACA others(29): Show CTATAACATATAAATTATATTATATATAATATAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	249	0.0040	36	c.30 others(47): Show c.3001_*3002insTATAACATATAAATTATATTATATATAATATAAT TA	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2885		chr19	TogoVar
MBD5_chr2_148016091_148521971	148288399	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0150 a0001c0003t0008g0150	1	188	0.0053	36	c.-67 others(57): Show c.-679-53800_-679-53799insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBNL2_chr13_97217333_97399120	97291900	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01952.hp1 HG00558.hp2 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0147 a0001c0001t0001g0100 a0001c0001t0001g0147	2	254	0.0079	36	c.174 others(55): Show c.174+15508_174+15509insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL2_chr13_97217333_97399120	97388314	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0234 a0001c0001t0014g0234	1	254	0.0039	36	c.104 others(55): Show c.1049-2986_1049-2985insATATATATATATATATATATATATAT ATATATATAT	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL3_chrX_132364320_132494038	132372455	C C	CAATAATA others(29): Show CAATAATATTAAAATATTATTAATATTATAATATTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG02257.hp2 NA18990.hp1 HG01891.hp1 HG02257.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0032 a0001c0001t0043 a0001c0001t0024 a0001c0001t0032 a0001c0001t0043	a0001c0001t0024g0155 a0001c0001t0032g0130 a0001c0001t0043g0002 a0001c0001t0024g0155 a0001c0001t0032g0130 a0001c0001t0043g0002	3	191	0.0157	36	c.71 others(47): Show c.7175_*7210dupTTAATATTATAATATTAATAATATTTTAATATTA TT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	9/9	7210		chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396797	C C	CATATATA others(29): Show CATATATATATTCATATATACATATATATATATTCAT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0092 a0001c0001t0005g0092	1	191	0.0052	36	c.343 others(53): Show c.343-4464_343-4463insATGAATATATATATATGTATATATGAAT ATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBOAT2_chr2_8847690_9008684	8912333	A A	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0040 a0001c0001t0005g0040	1	162	0.0062	36	c.300 others(53): Show c.300-3618_300-3617insCTTTCTTTCTTTCTTTCTTTCTCTTTCT TTCTTTCT	MBOAT2	ENSG00000143797.12	transcript	ENST00000305997.8	protein_coding	3/12			chr2	TogoVar
MBOAT7_chr19_54168415_54194580	54171116	C C	CATATATG others(29): Show CATATATGCGTATATATATACACGTATATACGCGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0162 a0001c0005t0001g0162	1	373	0.0027	36	c.29 others(47): Show c.2927_*2928insATACGCGTATATACGTGTATATATATACGCATAT AT	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding		2298		chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54171116	C C	CATATATG others(29): Show CATATATGCGTATATATATACGCATATATACGCGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	373	0.0027	36	c.29 others(47): Show c.2927_*2928insATACGCGTATATATGCGTATATATATACGCATAT AT	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding		2298		chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54171116	C C	CATATATG others(29): Show CATATATGCGTATATATATACGCGTATATACGCATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0137	1	373	0.0027	36	c.29 others(47): Show c.2927_*2928insATATGCGTATATACGCGTATATATATACGCATAT AT	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding		2298		chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54171116	C C	CATATATG others(29): Show CATATATGCGTATATATATACGCGTATATACGCGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(228): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0012 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0001c0012t0003 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0002c0003t0008	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(225): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0148 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0329 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0341 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0352 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0362 a0001c0001t0002g0236 a0001c0001t0003g0003 a0001c0001t0003g0074 a0001c0001t0003g0080 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0098 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0151 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0194 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0207 a0001c0001t0003g0211 a0001c0001t0003g0222 a0001c0001t0003g0245 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0264 a0001c0001t0003g0281 a0001c0001t0003g0304 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0330 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0336 a0001c0001t0003g0340 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0003g0350 a0001c0001t0003g0351 a0001c0001t0005g0366 a0001c0001t0005g0367 a0001c0001t0006g0198 a0001c0001t0006g0202 a0001c0001t0006g0253 a0001c0001t0006g0298 a0001c0001t0012g0071 a0001c0002t0001g0159 a0001c0005t0001g0160 a0001c0005t0001g0161 a0001c0006t0001g0307 a0001c0006t0001g0353 a0001c0007t0001g0088 a0001c0007t0001g0242 a0001c0009t0001g0128 a0001c0012t0003g0142 a0002c0003t0001g0012 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0054 a0002c0003t0001g0056 a0002c0003t0001g0082 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0129 a0002c0003t0001g0131 a0002c0003t0001g0164 a0002c0003t0001g0210 a0002c0003t0001g0213 a0002c0003t0001g0287 a0002c0003t0003g0084 a0002c0003t0003g0120 a0002c0003t0003g0209 a0002c0003t0003g0320 a0002c0003t0006g0266 a0002c0003t0008g0005	231	373	0.6193	36	c.29 others(47): Show c.2927_*2928insATACGCGTATATACGCGTATATATATACGCATAT AT	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding		2298		chr19	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(29): Show AAAAAAAAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 NA19054.hp2 HG02145.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0038 a0001c0001t0014 a0001c0002t0038	a0001c0001t0014g0210 a0001c0002t0038g0017 a0001c0001t0014g0210 a0001c0002t0038g0017	2	340	0.0059	36	c.41 others(47): Show c.4153_*4154insATATATATATATATATATATATATATATTTTTTT TT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179482	T T	TTATATAT others(29): Show TTATATATATATATATATATATATTTATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0134 a0001c0001t0134	a0001c0001t0134g0285 a0001c0001t0134g0285	1	340	0.0029	36	c.10 others(47): Show c.1093_*1094insTATATATATATAAATATATATATATATATATATA TA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1093		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51190750	A A	AAAAAAAA others(29): Show AAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0060 a0001c0001t0018g0060	1	340	0.0029	36	c.176 others(55): Show c.1768+1452_1768+1453insATATATATATATATATATATATATAT ATTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	16/16			chr17	TogoVar
MBTPS2_chrX_21834617_21890423	21862933	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0072 a0001c0002t0002g0072	1	308	0.0033	36	c.671 others(53): Show c.671-5499_671-5498insTATATATATATATATATATATATATATA TATATATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
MCC_chr5_113017106_113493453	113327559	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0083 a0001c0003t0001g0083	1	160	0.0063	36	c.627 others(55): Show c.627+12959_627+12960insATATATATATATATATATATATATAT ATATATATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar

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Search Results (Total: 8848 hits)