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
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0002 a0002c0025t0002	a0002c0025t0002g0112 a0002c0025t0002g0112	1	340	0.0029	34	c.191 others(53): Show c.1911+2785_1911+2786insTATATATATATATATATATATATATA TAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0115 a0002c0002t0002g0115	1	340	0.0029	34	c.191 others(53): Show c.1911+2785_1911+2786insTATATATATATATATATATATATATA TATATAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAML2_chr11_95971598_96348195	96121780	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA19062.hp1 NA19062.hp2 HG01934.hp2 NA19062.hp1 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0013 a0001c0002t0042 a0001c0002t0003 a0001c0002t0013 a0001c0002t0042	a0001c0002t0003g0199 a0001c0002t0013g0035 a0001c0002t0042g0120 a0001c0002t0003g0199 a0001c0002t0013g0035 a0001c0002t0042g0120	3	230	0.0130	34	c.514 others(53): Show c.514-28264_514-28263insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAMLD1_chrX_150358317_150519173	150403956	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	226	0.0044	34	c.-64 others(53): Show c.-64+40428_-64+40461dupAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAN1A2_chr1_117362449_117533872	117458488	T T	TATATATC others(27): Show TATATATCTATATATATATAGATATATATATATAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0017 a0001c0001t0016g0017	1	370	0.0027	34	c.951 others(51): Show c.951-1995_951-1994insCTATATATATATAGATATATATATATAG ATATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1C1_chr1_25611791_25789450	25644497	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0230 a0001c0002t0001g0230	1	250	0.0040	34	c.540 others(53): Show c.540+26182_540+26183insATATATATATATATATATATATATAT ATATATAT	MAN1C1	ENSG00000117643.16	transcript	ENST00000374332.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN2A1_chr5_109684927_109874625	109708509	G G	GACACACA others(27): Show GACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01934.hp1 HG03540.hp1 others(4): Show HG00735.hp1 HG01934.hp1 HG03540.hp1 HG03654.hp2 NA18966.hp1 NA19060.hp2 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0290 a0002c0002t0002g0189 a0002c0002t0002g0205 others(4): Show a0001c0001t0001g0290 a0002c0002t0002g0189 a0002c0002t0002g0205 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0277	7	296	0.0237	34	c.136 others(51): Show c.136-5007_136-4974dupCACACACACACACACACACACACACACA CACACA	MAN2A1	ENSG00000112893.10	transcript	ENST00000261483.5	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAN2A1_chr5_109684927_109874625	109708509	G G	GACAGACA others(27): Show GACAGACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0036 a0001c0004t0036	a0001c0004t0036g0024 a0001c0004t0036g0024	1	296	0.0034	34	c.136 others(51): Show c.136-5008_136-5007insGACACACACACACACACACACACACACA CACACA	MAN2A1	ENSG00000112893.10	transcript	ENST00000261483.5	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAN2B2_chr4_6570189_6628362	6579129	C C	CCACCACC others(27): Show CCACCACCATCACCACCACCACCCTTCACCACCAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03139.hp2 HG03209.hp1 others(1): Show HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp2	a0009 a0009	a0009c0011 a0009c0028 a0009c0011 a0009c0028	a0009c0011t0001 a0009c0011t0002 a0009c0028t0003 a0009c0011t0001 a0009c0011t0002 a0009c0028t0003	a0009c0011t0001g0046 a0009c0011t0001g0105 a0009c0011t0002g0104 others(1): Show a0009c0011t0001g0046 a0009c0011t0001g0105 a0009c0011t0002g0104 a0009c0028t0003g0047	4	362	0.0111	34	c.391 others(49): Show c.391+639_391+640insTCACCACCACCACCCTTCACCACCATCACC ACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP1LC3B2_chr12_116554381_116581606	116560226	A A	ATATATAT others(27): Show ATATATATATATATATATATATATGTATGTATATG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0036 a0001c0001t0021g0036	1	446	0.0022	34	c.-10 others(51): Show c.-102+808_-102+809insATATATATGTATGTATATGTATATATAT ATATAT	MAP1LC3B2	ENSG00000258102.5	transcript	ENST00000556529.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
MAP2K1_chr15_66381912_66496544	66420721	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	372	0.0027	34	c.81- others(51): Show c.81-14305_81-14304insATATATATATATATATATATATATATAT ATGTGT	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66420721	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02257.hp2 others(1): Show HG01884.hp2 HG02109.hp2 HG02257.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0001t0001g0344 others(1): Show a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0001t0001g0344 a0001c0001t0001g0349	4	372	0.0108	34	c.81- others(51): Show c.81-14305_81-14304insATATATATATATATATATATATATATAT GTGTGT	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66420721	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02818.hp1 HG02572.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0354 a0001c0001t0014g0213 a0001c0001t0001g0354 a0001c0001t0014g0213	2	372	0.0054	34	c.81- others(51): Show c.81-14305_81-14304insATATATATATATATATATATATATATGT GTGTGT	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66420721	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp1 HG03098.hp2 others(1): Show HG00733.hp2 HG01069.hp1 HG03098.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0347 a0001c0001t0001g0348 others(1): Show a0001c0001t0001g0343 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0355	4	372	0.0108	34	c.81- others(51): Show c.81-14305_81-14304insATATATATATATATATATATATATGTGT GTGTGT	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66469693	G G	GACACACA others(27): Show GACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01993.hp1 HG03540.hp2 others(5): Show HG01257.hp1 HG01993.hp1 HG03540.hp2 NA18952.hp2 NA18953.hp2 NA18960.hp1 NA18970.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0129 others(5): Show a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0212 a0001c0001t0001g0221	8	372	0.0215	34	c.569 others(53): Show c.569-12031_569-12030insCACACACACACACACACACACACACA CACACACA	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66469723	C C	CACACACA others(27): Show CACACACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02300.hp2 HG02683.hp2 others(3): Show HG00140.hp2 HG02300.hp2 HG02683.hp2 HG03834.hp1 NA18972.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0047 a0001c0001t0002g0056 a0001c0001t0002g0063 others(3): Show a0001c0001t0002g0047 a0001c0001t0002g0056 a0001c0001t0002g0063 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0005g0240	6	372	0.0161	34	c.569 others(53): Show c.569-12031_569-12030insCACACACACACACACACACACACACA CACACATA	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66478417	C C	CAGGTATA others(27): Show CAGGTATATATATATACACACAGGTATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01934.hp2 others(13): Show HG01069.hp2 HG01071.hp2 HG01934.hp2 HG02165.hp2 HG02257.hp1 HG03491.hp1 HG03492.hp2 HG04184.hp1 HG04199.hp2 NA18747.hp2 NA18971.hp1 NA18986.hp2 NA19007.hp1 NA19062.hp1 NA19079.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0212 others(13): Show a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0236 a0001c0001t0001g0238	16	372	0.0430	34	c.569 others(51): Show c.569-3337_569-3336insGGTATATATATATACACACAGGTATATA TATATA	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67590468	T T	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01496.hp2 HG02965.hp1 others(4): Show HG01261.hp1 HG01496.hp2 HG02965.hp1 HG03041.hp2 HG03516.hp2 HG03942.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0001 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0004g0236 others(4): Show a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0004g0236 a0001c0001t0004g0256 a0001c0001t0004g0269 a0001c0001t0008g0261 a0001c0001t0008g0262	7	278	0.0252	34	c.432 others(51): Show c.432-2450_432-2449insCTCTCTCTCTCTCTCTCTCTCTCTCACT CTCTCT	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP3K15_chrX_19355059_19520508	19478125	A A	AGAGGGGG others(27): Show AGAGGGGGGAGAGAGGGGGAGAGAGGGGGAGAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0154 a0002c0003t0006g0154	1	163	0.0061	34	c.525 others(51): Show c.525+8356_525+8357insCTCTCTCCCCCTCTCTCCCCCTCTCTCC CCCCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0085 a0001c0007t0007g0085	1	334	0.0030	34	c.160 others(53): Show c.160-35376_160-35375insATATATATATATATATATATATATAT ATATTTTT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0178 a0001c0001t0004g0178	1	334	0.0030	34	c.160 others(53): Show c.160-35376_160-35375insATATATATATATATATATATATATAT ATTTTTTT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0182 a0003c0005t0005g0182	1	334	0.0030	34	c.160 others(53): Show c.160-35376_160-35375insATATATATATATATATATATATATAT TTTTTTTT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(27): Show ATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA19009.hp2 NA19083.hp1 HG01261.hp2 NA19009.hp2 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0002 a0001c0004t0002 a0002c0003t0003 a0001c0001t0002 a0001c0004t0002 a0002c0003t0003	a0001c0001t0002g0048 a0001c0004t0002g0092 a0002c0003t0003g0061 a0001c0001t0002g0048 a0001c0004t0002g0092 a0002c0003t0003g0061	3	334	0.0090	34	c.160 others(53): Show c.160-35376_160-35375insATATATATATATATATATTTTTTTTT TTTTTTTT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(27): Show ATATATATATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0003 a0002c0011t0003	a0002c0011t0003g0054 a0002c0011t0003g0054	1	334	0.0030	34	c.160 others(53): Show c.160-35376_160-35375insATATATATTTTTTTTTTTTTTTTTTT TTTTTTTT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K3_chr17_63617417_63701305	63699349	C C	CTGCAAGG others(27): Show CTGCAAGGGGAAGTCAGTCGGGAGGGCCCCGCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	180	0.0056	34	c.55 others(45): Show c.5572_*5573insTGCAAGGGGAAGTCAGTCGGGAGGGCCCCGCCAG	MAP3K3	ENSG00000198909.8	transcript	ENST00000361733.8	protein_coding		3045		chr17	TogoVar
MAP4K1_chr19_38582641_38622953	38621414	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp2 HG02027.hp1 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0332 a0001c0001t0001g0285 a0001c0001t0001g0332	2	348	0.0058	34	c.-35 others(45): Show c.-3520_-3519insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MAP4K1	ENSG00000104814.13	transcript	ENST00000396857.7	protein_coding		3462		chr19	TogoVar
MAP4K3_chr2_39244266_39442285	39415980	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	232	0.0043	34	c.96+ others(51): Show c.96+20911_96+20912insATATATATATATATATATATATATATTT TTTTTT	MAP4K3	ENSG00000011566.15	transcript	ENST00000263881.8	protein_coding	1/33			chr2	TogoVar
MAP4K3_chr2_39244266_39442285	39415980	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	232	0.0043	34	c.96+ others(51): Show c.96+20911_96+20912insATATATATATATATATATATATATATAT ATTTTT	MAP4K3	ENSG00000011566.15	transcript	ENST00000263881.8	protein_coding	1/33			chr2	TogoVar
MAP4K4_chr2_101692707_101899690	101797889	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0288 a0001c0001t0003g0288	1	310	0.0032	34	c.180 others(51): Show c.180+7134_180+7135insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	3/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP4_chr3_47845695_48021416	47997326	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0089 a0002c0002t0002g0089	1	232	0.0043	34	c.223 others(51): Show c.223+1311_223+1312insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	MAP4	ENSG00000047849.22	transcript	ENST00000683076.1	protein_coding	2/20			chr3	TogoVar
MAP7_chr6_136337734_136555422	136394931	C C	CATATATA others(27): Show CATATATATATATATATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0035 a0002c0002t0002g0035	1	248	0.0040	34	c.245 others(51): Show c.245-5415_245-5414insATATATATATATATGTATATATATATAT ATATAT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	3/17			chr6	TogoVar
MAPK1_chr22_21754657_21872645	21813039	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0071 a0001c0001t0037g0071	1	348	0.0029	34	c.120 others(51): Show c.120-5194_120-5193insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	MAPK1	ENSG00000100030.15	transcript	ENST00000215832.11	protein_coding	1/8			chr22	TogoVar
MAPK6_chr15_52014219_52072375	52016070	G G	GCGCGCAA others(27): Show GCGCGCAAACACACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0052 a0001c0002t0052	a0001c0002t0052g0039 a0001c0002t0052g0039	1	356	0.0028	34	c.-39 others(45): Show c.-3938_-3937insCGCGCAAACACACACACACACACACACACACACA	MAPK6	ENSG00000069956.14	transcript	ENST00000261845.7	protein_coding		3148		chr15	TogoVar
MAPKAP1_chr9_125432394_125712208	125693676	T T	TATATATA others(27): Show TATATATACACGTATATATACACGTATATATACAC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0182 a0001c0002t0001g0182	1	300	0.0033	34	c.-70 others(53): Show c.-70+13261_-70+13294dupGTGTATATATACGTGTATATATACGT GTATATAT	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	1/11			chr9	TogoVar
MAPKAPK2_chr1_206679905_206739281	206691482	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0043 a0001c0004t0001g0043	1	382	0.0026	34	c.279 others(51): Show c.279+5997_279+5998insTATATATATATATATATATATATATATA TATATA	MAPKAPK2	ENSG00000162889.11	transcript	ENST00000367103.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAPKAPK2_chr1_206679905_206739281	206691504	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA20752.hp2 HG03239.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0150 a0001c0001t0003g0295 a0001c0001t0002g0150 a0001c0001t0003g0295	2	382	0.0052	34	c.279 others(51): Show c.279+5997_279+5998insTATATATATATATATATATATATATATA TATACA	MAPKAPK2	ENSG00000162889.11	transcript	ENST00000367103.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0085 a0002c0002t0002g0085	1	328	0.0031	34	c.114 others(53): Show c.114+11389_114+11390insAAAAAATATATATATATATATATATA TATATATA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02895.hp2 HG02145.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0283 a0001c0001t0004g0284 a0001c0001t0004g0283 a0001c0001t0004g0284	2	328	0.0061	34	c.114 others(53): Show c.114+11389_114+11390insAAAATATATATATATATATATATATA TATATATA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MARCHF10_chr17_62696314_62813314	62723559	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02129.hp1 HG02273.hp2 others(2): Show HG01069.hp2 HG02129.hp1 HG02273.hp2 NA18973.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 others(2): Show a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0199 a0001c0001t0001g0200	5	280	0.0179	34	c.210 others(51): Show c.2105-963_2105-962insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	MARCHF10	ENSG00000173838.12	transcript	ENST00000311269.10	protein_coding	7/10			chr17	TogoVar
MARCHF1_chr4_163519718_164389019	163599297	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0041 a0001c0006t0001g0041	1	102	0.0098	34	c.101 others(55): Show c.1010+12973_1010+12974insTATATATATATATATATATATATA TATATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	7/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163733204	T T	TACATACA others(27): Show TACATACACATGTATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0046 a0001c0002t0027g0046	1	102	0.0098	34	c.112 others(53): Show c.112-32342_112-32341insGTGTGTATATATATATATATATACAT GTGTATGT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163992766	C C	CTTATAAA others(27): Show CTTATAAAATATAAAATTATATTTTATATTTATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03486.hp2 HG02257.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0003 a0001c0001t0013 a0001c0002t0003	a0001c0001t0013g0015 a0001c0002t0003g0016 a0001c0001t0013g0015 a0001c0002t0003g0016	2	102	0.0196	34	c.-24 others(53): Show c.-247-4091_-247-4058dupATATAAATATAAAATATAATTTTATA TTTTATAA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	2/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164340405	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA19066.hp2 NA18963.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0003 a0001c0001t0001g0007	2	102	0.0196	34	c.-32 others(55): Show c.-323+43464_-323+43465insTATATATATATATATATATATATA TATATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164340405	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	102	0.0098	34	c.-32 others(55): Show c.-323+43464_-323+43465insTATATATATATATATATATATATA TATATATAAA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF3_chr5_126862714_127035558	126866880	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG02523.hp1 HG02818.hp2 others(2): Show HG01346.hp1 HG02523.hp1 HG02818.hp2 NA18949.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 others(1): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011	a0001c0001t0003g0028 a0001c0001t0003g0218 a0001c0001t0009g0240 others(2): Show a0001c0001t0003g0028 a0001c0001t0003g0218 a0001c0001t0009g0240 a0001c0001t0010g0006 a0001c0001t0011g0264	5	296	0.0169	34	c.37 others(45): Show c.3752_*3753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding		833		chr5	TogoVar
MARCHF3_chr5_126862714_127035558	126866897	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0233 a0001c0001t0036g0233	1	296	0.0034	34	c.37 others(45): Show c.3735_*3736insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding		816		chr5	TogoVar
MARCHF4_chr2_216252865_216377483	216300350	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATGTATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03516.hp1 HG02145.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0171 a0001c0001t0004g0172	2	330	0.0061	34	c.517 others(53): Show c.517-16622_517-16621insTATATACATATATATATATATATATA TATATATA	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3			chr2	TogoVar
MARK3_chr14_103380415_103508831	103467674	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	348	0.0029	34	c.111 others(51): Show c.1111-336_1111-335insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARS1_chr12_57483068_57521652	57493471	A A	ATATAATA others(27): Show ATATAATATATTATAATATATAATATATAATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	288	0.0035	34	c.770 others(51): Show c.770+2837_770+2838insTATAATATATAATATATAATATATTATA ATATAT	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MARS1_chr12_57483068_57521652	57493776	T T	TATATATT others(27): Show TATATATTATATATTATAATATATTATATATTATA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	288	0.0035	34	c.770 others(51): Show c.770+3149_770+3150insATATATTATATATTATAATATATTATAT ATTATA	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar

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