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
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0169 a0001c0001t0004g0169	1	334	0.0030	42	c.160 others(61): Show c.160-35376_160-35375insATATATATATATATATATATATATAT ATATATATATATTTTT	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(35): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02896.hp2 HG02647.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0026 a0001c0001t0008g0097 a0001c0001t0002g0026 a0001c0001t0008g0097	2	334	0.0060	42	c.160 others(61): Show c.160-35376_160-35375insATATATATATATATATATATATATAT TTTTTTTTTTTTTTTT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K2_chr2_127293668_127392975	127387398	G G	GCGCGCGC others(35): Show GCGCGCGCACACACACACACACACACGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02922.hp1 HG03471.hp2 HG02717.hp2 HG02922.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0027 a0001c0001t0016 a0001c0001t0027	a0001c0001t0016g0137 a0001c0001t0027g0136 a0001c0001t0027g0138 a0001c0001t0016g0137 a0001c0001t0027g0136 a0001c0001t0027g0138	3	320	0.0094	42	c.-66 others(55): Show c.-66+53_-66+54insTGTGTGTGTGTGCGCGCGTGTGTGTGTGTGTG TGTGCGCGCG	MAP3K2	ENSG00000169967.17	transcript	ENST00000682094.1	protein_coding	1/16			chr2	TogoVar
MAP4K4_chr2_101692707_101899690	101785735	T T	TCTCTCTC others(35): Show TCTCTCTCTCTCTCTCCCCCTCTCTCTCTCCCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0140 a0001c0001t0006g0140	1	310	0.0032	42	c.124 others(59): Show c.124-4970_124-4969insCCCCTCTCTCTCTCCCTCTCTCTCTCCC TCTCTCTCTCTCTC	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP4_chr3_47845695_48021416	47863937	T T	TGTGTGTG others(35): Show TGTGTGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0011 a0012c0013t0011	a0012c0013t0011g0222 a0012c0013t0011g0222	1	232	0.0043	42	c.650 others(61): Show c.6501+3308_6501+3309insCCACACACACACACACACACACACAC ACACACACCCACACAC	MAP4	ENSG00000047849.22	transcript	ENST00000683076.1	protein_coding	17/20			chr3	TogoVar
MAP6_chr11_75581918_75674038	75673386	C C	CTTTTTTT others(35): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	390	0.0026	42	c.-50 others(53): Show c.-5018_-5017insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	MAP6	ENSG00000171533.12	transcript	ENST00000304771.8	protein_coding		4349		chr11	TogoVar
MAP7_chr6_136337734_136555422	136456822	G G	GAAGAAGA others(35): Show GAAGAAGAAGAAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19043.hp2 NA18952.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0164 a0001c0001t0001g0145 a0001c0001t0001g0164	2	248	0.0081	42	c.68- others(59): Show c.68-35024_68-35023insTTCTTCTTCTTCTTCTTCTTCTTCCTTC TTCTTCTTCTTCTT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17			chr6	TogoVar
MAP7_chr6_136337734_136555422	136456822	G G	GAAGAAGA others(35): Show GAAGAAGAAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA19012.hp1 NA19074.hp1 NA18978.hp1 NA19012.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0123 a0001c0001t0001g0165 a0001c0001t0001g0173	3	248	0.0121	42	c.68- others(59): Show c.68-35024_68-35023insTTCTTCTTCTTCTTCTTCTTCTTCTTCC TTCTTCTTCTTCTT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17			chr6	TogoVar
MAP7_chr6_136337734_136555422	136456822	G G	GAAGAAGA others(35): Show GAAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0011 a0003c0003t0003g0025 a0003c0003t0003g0011 a0003c0003t0003g0025	2	248	0.0081	42	c.68- others(59): Show c.68-35024_68-35023insTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCCTTCTTCTT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17			chr6	TogoVar
MAPK6_chr15_52014219_52072375	52016070	G G	GCGCGCAA others(35): Show GCGCGCAAACACACACACACACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0037 a0001c0002t0020g0037	1	356	0.0028	42	c.-39 others(53): Show c.-3938_-3937insCGCGCAAACACACACACACACACACACACACACA CACACACA	MAPK6	ENSG00000069956.14	transcript	ENST00000261845.7	protein_coding		3148		chr15	TogoVar
MAPK8IP2_chr22_50595793_50618978	50612863	T T	TCCCGCCC others(35): Show TCCCGCCCCTGCCCGGCCTGGCCCCGCCCCTGCCCGGCCTGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(233): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19059.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0012 a0001c0015 a0001c0024 a0002c0005 a0003c0008 a0004c0014 a0008c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0028 a0001c0001t0029 a0001c0001t0044 a0001c0001t0045 a0001c0002t0002 a0001c0002t0007 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0001c0002t0022 a0001c0003t0001 a0001c0003t0011 a0001c0003t0041 a0001c0004t0002 a0001c0004t0008 a0001c0006t0002 a0001c0007t0001 a0001c0010t0002 a0001c0010t0042 a0001c0011t0002 a0001c0011t0033 a0001c0012t0002 a0001c0012t0034 a0001c0015t0016 a0001c0015t0038 a0001c0024t0001 a0002c0005t0001 a0002c0005t0020 a0003c0008t0001 a0004c0014t0001 a0004c0014t0040 a0008c0025t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(79): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0082 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0002g0012 a0001c0001t0002g0026 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0079 a0001c0001t0007g0003 a0001c0001t0007g0120 a0001c0001t0007g0126 a0001c0001t0008g0091 a0001c0001t0008g0093 a0001c0001t0028g0004 a0001c0001t0029g0004 a0001c0001t0044g0012 a0001c0001t0045g0008 a0001c0002t0002g0002 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0022 a0001c0002t0002g0025 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0072 a0001c0002t0002g0077 a0001c0002t0002g0086 a0001c0002t0002g0115 a0001c0002t0007g0005 a0001c0002t0007g0095 a0001c0002t0017g0022 a0001c0002t0018g0022 a0001c0002t0019g0002 a0001c0002t0022g0002 a0001c0003t0001g0080 a0001c0003t0001g0094 a0001c0003t0011g0011 a0001c0003t0041g0011 a0001c0004t0002g0002 a0001c0004t0008g0040 a0001c0004t0008g0092 a0001c0006t0002g0017 a0001c0006t0002g0068 a0001c0006t0002g0102 a0001c0007t0001g0009 a0001c0010t0002g0047 a0001c0010t0042g0046 a0001c0011t0002g0012 a0001c0011t0002g0087 a0001c0011t0033g0048 a0001c0012t0002g0041 a0001c0012t0002g0108 a0001c0012t0034g0109 a0001c0015t0016g0081 a0001c0015t0038g0011 a0001c0024t0001g0008 a0002c0005t0001g0001 a0002c0005t0020g0001 a0003c0008t0001g0001 a0003c0008t0001g0004 a0003c0008t0001g0024 a0004c0014t0001g0034 a0004c0014t0040g0004 a0008c0025t0001g0111	236	436	0.5413	42	c.21 others(53): Show c.2122_*2123insTGGCCCCGCCCCTGCCCGGCCTGGCCCCGCCCCT GCCCGGCC	MAPK8IP2	ENSG00000008735.14	transcript	ENST00000329492.6	protein_coding	12/12	2123	INFO_REALIGN_3_PRIME	chr22	TogoVar
MAPK8IP2_chr22_50595793_50618978	50612863	T T	TCCCGCCC others(35): Show TCCCGCCCGTGCCCGGCCTGGCCCCGCCCCTGCCCGGCCTGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0016 a0001c0002t0036g0016	1	436	0.0023	42	c.20 others(53): Show c.2091_*2092insGTGCCCGGCCTGGCCCCGCCCCTGCCCGGCCTGG CCCCGCCC	MAPK8IP2	ENSG00000008735.14	transcript	ENST00000329492.6	protein_coding	12/12	2092	INFO_REALIGN_3_PRIME	chr22	TogoVar
MAPK8IP2_chr22_50595793_50618978	50612883	G G	GCCCCGCC others(35): Show GCCCCGCCCCTGCCCGGCCTGGCCCCGCCCCTGCCGGCCTGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0035 a0001c0004t0035	a0001c0004t0035g0073 a0001c0004t0035g0073	1	436	0.0023	42	c.21 others(53): Show c.2122_*2123insTGGCCCCGCCCCTGCCGGCCTGGCCCCCGCCCCT GCCCGGCC	MAPK8IP2	ENSG00000008735.14	transcript	ENST00000329492.6	protein_coding	12/12	2123	INFO_REALIGN_3_PRIME	chr22	TogoVar
MAPK9_chr5_180228143_180297083	180288519	C C	CGAAGTGT others(35): Show CGAAGTGTGAAGTATAACTACTGTACACCTCCTGAGCACCCTG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	372	0.0027	42	c.-48 others(59): Show c.-48+3287_-48+3328dupCAGGGTGCTCAGGAGGTGTACAGTAGTT ATACTTCACACTTC	MAPK9	ENSG00000050748.18	transcript	ENST00000452135.7	protein_coding	1/11			chr5	TogoVar
MAPKAP1_chr9_125432394_125712208	125693663	A A	ATATACAC others(35): Show ATATACACGTATACATACACACACATACACGTATATATACACG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG01255.hp2 others(29): Show HG00544.hp2 HG00621.hp2 HG01255.hp2 HG01257.hp2 HG01358.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp2 HG02074.hp1 HG02129.hp1 HG04228.hp1 NA18939.hp1 NA18940.hp1 NA18947.hp2 NA18956.hp2 NA18962.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp1 NA18979.hp1 NA18986.hp1 NA18988.hp2 NA18994.hp1 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0013 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0017 a0001c0002t0001	a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 others(29): Show a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0013g0267 a0001c0001t0017g0293 a0001c0002t0001g0294 a0001c0002t0001g0298	32	300	0.1067	42	c.-70 others(61): Show c.-70+13307_-70+13308insCGTGTATATATACGTGTATGTGTGTG TATGTATACGTGTATA	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	1/11			chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125693688	T T	TATATATA others(35): Show TATATATACACGTATATATACACATATATACACGTATATACAC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	300	0.0033	42	c.-70 others(61): Show c.-70+13241_-70+13282dupGTGTATATACGTGTATATATGTGTAT ATATACGTGTATATAT	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	1/11			chr9	TogoVar
MAPT_chr17_45889554_46033334	45926911	G G	GTGTGTAT others(35): Show GTGTGTATATATATACACATATATACACATATATATACATATA	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA19043.hp1 HG03831.hp2 NA19043.hp1	a0002 a0014 a0002 a0014	a0002c0003 a0014c0013 a0002c0003 a0014c0013	a0002c0003t0001 a0014c0013t0007 a0002c0003t0001 a0014c0013t0007	a0002c0003t0001g0101 a0014c0013t0007g0040 a0002c0003t0001g0101 a0014c0013t0007g0040	2	253	0.0079	42	c.-18 others(61): Show c.-18+32242_-18+32283dupCATATATACACATATATATACATATA TGTGTATATATATACA	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MARCHF1_chr4_163519718_164389019	163894755	T T	TATATATA others(35): Show TATATATATATGCATGTGATGCATATATATATGCATGTGATGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19009.hp2 HG02055.hp2 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0005 a0002c0004t0003 a0001c0001t0005 a0002c0004t0003	a0001c0001t0005g0029 a0002c0004t0003g0077 a0001c0001t0005g0029 a0002c0004t0003g0077	2	102	0.0196	42	c.-38 others(61): Show c.-38-40587_-38-40586insGCATCACATGCATATATATATGCATC ACATGCATATATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163894908	T T	TATATATA others(35): Show TATATATATGCATGTGATGCATATATATATATGCATGTGATGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0045 a0002c0003t0005g0045	1	102	0.0098	42	c.-38 others(61): Show c.-38-40740_-38-40739insGCATCACATGCATATATATATATGCA TCACATGCATATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163894958	T T	TATATATA others(35): Show TATATATATGCATGTGATGCATATATATATGCATGTGATGCAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0043 a0001c0001t0007g0043	1	102	0.0098	42	c.-38 others(61): Show c.-38-40790_-38-40789insGTGCATCACATGCATATATATATGCA TCACATGCATATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164340405	T T	TTTTATAT others(35): Show TTTTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	102	0.0098	42	c.-32 others(63): Show c.-323+43464_-323+43465insTATATATATATATATATATATATA TATATATATATATATAAA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARK3_chr14_103380415_103508831	103467674	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	348	0.0029	42	c.111 others(59): Show c.1111-336_1111-335insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARS1_chr12_57483068_57521652	57493591	T T	TATTATAT others(35): Show TATTATATATAATTAATATATAATATACAATATATATTATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0182 a0001c0003t0001g0182	1	288	0.0035	42	c.770 others(59): Show c.770+2947_770+2948insATTATATATAATTAATATATAATATACA ATATATATTATATA	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20			chr12	TogoVar
MAST4_chr5_66591393_67174593	67078849	T T	TATATATA others(35): Show TATATATATTTATATAAATATATATTTATATATATTTATATAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0038 a0001c0002t0005g0038	1	108	0.0093	42	c.764 others(61): Show c.764-11307_764-11306insATTTATATAAATATATATTTATATAT ATTTATATAAATATAT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67078913	T T	TAAATAAA others(35): Show TAAATAAATATATATATAATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0001 a0001c0008t0007g0001	1	108	0.0093	42	c.764 others(61): Show c.764-11248_764-11247insAATAAATATATATATAATATATATAT ATATATATATATATAA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MBD3L2B_chr19_7013969_7026431	7025871	A A	AATTATGT others(35): Show AATTATGTGTATCTGTGTTATTGAATTATCTGTATTGATTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0011 a0003c0004t0001g0011	1	350	0.0029	42	c.-44 others(53): Show c.-4475_-4474insCATAATCAATACAGATAATTCAATAACACAGATA CACATAAT	MBD3L2B	ENSG00000196589.8	transcript	ENST00000636986.2	protein_coding		4441		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035118	A A	ATATATAT others(35): Show ATATATATATATTATATATTATAATATTATATATAATACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0003 a0003c0003t0002g0003	1	262	0.0038	42	c.27 others(53): Show c.2742_*2743insATATGTATTATATATAATATTATAATATATAATA TATATATA	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		2630		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035199	T T	TAATATAT others(35): Show TAATATATACTATATCGGTATATTATATAATTATATATAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02886.hp1 HG02886.hp2 others(2): Show HG02280.hp1 HG02886.hp1 HG02886.hp2 HG03540.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0005c0010t0001 a0001c0001t0001 a0001c0001t0002 a0005c0010t0001	a0001c0001t0001g0018 a0001c0001t0002g0014 a0005c0010t0001g0019 a0001c0001t0001g0018 a0001c0001t0002g0014 a0005c0010t0001g0019	5	262	0.0191	42	c.26 others(53): Show c.2661_*2662insTAATTATATATAATTATATAATATACCGATATAG TATATATT	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		2549		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035207	A A	ACTATATC others(35): Show ACTATATCGGTATATTATATAATTATATATAATTACATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	262	0.0038	42	c.26 others(53): Show c.2653_*2654insAATATATGTAATTATATATAATTATATAATATAC CGATATAG	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		2541		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035118	A A	ATATATAT others(35): Show ATATATATATATTATATATTATAATATTATATATAATACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0003 a0004c0007t0001g0003	1	249	0.0040	42	c.22 others(53): Show c.2224_*2225insTATATATATATTATATATTATAATATTATATATA ATACATAT	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2108		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035199	T T	TAATATAT others(35): Show TAATATATACTATATCGGTATATTATATAATTATATATAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG03540.hp2 HG02280.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0009 a0001c0001t0002g0042 a0001c0001t0001g0009 a0001c0001t0002g0042	2	249	0.0080	42	c.23 others(53): Show c.2305_*2306insAATATATACTATATCGGTATATTATATAATTATA TATAATTA	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2189		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035207	A A	ACTATATC others(35): Show ACTATATCGGTATATTATATAATTATATATAATTACATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	249	0.0040	42	c.23 others(53): Show c.2313_*2314insCTATATCGGTATATTATATAATTATATATAATTA CATATATT	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2197		chr19	TogoVar
MBIP_chr14_36293564_36325637	36294279	T T	TAAAAAAA others(35): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0018 a0002c0004t0002g0018	1	312	0.0032	42	c.48 others(53): Show c.4803_*4804insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	MBIP	ENSG00000151332.20	transcript	ENST00000416007.9	protein_coding		4284		chr14	TogoVar
MBNL3_chrX_132364320_132494038	132396739	T T	TATATATA others(35): Show TATATATATTCATATATATTCATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01175.hp1 others(2): Show HG01167.hp1 HG01169.hp2 HG01175.hp1 HG02257.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0023 others(1): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0023 a0001c0001t0024	a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0013g0103 others(2): Show a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0013g0103 a0001c0001t0023g0161 a0001c0001t0024g0155	5	191	0.0262	42	c.343 others(59): Show c.343-4406_343-4405insGAATATATATATGAATATATATGAATAT ATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBOAT1_chr6_20094684_20217469	20111835	C C	CATATATA others(35): Show CATATATATACATATATATACATATATATATACATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0137 a0003c0003t0001g0137	1	336	0.0030	42	c.120 others(61): Show c.1209+1040_1209+1041insATATATATATGTATATATATATGTAT ATATATGTATATATAT	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	11/12			chr6	TogoVar
MBP_chr18_76973833_77137783	76975181	T T	TTTTCTTT others(35): Show TTTTCTTTTCTTTTCTTTTCTTCTTTTCTTTTCTTTTCTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG03579.hp1 HG02630.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0011 a0001c0001t0011 a0001c0002t0011	a0001c0001t0011g0140 a0001c0002t0011g0129 a0001c0001t0011g0140 a0001c0002t0011g0129	2	396	0.0051	42	c.52 others(53): Show c.5245_*5246insGAAAAGAAAAGAAAAGAAAAGAAGAAAAGAAAAG AAAAGAAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3651		chr18	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(35): Show AAAAAAAAAATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0298 a0001c0001t0046g0298	1	340	0.0029	42	c.41 others(53): Show c.4153_*4154insATATATATATATATATATATATATATATATATAT TTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179482	T T	TTATATAT others(35): Show TTATATATATATATATATTTTTATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0241 a0001c0001t0089g0241	1	340	0.0029	42	c.10 others(53): Show c.1093_*1094insTATATATATATATATATATATAAAAATATATATA TATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1093		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179488	A A	ATATATAT others(35): Show ATATATATATATTTTTATATATATATATATATATATTTATATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0239 a0001c0001t0093g0239	1	340	0.0029	42	c.10 others(53): Show c.1087_*1088insAATATAAATATATATATATATATATATAAAAATA TATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1087		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51190750	A A	AAAAAAAA others(35): Show AAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	340	0.0029	42	c.176 others(61): Show c.1768+1452_1768+1453insATATATATATATATATATATATATAT ATATATATATTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	16/16			chr17	TogoVar
MBTPS2_chrX_21834617_21890423	21862933	C C	CATATATA others(35): Show CATATATATATAAACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0038	1	308	0.0033	42	c.671 others(59): Show c.671-5523_671-5522insAACATATATATATATATATATATATATA TATATATATATATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	428	0.0023	42	c.-25 others(53): Show c.-2544_-2543insAAAAAAAAAAAAAAAATATATATATATATATATA TATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MCC_chr5_113017106_113493453	113333838	T T	TATATGTA others(35): Show TATATGTACATATATGTACATATGTACATATATGTATATATAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02818.hp1 HG03654.hp2 others(4): Show HG01070.hp2 HG02818.hp1 HG03654.hp2 HG04199.hp2 NA18957.hp2 NA18972.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0005 a0003c0015 a0003c0020 a0003c0005 a0003c0015 a0003c0020	a0003c0005t0001 a0003c0005t0019 a0003c0005t0030 others(2): Show a0003c0005t0001 a0003c0005t0019 a0003c0005t0030 a0003c0015t0036 a0003c0020t0003	a0003c0005t0001g0019 a0003c0005t0001g0020 a0003c0005t0001g0021 others(4): Show a0003c0005t0001g0019 a0003c0005t0001g0020 a0003c0005t0001g0021 a0003c0005t0019g0027 a0003c0005t0030g0024 a0003c0015t0036g0018 a0003c0020t0003g0022	7	160	0.0438	42	c.627 others(59): Show c.627+6680_627+6681insGTATATATACATATATGTACATATGTAC ATATATGTACATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCF2L2_chr3_183173041_183433619	183298765	G G	GCGCGCGC others(35): Show GCGCGCGCGCGCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp2 HG02559.hp1 HG02622.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0002 a0010c0009t0001 a0010c0009t0002	a0010c0009t0001g0150 a0010c0009t0002g0130 a0010c0009t0001g0150 a0010c0009t0002g0130	2	176	0.0114	42	c.130 others(61): Show c.1305+1239_1305+1240insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGCGCGCGCGCG	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	11/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183298765	G G	GCGCGCGC others(35): Show GCGCGCGCGCGCGCGCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0013 a0009c0010t0013	a0009c0010t0013g0116 a0009c0010t0013g0116	1	176	0.0057	42	c.130 others(61): Show c.1305+1239_1305+1240insTGTGTGTGTGTGTGTGTGTGTGTGTG TGCGCGCGCGCGCGCG	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	11/29			chr3	TogoVar
MCM9_chr6_118808455_118940159	118843644	A A	ATATATAT others(35): Show ATATATATATATATATATACACGTATATATATATATATACGTG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0002 a0014c0021t0002	a0014c0021t0002g0041 a0014c0021t0002g0041	1	348	0.0029	42	c.132 others(63): Show c.1325+12726_1325+12727insCACGTATATATATATATATACGTG TATATATATATATATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843646	A A	ATATATAT others(35): Show ATATATATATATATATACACGTATATATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp1 HG02258.hp2 others(2): Show HG00642.hp2 HG00741.hp1 HG02258.hp2 HG02486.hp2 HG03540.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0002 a0006c0008t0002 a0001c0001t0002 a0006c0008t0002	a0001c0001t0002g0083 a0001c0001t0002g0084 a0006c0008t0002g0085 others(2): Show a0001c0001t0002g0083 a0001c0001t0002g0084 a0006c0008t0002g0085 a0006c0008t0002g0091 a0006c0008t0002g0092	5	348	0.0144	42	c.132 others(63): Show c.1325+12724_1325+12725insCACGTATATATATATATATATACG TGTATATATATATATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843646	A A	ATATATAT others(35): Show ATATATATATATATATATACACGTATATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG03139.hp2 HG03225.hp2 HG00597.hp1 HG03139.hp2 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0005 a0002c0003t0002g0067 a0001c0001t0002g0005 a0002c0003t0002g0067	3	348	0.0086	42	c.132 others(63): Show c.1325+12724_1325+12725insCACGTATATATATATATATACGTG TATATATATATATATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCOLN1_chr19_7517624_7539009	7518557	G G	GAGAGAGA others(35): Show GAGAGAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01169.hp2 HG01261.hp1 others(3): Show HG00558.hp1 HG01169.hp2 HG01261.hp1 HG01928.hp2 HG02723.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0002t0001g0026 a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0002t0001g0026	6	414	0.0145	42	c.-41 others(53): Show c.-4194_-4193insAGAGAGAAAGAAAGAAAGAAAAAGAAAGAAAGAA AGAAAGAA	MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding		4066		chr19	TogoVar
MCOLN2_chr1_84920583_85002113	84922438	G G	GTGTGTGT others(35): Show GTGTGTGTATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0005 a0008c0012t0005	a0008c0012t0005g0016 a0008c0012t0005g0016	1	350	0.0029	42	c.42 others(53): Show c.4246_*4247insTATATATATATATATATATATATATATATATATA TACACACA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3144		chr1	TogoVar

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Search Results (Total: 5093 hits)