Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MB21D2_chr3_192791815_192922856	192899821	G G	GTGTGTGG others(21): Show GTGTGTGGTAGTGTGGCTGACTGAGCTCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(152): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01255.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18941.hp2 NA18943.hp2 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18962.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19057.hp1 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19072.hp2 NA19086.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0008 others(5): Show a0001c0001 a0001c0002 a0001c0008 a0002c0010 a0003c0004 a0004c0003 a0005c0005 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0002t0003 a0001c0008t0004 a0002c0010t0001 a0003c0004t0001 a0004c0003t0001 a0005c0005t0004 a0007c0009t0005	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0017 others(152): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0020 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0085 a0001c0001t0002g0099 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0109 a0001c0001t0002g0116 a0001c0001t0002g0119 a0001c0001t0002g0124 a0001c0001t0002g0128 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0156 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0289 a0001c0001t0002g0293 a0001c0001t0004g0107 a0001c0001t0004g0118 a0001c0001t0004g0129 a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0152 a0001c0001t0004g0265 a0001c0001t0005g0108 a0001c0001t0005g0127 a0001c0001t0005g0130 a0001c0001t0005g0134 a0001c0001t0005g0137 a0001c0001t0005g0143 a0001c0001t0005g0189 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0006g0074 a0001c0001t0007g0140 a0001c0001t0007g0155 a0001c0001t0007g0157 a0001c0001t0008g0097 a0001c0001t0009g0112 a0001c0001t0011g0154 a0001c0001t0012g0067 a0001c0001t0013g0141 a0001c0001t0015g0071 a0001c0002t0003g0014 a0001c0002t0003g0016 a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0003g0022 a0001c0002t0003g0024 a0001c0002t0003g0031 a0001c0002t0003g0040 a0001c0002t0003g0044 a0001c0002t0003g0049 a0001c0002t0003g0063 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0081 a0001c0002t0003g0087 a0001c0002t0003g0111 a0001c0008t0004g0091 a0002c0010t0001g0047 a0003c0004t0001g0075 a0004c0003t0001g0004 a0005c0005t0004g0144 a0007c0009t0005g0158	155	298	0.5201	28	c.211 others(47): Show c.211+17808_211+17809insTGAGCTCAGTCAGCCACACTACCACA CA	MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1			chr3	TogoVar
MB21D2_chr3_192791815_192922856	192916098	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02976.hp1 HG02630.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0161 a0001c0001t0004g0162	2	298	0.0067	28	c.211 others(45): Show c.211+1531_211+1532insTATATATATATATATATATATATATATA	MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1			chr3	TogoVar
MBD2_chr18_54146606_54229669	54168572	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0108 a0001c0001t0004g0108	1	300	0.0033	28	c.841 others(45): Show c.841-2407_841-2406insATATATATATATATATATATATATATAT	MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding	3/6			chr18	TogoVar
MBD2_chr18_54146606_54229669	54180897	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0257 a0001c0001t0007g0257	1	300	0.0033	28	c.840 others(45): Show c.840+7976_840+7977insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding	3/6			chr18	TogoVar
MBD2_chr18_54146606_54229669	54226998	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG02523.hp2 HG00323.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0032 a0001c0001t0008g0034 a0001c0001t0008g0032 a0001c0001t0008g0034	2	300	0.0067	28	c.-24 others(39): Show c.-2440_-2439insATATATATATATATATATATATATATAT	MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding		2330		chr18	TogoVar
MBD3L3_chr19_7051207_7063676	7060471	T T	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	288	0.0035	28	c.-18 others(39): Show c.-1894_-1867dupGGAAGGAAGGAAGGAAGGAAGGAAGGAA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		1796		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035122	A A	ATTATATA others(21): Show ATTATATATATATTATATTATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0026 a0010c0015t0001g0026	1	262	0.0038	28	c.27 others(39): Show c.2738_*2739insATATATATATAATATAATATATATATAA	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		2626		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7028708	C C	CAGGAAGG others(21): Show CAGGAAGGAAGGAAGGAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG03540.hp2 NA19005.hp2 HG02055.hp2 HG03540.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0001 a0001c0001t0002 a0001c0020t0001 a0001c0001t0001 a0001c0001t0002 a0001c0020t0001	a0001c0001t0001g0002 a0001c0001t0002g0042 a0001c0020t0001g0002 a0001c0001t0001g0002 a0001c0001t0002g0042 a0001c0020t0001g0002	3	249	0.0121	28	c.-19 others(39): Show c.-1904_-1903insAGGAAGGAAGGAAGGAAGGAAGGAAGGA	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		1869		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035122	A A	ATTATATA others(21): Show ATTATATATATATTATATTATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	249	0.0040	28	c.22 others(39): Show c.2228_*2229insTTATATATATATTATATTATATATATAT	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2112		chr19	TogoVar
MBD5_chr2_148016091_148521971	148132335	T T	TATATATA others(21): Show TATATATATATACACATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	188	0.0053	28	c.-92 others(49): Show c.-924-46354_-924-46353insCACATATATATATATACATATATA TATA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148294500	A A	AGTTTTTT others(21): Show AGTTTTTTTTTTTTTGTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	188	0.0053	28	c.-67 others(49): Show c.-679-47700_-679-47699insGTTTTTTTTTTTTTGTTTTTTTTT TTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148294501	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	188	0.0053	28	c.-67 others(49): Show c.-679-47700_-679-47699insGTTTTTTTTTTTTTTTTTTTTTTT TTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148294501	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03225.hp2 HG01884.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0172 a0001c0001t0002g0175	2	188	0.0106	28	c.-67 others(49): Show c.-679-47693_-679-47692insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148294506	T T	TTTTTTTT others(21): Show TTTTTTTTTGTTTTTTTTTTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01243.hp1 HG02109.hp2 others(6): Show HG00140.hp1 HG01243.hp1 HG02109.hp2 HG02280.hp1 HG02647.hp2 HG02818.hp2 HG03139.hp2 NA19030.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0014 a0001c0001t0020	a0001c0001t0002g0060 a0001c0001t0002g0093 a0001c0001t0002g0108 others(6): Show a0001c0001t0002g0060 a0001c0001t0002g0093 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0003g0073 a0001c0001t0003g0111 a0001c0001t0007g0161 a0001c0001t0014g0018 a0001c0001t0020g0109	9	188	0.0479	28	c.-67 others(49): Show c.-679-47700_-679-47699insGTTTTTTTTTTTTTGTTTTGTTTT TTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148296863	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0166 a0001c0001t0013g0166	1	188	0.0053	28	c.-67 others(49): Show c.-679-45351_-679-45350insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13			chr2	TogoVar
MBIP_chr14_36293564_36325637	36294279	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02615.hp2 HG02896.hp2 HG02572.hp1 HG02615.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0006 a0002c0002t0002 a0002c0002t0006	a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0006g0015 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0006g0015	3	312	0.0096	28	c.48 others(39): Show c.4803_*4804insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MBIP	ENSG00000151332.20	transcript	ENST00000416007.9	protein_coding		4284		chr14	TogoVar
MBNL2_chr13_97217333_97399120	97315814	G G	GCTCGTGG others(21): Show GCTCGTGGGTGAGGATGTGGAAGGCCTTA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	254	0.0039	28	c.175 others(47): Show c.175-18434_175-18407dupACTCGTGGGTGAGGATGTGGAAGGCC TT	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL3_chrX_132364320_132494038	132396826	T T	TCATATAT others(21): Show TCATATATACATATATATATTCATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	191	0.0052	28	c.343 others(45): Show c.343-4493_343-4492insTATATATGAATATATATATGTATATATG	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396829	T T	TATATATT others(21): Show TATATATTCATATATACATATATATATTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0104 a0001c0001t0013g0104	1	191	0.0052	28	c.343 others(45): Show c.343-4496_343-4495insGAATATATATATGTATATATGAATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396914	A A	ATTCATAT others(21): Show ATTCATATATACATATATACATATATATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03486.hp2 HG02486.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0109 a0001c0001t0010g0110 a0001c0001t0010g0109 a0001c0001t0010g0110	2	191	0.0105	28	c.343 others(45): Show c.343-4581_343-4580insAATATATATGTATATATGTATATATGAA	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBOAT1_chr6_20094684_20217469	20192995	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0070 a0002c0002t0070	a0002c0002t0070g0306 a0002c0002t0070g0306	1	336	0.0030	28	c.99+ others(45): Show c.99+19113_99+19140dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT7_chr19_54168415_54194580	54181711	A A	AAGGGAGG others(21): Show AAGGGAGGGAAGGAGGGAAGGAAGGAGGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02886.hp2 HG02922.hp1 others(2): Show HG01891.hp2 HG02886.hp2 HG02922.hp1 HG03471.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0015 a0001c0001t0005g0004 a0001c0001t0005g0365 others(1): Show a0001c0001t0001g0015 a0001c0001t0005g0004 a0001c0001t0005g0365 a0001c0001t0005g0368	5	373	0.0134	28	c.494 others(43): Show c.494-606_494-579dupCCCTCCTTCCTTCCCTCCTTCCCTCCCT	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	5/7			chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54181761	A A	AGGAGGGA others(21): Show AGGAGGGAGGGAAGGAGGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0305 a0001c0002t0001g0305	1	373	0.0027	28	c.494 others(43): Show c.494-656_494-629dupCTCCTTCCTTCCCTCCTTCCCTCCCTCC	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	5/7			chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54188015	C C	CAAAAAGA others(21): Show CAAAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	373	0.0027	28	c.206 others(43): Show c.206+201_206+202insTTCTTTCTTTCTTTCTTTCTTTCTTTTT	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	3/7			chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54188015	C C	CAGAAAGA others(21): Show CAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0356 a0001c0001t0001g0356	1	373	0.0027	28	c.206 others(43): Show c.206+174_206+201dupTTCTTTCTTTCTTTCTTTCTTTCTTTCT	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	3/7			chr19	TogoVar
MBP_chr18_76973833_77137783	76975154	C C	CCTTTTCT others(21): Show CCTTTTCTTTTCTTTTCTTCTTTTCTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp2 HG01975.hp2 others(13): Show HG01934.hp1 HG01934.hp2 HG01975.hp2 HG02055.hp2 HG02280.hp2 HG03927.hp1 HG06807.hp2 NA18939.hp2 NA18950.hp1 NA18960.hp1 NA18960.hp2 NA18975.hp2 NA18979.hp2 NA19010.hp1 NA19043.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0019	a0001c0001t0001g0164 a0001c0001t0002g0256 a0001c0001t0002g0260 others(13): Show a0001c0001t0001g0164 a0001c0001t0002g0256 a0001c0001t0002g0260 a0001c0001t0022g0204 a0001c0002t0001g0089 a0001c0002t0001g0156 a0001c0002t0001g0195 a0001c0002t0002g0253 a0001c0002t0002g0315 a0001c0002t0007g0336 a0001c0002t0007g0337 a0001c0002t0007g0351 a0001c0002t0007g0360 a0001c0002t0007g0379 a0001c0002t0007g0383 a0001c0002t0019g0276	16	396	0.0404	28	c.52 others(39): Show c.5272_*5273insAAAAGAAAAGAAGAAAAGAAAAGAAAAG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3678		chr18	TogoVar
MBP_chr18_76973833_77137783	77027982	T T	TTTTATTT others(21): Show TTTTATTTATTTATTTATTTATTTATATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0152 a0001c0001t0009g0152	1	396	0.0025	28	c.140 others(47): Show c.140-10715_140-10714insTATATAAATAAATAAATAAATAAATA AA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77027982	T T	TTTTATTT others(21): Show TTTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00597.hp1 others(22): Show HG00099.hp1 HG00438.hp2 HG00597.hp1 HG01257.hp2 HG01261.hp2 HG02109.hp1 HG02258.hp1 HG02451.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG03017.hp2 HG03209.hp2 NA18940.hp2 NA18957.hp2 NA18959.hp2 NA18964.hp1 NA18967.hp1 NA18981.hp2 NA18999.hp2 NA19007.hp2 NA19043.hp1 NA19080.hp2 NA19240.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0020 a0001c0001t0022 a0001c0001t0035 a0003c0004t0013	a0001c0001t0001g0007 a0001c0001t0001g0082 a0001c0001t0001g0102 others(22): Show a0001c0001t0001g0007 a0001c0001t0001g0082 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0174 a0001c0001t0002g0261 a0001c0001t0002g0281 a0001c0001t0002g0316 a0001c0001t0003g0042 a0001c0001t0003g0092 a0001c0001t0003g0101 a0001c0001t0004g0137 a0001c0001t0008g0352 a0001c0001t0009g0080 a0001c0001t0010g0069 a0001c0001t0010g0125 a0001c0001t0010g0175 a0001c0001t0010g0209 a0001c0001t0011g0148 a0001c0001t0011g0206 a0001c0001t0014g0268 a0001c0001t0020g0301 a0001c0001t0022g0204 a0001c0001t0035g0203 a0003c0004t0013g0138	25	396	0.0631	28	c.140 others(47): Show c.140-10715_140-10714insTAAATAAATAAATAAATAAATAAATA AA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0048 a0001c0001t0043g0048	1	340	0.0029	28	c.41 others(39): Show c.4153_*4154insATATATATATATATTTTTTTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG04199.hp2 NA18994.hp1 others(1): Show HG02300.hp1 HG04199.hp2 NA18994.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 others(1): Show a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0135	a0001c0001t0052g0268 a0001c0001t0054g0304 a0001c0001t0055g0199 others(1): Show a0001c0001t0052g0268 a0001c0001t0054g0304 a0001c0001t0055g0199 a0001c0001t0135g0214	4	340	0.0118	28	c.41 others(39): Show c.4153_*4154insATATATATATATATATATTTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(21): Show AAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0327 a0001c0001t0073g0327	1	340	0.0029	28	c.41 others(39): Show c.4153_*4154insATATATATATATATATATATTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0303 a0001c0001t0107g0303	1	340	0.0029	28	c.41 others(39): Show c.4153_*4154insATATATATATATATATATATATTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0276 a0001c0001t0021g0276	1	340	0.0029	28	c.41 others(39): Show c.4153_*4154insATATATATATATATATATATATATTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179482	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATTTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 HG02132.hp1 HG00609.hp2 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0120 a0001c0001t0121 a0001c0001t0120 a0001c0001t0121	a0001c0001t0120g0293 a0001c0001t0121g0195 a0001c0001t0120g0293 a0001c0001t0121g0195	2	340	0.0059	28	c.10 others(39): Show c.1093_*1094insTAAATATATATATATATATATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1093		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179482	T T	TTATATAT others(21): Show TTATATATATATATATATATATATTTATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp2 HG01192.hp1 HG01928.hp1 others(1): Show HG01070.hp2 HG01192.hp1 HG01928.hp1 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0276 a0001c0001t0021g0306 a0001c0001t0021g0308 others(1): Show a0001c0001t0021g0276 a0001c0001t0021g0306 a0001c0001t0021g0308 a0001c0001t0021g0324	4	340	0.0118	28	c.10 others(39): Show c.1093_*1094insTATAAATATATATATATATATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1093		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179487	T T	TATATATA others(21): Show TATATATATATATATATATTTATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0137 a0001c0001t0137	a0001c0001t0137g0307 a0001c0001t0137g0307	1	340	0.0029	28	c.10 others(39): Show c.1088_*1089insGTATATATAAATATATATATATATATAT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1088		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179492	A A	ATATATAT others(21): Show ATATATATATTTATATATATATATATATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0300 a0001c0001t0085g0300	1	340	0.0029	28	c.10 others(39): Show c.1083_*1084insCATATATATATATATATAAATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1083		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179494	A A	ATATATTT others(21): Show ATATATTTTTATATATATATATATATATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp1 NA18949.hp1 NA18989.hp1 others(1): Show HG01081.hp1 NA18949.hp1 NA18989.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0051 a0001c0001t0016g0203 a0001c0001t0016g0222 others(1): Show a0001c0001t0016g0051 a0001c0001t0016g0203 a0001c0001t0016g0222 a0001c0001t0016g0235	4	340	0.0118	28	c.10 others(39): Show c.1081_*1082insAATATATATATATATATATAAAAATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1081		chr17	TogoVar
MBTPS1_chr16_84048763_84121942	84050682	G G	GCATGTGG others(21): Show GCATGTGGGTAAGGAGAGCTGCAAGGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	424	0.0024	28	c.37 others(39): Show c.3766_*3767insGGGCCTTGCAGCTCTCCTTACCCACATG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		3080		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84050765	C C	CCGGCATG others(21): Show CCGGCATGTGGGTAAGGAGAGCTGCAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0329 a0001c0001t0014g0329	1	424	0.0024	28	c.36 others(39): Show c.3683_*3684insCCTTGCAGCTCTCCTTACCCACATGCCG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2997		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84050822	C C	CCCGCATG others(21): Show CCCGCATGTGGGTAAGGAGAGCTGCAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0035 a0001c0009t0035	a0001c0009t0035g0243 a0001c0009t0035g0243	1	424	0.0024	28	c.36 others(39): Show c.3626_*3627insCCTTGCAGCTCTCCTTACCCACATGCGG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2940		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84050881	G G	GCATGTGG others(21): Show GCATGTGGGTAAGGAGAGCTGCAAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02809.hp1 HG01891.hp1 HG02809.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0034 a0001c0004t0002 a0001c0004t0034	a0001c0004t0002g0140 a0001c0004t0034g0234 a0001c0004t0002g0140 a0001c0004t0034g0234	2	424	0.0047	28	c.35 others(39): Show c.3567_*3568insTGGCCTTGCAGCTCTCCTTACCCACATG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2881		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84051617	C C	CCCGCATG others(21): Show CCCGCATGTGGGTAAGGAGAGCTGCAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 NA19010.hp1 NA19057.hp2 others(1): Show HG02683.hp1 NA19010.hp1 NA19057.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0039 a0001c0001t0001g0076 a0001c0001t0001g0094 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0076 a0001c0001t0001g0094 a0001c0001t0007g0077	4	424	0.0094	28	c.28 others(39): Show c.2831_*2832insCCTTGCAGCTCTCCTTACCCACATGCGG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2145		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84051815	G G	GCCGCATG others(21): Show GCCGCATGTGCGTAAGGACAGCTGCAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00558.hp1 others(76): Show HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01168.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01943.hp2 HG01952.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02132.hp2 HG02148.hp2 HG02258.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02970.hp2 HG02976.hp2 HG03225.hp1 HG03490.hp1 HG03710.hp1 HG03834.hp1 HG04199.hp1 NA18612.hp2 NA18940.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18956.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18985.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA19003.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19057.hp2 NA19063.hp2 NA19065.hp2 NA19070.hp2 NA19077.hp1 NA19081.hp2 NA19084.hp1 NA19088.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0012 others(1): Show a0001c0001 a0001c0002 a0001c0012 a0009c0017	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0016 a0001c0001t0025 a0001c0001t0026 a0001c0002t0009 a0001c0002t0016 a0001c0012t0044 a0009c0017t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(73): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0203 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0007g0077 a0001c0001t0009g0013 a0001c0001t0009g0275 a0001c0001t0009g0280 a0001c0001t0016g0390 a0001c0001t0025g0387 a0001c0001t0026g0201 a0001c0002t0009g0306 a0001c0002t0016g0384 a0001c0002t0016g0385 a0001c0012t0044g0396 a0009c0017t0001g0177	79	424	0.1863	28	c.26 others(39): Show c.2633_*2634insTCTTGCAGCTGTCCTTACGCACATGCGG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		1947		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84051930	C C	CCCGCATG others(21): Show CCCGCATGTGGGTAAGGAGAGCTGCAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	424	0.0024	28	c.25 others(39): Show c.2518_*2519insCCTTGCAGCTCTCCTTACCCACATGCGG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		1832		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84051940	C C	CGTAAGGA others(21): Show CGTAAGGAGAGCTGCAAGGCCGCATGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0329 a0001c0001t0014g0329	1	424	0.0024	28	c.25 others(39): Show c.2508_*2509insCCACATGCGGCCTTGCAGCTCTCCTTAC	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		1822		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84052104	T T	TATGTGGG others(21): Show TATGTGGGTAAGGAGAGCTGCAAGGCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0141 a0001c0004t0002g0141	1	424	0.0024	28	c.23 others(39): Show c.2344_*2345insGCGGCCTTGCAGCTCTCCTTACCCACAT	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		1658		chr16	TogoVar
MBTPS2_chrX_21834617_21890423	21862933	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03041.hp2 NA18952.hp1 others(4): Show HG02735.hp1 HG03041.hp2 NA18952.hp1 NA18965.hp1 NA19004.hp1 NA19064.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0001t0001 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0216 a0001c0002t0002g0064 a0001c0002t0002g0080 others(3): Show a0001c0001t0001g0216 a0001c0002t0002g0064 a0001c0002t0002g0080 a0001c0002t0002g0118 a0001c0002t0002g0130 a0001c0002t0004g0007	7	308	0.0227	28	c.671 others(45): Show c.671-5526_671-5499dupTATATATATATATATATATATATATATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
MC1R_chr16_89913862_89925972	89922861	T T	TGGGGGAG others(21): Show TGGGGGAGGTAGGTAAAGGCTGGCCCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	396	0.0025	28	c.26 others(39): Show c.2649_*2650insGGGGGAGGTAGGTAAAGGCTGGCCCAGG	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		1890		chr16	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	1	428	0.0023	28	c.-25 others(39): Show c.-2544_-2543insAAAATATATATATATATATATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar

Search by Variant

Search

Search Results