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
MAST4_chr5_66591393_67174593	66825261	GACACACA others(13): Show GACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02559.hp2 HG02572.hp2 others(1): Show HG01257.hp1 HG02559.hp2 HG02572.hp2 NA18906.hp1	a0001 a0004 a0012 a0001 a0004 a0012	a0001c0002 a0004c0007 a0004c0011 others(1): Show a0001c0002 a0004c0007 a0004c0011 a0012c0026	a0001c0002t0005 a0004c0007t0004 a0004c0011t0014 others(1): Show a0001c0002t0005 a0004c0007t0004 a0004c0011t0014 a0012c0026t0001	a0001c0002t0005g0054 a0004c0007t0004g0066 a0004c0011t0014g0067 others(1): Show a0001c0002t0005g0054 a0004c0007t0004g0066 a0004c0011t0014g0067 a0012c0026t0001g0104	4	108	0.0370	-20	c.642 others(39): Show c.642+36501_642+36520delCACACACACACACACACACA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	66837882	ATATATAT others(13): Show ATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG03130.hp2 NA19240.hp2 HG00323.hp1 HG03130.hp2 NA19240.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0004 a0003c0013 a0005c0006 a0002c0004 a0003c0013 a0005c0006	a0002c0004t0002 a0003c0013t0017 a0005c0006t0005 a0002c0004t0002 a0003c0013t0017 a0005c0006t0005	a0002c0004t0002g0021 a0003c0013t0017g0007 a0005c0006t0005g0037 a0002c0004t0002g0021 a0003c0013t0017g0007 a0005c0006t0005g0037	3	108	0.0278	-20	c.642 others(39): Show c.642+49090_642+49109delATATATATATATTTTTTTTT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	66837884	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01255.hp1 HG02027.hp1 others(9): Show HG01168.hp1 HG01255.hp1 HG02027.hp1 HG02486.hp1 HG02738.hp1 HG02976.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp1 NA18950.hp1 NA18950.hp2 NA19090.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0008 a0011	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0009 a0001c0022 a0002c0018 a0003c0005 a0005c0006 a0008c0010 a0011c0028	a0001c0001t0006 a0001c0002t0005 a0001c0003t0001 others(8): Show a0001c0001t0006 a0001c0002t0005 a0001c0003t0001 a0001c0008t0007 a0001c0009t0002 a0001c0022t0008 a0002c0018t0002 a0003c0005t0010 a0005c0006t0004 a0008c0010t0022 a0011c0028t0003	a0001c0001t0006g0078 a0001c0002t0005g0038 a0001c0002t0005g0055 others(9): Show a0001c0001t0006g0078 a0001c0002t0005g0038 a0001c0002t0005g0055 a0001c0003t0001g0102 a0001c0008t0007g0001 a0001c0009t0002g0013 a0001c0022t0008g0092 a0002c0018t0002g0019 a0003c0005t0010g0030 a0005c0006t0004g0048 a0008c0010t0022g0064 a0011c0028t0003g0033	12	108	0.1111	-20	c.642 others(39): Show c.642+49092_642+49111delATATATATATTTTTTTTTTT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	66837886	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0042 a0001c0001t0009g0042	1	108	0.0093	-20	c.642 others(39): Show c.642+49094_642+49113delATATATATTTTTTTTTTTTT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	66844139	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp1 HG03098.hp2 HG02258.hp2 HG02572.hp1 HG03098.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0005 a0004c0007 a0001c0001 a0003c0005 a0004c0007	a0001c0001t0026 a0003c0005t0025 a0004c0007t0009 a0001c0001t0026 a0003c0005t0025 a0004c0007t0009	a0001c0001t0026g0105 a0003c0005t0025g0106 a0004c0007t0009g0058 a0001c0001t0026g0105 a0003c0005t0025g0106 a0004c0007t0009g0058	3	108	0.0278	-20	c.642 others(39): Show c.642+55385_642+55404delGTGTGTGTGTGTGTGTGTGT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	66907158	CGAGAGAG others(13): Show CGAGAGAGAGAGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0013 a0001c0009t0002g0013	1	108	0.0093	-20	c.674 others(37): Show c.674+7206_674+7225delAGAGAGAGAGAGAGAGAGAG	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	66907587	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0039 a0001c0002t0003g0039	1	108	0.0093	-20	c.674 others(37): Show c.674+7636_674+7655delGTGTGTGTGTGTGTGTGTGT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	66919898	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02027.hp2 HG02109.hp1 others(11): Show HG00741.hp2 HG02027.hp2 HG02109.hp1 HG02155.hp2 HG02451.hp1 HG02615.hp2 HG02738.hp2 HG02886.hp2 HG02897.hp2 HG03017.hp1 HG03486.hp2 HG04204.hp2 NA18906.hp2 NA19240.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0008 a0016 a0019	a0001c0001 a0001c0003 a0001c0009 others(9): Show a0001c0001 a0001c0003 a0001c0009 a0001c0035 a0001c0036 a0002c0004 a0003c0013 a0004c0007 a0004c0017 a0008c0010 a0016c0016 a0019c0024	a0001c0001t0014 a0001c0003t0011 a0001c0009t0012 others(10): Show a0001c0001t0014 a0001c0003t0011 a0001c0009t0012 a0001c0035t0007 a0001c0036t0012 a0002c0004t0002 a0002c0004t0012 a0003c0013t0017 a0004c0007t0021 a0004c0017t0005 a0008c0010t0013 a0016c0016t0005 a0019c0024t0001	a0001c0001t0014g0035 a0001c0003t0011g0088 a0001c0009t0012g0005 others(11): Show a0001c0001t0014g0035 a0001c0003t0011g0088 a0001c0009t0012g0005 a0001c0035t0007g0009 a0001c0036t0012g0015 a0002c0004t0002g0022 a0002c0004t0002g0024 a0002c0004t0012g0002 a0003c0013t0017g0007 a0004c0007t0021g0057 a0004c0017t0005g0063 a0008c0010t0013g0061 a0016c0016t0005g0059 a0019c0024t0001g0089	14	108	0.1296	-20	c.674 others(39): Show c.674+19975_674+19994delCTTCCTTCCTTCCTTCCTTC	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67013067	TTACATTC others(13): Show TTACATTCTGCTTTGTGGTCC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0017 a0003c0013t0017	a0003c0013t0017g0010 a0003c0013t0017g0010	1	108	0.0093	-20	c.675 others(39): Show c.675-41330_675-41311delCTGCTTTGTGGTCCTACATT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67078932	ATATATAT others(13): Show ATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0010 a0010	a0010c0029 a0010c0029	a0010c0029t0001 a0010c0029t0001	a0010c0029t0001g0073 a0010c0029t0001g0073	1	108	0.0093	-20	c.764 others(39): Show c.764-11229_764-11210delTATATATATATATATATATG	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28			chr5	TogoVar
MASTL_chr10_27150352_27192953	27156182	TTTTAGTA others(13): Show TTTTAGTAGAGACGGGGTTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00423.hp1 others(47): Show HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00673.hp1 HG01099.hp1 HG01106.hp2 HG01192.hp2 HG02015.hp2 HG02055.hp1 HG02109.hp1 HG02135.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02523.hp2 HG02615.hp1 HG02630.hp1 HG02723.hp2 HG02886.hp1 HG02895.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03471.hp2 HG03579.hp1 HG03579.hp2 NA18939.hp2 NA18942.hp1 NA18946.hp2 NA18951.hp1 NA18955.hp2 NA18956.hp2 NA18964.hp2 NA18970.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA19000.hp1 NA19007.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19058.hp1 NA19085.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0001c0017 others(1): Show a0001c0001 a0001c0007 a0001c0017 a0003c0004	a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 others(3): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0007t0006 a0001c0017t0006 a0003c0004t0006	a0001c0001t0006g0150 a0001c0001t0007g0024 a0001c0001t0007g0025 others(38): Show a0001c0001t0006g0150 a0001c0001t0007g0024 a0001c0001t0007g0025 a0001c0001t0007g0165 a0001c0001t0007g0169 a0001c0001t0007g0170 a0001c0001t0007g0171 a0001c0001t0007g0172 a0001c0001t0007g0173 a0001c0001t0007g0174 a0001c0001t0007g0175 a0001c0001t0007g0176 a0001c0001t0007g0177 a0001c0001t0007g0178 a0001c0001t0007g0179 a0001c0001t0007g0180 a0001c0001t0007g0181 a0001c0001t0007g0182 a0001c0001t0011g0166 a0001c0001t0011g0167 a0001c0001t0011g0168 a0001c0007t0006g0183 a0001c0007t0006g0184 a0001c0017t0006g0151 a0003c0004t0006g0006 a0003c0004t0006g0022 a0003c0004t0006g0023 a0003c0004t0006g0152 a0003c0004t0006g0153 a0003c0004t0006g0154 a0003c0004t0006g0155 a0003c0004t0006g0156 a0003c0004t0006g0157 a0003c0004t0006g0158 a0003c0004t0006g0159 a0003c0004t0006g0160 a0003c0004t0006g0161 a0003c0004t0006g0162 a0003c0004t0006g0163 a0003c0004t0006g0164 a0003c0004t0006g0185	50	398	0.1256	-20	c.186 others(35): Show c.186+591_186+610delTTTAGTAGAGACGGGGTTTC	MASTL	ENSG00000120539.15	transcript	ENST00000375940.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
MATCAP1_chr16_67170599_67188963	67176054	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG01952.hp1 HG03491.hp1 others(2): Show HG01109.hp1 HG01952.hp1 HG03491.hp1 HG06807.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0011 a0001c0002t0011 a0001c0005t0011 a0001c0001t0011 a0001c0002t0011 a0001c0005t0011	a0001c0001t0011g0081 a0001c0002t0011g0040 a0001c0005t0011g0030 others(1): Show a0001c0001t0011g0081 a0001c0002t0011g0040 a0001c0005t0011g0030 a0001c0005t0011g0050	5	308	0.0162	-20	c.73 others(29): Show c.737_*756delACACACACACACACACACAC	MATCAP1	ENSG00000196123.13	transcript	ENST00000563902.2	protein_coding	7/7	737		chr16	TogoVar
MATK_chr19_3772973_3791381	3776618	ATGGATGG others(13): Show ATGGATGGATGGATGATTGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	434	0.0023	-20	c.15 others(31): Show c.1545_*1564delCCCAATCATCCATCCATCCA	MATK	ENSG00000007264.15	transcript	ENST00000310132.11	protein_coding		1354		chr19	TogoVar
MATK_chr19_3772973_3791381	3788097	TTTATATT others(13): Show TTTATATTATATTATATTATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18979.hp2 NA18966.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0006 a0001c0001t0001g0009	2	434	0.0046	-20	c.-21 others(31): Show c.-2100_-2081delTATAATATAATATAATATAA	MATK	ENSG00000007264.15	transcript	ENST00000310132.11	protein_coding		1717		chr19	TogoVar
MAU2_chr19_19315829_19363754	19327301	GTATTTAT others(13): Show GTATTTATTTATTTATTTATT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(152): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18953.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0002t0008 a0001c0002t0011 others(14): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0011 a0001c0002t0012 a0001c0002t0016 a0001c0002t0022 a0001c0002t0023 a0001c0002t0027 a0001c0002t0031 a0001c0002t0032 a0001c0002t0034 a0001c0002t0037 a0001c0002t0039 a0001c0002t0040 a0001c0002t0041 a0001c0003t0013 a0001c0004t0001	a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0026 others(139): Show a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0031 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0288 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0008g0029 a0001c0002t0008g0030 a0001c0002t0008g0176 a0001c0002t0008g0231 a0001c0002t0008g0256 a0001c0002t0008g0289 a0001c0002t0008g0290 a0001c0002t0008g0291 a0001c0002t0008g0294 a0001c0002t0011g0007 a0001c0002t0011g0025 a0001c0002t0011g0191 a0001c0002t0011g0206 a0001c0002t0012g0182 a0001c0002t0012g0192 a0001c0002t0012g0234 a0001c0002t0012g0240 a0001c0002t0012g0275 a0001c0002t0016g0001 a0001c0002t0016g0198 a0001c0002t0022g0193 a0001c0002t0022g0194 a0001c0002t0023g0004 a0001c0002t0023g0196 a0001c0002t0027g0298 a0001c0002t0027g0299 a0001c0002t0031g0261 a0001c0002t0032g0251 a0001c0002t0034g0185 a0001c0002t0037g0227 a0001c0002t0039g0007 a0001c0002t0040g0271 a0001c0002t0041g0287 a0001c0003t0013g0208 a0001c0004t0001g0243 a0001c0004t0001g0252	155	344	0.4506	-20	c.276 others(37): Show c.276+6188_276+6207delATTTATTTATTTATTTATTT	MAU2	ENSG00000129933.21	transcript	ENST00000262815.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAVS_chr20_3841834_3881118	3870634	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp2 HG01891.hp1 HG02258.hp1 others(9): Show HG01433.hp2 HG01891.hp1 HG02258.hp1 HG02280.hp2 HG02615.hp1 HG02615.hp2 HG02922.hp1 HG02970.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0003 a0006c0008 a0006c0025 others(3): Show a0001c0003 a0006c0008 a0006c0025 a0006c0026 a0007c0014 a0007c0031	a0001c0003t0078 a0006c0008t0018 a0006c0008t0027 others(4): Show a0001c0003t0078 a0006c0008t0018 a0006c0008t0027 a0006c0025t0046 a0006c0026t0018 a0007c0014t0027 a0007c0031t0046	a0001c0003t0078g0288 a0006c0008t0018g0217 a0006c0008t0018g0300 others(9): Show a0001c0003t0078g0288 a0006c0008t0018g0217 a0006c0008t0018g0300 a0006c0008t0018g0306 a0006c0008t0018g0307 a0006c0008t0027g0174 a0006c0008t0027g0312 a0006c0025t0046g0024 a0006c0026t0018g0305 a0007c0014t0027g0015 a0007c0014t0027g0016 a0007c0031t0046g0349	12	420	0.0286	-20	c.45 others(31): Show c.4510_*4529delAAAAAAAAAAAAAAAAAAAA	MAVS	ENSG00000088888.18	transcript	ENST00000428216.4	protein_coding	7/7	4510	INFO_REALIGN_3_PRIME	chr20	TogoVar
MAX_chr14_65070127_65107517	65089756	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01975.hp1 HG01928.hp2 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0057 a0001c0001t0007g0057	2	382	0.0052	-20	c.171 others(37): Show c.171+3932_171+3951delTTTTTTTTTTTTTTTTTTTT	MAX	ENSG00000125952.21	transcript	ENST00000358664.9	protein_coding	3/4			chr14	TogoVar
MB21D2_chr3_192791815_192922856	192828591	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03130.hp2 NA20300.hp2 HG02055.hp1 HG03130.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0133 a0001c0001t0001g0163 a0001c0001t0005g0258 a0001c0001t0001g0133 a0001c0001t0001g0163 a0001c0001t0005g0258	3	298	0.0101	-20	c.212 others(39): Show c.212-28961_212-28942delATATATATATATATATATAT	MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1			chr3	TogoVar
MBD2_chr18_54146606_54229669	54168613	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00738.hp2 HG01109.hp1 others(10): Show HG00673.hp2 HG00738.hp2 HG01109.hp1 HG01243.hp2 HG01884.hp1 HG02723.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp2 HG03486.hp2 HG03540.hp2 HG06807.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0024 others(2): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0024 a0001c0001t0042 a0001c0001t0047	a0001c0001t0005g0027 a0001c0001t0005g0258 a0001c0001t0007g0100 others(10): Show a0001c0001t0005g0027 a0001c0001t0005g0258 a0001c0001t0007g0100 a0001c0001t0007g0248 a0001c0001t0007g0249 a0001c0001t0007g0250 a0001c0001t0007g0251 a0001c0001t0007g0252 a0001c0001t0007g0256 a0001c0001t0007g0257 a0001c0001t0024g0054 a0001c0001t0042g0026 a0001c0001t0047g0259	13	300	0.0433	-20	c.841 others(37): Show c.841-2467_841-2448delCACACACACACACACACACA	MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding	3/6			chr18	TogoVar
MBD3L3_chr19_7051207_7063676	7057884	TTTGGAGG others(13): Show TTTGGAGGGAAAATTATTTAG	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0045	1	288	0.0035	-20	c.45+ others(33): Show c.45+657_45+676delCTAAATAATTTTCCCTCCAA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding	1/1			chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7042010	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02559.hp2 HG02922.hp2 others(1): Show HG02015.hp2 HG02559.hp2 HG02922.hp2 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0002 a0002c0002t0001 a0001c0006t0002 a0002c0002t0001	a0001c0006t0002g0011 a0002c0002t0001g0002 a0001c0006t0002g0011 a0002c0002t0001g0002	4	262	0.0153	-20	c.-18 others(31): Show c.-1886_-1867delGGAAGGAAGGAAGGAAGGAA	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		1832		chr19	TogoVar
MBD5_chr2_148016091_148521971	148071276	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0152 a0001c0001t0006g0152	1	188	0.0053	-20	c.-92 others(41): Show c.-925+49620_-925+49639delGTGTGTGTGTGTGTGTGTGT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148213753	TTTGATAT others(13): Show TTTGATATGGTGATGGTCATC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG02647.hp2 others(3): Show HG01243.hp2 HG02145.hp2 HG02647.hp2 HG02818.hp2 HG03139.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0093 a0001c0001t0002g0099 a0001c0001t0002g0108 others(3): Show a0001c0001t0002g0093 a0001c0001t0002g0099 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0185 a0001c0001t0007g0161	6	188	0.0319	-20	c.-83 others(41): Show c.-830-19487_-830-19468delTATGGTGATGGTCATCTTGA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148389251	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	188	0.0053	-20	c.-55 others(41): Show c.-557+46949_-557+46968delTATATATATATATATATATA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148447178	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03139.hp1 HG02647.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0010 a0001c0001t0007g0187 a0001c0001t0007g0010 a0001c0001t0007g0187	2	188	0.0106	-20	c.-55 others(41): Show c.-556-10987_-556-10968delAAAGAAAGAAAGAAAGAAAG	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBLAC1_chr7_100121967_100133495	100131234	TTTTTCTT others(13): Show TTTTTCTTTTCTTTTCTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(66): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp2 HG00673.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01192.hp2 HG01243.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02027.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02300.hp2 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02735.hp1 HG02896.hp2 HG02897.hp2 HG03098.hp1 HG03471.hp2 HG03710.hp1 HG03831.hp2 HG04115.hp1 HG04204.hp1 NA18612.hp1 NA18948.hp2 NA18954.hp1 NA18959.hp1 NA18965.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18978.hp1 NA18979.hp2 NA18983.hp2 NA18986.hp1 NA18993.hp2 NA19000.hp1 NA19012.hp1 NA19056.hp2 NA19066.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp2 NA19083.hp2 NA19086.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0001c0001t0001 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0001 a0002c0002t0001g0002 a0004c0004t0001g0001 a0001c0001t0001g0001 a0002c0002t0001g0002 a0004c0004t0001g0001	69	390	0.1769	-20	c.30 others(31): Show c.3039_*3058delTTTTCTTTTCTTTTCTTTTC	MBLAC1	ENSG00000214309.5	transcript	ENST00000398075.4	protein_coding		2740		chr7	TogoVar
MBLAC1_chr7_100121967_100133495	100131776	CTTTCTTT others(13): Show CTTTCTTTCTTTGTTTCTTTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01261.hp2 HG01255.hp1 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	390	0.0051	-20	c.35 others(31): Show c.3581_*3600delTTTCTTTCTTTGTTTCTTTG	MBLAC1	ENSG00000214309.5	transcript	ENST00000398075.4	protein_coding		3282		chr7	TogoVar
MBLAC1_chr7_100121967_100133495	100131788	GTTTCTTT others(13): Show GTTTCTTTGTTTCTTTCTTTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00673.hp2 HG01255.hp2 others(22): Show HG00423.hp2 HG00673.hp2 HG01255.hp2 HG01257.hp1 HG02074.hp2 HG02083.hp2 HG02280.hp2 HG02486.hp2 HG02615.hp2 HG02630.hp2 HG02818.hp2 HG02976.hp1 HG03540.hp1 HG06807.hp1 NA18906.hp2 NA18955.hp1 NA18973.hp2 NA18980.hp2 NA18983.hp1 NA18986.hp1 NA18999.hp1 NA19007.hp2 NA19055.hp2 NA19078.hp2 NA19085.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0003c0003t0001g0001 a0001c0001t0001g0001 a0001c0001t0001g0005 a0003c0003t0001g0001	25	390	0.0641	-20	c.35 others(31): Show c.3593_*3612delTTTCTTTGTTTCTTTCTTTC	MBLAC1	ENSG00000214309.5	transcript	ENST00000398075.4	protein_coding		3294		chr7	TogoVar
MBLAC1_chr7_100121967_100133495	100131796	GTTTCTTT others(13): Show GTTTCTTTCTTTCTTTCTTTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00639.hp1 others(31): Show HG00099.hp1 HG00323.hp1 HG00639.hp1 HG00741.hp1 HG01070.hp1 HG01099.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01517.hp1 HG01934.hp1 HG02145.hp1 HG02257.hp2 HG02451.hp1 HG02647.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03654.hp2 HG03669.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA20129.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	34	390	0.0872	-20	c.36 others(31): Show c.3601_*3620delTTTCTTTCTTTCTTTCTTTC	MBLAC1	ENSG00000214309.5	transcript	ENST00000398075.4	protein_coding		3302		chr7	TogoVar
MBNL1_chr3_152263929_152470780	152376782	ACGCACAC others(13): Show ACGCACACACACACGTGCATG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	338	0.0030	-20	c.175 others(39): Show c.175-38145_175-38126delGTGCATGCGCACACACACAC	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL2_chr13_97217333_97399120	97233126	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19000.hp1 NA18944.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0164 a0001c0001t0001g0033 a0001c0001t0001g0164	2	254	0.0079	-20	c.-60 others(41): Show c.-605+10626_-605+10645delATATATATATATATATATAT	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL3_chrX_132364320_132494038	132408092	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01891.hp1 HG02572.hp1 others(3): Show HG00673.hp1 HG01891.hp1 HG02572.hp1 NA18960.hp1 NA18984.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0041 others(1): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0041 a0001c0001t0043	a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0079 others(3): Show a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0079 a0001c0001t0016g0044 a0001c0001t0041g0023 a0001c0001t0043g0002	6	191	0.0314	-20	c.178 others(37): Show c.178-1720_178-1701delAAAAAAAAAAAAAAAAAAAA	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	2/8			chrX	TogoVar
MBOAT1_chr6_20094684_20217469	20168599	GAGAGAAG others(13): Show GAGAGAAGAGAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0304 a0001c0001t0068g0304	1	336	0.0030	-20	c.100 others(39): Show c.100-15850_100-15831delTCTCTTCTCTTCTCTTCTCT	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20175878	ACGGGCAT others(13): Show ACGGGCATGAGTCACTGCATC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01516.hp1 HG02738.hp2 others(1): Show HG01099.hp1 HG01516.hp1 HG02738.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0011 a0001c0001t0017 a0001c0001t0040 others(1): Show a0001c0001t0011 a0001c0001t0017 a0001c0001t0040 a0002c0006t0031	a0001c0001t0011g0152 a0001c0001t0017g0198 a0001c0001t0040g0189 others(1): Show a0001c0001t0011g0152 a0001c0001t0017g0198 a0001c0001t0040g0189 a0002c0006t0031g0329	4	336	0.0119	-20	c.100 others(39): Show c.100-23129_100-23110delGATGCAGTGACTCATGCCCG	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT7_chr19_54168415_54194580	54168793	CTTTCTTT others(13): Show CTTTCTTTTCTTTTCTTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01175.hp1 HG01358.hp2 others(2): Show HG01123.hp1 HG01175.hp1 HG01358.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0007 a0001c0002t0004 a0001c0001t0002 a0001c0001t0007 a0001c0002t0004	a0001c0001t0002g0153 a0001c0001t0007g0274 a0001c0001t0007g0275 others(2): Show a0001c0001t0002g0153 a0001c0001t0007g0274 a0001c0001t0007g0275 a0001c0002t0004g0294 a0001c0002t0004g0339	5	373	0.0134	-20	c.52 others(31): Show c.5231_*5250delAGAAAAGAAAAGAAAAGAAA	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding		4621		chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54172199	CCCGGCTC others(13): Show CCCGGCTCCTCCTCCCTCAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0186 a0001c0002t0004g0186	1	373	0.0027	-20	c.18 others(31): Show c.1825_*1844delTCTGAGGGAGGAGGAGCCGG	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding		1215		chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54181881	AGGAGGGA others(13): Show AGGAGGGAAGGAAGGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	373	0.0027	-20	c.494 others(35): Show c.494-768_494-749delCTCCCTCCTTCCTTCCCTCC	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	5/7			chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54188015	CAGAAAGA others(13): Show CAGAAAGAAAGAAAGAAAGAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp2 HG02486.hp2 others(4): Show HG01891.hp2 HG02257.hp2 HG02486.hp2 HG02572.hp1 HG02922.hp1 HG03471.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0364 a0001c0001t0005g0365 others(3): Show a0001c0001t0005g0004 a0001c0001t0005g0364 a0001c0001t0005g0365 a0001c0001t0005g0366 a0001c0001t0005g0367 a0001c0001t0005g0368	7	373	0.0188	-20	c.206 others(35): Show c.206+182_206+201delTTCTTTCTTTCTTTCTTTCT	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	3/7			chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54188756	TGGAGAAC others(13): Show TGGAGAACCCAGGAAAGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0005 a0002c0003t0008g0005	1	373	0.0027	-20	c.-3- others(33): Show c.-3-265_-3-246delCACACTTTCCTGGGTTCTCC	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	1/7			chr19	TogoVar
MBP_chr18_76973833_77137783	77009792	TCAGGAAA others(13): Show TCAGGAAACGGCAGGTCACCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp2 HG02723.hp1 others(11): Show HG02257.hp2 HG02572.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03471.hp1 HG03540.hp2 NA18522.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0004	a0001c0001t0002 a0001c0001t0017 a0001c0001t0036 others(5): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0036 a0001c0002t0012 a0001c0002t0020 a0001c0002t0029 a0001c0003t0010 a0003c0004t0013	a0001c0001t0002g0294 a0001c0001t0017g0008 a0001c0001t0017g0009 others(11): Show a0001c0001t0002g0294 a0001c0001t0017g0008 a0001c0001t0017g0009 a0001c0001t0017g0166 a0001c0001t0036g0200 a0001c0002t0012g0012 a0001c0002t0012g0160 a0001c0002t0020g0231 a0001c0002t0020g0244 a0001c0002t0029g0393 a0001c0003t0010g0210 a0001c0003t0010g0211 a0003c0004t0013g0073 a0003c0004t0013g0150	14	396	0.0354	-20	c.576 others(37): Show c.576+7020_576+7039delGGGTGACCTGCCGTTTCCTG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	4/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77019032	TCATCCAT others(13): Show TCATCCATCCATCCATCCATC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(71): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00597.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01433.hp2 HG01496.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG02071.hp2 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp1 HG02602.hp1 HG02738.hp1 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG04204.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18990.hp1 NA18997.hp1 NA19002.hp1 NA19006.hp2 NA19011.hp2 NA19057.hp1 NA19058.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19080.hp1 NA19086.hp1 NA19089.hp1 NA19091.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0028 a0001c0001t0053 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0027	a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0087 others(70): Show a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0087 a0001c0001t0001g0109 a0001c0001t0001g0177 a0001c0001t0002g0242 a0001c0001t0002g0248 a0001c0001t0002g0256 a0001c0001t0002g0260 a0001c0001t0002g0271 a0001c0001t0002g0274 a0001c0001t0002g0328 a0001c0001t0003g0026 a0001c0001t0003g0036 a0001c0001t0003g0051 a0001c0001t0003g0055 a0001c0001t0003g0058 a0001c0001t0003g0084 a0001c0001t0003g0094 a0001c0001t0003g0099 a0001c0001t0003g0121 a0001c0001t0003g0173 a0001c0001t0003g0186 a0001c0001t0004g0020 a0001c0001t0004g0078 a0001c0001t0004g0107 a0001c0001t0004g0119 a0001c0001t0004g0132 a0001c0001t0005g0001 a0001c0001t0005g0232 a0001c0001t0005g0308 a0001c0001t0006g0233 a0001c0001t0006g0243 a0001c0001t0006g0246 a0001c0001t0006g0250 a0001c0001t0006g0270 a0001c0001t0006g0322 a0001c0001t0006g0324 a0001c0001t0006g0325 a0001c0001t0006g0327 a0001c0001t0007g0374 a0001c0001t0008g0344 a0001c0001t0008g0346 a0001c0001t0008g0355 a0001c0001t0008g0356 a0001c0001t0008g0359 a0001c0001t0008g0367 a0001c0001t0008g0375 a0001c0001t0009g0072 a0001c0001t0009g0180 a0001c0001t0014g0317 a0001c0001t0016g0350 a0001c0001t0028g0389 a0001c0001t0053g0392 a0001c0002t0001g0089 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0106 a0001c0002t0001g0110 a0001c0002t0001g0154 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0185 a0001c0002t0001g0195 a0001c0002t0002g0238 a0001c0002t0002g0258 a0001c0002t0002g0279 a0001c0002t0002g0290 a0001c0002t0002g0315 a0001c0002t0007g0345 a0001c0002t0007g0351 a0001c0002t0007g0383 a0001c0002t0027g0390	74	396	0.1869	-20	c.140 others(37): Show c.140-1784_140-1765delGATGGATGGATGGATGGATG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77131075	GCACGCAC others(13): Show GCACGCACGCGCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02056.hp2 HG00099.hp1 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0070 a0001c0001t0010g0069 a0001c0001t0003g0070 a0001c0001t0010g0069	2	396	0.0051	-20	c.-26 others(37): Show c.-26+1485_-26+1504delTGTGTGTGTGCGCGTGCGTG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MBTD1_chr17_51172425_51265049	51197041	GATATATA others(13): Show GATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG02055.hp1 others(4): Show HG01257.hp1 HG01258.hp1 HG02055.hp1 HG02735.hp2 HG04184.hp1 NA18962.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0023 a0001c0001t0025 others(3): Show a0001c0001t0004 a0001c0001t0023 a0001c0001t0025 a0001c0001t0039 a0001c0001t0063 a0001c0001t0152	a0001c0001t0004g0122 a0001c0001t0023g0180 a0001c0001t0025g0148 others(4): Show a0001c0001t0004g0122 a0001c0001t0023g0180 a0001c0001t0025g0148 a0001c0001t0039g0103 a0001c0001t0039g0104 a0001c0001t0063g0178 a0001c0001t0152g0179	7	340	0.0206	-20	c.122 others(39): Show c.1225-1700_1225-1681delATATATATATATATATATAT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	12/16			chr17	TogoVar
MBTPS2_chrX_21834617_21890423	21844109	CAAATAAA others(13): Show CAAATAAATAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0281 a0001c0002t0002g0281	1	308	0.0033	-20	c.224 others(35): Show c.224+817_224+836delAATAAATAAATAAATAAATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
MC1R_chr16_89913862_89925972	89914267	CTGTGTGT others(13): Show CTGTGTGTGTGGGTGCACATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG03471.hp1 NA20129.hp2 HG00099.hp2 HG03471.hp1 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0011 a0007c0016 a0001c0011 a0007c0016	a0001c0011t0009 a0007c0016t0003 a0001c0011t0009 a0007c0016t0003	a0001c0011t0009g0000 a0007c0016t0003g0000 a0001c0011t0009g0000 a0007c0016t0003g0000	3	396	0.0076	-20	c.-49 others(31): Show c.-4991_-4972delTGTGTGTGTGGGTGCACATT	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		4594		chr16	TogoVar
MC2R_chr18_13877044_13920536	13881101	GCCCCAGC others(13): Show GCCCCAGCAGTTCCTAGAGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(101): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00609.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02040.hp1 HG02080.hp2 HG02109.hp2 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02723.hp1 HG02735.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp2 HG03490.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18952.hp2 NA18953.hp1 NA18956.hp2 NA18957.hp2 NA18963.hp2 NA18965.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp2 NA18982.hp2 NA18985.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19058.hp2 NA19063.hp1 NA19066.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19090.hp2 NA20129.hp2 NA20752.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(28): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0061 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0081 a0005c0004t0060	a0001c0001t0001g0015 a0001c0001t0003g0044 a0001c0001t0003g0048 others(85): Show a0001c0001t0001g0015 a0001c0001t0003g0044 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0055 a0001c0001t0003g0248 a0001c0001t0003g0274 a0001c0001t0003g0278 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0288 a0001c0001t0003g0290 a0001c0001t0003g0298 a0001c0001t0003g0301 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0252 a0001c0001t0004g0254 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0275 a0001c0001t0006g0010 a0001c0001t0006g0020 a0001c0001t0006g0269 a0001c0001t0006g0271 a0001c0001t0006g0276 a0001c0001t0006g0280 a0001c0001t0006g0304 a0001c0001t0011g0310 a0001c0001t0011g0311 a0001c0001t0011g0313 a0001c0001t0011g0314 a0001c0001t0011g0315 a0001c0001t0011g0316 a0001c0001t0011g0317 a0001c0001t0011g0318 a0001c0001t0012g0052 a0001c0001t0012g0273 a0001c0001t0012g0281 a0001c0001t0012g0286 a0001c0001t0012g0299 a0001c0001t0012g0303 a0001c0001t0014g0091 a0001c0001t0025g0054 a0001c0001t0025g0279 a0001c0001t0026g0249 a0001c0001t0026g0268 a0001c0001t0026g0270 a0001c0001t0027g0282 a0001c0001t0027g0291 a0001c0001t0027g0294 a0001c0001t0030g0085 a0001c0001t0030g0086 a0001c0001t0030g0088 a0001c0001t0035g0049 a0001c0001t0036g0287 a0001c0001t0036g0305 a0001c0001t0038g0260 a0001c0001t0038g0261 a0001c0001t0039g0255 a0001c0001t0039g0259 a0001c0001t0040g0295 a0001c0001t0040g0297 a0001c0001t0041g0283 a0001c0001t0041g0292 a0001c0001t0042g0053 a0001c0001t0044g0087 a0001c0001t0061g0272 a0001c0001t0063g0302 a0001c0001t0064g0253 a0001c0001t0065g0289 a0001c0001t0069g0293 a0001c0001t0071g0312 a0001c0001t0072g0296 a0001c0001t0073g0300 a0001c0001t0074g0277 a0001c0001t0075g0193 a0001c0001t0081g0089 a0005c0004t0060g0309	104	416	0.2500	-20	c.35 others(31): Show c.3504_*3523delGCCTCTAGGAACTGCTGGGG	MC2R	ENSG00000185231.5	transcript	ENST00000327606.4	protein_coding		942		chr18	TogoVar
MC2R_chr18_13877044_13920536	13883611	ACACACAC others(13): Show ACACACACACACACACACTCT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0312 a0001c0001t0071g0312	1	416	0.0024	-20	c.99 others(30): Show c.994_*1013delAGAGTGTGTGTGTGTGTGTG	MC2R	ENSG00000185231.5	transcript	ENST00000327606.4	protein_coding	2/2	994		chr18	TogoVar
MC2R_chr18_13877044_13920536	13883613	ACACACAC others(13): Show ACACACACACACACACTCTCT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG02897.hp1 others(5): Show HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03704.hp1 HG03831.hp2 HG04184.hp1 HG04199.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0310 a0001c0001t0011g0311 a0001c0001t0011g0313 others(5): Show a0001c0001t0011g0310 a0001c0001t0011g0311 a0001c0001t0011g0313 a0001c0001t0011g0314 a0001c0001t0011g0315 a0001c0001t0011g0316 a0001c0001t0011g0317 a0001c0001t0011g0318	8	416	0.0192	-20	c.99 others(30): Show c.992_*1011delAGAGAGTGTGTGTGTGTGTG	MC2R	ENSG00000185231.5	transcript	ENST00000327606.4	protein_coding	2/2	992		chr18	TogoVar
MCCC1_chr3_183010218_183104496	183102758	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01255.hp2 HG02040.hp2 others(11): Show HG00544.hp2 HG01255.hp2 HG02040.hp2 HG02055.hp1 HG03669.hp1 HG04199.hp1 HG04228.hp2 NA18747.hp1 NA18966.hp1 NA18971.hp2 NA18993.hp1 NA19065.hp2 NA19085.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0202 a0001c0001t0001g0213 a0001c0001t0001g0216 others(11): Show a0001c0001t0001g0202 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0264	14	344	0.0407	-20	c.-33 others(31): Show c.-3338_-3319delAAAAAAAAAAAAAAAAAAAA	MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding		3263		chr3	TogoVar
MCCC2_chr5_71582340_71663706	71618488	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01884.hp2 HG02056.hp1 others(5): Show HG01261.hp1 HG01884.hp2 HG02056.hp1 HG02258.hp1 HG02717.hp2 HG02922.hp2 HG03195.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0018 a0001c0001t0021	a0001c0001t0002g0222 a0001c0001t0002g0227 a0001c0001t0002g0300 others(5): Show a0001c0001t0002g0222 a0001c0001t0002g0227 a0001c0001t0002g0300 a0001c0001t0002g0321 a0001c0001t0004g0068 a0001c0001t0007g0253 a0001c0001t0018g0086 a0001c0001t0021g0228	8	350	0.0229	-20	c.625 others(37): Show c.625-8108_625-8089delCCTTCCTTCCTTCCTTCCTT	MCCC2	ENSG00000131844.17	transcript	ENST00000340941.11	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr5	TogoVar

Search by Variant

Search

Search Results