Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
MBNL1_chr3_152263929_152470780	152342553	A A	AACACACA others(11): Show AACACACACACACAAACAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	338	0.0030	18	c.174 others(37): Show c.174+42199_174+42200insAACACACACACACACACA	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL1_chr3_152263929_152470780	152342553	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03041.hp1 HG02056.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0223 a0001c0001t0003g0181 a0001c0001t0001g0223 a0001c0001t0003g0181	2	338	0.0059	18	c.174 others(37): Show c.174+42203_174+42220dupACACACACACACACACAC	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL1_chr3_152263929_152470780	152356856	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02738.hp2 HG03927.hp1 others(1): Show HG00673.hp2 HG02738.hp2 HG03927.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0023 a0001c0001t0001g0180 a0001c0001t0001g0277 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0180 a0001c0001t0001g0277 a0001c0001t0009g0279	4	338	0.0118	18	c.174 others(37): Show c.174+56496_174+56513dupGTGTGTGTGTGTGTGTGT	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL1_chr3_152263929_152470780	152407047	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0200 a0001c0001t0004g0200	1	338	0.0030	18	c.175 others(35): Show c.175-7886_175-7869dupGTGTGTGTGTGTGTGTGT	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL1_chr3_152263929_152470780	152443485	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00423.hp1 others(99): Show HG00099.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00639.hp2 HG00642.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01175.hp2 HG01255.hp1 HG01346.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01891.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02135.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02602.hp2 HG02683.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03130.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18956.hp2 NA18959.hp1 NA18962.hp2 NA18966.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19055.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19075.hp2 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19085.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027	a0001c0001t0001g0005 a0001c0001t0001g0078 a0001c0001t0001g0085 others(99): Show a0001c0001t0001g0005 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0118 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0235 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0292 a0001c0001t0001g0298 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0310 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0002g0009 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0041 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0097 a0001c0001t0002g0108 a0001c0001t0002g0131 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0188 a0001c0001t0002g0196 a0001c0001t0002g0202 a0001c0001t0002g0212 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0247 a0001c0001t0002g0250 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0289 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0299 a0001c0001t0002g0307 a0001c0001t0002g0320 a0001c0001t0002g0329 a0001c0001t0003g0209 a0001c0001t0003g0309 a0001c0001t0006g0193 a0001c0001t0008g0107 a0001c0001t0011g0313 a0001c0001t0012g0095 a0001c0001t0014g0028 a0001c0001t0015g0031 a0001c0001t0016g0136 a0001c0001t0018g0211 a0001c0001t0020g0103 a0001c0001t0023g0305 a0001c0001t0024g0327 a0001c0001t0027g0034	102	338	0.3018	18	c.550 others(35): Show c.550-1791_550-1774dupCACACACACACACACACA	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL1_chr3_152263929_152470780	152459916	T T	TACCTACT others(11): Show TACCTACTTCATCCCATGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp1 HG00733.hp2 others(64): Show HG00408.hp2 HG00642.hp1 HG00733.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01516.hp2 HG01517.hp1 HG02015.hp2 HG02056.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02572.hp2 HG02683.hp2 HG02809.hp2 HG02965.hp1 HG03139.hp1 HG03225.hp2 HG03453.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18944.hp2 NA18947.hp2 NA18956.hp2 NA18960.hp2 NA18966.hp1 NA18972.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19001.hp1 NA19006.hp2 NA19011.hp1 NA19055.hp2 NA19062.hp1 NA19066.hp1 NA19075.hp2 NA19078.hp1 NA19085.hp2 NA19088.hp2 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 others(4): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015	a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 others(64): Show a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0081 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0097 a0001c0001t0002g0101 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0002g0131 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0196 a0001c0001t0002g0202 a0001c0001t0002g0208 a0001c0001t0002g0212 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0255 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0280 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0299 a0001c0001t0002g0307 a0001c0001t0002g0316 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0323 a0001c0001t0002g0329 a0001c0001t0008g0107 a0001c0001t0010g0286 a0001c0001t0012g0095 a0001c0001t0013g0300 a0001c0001t0014g0028 a0001c0001t0015g0031	67	338	0.1982	18	c.18 others(33): Show c.18+573_*18+574insCTACTTCATCCCATGCAC	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL2_chr13_97217333_97399120	97291900	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02896.hp2 HG03098.hp1 others(3): Show HG02280.hp2 HG02896.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0001 a0001c0001t0004 a0001c0001t0014	a0001c0001t0001g0027 a0001c0001t0001g0143 a0001c0001t0001g0191 others(3): Show a0001c0001t0001g0027 a0001c0001t0001g0143 a0001c0001t0001g0191 a0001c0001t0001g0203 a0001c0001t0004g0185 a0001c0001t0014g0234	6	254	0.0236	18	c.174 others(37): Show c.174+15508_174+15509insAAAAAAAAAAAAAAAAAA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL2_chr13_97217333_97399120	97334148	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0250 a0001c0001t0013g0250	1	254	0.0039	18	c.175 others(33): Show c.175-117_175-100dupCACACACACACACACACA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL2_chr13_97217333_97399120	97388314	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02970.hp2 HG02717.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0126 a0001c0002t0006g0248 a0001c0002t0006g0126 a0001c0002t0006g0248	2	254	0.0079	18	c.104 others(37): Show c.1049-3003_1049-2986dupATATATATATATATATAT	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL3_chrX_132364320_132494038	132394809	A A	AGCTAAGT others(11): Show AGCTAAGTTCTGCTTTCTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0107 a0001c0001t0038g0107	1	191	0.0052	18	c.343 others(35): Show c.343-2493_343-2476dupAAGAAAGCAGAACTTAGC	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396755	T T	TATATATA others(11): Show TATATATATTCATATATAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	191	0.0052	18	c.343 others(35): Show c.343-4439_343-4422dupGTATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBOAT1_chr6_20094684_20217469	20184880	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0158 a0001c0001t0017g0158	1	336	0.0030	18	c.99+ others(35): Show c.99+27238_99+27255dupACACACACACACACACAC	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20192995	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18906.hp1 NA19240.hp1 HG03139.hp2 NA18906.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0010 a0001c0001t0036 a0003c0003t0011 a0001c0001t0010 a0001c0001t0036 a0003c0003t0011	a0001c0001t0010g0258 a0001c0001t0036g0017 a0003c0003t0011g0018 a0001c0001t0010g0258 a0001c0001t0036g0017 a0003c0003t0011g0018	3	336	0.0089	18	c.99+ others(35): Show c.99+19123_99+19140dupAAAAAAAAAAAAAAAAAA	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20208445	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00597.hp1 others(103): Show HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG01074.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp2 HG01981.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18957.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18993.hp2 NA18994.hp1 NA19000.hp2 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19077.hp1 NA19081.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0001c0007 a0001c0008 others(6): Show a0001c0001 a0001c0007 a0001c0008 a0002c0002 a0002c0006 a0002c0011 a0003c0003 a0004c0004 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0035 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0058 a0001c0001t0059 a0001c0007t0004 a0001c0008t0011 a0002c0002t0020 a0002c0002t0032 a0002c0002t0071 a0002c0002t0073 a0002c0002t0077 a0002c0006t0030 a0002c0011t0020 a0003c0003t0006 a0004c0004t0030 a0007c0009t0001	a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0040 others(103): Show a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0178 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0199 a0001c0001t0001g0218 a0001c0001t0001g0278 a0001c0001t0002g0030 a0001c0001t0002g0041 a0001c0001t0002g0077 a0001c0001t0002g0082 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0097 a0001c0001t0002g0101 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0126 a0001c0001t0002g0131 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0197 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0003g0027 a0001c0001t0003g0042 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0081 a0001c0001t0003g0087 a0001c0001t0003g0102 a0001c0001t0003g0177 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0043 a0001c0001t0004g0075 a0001c0001t0004g0099 a0001c0001t0004g0106 a0001c0001t0004g0112 a0001c0001t0004g0179 a0001c0001t0004g0219 a0001c0001t0005g0052 a0001c0001t0005g0067 a0001c0001t0005g0079 a0001c0001t0005g0085 a0001c0001t0005g0182 a0001c0001t0005g0195 a0001c0001t0005g0217 a0001c0001t0006g0012 a0001c0001t0006g0028 a0001c0001t0006g0107 a0001c0001t0006g0180 a0001c0001t0007g0035 a0001c0001t0007g0140 a0001c0001t0008g0009 a0001c0001t0008g0103 a0001c0001t0008g0104 a0001c0001t0008g0111 a0001c0001t0008g0129 a0001c0001t0011g0188 a0001c0001t0012g0049 a0001c0001t0017g0198 a0001c0001t0018g0292 a0001c0001t0018g0293 a0001c0001t0022g0066 a0001c0001t0023g0086 a0001c0001t0023g0095 a0001c0001t0028g0289 a0001c0001t0028g0291 a0001c0001t0035g0013 a0001c0001t0042g0039 a0001c0001t0043g0196 a0001c0001t0044g0026 a0001c0001t0046g0038 a0001c0001t0047g0181 a0001c0001t0058g0294 a0001c0001t0059g0290 a0001c0007t0004g0004 a0001c0008t0011g0130 a0002c0002t0020g0322 a0002c0002t0020g0327 a0002c0002t0032g0323 a0002c0002t0071g0324 a0002c0002t0073g0325 a0002c0002t0077g0331 a0002c0006t0030g0330 a0002c0011t0020g0328 a0003c0003t0006g0139 a0004c0004t0030g0326 a0007c0009t0001g0183	106	336	0.3155	18	c.99+ others(33): Show c.99+3690_99+3691insTTTTTTTTTTTTTTTTTT	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT2_chr2_8847690_9008684	8944648	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0031	a0002c0002t0031g0036 a0002c0002t0031g0036	1	162	0.0062	18	c.222 others(35): Show c.222-1402_222-1385dupGTGTGTGTGTGTGTGTGT	MBOAT2	ENSG00000143797.12	transcript	ENST00000305997.8	protein_coding	2/12			chr2	TogoVar
MBOAT7_chr19_54168415_54194580	54177151	A A	AAATACTA others(11): Show AAATACTAATACTAATACT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00558.hp1 others(102): Show HG00099.hp1 HG00140.hp1 HG00558.hp1 HG00609.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02273.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02615.hp2 HG02630.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02965.hp2 HG03017.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03669.hp1 HG03669.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18747.hp2 NA18940.hp2 NA18945.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp2 NA18967.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18982.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19065.hp1 NA19070.hp1 NA19074.hp1 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0010 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0002t0001 a0001c0002t0004 a0001c0007t0001 a0001c0010t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0004t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(100): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0132 a0001c0001t0001g0176 a0001c0001t0001g0230 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0349 a0001c0001t0002g0081 a0001c0001t0002g0089 a0001c0001t0002g0094 a0001c0001t0002g0109 a0001c0001t0002g0234 a0001c0001t0002g0302 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0328 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0098 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0125 a0001c0001t0003g0258 a0001c0001t0007g0275 a0001c0001t0012g0071 a0001c0002t0001g0069 a0001c0002t0004g0022 a0001c0002t0004g0031 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0042 a0001c0002t0004g0114 a0001c0002t0004g0296 a0001c0002t0004g0301 a0001c0007t0001g0088 a0001c0010t0001g0096 a0002c0003t0001g0012 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0054 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0287 a0002c0003t0002g0121 a0002c0003t0003g0084 a0002c0003t0003g0120 a0002c0004t0004g0026	105	373	0.2815	18	c.103 others(37): Show c.1031+1596_1031+1613dupAGTATTAGTATTAGTATT	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	7/7			chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54181637	G G	GAGGAGAT others(11): Show GAGGAGATGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0186 a0001c0002t0004g0186	1	373	0.0027	18	c.494 others(33): Show c.494-505_494-504insTCTCCCTCTCCATCTCCT	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	5/7			chr19	TogoVar
MBP_chr18_76973833_77137783	76975154	C C	CCTTTTCT others(11): Show CCTTTTCTTTTCTTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 NA19063.hp2 HG03654.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0002 a0001c0001t0008 a0001c0002t0002	a0001c0001t0008g0367 a0001c0002t0002g0290 a0001c0001t0008g0367 a0001c0002t0002g0290	2	396	0.0051	18	c.52 others(29): Show c.5272_*5273insAAGAAAAGAAAAGAAAAG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3678		chr18	TogoVar
MBP_chr18_76973833_77137783	76986366	C C	CTAGCCCA others(11): Show CTAGCCCATCTCTTATTTA	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0246 a0001c0001t0006g0246	1	396	0.0025	18	c.751 others(35): Show c.751-1490_751-1473dupTAAATAAGAGATGGGCTA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	7/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77025705	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0005 a0006c0011t0005	a0006c0011t0005g0269 a0006c0011t0005g0269	1	396	0.0025	18	c.140 others(35): Show c.140-8455_140-8438dupAAAAAAAAAAAAAAAAAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77098168	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02056.hp2 HG02080.hp1 others(3): Show HG00438.hp1 HG02056.hp2 HG02080.hp1 NA18947.hp2 NA18950.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0050	a0001c0001t0001g0167 a0001c0001t0002g0274 a0001c0001t0003g0070 others(3): Show a0001c0001t0001g0167 a0001c0001t0002g0274 a0001c0001t0003g0070 a0001c0001t0005g0298 a0001c0002t0001g0192 a0001c0002t0050g0354	6	396	0.0152	18	c.51+ others(33): Show c.51+7025_51+7042dupAAAAAAAAAAAAAAAAAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	2/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77112169	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp2 others(50): Show HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00639.hp1 HG00673.hp2 HG01099.hp1 HG01106.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02056.hp1 HG02132.hp2 HG02273.hp1 HG02293.hp1 HG02486.hp1 HG02572.hp2 HG03195.hp2 NA18939.hp2 NA18940.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18960.hp2 NA18961.hp1 NA18967.hp2 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18984.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA18999.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19080.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0002 a0004c0007 others(1): Show a0001c0001 a0001c0002 a0004c0007 a0007c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0029 a0001c0001t0033 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0019 a0001c0002t0029 a0001c0002t0030 a0001c0002t0049 a0004c0007t0001 a0007c0010t0019	a0001c0001t0001g0052 a0001c0001t0001g0102 a0001c0001t0001g0109 others(50): Show a0001c0001t0001g0052 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0179 a0001c0001t0001g0196 a0001c0001t0003g0092 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0151 a0001c0001t0003g0169 a0001c0001t0003g0173 a0001c0001t0003g0186 a0001c0001t0004g0020 a0001c0001t0004g0091 a0001c0001t0005g0277 a0001c0001t0005g0280 a0001c0001t0006g0285 a0001c0001t0006g0323 a0001c0001t0006g0325 a0001c0001t0007g0374 a0001c0001t0008g0371 a0001c0001t0014g0284 a0001c0001t0016g0372 a0001c0001t0029g0394 a0001c0001t0033g0090 a0001c0002t0001g0089 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0185 a0001c0002t0001g0195 a0001c0002t0002g0283 a0001c0002t0002g0287 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0297 a0001c0002t0007g0351 a0001c0002t0007g0360 a0001c0002t0007g0381 a0001c0002t0007g0383 a0001c0002t0019g0286 a0001c0002t0029g0393 a0001c0002t0030g0093 a0001c0002t0049g0380 a0004c0007t0001g0153 a0007c0010t0019g0282	53	396	0.1338	18	c.-25 others(35): Show c.-25-6901_-25-6884dupTGTGTGTGTGTGTGTGTG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77112169	G G	GCGCACAC others(11): Show GCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA19007.hp2 HG03017.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0174 a0001c0001t0001g0103 a0001c0001t0001g0174	2	396	0.0051	18	c.-25 others(35): Show c.-25-6884_-25-6883insTGTGTGTGTGTGTGTGCG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG02257.hp2 HG01071.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0128 a0001c0001t0064 a0001c0001t0128	a0001c0001t0064g0337 a0001c0001t0128g0053 a0001c0001t0064g0337 a0001c0001t0128g0053	2	340	0.0059	18	c.41 others(29): Show c.4153_*4154insATTTTTTTTTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 NA18993.hp1 HG00639.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0051 a0001c0001t0035 a0001c0001t0051	a0001c0001t0035g0288 a0001c0001t0051g0297 a0001c0001t0035g0288 a0001c0001t0051g0297	2	340	0.0059	18	c.41 others(29): Show c.4153_*4154insATATATTTTTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02273.hp1 NA18950.hp2 others(1): Show HG01496.hp1 HG02273.hp1 NA18950.hp2 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0037 a0001c0001t0009 a0001c0001t0012 a0001c0001t0037	a0001c0001t0009g0271 a0001c0001t0012g0043 a0001c0001t0012g0044 others(1): Show a0001c0001t0009g0271 a0001c0001t0012g0043 a0001c0001t0012g0044 a0001c0001t0037g0290	4	340	0.0118	18	c.41 others(29): Show c.4153_*4154insATATATATATTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0127 a0001c0001t0127	a0001c0001t0127g0215 a0001c0001t0127g0215	1	340	0.0029	18	c.41 others(29): Show c.4153_*4154insATATATATATATTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179481	A A	ATTATATA others(11): Show ATTATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp2 HG02809.hp2 NA18971.hp2 others(3): Show HG01106.hp2 HG02809.hp2 NA18971.hp2 NA19054.hp2 NA19057.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0108 a0001c0001t0109 a0001c0001t0014 a0001c0001t0108 a0001c0001t0109	a0001c0001t0014g0202 a0001c0001t0014g0209 a0001c0001t0014g0210 others(3): Show a0001c0001t0014g0202 a0001c0001t0014g0209 a0001c0001t0014g0210 a0001c0001t0014g0213 a0001c0001t0108g0258 a0001c0001t0109g0218	6	340	0.0177	18	c.10 others(29): Show c.1094_*1095insATATATATATATATATAA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1094		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179482	T T	TTATATAT others(11): Show TTATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0253 a0001c0001t0110g0253	1	340	0.0029	18	c.10 others(29): Show c.1093_*1094insTATATATATATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1093		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179488	A A	ATATATAT others(11): Show ATATATATATATATATATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp2 others(1): Show HG00280.hp1 HG00280.hp2 HG00423.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0236 a0001c0001t0017g0269 a0001c0001t0017g0270 others(1): Show a0001c0001t0017g0236 a0001c0001t0017g0269 a0001c0001t0017g0270 a0001c0001t0017g0336	4	340	0.0118	18	c.10 others(29): Show c.1087_*1088insAATATATATATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1087		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51190750	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0056 a0001c0001t0018g0056	1	340	0.0029	18	c.176 others(37): Show c.1768+1452_1768+1453insATATATATATATATTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	16/16			chr17	TogoVar
MBTD1_chr17_51172425_51265049	51194566	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03516.hp2 HG03579.hp2 others(1): Show HG02970.hp1 HG03516.hp2 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0022 a0001c0001t0029 a0001c0001t0019 a0001c0001t0022 a0001c0001t0029	a0001c0001t0019g0077 a0001c0001t0022g0079 a0001c0001t0022g0080 others(1): Show a0001c0001t0019g0077 a0001c0001t0022g0079 a0001c0001t0022g0080 a0001c0001t0029g0059	4	340	0.0118	18	c.137 others(35): Show c.1372+630_1372+647dupTTTTTTTTTTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	13/16			chr17	TogoVar
MBTPS2_chrX_21834617_21890423	21862919	C C	CACATATA others(11): Show CACATATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG06807.hp1 HG02280.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0276 a0001c0002t0002g0277	2	308	0.0065	18	c.671 others(35): Show c.671-5547_671-5546insCATATATATAAATATATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
MBTPS2_chrX_21834617_21890423	21862933	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00558.hp1 others(23): Show HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00642.hp1 HG00733.hp2 HG01952.hp1 HG02071.hp1 HG02083.hp1 HG02155.hp1 HG02523.hp1 HG02738.hp1 HG04228.hp1 NA18940.hp1 NA18942.hp1 NA18949.hp1 NA18955.hp1 NA18978.hp1 NA18989.hp1 NA19000.hp1 NA19001.hp2 NA19006.hp1 NA19010.hp1 NA19030.hp2 NA19055.hp1 NA19067.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0002t0004 a0002c0004t0002	a0001c0001t0001g0013 a0001c0001t0001g0139 a0001c0001t0001g0141 others(20): Show a0001c0001t0001g0013 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0155 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0210 a0001c0001t0001g0221 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0264 a0001c0001t0006g0222 a0001c0002t0002g0004 a0001c0002t0002g0070 a0001c0002t0002g0090 a0001c0002t0002g0094 a0001c0002t0002g0104 a0001c0002t0004g0006 a0001c0002t0004g0112 a0001c0002t0004g0123 a0002c0004t0002g0043	26	308	0.0844	18	c.671 others(35): Show c.671-5516_671-5499dupTATATATATATATATATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
MBTPS2_chrX_21834617_21890423	21879949	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01891.hp2 HG02559.hp1 others(4): Show HG01081.hp1 HG01891.hp2 HG02559.hp1 HG02622.hp1 HG03139.hp1 HG03195.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0250 a0001c0002t0003g0052 a0001c0002t0003g0106 others(4): Show a0001c0001t0001g0250 a0001c0002t0003g0052 a0001c0002t0003g0106 a0001c0002t0003g0108 a0001c0002t0003g0124 a0001c0002t0003g0126 a0001c0002t0003g0279	7	308	0.0227	18	c.126 others(35): Show c.1262-944_1262-927dupTTTTTTTTTTTTTTTTTT	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
MC2R_chr18_13877044_13920536	13904624	C C	CTACAGTA others(11): Show CTACAGTAACCAAAACAGG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02129.hp2 HG02155.hp1 others(14): Show HG02015.hp1 HG02129.hp2 HG02155.hp1 HG02622.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 NA18522.hp1 NA18906.hp1 NA19010.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0024 a0001c0001t0028 a0001c0001t0034 others(7): Show a0001c0001t0024 a0001c0001t0028 a0001c0001t0034 a0001c0001t0062 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0077 a0003c0003t0031	a0001c0001t0024g0024 a0001c0001t0024g0069 a0001c0001t0028g0232 others(13): Show a0001c0001t0024g0024 a0001c0001t0024g0069 a0001c0001t0028g0232 a0001c0001t0028g0233 a0001c0001t0028g0234 a0001c0001t0034g0072 a0001c0001t0034g0075 a0001c0001t0062g0074 a0001c0001t0066g0076 a0001c0001t0067g0070 a0001c0001t0068g0073 a0001c0001t0070g0071 a0001c0001t0077g0235 a0003c0003t0031g0236 a0003c0003t0031g0237 a0003c0003t0031g0238	17	416	0.0409	18	c.-12 others(39): Show c.-129+10846_-129+10863dupCCTGTTTTGGTTACTGTA	MC2R	ENSG00000185231.5	transcript	ENST00000327606.4	protein_coding	1/1			chr18	TogoVar
MC2R_chr18_13877044_13920536	13908706	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0316 a0001c0001t0011g0316	1	416	0.0024	18	c.-12 others(37): Show c.-129+6764_-129+6781dupCACACACACACACACACA	MC2R	ENSG00000185231.5	transcript	ENST00000327606.4	protein_coding	1/1			chr18	TogoVar
MCCC2_chr5_71582340_71663706	71633091	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19043.hp1 HG02965.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0005	2	350	0.0057	18	c.803 others(33): Show c.803+930_803+947dupATATATATATATATATAT	MCCC2	ENSG00000131844.17	transcript	ENST00000340941.11	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
MCCC2_chr5_71582340_71663706	71633131	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTATTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	350	0.0029	18	c.803 others(33): Show c.803+951_803+952insTTTTTTTATTTTTTTTTT	MCCC2	ENSG00000131844.17	transcript	ENST00000340941.11	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
MCCC2_chr5_71582340_71663706	71633131	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	350	0.0029	18	c.803 others(33): Show c.803+951_803+952insTTTTTTTTTTTTTTTTTT	MCCC2	ENSG00000131844.17	transcript	ENST00000340941.11	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
MCC_chr5_113017106_113493453	113132421	C C	CATACATA others(11): Show CATACATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19010.hp1 NA18945.hp1 NA19010.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0033 a0002c0001t0003 a0002c0001t0033	a0002c0001t0003g0126 a0002c0001t0033g0142 a0002c0001t0003g0126 a0002c0001t0033g0142	2	160	0.0125	18	c.885 others(35): Show c.885-9596_885-9595insATATATATATATATGTAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	5/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113327557	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0013 a0003c0006t0002g0013	1	160	0.0063	18	c.627 others(37): Show c.627+12961_627+12962insATATATATATATATATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113327561	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0016 a0003c0006t0002g0016	1	160	0.0063	18	c.627 others(37): Show c.627+12940_627+12957dupATATATATATATATATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113333794	T T	TATATATG others(11): Show TATATATGTATATATGTAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01074.hp1 HG01891.hp1 others(9): Show HG00408.hp1 HG01074.hp1 HG01891.hp1 HG02055.hp2 HG02145.hp2 HG02572.hp1 HG02622.hp2 HG02809.hp1 HG02976.hp2 HG03225.hp1 NA18612.hp2 NA18942.hp1	a0001 a0001	a0001c0008 a0001c0010 a0001c0011 others(5): Show a0001c0008 a0001c0010 a0001c0011 a0001c0016 a0001c0017 a0001c0024 a0001c0042 a0001c0044	a0001c0008t0017 a0001c0008t0044 a0001c0010t0018 others(8): Show a0001c0008t0017 a0001c0008t0044 a0001c0010t0018 a0001c0011t0001 a0001c0011t0004 a0001c0016t0006 a0001c0016t0023 a0001c0017t0002 a0001c0024t0009 a0001c0042t0001 a0001c0044t0010	a0001c0008t0017g0050 a0001c0008t0044g0046 a0001c0010t0018g0049 others(9): Show a0001c0008t0017g0050 a0001c0008t0044g0046 a0001c0010t0018g0049 a0001c0011t0001g0039 a0001c0011t0004g0048 a0001c0011t0004g0051 a0001c0016t0006g0052 a0001c0016t0023g0047 a0001c0017t0002g0040 a0001c0024t0009g0056 a0001c0042t0001g0038 a0001c0044t0010g0053	12	160	0.0750	18	c.627 others(35): Show c.627+6724_627+6725insGTACATATATACATATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113354802	A A	ATTATTAT others(11): Show ATTATTATTATTATTATTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02055.hp1 HG02559.hp1 others(8): Show HG00741.hp2 HG02055.hp1 HG02559.hp1 HG02559.hp2 HG02723.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03209.hp1 HG03453.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0007 a0001c0008 a0001c0010 others(6): Show a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0018 a0001c0027 a0003c0035 a0003c0037 a0003c0039	a0001c0007t0006 a0001c0007t0020 a0001c0008t0004 others(7): Show a0001c0007t0006 a0001c0007t0020 a0001c0008t0004 a0001c0010t0005 a0001c0011t0004 a0001c0018t0007 a0001c0027t0001 a0003c0035t0001 a0003c0037t0032 a0003c0039t0004	a0001c0007t0006g0102 a0001c0007t0020g0103 a0001c0008t0004g0066 others(8): Show a0001c0007t0006g0102 a0001c0007t0020g0103 a0001c0008t0004g0066 a0001c0010t0005g0036 a0001c0011t0004g0054 a0001c0018t0007g0104 a0001c0018t0007g0105 a0001c0027t0001g0071 a0003c0035t0001g0001 a0003c0037t0032g0025 a0003c0039t0004g0029	11	160	0.0688	18	c.416 others(37): Show c.416-14073_416-14072insCAATAATAATAATAATAA	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	2/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113386754	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01243.hp2 HG03130.hp1 others(3): Show HG00408.hp2 HG01243.hp2 HG03130.hp1 NA19010.hp1 NA19043.hp2 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0017 a0001c0043 a0001c0047 others(1): Show a0001c0017 a0001c0043 a0001c0047 a0002c0001	a0001c0017t0003 a0001c0043t0021 a0001c0047t0002 others(2): Show a0001c0017t0003 a0001c0043t0021 a0001c0047t0002 a0002c0001t0002 a0002c0001t0003	a0001c0017t0003g0044 a0001c0043t0021g0043 a0001c0047t0002g0041 others(3): Show a0001c0017t0003g0044 a0001c0043t0021g0043 a0001c0047t0002g0041 a0002c0001t0002g0124 a0002c0001t0002g0125 a0002c0001t0003g0126	6	160	0.0375	18	c.171 others(35): Show c.171-1560_171-1543dupATATATATATATATATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	1/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113443991	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01258.hp2 HG01496.hp1 others(12): Show HG00733.hp2 HG01258.hp2 HG01496.hp1 HG02615.hp1 HG02622.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG03041.hp1 HG03209.hp1 NA18522.hp1 NA19030.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0008 a0001c0009 a0001c0010 others(7): Show a0001c0008 a0001c0009 a0001c0010 a0001c0017 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0041 a0001c0045	a0001c0008t0031 a0001c0009t0008 a0001c0010t0005 others(9): Show a0001c0008t0031 a0001c0009t0008 a0001c0010t0005 a0001c0010t0028 a0001c0017t0006 a0001c0021t0008 a0001c0022t0001 a0001c0023t0010 a0001c0023t0040 a0001c0024t0009 a0001c0041t0045 a0001c0045t0027	a0001c0008t0031g0034 a0001c0009t0008g0110 a0001c0009t0008g0111 others(12): Show a0001c0008t0031g0034 a0001c0009t0008g0110 a0001c0009t0008g0111 a0001c0010t0005g0033 a0001c0010t0005g0036 a0001c0010t0028g0035 a0001c0017t0006g0055 a0001c0021t0008g0058 a0001c0022t0001g0032 a0001c0022t0001g0064 a0001c0023t0010g0059 a0001c0023t0040g0057 a0001c0024t0009g0056 a0001c0041t0045g0067 a0001c0045t0027g0061	15	160	0.0938	18	c.170 others(37): Show c.170+44236_170+44253dupCACACACACACACACACA	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	1/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113459825	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02683.hp2 HG01099.hp1 HG02683.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0035 a0001c0003t0001 a0001c0004t0035	a0001c0003t0001g0083 a0001c0004t0035g0084 a0001c0003t0001g0083 a0001c0004t0035g0084	2	160	0.0125	18	c.170 others(37): Show c.170+28402_170+28419dupGTGTGTGTGTGTGTGTGT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	1/18			chr5	TogoVar
MCEE_chr2_71104687_71135229	71106071	T T	TACACACA others(11): Show TACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG01074.hp2 others(27): Show HG00423.hp2 HG00609.hp1 HG01074.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01891.hp1 HG01975.hp2 HG02004.hp2 HG02056.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02293.hp1 HG03017.hp1 HG03139.hp1 NA18612.hp2 NA18940.hp1 NA18954.hp1 NA18956.hp1 NA18989.hp1 NA18990.hp1 NA18998.hp1 NA19003.hp2 NA19009.hp2 NA19063.hp2 NA19068.hp2 NA19091.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0098 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0098 a0002c0002t0001g0001 a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0040 a0002c0002t0001g0043 a0002c0002t0001g0122 a0002c0002t0001g0128 a0002c0002t0001g0137 a0002c0002t0001g0141	30	418	0.0718	18	c.38 others(29): Show c.3898_*3899insGTGTGTGTGTGTGTGTGT	MCEE	ENSG00000124370.11	transcript	ENST00000244217.6	protein_coding		3615		chr2	TogoVar
MCEE_chr2_71104687_71135229	71108015	T T	TATATGTG others(11): Show TATATGTGTTTCACTTAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG01167.hp2 HG01243.hp2 others(24): Show HG00438.hp1 HG01167.hp2 HG01243.hp2 HG02055.hp2 HG02280.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03579.hp1 HG06807.hp2 NA18906.hp2 NA18992.hp1 NA19010.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0002 a0001c0001t0002 a0004c0004t0002	a0001c0001t0002g0005 a0001c0001t0002g0230 a0001c0001t0002g0231 others(11): Show a0001c0001t0002g0005 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0004c0004t0002g0026 a0004c0004t0002g0063 a0004c0004t0002g0064 a0004c0004t0002g0227 a0004c0004t0002g0228 a0004c0004t0002g0229	27	418	0.0646	18	c.19 others(29): Show c.1954_*1955insGTTAAGTGAAACACATAT	MCEE	ENSG00000124370.11	transcript	ENST00000244217.6	protein_coding		1671		chr2	TogoVar

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