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 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
MICAL3_chr22_17782649_18029561	17877157	G G	GGTTATGG others(11): Show GGTTATGGAGGTTAGGGAA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0002 a0001c0065t0002	a0001c0065t0002g0029 a0001c0065t0002g0029	1	274	0.0037	18	c.224 others(37): Show c.2242-5135_2242-5134insTTCCCTAACCTCCATAAC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877211	G G	GGTTATGG others(11): Show GGTTATGGAGGTTATGGCA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0170 a0001c0001t0004g0170	1	274	0.0037	18	c.224 others(37): Show c.2242-5189_2242-5188insTGCCATAACCTCCATAAC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877223	T T	TAGGGAGG others(11): Show TAGGGAGGTTATGGAGGTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0031 a0031	a0031c0053 a0031c0053	a0031c0053t0005 a0031c0053t0005	a0031c0053t0005g0084 a0031c0053t0005g0084	1	274	0.0037	18	c.224 others(37): Show c.2242-5201_2242-5200insCACCTCCATAACCTCCCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877270	T T	TGGAGGTT others(11): Show TGGAGGTTAGGGAGGTTAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19240.hp1 HG03041.hp2 NA19240.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0009 a0006c0009t0002 a0006c0009t0009	a0006c0009t0002g0030 a0006c0009t0009g0242 a0006c0009t0002g0030 a0006c0009t0009g0242	2	274	0.0073	18	c.224 others(37): Show c.2242-5248_2242-5247insCTAACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877333	T T	TGGCAGTT others(11): Show TGGCAGTTATGGAGGTGAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0059 a0009c0014t0001g0086 a0009c0014t0001g0059 a0009c0014t0001g0086	2	274	0.0073	18	c.224 others(37): Show c.2242-5311_2242-5310insCTCACCTCCATAACTGCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877369	G G	GGGAAGTT others(11): Show GGGAAGTTAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA19054.hp2 NA20905.hp2 HG01071.hp2 NA19054.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0114 a0001c0001t0002g0154 a0002c0003t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0154 a0002c0003t0002g0113	3	274	0.0110	18	c.224 others(37): Show c.2242-5347_2242-5346insATAACCTCCCTAACTTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877369	G G	GGGAAGTT others(11): Show GGGAAGTTATGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19088.hp1 NA20129.hp2 HG02451.hp1 NA19088.hp1 NA20129.hp2	a0001 a0024 a0001 a0024	a0001c0001 a0001c0002 a0024c0036 a0001c0001 a0001c0002 a0024c0036	a0001c0001t0011 a0001c0002t0002 a0024c0036t0002 a0001c0001t0011 a0001c0002t0002 a0024c0036t0002	a0001c0001t0011g0079 a0001c0002t0002g0262 a0024c0036t0002g0202 a0001c0001t0011g0079 a0001c0002t0002g0262 a0024c0036t0002g0202	3	274	0.0110	18	c.224 others(37): Show c.2242-5347_2242-5346insATAACCTCCATAACTTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877369	G G	GGGAGGTT others(11): Show GGGAGGTTATGGAGGTTAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19066.hp2 NA18952.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0053 a0001c0001t0007g0212 a0001c0001t0001g0053 a0001c0001t0007g0212	2	274	0.0073	18	c.224 others(37): Show c.2242-5347_2242-5346insATAACCTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877475	T T	TAGGGAGG others(11): Show TAGGGAGGTTAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0002 a0011c0017t0002	a0011c0017t0002g0246 a0011c0017t0002g0246	1	274	0.0037	18	c.224 others(37): Show c.2242-5453_2242-5452insCACCTCCCTAACCTCCCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877486	T T	TGGAGGTT others(11): Show TGGAGGTTATGGAGGTGAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0027 a0027	a0027c0039 a0027c0039	a0027c0039t0002 a0027c0039t0002	a0027c0039t0002g0023 a0027c0039t0002g0023	1	274	0.0037	18	c.224 others(37): Show c.2242-5464_2242-5463insCTCACCTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877520	T T	TAGGGAGG others(11): Show TAGGGAGGTTATGGAGGTG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0214 a0003c0004t0001g0214	1	274	0.0037	18	c.224 others(37): Show c.2242-5498_2242-5497insCACCTCCATAACCTCCCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877529	G G	GAGGGAGG others(11): Show GAGGGAGGTTATGGAGGTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0002 a0002c0030t0002	a0002c0030t0002g0184 a0002c0030t0002g0184	1	274	0.0037	18	c.224 others(37): Show c.2242-5507_2242-5506insAACCTCCATAACCTCCCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877547	G G	GAGGGAGG others(11): Show GAGGGAGGTTATGGAGGTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0021 a0021	a0021c0054 a0021c0054	a0021c0054t0003 a0021c0054t0003	a0021c0054t0003g0094 a0021c0054t0003g0094	1	274	0.0037	18	c.224 others(37): Show c.2242-5542_2242-5525dupAACCTCCATAACCTCCCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17919076	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02896.hp1 HG02897.hp2 others(3): Show HG02723.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp2 NA19240.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0003 a0006c0009t0009 others(1): Show a0006c0009t0002 a0006c0009t0003 a0006c0009t0009 a0006c0009t0028	a0006c0009t0002g0015 a0006c0009t0002g0016 a0006c0009t0002g0030 others(3): Show a0006c0009t0002g0015 a0006c0009t0002g0016 a0006c0009t0002g0030 a0006c0009t0003g0189 a0006c0009t0009g0242 a0006c0009t0028g0241	6	274	0.0219	18	c.-74 others(37): Show c.-74-12191_-74-12190insAAAAAAAAAAAAAAAAAA	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	1/31			chr22	TogoVar
MICALL2_chr7_1429359_1464470	1436385	A A	AAAAAACA others(11): Show AAAAAACAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18964.hp1 NA18967.hp1 others(4): Show HG00673.hp2 NA18964.hp1 NA18967.hp1 NA18983.hp2 NA18994.hp2 NA19066.hp2 NA20129.hp1	a0002 a0009 a0002 a0009	a0002c0003 a0002c0071 a0009c0068 a0002c0003 a0002c0071 a0009c0068	a0002c0003t0002 a0002c0003t0004 a0002c0071t0002 others(1): Show a0002c0003t0002 a0002c0003t0004 a0002c0071t0002 a0009c0068t0003	a0002c0003t0002g0178 a0002c0003t0002g0179 a0002c0003t0002g0184 others(4): Show a0002c0003t0002g0178 a0002c0003t0002g0179 a0002c0003t0002g0184 a0002c0003t0004g0015 a0002c0003t0004g0016 a0002c0071t0002g0180 a0009c0068t0003g0044	7	280	0.0250	18	c.259 others(35): Show c.2591+356_2591+357insGTTTTTGTTTTTGTTTTT	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	15/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446250	G G	GGGAGAGG others(11): Show GGGAGAGGAGGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0031 a0031	a0031c0049 a0031c0049	a0031c0049t0001 a0031c0049t0001	a0031c0049t0001g0104 a0031c0049t0001g0104	1	280	0.0036	18	c.641 others(33): Show c.641+445_641+462dupTCCTCCCCCCTCCTCTCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446259	G G	GGGGGGAG others(11): Show GGGGGGAGGAGGGAGAGGA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0029 a0029	a0029c0053 a0029c0053	a0029c0053t0001 a0029c0053t0001	a0029c0053t0001g0127 a0029c0053t0001g0127	1	280	0.0036	18	c.641 others(33): Show c.641+453_641+454insTCCTCTCCCTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICA_chr6_31398595_31420315	31409309	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00621.hp2 others(26): Show HG00323.hp1 HG00438.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01257.hp1 HG02132.hp1 HG02148.hp2 HG04204.hp2 NA18951.hp1 NA18960.hp1 NA18961.hp1 NA18965.hp2 NA18970.hp2 NA18972.hp2 NA18977.hp1 NA18985.hp1 NA18989.hp1 NA19000.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp2 NA19240.hp2 NA20805.hp1 NA20805.hp2	a0000 a0000	a0000c0008 a0000c0009 a0000c0012 a0000c0008 a0000c0009 a0000c0012	a0000c0008t0004 a0000c0009t0005 a0000c0012t0004 a0000c0008t0004 a0000c0009t0005 a0000c0012t0004	a0000c0008t0004g0008 a0000c0008t0004g0067 a0000c0008t0004g0069 others(8): Show a0000c0008t0004g0008 a0000c0008t0004g0067 a0000c0008t0004g0069 a0000c0008t0004g0078 a0000c0008t0004g0110 a0000c0009t0005g0056 a0000c0009t0005g0058 a0000c0009t0005g0106 a0000c0009t0005g0107 a0000c0009t0005g0114 a0000c0012t0004g0019	29	439	0.0661	18	c.71- others(33): Show c.71-1221_71-1220insGTGTGTGTGTGTGTGTGT	MICA	ENSG00000204520.14	transcript	ENST00000449934.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
MICA_chr6_31398595_31420315	31419282	G G	GTCTGTAT others(11): Show GTCTGTATATATCATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0004 a0001c0003t0002g0004	1	439	0.0023	18	c.43 others(29): Show c.4300_*4301insTCTGTATATATCATATTT	MICA	ENSG00000204520.14	transcript	ENST00000449934.7	protein_coding		3968		chr6	TogoVar
MICB_chr6_31493145_31516124	31503949	C C	CTGTTTGT others(11): Show CTGTTTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02155.hp1 HG02523.hp1 others(7): Show HG02109.hp2 HG02155.hp1 HG02523.hp1 HG02572.hp1 HG02647.hp1 HG03486.hp1 NA18522.hp2 NA18954.hp1 NA18980.hp2 NA19080.hp1	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0002 a0004c0005 a0007c0008 a0002c0002 a0004c0005 a0007c0008	a0002c0002t0001 a0002c0002t0004 a0004c0005t0001 others(1): Show a0002c0002t0001 a0002c0002t0004 a0004c0005t0001 a0007c0008t0001	a0002c0002t0001g0160 a0002c0002t0001g0169 a0002c0002t0001g0177 others(6): Show a0002c0002t0001g0160 a0002c0002t0001g0169 a0002c0002t0001g0177 a0002c0002t0004g0136 a0004c0005t0001g0132 a0004c0005t0001g0141 a0004c0005t0001g0142 a0007c0008t0001g0053 a0007c0008t0001g0129	10	459	0.0218	18	c.71- others(33): Show c.71-1665_71-1664insTTGTGTGTGTGTGTGTGT	MICB	ENSG00000204516.10	transcript	ENST00000252229.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
MICB_chr6_31493145_31516124	31504246	C C	CTTTCTTT others(11): Show CTTTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02080.hp2 HG02083.hp2 others(4): Show HG01934.hp2 HG02080.hp2 HG02083.hp2 HG03704.hp1 HG04115.hp2 HG04184.hp1 NA21309.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0015 a0005c0006t0002g0098 a0005c0006t0002g0100 a0005c0006t0002g0015 a0005c0006t0002g0098 a0005c0006t0002g0100	7	459	0.0153	18	c.71- others(33): Show c.71-1370_71-1369insTTCTTTTTTTTTTTTTTT	MICB	ENSG00000204516.10	transcript	ENST00000252229.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
MICU1_chr10_72362340_72631079	72456946	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGGGTGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03225.hp1 HG02572.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0202 a0001c0001t0004g0204 a0001c0001t0002g0202 a0001c0001t0004g0204	2	208	0.0096	18	c.933 others(37): Show c.933+18153_933+18154insACACCCACACACACACAC	MICU1	ENSG00000107745.20	transcript	ENST00000361114.10	protein_coding	8/11			chr10	TogoVar
MICU1_chr10_72362340_72631079	72512100	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	208	0.0048	18	c.538 others(35): Show c.538-3832_538-3831insAAAAAAAAAAAAAAAAAA	MICU1	ENSG00000107745.20	transcript	ENST00000361114.10	protein_coding	5/11			chr10	TogoVar
MICU1_chr10_72362340_72631079	72530372	A A	AATAATAA others(11): Show AATAATAATAATAATAATG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01106.hp2 HG01884.hp2 others(3): Show HG01074.hp1 HG01106.hp2 HG01884.hp2 HG02735.hp1 HG03654.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0064 a0001c0001t0002g0040 a0001c0001t0002g0044 others(3): Show a0001c0001t0001g0064 a0001c0001t0002g0040 a0001c0001t0002g0044 a0001c0001t0002g0051 a0001c0001t0002g0063 a0001c0001t0002g0195	6	208	0.0289	18	c.537 others(35): Show c.537+3373_537+3374insCATTATTATTATTATTAT	MICU1	ENSG00000107745.20	transcript	ENST00000361114.10	protein_coding	5/11			chr10	TogoVar
MICU1_chr10_72362340_72631079	72569206	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0100 a0001c0001t0004g0100	1	208	0.0048	18	c.-1- others(33): Show c.-1-2430_-1-2413dupATATATATATATATATAT	MICU1	ENSG00000107745.20	transcript	ENST00000361114.10	protein_coding	1/11			chr10	TogoVar
MICU3_chr8_17022238_17127642	17031262	T T	TTTTTTTT others(11): Show TTTTTTTTTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG02559.hp2 others(1): Show HG01891.hp2 HG02258.hp2 HG02559.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0001 a0002c0002t0001 a0001c0006t0001 a0002c0002t0001	a0001c0006t0001g0237 a0001c0006t0001g0238 a0001c0006t0001g0239 others(1): Show a0001c0006t0001g0237 a0001c0006t0001g0238 a0001c0006t0001g0239 a0002c0002t0001g0179	4	374	0.0107	18	c.381 others(35): Show c.381+3604_381+3605insTTTTTTATTATTATTATT	MICU3	ENSG00000155970.12	transcript	ENST00000318063.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
MICU3_chr8_17022238_17127642	17066517	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03041.hp1 HG03471.hp1 HG02886.hp1 HG03041.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0025 a0001c0001t0001 a0001c0001t0006 a0001c0001t0025	a0001c0001t0001g0355 a0001c0001t0006g0017 a0001c0001t0025g0018 a0001c0001t0001g0355 a0001c0001t0006g0017 a0001c0001t0025g0018	3	374	0.0080	18	c.535 others(35): Show c.535+2287_535+2304dupTATATATATATATATATA	MICU3	ENSG00000155970.12	transcript	ENST00000318063.10	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
MID1_chrX_10440556_10625585	10510830	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19030.hp1 HG02109.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0007 a0001c0002t0001 a0001c0002t0007	a0001c0002t0001g0156 a0001c0002t0007g0152 a0001c0002t0001g0156 a0001c0002t0007g0152	2	165	0.0121	18	c.756 others(37): Show c.756+12244_756+12261dupTTTTTTTTTTTTTTTTTT	MID1	ENSG00000101871.18	transcript	ENST00000317552.9	protein_coding	3/9			chrX	TogoVar
MID1_chrX_10440556_10625585	10613732	T T	TATATATA others(11): Show TATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02630.hp2 HG00323.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0143 a0001c0001t0001g0012 a0001c0001t0001g0143	2	165	0.0121	18	c.-57 others(35): Show c.-57+6557_-57+6558insCTCTCTCTCTATATATAT	MID1	ENSG00000101871.18	transcript	ENST00000317552.9	protein_coding	1/9			chrX	TogoVar
MID1_chrX_10440556_10625585	10613732	T T	TATATATA others(11): Show TATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG01109.hp1 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0144 a0001c0002t0001g0108 a0001c0001t0001g0144 a0001c0002t0001g0108	2	165	0.0121	18	c.-57 others(35): Show c.-57+6557_-57+6558insCTCTCTATATATATATAT	MID1	ENSG00000101871.18	transcript	ENST00000317552.9	protein_coding	1/9			chrX	TogoVar
MID1_chrX_10440556_10625585	10613732	T T	TATATATA others(11): Show TATATATATATATATATAG	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	165	0.0061	18	c.-57 others(35): Show c.-57+6557_-57+6558insCTATATATATATATATAT	MID1	ENSG00000101871.18	transcript	ENST00000317552.9	protein_coding	1/9			chrX	TogoVar
MID2_chrX_107820866_107936637	107845525	A A	ACACACAC others(11): Show ACACACACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	181	0.0055	18	c.720 others(35): Show c.720+4141_720+4142insACACACTCTCTCTCTCTC	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MID2_chrX_107820866_107936637	107845525	A A	ACACACTC others(11): Show ACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03098.hp1 HG02723.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0015 a0001c0001t0003g0010 a0001c0001t0003g0015	2	181	0.0111	18	c.720 others(35): Show c.720+4141_720+4142insACACTCTCTCTCTCTCTC	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MID2_chrX_107820866_107936637	107845525	A A	ACACTCTC others(11): Show ACACTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	181	0.0055	18	c.720 others(35): Show c.720+4141_720+4142insACTCTCTCTCTCTCTCTC	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MIDEAS_chr14_73710122_73765303	73756295	T T	TGTGTATG others(11): Show TGTGTATGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0090 a0006c0012t0090	a0006c0012t0090g0195 a0006c0012t0090g0195	1	352	0.0028	18	c.-24 others(37): Show c.-248+3467_-248+3468insGCGCGCGCACACATACAC	MIDEAS	ENSG00000156030.14	transcript	ENST00000423556.7	protein_coding	1/12			chr14	TogoVar
MIDEAS_chr14_73710122_73765303	73756295	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0135 a0001c0001t0016g0135	1	352	0.0028	18	c.-24 others(37): Show c.-248+3467_-248+3468insGCGCGCACACACACACAC	MIDEAS	ENSG00000156030.14	transcript	ENST00000423556.7	protein_coding	1/12			chr14	TogoVar
MIDEAS_chr14_73710122_73765303	73756295	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03098.hp1 HG06807.hp2 HG02922.hp2 HG03098.hp1 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0016 a0004c0005t0006 a0001c0001t0016 a0004c0005t0006	a0001c0001t0016g0133 a0004c0005t0006g0128 a0004c0005t0006g0129 a0001c0001t0016g0133 a0004c0005t0006g0128 a0004c0005t0006g0129	3	352	0.0085	18	c.-24 others(37): Show c.-248+3467_-248+3468insGCGCACACACACACACAC	MIDEAS	ENSG00000156030.14	transcript	ENST00000423556.7	protein_coding	1/12			chr14	TogoVar
MIDEAS_chr14_73710122_73765303	73757279	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03098.hp1 HG03471.hp1 others(4): Show HG02040.hp2 HG03098.hp1 HG03471.hp1 HG03540.hp1 HG03927.hp2 HG06807.hp2 NA18972.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0005 a0001c0001 a0001c0004 a0004c0005	a0001c0001t0024 a0001c0001t0082 a0001c0004t0004 others(3): Show a0001c0001t0024 a0001c0001t0082 a0001c0004t0004 a0001c0004t0012 a0001c0004t0065 a0004c0005t0006	a0001c0001t0024g0127 a0001c0001t0082g0208 a0001c0004t0004g0207 others(4): Show a0001c0001t0024g0127 a0001c0001t0082g0208 a0001c0004t0004g0207 a0001c0004t0012g0130 a0001c0004t0065g0126 a0004c0005t0006g0128 a0004c0005t0006g0129	7	352	0.0199	18	c.-24 others(37): Show c.-248+2483_-248+2484insTTTTTTTTTTTTTTTTTT	MIDEAS	ENSG00000156030.14	transcript	ENST00000423556.7	protein_coding	1/12			chr14	TogoVar
MIEN1_chr17_39723510_39735532	39724272	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG04228.hp1 HG06807.hp2 HG01081.hp1 HG04228.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	364	0.0082	18	c.52 others(29): Show c.5249_*5250insAAAAAAAAAAAAAAAAAA	MIEN1	ENSG00000141741.12	transcript	ENST00000394231.8	protein_coding		4237		chr17	TogoVar
MIER2_chr19_300573_349796	346405	G G	GTGACTCA others(11): Show GTGACTCACACCTCTAATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0091	1	384	0.0026	18	c.-16 others(29): Show c.-1624_-1623insGATTAGAGGTGTGAGTCA	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding		1610		chr19	TogoVar
MIGA1_chr1_77774649_77884540	77871125	G G	GGGAGAGG others(11): Show GGGAGAGGGAGAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02055.hp1 HG02056.hp1 others(29): Show HG00438.hp2 HG02055.hp1 HG02056.hp1 HG02135.hp1 HG02165.hp1 HG02257.hp2 HG02451.hp1 HG02559.hp2 HG03139.hp1 HG03209.hp1 HG03516.hp1 HG03927.hp2 NA18522.hp1 NA18612.hp2 NA18946.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18973.hp1 NA18975.hp1 NA18982.hp1 NA18993.hp1 NA19001.hp1 NA19004.hp2 NA19011.hp1 NA19060.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 others(1): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0028	a0001c0001t0004g0036 a0001c0001t0004g0137 a0001c0001t0004g0138 others(29): Show a0001c0001t0004g0036 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0169 a0001c0001t0004g0246 a0001c0001t0011g0164 a0001c0001t0011g0165 a0001c0001t0011g0166 a0001c0001t0011g0167 a0001c0001t0012g0145 a0001c0001t0012g0162 a0001c0001t0012g0163 a0001c0001t0012g0170 a0001c0001t0028g0158	32	280	0.1143	18	c.146 others(37): Show c.1468-1878_1468-1877insGAGAGGGAGAGGAAGGAG	MIGA1	ENSG00000180488.17	transcript	ENST00000370791.9	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
MIGA1_chr1_77774649_77884540	77871125	G G	GGGAGAGG others(11): Show GGGAGAGGGAGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02809.hp2 others(1): Show HG02109.hp2 HG02280.hp2 HG02809.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0029 a0001c0001t0003 a0001c0001t0029	a0001c0001t0003g0171 a0001c0001t0003g0248 a0001c0001t0003g0263 others(1): Show a0001c0001t0003g0171 a0001c0001t0003g0248 a0001c0001t0003g0263 a0001c0001t0029g0042	4	280	0.0143	18	c.146 others(37): Show c.1468-1878_1468-1877insGAGAGGGAGAGGAGGGAG	MIGA1	ENSG00000180488.17	transcript	ENST00000370791.9	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
MINAR1_chr15_79427336_79477304	79439211	T T	TGGGTGGG others(11): Show TGGGTGGGGTGGGCAGTGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0013 a0013	a0013c0027 a0013c0027	a0013c0027t0006 a0013c0027t0006	a0013c0027t0006g0045 a0013c0027t0006g0045	1	390	0.0026	18	c.-51 others(35): Show c.-51+6672_-51+6673insGGTGGGGTGGGCAGTGAG	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MINAR1_chr15_79427336_79477304	79439211	T T	TGGGTGGG others(11): Show TGGGTGGGGTGGGTAGTGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00544.hp2 others(48): Show HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01169.hp1 HG01261.hp2 HG01928.hp2 HG01943.hp1 HG02027.hp2 HG02056.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02523.hp1 HG02683.hp2 HG02717.hp2 HG02970.hp1 HG03490.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG04115.hp2 HG04204.hp1 NA18940.hp2 NA18942.hp2 NA18945.hp1 NA18948.hp2 NA18961.hp2 NA18967.hp1 NA18969.hp1 NA18974.hp2 NA19010.hp1 NA19057.hp1 NA19068.hp1 NA19074.hp2 NA19083.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0011 a0015	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0012 a0002c0003 a0003c0005 a0003c0029 a0005c0010 a0011c0022 a0015c0019	a0001c0001t0001 a0001c0001t0019 a0001c0002t0002 others(13): Show a0001c0001t0001 a0001c0001t0019 a0001c0002t0002 a0001c0002t0023 a0001c0002t0034 a0001c0004t0001 a0001c0004t0004 a0001c0004t0028 a0001c0012t0001 a0002c0003t0003 a0003c0005t0003 a0003c0005t0006 a0003c0029t0005 a0005c0010t0020 a0011c0022t0022 a0015c0019t0002	a0001c0001t0001g0028 a0001c0001t0001g0110 a0001c0001t0001g0191 others(45): Show a0001c0001t0001g0028 a0001c0001t0001g0110 a0001c0001t0001g0191 a0001c0001t0001g0199 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0239 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0259 a0001c0001t0001g0279 a0001c0001t0019g0261 a0001c0001t0019g0288 a0001c0002t0002g0003 a0001c0002t0002g0198 a0001c0002t0002g0206 a0001c0002t0002g0274 a0001c0002t0002g0278 a0001c0002t0002g0285 a0001c0002t0002g0295 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0023g0177 a0001c0002t0034g0290 a0001c0004t0001g0035 a0001c0004t0004g0023 a0001c0004t0004g0167 a0001c0004t0004g0252 a0001c0004t0028g0160 a0001c0012t0001g0289 a0001c0012t0001g0291 a0002c0003t0003g0001 a0003c0005t0003g0248 a0003c0005t0006g0041 a0003c0005t0006g0042 a0003c0005t0006g0043 a0003c0005t0006g0044 a0003c0005t0006g0046 a0003c0005t0006g0047 a0003c0005t0006g0048 a0003c0029t0005g0178 a0005c0010t0020g0242 a0005c0010t0020g0314 a0011c0022t0022g0049 a0015c0019t0002g0153	51	390	0.1308	18	c.-51 others(35): Show c.-51+6672_-51+6673insGGTGGGGTGGGTAGTGAG	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MINAR1_chr15_79427336_79477304	79461825	A A	ACACATAC others(11): Show ACACATACAAGTGTGCTTC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0045 a0004c0009t0045	a0004c0009t0045g0182 a0004c0009t0045g0182	1	390	0.0026	18	c.229 others(37): Show c.2299-1239_2299-1222dupCATACAAGTGTGCTTCCA	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MINDY1_chr1_150991835_151011902	151008423	G G	GGCGGGGC others(11): Show GGCGGGGCGACGCCGGACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0075 a0004c0007t0001g0075	1	436	0.0023	18	c.-22 others(29): Show c.-2219_-2202dupAGTCCGGCGTCGCCCCGC	MINDY1	ENSG00000143409.18	transcript	ENST00000683666.2	protein_coding		1522		chr1	TogoVar
MINDY2_chr15_58766302_58866900	58782911	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18985.hp2 HG02165.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0027 a0001c0001t0005 a0001c0001t0027	a0001c0001t0005g0303 a0001c0001t0027g0328 a0001c0001t0005g0303 a0001c0001t0027g0328	2	384	0.0052	18	c.841 others(35): Show c.841-4986_841-4969dupTTTTTTTTTTTTTTTTTT	MINDY2	ENSG00000128923.11	transcript	ENST00000559228.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
MINDY2_chr15_58766302_58866900	58791215	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG01074.hp1 others(7): Show HG00140.hp2 HG00438.hp2 HG01074.hp1 HG01081.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG02109.hp2 NA18944.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0021 a0001c0001t0037 a0001c0001t0075 a0001c0001t0096	a0001c0001t0001g0184 a0001c0001t0003g0138 a0001c0001t0004g0268 others(7): Show a0001c0001t0001g0184 a0001c0001t0003g0138 a0001c0001t0004g0268 a0001c0001t0011g0160 a0001c0001t0012g0256 a0001c0001t0021g0258 a0001c0001t0037g0153 a0001c0001t0037g0154 a0001c0001t0075g0157 a0001c0001t0096g0152	10	384	0.0260	18	c.898 others(35): Show c.898+3276_898+3293dupATATATATATATATATAT	MINDY2	ENSG00000128923.11	transcript	ENST00000559228.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
MINDY2_chr15_58766302_58866900	58831041	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0253 a0001c0001t0004g0253	1	384	0.0026	18	c.122 others(35): Show c.1226-732_1226-731insGTATATATATATATATAT	MINDY2	ENSG00000128923.11	transcript	ENST00000559228.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
MINDY2_chr15_58766302_58866900	58831041	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01361.hp1 HG01981.hp2 others(6): Show HG00673.hp2 HG01361.hp1 HG01981.hp2 HG02135.hp1 HG03669.hp1 HG03688.hp2 NA18747.hp1 NA18943.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0020 a0001c0001t0056 a0001c0001t0060 a0001c0001t0062 a0001c0001t0099	a0001c0001t0002g0254 a0001c0001t0004g0244 a0001c0001t0004g0267 others(6): Show a0001c0001t0002g0254 a0001c0001t0004g0244 a0001c0001t0004g0267 a0001c0001t0009g0259 a0001c0001t0020g0315 a0001c0001t0056g0249 a0001c0001t0060g0264 a0001c0001t0062g0237 a0001c0001t0099g0239	9	384	0.0234	18	c.122 others(35): Show c.1226-732_1226-731insGTGTATATATATATATAT	MINDY2	ENSG00000128923.11	transcript	ENST00000559228.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr15	TogoVar

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