Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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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
MBNL3_chrX_132364320_132494038	132396752	T T	TCATATAT others(13): Show TCATATATATATTCATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02055.hp1 HG02071.hp1 others(4): Show HG01928.hp1 HG02055.hp1 HG02071.hp1 HG02970.hp1 HG03942.hp1 NA18977.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0016 a0001c0001t0001 a0001c0001t0014 a0001c0001t0016	a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0121 others(4): Show a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0121 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0014g0101 a0001c0001t0016g0050	7	191	0.0367	20	c.343 others(37): Show c.343-4438_343-4419dupTATATATGAATATATATATG	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396772	A A	ATTCATAT others(13): Show ATTCATATATACATATATATT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19005.hp1 NA19072.hp1 NA18966.hp1 NA19005.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0027 a0001c0001t0003 a0001c0001t0027	a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0027g0187 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0027g0187	3	191	0.0157	20	c.343 others(37): Show c.343-4439_343-4438insAATATATATGTATATATGAA	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBOAT1_chr6_20094684_20217469	20111806	A A	ATATATAT others(13): Show ATATATATACATATATATACG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0049 a0001c0001t0012g0049	1	336	0.0030	20	c.120 others(39): Show c.1209+1069_1209+1070insCGTATATATATGTATATATA	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	11/12			chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20111871	T T	TATATATA others(13): Show TATATATATACATATATATAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG02647.hp2 HG02145.hp1 HG02258.hp2 HG02647.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0010 a0001c0001 a0003c0003 a0006c0010	a0001c0001t0014 a0003c0003t0001 a0006c0010t0076 a0001c0001t0014 a0003c0003t0001 a0006c0010t0076	a0001c0001t0014g0136 a0003c0003t0001g0015 a0006c0010t0076g0320 a0001c0001t0014g0136 a0003c0003t0001g0015 a0006c0010t0076g0320	3	336	0.0089	20	c.120 others(39): Show c.1209+1004_1209+1005insGTATATATATGTATATATAT	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	11/12			chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20168599	G G	GAGAGAAG others(13): Show GAGAGAAGAGAAGAGAAGAGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03453.hp2 HG02723.hp1 HG03453.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0034 a0003c0003t0027 a0001c0001t0034 a0003c0003t0027	a0001c0001t0034g0003 a0003c0003t0027g0154 a0001c0001t0034g0003 a0003c0003t0027g0154	2	336	0.0060	20	c.100 others(39): Show c.100-15850_100-15831dupTCTCTTCTCTTCTCTTCTCT	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20208445	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18993.hp1 NA20805.hp2 NA18948.hp2 NA18993.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0145 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0002g0145 a0001c0001t0004g0123 a0001c0001t0004g0124	3	336	0.0089	20	c.99+ others(35): Show c.99+3690_99+3691insTTTTTTTTTTTTTTTTTTTT	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT2_chr2_8847690_9008684	8912299	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18984.hp1 HG03209.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0099 a0001c0001t0001g0070 a0001c0001t0001g0099	2	162	0.0124	20	c.300 others(37): Show c.300-3603_300-3584dupCTTTCTTTCTTTCTTTCTTT	MBOAT2	ENSG00000143797.12	transcript	ENST00000305997.8	protein_coding	3/12			chr2	TogoVar
MBOAT2_chr2_8847690_9008684	8912351	G G	GAAAGAAA others(13): Show GAAAGAAAGAAAGAAAGAGAA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0125 a0001c0001t0025g0125	1	162	0.0062	20	c.300 others(37): Show c.300-3636_300-3635insTTCTCTTTCTTTCTTTCTTT	MBOAT2	ENSG00000143797.12	transcript	ENST00000305997.8	protein_coding	3/12			chr2	TogoVar
MBOAT7_chr19_54168415_54194580	54168793	C C	CTTTCTTT others(13): Show CTTTCTTTTCTTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0358 a0001c0002t0004g0358	1	373	0.0027	20	c.52 others(31): Show c.5231_*5250dupAGAAAAGAAAAGAAAAGAAA	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding		4621		chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54188015	C C	CAAAAAGA others(13): Show CAAAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03486.hp1 HG02258.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0002 a0002c0004t0002 a0001c0002t0002 a0002c0004t0002	a0001c0002t0002g0219 a0002c0004t0002g0220 a0001c0002t0002g0219 a0002c0004t0002g0220	2	373	0.0054	20	c.206 others(35): Show c.206+201_206+202insTTCTTTCTTTCTTTCTTTTT	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	3/7			chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54188015	C C	CAGAAAGA others(13): Show CAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0351 a0001c0001t0003g0351	1	373	0.0027	20	c.206 others(35): Show c.206+182_206+201dupTTCTTTCTTTCTTTCTTTCT	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	3/7			chr19	TogoVar
MBP_chr18_76973833_77137783	76975154	C C	CCTTTTCT others(13): Show CCTTTTCTTTTCTTTTCTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0364 a0001c0001t0026g0364	1	396	0.0025	20	c.52 others(31): Show c.5272_*5273insAAAAGAAAAGAAAAGAAAAG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3678		chr18	TogoVar
MBP_chr18_76973833_77137783	76975180	C C	CTTCTGTT others(13): Show CTTCTGTTCTTTTCTTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01346.hp2 HG02896.hp1 others(6): Show HG01255.hp2 HG01346.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0010 a0001c0003t0010 a0001c0003t0024 others(1): Show a0001c0002t0010 a0001c0003t0010 a0001c0003t0024 a0001c0003t0025	a0001c0002t0010g0198 a0001c0003t0010g0005 a0001c0003t0010g0015 others(6): Show a0001c0002t0010g0198 a0001c0003t0010g0005 a0001c0003t0010g0015 a0001c0003t0010g0141 a0001c0003t0010g0210 a0001c0003t0010g0211 a0001c0003t0024g0219 a0001c0003t0025g0228 a0001c0003t0025g0245	9	396	0.0227	20	c.52 others(31): Show c.5246_*5247insAAGAAAAGAAAAGAACAGAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3652		chr18	TogoVar
MBP_chr18_76973833_77137783	76975180	C C	CTTCTTTT others(13): Show CTTCTTTTCTTTTCTTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	396	0.0025	20	c.52 others(31): Show c.5246_*5247insAAGAAAAGAAAAGAAAAGAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3652		chr18	TogoVar
MBP_chr18_76973833_77137783	77027982	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02257.hp1 HG02572.hp2 others(7): Show HG01255.hp2 HG02257.hp1 HG02572.hp2 HG02976.hp1 HG03516.hp2 NA18906.hp1 NA18947.hp1 NA18957.hp1 NA18993.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0018 a0001c0001t0031 a0001c0002t0029 a0001c0003t0010 a0001c0003t0025	a0001c0001t0001g0149 a0001c0001t0003g0169 a0001c0001t0005g0292 others(7): Show a0001c0001t0001g0149 a0001c0001t0003g0169 a0001c0001t0005g0292 a0001c0001t0007g0342 a0001c0001t0018g0222 a0001c0001t0031g0113 a0001c0002t0029g0393 a0001c0003t0010g0005 a0001c0003t0025g0228 a0001c0003t0025g0245	10	396	0.0253	20	c.140 others(39): Show c.140-10734_140-10715dupTAAATAAATAAATAAATAAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77028002	A A	ATTTATTT others(13): Show ATTTATTTATTTATTTATTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	396	0.0025	20	c.140 others(39): Show c.140-10735_140-10734insAAAATAAATAAATAAATAAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77033793	T T	TCCATCCA others(13): Show TCCATCCATCCATCCATCCAC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0155	1	396	0.0025	20	c.140 others(39): Show c.140-16526_140-16525insGTGGATGGATGGATGGATGG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77112169	G G	GCACACAC others(13): Show GCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02080.hp2 HG02451.hp2 others(6): Show HG01934.hp2 HG02080.hp2 HG02451.hp2 HG04204.hp1 NA18971.hp1 NA18973.hp1 NA19060.hp1 NA19074.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0003c0004t0013	a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0003g0101 others(6): Show a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0003g0101 a0001c0001t0003g0182 a0001c0002t0001g0156 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0183 a0003c0004t0013g0138	9	396	0.0227	20	c.-25 others(37): Show c.-25-6903_-25-6884dupTGTGTGTGTGTGTGTGTGTG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77112169	G G	GCGCACAC others(13): Show GCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0309 a0001c0002t0002g0309	1	396	0.0025	20	c.-25 others(37): Show c.-25-6884_-25-6883insTGTGTGTGTGTGTGTGTGCG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0045 a0001c0001t0012g0045	1	340	0.0029	20	c.41 others(31): Show c.4153_*4154insATATATATTTTTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0264 a0001c0001t0012g0264	1	340	0.0029	20	c.41 others(31): Show c.4153_*4154insATATATATATTTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01243.hp2 HG01943.hp2 HG01074.hp2 HG01243.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0112 a0001c0001t0119 a0001c0001t0012 a0001c0001t0112 a0001c0001t0119	a0001c0001t0012g0046 a0001c0001t0112g0287 a0001c0001t0119g0272 a0001c0001t0012g0046 a0001c0001t0112g0287 a0001c0001t0119g0272	3	340	0.0088	20	c.41 others(31): Show c.4153_*4154insATATATATATATTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0289 a0001c0001t0009g0289	1	340	0.0029	20	c.41 others(31): Show c.4153_*4154insATATATATATATATTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179481	A A	ATTATATA others(13): Show ATTATATATATATATATATTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0113 a0001c0001t0113	a0001c0001t0113g0205 a0001c0001t0113g0205	1	340	0.0029	20	c.10 others(31): Show c.1094_*1095insAAATATATATATATATATAA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1094		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179482	T T	TTATATAT others(13): Show TTATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0112	a0001c0001t0112g0287 a0001c0001t0112g0287	1	340	0.0029	20	c.10 others(31): Show c.1093_*1094insTATATATATATATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1093		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179486	A A	ATATATAT others(13): Show ATATATATATATATATATATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01175.hp2 others(1): Show HG01168.hp1 HG01169.hp1 HG01175.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0106 a0001c0001t0032 a0001c0001t0106	a0001c0001t0032g0265 a0001c0001t0032g0274 a0001c0001t0032g0318 others(1): Show a0001c0001t0032g0265 a0001c0001t0032g0274 a0001c0001t0032g0318 a0001c0001t0106g0278	4	340	0.0118	20	c.10 others(31): Show c.1089_*1090insAATATATATATATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1089		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179488	A A	ATATATAT others(13): Show ATATATATATATATATATATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0316 a0001c0001t0098g0316	1	340	0.0029	20	c.10 others(31): Show c.1087_*1088insAATATATATATATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1087		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179490	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0294 a0001c0001t0086g0294	1	340	0.0029	20	c.10 others(31): Show c.1085_*1086insAAAATATATATATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1085		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51190750	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0147 a0001c0001t0147	a0001c0001t0147g0185 a0001c0001t0147g0185	1	340	0.0029	20	c.176 others(39): Show c.1768+1452_1768+1453insATATATATATATATTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	16/16			chr17	TogoVar
MBTD1_chr17_51172425_51265049	51190750	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0039 a0001c0001t0057g0039	1	340	0.0029	20	c.176 others(39): Show c.1768+1452_1768+1453insATATATATATATATATTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	16/16			chr17	TogoVar
MBTD1_chr17_51172425_51265049	51194566	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0060 a0001c0001t0018g0060	1	340	0.0029	20	c.137 others(37): Show c.1372+628_1372+647dupTTTTTTTTTTTTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	13/16			chr17	TogoVar
MBTD1_chr17_51172425_51265049	51198812	G G	GTTGTTGT others(13): Show GTTGTTGTTTGAGATGGAGTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0047 a0001c0001t0096g0047	1	340	0.0029	20	c.122 others(39): Show c.1224+2760_1224+2779dupGACTCCATCTCAAACAACAA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	12/16			chr17	TogoVar
MBTPS2_chrX_21834617_21890423	21862845	T T	TATATATA others(13): Show TATATATATAAACATATATAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0265 a0001c0001t0013g0265	1	308	0.0033	20	c.671 others(37): Show c.671-5613_671-5612insAACATATATAAATATATATA	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(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01099.hp1 HG01515.hp1 others(16): Show HG00280.hp1 HG01099.hp1 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG02132.hp1 NA18941.hp1 NA18941.hp2 NA18951.hp2 NA18953.hp1 NA18970.hp1 NA18983.hp1 NA18987.hp2 NA18994.hp1 NA19074.hp2 NA19077.hp1 NA19085.hp1 NA19087.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0015 a0001c0001t0001 a0001c0002t0002 a0001c0002t0015	a0001c0001t0001g0140 a0001c0001t0001g0211 a0001c0001t0001g0227 others(16): Show a0001c0001t0001g0140 a0001c0001t0001g0211 a0001c0001t0001g0227 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0002t0002g0049 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0071 a0001c0002t0002g0085 a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0101 a0001c0002t0002g0105 a0001c0002t0002g0275 a0001c0002t0015g0032	19	308	0.0617	20	c.671 others(37): Show c.671-5518_671-5499dupTATATATATATATATATATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
MBTPS2_chrX_21834617_21890423	21862945	T T	TATAAACA others(13): Show TATAAACATATATATATAAAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0278 a0001c0002t0002g0278	1	308	0.0033	20	c.671 others(37): Show c.671-5519_671-5518insAACATATATATATAAACATA	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(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00733.hp1 HG00735.hp2 others(8): Show HG00140.hp1 HG00733.hp1 HG00735.hp2 HG02080.hp1 HG02145.hp1 HG02647.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03516.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0010 a0001c0002t0003 a0001c0001t0001 a0001c0001t0010 a0001c0002t0003	a0001c0001t0001g0020 a0001c0001t0001g0183 a0001c0001t0001g0184 others(8): Show a0001c0001t0001g0020 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0231 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0283 a0001c0001t0010g0263 a0001c0002t0003g0285	11	308	0.0357	20	c.126 others(37): Show c.1262-946_1262-927dupTTTTTTTTTTTTTTTTTTTT	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
MBTPS2_chrX_21834617_21890423	21888810	G G	GTATATAT others(13): Show GTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0285 a0001c0002t0003g0285	1	308	0.0033	20	c.61 others(31): Show c.6155_*6156insTATATATATATATATATATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding		3388		chrX	TogoVar
MC1R_chr16_89913862_89925972	89914267	C C	CTGTGTGT others(13): Show CTGTGTGTGTGGGTGCACATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	396	0.0025	20	c.-49 others(31): Show c.-4992_-4991insTGTGTGTGTGGGTGCACATT	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		4594		chr16	TogoVar
MC2R_chr18_13877044_13920536	13908706	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0305 a0001c0001t0036g0305	1	416	0.0024	20	c.-12 others(39): Show c.-129+6762_-129+6781dupCACACACACACACACACACA	MC2R	ENSG00000185231.5	transcript	ENST00000327606.4	protein_coding	1/1			chr18	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 NA18747.hp1 HG00558.hp1 NA18747.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0001c0001t0001g0000 a0002c0002t0001g0000	2	428	0.0047	20	c.-25 others(31): Show c.-2544_-2543insAAAAAAAAAATATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG02698.hp1 HG02698.hp2 others(8): Show HG01256.hp2 HG02698.hp1 HG02698.hp2 HG03688.hp2 HG04199.hp1 NA18944.hp2 NA18950.hp1 NA18952.hp1 NA19068.hp1 NA19086.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	11	428	0.0257	20	c.-25 others(31): Show c.-2544_-2543insAAAAAAAAAAAATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MCCC2_chr5_71582340_71663706	71633131	A A	ATATATTT others(13): Show ATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19060.hp2 NA19012.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0318 a0001c0001t0001g0127 a0001c0001t0001g0318	2	350	0.0057	20	c.803 others(35): Show c.803+947_803+948insATATTTTTTTTTTTTTTTTT	MCCC2	ENSG00000131844.17	transcript	ENST00000340941.11	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
MCC_chr5_113017106_113493453	113046710	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0037 a0002c0001t0037	a0002c0001t0037g0153 a0002c0001t0037g0153	1	160	0.0063	20	c.265 others(39): Show c.2655+2382_2655+2383insCTTTTTTTTTTTTTTTTTTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	16/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113046710	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAGAG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0127 a0002c0001t0002g0127	1	160	0.0063	20	c.265 others(39): Show c.2655+2382_2655+2383insCTCTTTTTTTTTTTTTTTTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	16/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113386754	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0122 a0002c0002t0012g0122	1	160	0.0063	20	c.171 others(37): Show c.171-1562_171-1543dupATATATATATATATATATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	1/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113443991	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19043.hp1 HG02886.hp2 NA19043.hp1	a0001 a0010 a0001 a0010	a0001c0008 a0010c0046 a0001c0008 a0010c0046	a0001c0008t0004 a0010c0046t0039 a0001c0008t0004 a0010c0046t0039	a0001c0008t0004g0066 a0010c0046t0039g0060 a0001c0008t0004g0066 a0010c0046t0039g0060	2	160	0.0125	20	c.170 others(39): Show c.170+44234_170+44253dupCACACACACACACACACACA	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	1/18			chr5	TogoVar
MCEE_chr2_71104687_71135229	71106071	T T	TACACACA others(13): Show TACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00673.hp2 HG02080.hp1 others(7): Show HG00423.hp1 HG00673.hp2 HG02080.hp1 HG02698.hp1 NA18943.hp2 NA18993.hp1 NA18994.hp2 NA18998.hp2 NA19060.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0022 a0002c0002t0001g0041 others(3): Show a0002c0002t0001g0001 a0002c0002t0001g0022 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0136 a0002c0002t0001g0140	10	418	0.0239	20	c.38 others(31): Show c.3898_*3899insGTGTGTGTGTGTGTGTGTGT	MCEE	ENSG00000124370.11	transcript	ENST00000244217.6	protein_coding		3615		chr2	TogoVar
MCEE_chr2_71104687_71135229	71125211	A A	ATATATAT others(13): Show ATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0215 a0003c0003t0001g0215	1	418	0.0024	20	c.41- others(33): Show c.41-669_41-668insAAAAAAAATATATATATATA	MCEE	ENSG00000124370.11	transcript	ENST00000244217.6	protein_coding	1/2			chr2	TogoVar
MCEE_chr2_71104687_71135229	71125211	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	418	0.0024	20	c.41- others(33): Show c.41-669_41-668insAAAAAAAAAATATATATATA	MCEE	ENSG00000124370.11	transcript	ENST00000244217.6	protein_coding	1/2			chr2	TogoVar
MCEE_chr2_71104687_71135229	71125211	A A	ATATATAT others(13): Show ATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0198 a0003c0003t0001g0198	1	418	0.0024	20	c.41- others(33): Show c.41-669_41-668insAAAAAAAAAAAAAATATATA	MCEE	ENSG00000124370.11	transcript	ENST00000244217.6	protein_coding	1/2			chr2	TogoVar

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