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
MED13_chr17_61937605_62070278	62008016	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02723.hp2 HG03579.hp2 HG01891.hp1 HG02723.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0005 a0001c0004 a0002c0005	a0001c0004t0001 a0002c0005t0001 a0001c0004t0001 a0002c0005t0001	a0001c0004t0001g0163 a0001c0004t0001g0164 a0002c0005t0001g0005 a0001c0004t0001g0163 a0001c0004t0001g0164 a0002c0005t0001g0005	3	326	0.0092	18	c.196 others(37): Show c.1967+2516_1967+2533dupTTTTTTTTTTTTTTTTTT	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	9/29			chr17	TogoVar
MED13_chr17_61937605_62070278	62014308	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA19030.hp1 NA20300.hp1 HG02809.hp1 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0107 a0001c0003t0001g0110 a0001c0003t0001g0115 a0001c0003t0001g0107 a0001c0003t0001g0110 a0001c0003t0001g0115	3	326	0.0092	18	c.128 others(37): Show c.1284-3076_1284-3075insTATATATATATATATATA	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	8/29			chr17	TogoVar
MED13_chr17_61937605_62070278	62043156	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0009 a0001c0007t0005g0009	1	326	0.0031	18	c.471 others(35): Show c.471-7566_471-7549dupTTTTTTTTTTTTTTTTTT	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	3/29			chr17	TogoVar
MED13_chr17_61937605_62070278	62048043	C C	CATATACA others(11): Show CATATACATATATATATAT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	326	0.0031	18	c.470 others(35): Show c.470+4493_470+4494insATATATATATATGTATAT	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	3/29			chr17	TogoVar
MED13_chr17_61937605_62070278	62049078	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0074 a0001c0004t0001g0074	1	326	0.0031	18	c.470 others(35): Show c.470+3458_470+3459insTTTTTTTTTTTTTTTTTT	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	3/29			chr17	TogoVar
MED15_chr22_20502610_20592619	20505559	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01258.hp2 NA18948.hp2 HG00741.hp2 HG01258.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0284 a0001c0001t0001g0294 a0001c0002t0002g0194 a0001c0001t0001g0284 a0001c0001t0001g0294 a0001c0002t0002g0194	3	341	0.0088	18	c.-21 others(29): Show c.-2120_-2119insAAAAAAAAAAAAAAAAAA	MED15	ENSG00000099917.17	transcript	ENST00000263205.11	protein_coding		2050		chr22	TogoVar
MED15_chr22_20502610_20592619	20565896	C C	CCCAGGCA others(11): Show CCCAGGCACACACTTGGTG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02970.hp1 HG01346.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0005g0292 a0001c0001t0005g0293	2	341	0.0059	18	c.691 others(33): Show c.691-568_691-551dupAGGCACACACTTGGTGCC	MED15	ENSG00000099917.17	transcript	ENST00000263205.11	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr22	TogoVar
MED16_chr19_862963_898187	864042	C C	CCACACAC others(11): Show CCACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG02735.hp1 HG02809.hp2 others(3): Show HG01978.hp1 HG02735.hp1 HG02809.hp2 HG03453.hp1 HG03453.hp2 NA19007.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0020 a0005c0011 a0006c0009	a0001c0001t0009 a0001c0002t0001 a0002c0003t0001 others(3): Show a0001c0001t0009 a0001c0002t0001 a0002c0003t0001 a0002c0020t0001 a0005c0011t0001 a0006c0009t0007	a0001c0001t0009g0056 a0001c0002t0001g0026 a0002c0003t0001g0008 others(3): Show a0001c0001t0009g0056 a0001c0002t0001g0026 a0002c0003t0001g0008 a0002c0020t0001g0009 a0005c0011t0001g0048 a0006c0009t0007g0027	6	56	0.1071	18	c.40 others(29): Show c.4041_*4058dupTGTGTGTGTGTGTGTGTG	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding		3920		chr19	TogoVar
MED16_chr19_862963_898187	873037	G G	GGGGGAGG others(11): Show GGGGGAGGGCTCCGAGGGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0001 a0002c0023t0001	a0002c0023t0001g0006 a0002c0023t0001g0006	1	56	0.0179	18	c.190 others(35): Show c.1905+411_1905+412insTCCCTCGGAGCCCTCCCC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15			chr19	TogoVar
MED16_chr19_862963_898187	873111	G G	GGCAGGGC others(11): Show GGCAGGGCTCCGAGGTGGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0001 a0007c0019t0001	a0007c0019t0001g0017 a0007c0019t0001g0017	1	56	0.0179	18	c.190 others(35): Show c.1905+337_1905+338insTCCACCTCGGAGCCCTGC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15			chr19	TogoVar
MED16_chr19_862963_898187	873131	C C	CAGGGCTC others(11): Show CAGGGCTCCGAGGTGGGGG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0016 a0001c0004t0001g0016	1	56	0.0179	18	c.190 others(35): Show c.1905+317_1905+318insCCCCCACCTCGGAGCCCT	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15			chr19	TogoVar
MED16_chr19_862963_898187	876897	G G	GCCCCCAC others(11): Show GCCCCCACCTGCCACGGGG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	56	0.0179	18	c.156 others(33): Show c.1560+76_1560+77insCCCCGTGGCAGGTGGGGG	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	9/15			chr19	TogoVar
MED16_chr19_862963_898187	876911	G G	GGGGCCCC others(11): Show GGGGCCCCCACCTGCCACA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02818.hp1 HG02809.hp1 HG02818.hp1	a0002 a0008 a0002 a0008	a0002c0007 a0008c0018 a0002c0007 a0008c0018	a0002c0007t0001 a0008c0018t0006 a0002c0007t0001 a0008c0018t0006	a0002c0007t0001g0015 a0008c0018t0006g0014 a0002c0007t0001g0015 a0008c0018t0006g0014	2	56	0.0357	18	c.156 others(33): Show c.1560+45_1560+62dupTGTGGCAGGTGGGGGCCC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	9/15			chr19	TogoVar
MED17_chr11_93779282_93819963	93793114	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG01081.hp1 others(31): Show HG00438.hp2 HG00673.hp1 HG01081.hp1 HG01934.hp1 HG02004.hp1 HG02015.hp1 HG02083.hp2 HG02735.hp1 HG03453.hp2 HG03710.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18944.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18966.hp2 NA18975.hp1 NA18982.hp1 NA18994.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19009.hp2 NA19060.hp1 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0018 a0002c0002 others(1): Show a0001c0001 a0001c0018 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0020 a0001c0018t0001 others(2): Show a0001c0001t0001 a0001c0001t0020 a0001c0018t0001 a0002c0002t0001 a0002c0004t0003	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0057 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0020g0120 a0001c0018t0001g0001 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0004t0003g0179 a0002c0004t0003g0180	34	320	0.1063	18	c.638 others(33): Show c.638-610_638-593dupTTTTTTTTTTTTTTTTTT	MED17	ENSG00000042429.12	transcript	ENST00000251871.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
MED19_chr11_57698710_57717215	57702423	A A	AATATATA others(11): Show AATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	380	0.0026	18	c.16 others(29): Show c.1614_*1615insATATATATATATATATAT	MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding		1286		chr11	TogoVar
MED19_chr11_57698710_57717215	57702429	A A	AATATATA others(11): Show AATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	380	0.0026	18	c.16 others(29): Show c.1608_*1609insATATATATATATATATAT	MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding		1280		chr11	TogoVar
MED19_chr11_57698710_57717215	57702433	A A	AATATATA others(11): Show AATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	380	0.0026	18	c.16 others(29): Show c.1604_*1605insATATATATATATATATAT	MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding		1276		chr11	TogoVar
MED19_chr11_57698710_57717215	57702437	A A	AATATATA others(11): Show AATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02896.hp1 HG02897.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0019 a0001c0001t0001g0026	3	380	0.0079	18	c.16 others(29): Show c.1600_*1601insATATATATATATATATAT	MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding		1272		chr11	TogoVar
MED1_chr17_39399285_39456263	39433527	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	280	0.0036	18	c.500 others(33): Show c.500+704_500+721dupTATATATATATATATATA	MED1	ENSG00000125686.12	transcript	ENST00000300651.11	protein_coding	7/16			chr17	TogoVar
MED20_chr6_41900354_41926139	41915787	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	444	0.0023	18	c.169 others(33): Show c.169+997_169+998insGTGTGTGTGTGTGTGTGT	MED20	ENSG00000124641.16	transcript	ENST00000265350.9	protein_coding	2/3			chr6	TogoVar
MED20_chr6_41900354_41926139	41915789	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01099.hp1 HG01106.hp2 others(31): Show HG01069.hp2 HG01099.hp1 HG01106.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp2 HG01884.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02109.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02630.hp1 HG02647.hp1 HG02895.hp1 HG02965.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA19043.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0015 a0001c0002t0001 a0001c0001t0001 a0001c0001t0015 a0001c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0056 others(14): Show a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0125 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0015g0162 a0001c0002t0001g0168	34	444	0.0766	18	c.169 others(33): Show c.169+995_169+996insGTGTGTGTGTGTGTGTGT	MED20	ENSG00000124641.16	transcript	ENST00000265350.9	protein_coding	2/3			chr6	TogoVar
MED23_chr6_131581732_131633242	131598090	A A	AAAAAACA others(11): Show AAAAAACAAACAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02258.hp2 others(3): Show HG01891.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02976.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 others(3): Show a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215	6	320	0.0188	18	c.260 others(35): Show c.2607+179_2607+196dupGTTTTTTTGTTTGTTTTT	MED23	ENSG00000112282.18	transcript	ENST00000368068.8	protein_coding	20/28			chr6	TogoVar
MED23_chr6_131581732_131633242	131615503	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	3	320	0.0094	18	c.876 others(33): Show c.876+386_876+403dupTTTTTTTTTTTTTTTTTT	MED23	ENSG00000112282.18	transcript	ENST00000368068.8	protein_coding	10/28			chr6	TogoVar
MED24_chr17_40014104_40059408	40043890	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01106.hp1 HG02572.hp1 others(15): Show HG00597.hp2 HG01106.hp1 HG02572.hp1 HG02622.hp2 HG03516.hp2 HG03654.hp2 HG03831.hp2 HG04184.hp1 NA18940.hp1 NA18943.hp2 NA18944.hp2 NA18956.hp1 NA18965.hp2 NA18966.hp2 NA18973.hp1 NA18991.hp1 NA19082.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0002 a0001c0002t0001 a0001c0012t0002 a0001c0001t0002 a0001c0002t0001 a0001c0012t0002	a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0062 others(12): Show a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0062 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0311 a0001c0002t0001g0082 a0001c0012t0002g0079	18	398	0.0452	18	c.214 others(35): Show c.214-7737_214-7736insTTTTTTTTTTTTTTTTTT	MED24	ENSG00000008838.21	transcript	ENST00000394128.7	protein_coding	3/25			chr17	TogoVar
MED24_chr17_40014104_40059408	40043902	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18999.hp2 NA18967.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0089 a0001c0001t0002g0058 a0001c0001t0002g0089	2	398	0.0050	18	c.214 others(35): Show c.214-7749_214-7748insGTTTTTTTTTTTTTTTTT	MED24	ENSG00000008838.21	transcript	ENST00000394128.7	protein_coding	3/25			chr17	TogoVar
MED25_chr19_49813289_49841979	49815352	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 NA18943.hp2 HG01074.hp2 NA18943.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0157 a0001c0003t0001g0164 a0001c0003t0001g0157 a0001c0003t0001g0164	2	406	0.0049	18	c.-29 others(29): Show c.-2990_-2989insAAAAAAAAAAAAAAAAAA	MED25	ENSG00000104973.19	transcript	ENST00000312865.10	protein_coding		2936		chr19	TogoVar
MED27_chr9_131855112_132084867	131930032	C C	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	274	0.0037	18	c.573 others(35): Show c.573+9348_573+9349insCTCTCTCTCTCTCTCTCT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	4/7			chr9	TogoVar
MED28_chr4_17609641_17639105	17613882	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0005 a0001c0001t0100g0005	1	328	0.0031	18	c.-77 others(27): Show c.-773_-772insAAAAAAAAAAAAAAAAAA	MED28	ENSG00000118579.13	transcript	ENST00000237380.12	protein_coding		758		chr4	TogoVar
MED29_chr19_39386378_39405641	39393081	C C	CTTTTTCT others(11): Show CTTTTTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0061 a0001c0001t0038g0061	1	388	0.0026	18	c.276 others(33): Show c.276-467_276-466insCTTTTTTTTTTTTTTTTT	MED29	ENSG00000063322.15	transcript	ENST00000315588.11	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
MED30_chr8_117515713_117545262	117540699	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01952.hp2 HG00639.hp1 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0031 a0001c0001t0005g0136 a0001c0001t0001g0031 a0001c0001t0005g0136	2	348	0.0058	18	c.72 others(27): Show c.721_*722insTTTTTTTTTTTTTTTTTT	MED30	ENSG00000164758.7	transcript	ENST00000297347.7	protein_coding		438		chr8	TogoVar
MED31_chr17_6638311_6656605	6651120	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	428	0.0023	18	c.28+ others(31): Show c.28+380_28+381insTTTTTTTTTTTTTTTTTT	MED31	ENSG00000108590.11	transcript	ENST00000225728.8	protein_coding	1/3			chr17	TogoVar
MED7_chr5_157132424_157147865	157136563	C C	CACATATA others(11): Show CACATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp2 NA18985.hp2 HG03704.hp1 HG03704.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0002 a0001c0001t0002g0005	3	386	0.0078	18	c.21 others(29): Show c.2166_*2167insATATATATATATATATGT	MED7	ENSG00000155868.8	transcript	ENST00000286317.6	protein_coding		860		chr5	TogoVar
MED8_chr1_43378917_43394800	43392083	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	18	c.-23 others(29): Show c.-2337_-2320dupTTTTTTTTTTTTTTTTTT	MED8	ENSG00000159479.17	transcript	ENST00000372457.9	protein_coding		2284		chr1	TogoVar
MED9_chr17_17472000_17498221	17494413	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	404	0.0025	18	c.29 others(29): Show c.2918_*2919insAAAAAAAAAAAAAAAAAA	MED9	ENSG00000141026.6	transcript	ENST00000268711.4	protein_coding		1193		chr17	TogoVar
MEDAG_chr13_30901271_30930572	30910193	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03704.hp1 NA18972.hp1 HG00621.hp1 HG03704.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0148 a0001c0001t0002g0047 a0001c0001t0002g0148	3	452	0.0066	18	c.278 others(35): Show c.278+3408_278+3425dupCACACACACACACACACA	MEDAG	ENSG00000102802.10	transcript	ENST00000380482.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr13	TogoVar
MEF2A_chr15_99560984_99721488	99602653	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0116 a0003c0003t0116	a0003c0003t0116g0136 a0003c0003t0116g0136	1	376	0.0027	18	c.-14 others(37): Show c.-143+4171_-143+4188dupGTGTGTGTGTGTGTGTGT	MEF2A	ENSG00000068305.19	transcript	ENST00000557942.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
MEF2A_chr15_99560984_99721488	99603543	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00673.hp1 others(20): Show HG00438.hp2 HG00621.hp1 HG00673.hp1 HG01175.hp2 HG01192.hp1 HG01993.hp1 HG02523.hp2 HG02809.hp1 NA18940.hp1 NA18945.hp2 NA18962.hp2 NA18968.hp2 NA18980.hp1 NA18984.hp2 NA18991.hp2 NA18999.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19068.hp2 NA19076.hp1 NA19077.hp2 NA19081.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0010 a0018	a0001c0001 a0001c0004 a0001c0007 others(8): Show a0001c0001 a0001c0004 a0001c0007 a0001c0017 a0001c0028 a0002c0002 a0002c0014 a0003c0003 a0003c0031 a0010c0020 a0018c0025	a0001c0001t0001 a0001c0001t0011 a0001c0001t0041 others(18): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0041 a0001c0001t0044 a0001c0001t0102 a0001c0004t0117 a0001c0007t0001 a0001c0017t0001 a0001c0017t0043 a0001c0028t0095 a0002c0002t0034 a0002c0002t0079 a0002c0014t0007 a0003c0003t0002 a0003c0003t0016 a0003c0003t0052 a0003c0003t0108 a0003c0003t0133 a0003c0031t0070 a0010c0020t0001 a0018c0025t0001	a0001c0001t0001g0178 a0001c0001t0001g0245 a0001c0001t0011g0281 others(20): Show a0001c0001t0001g0178 a0001c0001t0001g0245 a0001c0001t0011g0281 a0001c0001t0041g0186 a0001c0001t0044g0240 a0001c0001t0102g0163 a0001c0004t0117g0311 a0001c0007t0001g0168 a0001c0017t0001g0123 a0001c0017t0043g0125 a0001c0028t0095g0203 a0002c0002t0034g0251 a0002c0002t0079g0201 a0002c0014t0007g0340 a0002c0014t0007g0341 a0003c0003t0002g0358 a0003c0003t0016g0333 a0003c0003t0052g0297 a0003c0003t0108g0298 a0003c0003t0133g0330 a0003c0031t0070g0204 a0010c0020t0001g0177 a0018c0025t0001g0173	23	376	0.0612	18	c.-14 others(37): Show c.-143+5050_-143+5067dupGTGTGTGTGTGTGTGTGT	MEF2A	ENSG00000068305.19	transcript	ENST00000557942.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
MEF2A_chr15_99560984_99721488	99695541	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00639.hp2 others(9): Show HG00423.hp1 HG00597.hp1 HG00639.hp2 HG02698.hp2 NA18963.hp1 NA18969.hp2 NA18970.hp2 NA19001.hp1 NA19010.hp2 NA19057.hp2 NA19058.hp2 NA20805.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0012	a0001c0001 a0001c0007 a0002c0011 others(2): Show a0001c0001 a0001c0007 a0002c0011 a0006c0015 a0012c0033	a0001c0001t0001 a0001c0001t0004 a0001c0001t0039 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0039 a0001c0001t0089 a0001c0007t0100 a0002c0011t0090 a0006c0015t0004 a0012c0033t0094	a0001c0001t0001g0222 a0001c0001t0001g0249 a0001c0001t0004g0035 others(9): Show a0001c0001t0001g0222 a0001c0001t0001g0249 a0001c0001t0004g0035 a0001c0001t0004g0266 a0001c0001t0004g0275 a0001c0001t0039g0265 a0001c0001t0039g0268 a0001c0001t0089g0273 a0001c0007t0100g0044 a0002c0011t0090g0156 a0006c0015t0004g0269 a0012c0033t0094g0267	12	376	0.0319	18	c.858 others(35): Show c.858+5125_858+5142dupGTGTGTGTGTGTGTGTGT	MEF2A	ENSG00000068305.19	transcript	ENST00000557942.6	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
MEF2B_chr19_19140567_19175263	19174385	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02486.hp2 HG02895.hp2 others(2): Show HG01884.hp1 HG02486.hp2 HG02895.hp2 HG02922.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0133 a0001c0001t0001g0135 others(2): Show a0001c0001t0001g0085 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0323	5	404	0.0124	18	c.-42 others(29): Show c.-4228_-4211dupAAAAAAAAAAAAAAAAAA	MEF2B	ENSG00000213999.17	transcript	ENST00000424583.7	protein_coding		4123		chr19	TogoVar
MEF2C_chr5_88712117_88888184	88869280	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	302	0.0033	18	c.-14 others(39): Show c.-143+13674_-143+13675insGTATATATATATATATAT	MEF2C	ENSG00000081189.17	transcript	ENST00000504921.7	protein_coding	1/10			chr5	TogoVar
MEF2D_chr1_156458727_156505775	156478755	C C	CCCGACCT others(11): Show CCCGACCTCAGGTGATCCG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp2 HG01884.hp2 others(14): Show HG00735.hp2 HG01175.hp2 HG01884.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp1 HG03579.hp2 NA19030.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0001c0003 a0003c0004	a0001c0003t0006 a0001c0003t0007 a0001c0003t0040 others(1): Show a0001c0003t0006 a0001c0003t0007 a0001c0003t0040 a0003c0004t0007	a0001c0003t0006g0008 a0001c0003t0006g0041 a0001c0003t0006g0074 others(10): Show a0001c0003t0006g0008 a0001c0003t0006g0041 a0001c0003t0006g0074 a0001c0003t0006g0075 a0001c0003t0006g0076 a0001c0003t0006g0087 a0001c0003t0007g0009 a0001c0003t0007g0078 a0001c0003t0007g0082 a0001c0003t0007g0083 a0001c0003t0007g0086 a0001c0003t0040g0077 a0003c0004t0007g0073	17	282	0.0603	18	c.664 others(33): Show c.664+517_664+534dupCGGATCACCTGAGGTCGG	MEF2D	ENSG00000116604.19	transcript	ENST00000348159.9	protein_coding	6/11			chr1	TogoVar
MEGF10_chr5_127285796_127466222	127294835	T T	TAATAATA others(11): Show TAATAATAATAATAATAAA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0128 a0001c0002t0002g0128	1	268	0.0037	18	c.-19 others(35): Show c.-19+3781_-19+3782insTAATAATAATAATAAAAA	MEGF10	ENSG00000145794.17	transcript	ENST00000503335.7	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
MEGF10_chr5_127285796_127466222	127309994	T T	TTTCTTCT others(11): Show TTTCTTCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0053 a0001c0002t0002g0053	1	268	0.0037	18	c.-19 others(37): Show c.-19+18941_-19+18942insTTCTTCCTTCCTTCCTTC	MEGF10	ENSG00000145794.17	transcript	ENST00000503335.7	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
MEGF10_chr5_127285796_127466222	127310016	T T	TCCTTCCT others(11): Show TCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0002 a0001c0036t0002	a0001c0036t0002g0051 a0001c0036t0002g0051	1	268	0.0037	18	c.-19 others(37): Show c.-19+18960_-19+18961insCCTTCCTTCCTTCCTTCC	MEGF10	ENSG00000145794.17	transcript	ENST00000503335.7	protein_coding	1/24			chr5	TogoVar
MEGF11_chr15_65890299_66258750	65955793	T T	TATATACA others(11): Show TATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0126 a0002c0012t0001g0126	1	176	0.0057	18	c.128 others(37): Show c.1287+1753_1287+1754insGTGTGTGTGTGTGTATAT	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	10/25			chr15	TogoVar
MEGF11_chr15_65890299_66258750	65955793	T T	TATATATA others(11): Show TATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp1 HG01243.hp1 others(7): Show HG00738.hp2 HG01192.hp1 HG01243.hp1 HG02523.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG04204.hp2 NA18747.hp2 NA20752.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0007 a0001c0001 a0002c0002 a0006c0007	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0006c0007t0002	a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0050 others(7): Show a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0050 a0002c0002t0001g0037 a0002c0002t0001g0067 a0002c0002t0001g0106 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0006g0066 a0006c0007t0002g0170	10	176	0.0568	18	c.128 others(37): Show c.1287+1753_1287+1754insGTGTGTGTATATATATAT	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	10/25			chr15	TogoVar
MEGF11_chr15_65890299_66258750	65955793	T T	TATATATA others(11): Show TATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	176	0.0057	18	c.128 others(37): Show c.1287+1753_1287+1754insGTGTGTATATATATATAT	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	10/25			chr15	TogoVar
MEGF11_chr15_65890299_66258750	65955793	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02132.hp2 HG00099.hp1 HG02132.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0107 a0002c0002t0002g0166 a0001c0001t0001g0107 a0002c0002t0002g0166	2	176	0.0114	18	c.128 others(37): Show c.1287+1753_1287+1754insGTGTATATATATATATAT	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	10/25			chr15	TogoVar
MEGF11_chr15_65890299_66258750	65955823	A A	AATATATA others(11): Show AATATATATAAATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03225.hp2 HG03516.hp1 HG02896.hp1 HG03225.hp2 HG03516.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0014 a0001c0001 a0002c0002 a0010c0014	a0001c0001t0001 a0002c0002t0001 a0010c0014t0013 a0001c0001t0001 a0002c0002t0001 a0010c0014t0013	a0001c0001t0001g0001 a0002c0002t0001g0028 a0010c0014t0013g0029 a0001c0001t0001g0001 a0002c0002t0001g0028 a0010c0014t0013g0029	3	176	0.0171	18	c.128 others(37): Show c.1287+1723_1287+1724insATATATATTTATATATAT	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	10/25			chr15	TogoVar
MEGF11_chr15_65890299_66258750	66011720	C C	CTATTATT others(11): Show CTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0023	1	176	0.0057	18	c.395 others(37): Show c.395-29250_395-29233dupATAATAATAATAATAATA	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	5/25			chr15	TogoVar

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