Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MDN1_chr6_89637498_89824794	89803890	C C	CTTTCTTT CTTTCTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01175.hp2 HG01978.hp2 others(3): Show HG00741.hp2 HG01175.hp2 HG01978.hp2 HG03710.hp1 HG04115.hp2 NA18984.hp2	a0001 a0007 a0015 a0001 a0007 a0015	a0001c0001 a0007c0006 a0015c0020 a0001c0001 a0007c0006 a0015c0020	a0001c0001t0001 a0007c0006t0001 a0015c0020t0001 a0001c0001t0001 a0007c0006t0001 a0015c0020t0001	a0001c0001t0001g0271 a0007c0006t0001g0163 a0007c0006t0001g0249 others(3): Show a0001c0001t0001g0271 a0007c0006t0001g0163 a0007c0006t0001g0249 a0007c0006t0001g0254 a0007c0006t0001g0255 a0015c0020t0001g0164	6	290	0.0207	7	c.103 others(22): Show c.103-337_103-336insAAAGAAA		MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	1/101						chr6	TogoVar
MDN1_chr6_89637498_89824794	89810017	A A	ATAAAAAT ATAAAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00735.hp2 others(16): Show HG00140.hp2 HG00323.hp2 HG00735.hp2 HG00738.hp2 HG01258.hp2 HG01433.hp1 HG01496.hp2 HG01943.hp2 HG02293.hp1 HG03017.hp1 HG03654.hp2 HG03669.hp2 HG03834.hp1 HG04204.hp2 HG04228.hp2 NA19004.hp1 NA19012.hp1 NA19074.hp1 NA19091.hp1	a0005 a0043 a0005 a0043	a0005c0005 a0005c0022 a0005c0067 others(1): Show a0005c0005 a0005c0022 a0005c0067 a0043c0066	a0005c0005t0003 a0005c0005t0010 a0005c0022t0003 others(2): Show a0005c0005t0003 a0005c0005t0010 a0005c0022t0003 a0005c0067t0003 a0043c0066t0003	a0005c0005t0003g0005 a0005c0005t0003g0006 a0005c0005t0003g0007 others(16): Show a0005c0005t0003g0005 a0005c0005t0003g0006 a0005c0005t0003g0007 a0005c0005t0003g0008 a0005c0005t0003g0009 a0005c0005t0003g0010 a0005c0005t0003g0011 a0005c0005t0003g0012 a0005c0005t0003g0013 a0005c0005t0003g0014 a0005c0005t0003g0019 a0005c0005t0003g0020 a0005c0005t0003g0021 a0005c0005t0003g0022 a0005c0005t0010g0016 a0005c0022t0003g0017 a0005c0022t0003g0018 a0005c0067t0003g0004 a0043c0066t0003g0015	19	290	0.0655	7	c.103 others(24): Show c.103-6464_103-6463insATTTTTA		MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	1/101						chr6	TogoVar
MDP1_chr14_24208943_24221066	24209812	A A	AGCACTTG AGCACTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02615.hp2 HG02647.hp1 others(4): Show HG01891.hp1 HG02615.hp2 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG03209.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0014 a0002c0002t0001g0006 a0002c0002t0001g0014	7	404	0.0173	7	c.42 others(18): Show c.4205_*4211dupCAAGTGC		MDP1	ENSG00000213920.9	transcript	ENST00000288087.12	protein_coding					4130		chr14	TogoVar
ME2_chr18_50874118_50959257	50941353	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02630.hp2 HG03195.hp1 others(4): Show HG00621.hp2 HG02630.hp2 HG03195.hp1 HG03704.hp1 NA19007.hp2 NA19065.hp1 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0036 a0001c0001t0108 a0002c0002t0100 others(4): Show a0001c0001t0036 a0001c0001t0108 a0002c0002t0100 a0002c0002t0102 a0002c0002t0116 a0002c0002t0117 a0002c0002t0121	a0001c0001t0036g0201 a0001c0001t0108g0203 a0002c0002t0100g0166 others(4): Show a0001c0001t0036g0201 a0001c0001t0108g0203 a0002c0002t0100g0166 a0002c0002t0102g0122 a0002c0002t0116g0128 a0002c0002t0117g0152 a0002c0002t0121g0150	7	342	0.0205	7	c.158 others(24): Show c.1587+992_1587+998dupTTTTTTT		ME2	ENSG00000082212.13	transcript	ENST00000321341.11	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr18	TogoVar
ME2_chr18_50874118_50959257	50959188	T T	TCCCTCCC TCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG02559.hp2 NA19080.hp1 others(1): Show HG01943.hp2 HG02559.hp2 NA19080.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0001c0001t0065 a0001c0001t0082 others(1): Show a0001c0001t0010 a0001c0001t0065 a0001c0001t0082 a0002c0002t0157	a0001c0001t0010g0043 a0001c0001t0065g0095 a0001c0001t0082g0091 others(1): Show a0001c0001t0010g0043 a0001c0001t0065g0095 a0001c0001t0082g0091 a0002c0002t0157g0178	4	342	0.0117	7	c.12 others(20): Show c.12004_*12005insCCCTCCC		ME2	ENSG00000082212.13	transcript	ENST00000321341.11	protein_coding					4932		chr18	TogoVar
ME3_chr11_86436108_86677616	86521425	A A	AAAATAAT AAAATAAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG04228.hp2 HG02486.hp1 HG02615.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0094 a0001c0001t0001g0124 a0001c0001t0002g0221 a0001c0001t0001g0094 a0001c0001t0001g0124 a0001c0001t0002g0221	3	320	0.0094	7	c.468 others(26): Show c.468-12559_468-12558insATTATTT		ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	4/14						chr11	TogoVar
ME3_chr11_86436108_86677616	86617045	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp2 HG01109.hp2 others(7): Show HG00735.hp2 HG00738.hp2 HG01109.hp2 HG01123.hp1 HG01346.hp2 HG01952.hp2 HG02056.hp2 HG02145.hp1 HG02683.hp1 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0002c0003 a0002c0004 others(1): Show a0001c0012 a0002c0003 a0002c0004 a0002c0005	a0001c0012t0001 a0002c0003t0001 a0002c0004t0001 others(2): Show a0001c0012t0001 a0002c0003t0001 a0002c0004t0001 a0002c0004t0003 a0002c0005t0001	a0001c0012t0001g0068 a0001c0012t0001g0104 a0002c0003t0001g0001 others(6): Show a0001c0012t0001g0068 a0001c0012t0001g0104 a0002c0003t0001g0001 a0002c0003t0001g0063 a0002c0003t0001g0098 a0002c0003t0001g0103 a0002c0004t0001g0058 a0002c0004t0003g0188 a0002c0005t0001g0062	10	320	0.0313	7	c.183 others(26): Show c.183+54710_183+54716dupAAAAAAA		ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14						chr11	TogoVar
ME3_chr11_86436108_86677616	86618299	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00639.hp1 others(16): Show HG00323.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp2 HG01069.hp2 HG01346.hp2 HG02615.hp1 HG02683.hp1 HG02698.hp2 HG03209.hp2 HG03239.hp1 HG03471.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp1 NA18984.hp2 NA19062.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0012 a0002c0003 others(3): Show a0001c0001 a0001c0012 a0002c0003 a0002c0004 a0002c0008 a0003c0011	a0001c0001t0001 a0001c0012t0001 a0002c0003t0001 others(4): Show a0001c0001t0001 a0001c0012t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0008t0001 a0003c0011t0001	a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0096 others(16): Show a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0012t0001g0068 a0001c0012t0001g0071 a0001c0012t0001g0104 a0002c0003t0001g0066 a0002c0003t0001g0079 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0087 a0002c0003t0001g0103 a0002c0003t0002g0318 a0002c0004t0001g0058 a0002c0008t0001g0095 a0002c0008t0001g0100 a0002c0008t0001g0101 a0003c0011t0001g0076 a0003c0011t0001g0077	19	320	0.0594	7	c.183 others(26): Show c.183+53456_183+53462dupTTTTTTT		ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14						chr11	TogoVar
MECOM_chr3_169078507_169668712	169341739	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp2 NA18960.hp1 others(2): Show HG02559.hp2 HG03098.hp2 NA18960.hp1 NA19007.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0001c0001t0010 a0001c0001t0040 others(2): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0040 a0002c0002t0004 a0002c0002t0047	a0001c0001t0009g0141 a0001c0001t0010g0079 a0001c0001t0040g0105 others(2): Show a0001c0001t0009g0141 a0001c0001t0010g0079 a0001c0001t0040g0105 a0002c0002t0004g0071 a0002c0002t0047g0153	5	160	0.0313	7	c.375 others(26): Show c.375+39441_375+39447dupTTTTTTT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169485877	A A	ATATATAG ATATATAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02015.hp2 HG02132.hp2 others(22): Show HG00438.hp2 HG02015.hp2 HG02132.hp2 HG02559.hp2 HG02615.hp1 HG02723.hp1 HG02809.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03540.hp1 HG03579.hp2 NA18522.hp1 NA18951.hp1 NA18960.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18975.hp1 NA19007.hp2 NA19011.hp2 NA19066.hp2 NA19070.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0008 others(2): Show a0001c0001 a0001c0006 a0001c0008 a0002c0002 a0002c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0001t0045 a0001c0001t0049 a0001c0006t0050 a0001c0008t0009 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0035 a0002c0002t0042 a0002c0002t0047 a0002c0011t0011	a0001c0001t0002g0076 a0001c0001t0003g0031 a0001c0001t0004g0073 others(22): Show a0001c0001t0002g0076 a0001c0001t0003g0031 a0001c0001t0004g0073 a0001c0001t0005g0094 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0006g0116 a0001c0001t0006g0118 a0001c0001t0010g0079 a0001c0001t0012g0028 a0001c0001t0014g0148 a0001c0001t0020g0128 a0001c0001t0045g0142 a0001c0001t0049g0155 a0001c0006t0050g0157 a0001c0008t0009g0143 a0002c0002t0002g0087 a0002c0002t0003g0041 a0002c0002t0004g0065 a0002c0002t0004g0068 a0002c0002t0005g0095 a0002c0002t0035g0026 a0002c0002t0042g0117 a0002c0002t0047g0153 a0002c0011t0011g0021	25	160	0.1563	7	c.38- others(26): Show c.38-104354_38-104353insCTATATA		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169485884	T T	TATATATA TATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01516.hp1 HG03017.hp1 others(1): Show HG01255.hp1 HG01516.hp1 HG03017.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0020 a0001c0001t0021 others(1): Show a0001c0001t0011 a0001c0001t0020 a0001c0001t0021 a0001c0001t0036	a0001c0001t0011g0024 a0001c0001t0020g0129 a0001c0001t0021g0152 others(1): Show a0001c0001t0011g0024 a0001c0001t0020g0129 a0001c0001t0021g0152 a0001c0001t0036g0025	4	160	0.0250	7	c.38- others(26): Show c.38-104361_38-104360insTATATAT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169485944	T T	TATATATA TATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00544.hp1 others(76): Show HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00738.hp1 HG01081.hp2 HG01099.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG02015.hp2 HG02056.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03492.hp2 HG03516.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18975.hp1 NA18975.hp2 NA18988.hp1 NA19002.hp1 NA19002.hp2 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19060.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0004 others(10): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0012 a0002c0002 a0002c0010 a0002c0011 a0003c0005 a0004c0013 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0001t0049 a0001c0001t0051 a0001c0003t0044 a0001c0003t0048 a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0001c0004t0008 a0001c0004t0009 a0001c0006t0003 a0001c0007t0001 a0001c0009t0007 a0001c0012t0007 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0013 a0002c0002t0018 a0002c0002t0027 a0002c0002t0035 a0002c0002t0039 a0002c0002t0042 a0002c0002t0043 a0002c0002t0047 a0002c0002t0053 a0002c0010t0002 a0002c0010t0014 a0002c0011t0011 a0003c0005t0018 a0003c0005t0041 a0004c0013t0002 a0005c0014t0019	a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0058 others(76): Show a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0002g0076 a0001c0001t0002g0084 a0001c0001t0003g0031 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0005g0096 a0001c0001t0005g0099 a0001c0001t0005g0101 a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0006g0118 a0001c0001t0006g0123 a0001c0001t0006g0124 a0001c0001t0006g0125 a0001c0001t0007g0130 a0001c0001t0007g0134 a0001c0001t0007g0137 a0001c0001t0008g0107 a0001c0001t0008g0110 a0001c0001t0008g0111 a0001c0001t0008g0113 a0001c0001t0010g0079 a0001c0001t0010g0080 a0001c0001t0011g0022 a0001c0001t0012g0028 a0001c0001t0012g0029 a0001c0001t0013g0044 a0001c0001t0013g0050 a0001c0001t0014g0146 a0001c0001t0014g0147 a0001c0001t0014g0148 a0001c0001t0015g0014 a0001c0001t0016g0066 a0001c0001t0017g0106 a0001c0001t0019g0013 a0001c0001t0020g0128 a0001c0001t0029g0010 a0001c0001t0033g0018 a0001c0001t0034g0020 a0001c0001t0037g0034 a0001c0001t0049g0155 a0001c0001t0051g0156 a0001c0003t0044g0138 a0001c0003t0048g0154 a0001c0004t0001g0059 a0001c0004t0002g0082 a0001c0004t0002g0088 a0001c0004t0006g0120 a0001c0004t0008g0109 a0001c0004t0009g0144 a0001c0006t0003g0035 a0001c0007t0001g0054 a0001c0009t0007g0132 a0001c0012t0007g0136 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0004g0065 a0002c0002t0004g0068 a0002c0002t0005g0095 a0002c0002t0006g0119 a0002c0002t0013g0047 a0002c0002t0018g0008 a0002c0002t0027g0006 a0002c0002t0035g0026 a0002c0002t0039g0093 a0002c0002t0042g0117 a0002c0002t0043g0126 a0002c0002t0047g0153 a0002c0002t0053g0159 a0002c0010t0002g0089 a0002c0010t0014g0149 a0002c0011t0011g0021 a0003c0005t0018g0009 a0003c0005t0041g0100 a0004c0013t0002g0074 a0005c0014t0019g0012	79	160	0.4938	7	c.38- others(26): Show c.38-104421_38-104420insTATATAT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169504192	T T	TGTGTGTG TGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19070.hp1 HG00544.hp2 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0035 a0001c0001t0001 a0002c0002t0035	a0001c0001t0001g0052 a0002c0002t0035g0026 a0001c0001t0001g0052 a0002c0002t0035g0026	2	160	0.0125	7	c.38- others(26): Show c.38-122669_38-122668insCACACAC		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169631601	T T	TCCCTCCC TCCCTCCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02572.hp2 HG02896.hp2 others(3): Show HG02257.hp1 HG02572.hp2 HG02896.hp2 HG02897.hp1 HG03579.hp2 NA18522.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0008 a0004c0013 a0001c0001 a0001c0008 a0004c0013	a0001c0001t0003 a0001c0001t0008 a0001c0008t0009 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0008t0009 a0004c0013t0002	a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0008g0113 others(3): Show a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0008g0113 a0001c0001t0008g0114 a0001c0008t0009g0143 a0004c0013t0002g0074	6	160	0.0375	7	c.37+ others(24): Show c.37+31728_37+31734dupGGGAGGG		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169649409	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG01243.hp1 others(32): Show HG00408.hp1 HG00408.hp2 HG01243.hp1 HG02109.hp1 HG02257.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03831.hp1 HG04115.hp1 HG06807.hp1 NA18941.hp1 NA18951.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18968.hp2 NA19030.hp1 NA19030.hp2 NA19070.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0002c0002 a0002c0010 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0003t0006 a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0001c0004t0009 a0001c0009t0007 a0002c0002t0005 a0002c0002t0007 a0002c0002t0053 a0002c0010t0014 a0005c0014t0019	a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0002g0083 others(32): Show a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0003g0037 a0001c0001t0004g0070 a0001c0001t0004g0072 a0001c0001t0005g0096 a0001c0001t0005g0104 a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0006g0124 a0001c0001t0006g0125 a0001c0001t0007g0134 a0001c0001t0007g0135 a0001c0001t0008g0111 a0001c0001t0009g0145 a0001c0001t0010g0077 a0001c0001t0011g0022 a0001c0001t0014g0147 a0001c0001t0016g0069 a0001c0001t0017g0106 a0001c0001t0017g0112 a0001c0003t0006g0122 a0001c0004t0001g0059 a0001c0004t0002g0082 a0001c0004t0006g0120 a0001c0004t0009g0144 a0001c0009t0007g0132 a0001c0009t0007g0133 a0002c0002t0005g0095 a0002c0002t0007g0131 a0002c0002t0053g0159 a0002c0010t0014g0149 a0005c0014t0019g0012	35	160	0.2188	7	c.37+ others(24): Show c.37+13920_37+13926dupTTTTTTT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16						chr3	TogoVar
MECP2_chrX_154016573_154102717	154050953	G G	GAGCAAGA GAGCAAGA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA19000.hp1 NA19006.hp1 NA18964.hp1 NA19000.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0085 a0001c0001t0002g0191 a0001c0001t0002g0057 a0001c0001t0002g0085 a0001c0001t0002g0191	3	230	0.0130	7	c.27- others(24): Show c.27-18397_27-18396insTCTTGCT		MECP2	ENSG00000169057.25	transcript	ENST00000303391.11	protein_coding	2/3						chrX	TogoVar
MED12L_chr3_151080664_151441653	151206642	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(162): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00741.hp2 HG01069.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18994.hp1 NA19002.hp1 NA19002.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19066.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0010	a0001c0001 a0001c0002 a0001c0004 others(26): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0018 a0001c0020 a0001c0022 a0001c0023 a0001c0027 a0001c0031 a0001c0032 a0001c0034 a0001c0036 a0001c0041 a0002c0003 a0002c0021 a0002c0026 a0004c0016 a0004c0042 a0005c0037 a0010c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(82): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0023 a0001c0001t0036 a0001c0001t0040 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0013 a0001c0002t0014 a0001c0002t0016 a0001c0002t0017 a0001c0002t0026 a0001c0002t0027 a0001c0002t0029 a0001c0002t0030 a0001c0002t0053 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0001c0004t0023 a0001c0004t0055 a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 a0001c0007t0009 a0001c0007t0015 a0001c0008t0001 a0001c0008t0002 a0001c0008t0013 a0001c0008t0017 a0001c0008t0028 a0001c0008t0045 a0001c0009t0012 a0001c0010t0001 a0001c0010t0002 a0001c0010t0005 a0001c0010t0038 a0001c0010t0044 a0001c0011t0001 a0001c0011t0002 a0001c0012t0001 a0001c0012t0010 a0001c0013t0002 a0001c0013t0009 a0001c0013t0010 a0001c0013t0024 a0001c0013t0050 a0001c0015t0002 a0001c0015t0009 a0001c0018t0002 a0001c0020t0001 a0001c0020t0033 a0001c0022t0003 a0001c0022t0019 a0001c0023t0002 a0001c0027t0001 a0001c0031t0001 a0001c0032t0031 a0001c0034t0018 a0001c0036t0001 a0001c0041t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0006 a0002c0003t0014 a0002c0003t0041 a0002c0003t0046 a0002c0021t0001 a0002c0026t0020 a0004c0016t0001 a0004c0042t0039 a0005c0037t0001 a0010c0035t0001	a0001c0001t0001g0111 a0001c0001t0001g0209 a0001c0001t0002g0052 others(162): Show a0001c0001t0001g0111 a0001c0001t0001g0209 a0001c0001t0002g0052 a0001c0001t0002g0087 a0001c0001t0002g0126 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0002g0212 a0001c0001t0002g0230 a0001c0001t0002g0241 a0001c0001t0003g0012 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0142 a0001c0001t0003g0205 a0001c0001t0003g0210 a0001c0001t0003g0215 a0001c0001t0003g0218 a0001c0001t0003g0223 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0240 a0001c0001t0003g0251 a0001c0001t0003g0276 a0001c0001t0004g0217 a0001c0001t0008g0084 a0001c0001t0008g0229 a0001c0001t0008g0246 a0001c0001t0008g0247 a0001c0001t0008g0265 a0001c0001t0008g0272 a0001c0001t0008g0274 a0001c0001t0009g0081 a0001c0001t0013g0277 a0001c0001t0023g0082 a0001c0001t0036g0059 a0001c0001t0040g0221 a0001c0002t0001g0055 a0001c0002t0001g0065 a0001c0002t0001g0074 a0001c0002t0001g0094 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0131 a0001c0002t0001g0148 a0001c0002t0001g0273 a0001c0002t0002g0066 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0220 a0001c0002t0004g0048 a0001c0002t0004g0063 a0001c0002t0004g0149 a0001c0002t0006g0181 a0001c0002t0006g0249 a0001c0002t0007g0168 a0001c0002t0013g0050 a0001c0002t0014g0075 a0001c0002t0014g0076 a0001c0002t0016g0051 a0001c0002t0017g0068 a0001c0002t0026g0259 a0001c0002t0027g0178 a0001c0002t0029g0085 a0001c0002t0030g0090 a0001c0002t0053g0005 a0001c0004t0001g0089 a0001c0004t0001g0256 a0001c0004t0001g0257 a0001c0004t0002g0143 a0001c0004t0002g0188 a0001c0004t0002g0191 a0001c0004t0002g0192 a0001c0004t0002g0233 a0001c0004t0002g0239 a0001c0004t0002g0260 a0001c0004t0003g0195 a0001c0004t0005g0070 a0001c0004t0023g0179 a0001c0004t0055g0003 a0001c0005t0001g0044 a0001c0005t0001g0088 a0001c0005t0001g0186 a0001c0005t0001g0187 a0001c0005t0001g0252 a0001c0005t0002g0190 a0001c0005t0002g0194 a0001c0005t0005g0271 a0001c0007t0009g0035 a0001c0007t0015g0041 a0001c0008t0001g0016 a0001c0008t0002g0010 a0001c0008t0013g0021 a0001c0008t0017g0011 a0001c0008t0028g0014 a0001c0008t0045g0255 a0001c0009t0012g0175 a0001c0010t0001g0061 a0001c0010t0001g0083 a0001c0010t0002g0100 a0001c0010t0002g0253 a0001c0010t0005g0060 a0001c0010t0038g0124 a0001c0010t0044g0095 a0001c0011t0001g0022 a0001c0011t0001g0046 a0001c0011t0001g0244 a0001c0011t0002g0020 a0001c0012t0001g0162 a0001c0012t0001g0197 a0001c0012t0010g0203 a0001c0013t0002g0258 a0001c0013t0009g0104 a0001c0013t0010g0039 a0001c0013t0010g0079 a0001c0013t0024g0004 a0001c0013t0050g0109 a0001c0015t0002g0015 a0001c0015t0009g0245 a0001c0018t0002g0038 a0001c0020t0001g0017 a0001c0020t0033g0023 a0001c0022t0003g0208 a0001c0022t0019g0264 a0001c0023t0002g0027 a0001c0027t0001g0045 a0001c0031t0001g0037 a0001c0032t0031g0129 a0001c0034t0018g0170 a0001c0036t0001g0278 a0001c0041t0001g0096 a0002c0003t0001g0219 a0002c0003t0001g0275 a0002c0003t0002g0280 a0002c0003t0003g0270 a0002c0003t0004g0043 a0002c0003t0004g0053 a0002c0003t0004g0078 a0002c0003t0004g0091 a0002c0003t0004g0118 a0002c0003t0004g0132 a0002c0003t0004g0145 a0002c0003t0004g0182 a0002c0003t0004g0199 a0002c0003t0004g0206 a0002c0003t0004g0226 a0002c0003t0004g0248 a0002c0003t0004g0268 a0002c0003t0004g0269 a0002c0003t0005g0222 a0002c0003t0005g0227 a0002c0003t0005g0266 a0002c0003t0005g0267 a0002c0003t0006g0049 a0002c0003t0014g0211 a0002c0003t0041g0146 a0002c0003t0046g0204 a0002c0021t0001g0262 a0002c0026t0020g0150 a0004c0016t0001g0147 a0004c0042t0039g0144 a0005c0037t0001g0042 a0010c0035t0001g0198	165	280	0.5893	7	c.225 others(28): Show c.2250+12990_2250+12996dupTTTTTTT		MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44					INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151317436	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01081.hp2 HG01168.hp1 others(26): Show HG00408.hp2 HG01081.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01346.hp2 HG01361.hp1 HG01928.hp1 HG02015.hp2 HG02148.hp2 HG02280.hp2 HG02300.hp2 HG02683.hp1 HG03130.hp2 HG03195.hp1 HG03486.hp1 HG03486.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 NA18941.hp2 NA18969.hp1 NA18971.hp2 NA18994.hp1 NA19002.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(4): Show a0001c0001 a0001c0002 a0001c0009 a0001c0012 a0001c0015 a0002c0003 a0002c0038	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0040 a0001c0002t0002 a0001c0009t0043 a0001c0012t0001 a0001c0012t0002 a0001c0012t0003 a0001c0015t0056 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0005 a0002c0038t0020	a0001c0001t0002g0230 a0001c0001t0003g0276 a0001c0001t0007g0159 others(26): Show a0001c0001t0002g0230 a0001c0001t0003g0276 a0001c0001t0007g0159 a0001c0001t0008g0229 a0001c0001t0008g0246 a0001c0001t0008g0247 a0001c0001t0008g0265 a0001c0001t0008g0272 a0001c0001t0040g0221 a0001c0002t0002g0112 a0001c0009t0043g0026 a0001c0012t0001g0162 a0001c0012t0002g0064 a0001c0012t0003g0185 a0001c0015t0056g0007 a0002c0003t0001g0275 a0002c0003t0002g0280 a0002c0003t0004g0043 a0002c0003t0004g0072 a0002c0003t0004g0073 a0002c0003t0004g0086 a0002c0003t0004g0118 a0002c0003t0004g0132 a0002c0003t0004g0226 a0002c0003t0004g0269 a0002c0003t0005g0222 a0002c0003t0005g0227 a0002c0003t0005g0267 a0002c0038t0020g0173	29	280	0.1036	7	c.225 others(28): Show c.2251-32599_2251-32593dupTTTTTTT		MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44					INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151334192	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01175.hp1 HG02145.hp1 others(2): Show HG00741.hp1 HG01175.hp1 HG02145.hp1 HG02280.hp2 HG03453.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0007 a0003c0006 a0001c0002 a0001c0007 a0003c0006	a0001c0002t0002 a0001c0007t0009 a0001c0007t0032 others(2): Show a0001c0002t0002 a0001c0007t0009 a0001c0007t0032 a0003c0006t0004 a0003c0006t0006	a0001c0002t0002g0112 a0001c0007t0009g0035 a0001c0007t0032g0032 others(2): Show a0001c0002t0002g0112 a0001c0007t0009g0035 a0001c0007t0032g0032 a0003c0006t0004g0157 a0003c0006t0006g0153	5	280	0.0179	7	c.225 others(28): Show c.2251-15864_2251-15863insTTTTTTT		MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44					INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151336694	T T	TGAAATGA TGAAATGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02109.hp2 others(18): Show HG01167.hp1 HG01169.hp2 HG02109.hp2 HG02486.hp2 HG02572.hp1 HG02630.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 NA18906.hp1 NA19043.hp1 NA19240.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0007 others(7): Show a0001c0001 a0001c0002 a0001c0007 a0001c0010 a0001c0013 a0001c0018 a0001c0023 a0001c0040 a0003c0043 a0006c0030	a0001c0001t0002 a0001c0001t0009 a0001c0001t0023 others(13): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0023 a0001c0002t0007 a0001c0002t0053 a0001c0007t0007 a0001c0010t0001 a0001c0013t0010 a0001c0013t0024 a0001c0013t0050 a0001c0018t0002 a0001c0018t0009 a0001c0023t0042 a0001c0040t0018 a0003c0043t0001 a0006c0030t0034	a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0009g0081 others(18): Show a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0009g0081 a0001c0001t0023g0082 a0001c0002t0007g0168 a0001c0002t0053g0005 a0001c0007t0007g0033 a0001c0007t0007g0034 a0001c0007t0007g0036 a0001c0007t0007g0128 a0001c0010t0001g0083 a0001c0013t0010g0039 a0001c0013t0010g0079 a0001c0013t0024g0004 a0001c0013t0050g0109 a0001c0018t0002g0038 a0001c0018t0009g0028 a0001c0023t0042g0161 a0001c0040t0018g0169 a0003c0043t0001g0103 a0006c0030t0034g0261	21	280	0.0750	7	c.225 others(28): Show c.2251-13361_2251-13355dupATGAGAA		MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44					INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151354140	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01081.hp1 HG02015.hp1 others(7): Show HG00423.hp2 HG01081.hp1 HG02015.hp1 HG02083.hp1 HG02486.hp1 HG02615.hp2 HG03831.hp2 NA18973.hp2 NA18979.hp2 NA19000.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0001c0005 a0001c0011 others(2): Show a0001c0004 a0001c0005 a0001c0011 a0001c0012 a0004c0016	a0001c0004t0001 a0001c0004t0022 a0001c0004t0055 others(6): Show a0001c0004t0001 a0001c0004t0022 a0001c0004t0055 a0001c0005t0001 a0001c0011t0001 a0001c0011t0002 a0001c0012t0001 a0004c0016t0001 a0004c0016t0057	a0001c0004t0001g0089 a0001c0004t0022g0122 a0001c0004t0055g0003 others(7): Show a0001c0004t0001g0089 a0001c0004t0022g0122 a0001c0004t0055g0003 a0001c0005t0001g0139 a0001c0005t0001g0167 a0001c0011t0001g0019 a0001c0011t0002g0020 a0001c0012t0001g0197 a0004c0016t0001g0147 a0004c0016t0057g0099	10	280	0.0357	7	c.239 others(24): Show c.2399-963_2399-957dupAAAAAAA		MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	17/44					INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12_chrX_71113596_71147450	71141246	A A	AACAGCAG AACAGCAG	frameshift_variant frameshift_variant	HIGH	NA19001.hp2 NA19001.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0001	a0009c0016t0001g0122 a0009c0016t0001g0122	1	273	0.0037	7	c.628 others(16): Show c.6285_6291dupACAGCAG	p.Gln others(6): Show p.Gln2098fs	MED12	ENSG00000184634.17	transcript	ENST00000374080.8	protein_coding	43/45	6451/6925	6292/6534	2098/2177		INFO_REALIGN_3_PRIME	chrX	TogoVar
MED12_chrX_71113596_71147450	71141277	A A	AGCAGCAC AGCAGCAC	frameshift_variant frameshift_variant	HIGH	NA19001.hp2 NA19001.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0001	a0009c0016t0001g0122 a0009c0016t0001g0122	1	273	0.0037	7	c.631 others(16): Show c.6315_6316insGCAGCAC	p.Gln others(6): Show p.Gln2106fs	MED12	ENSG00000184634.17	transcript	ENST00000374080.8	protein_coding	43/45	6475/6925	6316/6534	2106/2177			chrX	TogoVar
MED12_chrX_71113596_71147450	71146301	G G	GCCCGGCA GCCCGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	273	0.0037	7	c.40 others(18): Show c.4083_*4084insCCCGGCA		MED12	ENSG00000184634.17	transcript	ENST00000374080.8	protein_coding					3852		chrX	TogoVar
MED13L_chr12_115953576_116282693	116031756	A A	AAAGAAGG AAAGAAGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02615.hp2 NA18965.hp2 others(3): Show HG00408.hp2 HG02615.hp2 NA18965.hp2 NA19002.hp2 NA19009.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0017 a0001c0001 a0001c0002 a0001c0017	a0001c0001t0001 a0001c0001t0010 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0002 a0001c0017t0002	a0001c0001t0001g0046 a0001c0001t0010g0029 a0001c0002t0002g0049 others(3): Show a0001c0001t0001g0046 a0001c0001t0010g0029 a0001c0002t0002g0049 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0017t0002g0080	6	254	0.0236	7	c.480 others(24): Show c.480-9156_480-9155insCCTTCTT		MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30						chr12	TogoVar
MED13L_chr12_115953576_116282693	116031756	A A	AAGGAAGG AAGGAAGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 NA20300.hp2 HG02486.hp1 HG02559.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0119 a0001c0001t0003g0003 a0001c0001t0005g0185 a0001c0001t0001g0119 a0001c0001t0003g0003 a0001c0001t0005g0185	3	254	0.0118	7	c.480 others(24): Show c.480-9156_480-9155insCCTTCCT		MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30						chr12	TogoVar
MED13L_chr12_115953576_116282693	116038744	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18946.hp1 NA18952.hp2 others(3): Show NA18612.hp1 NA18946.hp1 NA18952.hp2 NA18984.hp2 NA18986.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0138 a0001c0001t0001g0142 others(3): Show a0001c0001t0001g0105 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0197	6	254	0.0236	7	c.480 others(26): Show c.480-16150_480-16144dupTTTTTTT		MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30						chr12	TogoVar
MED13L_chr12_115953576_116282693	116072450	G G	GTTTTTGT GTTTTTGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00558.hp2 others(42): Show HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00673.hp1 HG01123.hp2 HG01175.hp1 HG01255.hp2 HG01433.hp2 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp1 HG02071.hp1 HG02165.hp2 HG02523.hp1 HG03017.hp2 HG03130.hp1 HG03831.hp1 HG03927.hp2 NA18612.hp2 NA18945.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18957.hp1 NA18959.hp1 NA18963.hp1 NA18972.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp1 NA18992.hp2 NA19002.hp1 NA19012.hp1 NA19057.hp2 NA19068.hp2 NA19074.hp2 NA19079.hp1 NA19084.hp2 NA19087.hp2	a0001 a0005 a0008 others(2): Show a0001 a0005 a0008 a0009 a0012	a0001c0001 a0001c0004 a0001c0010 others(7): Show a0001c0001 a0001c0004 a0001c0010 a0001c0019 a0001c0020 a0001c0024 a0005c0021 a0008c0018 a0009c0022 a0012c0008	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0001c0010t0003 a0001c0019t0001 a0001c0020t0001 a0001c0024t0001 a0005c0021t0001 a0008c0018t0001 a0009c0022t0001 a0012c0008t0001	a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0065 others(42): Show a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0144 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0003g0007 a0001c0001t0003g0009 a0001c0001t0003g0020 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0004t0001g0244 a0001c0010t0003g0019 a0001c0019t0001g0168 a0001c0020t0001g0249 a0001c0024t0001g0132 a0005c0021t0001g0218 a0008c0018t0001g0034 a0009c0022t0001g0100 a0012c0008t0001g0161	45	254	0.1772	7	c.479 others(26): Show c.479+24212_479+24218dupACAAAAA		MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30						chr12	TogoVar
MED13L_chr12_115953576_116282693	116085727	C C	CTATAGTA CTATAGTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00423.hp2 others(65): Show HG00140.hp2 HG00323.hp2 HG00423.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp2 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01168.hp2 HG01346.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01981.hp1 HG02145.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp2 HG02698.hp1 HG02738.hp2 HG02895.hp1 HG03017.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03492.hp1 HG03516.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp2 HG06807.hp1 NA18939.hp1 NA18939.hp2 NA18949.hp1 NA18950.hp1 NA18957.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18977.hp2 NA18981.hp2 NA18986.hp1 NA19002.hp2 NA19005.hp2 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19087.hp1 NA19090.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0010 others(1): Show a0001 a0003 a0010 a0011	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0013 a0001c0015 a0001c0016 a0001c0017 a0003c0009 a0010c0014 a0011c0012	a0001c0001t0005 a0001c0002t0002 a0001c0002t0006 others(13): Show a0001c0001t0005 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0011 a0001c0003t0001 a0001c0003t0003 a0001c0003t0016 a0001c0006t0002 a0001c0013t0001 a0001c0015t0001 a0001c0016t0001 a0001c0017t0002 a0003c0009t0002 a0010c0014t0002 a0011c0012t0002	a0001c0001t0005g0185 a0001c0002t0002g0039 a0001c0002t0002g0040 others(65): Show a0001c0001t0005g0185 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0117 a0001c0002t0002g0120 a0001c0002t0002g0157 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0181 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0238 a0001c0002t0006g0008 a0001c0002t0006g0010 a0001c0002t0006g0022 a0001c0002t0009g0030 a0001c0002t0009g0031 a0001c0002t0011g0125 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0165 a0001c0003t0001g0186 a0001c0003t0001g0250 a0001c0003t0003g0024 a0001c0003t0016g0253 a0001c0006t0002g0037 a0001c0006t0002g0038 a0001c0013t0001g0112 a0001c0015t0001g0149 a0001c0016t0001g0226 a0001c0017t0002g0080 a0003c0009t0002g0089 a0010c0014t0002g0133 a0011c0012t0002g0047	68	254	0.2677	7	c.479 others(26): Show c.479+10941_479+10942insTACTATA		MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30						chr12	TogoVar
MED13L_chr12_115953576_116282693	116096354	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00733.hp1 HG02523.hp2 others(5): Show HG00544.hp2 HG00733.hp1 HG02523.hp2 HG02559.hp2 HG03710.hp1 NA18945.hp1 NA18946.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 others(5): Show a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0230 a0001c0001t0003g0017 a0001c0001t0003g0018	8	254	0.0315	7	c.479 others(22): Show c.479+308_479+314dupTTTTTTT		MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30						chr12	TogoVar
MED13L_chr12_115953576_116282693	116119836	A A	ATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02257.hp2 HG02451.hp2 others(1): Show HG01123.hp1 HG02257.hp2 HG02451.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0135 a0001c0001t0001g0172 others(1): Show a0001c0001t0001g0113 a0001c0001t0001g0135 a0001c0001t0001g0172 a0001c0001t0001g0230	4	254	0.0158	7	c.311 others(24): Show c.311-8325_311-8324insATATATA		MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	2/30						chr12	TogoVar
MED13L_chr12_115953576_116282693	116148051	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00558.hp1 others(47): Show HG00140.hp2 HG00323.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp2 HG01071.hp1 HG01081.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01981.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02698.hp1 HG03017.hp1 HG03139.hp1 HG03492.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp2 HG06807.hp1 NA18939.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18977.hp2 NA18986.hp1 NA19002.hp2 NA19005.hp2 NA19012.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19087.hp1 NA19090.hp2 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0017 a0003c0009 a0011c0012	a0001c0001t0001 a0001c0002t0002 a0001c0002t0006 others(8): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0011 a0001c0003t0012 a0001c0004t0001 a0001c0006t0002 a0001c0017t0002 a0003c0009t0002 a0011c0012t0002	a0001c0001t0001g0045 a0001c0001t0001g0154 a0001c0001t0001g0163 others(47): Show a0001c0001t0001g0045 a0001c0001t0001g0154 a0001c0001t0001g0163 a0001c0001t0001g0197 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0048 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0067 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0085 a0001c0002t0002g0087 a0001c0002t0002g0157 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0181 a0001c0002t0002g0198 a0001c0002t0002g0200 a0001c0002t0002g0238 a0001c0002t0006g0008 a0001c0002t0006g0022 a0001c0002t0009g0030 a0001c0002t0009g0031 a0001c0002t0011g0125 a0001c0003t0012g0111 a0001c0004t0001g0182 a0001c0004t0001g0183 a0001c0006t0002g0037 a0001c0006t0002g0038 a0001c0017t0002g0080 a0003c0009t0002g0089 a0011c0012t0002g0047	50	254	0.1969	7	c.311 others(26): Show c.311-36546_311-36540dupTTTTTTT		MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	2/30						chr12	TogoVar
MED13L_chr12_115953576_116282693	116279896	T T	TAAAAAAA TAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00558.hp1 others(62): Show HG00140.hp2 HG00408.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01346.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01943.hp2 HG02015.hp2 HG02074.hp2 HG02083.hp2 HG02165.hp2 HG02293.hp1 HG02698.hp1 HG03492.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp2 HG06807.hp1 NA18612.hp1 NA18939.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp2 NA18955.hp1 NA18959.hp2 NA18963.hp2 NA18964.hp2 NA18974.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA19002.hp2 NA19005.hp2 NA19012.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19087.hp1 NA19088.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0017 a0003c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0011 a0001c0003t0001 a0001c0006t0002 a0001c0017t0002 a0003c0009t0002	a0001c0001t0001g0045 a0001c0001t0001g0124 a0001c0001t0001g0126 others(62): Show a0001c0001t0001g0045 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0197 a0001c0001t0003g0021 a0001c0001t0005g0043 a0001c0001t0005g0145 a0001c0001t0005g0152 a0001c0001t0010g0029 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0048 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0078 a0001c0002t0002g0082 a0001c0002t0002g0084 a0001c0002t0002g0087 a0001c0002t0002g0157 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0179 a0001c0002t0002g0181 a0001c0002t0002g0198 a0001c0002t0002g0200 a0001c0002t0002g0238 a0001c0002t0006g0008 a0001c0002t0006g0010 a0001c0002t0006g0022 a0001c0002t0009g0030 a0001c0002t0009g0031 a0001c0002t0011g0125 a0001c0003t0001g0141 a0001c0006t0002g0037 a0001c0006t0002g0038 a0001c0017t0002g0080 a0003c0009t0002g0089	65	254	0.2559	7	c.-27 others(18): Show c.-2766_-2765insTTTTTTT		MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding					2204		chr12	TogoVar
MED13_chr17_61937605_62070278	62003599	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01433.hp1 HG01884.hp2 others(24): Show HG01175.hp1 HG01433.hp1 HG01884.hp2 HG01928.hp2 HG01978.hp1 HG02056.hp2 HG02080.hp2 HG02602.hp2 HG03486.hp1 HG03831.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18945.hp1 NA18960.hp2 NA18965.hp1 NA18966.hp1 NA18980.hp2 NA18985.hp2 NA18993.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19054.hp1 NA19054.hp2 NA19085.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0002 a0001c0001t0012 a0001c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0012 a0001c0002t0001 a0001c0003t0001 a0001c0003t0006 a0001c0007t0005	a0001c0001t0002g0125 a0001c0001t0002g0131 a0001c0001t0002g0139 others(24): Show a0001c0001t0002g0125 a0001c0001t0002g0131 a0001c0001t0002g0139 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0149 a0001c0001t0002g0155 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0248 a0001c0001t0012g0147 a0001c0002t0001g0017 a0001c0002t0001g0020 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0029 a0001c0002t0001g0041 a0001c0002t0001g0046 a0001c0002t0001g0057 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0288 a0001c0003t0001g0098 a0001c0003t0001g0307 a0001c0003t0001g0326 a0001c0003t0006g0093 a0001c0007t0005g0013	27	326	0.0828	7	c.196 others(26): Show c.1967+6944_1967+6950dupTTTTTTT		MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	9/29						chr17	TogoVar
MED13_chr17_61937605_62070278	62008016	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00639.hp2 others(38): Show HG00423.hp2 HG00544.hp1 HG00639.hp2 HG01106.hp2 HG01243.hp2 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG02027.hp1 HG02056.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02258.hp1 HG02559.hp1 HG02683.hp1 HG03654.hp2 HG03710.hp1 NA18747.hp2 NA18943.hp1 NA18946.hp1 NA18949.hp2 NA18954.hp1 NA18961.hp1 NA18967.hp2 NA18973.hp1 NA18975.hp1 NA18985.hp2 NA18991.hp1 NA18994.hp1 NA18999.hp2 NA19005.hp1 NA19009.hp2 NA19054.hp2 NA19057.hp1 NA19063.hp1 NA19066.hp2 NA19077.hp1 NA19086.hp1 NA19087.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014 a0001c0019	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0009 a0001c0002t0011 a0001c0002t0023 a0001c0002t0026 a0001c0003t0001 a0001c0014t0001 a0001c0019t0001	a0001c0001t0001g0078 a0001c0001t0001g0119 a0001c0001t0003g0290 others(38): Show a0001c0001t0001g0078 a0001c0001t0001g0119 a0001c0001t0003g0290 a0001c0002t0001g0001 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0029 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0101 a0001c0002t0001g0317 a0001c0002t0009g0070 a0001c0002t0011g0100 a0001c0002t0023g0040 a0001c0002t0026g0035 a0001c0003t0001g0069 a0001c0003t0001g0098 a0001c0003t0001g0294 a0001c0003t0001g0296 a0001c0003t0001g0303 a0001c0003t0001g0307 a0001c0003t0001g0308 a0001c0003t0001g0309 a0001c0014t0001g0304 a0001c0019t0001g0056	41	326	0.1258	7	c.196 others(26): Show c.1967+2527_1967+2533dupTTTTTTT		MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	9/29						chr17	TogoVar
MED13_chr17_61937605_62070278	62015955	T T	TATATATA TATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02970.hp1 HG03017.hp2 others(2): Show HG02572.hp1 HG02970.hp1 HG03017.hp2 NA19060.hp1 NA19084.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0004 a0006c0025 a0001c0001 a0001c0004 a0006c0025	a0001c0001t0002 a0001c0001t0012 a0001c0001t0021 others(2): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0021 a0001c0004t0001 a0006c0025t0001	a0001c0001t0002g0208 a0001c0001t0012g0144 a0001c0001t0021g0130 others(2): Show a0001c0001t0002g0208 a0001c0001t0012g0144 a0001c0001t0021g0130 a0001c0004t0001g0081 a0006c0025t0001g0320	5	326	0.0153	7	c.128 others(26): Show c.1284-4723_1284-4722insTATATAT		MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	8/29						chr17	TogoVar
MED14_chrX_40643305_40740542	40652309	T T	TGTTTAGG TGTTTAGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA19030.hp2 HG00733.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0010 a0001c0002t0001 a0001c0002t0010	a0001c0002t0001g0238 a0001c0002t0010g0237 a0001c0002t0001g0238 a0001c0002t0010g0237	2	251	0.0080	7	c.429 others(24): Show c.4292-437_4292-431dupCCTAAAC		MED14	ENSG00000180182.11	transcript	ENST00000324817.6	protein_coding	30/30						chrX	TogoVar
MED15_chr22_20502610_20592619	20505559	C C	CAAAAAAA CAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG02258.hp2 HG02451.hp2 others(16): Show HG01255.hp1 HG02258.hp2 HG02451.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03098.hp2 HG03209.hp1 HG03540.hp1 HG03579.hp2 NA18522.hp2 NA19086.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0018 a0001 a0002 a0018	a0001c0001 a0002c0003 a0018c0015 a0001c0001 a0002c0003 a0018c0015	a0001c0001t0001 a0002c0003t0001 a0018c0015t0011 a0001c0001t0001 a0002c0003t0001 a0018c0015t0011	a0001c0001t0001g0005 a0001c0001t0001g0197 a0001c0001t0001g0198 others(15): Show a0001c0001t0001g0005 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0278 a0001c0001t0001g0295 a0002c0003t0001g0009 a0002c0003t0001g0154 a0002c0003t0001g0302 a0018c0015t0011g0179	19	341	0.0557	7	c.-21 others(18): Show c.-2120_-2119insAAAAAAA		MED15	ENSG00000099917.17	transcript	ENST00000263205.11	protein_coding					2050		chr22	TogoVar
MED15_chr22_20502610_20592619	20511988	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00738.hp1 others(88): Show HG00423.hp2 HG00558.hp1 HG00738.hp1 HG01074.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01952.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03540.hp1 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18944.hp2 NA18945.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18991.hp2 NA18993.hp2 NA18995.hp1 NA19002.hp1 NA19007.hp1 NA19043.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0008 a0014 a0015	a0001c0001 a0001c0002 a0003c0005 others(7): Show a0001c0001 a0001c0002 a0003c0005 a0003c0012 a0003c0023 a0004c0009 a0004c0024 a0008c0008 a0014c0019 a0015c0018	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0002t0002 a0001c0002t0008 a0003c0005t0001 a0003c0005t0010 a0003c0012t0001 a0003c0023t0002 a0004c0009t0001 a0004c0024t0002 a0008c0008t0002 a0014c0019t0002 a0015c0018t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0196 others(82): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0013g0288 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0216 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0227 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0235 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0275 a0001c0002t0008g0222 a0003c0005t0001g0313 a0003c0005t0010g0303 a0003c0012t0001g0314 a0003c0023t0002g0239 a0004c0009t0001g0213 a0004c0009t0001g0214 a0004c0024t0002g0258 a0008c0008t0002g0217 a0008c0008t0002g0218 a0014c0019t0002g0291 a0015c0018t0002g0226	91	341	0.2669	7	c.68+ others(22): Show c.68+4253_68+4259dupTTTTTTT		MED15	ENSG00000099917.17	transcript	ENST00000263205.11	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr22	TogoVar
MED15_chr22_20502610_20592619	20570747	T T	TTTCTTTC TTTCTTTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00741.hp1 HG01109.hp1 others(25): Show HG00438.hp2 HG00741.hp1 HG01109.hp1 HG02132.hp1 HG02683.hp2 HG02698.hp2 HG02886.hp1 HG03017.hp2 HG03491.hp1 HG03669.hp1 HG03704.hp2 HG04184.hp1 NA18747.hp2 NA18939.hp2 NA18952.hp1 NA18956.hp2 NA18962.hp1 NA18963.hp2 NA18967.hp2 NA18993.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19068.hp2 NA19070.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0018	a0001c0001 a0002c0003 a0002c0014 others(3): Show a0001c0001 a0002c0003 a0002c0014 a0003c0005 a0009c0013 a0018c0015	a0001c0001t0001 a0002c0003t0001 a0002c0003t0012 others(4): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0012 a0002c0014t0001 a0003c0005t0001 a0009c0013t0001 a0018c0015t0011	a0001c0001t0001g0169 a0002c0003t0001g0004 a0002c0003t0001g0151 others(24): Show a0001c0001t0001g0169 a0002c0003t0001g0004 a0002c0003t0001g0151 a0002c0003t0001g0152 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0157 a0002c0003t0001g0158 a0002c0003t0001g0160 a0002c0003t0001g0161 a0002c0003t0001g0162 a0002c0003t0001g0167 a0002c0003t0001g0168 a0002c0003t0001g0170 a0002c0003t0001g0176 a0002c0003t0001g0178 a0002c0003t0001g0181 a0002c0003t0001g0182 a0002c0003t0001g0184 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0012g0175 a0002c0014t0001g0191 a0003c0005t0001g0153 a0009c0013t0001g0189 a0018c0015t0011g0179	28	341	0.0821	7	c.115 others(26): Show c.1152+2118_1152+2119insCTTTCTT		MED15	ENSG00000099917.17	transcript	ENST00000263205.11	protein_coding	8/17					INFO_REALIGN_3_PRIME	chr22	TogoVar
MED19_chr11_57698710_57717215	57702767	A A	ATATATAT ATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01515.hp2 HG02293.hp1 others(3): Show HG01257.hp1 HG01515.hp2 HG02293.hp1 HG02683.hp2 NA18946.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0043	6	380	0.0158	7	c.12 others(18): Show c.1270_*1271insATATATA		MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding					942		chr11	TogoVar
MED21_chr12_27017558_27035673	27023300	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp2 HG01069.hp1 others(63): Show HG00438.hp2 HG00642.hp2 HG01069.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp2 HG01517.hp2 HG02055.hp1 HG02056.hp2 HG02257.hp1 HG02602.hp1 HG02615.hp2 HG02683.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp1 HG03540.hp2 HG03942.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18956.hp2 NA18959.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18974.hp1 NA18977.hp2 NA18979.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19059.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp1 NA19078.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0007 a0001c0001t0002g0019 a0001c0001t0002g0030 others(6): Show a0001c0001t0002g0007 a0001c0001t0002g0019 a0001c0001t0002g0030 a0001c0001t0002g0048 a0001c0001t0003g0003 a0001c0001t0003g0010 a0001c0001t0003g0013 a0001c0001t0003g0024 a0001c0001t0003g0051	66	426	0.1549	7	c.42+ others(20): Show c.42+690_42+696dupTTTTTTT		MED21	ENSG00000152944.9	transcript	ENST00000282892.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr12	TogoVar
MED24_chr17_40014104_40059408	40058327	G G	GCCCAGAC GCCCAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp2 others(129): Show HG00099.hp1 HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG02818.hp1 HG02922.hp2 HG03225.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18969.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19068.hp2 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19090.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0002 a0001c0010 others(6): Show a0001c0001 a0001c0002 a0001c0010 a0001c0017 a0001c0020 a0002c0008 a0003c0021 a0005c0014 a0007c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0012 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0020 a0001c0010t0001 a0001c0017t0001 a0001c0020t0003 a0002c0008t0002 a0002c0008t0013 a0003c0021t0001 a0005c0014t0001 a0007c0011t0001	a0001c0001t0002g0156 a0001c0001t0002g0182 a0001c0001t0003g0115 others(95): Show a0001c0001t0002g0156 a0001c0001t0002g0182 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0005g0019 a0001c0001t0005g0164 a0001c0001t0006g0183 a0001c0001t0006g0184 a0001c0001t0011g0201 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0098 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0139 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0166 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0002g0130 a0001c0002t0008g0126 a0001c0002t0008g0131 a0001c0002t0008g0134 a0001c0002t0008g0138 a0001c0002t0008g0143 a0001c0002t0008g0144 a0001c0002t0008g0145 a0001c0002t0012g0186 a0001c0002t0012g0187 a0001c0002t0012g0188 a0001c0002t0012g0189 a0001c0002t0015g0114 a0001c0002t0015g0165 a0001c0002t0016g0161 a0001c0002t0016g0175 a0001c0002t0017g0116 a0001c0002t0020g0137 a0001c0010t0001g0021 a0001c0017t0001g0122 a0001c0020t0003g0167 a0002c0008t0002g0310 a0002c0008t0013g0309 a0003c0021t0001g0140 a0005c0014t0001g0190 a0007c0011t0001g0127	132	398	0.3317	7	c.-40 others(18): Show c.-4005_-4004insGTCTGGG		MED24	ENSG00000008838.21	transcript	ENST00000394128.7	protein_coding					3920		chr17	TogoVar
MED27_chr9_131855112_132084867	131881800	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp1 others(36): Show HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG01123.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01928.hp2 HG01981.hp1 HG02040.hp1 HG02055.hp2 HG02132.hp1 HG02273.hp2 HG02451.hp1 HG02895.hp1 HG03209.hp2 HG03453.hp2 NA18948.hp1 NA18956.hp1 NA18961.hp1 NA18969.hp1 NA18971.hp2 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA19004.hp2 NA19007.hp2 NA19066.hp1 NA19080.hp2 NA19084.hp1 NA19088.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0023 others(36): Show a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0001g0078 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0206 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0247	39	274	0.1423	7	c.723 others(24): Show c.723+2251_723+2257dupAAAAAAA		MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	6/7						chr9	TogoVar
MED27_chr9_131855112_132084867	131906450	A A	AGGGGGTC AGGGGGTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(195): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA19000.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 others(195): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0032 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0084 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0166 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0255 a0001c0001t0002g0258	198	274	0.7226	7	c.574 others(26): Show c.574-12459_574-12458insGACCCCC		MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	4/7						chr9	TogoVar
MED27_chr9_131855112_132084867	131941817	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01884.hp1 HG02809.hp2 others(5): Show HG01074.hp1 HG01884.hp1 HG02809.hp2 HG02818.hp2 HG02965.hp1 HG03209.hp1 HG03239.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0075 a0001c0001t0001g0249 a0001c0001t0001g0254 others(5): Show a0001c0001t0001g0075 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0002g0099 a0001c0001t0002g0107 a0001c0001t0002g0133 a0001c0001t0002g0138 a0001c0001t0002g0146	8	274	0.0292	7	c.480 others(24): Show c.480-2350_480-2344dupAAAAAAA		MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7						chr9	TogoVar
MED27_chr9_131855112_132084867	131966221	C C	CAAAACCA CAAAACCA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02818.hp1 HG01891.hp1 HG02109.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0096 a0001c0001t0001g0194 a0001c0001t0001g0195	3	274	0.0110	7	c.480 others(26): Show c.480-26754_480-26748dupTGGTTTT		MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7						chr9	TogoVar
MED27_chr9_131855112_132084867	131966383	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01261.hp2 HG02486.hp2 others(3): Show HG01258.hp1 HG01261.hp2 HG02486.hp2 HG03098.hp2 HG03225.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0016 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0057 a0001c0001t0001g0072 a0001c0001t0001g0169	6	274	0.0219	7	c.480 others(26): Show c.480-26916_480-26910dupTTTTTTT		MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7						chr9	TogoVar
MED27_chr9_131855112_132084867	132002918	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02135.hp2 others(10): Show HG02055.hp2 HG02109.hp2 HG02135.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp2 NA18940.hp1 NA19000.hp1 NA19012.hp2 NA19030.hp2 NA19063.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0103 others(10): Show a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0168 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0002g0091 a0001c0001t0002g0120	13	274	0.0475	7	c.479 others(26): Show c.479+11412_479+11418dupTTTTTTT		MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7						chr9	TogoVar
MED28_chr4_17609641_17639105	17613882	T T	TAAAAAAA TAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01361.hp1 HG01952.hp2 others(12): Show HG01106.hp2 HG01361.hp1 HG01952.hp2 HG02004.hp1 HG02015.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG03490.hp2 HG03492.hp1 HG03710.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0036 a0001c0001t0109 a0001c0001t0117 a0001c0003t0003	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0042 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0042 a0001c0001t0002g0051 a0001c0001t0007g0001 a0001c0001t0011g0052 a0001c0001t0036g0001 a0001c0001t0109g0001 a0001c0001t0117g0001 a0001c0003t0003g0004	15	328	0.0457	7	c.-77 others(16): Show c.-773_-772insAAAAAAA		MED28	ENSG00000118579.13	transcript	ENST00000237380.12	protein_coding					758		chr4	TogoVar

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