Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

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)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

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
GLYR1_chr16_4798203_4852288	4837932	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG04204.hp2 NA18906.hp1 HG02572.hp2 HG04204.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0018 a0001c0001t0010 a0001c0001t0018	a0001c0001t0010g0020 a0001c0001t0010g0021 a0001c0001t0018g0035 a0001c0001t0010g0020 a0001c0001t0010g0021 a0001c0001t0018g0035	3	352	0.0085	8	c.156 others(25): Show c.156-5028_156-5021dupATTTATTT	GLYR1	ENSG00000140632.17	transcript	ENST00000321919.14	protein_coding	3/15			chr16	TogoVar
GLYR1_chr16_4798203_4852288	4849596	C C	CTTTTTTT others(1): Show CTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG02451.hp2 others(11): Show HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02717.hp1 HG02818.hp2 HG02965.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015	a0001c0001t0001g0089 a0001c0001t0002g0173 a0001c0001t0004g0077 others(11): Show a0001c0001t0001g0089 a0001c0001t0002g0173 a0001c0001t0004g0077 a0001c0001t0007g0096 a0001c0001t0009g0087 a0001c0001t0009g0088 a0001c0001t0009g0090 a0001c0001t0009g0091 a0001c0001t0009g0093 a0001c0001t0009g0094 a0001c0001t0009g0095 a0001c0001t0009g0174 a0001c0001t0012g0092 a0001c0001t0015g0078	14	352	0.0398	8	c.-23 others(19): Show c.-2339_-2332dupAAAAAAAA	GLYR1	ENSG00000140632.17	transcript	ENST00000321919.14	protein_coding		2309		chr16	TogoVar
GLYR1_chr16_4798203_4852288	4849949	C C	CAAAAAAA others(1): Show CAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00438.hp1 others(66): Show HG00099.hp1 HG00408.hp1 HG00438.hp1 HG00673.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01167.hp1 HG01168.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01515.hp2 HG01517.hp2 HG01943.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02451.hp2 HG02622.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03130.hp2 HG03225.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG04204.hp1 NA18945.hp1 NA18945.hp2 NA18950.hp2 NA18957.hp1 NA18961.hp2 NA18977.hp1 NA18983.hp1 NA18991.hp2 NA19001.hp1 NA19054.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA20129.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0036 a0001c0001t0038 a0001c0002t0001 a0001c0002t0034	a0001c0001t0002g0153 a0001c0001t0002g0173 a0001c0001t0003g0004 others(63): Show a0001c0001t0002g0153 a0001c0001t0002g0173 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0109 a0001c0001t0003g0112 a0001c0001t0003g0118 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0132 a0001c0001t0003g0135 a0001c0001t0003g0137 a0001c0001t0003g0142 a0001c0001t0003g0145 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0004g0077 a0001c0001t0004g0134 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0191 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0198 a0001c0001t0004g0200 a0001c0001t0004g0202 a0001c0001t0004g0203 a0001c0001t0005g0103 a0001c0001t0006g0101 a0001c0001t0006g0125 a0001c0001t0006g0126 a0001c0001t0006g0196 a0001c0001t0007g0076 a0001c0001t0007g0096 a0001c0001t0007g0108 a0001c0001t0007g0146 a0001c0001t0008g0111 a0001c0001t0008g0113 a0001c0001t0008g0133 a0001c0001t0008g0143 a0001c0001t0009g0088 a0001c0001t0009g0174 a0001c0001t0012g0092 a0001c0001t0013g0055 a0001c0001t0013g0058 a0001c0001t0013g0097 a0001c0001t0016g0139 a0001c0001t0018g0027 a0001c0001t0019g0182 a0001c0001t0020g0006 a0001c0001t0036g0057 a0001c0001t0038g0177 a0001c0002t0001g0187 a0001c0002t0001g0197 a0001c0002t0034g0060	69	352	0.1960	8	c.-26 others(19): Show c.-2692_-2685dupTTTTTTTT	GLYR1	ENSG00000140632.17	transcript	ENST00000321919.14	protein_coding		2662		chr16	TogoVar
GLYR1_chr16_4798203_4852288	4849963	A A	AAAAAAAA others(1): Show AAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02896.hp2 HG03098.hp2 others(3): Show HG02280.hp1 HG02896.hp2 HG03098.hp2 HG03209.hp1 HG03453.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0021 a0001c0001t0007 a0001c0001t0021	a0001c0001t0007g0079 a0001c0001t0007g0080 a0001c0001t0007g0081 others(3): Show a0001c0001t0007g0079 a0001c0001t0007g0080 a0001c0001t0007g0081 a0001c0001t0007g0082 a0001c0001t0007g0083 a0001c0001t0021g0085	6	352	0.0171	8	c.-26 others(19): Show c.-2699_-2698insGTTTTTTT	GLYR1	ENSG00000140632.17	transcript	ENST00000321919.14	protein_coding		2676		chr16	TogoVar
GMCL1_chr2_69824660_69886384	69838336	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00558.hp2 others(13): Show HG00408.hp1 HG00423.hp2 HG00558.hp2 HG01891.hp2 HG01978.hp1 HG02257.hp2 HG02559.hp1 HG02572.hp1 HG02683.hp1 HG02717.hp1 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03516.hp1 NA18995.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0030	a0001c0001t0001g0019 a0001c0001t0001g0154 a0001c0001t0001g0155 others(12): Show a0001c0001t0001g0019 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0002g0037 a0001c0001t0003g0042 a0001c0001t0003g0045 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0015g0157 a0001c0001t0030g0083	16	390	0.0410	8	c.384 others(23): Show c.384+687_384+694dupAAAAAAAA	GMCL1	ENSG00000087338.5	transcript	ENST00000282570.4	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GMCL1_chr2_69824660_69886384	69871093	T T	TCACAATA others(1): Show TCACAATAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02895.hp2 HG02897.hp2 others(1): Show HG02622.hp2 HG02895.hp2 HG02897.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0019 a0001c0002t0007 a0001c0002t0019	a0001c0002t0007g0016 a0001c0002t0019g0115 a0001c0002t0019g0116 a0001c0002t0007g0016 a0001c0002t0019g0115 a0001c0002t0019g0116	4	390	0.0103	8	c.136 others(25): Show c.1365-650_1365-643dupACAATAGC	GMCL1	ENSG00000087338.5	transcript	ENST00000282570.4	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GMCL1_chr2_69824660_69886384	69877706	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01257.hp1 HG01258.hp1 others(16): Show HG00423.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02074.hp1 HG02300.hp1 HG02965.hp2 HG02976.hp2 NA18980.hp2 NA18981.hp1 NA19060.hp2 NA19084.hp2 NA19086.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0003t0004 a0001c0002t0004 a0001c0003t0004	a0001c0002t0004g0008 a0001c0002t0004g0009 a0001c0002t0004g0310 others(12): Show a0001c0002t0004g0008 a0001c0002t0004g0009 a0001c0002t0004g0310 a0001c0002t0004g0311 a0001c0002t0004g0312 a0001c0002t0004g0313 a0001c0002t0004g0317 a0001c0002t0004g0319 a0001c0002t0004g0321 a0001c0002t0004g0322 a0001c0002t0004g0336 a0001c0002t0004g0337 a0001c0002t0004g0338 a0001c0003t0004g0330 a0001c0003t0004g0331	19	390	0.0487	8	c.145 others(27): Show c.1453-1182_1453-1175dupTGTGTGTG	GMCL1	ENSG00000087338.5	transcript	ENST00000282570.4	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GMCL2_chr5_178179505_178192371	178187475	A A	ATTTTTTT others(1): Show ATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG00621.hp1 others(47): Show HG00408.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG02083.hp2 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp2 HG03239.hp1 HG03654.hp2 HG03942.hp2 NA18941.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp2 NA18955.hp1 NA18964.hp2 NA18967.hp2 NA18975.hp2 NA18980.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA19010.hp1 NA19011.hp2 NA19057.hp1 NA19063.hp1 NA19067.hp1 NA19070.hp2 NA19074.hp1	a0003 a0004 a0007 others(2): Show a0003 a0004 a0007 a0012 a0013	a0003c0003 a0004c0004 a0007c0007 others(2): Show a0003c0003 a0004c0004 a0007c0007 a0012c0015 a0013c0016	a0003c0003t0003 a0003c0003t0010 a0003c0003t0012 others(5): Show a0003c0003t0003 a0003c0003t0010 a0003c0003t0012 a0003c0003t0017 a0004c0004t0004 a0007c0007t0003 a0012c0015t0003 a0013c0016t0003	a0003c0003t0003g0000 a0003c0003t0010g0000 a0003c0003t0012g0000 others(5): Show a0003c0003t0003g0000 a0003c0003t0010g0000 a0003c0003t0012g0000 a0003c0003t0017g0000 a0004c0004t0004g0000 a0007c0007t0003g0000 a0012c0015t0003g0000 a0013c0016t0003g0000	50	452	0.1106	8	c.-17 others(17): Show c.-177_-176insAAAAAAAA	GMCL2	ENSG00000244234.3	transcript	ENST00000463439.3	protein_coding		105		chr5	TogoVar
GMDS_chr6_1618806_2250605	1652444	T T	TATATATA others(1): Show TATATATAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01175.hp2 HG01952.hp2 others(23): Show HG00558.hp1 HG01175.hp2 HG01952.hp2 HG02135.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02486.hp2 HG02572.hp1 HG02922.hp1 HG02970.hp2 HG03195.hp2 HG03453.hp1 HG03516.hp1 HG06807.hp2 NA18612.hp1 NA18970.hp1 NA18994.hp1 NA18998.hp1 NA19002.hp1 NA19009.hp2 NA19063.hp1 NA19079.hp1 NA19082.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0029 others(23): Show a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0070 a0001c0001t0001g0082 a0001c0001t0001g0124 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0002g0083 a0001c0002t0001g0021 a0001c0002t0001g0037 a0001c0002t0001g0057 a0001c0002t0001g0075 a0001c0002t0001g0079 a0001c0002t0001g0114 a0001c0002t0001g0118 a0001c0002t0001g0132 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0152 a0001c0002t0001g0159 a0001c0002t0002g0144	26	166	0.1566	8	c.988 others(27): Show c.988-27905_988-27904insTTATATAT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1808902	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG03130.hp1 others(2): Show HG02055.hp1 HG02451.hp1 HG03130.hp1 HG03540.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0085 others(2): Show a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0085 a0001c0001t0002g0060 a0001c0002t0002g0050	5	166	0.0301	8	c.772 others(27): Show c.772-66317_772-66316insCACACACA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1817108	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp1 HG02559.hp2 others(3): Show HG01243.hp1 HG02486.hp1 HG02559.hp2 HG02922.hp2 HG03098.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0001t0002g0088 others(3): Show a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0001t0002g0088 a0001c0002t0001g0093 a0001c0002t0001g0162 a0001c0002t0002g0044	6	166	0.0361	8	c.772 others(27): Show c.772-74530_772-74523dupGTGTGTGT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1827152	T T	TATATATG others(1): Show TATATATGC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02717.hp1 HG02896.hp1 HG02559.hp1 HG02717.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0090 a0001c0001t0002g0119 a0001c0001t0004g0104 a0001c0001t0002g0090 a0001c0001t0002g0119 a0001c0001t0004g0104	3	166	0.0181	8	c.772 others(27): Show c.772-84567_772-84566insGCATATAT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1852711	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02723.hp1 others(6): Show HG02486.hp1 HG02559.hp1 HG02723.hp1 HG02896.hp1 HG02922.hp2 HG03098.hp2 HG03195.hp1 HG03471.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0091 a0001c0001t0002g0038 a0001c0001t0002g0088 others(6): Show a0001c0001t0001g0091 a0001c0001t0002g0038 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0119 a0001c0002t0001g0093 a0001c0002t0002g0009 a0001c0002t0002g0044	9	166	0.0542	8	c.771 others(27): Show c.771+77384_771+77391dupAAAAAAAA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1871058	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03139.hp2 HG03453.hp2 others(1): Show HG02258.hp1 HG03139.hp2 HG03453.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0002g0004 a0001c0001t0002g0040 others(1): Show a0001c0001t0001g0002 a0001c0001t0002g0004 a0001c0001t0002g0040 a0001c0001t0002g0121	4	166	0.0241	8	c.771 others(27): Show c.771+59037_771+59044dupTGTGTGTG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1928970	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02055.hp1 HG02559.hp1 others(4): Show HG01069.hp2 HG02055.hp1 HG02559.hp1 HG02965.hp1 HG02965.hp2 HG03195.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0010 a0001c0001t0001g0052 a0001c0001t0001g0160 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0052 a0001c0001t0001g0160 a0001c0001t0002g0060 a0001c0001t0002g0119 a0001c0002t0002g0008 a0001c0002t0002g0050	7	166	0.0422	8	c.771 others(25): Show c.771+1125_771+1132dupATTTATTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2013925	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp2 HG02559.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0119 a0001c0002t0002g0059 a0001c0001t0002g0119 a0001c0002t0002g0059	2	166	0.0121	8	c.346 others(27): Show c.346-52967_346-52960dupATATATAT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2059707	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01261.hp1 HG02818.hp2 others(6): Show HG01175.hp1 HG01261.hp1 HG02818.hp2 HG03704.hp1 NA18522.hp2 NA18948.hp2 NA18950.hp1 NA18998.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006	a0001c0001t0001g0003 a0001c0001t0001g0095 a0001c0001t0001g0135 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0095 a0001c0001t0001g0135 a0001c0001t0001g0153 a0001c0002t0001g0032 a0001c0002t0001g0114 a0001c0002t0001g0118 a0001c0002t0002g0111 a0001c0002t0006g0166	9	166	0.0542	8	c.345 others(27): Show c.345+56056_345+56063dupTTTTTTTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2141865	G G	GCTCTCTC others(1): Show GCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA20905.hp1 HG03491.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0023 a0001c0001t0001g0034	2	166	0.0121	8	c.103 others(27): Show c.103-17142_103-17135dupAGAGAGAG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	1/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2162659	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02451.hp1 HG03209.hp2 HG02135.hp1 HG02451.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0073 a0001c0002t0001g0057 a0001c0002t0001g0074 a0001c0001t0001g0073 a0001c0002t0001g0057 a0001c0002t0001g0074	3	166	0.0181	8	c.103 others(27): Show c.103-37936_103-37929dupGTGTGTGT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	1/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2209570	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03834.hp1 NA18983.hp1 others(2): Show HG02280.hp2 HG03834.hp1 NA18983.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0035 a0001c0001t0001g0061 a0001c0001t0001g0157 others(2): Show a0001c0001t0001g0035 a0001c0001t0001g0061 a0001c0001t0001g0157 a0001c0001t0002g0062 a0001c0002t0001g0065	5	166	0.0301	8	c.102 others(27): Show c.102+35743_102+35750dupGTGTGTGT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	1/10			chr6	TogoVar
GMEB1_chr1_28663784_28724353	28672197	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00673.hp2 HG01074.hp1 others(20): Show HG00099.hp1 HG00673.hp2 HG01074.hp1 HG01255.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02165.hp1 HG02735.hp2 HG02809.hp1 HG03041.hp1 HG03041.hp2 HG03225.hp1 HG03491.hp1 HG03710.hp2 NA18942.hp1 NA18953.hp2 NA18968.hp1 NA18975.hp1 NA18995.hp2 NA19068.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0002t0016 a0001c0002t0026	a0001c0001t0001g0112 a0001c0001t0001g0238 a0001c0001t0001g0269 others(19): Show a0001c0001t0001g0112 a0001c0001t0001g0238 a0001c0001t0001g0269 a0001c0001t0003g0001 a0001c0001t0003g0091 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0278 a0001c0001t0010g0101 a0001c0001t0011g0105 a0001c0002t0016g0011 a0001c0002t0016g0085 a0001c0002t0026g0084	23	290	0.0793	8	c.-31 others(25): Show c.-31+3390_-31+3397dupATTTATTT	GMEB1	ENSG00000162419.13	transcript	ENST00000373816.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
GMEB1_chr1_28663784_28724353	28687377	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03453.hp2 NA18942.hp2 others(4): Show HG01496.hp2 HG03453.hp2 NA18942.hp2 NA18964.hp1 NA18967.hp1 NA18975.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0233 a0001c0001t0002g0055 a0001c0001t0002g0056 others(4): Show a0001c0001t0001g0233 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0071 a0001c0001t0002g0223 a0001c0001t0003g0236 a0001c0001t0005g0228	7	290	0.0241	8	c.129 others(25): Show c.129-2726_129-2725insAAAAAAAA	GMEB1	ENSG00000162419.13	transcript	ENST00000373816.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
GMEB1_chr1_28663784_28724353	28687379	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02145.hp1 others(2): Show HG01243.hp2 HG01884.hp2 HG02145.hp1 HG02970.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0025 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0025 a0001c0001t0044	a0001c0001t0002g0050 a0001c0001t0009g0082 a0001c0001t0009g0083 others(2): Show a0001c0001t0002g0050 a0001c0001t0009g0082 a0001c0001t0009g0083 a0001c0001t0025g0005 a0001c0001t0044g0095	5	290	0.0172	8	c.129 others(25): Show c.129-2724_129-2723insAAAAAAAA	GMEB1	ENSG00000162419.13	transcript	ENST00000373816.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
GMEB1_chr1_28663784_28724353	28687381	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA18995.hp2 NA19043.hp1 others(2): Show HG03491.hp2 NA18995.hp2 NA19043.hp1 NA19068.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0127 a0001c0001t0002g0045 a0001c0001t0002g0054 others(2): Show a0001c0001t0001g0127 a0001c0001t0002g0045 a0001c0001t0002g0054 a0001c0001t0003g0103 a0001c0001t0003g0109	5	290	0.0172	8	c.129 others(25): Show c.129-2722_129-2721insAAAAAAAA	GMEB1	ENSG00000162419.13	transcript	ENST00000373816.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
GMEB1_chr1_28663784_28724353	28687383	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01361.hp2 HG02040.hp2 others(2): Show HG01346.hp2 HG01361.hp2 HG02040.hp2 HG02976.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0041 a0001c0001t0001 a0001c0001t0002 a0001c0001t0041	a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0002g0029 others(2): Show a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0002g0029 a0001c0001t0002g0057 a0001c0001t0041g0126	5	290	0.0172	8	c.129 others(25): Show c.129-2720_129-2719insAAAAAAAA	GMEB1	ENSG00000162419.13	transcript	ENST00000373816.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
GMEB1_chr1_28663784_28724353	28691804	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18960.hp2 NA18978.hp1 others(4): Show NA18939.hp1 NA18960.hp2 NA18978.hp1 NA18993.hp2 NA18998.hp2 NA19054.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0001 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0265 others(4): Show a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0265 a0001c0001t0004g0007 a0001c0001t0004g0186 a0001c0001t0007g0187 a0001c0001t0007g0268	7	290	0.0241	8	c.336 others(23): Show c.336+135_336+142dupATTTATTT	GMEB1	ENSG00000162419.13	transcript	ENST00000373816.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
GMEB1_chr1_28663784_28724353	28697162	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00735.hp1 others(47): Show HG00323.hp2 HG00639.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01258.hp2 HG01496.hp2 HG02083.hp2 HG02132.hp1 HG02165.hp2 HG02280.hp1 HG02486.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG03041.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG04199.hp2 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18943.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18988.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19009.hp2 NA19012.hp2 NA19060.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0031 a0001c0001t0033 a0001c0003t0014 a0001c0004t0003	a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 others(46): Show a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0112 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0270 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0031 a0001c0001t0002g0048 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0061 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0079 a0001c0001t0002g0221 a0001c0001t0003g0001 a0001c0001t0003g0091 a0001c0001t0003g0103 a0001c0001t0003g0128 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0209 a0001c0001t0003g0240 a0001c0001t0004g0163 a0001c0001t0005g0228 a0001c0001t0011g0105 a0001c0001t0012g0168 a0001c0001t0012g0169 a0001c0001t0013g0149 a0001c0001t0017g0039 a0001c0001t0031g0272 a0001c0001t0033g0242 a0001c0003t0014g0043 a0001c0004t0003g0088 a0001c0004t0003g0232	50	290	0.1724	8	c.598 others(23): Show c.598+109_598+116dupATATATAT	GMEB1	ENSG00000162419.13	transcript	ENST00000373816.6	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
GMEB2_chr20_63582605_63632101	63598343	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp1 HG00642.hp2 others(74): Show HG00408.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG01074.hp1 HG01099.hp2 HG01256.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02074.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18955.hp1 NA18959.hp2 NA18962.hp2 NA18966.hp1 NA18967.hp2 NA18977.hp1 NA18984.hp2 NA18994.hp1 NA18998.hp2 NA19004.hp2 NA19054.hp2 NA19074.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0011 a0001c0012 a0002c0009	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 others(7): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0002t0001 a0001c0004t0018 a0001c0008t0001 a0001c0011t0001 a0001c0012t0001 a0002c0009t0001	a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0029 others(61): Show a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0077 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0282 a0001c0001t0009g0201 a0001c0001t0009g0216 a0001c0001t0011g0120 a0001c0001t0011g0254 a0001c0001t0015g0217 a0001c0002t0001g0003 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0043 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0076 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0109 a0001c0002t0001g0283 a0001c0004t0018g0092 a0001c0008t0001g0032 a0001c0011t0001g0241 a0001c0012t0001g0113 a0002c0009t0001g0075	77	330	0.2333	8	c.358 others(23): Show c.358-491_358-484dupGTGTGTGT	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	4/9			chr20	TogoVar
GMIP_chr19_19624476_19648657	19624789	T T	TTGTGTGT others(1): Show TTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01358.hp2 HG03710.hp2 others(3): Show HG01074.hp2 HG01358.hp2 HG03710.hp2 HG03942.hp2 HG04228.hp1 NA18950.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0012 a0003c0003t0001g0025 a0003c0003t0001g0054 others(1): Show a0003c0003t0001g0012 a0003c0003t0001g0025 a0003c0003t0001g0054 a0003c0003t0001g0102	6	416	0.0144	8	c.51 others(19): Show c.5166_*5173dupCACACACA	GMIP	ENSG00000089639.11	transcript	ENST00000203556.9	protein_coding		4686		chr19	TogoVar
GML_chr8_142829801_142851851	142843255	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00408.hp2 others(38): Show HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG01071.hp2 HG01074.hp2 HG01168.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01928.hp1 HG01978.hp1 HG02015.hp1 HG02109.hp1 HG02135.hp2 HG02647.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03492.hp2 HG03579.hp1 NA18953.hp1 NA18959.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18978.hp2 NA18986.hp1 NA18998.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19070.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0004t0003 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0003 a0002c0002t0003 a0002c0002t0004	a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0035 others(13): Show a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0059 a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0004g0116 a0001c0004t0003g0119 a0002c0002t0003g0014 a0002c0002t0003g0063 a0002c0002t0003g0144 a0002c0002t0003g0157 a0002c0002t0003g0159 a0002c0002t0004g0031	41	422	0.0972	8	c.181 others(25): Show c.181+2067_181+2074dupACACACAC	GML	ENSG00000104499.7	transcript	ENST00000220940.2	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
GML_chr8_142829801_142851851	142848173	G G	GGTGTGTG others(1): Show GGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG01167.hp1 others(7): Show HG00673.hp1 HG00673.hp2 HG01167.hp1 HG01257.hp1 HG02165.hp1 HG03669.hp2 NA18939.hp1 NA18944.hp2 NA18971.hp1 NA18987.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0006 others(2): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0167 a0002c0002t0002g0152	10	422	0.0237	8	c.14 others(19): Show c.1483_*1484insGTGTGTGT	GML	ENSG00000104499.7	transcript	ENST00000220940.2	protein_coding		1323		chr8	TogoVar
GMNC_chr3_190847737_190867694	190861455	C C	CATCTATC others(1): Show CATCTATCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01175.hp2 HG01243.hp1 others(11): Show HG00423.hp2 HG01175.hp2 HG01243.hp1 HG01515.hp2 HG01517.hp1 HG01952.hp2 HG02129.hp2 HG02735.hp2 HG03195.hp1 HG03579.hp1 NA18939.hp1 NA18957.hp2 NA18983.hp1 NA19076.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0007 a0001c0001 a0002c0002 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0005c0007t0003	a0001c0001t0001g0101 a0001c0001t0001g0301 a0001c0001t0002g0300 others(9): Show a0001c0001t0001g0101 a0001c0001t0001g0301 a0001c0001t0002g0300 a0001c0001t0005g0066 a0001c0001t0008g0078 a0002c0002t0001g0192 a0002c0002t0001g0302 a0002c0002t0002g0051 a0002c0002t0002g0252 a0002c0002t0002g0299 a0002c0002t0003g0100 a0005c0007t0003g0279	14	488	0.0287	8	c.4-6 others(19): Show c.4-605_4-598dupAGATAGAT	GMNC	ENSG00000205835.9	transcript	ENST00000442080.6	protein_coding	1/4			chr3	TogoVar
GMNN_chr6_24769937_24791099	24770398	T T	TTGTGTGT others(1): Show TTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01255.hp1 HG01433.hp2 others(8): Show HG01243.hp2 HG01255.hp1 HG01433.hp2 HG02109.hp1 HG02129.hp2 HG02970.hp2 HG03130.hp1 HG03471.hp2 HG03516.hp1 NA18612.hp2 NA19075.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0003 a0001c0001t0003 a0003c0003t0003	a0001c0001t0003g0033 a0003c0003t0003g0005 a0003c0003t0003g0007 others(1): Show a0001c0001t0003g0033 a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0013	11	412	0.0267	8	c.-48 others(19): Show c.-4872_-4871insTGTGTGTG	GMNN	ENSG00000112312.10	transcript	ENST00000230056.8	protein_coding		4538		chr6	TogoVar
GMPR_chr6_16233587_16300549	16238250	C C	CAAAAAAA others(1): Show CAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01256.hp1 HG03225.hp2 others(5): Show HG01255.hp1 HG01256.hp1 HG03225.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 NA19070.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0003 a0002c0002t0002	a0001c0001t0001g0036 a0001c0001t0001g0281 a0001c0001t0001g0283 others(5): Show a0001c0001t0001g0036 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0004g0280 a0001c0003t0003g0205 a0002c0002t0002g0141	8	344	0.0233	8	c.-44 others(17): Show c.-444_-443insAAAAAAAA	GMPR	ENSG00000137198.10	transcript	ENST00000259727.5	protein_coding		336		chr6	TogoVar
GMPR_chr6_16233587_16300549	16296660	G G	GTTTTTTT others(1): Show GTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02717.hp1 others(4): Show HG02630.hp2 HG02647.hp1 HG02717.hp1 NA18956.hp1 NA18967.hp2 NA19001.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005	a0001c0001t0001g0064 a0001c0001t0001g0253 a0001c0001t0003g0142 others(4): Show a0001c0001t0001g0064 a0001c0001t0001g0253 a0001c0001t0003g0142 a0001c0001t0003g0257 a0001c0003t0001g0023 a0001c0003t0003g0222 a0001c0003t0005g0137	7	344	0.0204	8	c.14 others(19): Show c.1474_*1475insTTTTTTTT	GMPR	ENSG00000137198.10	transcript	ENST00000259727.5	protein_coding		1112		chr6	TogoVar
GMPS_chr3_155865650_155949020	155886611	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01106.hp2 HG01192.hp2 others(3): Show HG00544.hp2 HG01106.hp2 HG01192.hp2 HG03942.hp2 NA18997.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0011 a0001c0002t0019 a0001c0002t0005 a0001c0002t0011 a0001c0002t0019	a0001c0002t0005g0255 a0001c0002t0005g0277 a0001c0002t0005g0282 others(3): Show a0001c0002t0005g0255 a0001c0002t0005g0277 a0001c0002t0005g0282 a0001c0002t0011g0258 a0001c0002t0011g0280 a0001c0002t0019g0274	6	380	0.0158	8	c.28- others(23): Show c.28-6887_28-6880dupTTTTTTTT	GMPS	ENSG00000163655.16	transcript	ENST00000496455.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
GNA11_chr19_3089362_3128999	3103519	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01168.hp1 HG01243.hp2 others(11): Show HG01106.hp2 HG01168.hp1 HG01243.hp2 HG01258.hp2 HG01261.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG02071.hp2 HG02300.hp2 HG02738.hp1 NA19064.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0002t0066 a0001c0001t0003 a0001c0001t0006 a0001c0002t0066	a0001c0001t0003g0042 a0001c0001t0003g0067 a0001c0001t0003g0159 others(9): Show a0001c0001t0003g0042 a0001c0001t0003g0067 a0001c0001t0003g0159 a0001c0001t0003g0183 a0001c0001t0003g0196 a0001c0001t0006g0043 a0001c0001t0006g0154 a0001c0001t0006g0160 a0001c0001t0006g0161 a0001c0001t0006g0162 a0001c0001t0006g0163 a0001c0002t0066g0155	14	425	0.0329	8	c.137 others(25): Show c.137-6606_137-6599dupTTTTTTTT	GNA11	ENSG00000088256.9	transcript	ENST00000078429.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA12_chr7_2723105_2849308	2756605	T T	TCAAACAA others(1): Show TCAAACAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01123.hp1 HG01192.hp2 others(40): Show HG01074.hp1 HG01123.hp1 HG01192.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02129.hp1 HG02148.hp1 HG02523.hp1 HG02698.hp1 HG02976.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18942.hp2 NA18943.hp1 NA18949.hp1 NA18960.hp2 NA18982.hp1 NA18990.hp2 NA18992.hp1 NA19002.hp2 NA19009.hp1 NA19043.hp2 NA19056.hp1 NA19062.hp2 NA19066.hp2 NA19067.hp2 NA19076.hp2 NA19086.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0019 others(2): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0019 a0001c0001t0022 a0001c0001t0033	a0001c0001t0004g0002 a0001c0001t0004g0010 a0001c0001t0004g0011 others(39): Show a0001c0001t0004g0002 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0028 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0127 a0001c0001t0004g0138 a0001c0001t0004g0151 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0289 a0001c0001t0008g0048 a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0008g0051 a0001c0001t0008g0052 a0001c0001t0008g0053 a0001c0001t0008g0054 a0001c0001t0008g0132 a0001c0001t0008g0283 a0001c0001t0019g0275 a0001c0001t0019g0276 a0001c0001t0022g0092 a0001c0001t0033g0110	43	322	0.1335	8	c.526 others(27): Show c.526-23112_526-23105dupTTTGTTTG	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	2/3			chr7	TogoVar
GNA12_chr7_2723105_2849308	2759140	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA19056.hp2 NA19080.hp1 HG00140.hp2 NA19056.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0001t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0001g0212 a0001c0001t0003g0032 a0001c0003t0001g0236 a0001c0001t0001g0212 a0001c0001t0003g0032 a0001c0003t0001g0236	3	322	0.0093	8	c.526 others(27): Show c.526-25647_526-25640dupATTTATTT	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	2/3			chr7	TogoVar
GNA12_chr7_2723105_2849308	2763191	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp2 HG01123.hp1 others(33): Show HG01074.hp1 HG01081.hp2 HG01123.hp1 HG01496.hp2 HG01884.hp1 HG02056.hp1 HG02071.hp2 HG02129.hp1 HG02451.hp1 HG02523.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02886.hp2 HG02970.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03490.hp1 HG03669.hp2 HG04184.hp1 HG04204.hp1 NA18942.hp2 NA18943.hp1 NA18949.hp1 NA18955.hp2 NA18956.hp2 NA18983.hp1 NA19002.hp2 NA19004.hp2 NA19056.hp1 NA19062.hp2 NA19066.hp2 NA19076.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0021 a0001c0001t0022 a0001c0001t0028 a0001c0002t0002	a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0019 others(33): Show a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0003g0096 a0001c0001t0003g0114 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0198 a0001c0001t0004g0056 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0098 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0120 a0001c0001t0004g0127 a0001c0001t0008g0048 a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0008g0053 a0001c0001t0008g0054 a0001c0001t0008g0132 a0001c0001t0008g0283 a0001c0001t0010g0074 a0001c0001t0010g0079 a0001c0001t0021g0044 a0001c0001t0022g0092 a0001c0001t0028g0284 a0001c0002t0002g0082	36	322	0.1118	8	c.526 others(27): Show c.526-29698_526-29691dupGTGTGTGT	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	2/3			chr7	TogoVar
GNA12_chr7_2723105_2849308	2780051	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02080.hp1 HG02132.hp1 others(8): Show HG00280.hp2 HG02080.hp1 HG02132.hp1 HG02698.hp1 HG02735.hp1 HG02965.hp1 NA18953.hp2 NA18975.hp2 NA18983.hp1 NA18992.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0020	a0001c0001t0002g0177 a0001c0001t0003g0031 a0001c0001t0003g0040 others(8): Show a0001c0001t0002g0177 a0001c0001t0003g0031 a0001c0001t0003g0040 a0001c0001t0003g0075 a0001c0001t0003g0106 a0001c0001t0003g0198 a0001c0001t0004g0090 a0001c0001t0006g0042 a0001c0001t0006g0064 a0001c0001t0008g0051 a0001c0001t0020g0024	11	322	0.0342	8	c.525 others(27): Show c.525+14869_525+14876dupATATATAT	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	2/3			chr7	TogoVar
GNA12_chr7_2723105_2849308	2781412	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00544.hp2 others(30): Show HG00140.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00741.hp1 HG01167.hp2 HG01169.hp2 HG01258.hp2 HG01934.hp2 HG01993.hp1 HG01993.hp2 HG02258.hp2 HG02273.hp2 HG02723.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp2 HG03471.hp1 HG03516.hp1 HG04184.hp1 NA18612.hp1 NA18906.hp1 NA18949.hp2 NA18953.hp2 NA18970.hp2 NA19005.hp2 NA19007.hp2 NA19066.hp1 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0021 a0001c0002t0002 a0001c0003t0001 a0001c0004t0018	a0001c0001t0001g0224 a0001c0001t0001g0233 a0001c0001t0001g0247 others(29): Show a0001c0001t0001g0224 a0001c0001t0001g0233 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0264 a0001c0001t0002g0001 a0001c0001t0002g0018 a0001c0001t0002g0027 a0001c0001t0002g0047 a0001c0001t0002g0077 a0001c0001t0002g0150 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0003g0013 a0001c0001t0003g0033 a0001c0001t0003g0114 a0001c0001t0003g0133 a0001c0001t0003g0144 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0006g0026 a0001c0001t0006g0042 a0001c0001t0006g0071 a0001c0001t0007g0194 a0001c0001t0021g0045 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0003t0001g0238 a0001c0004t0018g0265	33	322	0.1025	8	c.525 others(27): Show c.525+13508_525+13515dupCACACACA	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	2/3			chr7	TogoVar
GNA12_chr7_2723105_2849308	2783649	C C	CATTTATT others(1): Show CATTTATTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp1 HG01358.hp2 others(30): Show HG01069.hp2 HG01070.hp1 HG01358.hp2 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01993.hp2 HG02165.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02738.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG04184.hp2 NA18956.hp2 NA18959.hp2 NA18965.hp1 NA18974.hp2 NA18977.hp2 NA19000.hp2 NA19004.hp2 NA19030.hp2 NA19066.hp2 NA19067.hp2 NA19076.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19091.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0002t0002	a0001c0001t0002g0019 a0001c0001t0002g0085 a0001c0001t0002g0156 others(29): Show a0001c0001t0002g0019 a0001c0001t0002g0085 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0171 a0001c0001t0002g0294 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0003g0043 a0001c0001t0003g0070 a0001c0001t0003g0078 a0001c0001t0003g0145 a0001c0001t0003g0199 a0001c0001t0004g0099 a0001c0001t0004g0112 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0006g0064 a0001c0001t0006g0071 a0001c0001t0006g0097 a0001c0001t0008g0048 a0001c0001t0008g0052 a0001c0001t0010g0074 a0001c0001t0010g0079 a0001c0001t0011g0003 a0001c0001t0016g0130 a0001c0002t0002g0102	33	322	0.1025	8	c.525 others(27): Show c.525+11271_525+11278dupAAATAAAT	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	2/3			chr7	TogoVar
GNA12_chr7_2723105_2849308	2789132	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01074.hp2 HG01081.hp1 others(45): Show HG01069.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01261.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02698.hp1 HG02698.hp2 HG02976.hp1 HG03139.hp1 HG03139.hp2 HG03486.hp2 HG03491.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp2 HG06807.hp2 NA18942.hp2 NA18949.hp1 NA18953.hp1 NA18955.hp2 NA18960.hp2 NA18983.hp2 NA18990.hp2 NA18999.hp1 NA19002.hp2 NA19012.hp2 NA19043.hp1 NA19068.hp1 NA19086.hp2 NA20905.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0016 a0001c0001t0022 a0001c0001t0026 a0001c0001t0028 a0001c0001t0032 a0001c0001t0033 a0003c0005t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0256 others(45): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0003g0096 a0001c0001t0004g0010 a0001c0001t0004g0028 a0001c0001t0004g0086 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0111 a0001c0001t0004g0138 a0001c0001t0004g0188 a0001c0001t0005g0300 a0001c0001t0005g0302 a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0005g0308 a0001c0001t0005g0311 a0001c0001t0005g0312 a0001c0001t0005g0313 a0001c0001t0005g0314 a0001c0001t0005g0315 a0001c0001t0005g0319 a0001c0001t0007g0005 a0001c0001t0007g0148 a0001c0001t0007g0184 a0001c0001t0007g0269 a0001c0001t0007g0270 a0001c0001t0009g0139 a0001c0001t0009g0267 a0001c0001t0009g0274 a0001c0001t0016g0130 a0001c0001t0016g0131 a0001c0001t0022g0092 a0001c0001t0026g0288 a0001c0001t0028g0284 a0001c0001t0032g0254 a0001c0001t0033g0110 a0003c0005t0001g0257	48	322	0.1491	8	c.525 others(25): Show c.525+5788_525+5795dupAAAAAAAA	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	2/3			chr7	TogoVar
GNA12_chr7_2723105_2849308	2816240	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp1 others(76): Show HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01109.hp2 HG01169.hp1 HG01175.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01978.hp2 HG02071.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp2 HG02615.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03139.hp2 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18943.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18962.hp2 NA18965.hp2 NA18970.hp2 NA18974.hp1 NA18979.hp2 NA18983.hp2 NA18992.hp2 NA18999.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19012.hp2 NA19043.hp1 NA19057.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19080.hp2 NA19085.hp2 NA19086.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0003c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0003t0001 a0001c0004t0014 a0003c0005t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(76): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0173 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0005g0312 a0001c0001t0005g0313 a0001c0001t0006g0246 a0001c0001t0007g0192 a0001c0001t0007g0193 a0001c0001t0007g0194 a0001c0001t0013g0277 a0001c0001t0013g0278 a0001c0001t0013g0279 a0001c0001t0030g0213 a0001c0001t0031g0181 a0001c0001t0032g0254 a0001c0003t0001g0227 a0001c0004t0014g0285 a0001c0004t0014g0286 a0001c0004t0014g0287 a0003c0005t0001g0257	79	322	0.2453	8	c.310 others(27): Show c.310-21105_310-21098dupAAAAAAAA	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	1/3			chr7	TogoVar
GNA13_chr17_65004289_65061740	65031886	G G	GAGAGAGA others(1): Show GAGAGAGAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03710.hp1 HG03516.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0067 a0001c0001t0001g0045 a0001c0001t0001g0067	2	180	0.0111	8	c.511 others(27): Show c.511-13584_511-13583insTTCTCTCT	GNA13	ENSG00000120063.10	transcript	ENST00000439174.7	protein_coding	2/3			chr17	TogoVar
GNA13_chr17_65004289_65061740	65031921	A A	AGAGAGTG others(1): Show AGAGAGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG03209.hp1 HG01884.hp2 HG02451.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0025 a0001c0001t0001g0078 a0001c0001t0001g0086	3	180	0.0167	8	c.511 others(27): Show c.511-13619_511-13618insACACTCTC	GNA13	ENSG00000120063.10	transcript	ENST00000439174.7	protein_coding	2/3			chr17	TogoVar
GNA13_chr17_65004289_65061740	65031921	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03491.hp2 HG03492.hp2 HG02965.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0010g0121 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0010g0121	3	180	0.0167	8	c.511 others(27): Show c.511-13626_511-13619dupACACACAC	GNA13	ENSG00000120063.10	transcript	ENST00000439174.7	protein_coding	2/3			chr17	TogoVar
GNA14_chr9_77418079_77653322	77431024	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02004.hp2 HG02015.hp1 others(9): Show HG00597.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02165.hp1 NA18964.hp2 NA18986.hp2 NA19000.hp2 NA19003.hp1 NA19012.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011	a0001c0001t0004g0049 a0001c0001t0004g0051 a0001c0001t0004g0055 others(9): Show a0001c0001t0004g0049 a0001c0001t0004g0051 a0001c0001t0004g0055 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0089 a0001c0001t0004g0092 a0001c0001t0007g0181 a0001c0001t0007g0189 a0001c0001t0007g0209 a0001c0001t0007g0216 a0001c0001t0011g0091	12	240	0.0500	8	c.593 others(23): Show c.593+289_593+296dupCACACACA	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	4/6			chr9	TogoVar
GNA14_chr9_77418079_77653322	77467000	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02129.hp2 HG02155.hp2 others(13): Show HG01934.hp1 HG02129.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02622.hp1 HG02717.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03471.hp2 NA18951.hp2 NA19056.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0001c0012	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0006t0010 a0001c0011t0001 a0001c0012t0004	a0001c0001t0001g0016 a0001c0001t0001g0047 a0001c0001t0005g0205 others(13): Show a0001c0001t0001g0016 a0001c0001t0001g0047 a0001c0001t0005g0205 a0001c0001t0006g0129 a0001c0002t0001g0032 a0001c0002t0001g0037 a0001c0002t0001g0103 a0001c0002t0001g0152 a0001c0002t0002g0194 a0001c0002t0002g0208 a0001c0006t0001g0144 a0001c0006t0010g0140 a0001c0006t0010g0159 a0001c0011t0001g0134 a0001c0011t0001g0169 a0001c0012t0004g0165	16	240	0.0667	8	c.310 others(27): Show c.310-32486_310-32479dupACACACAC	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	2/6			chr9	TogoVar

Search by Variant

Search

Search Results