Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ABCC4_chr13_95014835_95306451	95196582	GAGGAAGG others(85): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02109.hp2 HG02970.hp1 others(4): Show HG01433.hp1 HG02109.hp2 HG02970.hp1 HG03209.hp2 NA19060.hp1 NA19091.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0012 a0001c0023 a0001c0036 others(4): Show a0001c0012 a0001c0023 a0001c0036 a0002c0004 a0002c0015 a0003c0008 a0004c0006	a0001c0012t0001 a0001c0023t0003 a0001c0036t0001 others(4): Show a0001c0012t0001 a0001c0023t0003 a0001c0036t0001 a0002c0004t0002 a0002c0015t0007 a0003c0008t0001 a0004c0006t0001	a0001c0012t0001g0080 a0001c0023t0003g0073 a0001c0036t0001g0194 others(4): Show a0001c0012t0001g0080 a0001c0023t0003g0073 a0001c0036t0001g0194 a0002c0004t0002g0094 a0002c0015t0007g0071 a0003c0008t0001g0141 a0004c0006t0001g0139	7	63	0.1111	-92	c.116 others(111): Show c.1162-1737_1162-1646delTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	8/30			chr13	TogoVar
ACACB_chr12_109111587_109273226	109194518	GTGTGTGT others(85): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTACATTGGCCTCCCAAA GTGCTGGGATTACAGTCATGAGCCACCCCCTGGCCTCTGCCTC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01515.hp2 NA18955.hp2 others(1): Show HG01069.hp1 HG01515.hp2 NA18955.hp2 NA18974.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0001c0023 a0009c0025 a0001c0002 a0001c0023 a0009c0025	a0001c0002t0001 a0001c0002t0008 a0001c0023t0001 others(1): Show a0001c0002t0001 a0001c0002t0008 a0001c0023t0001 a0009c0025t0001	a0001c0002t0001g0002 a0001c0002t0008g0304 a0001c0023t0001g0093 others(1): Show a0001c0002t0001g0002 a0001c0002t0008g0304 a0001c0023t0001g0093 a0009c0025t0001g0268	4	306	0.0131	-92	c.248 others(109): Show c.2481+821_2481+912delTTACATTGGCCTCCCAAAGTGCTGGGAT TACAGTCATGAGCCACCCCCTGGCCTCTGCCTCTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	16/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1288255	TCCCGTGT others(85): Show TCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG02056.hp1 HG03453.hp2 others(6): Show HG00621.hp2 HG02056.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 NA18954.hp1 NA18955.hp1 NA18983.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0021 a0001c0001t0002g0004 a0001c0001t0002g0011 others(2): Show a0001c0001t0001g0021 a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0003g0002 a0001c0001t0003g0142	9	279	0.0323	-92	c.52 others(103): Show c.5217_*5308delGGACGGGGCAGAGACACGGGACGGAGCAGGGACA CGGGACGGAGCAGACACGGGACGGAGCAGAGACTCGGGGGACGGAGCAGA GACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4135		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288757	CCGTGTCC others(85): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGT TCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	285	0.0035	-92	c.47 others(103): Show c.4715_*4806delACGGAGCAGAGACACGGGACGGAGCAGAGACTCG GGGGACGGAACAGGGACACGGGGGACGGAGCAGAGACACGGGACGGAGCA GGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3633		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288936	TTCCGTCC others(85): Show TTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	74	0.0135	-92	c.45 others(103): Show c.4537_*4628delCAGGGACACGGGACGGAGCAGAGACACGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACTCGGG GGACGGAA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3455		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289207	CCGTGTCT others(85): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	291	0.0034	-92	c.42 others(103): Show c.4265_*4356delACGGGGCAGGGACACGGGACGGAGCAGGGACACG GGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCA GAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3183		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289460	TCTGCCCC others(85): Show TCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG02897.hp2 HG01346.hp1 HG02897.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0051 a0003c0004t0001g0204 a0001c0001t0001g0051 a0003c0004t0001g0204	2	281	0.0071	-92	c.40 others(103): Show c.4012_*4103delGGACACGGGACGGAGCAGGGACACGGGACGGAGC AGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGA CGGGGCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2930		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289465	CCCGTCCC others(85): Show CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0208 a0003c0004t0001g0208	1	175	0.0057	-92	c.40 others(103): Show c.4007_*4098delAGCAGGGACACGGGACGGAGCAGGGACACGGGAC GGAGCAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGGGACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2925		chr1	TogoVar
ACSF3_chr16_89088852_89161233	89160373	CCCCCCGC others(85): Show CCCCCCGCTTCCTCACCCGAAGACCCCCCGCTTCCTCACCCGAAGACCCC CCGCTTCCTCACCCAAAGACCCCCCGCTTCCTTGCCCCGAAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(89): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00673.hp1 HG00741.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02300.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03471.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18952.hp1 NA18954.hp1 NA18961.hp1 NA18966.hp1 NA18968.hp2 NA18971.hp1 NA18982.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19083.hp1 NA19085.hp2 NA19088.hp2 NA20129.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0010 a0012	a0001c0001 a0002c0002 a0002c0003 others(9): Show a0001c0001 a0002c0002 a0002c0003 a0002c0021 a0003c0006 a0003c0007 a0003c0008 a0003c0010 a0005c0009 a0006c0012 a0010c0024 a0012c0022	a0001c0001t0001 a0001c0001t0014 a0002c0002t0004 others(24): Show a0001c0001t0001 a0001c0001t0014 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0013 a0002c0002t0018 a0002c0002t0039 a0002c0002t0042 a0002c0002t0043 a0002c0002t0052 a0002c0002t0053 a0002c0002t0054 a0002c0003t0004 a0002c0003t0006 a0002c0021t0004 a0003c0006t0007 a0003c0006t0046 a0003c0006t0057 a0003c0007t0007 a0003c0008t0047 a0003c0010t0004 a0005c0009t0014 a0005c0009t0032 a0006c0012t0006 a0010c0024t0004 a0012c0022t0007	a0001c0001t0001g0103 a0001c0001t0014g0105 a0002c0002t0004g0123 others(87): Show a0001c0001t0001g0103 a0001c0001t0014g0105 a0002c0002t0004g0123 a0002c0002t0004g0124 a0002c0002t0004g0126 a0002c0002t0004g0129 a0002c0002t0004g0136 a0002c0002t0004g0142 a0002c0002t0004g0143 a0002c0002t0004g0149 a0002c0002t0004g0150 a0002c0002t0004g0199 a0002c0002t0004g0211 a0002c0002t0004g0220 a0002c0002t0004g0221 a0002c0002t0004g0339 a0002c0002t0004g0340 a0002c0002t0004g0349 a0002c0002t0006g0070 a0002c0002t0006g0071 a0002c0002t0006g0113 a0002c0002t0006g0117 a0002c0002t0006g0137 a0002c0002t0006g0138 a0002c0002t0006g0140 a0002c0002t0006g0141 a0002c0002t0006g0145 a0002c0002t0006g0151 a0002c0002t0006g0152 a0002c0002t0006g0154 a0002c0002t0006g0156 a0002c0002t0006g0200 a0002c0002t0006g0207 a0002c0002t0006g0208 a0002c0002t0006g0209 a0002c0002t0006g0210 a0002c0002t0006g0219 a0002c0002t0007g0114 a0002c0002t0013g0006 a0002c0002t0013g0146 a0002c0002t0018g0139 a0002c0002t0018g0206 a0002c0002t0039g0130 a0002c0002t0042g0128 a0002c0002t0043g0120 a0002c0002t0052g0116 a0002c0002t0053g0144 a0002c0002t0054g0127 a0002c0003t0004g0023 a0002c0003t0004g0025 a0002c0003t0004g0066 a0002c0003t0004g0067 a0002c0003t0004g0100 a0002c0003t0004g0101 a0002c0003t0006g0024 a0002c0021t0004g0109 a0003c0006t0007g0005 a0003c0006t0007g0022 a0003c0006t0007g0049 a0003c0006t0007g0055 a0003c0006t0007g0056 a0003c0006t0007g0058 a0003c0006t0007g0059 a0003c0006t0007g0060 a0003c0006t0007g0062 a0003c0006t0007g0072 a0003c0006t0007g0073 a0003c0006t0007g0074 a0003c0006t0007g0111 a0003c0006t0046g0061 a0003c0006t0057g0338 a0003c0007t0007g0050 a0003c0007t0007g0051 a0003c0007t0007g0052 a0003c0007t0007g0053 a0003c0007t0007g0054 a0003c0007t0007g0069 a0003c0007t0007g0097 a0003c0007t0007g0098 a0003c0007t0007g0099 a0003c0008t0047g0057 a0003c0010t0004g0132 a0003c0010t0004g0133 a0005c0009t0014g0253 a0005c0009t0032g0348 a0006c0012t0006g0201 a0006c0012t0006g0202 a0006c0012t0006g0203 a0010c0024t0004g0122 a0012c0022t0007g0068	92	366	0.2514	-92	c.61 others(103): Show c.6167_*6258delCCCCCGCTTCCTCACCCGAAGACCCCCCGCTTCC TCACCCGAAGACCCCCCGCTTCCTCACCCAAAGACCCCCCGCTTCCTTGC CCCGAAGA	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding		4141		chr16	TogoVar
ADAM9_chr8_38991973_39110261	39045058	GTGCATAC others(85): Show GTGCATACATACATATGTGTGTGTGCATACATACATATGTGTGTGTGCAT ACATACATATGTGTGTGTGCATACATACATATATGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp2 HG01074.hp2 others(9): Show HG00099.hp2 HG00673.hp2 HG01074.hp2 HG02135.hp2 NA18960.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA19003.hp1 NA19074.hp2 NA19077.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0216 a0001c0001t0001g0260 others(9): Show a0001c0001t0001g0032 a0001c0001t0001g0216 a0001c0001t0001g0260 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314	12	327	0.0367	-92	c.130 others(111): Show c.1302+2944_1302+3035delCATACATACATATGTGTGTGTGCATA CATACATATGTGTGTGTGCATACATACATATGTGTGTGTGCATACATACA TATATGTGTATATATG	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAMTS2_chr5_179105853_179350461	179277883	CCCCCTGC others(85): Show CCCCCTGCGAGACCAAAGGCTGACCCCCCCCCGAGACCAAAGGCTGACCC CCCCCGAGACCAACGGCTGACCCCCTCCAAGACCAAAGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp2 HG02155.hp1 others(10): Show HG02074.hp1 HG02074.hp2 HG02155.hp1 NA18945.hp2 NA18971.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18995.hp2 NA19011.hp1 NA19084.hp1 NA19091.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0009 a0013	a0001c0001 a0001c0004 a0001c0050 others(8): Show a0001c0001 a0001c0004 a0001c0050 a0002c0003 a0002c0010 a0002c0093 a0003c0002 a0003c0008 a0006c0088 a0009c0020 a0013c0025	a0001c0001t0002 a0001c0001t0004 a0001c0004t0006 others(10): Show a0001c0001t0002 a0001c0001t0004 a0001c0004t0006 a0001c0050t0001 a0002c0003t0001 a0002c0010t0003 a0002c0093t0001 a0003c0002t0001 a0003c0002t0006 a0003c0008t0002 a0006c0088t0003 a0009c0020t0003 a0013c0025t0001	a0001c0001t0002g0102 a0001c0001t0004g0027 a0001c0004t0006g0154 others(10): Show a0001c0001t0002g0102 a0001c0001t0004g0027 a0001c0004t0006g0154 a0001c0050t0001g0175 a0002c0003t0001g0240 a0002c0010t0003g0239 a0002c0093t0001g0271 a0003c0002t0001g0014 a0003c0002t0006g0087 a0003c0008t0002g0155 a0006c0088t0003g0215 a0009c0020t0003g0092 a0013c0025t0001g0097	13	263	0.0494	-92	c.535 others(109): Show c.535-4911_535-4820delTCAGCCTTTGGTCTTGGAGGGGGTCAGC CGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCCTT TGGTCTCGCAGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS7_chr15_78754206_78816464	78791921	GGAAATGG others(85): Show GGAAATGGCTGGGGAAAGCCATCTGCTCTTTTAAAACTCCCTCAGAACAA AAAAGAGGCCAGCCCATGACTGGGGACAGCTGGCAGGTTCCCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(62): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00558.hp1 HG00609.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01081.hp1 HG01099.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02109.hp2 HG02622.hp2 HG02698.hp2 HG02818.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18964.hp2 NA18966.hp1 NA18981.hp2 NA18992.hp2 NA18997.hp2 NA19002.hp1 NA19068.hp2 NA19081.hp1 NA19087.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0005 a0006 a0008 others(13): Show a0005 a0006 a0008 a0010 a0029 a0033 a0040 a0043 a0044 a0046 a0048 a0050 a0055 a0061 a0070 a0073	a0005c0005 a0005c0047 a0005c0108 others(17): Show a0005c0005 a0005c0047 a0005c0108 a0006c0007 a0006c0119 a0008c0008 a0010c0113 a0029c0114 a0029c0115 a0033c0046 a0040c0121 a0043c0118 a0044c0107 a0046c0080 a0048c0117 a0050c0111 a0055c0112 a0061c0109 a0070c0116 a0073c0110	a0005c0005t0002 a0005c0005t0011 a0005c0047t0002 others(18): Show a0005c0005t0002 a0005c0005t0011 a0005c0047t0002 a0005c0108t0002 a0006c0007t0001 a0006c0119t0001 a0008c0008t0002 a0010c0113t0003 a0029c0114t0001 a0029c0115t0001 a0033c0046t0001 a0040c0121t0001 a0043c0118t0001 a0044c0107t0002 a0046c0080t0002 a0048c0117t0001 a0050c0111t0001 a0055c0112t0001 a0061c0109t0002 a0070c0116t0001 a0073c0110t0002	a0005c0005t0002g0009 a0005c0005t0002g0012 a0005c0005t0002g0115 others(56): Show a0005c0005t0002g0009 a0005c0005t0002g0012 a0005c0005t0002g0115 a0005c0005t0002g0117 a0005c0005t0002g0119 a0005c0005t0002g0120 a0005c0005t0002g0121 a0005c0005t0002g0122 a0005c0005t0002g0124 a0005c0005t0002g0125 a0005c0005t0002g0126 a0005c0005t0002g0127 a0005c0005t0002g0128 a0005c0005t0002g0131 a0005c0005t0002g0171 a0005c0005t0002g0235 a0005c0005t0002g0236 a0005c0005t0011g0118 a0005c0047t0002g0140 a0005c0047t0002g0141 a0005c0108t0002g0129 a0006c0007t0001g0005 a0006c0007t0001g0011 a0006c0007t0001g0116 a0006c0007t0001g0130 a0006c0007t0001g0157 a0006c0007t0001g0158 a0006c0007t0001g0167 a0006c0007t0001g0168 a0006c0007t0001g0169 a0006c0007t0001g0170 a0006c0007t0001g0237 a0006c0119t0001g0159 a0008c0008t0002g0010 a0008c0008t0002g0132 a0008c0008t0002g0133 a0008c0008t0002g0134 a0008c0008t0002g0135 a0008c0008t0002g0137 a0008c0008t0002g0138 a0008c0008t0002g0139 a0008c0008t0002g0142 a0008c0008t0002g0143 a0008c0008t0002g0239 a0010c0113t0003g0113 a0029c0114t0001g0050 a0029c0115t0001g0146 a0033c0046t0001g0153 a0033c0046t0001g0161 a0040c0121t0001g0049 a0043c0118t0001g0136 a0044c0107t0002g0123 a0046c0080t0002g0295 a0048c0117t0001g0152 a0050c0111t0001g0148 a0055c0112t0001g0147 a0061c0109t0002g0145 a0070c0116t0001g0166 a0073c0110t0002g0144	65	378	0.1720	-92	c.820 others(107): Show c.820-790_820-699delTGGGAACCTGCCAGCTGTCCCCAGTCATGG GCTGGCCTCTTTTTTGTTCTGAGGGAGTTTTAAAAGAGCAGATGGCTTTC CCCAGCCATTTC	ADAMTS7	ENSG00000136378.15	transcript	ENST00000388820.5	protein_coding	4/23			chr15	TogoVar
ADARB1_chr21_45069580_45231560	45229473	GTTAGTTC others(85): Show GTTAGTTCCCACCAACTTTCAGCCCCTCACCAGCACAGGGCCTTTGCACT GCCTTGATCTGTTCCCAAGGACATCTGGGACCCAGTGGTGTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0069 a0001c0002t0069	a0001c0002t0069g0234 a0001c0002t0069g0234	1	348	0.0029	-92	c.72 others(103): Show c.7277_*7368delTTAGTTCCCACCAACTTTCAGCCCCTCACCAGCA CAGGGCCTTTGCACTGCCTTGATCTGTTCCCAAGGACATCTGGGACCCAG TGGTGTGC	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding		2914		chr21	TogoVar
ADGRE3_chr19_14614117_14679844	14649543	TCTCCCCA others(85): Show TCTCCCCATCTCTCTCTTTCCATCTCTCTCCATCTCTTTCTCCTCATCTC TCTCTTTCGATCTCTGTCTTTCCATCTCTCTCTCCATCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp2 HG02818.hp1 others(3): Show HG02055.hp1 HG02572.hp2 HG02818.hp1 HG02922.hp1 HG03098.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0350 a0001c0001t0001g0351	6	369	0.0163	-92	c.697 others(109): Show c.697+1450_697+1541delGGAGAGATGGAGAGAGAGATGGAAAGAC AGAGATCGAAAGAGAGAGATGAGGAGAAAGAGATGGAGAGAGATGGAAAG AGAGAGATGGGGAG	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	7/15			chr19	TogoVar
ADGRE3_chr19_14614117_14679844	14649693	GATCTCTG others(85): Show GATCTCTGTCTTTCCATCTCTCTCTCCATCTCTCCCTCCCCATCTCTCTC TTTCCATCTCTCTCCATCTCTTTCTCCCCATCTCTCTCTTTCA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18950.hp1 NA18983.hp2 HG01261.hp1 NA18950.hp1 NA18983.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0001 a0002c0003t0001 a0001c0006t0001 a0002c0003t0001	a0001c0006t0001g0033 a0001c0006t0001g0053 a0002c0003t0001g0307 a0001c0006t0001g0033 a0001c0006t0001g0053 a0002c0003t0001g0307	3	368	0.0082	-92	c.697 others(109): Show c.697+1300_697+1391delTGAAAGAGAGAGATGGGGAGAAAGAGAT GGAGAGAGATGGAAAGAGAGAGATGGGGAGGGAGAGATGGAGAGAGAGAT GGAAAGACAGAGAT	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	7/15			chr19	TogoVar
AFF2_chrX_148495617_149005663	148709198	ACTTATTC others(85): Show ACTTATTCAATAAAATACTAAAAAAATTTTTTTAGGCTAATCAAATTTTG GATTGACTGCCTTGCCAAATGTGCCATTAATTAAATGCCTCCC	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0020 a0001c0005t0020	a0001c0005t0020g0127 a0001c0005t0020g0127	1	167	0.0060	-92	c.104 others(113): Show c.1041+46431_1041+46522delCTTATTCAATAAAATACTAAAAAA ATTTTTTTAGGCTAATCAAATTTTGGATTGACTGCCTTGCCAAATGTGCC ATTAATTAAATGCCTCCC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	3/20			chrX	TogoVar
AGBL1_chr15_86074871_86921156	86827320	CACACATA others(85): Show CACACATATATATATATATGTGTATATATATATATATATATATGTGTGTG TATATATATATATACACATATATATATACATATATATATGTGT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG02559.hp1 others(6): Show HG00544.hp2 HG00621.hp2 HG02559.hp1 HG02630.hp2 HG02717.hp1 HG03139.hp2 HG03540.hp2 NA18522.hp2 NA19012.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0015 a0018	a0001c0001 a0001c0004 a0001c0008 others(5): Show a0001c0001 a0001c0004 a0001c0008 a0001c0012 a0002c0005 a0003c0029 a0015c0054 a0018c0025	a0001c0001t0001 a0001c0001t0005 a0001c0004t0040 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0004t0040 a0001c0008t0002 a0001c0012t0041 a0002c0005t0006 a0003c0029t0018 a0015c0054t0010 a0018c0025t0065	a0001c0001t0001g0101 a0001c0001t0005g0110 a0001c0004t0040g0084 others(6): Show a0001c0001t0001g0101 a0001c0001t0005g0110 a0001c0004t0040g0084 a0001c0008t0002g0035 a0001c0012t0041g0062 a0002c0005t0006g0107 a0003c0029t0018g0007 a0015c0054t0010g0061 a0018c0025t0065g0022	9	106	0.0849	-92	c.315 others(113): Show c.3159-79765_3159-79674delCACATATATATATATATGTGTATA TATATATATATATATATGTGTGTGTATATATATATATACACATATATATA TACATATATATATGTGTA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AMTN_chr4_70513569_70537743	70516312	ATATATAT others(85): Show ATATATATATATACGTATATATATATATACGTATATATATACATATATAT GTATATATATACATGTATATATATACGTATATATATATATACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 NA18979.hp2 NA19076.hp1 HG06807.hp2 NA18979.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0006 a0001c0002t0001g0001 a0001c0002t0001g0062 a0001c0001t0001g0006 a0001c0002t0001g0001 a0001c0002t0001g0062	3	455	0.0066	-92	c.-23 others(103): Show c.-2357_-2266delTATATATATATACGTATATATATATATACGTATA TATATACATATATATGTATATATATACATGTATATATATACGTATATATA TATATACG	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding		2256		chr4	TogoVar
ANGEL1_chr14_76781009_76817882	76808435	CCATGAAT others(85): Show CCATGAATCTCCGGAGAATCACTCAGATGAGTGTGCTTAACAGTCACCTG AGGTTAAAGACATTTTTAGAGTAATTGCAGCCCTGGGTGTTTT	C C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	394	0.0025	-92	c.650 others(107): Show c.650-379_650-288delAAAACACCCAGGGCTGCAATTACTCTAAAA ATGTCTTTAACCTCAGGTGACTGTTAAGCACACTCATCTGAGTGATTCTC CGGAGATTCATG	ANGEL1	ENSG00000013523.11	transcript	ENST00000251089.8	protein_coding	2/9			chr14	TogoVar
ANGPT2_chr8_6494632_6568245	6567115	CGGTGCGG others(85): Show CGGTGCGGTGACCGTGTGTGATCGGCAAGGCCATGGATAGTGCCCGTGGC GTGGTGTCCATGTATGATCAGCAAGGCCATGGATAGTGCACGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00597.hp2 others(35): Show HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01099.hp1 HG01167.hp2 HG01169.hp1 HG01433.hp1 HG01891.hp1 HG02004.hp1 HG02040.hp1 HG02056.hp1 HG02155.hp2 HG02280.hp2 HG02523.hp2 HG02630.hp1 HG02738.hp1 HG02886.hp2 HG02896.hp2 HG03041.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03688.hp2 HG03927.hp2 HG04204.hp2 NA18951.hp1 NA18956.hp1 NA18997.hp1 NA19007.hp2 NA19070.hp1 NA19075.hp2 NA19078.hp2 NA19083.hp1 NA19088.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0001c0013 a0001c0015 a0001c0016 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0005c0029	a0001c0001t0008 a0001c0001t0009 a0001c0002t0005 others(21): Show a0001c0001t0008 a0001c0001t0009 a0001c0002t0005 a0001c0002t0009 a0001c0002t0011 a0001c0002t0014 a0001c0003t0008 a0001c0003t0031 a0001c0004t0020 a0001c0005t0021 a0001c0006t0009 a0001c0006t0032 a0001c0008t0021 a0001c0011t0033 a0001c0013t0019 a0001c0015t0030 a0001c0016t0028 a0001c0016t0068 a0001c0019t0014 a0001c0020t0006 a0001c0021t0005 a0001c0022t0012 a0001c0023t0006 a0005c0029t0009	a0001c0001t0008g0002 a0001c0001t0008g0004 a0001c0001t0008g0012 others(35): Show a0001c0001t0008g0002 a0001c0001t0008g0004 a0001c0001t0008g0012 a0001c0001t0008g0013 a0001c0001t0008g0020 a0001c0001t0008g0022 a0001c0001t0008g0025 a0001c0001t0008g0030 a0001c0001t0009g0028 a0001c0002t0005g0275 a0001c0002t0009g0003 a0001c0002t0009g0009 a0001c0002t0009g0019 a0001c0002t0011g0037 a0001c0002t0014g0010 a0001c0002t0014g0027 a0001c0003t0008g0021 a0001c0003t0031g0018 a0001c0004t0020g0005 a0001c0004t0020g0016 a0001c0005t0021g0026 a0001c0006t0009g0015 a0001c0006t0009g0029 a0001c0006t0032g0023 a0001c0008t0021g0011 a0001c0011t0033g0008 a0001c0013t0019g0329 a0001c0013t0019g0330 a0001c0013t0019g0331 a0001c0015t0030g0007 a0001c0016t0028g0250 a0001c0016t0068g0248 a0001c0019t0014g0017 a0001c0020t0006g0251 a0001c0021t0005g0249 a0001c0022t0012g0247 a0001c0023t0006g0246 a0005c0029t0009g0014	38	334	0.1138	-92	c.-42 others(103): Show c.-4273_-4182delACGTGCACTATCCATGGCCTTGCTGATCATACAT GGACACCACGCCACGGGCACTATCCATGGCCTTGCCGATCACACACGGTC ACCGCACC	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding		3871		chr8	TogoVar
ANKRD33B_chr5_10559070_10662816	10639224	GCGGGTGA others(85): Show GCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGC GCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTA	G G	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	322	0.0031	-92	c.637 others(109): Show c.637+1057_637+1148delCGGGTGACGTGGGGTTGCGCGGCGATGT TAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTT GCGCGGCGATGTTA	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3			chr5	TogoVar
ANO1_chr11_70073317_70194530	70194438	ATGGATGG others(85): Show ATGGATGGATGGATGGATGGTGGATGAATGGATGGATGGTAGATGAATGG ATGGATGGATGGATGAATGGATGGATGGATGGATGAGTGGATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0019 a0001c0011t0019	a0001c0011t0019g0252 a0001c0011t0019g0252	1	300	0.0033	-92	c.64 others(103): Show c.6435_*6526delTGGATGGATGGATGGATGGTGGATGAATGGATGG ATGGTAGATGAATGGATGGATGGATGGATGAATGGATGGATGGATGGATG AGTGGATG	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding		4909		chr11	TogoVar
ANTXR1_chr2_69008179_69254327	69096287	AGGGAGGA others(85): Show AGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAG GGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGAG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03209.hp2 HG02723.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0003 a0001c0009t0023 a0001c0001t0003 a0001c0009t0023	a0001c0001t0003g0150 a0001c0009t0023g0156 a0001c0001t0003g0150 a0001c0009t0023g0156	2	204	0.0098	-92	c.703 others(109): Show c.703+5371_703+5462delGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAA GGGAGGAAGGAGGG	ANTXR1	ENSG00000169604.21	transcript	ENST00000303714.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP42_chr11_100682288_100998941	100749398	TCCCGGAA others(85): Show TCCCGGAAGACTAAACCCTCAAACCAGGGATGTCTCACCTGGCCTGTCCC GGAAGGCTAACCCCTCAAACCAGGCATGTCTCGCCTGGCCTGC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0038 a0002c0002t0011g0038	1	284	0.0035	-92	c.155 others(111): Show c.155-20936_155-20845delACTAAACCCTCAAACCAGGGATGTCT CACCTGGCCTGTCCCGGAAGGCTAACCCCTCAAACCAGGCATGTCTCGCC TGGCCTGCCCCGGAAG	ARHGAP42	ENSG00000165895.19	transcript	ENST00000298815.13	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGAP8_chr22_44747575_44867784	44801011	GTGTGTGG others(85): Show GTGTGTGGGGGCCGCCTCTCCCCGCAGCTGTGTGGGGGCACCTCTCCCCG CAGCTGTCCATGTGTGAGGGGCACCTCTCCCCGCAGCTGTCCA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG04199.hp2 NA19085.hp2 HG00642.hp1 HG04199.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0001c0001 a0002c0011	a0001c0001t0001 a0001c0001t0003 a0002c0011t0007 a0001c0001t0001 a0001c0001t0003 a0002c0011t0007	a0001c0001t0001g0101 a0001c0001t0003g0122 a0002c0011t0007g0031 a0001c0001t0001g0101 a0001c0001t0003g0122 a0002c0011t0007g0031	3	386	0.0078	-92	c.80- others(106): Show c.80-1054_80-963delCGCCTCTCCCCGCAGCTGTGTGGGGGCACCT CTCCCCGCAGCTGTCCATGTGTGAGGGGCACCTCTCCCCGCAGCTGTCCA TGTGTGGGGGC	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ASB7_chr15_100597589_100656701	100620512	AATGGGAT others(85): Show AATGGGATGCATATAATAGCACATCTGTACAAACCCTGGTAGTCTTTATG GGATGCATATAATAGCACGTCTGTACAAACCCTGGTAGTCTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(80): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01515.hp1 HG01517.hp2 HG01993.hp2 HG02004.hp1 HG02071.hp2 HG02083.hp1 HG02148.hp1 HG02293.hp2 HG02559.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp2 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18965.hp1 NA18966.hp2 NA18971.hp1 NA18977.hp1 NA18981.hp1 NA18982.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA19010.hp2 NA19057.hp1 NA19063.hp2 NA19068.hp2 NA19074.hp2 NA19085.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0026 a0001c0008t0002	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(68): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0183 a0001c0001t0001g0197 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0201 a0001c0001t0002g0215 a0001c0001t0002g0259 a0001c0001t0002g0273 a0001c0001t0003g0002 a0001c0001t0003g0005 a0001c0001t0003g0122 a0001c0001t0003g0159 a0001c0001t0003g0235 a0001c0001t0003g0254 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0005g0001 a0001c0001t0005g0279 a0001c0001t0005g0304 a0001c0001t0006g0060 a0001c0001t0006g0061 a0001c0001t0014g0202 a0001c0001t0014g0203 a0001c0001t0017g0313 a0001c0001t0018g0066 a0001c0001t0022g0123 a0001c0001t0026g0029 a0001c0008t0002g0303	83	366	0.2268	-92	c.211 others(109): Show c.211+8107_211+8198delATCTGTACAAACCCTGGTAGTCTTTATG GGATGCATATAATAGCACGTCTGTACAAACCCTGGTAGTCTTTATGGGAT GCATATAATAGCAC	ASB7	ENSG00000183475.13	transcript	ENST00000332783.12	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
ASIC2_chr17_33008087_33298295	33269659	CTTCCTTC others(85): Show CTTCCTTCCTTCCTTCCCTCCCTCCCTCCTGCCTGCCTGCCTGCCTGCCT GCCTTTCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02280.hp1 HG02738.hp1 others(7): Show HG00733.hp1 HG02280.hp1 HG02738.hp1 HG03540.hp2 HG06807.hp2 NA18980.hp2 NA18999.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0019 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002	a0001c0001t0003g0040 a0001c0001t0003g0079 a0001c0001t0004g0068 others(7): Show a0001c0001t0003g0040 a0001c0001t0003g0079 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0006g0017 a0001c0001t0019g0232 a0001c0002t0002g0133 a0001c0004t0001g0159 a0001c0004t0001g0164 a0001c0004t0002g0167	10	238	0.0420	-92	c.708 others(111): Show c.708+21657_708+21748delAGAAGGAAGGAAGGAAGGAGGGAGGG AGGAAGGGAGGAAAGGCAGGCAGGCAGGCAGGCAGGCAGGAGGGAGGGAG GGAAGGAAGGAAGGAA	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ATP11A_chr13_112685038_112892168	112750273	CCCCTTCA others(85): Show CCCCTTCAGCCTCTCGTGAATTTCTGTCTTAGGGAAGGAGAGTCTCCATC CTCCCACGTGGGGACACGCCTGCTGAAGGATGCGGGTTTGAAT	C C	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19007.hp1 NA18971.hp2 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0191 a0001c0002t0012g0252 a0001c0002t0012g0191 a0001c0002t0012g0252	2	252	0.0079	-92	c.40- others(109): Show c.40-34858_40-34767delTTCAGCCTCTCGTGAATTTCTGTCTTAG GGAAGGAGAGTCTCCATCCTCCCACGTGGGGACACGCCTGCTGAAGGATG CGGGTTTGAATCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804119	TTCACCTC others(85): Show TTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCTCCTTCACCT CCCTCCCTGCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02976.hp1 HG01496.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0045 a0001c0001t0001 a0001c0014t0045	a0001c0001t0001g0122 a0001c0014t0045g0056 a0001c0001t0001g0122 a0001c0014t0045g0056	2	251	0.0080	-92	c.163 others(107): Show c.163-835_163-744delACCTCCCTCCCCCCATCCCCTCTCTGCCCT CCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTTCC CCTCCTTCCCTC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP2A3_chr17_3918873_3969437	3930115	TCCTGGAC others(85): Show TCCTGGACCCCTGACCCTCAGACACTGATACTGGAACCCCCAGCCCTCAG CCCCCACTCCTCGGCCCCAGCTCCAGGCCCTGCGCCCAGCCCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(124): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00673.hp2 HG01074.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02486.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG02970.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18966.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18993.hp1 NA18999.hp1 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0020 a0001c0028 a0001c0029 a0001c0031 a0001c0034 a0001c0038 a0001c0044	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0018 a0001c0001t0032 a0001c0001t0035 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0011 a0001c0002t0015 a0001c0002t0017 a0001c0002t0020 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0019 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0001c0004t0006 a0001c0004t0031 a0001c0008t0001 a0001c0008t0002 a0001c0008t0004 a0001c0008t0011 a0001c0009t0001 a0001c0010t0001 a0001c0010t0002 a0001c0011t0002 a0001c0011t0004 a0001c0020t0002 a0001c0028t0006 a0001c0029t0005 a0001c0031t0001 a0001c0034t0006 a0001c0038t0033 a0001c0044t0002	a0001c0001t0001g0017 a0001c0001t0001g0140 a0001c0001t0001g0186 others(117): Show a0001c0001t0001g0017 a0001c0001t0001g0140 a0001c0001t0001g0186 a0001c0001t0001g0214 a0001c0001t0001g0228 a0001c0001t0002g0119 a0001c0001t0002g0162 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0286 a0001c0001t0003g0171 a0001c0001t0003g0210 a0001c0001t0003g0213 a0001c0001t0004g0015 a0001c0001t0004g0223 a0001c0001t0004g0241 a0001c0001t0004g0255 a0001c0001t0004g0258 a0001c0001t0005g0206 a0001c0001t0005g0224 a0001c0001t0005g0226 a0001c0001t0005g0227 a0001c0001t0005g0246 a0001c0001t0005g0256 a0001c0001t0005g0263 a0001c0001t0006g0225 a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0006g0262 a0001c0001t0006g0274 a0001c0001t0012g0231 a0001c0001t0012g0242 a0001c0001t0018g0141 a0001c0001t0032g0251 a0001c0001t0035g0179 a0001c0002t0001g0131 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0145 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0182 a0001c0002t0002g0202 a0001c0002t0002g0204 a0001c0002t0002g0272 a0001c0002t0002g0285 a0001c0002t0002g0291 a0001c0002t0004g0138 a0001c0002t0004g0203 a0001c0002t0004g0260 a0001c0002t0004g0261 a0001c0002t0004g0278 a0001c0002t0008g0010 a0001c0002t0008g0137 a0001c0002t0008g0139 a0001c0002t0011g0301 a0001c0002t0015g0127 a0001c0002t0015g0128 a0001c0002t0017g0020 a0001c0002t0020g0205 a0001c0003t0001g0079 a0001c0003t0002g0075 a0001c0003t0002g0100 a0001c0003t0002g0102 a0001c0003t0003g0008 a0001c0003t0003g0070 a0001c0003t0003g0072 a0001c0003t0003g0073 a0001c0003t0003g0077 a0001c0003t0003g0078 a0001c0003t0003g0081 a0001c0003t0003g0111 a0001c0003t0004g0080 a0001c0003t0004g0099 a0001c0003t0005g0065 a0001c0003t0005g0076 a0001c0003t0005g0116 a0001c0003t0006g0050 a0001c0003t0019g0113 a0001c0004t0001g0021 a0001c0004t0001g0068 a0001c0004t0001g0089 a0001c0004t0001g0114 a0001c0004t0002g0067 a0001c0004t0002g0094 a0001c0004t0004g0086 a0001c0004t0004g0088 a0001c0004t0004g0092 a0001c0004t0004g0101 a0001c0004t0004g0103 a0001c0004t0004g0104 a0001c0004t0004g0106 a0001c0004t0005g0084 a0001c0004t0006g0087 a0001c0004t0006g0093 a0001c0004t0006g0110 a0001c0004t0031g0071 a0001c0008t0001g0019 a0001c0008t0002g0180 a0001c0008t0002g0181 a0001c0008t0004g0012 a0001c0008t0011g0305 a0001c0009t0001g0038 a0001c0010t0001g0029 a0001c0010t0001g0034 a0001c0010t0002g0046 a0001c0011t0002g0014 a0001c0011t0002g0173 a0001c0011t0002g0209 a0001c0011t0004g0208 a0001c0020t0002g0058 a0001c0028t0006g0066 a0001c0029t0005g0027 a0001c0031t0001g0095 a0001c0034t0006g0216 a0001c0038t0033g0299 a0001c0044t0002g0243	127	330	0.3848	-92	c.274 others(108): Show c.2744+94_2744+185delTGGGCTGGGCGCAGGGCCTGGAGCTGGGG CCGAGGAGTGGGGGCTGAGGGCTGGGGGTTCCAGTATCAGTGTCTGAGGG TCAGGGGTCCAGG	ATP2A3	ENSG00000074370.18	transcript	ENST00000397041.8	protein_coding	18/20			chr17	TogoVar
ATP2B4_chr1_203621832_203749081	203624200	GAGAAAGA others(85): Show GAGAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02109.hp1 others(11): Show HG01069.hp2 HG01071.hp1 HG02109.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 NA19030.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0001c0012 a0001c0023 a0002c0005	a0001c0001t0015 a0001c0001t0028 a0001c0001t0029 others(7): Show a0001c0001t0015 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0002t0013 a0001c0008t0031 a0001c0012t0032 a0001c0012t0033 a0001c0023t0060 a0002c0005t0059	a0001c0001t0015g0025 a0001c0001t0015g0026 a0001c0001t0015g0052 others(11): Show a0001c0001t0015g0025 a0001c0001t0015g0026 a0001c0001t0015g0052 a0001c0001t0028g0010 a0001c0001t0028g0013 a0001c0001t0029g0011 a0001c0001t0030g0027 a0001c0001t0030g0028 a0001c0002t0013g0009 a0001c0008t0031g0012 a0001c0012t0032g0054 a0001c0012t0033g0152 a0001c0023t0060g0019 a0002c0005t0059g0024	14	308	0.0455	-92	c.-34 others(103): Show c.-3483_-3392delAGAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAGG AAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAA	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding		2631		chr1	TogoVar
ATP8A2_chr13_25366974_26030851	25528754	TACATATG others(85): Show TACATATGCAACATGTGTATGCACACATATGCAACATGTGTATGCACACA TATGCAACATGTGTATGCACACATATGCAACATGTGTATGCAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp2 HG01175.hp1 others(20): Show HG00738.hp2 HG01070.hp2 HG01175.hp1 HG01261.hp1 HG01261.hp2 HG01981.hp2 HG02257.hp2 HG02280.hp1 HG02622.hp2 HG02896.hp2 HG02965.hp2 HG03098.hp1 HG03225.hp2 HG03490.hp1 HG03579.hp2 HG03654.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA19030.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0001c0009	a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 others(19): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0026 a0001c0001t0035 a0001c0001t0040 a0001c0001t0042 a0001c0001t0050 a0001c0001t0051 a0001c0002t0001 a0001c0002t0005 a0001c0002t0032 a0001c0002t0047 a0001c0002t0058 a0001c0008t0013 a0001c0008t0033 a0001c0008t0057 a0001c0009t0037	a0001c0001t0004g0040 a0001c0001t0004g0046 a0001c0001t0008g0073 others(20): Show a0001c0001t0004g0040 a0001c0001t0004g0046 a0001c0001t0008g0073 a0001c0001t0009g0065 a0001c0001t0010g0100 a0001c0001t0015g0082 a0001c0001t0017g0051 a0001c0001t0018g0041 a0001c0001t0026g0089 a0001c0001t0035g0043 a0001c0001t0040g0038 a0001c0001t0042g0059 a0001c0001t0050g0025 a0001c0001t0051g0053 a0001c0002t0001g0039 a0001c0002t0005g0034 a0001c0002t0032g0023 a0001c0002t0047g0076 a0001c0002t0058g0101 a0001c0008t0013g0074 a0001c0008t0033g0075 a0001c0008t0057g0070 a0001c0009t0037g0008	23	101	0.2277	-92	c.222 others(109): Show c.222-1222_222-1131delCACATATGCAACATGTGTATGCACACAT ATGCAACATGTGTATGCACACATATGCAACATGTGTATGCACACATATGC AACATGTGTATGCA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79374311	GAGCCCCG others(85): Show GAGCCCCGTCGGTCACTGGCTGGCCGGTCCCCTGACAGGAGGCGCTGAGC CCCGTCGGTCACTGGCTGGCCGGTCCCCTGACAGGAGGCGCTA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01123.hp1 HG02074.hp2 others(3): Show HG00735.hp1 HG01123.hp1 HG02074.hp2 NA18979.hp1 NA18992.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0039 others(3): Show a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0051	6	296	0.0203	-92	c.327 others(109): Show c.3274+302_3274+393delAAGCCCCGTCGGTCACTGGCTGGCCGGT CCCCTGACAGGAGGCGCTGAGCCCCGTCGGTCACTGGCTGGCCGGTCCCC TGACAGGAGGCGCT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	28/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AXIN1_chr16_282440_357723	292882	GCAGTGAG others(85): Show GCAGTGAGGAGGGCTGTGGGCTGGACGTCCCGGATGAGAGAAGGGCACAG TGAGGAGGGCTGTGGGCTGGACATCCAGGATGACAAGAGGACA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0079 a0001c0003t0013g0079	1	357	0.0028	-92	c.218 others(109): Show c.2186+514_2186+605delTGTCCTCTTGTCATCCTGGATGTCCAGC CCACAGCCCTCCTCACTGTGCCCTTCTCTCATCCGGGACGTCCAGCCCAC AGCCCTCCTCACTG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	8/10			chr16	TogoVar
B3GALT1_chr2_167288001_167879045	167875975	ATATATAT others(85): Show ATATATATACACGTATATATATATATACGTATATATATATATACGTATAT ATATATATACGTATATATATATATATACGTATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01346.hp1 HG02004.hp2 others(2): Show HG01081.hp1 HG01346.hp1 HG02004.hp2 NA18953.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 others(2): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 a0001c0001t0040 a0001c0001t0045	a0001c0001t0003g0112 a0001c0001t0008g0095 a0001c0001t0015g0026 others(2): Show a0001c0001t0003g0112 a0001c0001t0008g0095 a0001c0001t0015g0026 a0001c0001t0040g0086 a0001c0001t0045g0021	5	113	0.0442	-92	c.59 others(103): Show c.5956_*6047delTATATATACACGTATATATATATATACGTATATA TATATATACGTATATATATATATACGTATATATATATATATACGTATATA TATATATG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		1931		chr2	TogoVar
B3GNT3_chr19_17790138_17818576	17797072	CTTAGGTG others(85): Show CTTAGGTGGATTTCTAGGCCTCTCTGTGCCTCAATTTTCCTATCCATAAA AATGGAGCTAATGCAGCCCTACTTCTCAGCACACATATAGAGT	C C	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0055 a0002c0002t0007g0055	1	404	0.0025	-92	c.-51 others(109): Show c.-51+1871_-51+1962delGTGGATTTCTAGGCCTCTCTGTGCCTCA ATTTTCCTATCCATAAAAATGGAGCTAATGCAGCCCTACTTCTCAGCACA CATATAGAGTTTAG	B3GNT3	ENSG00000179913.11	transcript	ENST00000318683.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
BANP_chr16_87946434_88082316	87975811	CGTCATGG others(85): Show CGTCATGGAACCTTATCATGTTGTGTGTGTAATCCCCTGTGTGTGGCGTC ATGGAACCTTACCATGTGGTGTGTGTAATCCCCTGTGTGTGGT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	350	0.0029	-92	c.70+ others(105): Show c.70+641_70+732delTCATGTTGTGTGTGTAATCCCCTGTGTGTGGC GTCATGGAACCTTACCATGTGGTGTGTGTAATCCCCTGTGTGTGGTGTCA TGGAACCTTA	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BATF2_chr11_64982945_65001971	64983473	CATTTTAT others(85): Show CATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATATTTTATTTTATATTTTATTTTATATTTTATTTTATATTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	215	0.0047	-92	c.55 others(103): Show c.5564_*5655delAAATATAAAATAAAATATAAAATAAAATATAAAA TAAAATATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAAT	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		4471		chr11	TogoVar
BICD1_chr12_32101847_32388633	32346546	ATATATAT others(85): Show ATATATATATATATATATATATATATATATATATATACGTGTATATATAT ATATATATATATATATACGTGTATATATATATATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp2 HG02896.hp1 others(3): Show HG02055.hp1 HG02622.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0022 others(1): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0022 a0001c0001t0049	a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0019g0173 others(3): Show a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0019g0173 a0001c0001t0022g0100 a0001c0001t0022g0102 a0001c0001t0049g0242	6	288	0.0208	-92	c.276 others(111): Show c.2764+7588_2764+7679delTATATATATATATATACGTGTATATA TATATATATATATATATATACGTGTATATATATATATATATACGTGTATA TATATATATATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRAF_chr7_140714337_140929929	140871115	GCCTGTAG others(85): Show GCCTGTAGTACCAGGTACTCGGGAGGGTGACGCGGGAGAATGGCGTGAAT CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTACT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02698.hp2 HG01175.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0101 a0001c0001t0002g0092 a0001c0001t0002g0101	2	188	0.0106	-92	c.139 others(111): Show c.139-20995_139-20904delAGTAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGATTCACGCCATTCTCCCGCGTCACCCTCCCGAG TACCTGGTACTACAGG	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	1/19			chr7	TogoVar
BRAF_chr7_140725665_140929929	140871115	GCCTGTAG others(85): Show GCCTGTAGTACCAGGTACTCGGGAGGGTGACGCGGGAGAATGGCGTGAAT CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTACT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02698.hp1 HG01175.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0057 a0001c0001t0002 a0001c0001t0057	a0001c0001t0002g0096 a0001c0001t0057g0105 a0001c0001t0002g0096 a0001c0001t0057g0105	2	194	0.0103	-92	c.139 others(111): Show c.139-20995_139-20904delAGTAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGATTCACGCCATTCTCCCGCGTCACCCTCCCGAG TACCTGGTACTACAGG	BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	1/17			chr7	TogoVar
BRSK2_chr11_1384934_1467689	1394883	CTGGAGAT others(85): Show CTGGAGATGGGTCCTGGAGATGGGCCATGGAGATGGGTCCTGGAGATGGG TCCTGGAGATGGGTCCTGGAGATGGGCCCCTGGAGATGGGCCA	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0254 a0002c0002t0016g0254	1	358	0.0028	-92	c.91+ others(107): Show c.91+4534_91+4625delATGGAGATGGGTCCTGGAGATGGGTCCTGG AGATGGGTCCTGGAGATGGGCCCCTGGAGATGGGCCATGGAGATGGGTCC TGGAGATGGGCC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431158	GTCTGGTC others(85): Show GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0199 a0002c0002t0022g0199	1	355	0.0028	-92	c.92- others(107): Show c.92-4881_92-4790delTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTG AGCGTCTTCTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431299	GTCTGGTC others(85): Show GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0183 a0002c0002t0008g0183	1	358	0.0028	-92	c.92- others(107): Show c.92-4740_92-4649delTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
BRSK2_chr11_1384934_1467689	1433044	GTCTGGTC others(85): Show GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCCTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01975.hp1 HG02683.hp1 others(3): Show HG01943.hp1 HG01975.hp1 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG03942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0006 a0002c0002t0002 a0001c0001t0004 a0001c0001t0006 a0002c0002t0002	a0001c0001t0004g0171 a0001c0001t0004g0311 a0001c0001t0006g0222 others(3): Show a0001c0001t0004g0171 a0001c0001t0004g0311 a0001c0001t0006g0222 a0001c0001t0006g0236 a0001c0001t0006g0245 a0002c0002t0002g0315	6	358	0.0168	-92	c.92- others(107): Show c.92-2995_92-2904delTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCCTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
C1orf174_chr1_3884133_3905272	3891889	AGGGTGCT others(85): Show AGGGTGCTAGGATCAGGGCCCGGGTCTAGACACACACACGGGTGGGCGGG TGCTAGGATCAGAGCCCGGGTCTAGACACACACACGGGTGGGC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02027.hp2 HG01074.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0098 a0001c0001t0002g0083 a0001c0001t0001g0098 a0001c0001t0002g0083	2	347	0.0058	-92	c.129 others(107): Show c.129+902_130-833delGCCCACCCGTGTGTGTGTCTAGACCCGGGC TCTGATCCTAGCACCCGCCCACCCGTGTGTGTGTCTAGACCCGGGCCCTG ATCCTAGCACCC	C1orf174	ENSG00000198912.12	transcript	ENST00000361605.4	protein_coding	2/3			chr1	TogoVar
C1orf174_chr1_3884133_3905272	3891951	AGCCCGGG others(85): Show AGCCCGGGTCTAGACACACACACGGGTGGGCGGGTGCTAGGATCAGGGCC CGGGTCTAGACACACACACGGGTGGGCGGGTGCTAGGATCAGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00609.hp2 others(54): Show HG00099.hp1 HG00408.hp1 HG00609.hp2 HG00741.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01978.hp1 HG02004.hp2 HG02074.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02698.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp1 HG03669.hp1 HG03688.hp1 HG03831.hp1 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18973.hp2 NA18979.hp2 NA18990.hp1 NA18991.hp1 NA18997.hp1 NA19001.hp1 NA19054.hp1 NA19066.hp2 NA19074.hp2 NA19079.hp2 NA19083.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0009 a0006c0013 a0001c0001 a0005c0009 a0006c0013	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0005c0009t0002 a0005c0009t0018 a0006c0013t0002	a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0012 others(18): Show a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0035 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0084 a0001c0001t0004g0036 a0001c0001t0004g0040 a0001c0001t0006g0037 a0001c0001t0007g0102 a0001c0001t0009g0021 a0005c0009t0002g0082 a0005c0009t0018g0107 a0006c0013t0002g0076	57	382	0.1492	-92	c.129 others(107): Show c.129+840_130-895delCCTGATCCTAGCACCCGCCCACCCGTGTGT GTGTCTAGACCCGGGCCCTGATCCTAGCACCCGCCCACCCGTGTGTGTGT CTAGACCCGGGC	C1orf174	ENSG00000198912.12	transcript	ENST00000361605.4	protein_coding	2/3			chr1	TogoVar
C1orf174_chr1_3884133_3905272	3892441	CGGGTGCT others(85): Show CGGGTGCTAGGATCAGGGCCCGGGTCTAGACACACACACGGGTGGGAGGG TGCTAGGATCAGGGCCCGGGTCTAGACACACACACGGGTGGGA	C C	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18943.hp2 NA18945.hp2 others(4): Show NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18970.hp1 NA19011.hp1 NA19012.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0085 a0001c0001t0002g0109 a0001c0001t0002g0014 a0001c0001t0002g0085 a0001c0001t0002g0109	7	420	0.0167	-92	c.129 others(107): Show c.129+350_129+441delTCCCACCCGTGTGTGTGTCTAGACCCGGGC CCTGATCCTAGCACCCTCCCACCCGTGTGTGTGTCTAGACCCGGGCCCTG ATCCTAGCACCC	C1orf174	ENSG00000198912.12	transcript	ENST00000361605.4	protein_coding	2/3			chr1	TogoVar
C2CD4C_chr19_400445_414147	404223	GGGGGACG others(85): Show GGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGTCCTGTCCT GAGGGGTCTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02602.hp2 NA18945.hp2 HG02129.hp2 HG02602.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0003 a0001c0002t0011 a0001c0001t0014 a0001c0002t0003 a0001c0002t0011	a0001c0001t0014g0009 a0001c0002t0003g0002 a0001c0002t0011g0007 a0001c0001t0014g0009 a0001c0002t0003g0002 a0001c0002t0011g0007	3	318	0.0094	-92	c.27 others(103): Show c.2781_*2872delACACCCCCTCAGGGCAGGACCCCGTCCCCCCCTC AGACCCCTCAGGACAGGACCCGTCCCCCCCACACCCCTCAGGGCAGGACC CCGTCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1221		chr19	TogoVar
C2CD4C_chr19_400445_414147	404577	GGACGGGG others(85): Show GGACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGAGACGGGTCCTGCCCTG AGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTCTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG02976.hp1 HG03225.hp1 others(1): Show HG00140.hp1 HG02976.hp1 HG03225.hp1 NA19240.hp1	a0001 a0007 a0010 a0001 a0007 a0010	a0001c0001 a0007c0015 a0010c0008 a0001c0001 a0007c0015 a0010c0008	a0001c0001t0094 a0001c0001t0107 a0007c0015t0009 others(1): Show a0001c0001t0094 a0001c0001t0107 a0007c0015t0009 a0010c0008t0040	a0001c0001t0094g0077 a0001c0001t0107g0088 a0007c0015t0009g0143 others(1): Show a0001c0001t0094g0077 a0001c0001t0107g0088 a0007c0015t0009g0143 a0010c0008t0040g0064	4	316	0.0127	-92	c.24 others(103): Show c.2427_*2518delTCAGACCCCTCAGGGCAGGACCCCATCCCCCCTC CACACCCCTCAGGGCAGGACCCGTCTCCCCCTCAGACCCCTCAGGGCAGG ACCCCGTC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		867		chr19	TogoVar

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