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
CXorf51A_chrX_146809106_146819744	146812215	G G	GTGTGTAT others(207): Show GTGTGTATATACGTATATACACATGTGTATATACACACATATATACACAC ACATATGTACACATATATGTGTGTATATACGTATATACACATGTGTATAT ACGTATATACACATATATGTATATACACACATATATACACATATATGTAT ATACACACATATACACACATATATGTATATACACACATATACACACATAT ATGTACACATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	264	0.0038	214	c.19 others(225): Show c.1991_*1992insTATATATGTGTACATATATGTGTGTATATGTGTG TATATACATATATGTGTGTATATGTGTGTATATACATATATGTGTATATA TGTGTGTATATACATATATGTGTATATACGTATATACACATGTGTATATA CGTATATACACACATATATGTGTACATATGTGTGTGTATATATGTGTGTA TATACACATGTGTATATACGTATATACACA	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1890		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812215	G G	GTGTGTAT others(207): Show GTGTGTATATACGTATATACACATGTGTATATACACACATATATACACAC ACATATGTACACATATATGTGTGTATATACGTATATACACATGTGTATAT ACGTATATACACATATATGTATATACACACATATATACACATATATGTAT ATACACACATATACACACATATATGTATATACACACATATACACACATAT ATGTACACATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	214	c.19 others(225): Show c.1907_*1908insTGTGTATATACGTATATACACATGTGTATATACA CACATATATACACACACATATGTACACATATATGTGTGTATATACGTATA TACACATGTGTATATACGTATATACACATATATGTATATACACACATATA TACACATATATGTATATACACACATATACACACATATATGTATATACACA CATATACACACATATATGTACACATATATA	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1805		chrX	TogoVar
CYP4F11_chr19_15907377_15939529	15933096	G G	GTGAGCGG others(207): Show GTGAGCGGGGAGAGGAAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGG CAGAGGAGTGAGTGAGCGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGA GTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGCA GAGGAGTGAGTGAGCGGCAGAGGAGTGAGTGAGCGGGCAGAGGAATGAGT GAGCGGGCAGAGGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0015 a0002c0001t0015	a0002c0001t0015g0182 a0002c0001t0015g0182	1	386	0.0026	214	c.198 others(231): Show c.198+1114_198+1115insTTCCTCTGCCCGCTCACTCATTCCTCTG CCCGCTCACTCACTCCTCTGCCGCTCACTCACTCCTCTGCCGCTCACTCA CTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTGCCGCTCACTCACTCCTCTGCCCGCTCACTCAC TCCTCTGCCCGCTCACTCACTTCCTCTCCCCGCTCA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DCAF10_chr9_37795797_37872664	37808748	A A	ATATATAA others(207): Show ATATATAAAGTATATATTTATATAAATATATATTATATATAATATATATT TATATAAATATATATTATATATAAATATATTTATATAAATATATATTTAT AAAATATATTATATATAATATATATTATATATAATATATATTATATAAAT ATATATTATATAAAATATATATTTATATAAAAATGTATTATATTATATAT TATATAAATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01168.hp1 HG01192.hp2 others(10): Show HG01081.hp1 HG01168.hp1 HG01192.hp2 HG01515.hp1 HG03654.hp2 HG03831.hp1 HG04199.hp1 NA18951.hp1 NA18968.hp2 NA18972.hp1 NA18978.hp2 NA19091.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 others(1): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 a0001c0001t0061	a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0023 others(10): Show a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0029 a0001c0001t0005g0031 a0001c0001t0005g0038 a0001c0001t0009g0022 a0001c0001t0028g0027 a0001c0001t0028g0028 a0001c0001t0061g0030	13	356	0.0365	214	c.539 others(231): Show c.539+7345_539+7346insTATAAAGTATATATTTATATAAATATAT ATTATATATAATATATATTTATATAAATATATATTATATATAAATATATT TATATAAATATATATTTATAAAATATATTATATATAATATATATTATATA TAATATATATTATATAAATATATATTATATAAAATATATATTTATATAAA AATGTATTATATTATATATTATATAAATATATATTA	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCAF10_chr9_37795797_37872664	37808748	A A	ATATATAA others(207): Show ATATATAAAGTATATATTTATATAAATATTATTATATATAATATATATTT ATATAAATATATATTATATATAAATATATTTATATAAATATATATTTATA AAATATATTATATATAATATATATTATATATAAATATATATTATATAAAT ATATATTATATAAAATATATATTTATATAAAAATGTATTATATTATATAT TATATAAATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0032 a0001c0001t0015g0032	1	356	0.0028	214	c.539 others(231): Show c.539+7345_539+7346insTATAAAGTATATATTTATATAAATATTA TTATATATAATATATATTTATATAAATATATATTATATATAAATATATTT ATATAAATATATATTTATAAAATATATTATATATAATATATATTATATAT AAATATATATTATATAAATATATATTATATAAAATATATATTTATATAAA AATGTATTATATTATATATTATATAAATATATATTA	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(207): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACATATTATGATATATAATATATAATTATATATTATATATTAT ATGATATACATATATATTATATACATATAATATATACATATATTATATGC ATATAATATATACATATATTATATGCATATAATATATACATATATTATAT GCATATAATATATAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02165.hp2 HG00642.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0003 a0001c0001t0022	a0001c0001t0003g0010 a0001c0001t0022g0153 a0001c0001t0003g0010 a0001c0001t0022g0153	2	280	0.0071	214	c.126 others(231): Show c.126+1125_126+1126insGTATATATTATATGCATATAATATATGT ATATATTATATGCATATAATATATGTATATATTATATGCATATAATATAT GTATATATTATATGTATATAATATATATGTATATCATATAATATATAATA TATAATTATATATTATATATCATAATATGTAATATATAATTATATATTAC ATATATATATTTTAATATATATAATATATAATATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(207): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACATATTATGATATATAATATATAATTATATATTATATATTAT ATGATATACATATATATTATATGCATATAATATATACATATATTATATGC ATATAATATATACATATATTATATGCATATAATATATACATATATTATAT GCATATAATATATAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG00642.hp1 others(57): Show HG00423.hp1 HG00609.hp2 HG00642.hp1 HG00733.hp1 HG00741.hp1 HG01070.hp1 HG01123.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01496.hp1 HG01516.hp2 HG02027.hp1 HG02056.hp1 HG02083.hp1 HG02135.hp1 HG02155.hp1 HG02293.hp1 HG02523.hp1 HG02647.hp1 HG02698.hp2 HG02886.hp1 HG03098.hp1 HG03492.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18946.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18964.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp2 NA18982.hp1 NA18993.hp1 NA19000.hp1 NA19002.hp1 NA19011.hp2 NA19058.hp1 NA19062.hp2 NA19083.hp2 NA20129.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(12): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0015 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0047 a0003c0005t0017	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0159 others(56): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0267 a0001c0001t0005g0012 a0001c0001t0011g0164 a0001c0001t0011g0191 a0001c0001t0011g0220 a0001c0001t0015g0271 a0001c0001t0015g0272 a0001c0001t0015g0273 a0001c0001t0021g0222 a0001c0001t0024g0157 a0001c0001t0024g0158 a0001c0001t0025g0168 a0001c0001t0038g0166 a0001c0001t0039g0185 a0001c0001t0040g0183 a0001c0001t0041g0182 a0001c0001t0042g0203 a0001c0001t0045g0162 a0001c0001t0047g0212 a0003c0005t0017g0210	60	280	0.2143	214	c.126 others(231): Show c.126+1125_126+1126insGTATATATTATATGCATATAATATATGT ATATATTATATGCATATAATATATGTATATATTATATGCATATAATATAT GTATATATTATATGCATATAATATATATGTATATCATATAATATATAATA TATAATTATATATTATATATCATAATATGTAATATATAATTATATATTAC ATATATATATTTTAATATATATAATATATAATATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DNAH10_chr12_123757301_123940714	123912095	G G	GGGGGGGG others(207): Show GGGGGGGGTCTGTCCCGGGGGGTCTGTCCCGGGGGGGTCTGTCCTGGGGG GTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCTGGGGGGTCTGT CCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCT GGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGCGGGGGGGTCTGTCCTG GGGGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0006 a0006	a0006c0083 a0006c0083	a0006c0083t0001 a0006c0083t0001	a0006c0083t0001g0157 a0006c0083t0001g0157	1	170	0.0059	214	c.101 others(233): Show c.10135-996_10135-995insTCTGTCCCGGGGGGTCTGTCCCGGGG GGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTC TGTCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTG GGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGC GGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DPEP1_chr16_89608642_89643433	89618964	C C	CTCACTGC others(207): Show CTCACTGCCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTC CCCTCCCTGCAGCTCCCTGCCCCCCCCTGCTCCCCTCCCTGCAGCTCCCT GCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCT GCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTG CTCCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	250	0.0040	214	c.-10 others(233): Show c.-107+5245_-107+5246insTCACTGCCCCCCCCCGCTCCCCTCCC TGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTC CCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCT CCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89618964	C C	CTCACTGC others(207): Show CTCACTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTG CCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCT GCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTG CTCCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	250	0.0040	214	c.-10 others(233): Show c.-107+5245_-107+5246insTCACTGCCCCCCCCGCTCCCCTCCCT GCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCT GCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCC CTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCT CCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619124	C C	CCCCCCCC others(207): Show CCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCC CTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCT GCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTC CCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCTCCCTGCTCCCT CCCTGCAGCCCCCTG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0075 a0002c0002t0003g0075	1	250	0.0040	214	c.-10 others(233): Show c.-107+5411_-107+5412insCTGCTCCCCTCCCTGCAGCTCCCTGC CCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGC AGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCC TGCCCTCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634545	C C	CCCTTCCT others(207): Show CCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTT CCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTT TCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTT CCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTC CCTTCCTTCTCCTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	250	0.0040	214	c.105 others(231): Show c.105-1361_105-1360insTTCCTTCTCCTTTCCCCTTCCTTCTCCT TTCCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCTCC TTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTCCT TTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPP6_chr7_154047398_154899285	154779067	T T	TCACCTCC others(207): Show TCACCTCCACGACCACCACCACCATCATCACCTCCACCACCATCACCACT ATCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCACCCCC ACCGTCACCTCCACCACCACCTCCATTACCTCCACAACTTCTACCACCAC CACCCCCACCACCACCAGCACCACTATCACCACTATCACCACCACCCCCA CCATCACCTCCACAC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0018 a0002c0013t0018	a0002c0013t0018g0026 a0002c0013t0018g0026	1	38	0.0263	214	c.113 others(233): Show c.1136+6133_1136+6134insCGACCACCACCACCATCATCACCTCC ACCACCATCACCACTATCACCACCAACCCATCATCACCACCTCCACCACC ACCACCATCACCCCCACCGTCACCTCCACCACCACCTCCATTACCTCCAC AACTTCTACCACCACCACCCCCACCACCACCAGCACCACTATCACCACTA TCACCACCACCCCCACCATCACCTCCACACCACCTCCA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(207): Show ATATATACTATATATATAGTATATATATACTATATATATAGTATATATAT AGTATATATATAGTATATATATATAGTATATATATAGTATATATATAGTA TATATATACTATATATATAGTATATATATAGTATATATATAGTATATATA TAGTGTATATATATAGTATATATATAGTATATATATAGTATATATATAGT GTATATATATAGTGT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0056 a0001c0004t0007g0056	1	316	0.0032	214	c.355 others(233): Show c.355-25704_355-25703insTATATACTATATATATAGTATATATA TACTATATATATAGTATATATATAGTATATATATAGTATATATATATAGT ATATATATAGTATATATATAGTATATATATACTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTGTATATATATAGTATATATATAG TATATATATAGTATATATATAGTGTATATATATAGTGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAG others(207): Show ATATATAGTATATATATAGTATATATATACTATATATATAGTATATATAT AGTATATATATAGTATATATATATAGTATATATATAGTATATATATAGTA TATATATACTATATATATAGTATATATATAGTATATATATAGTATATATA TAGTGTATATATATAGTATATATATAGTATATATATAGTATATATATAGT GTATATATATAGTGT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0059 a0001c0007t0006g0059	1	316	0.0032	214	c.355 others(233): Show c.355-25704_355-25703insTATATAGTATATATATAGTATATATA TACTATATATATAGTATATATATAGTATATATATAGTATATATATATAGT ATATATATAGTATATATATAGTATATATATACTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTGTATATATATAGTATATATATAG TATATATATAGTATATATATAGTGTATATATATAGTGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DTD1_chr20_18583054_18771644	18695427	C C	CCCCCTCC others(207): Show CCCCCTCCCCTCCCCTCCCTGTCCCTTCCTCCCTCCCGCCCTCCCTTCCT TCCTCCCTTCCGTCCTTCCTTCCTTCCTTTTCTTTCCCTCCCTCCTTCCT TTACTTCTTCCCTTCCCTTGCTTTCCTTCCCCTTCCCTTTCCTTCCCTTT CCCTTCCCCTTCTTCCCCTTCCCCTTCTTCCCCTTCCTGTTCCTCTTCTT CCCCTTCCCCTTCTT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	398	0.0025	214	c.478 others(233): Show c.478-48668_478-48667insCCCCTCCCCTCCCTGTCCCTTCCTCC CTCCCGCCCTCCCTTCCTTCCTCCCTTCCGTCCTTCCTTCCTTCCTTTTC TTTCCCTCCCTCCTTCCTTTACTTCTTCCCTTCCCTTGCTTTCCTTCCCC TTCCCTTTCCTTCCCTTTCCCTTCCCCTTCTTCCCCTTCCCCTTCTTCCC CTTCCTGTTCCTCTTCTTCCCCTTCCCCTTCTTCCCCT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DYM_chr18_49031387_49465645	49440994	A A	ATTTATAT others(207): Show ATTTATATAATATATGACTATATATTATATATTTATATAATATATGACTA TATATTATATATTTATATAATATATGACTATATATTATATATTTATATAA TATATGACTATATATTATATATTTATATAATATATGACTATATATTATAT ATTTATATAATATATTTATATAAATACATTATATTTTATATATTTATATA AATACATTATATTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02717.hp1 HG02895.hp1 others(1): Show HG01169.hp1 HG02717.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0115 a0001c0001t0004g0116 a0001c0001t0004g0117 others(1): Show a0001c0001t0003g0115 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0132	4	290	0.0138	214	c.-53 others(233): Show c.-53-10548_-53-10547insAAAATATAATGTATTTATATAAATAT ATAAAATATAATGTATTTATATAAATATATTATATAAATATATAATATAT AGTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATA TATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATAT TATATAAATATATAATATATAGTCATATATTATATAAA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EDDM13_chr19_56267748_56315454	56302522	C C	CTCCCTCT others(207): Show CTCCCTCTTCTTCCTCCCCGTTCCTCCCTCCCTCCCCCCTTCCTTTTCTT CCTCCCTCCCTCCCCCCTTCCTTTTCTTCCTCCCCCTTTTCTTCCTCTCC CTCTTCTTCCTCTCCCTCTTCCTCCCTCCCTCCTCCTCCCTTCCTTTTCT TCCCCCCCTCCCTGTTCTTTCCTTCCTCCTTCCCTCCTTCTCTCTCCTTC CTTCTCTTTCCTCCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	396	0.0025	214	c.423 others(229): Show c.423+433_423+434insTTCTTCCTCCCCGTTCCTCCCTCCCTCCCC CCTTCCTTTTCTTCCTCCCTCCCTCCCCCCTTCCTTTTCTTCCTCCCCCT TTTCTTCCTCTCCCTCTTCTTCCTCTCCCTCTTCCTCCCTCCCTCCTCCT CCCTTCCTTTTCTTCCCCCCCTCCCTGTTCTTTCCTTCCTCCTTCCCTCC TTCTCTCTCCTTCCTTCTCTTTCCTCCTTCCCTC	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
EIPR1_chr2_3183970_3382818	3316108	C C	CTCACCAC others(207): Show CTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCC CCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATACACACCCC CACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATACACACCCCCACCACCATCACCACCATCCCCATCCACAG CCCCTACCACCACCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03471.hp2 HG02257.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0160 a0001c0001t0001g0161	2	250	0.0080	214	c.259 others(233): Show c.259+21908_259+21909insTGGTGGTGGTAGGGGCTGTGGATGGG GATGGTGGTGATGGTGGTGGGGGTGTGTATGGGGATGGTGGTGATGGTGG TGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGGGGTGTGTAT GGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTG ATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ERICH1_chr8_659200_736224	696218	G G	GCCTGTGC others(207): Show GCCTGTGCTGGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCATCAG CCTGCGCCTGTGCTGGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCC ATCAGCCTGCACTCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCA TCAGCCTGCGCCTGTGCTGGCTCCTCTCACCCTCCACTCCTCTCCTTCCT CCCCATCAGCCTGCA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	378	0.0027	214	c.170 others(231): Show c.170-3607_170-3606insTGCAGGCTGATGGGGAGGAAGGAGAGGA GTGGAGGGTGAGAGGAGCCAGCACAGGCGCAGGCTGATGGGGAGGAAGGA GAGGAGTGGAGGGTGAGAGGAGCGAGTGCAGGCTGATGGGGAGGAAGGAG AGGAGTGGAGGGTGAGAGGAGCCAGCACAGGCGCAGGCTGATGGGGAGGA AGGAGAGGAGTGGAGGGTGAGAGGAGCCAGCACAGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	696228	G G	GCTCCTCT others(207): Show GCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCACCTG TGCTGGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCATCAACCTGC ACCTGTGCTGGCTCCTCTCACCCTCCCTTCCTCTCCTTCCTCCCCATCAG CCTGCACCTGTGCTCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCC ATCAGCCTGCACTCA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01891.hp1 others(4): Show HG01069.hp2 HG01071.hp2 HG01891.hp1 HG02451.hp1 HG03139.hp1 HG03225.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0208 a0001c0001t0001g0209 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233	7	378	0.0185	214	c.170 others(231): Show c.170-3617_170-3616insTGAGTGCAGGCTGATGGGGAGGAAGGAG AGGAGTGGAGGGTGAGAGGAGCGAGCACAGGTGCAGGCTGATGGGGAGGA AGGAGAGGAAGGGAGGGTGAGAGGAGCCAGCACAGGTGCAGGTTGATGGG GAGGAAGGAGAGGAGTGGAGGGTGAGAGGAGCCAGCACAGGTGCAGGCTG ATGGGGAGGAAGGAGAGGAGTGGAGGGTGAGAGGAG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
EXOC2_chr6_480154_698139	676294	T T	TCTGAGGT others(207): Show TCTGAGGTTCCCCATACTCTTCAACATTACGGAAAGGACAGTTTCCTCTG GAGACTGCGGTTTCCCATACTCTTCAACATTACAGAAAGGACAGGTTCCT CTGGAGACTCTGAGGTTCCCCATACTCTTCAACATTACGGAAAGGACAGC CTCCTCTGGCAACTGCGGTTCCCCATACTCTTCAGCATTACAGAAAGGAC AGGTTCCTCTGGCGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02886.hp2 HG01884.hp1 HG02109.hp2 HG02886.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0011 a0002c0005t0011 a0001c0001t0011 a0002c0005t0011	a0001c0001t0011g0267 a0001c0001t0011g0268 a0002c0005t0011g0266 a0001c0001t0011g0267 a0001c0001t0011g0268 a0002c0005t0011g0266	3	272	0.0110	214	c.-44 others(233): Show c.-44+16724_-44+16725insTCGCCAGAGGAACCTGTCCTTTCTGT AATGCTGAAGAGTATGGGGAACCGCAGTTGCCAGAGGAGGCTGTCCTTTC CGTAATGTTGAAGAGTATGGGGAACCTCAGAGTCTCCAGAGGAACCTGTC CTTTCTGTAATGTTGAAGAGTATGGGAAACCGCAGTCTCCAGAGGAAACT GTCCTTTCCGTAATGTTGAAGAGTATGGGGAACCTCAG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
FANCD2_chr3_10021437_10106932	10070476	G G	GGCCAGCC others(207): Show GGCCAGCCACCCTGTCCGGGAGGGAGGTGGGGGGCTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGTCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	242	0.0041	214	c.249 others(233): Show c.2495-2388_2495-2387insACCCTGTCCGGGAGGGAGGTGGGGGG CTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCAGCC	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	26/43		INFO_REALIGN_3_PRIME	chr3	TogoVar
FANCD2_chr3_10021437_10106932	10070476	G G	GGCCAGCC others(207): Show GGCCAGCCACCCTGTCCGGGAGGGAGGTGGGGGGCTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGTCAGTCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02602.hp1 HG02738.hp2 HG02572.hp2 HG02602.hp1 HG02738.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0005c0008t0001 a0001c0001t0001 a0001c0001t0003 a0005c0008t0001	a0001c0001t0001g0107 a0001c0001t0003g0140 a0005c0008t0001g0019 a0001c0001t0001g0107 a0001c0001t0003g0140 a0005c0008t0001g0019	3	242	0.0124	214	c.249 others(233): Show c.2495-2388_2495-2387insACCCTGTCCGGGAGGGAGGTGGGGGG CTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGTCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCAGCC	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	26/43		INFO_REALIGN_3_PRIME	chr3	TogoVar
FANCD2_chr3_10021437_10106932	10070476	G G	GGCCAGCC others(207): Show GGCCAGCCACCCTGTCCGGGAGGGAGGTGGGGGGCTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGTCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGGTCA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02145.hp1 HG02258.hp1 others(1): Show HG01261.hp2 HG02145.hp1 HG02258.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0002 a0001c0001t0001 a0001c0001t0003 a0001c0003t0002	a0001c0001t0001g0030 a0001c0001t0001g0108 a0001c0001t0003g0148 others(1): Show a0001c0001t0001g0030 a0001c0001t0001g0108 a0001c0001t0003g0148 a0001c0003t0002g0124	4	242	0.0165	214	c.249 others(233): Show c.2495-2388_2495-2387insACCCTGTCCGGGAGGGAGGTGGGGGG CTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCAGCC	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	26/43		INFO_REALIGN_3_PRIME	chr3	TogoVar
FER1L6_chr8_123846987_124125061	123856188	T T	TATGTGTA others(207): Show TATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATA TACATATGTGTATGAGATATATGTATATACATACGTGTATGAGATATATG TATATACATACGTGTATGAGATATATGTATATACATATGTGTATGAGATA TATGTATATACATATGTGTATGAGATATATGTATATACATATGTGTATGA GATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0004 a0004	a0004c0064 a0004c0064	a0004c0064t0003 a0004c0064t0003	a0004c0064t0003g0065 a0004c0064t0003g0065	1	196	0.0051	214	c.-8+ others(229): Show c.-8+4057_-8+4058insATGTGTATGAGATATATGTATATACATACG TGTATGAGATATATGTATATACATACGTGTATGAGATATATGTATATACA TATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATA TACATATGTGTATGAGATATATGTATATACATGTGTATGAGATATATGTA TATACATATGTGTATGAGATATATGTATATACAT	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr8	TogoVar
FHIT_chr3_59742277_61256452	60860431	T T	TCATATGT others(207): Show TCATATGTATACATGACATACATCATATGTATACATGACATACATCATAT GTATACATGACATACATCATATGTATACATGACATACATCATATGTATAC ATGACATACATCATATGTATACATGACATACATCATATGTATACATGACA TACATCATATGTATACATGACATACATCATATGTATACATGACATACATC ATATGTATACATGAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0032	1	46	0.0217	214	c.-11 others(235): Show c.-110-38421_-110-38420insGTCATGTATACATATGATGTATGT CATGTATACATATGATGTATGTCATGTATACATATGATGTATGTCATGTA TACATATGATGTATGTCATGTATACATATGATGTATGTCATGTATACATA TGATGTATGTCATGTATACATATGATGTATGTCATGTATACATATGATGT ATGTCATGTATACATATGATGTATGTCATGTATACATATG	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FIGN_chr2_163597611_163741008	163660791	G G	GTATACAC others(207): Show GTATACACGTATACATATATATGTATATACGTATACATATATATGTATAT ACATATACATATATATGTATATACATATACATATATATGTATATACATAT ACATATATATGTATATACATATATATGTATATACATATACATATATATGT ATATACATATATATGTATACATATACATATACATATATATGTATATACAT ATACATATATATACA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0159 a0001c0001t0005g0159	1	266	0.0038	214	c.26- others(231): Show c.26-48986_26-48985insTGTATATATATGTATATGTATATACATA TATATGTATATGTATATGTATACATATATATGTATATACATATATATGTA TATGTATATACATATATATGTATATACATATATATGTATATGTATATACA TATATATGTATATGTATATACATATATATGTATATGTATATACATATATA TGTATACGTATATACATATATATGTATACGTGTATA	FIGN	ENSG00000182263.14	transcript	ENST00000333129.4	protein_coding	2/2			chr2	TogoVar
FIGN_chr2_163597611_163741008	163660791	G G	GTATATAC others(207): Show GTATATACGTATACATATATATGTATATACGTATACATATATATGTATAT ACATATACATATATATGTATATACATATACATATATATGTATATACATAT ACATATATATGTATATACATATATATGTATATACATATACATATATATGT ATATACATATATATGTATACATATACATATACATATATATGTATATACAT ATACATATATATACA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0153 a0001c0001t0005g0153	1	266	0.0038	214	c.26- others(231): Show c.26-48986_26-48985insTGTATATATATGTATATGTATATACATA TATATGTATATGTATATGTATACATATATATGTATATACATATATATGTA TATGTATATACATATATATGTATATACATATATATGTATATGTATATACA TATATATGTATATGTATATACATATATATGTATATGTATATACATATATA TGTATACGTATATACATATATATGTATACGTATATA	FIGN	ENSG00000182263.14	transcript	ENST00000333129.4	protein_coding	2/2			chr2	TogoVar
FNDC10_chr1_1593012_1605135	1595101	T T	TGAGACAG others(207): Show TGAGACAGAGACAGAGACAGAGAGGCAGACAGAGAGAGACAGACAGACAG ACAGACACAGAGAGAGCAGAACAGGGACAGACAGAGAGAGAGAGACAGAC AGAGAGCAGAACAGGGAGAGACAAAGAGACAGAGAGAGAGAGAGACAGAG AGAGGCAGACAGAGACAGAGAGACAGACAGACACAGAGCAGAACAGGGAG AGACAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	406	0.0025	214	c.42 others(225): Show c.4233_*4234insTCTCTCTCTCTGTCTCTCCCTGTTCTGCTCTGTG TCTGTCTGTCTCTCTGTCTCTGTCTGCCTCTCTCTGTCTCTCTCTCTCTC TGTCTCTTTGTCTCTCCCTGTTCTGCTCTCTGTCTGTCTCTCTCTCTCTG TCTGTCCCTGTTCTGCTCTCTCTGTGTCTGTCTGTCTGTCTGTCTCTCTC TGTCTGCCTCTCTGTCTCTGTCTCTGTCTC	FNDC10	ENSG00000228594.4	transcript	ENST00000422725.4	protein_coding		2910		chr1	TogoVar
FOXP1_chr3_70949708_71588728	71396969	T T	TATATATA others(207): Show TATATATATATACATATATATATGTGTATATATATATATACACACATATA TATATGTGTATATATATATACACATATATATGTGTATATATATACATATA TATGTGTATATATATACACATATATATATGTGTATATATATACATATATA TGTGTATATACATATACATATATGTGTATATACATATACATATATATATG TGTATATACATATAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03209.hp1 HG02818.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0015 a0001c0001t0014 a0001c0001t0015	a0001c0001t0014g0066 a0001c0001t0015g0050 a0001c0001t0014g0066 a0001c0001t0015g0050	2	96	0.0208	214	c.-16 others(235): Show c.-167-37726_-167-37725insGTATATGTATATACACATATATAT ATGTATATGTATATACACATATATGTATATGTATATACACATATATATGT ATATATATACACATATATATATGTGTATATATATACACATATATATGTAT ATATATACACATATATATGTGTATATATATATACACATATATATATGTGT GTATATATATATATACACATATATATATGTATATATATAT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GAL3ST2_chr2_241771822_241809287	241805782	A A	ACCTTCCC others(207): Show ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCTCAGCCCA GGGACCTCTGCAGGCCACCCTCCCTCCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGG CCACCTTCCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	314	0.0032	214	c.16 others(225): Show c.1616_*1617insCCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCC CTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCTTCCCTCCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1496		chr2	TogoVar
GAS6_chr13_113815549_113869076	113836850	G G	GGGGGAGG others(207): Show GGGGGAGGAGGAGGGGGAGTGGGGGGGAGGAGGAGGGGGAGTGGGGGGGA GGAGGAGGGGGAGTGGGGGGGAGGAGGAGAAGAAAGAGGAGGAGGAAGAT GGGGAGGAGGAGGAGGAAGATGGGGAGGAGGAGGGGGAGTGGGGGGAGGA GGAGAAGAAAGAGGAGGAGGAAGATGGGGAGGAGGAGGAAGATGGGGAGG AGGAGGGGGAATGGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02886.hp1 HG03579.hp1 others(1): Show HG02145.hp1 HG02886.hp1 HG03579.hp1 NA18970.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0001c0005 a0015c0020 a0001c0001 a0001c0005 a0015c0020	a0001c0001t0001 a0001c0005t0001 a0015c0020t0001 a0001c0001t0001 a0001c0005t0001 a0015c0020t0001	a0001c0001t0001g0090 a0001c0005t0001g0109 a0001c0005t0001g0110 others(1): Show a0001c0001t0001g0090 a0001c0005t0001g0109 a0001c0005t0001g0110 a0015c0020t0001g0129	4	143	0.0280	214	c.590 others(231): Show c.590-1216_590-1215insTCCATTCCCCCTCCTCCTCCCCATCTTC CTCCTCCTCCCCATCTTCCTCCTCCTCTTTCTTCTCCTCCTCCCCCCACT CCCCCTCCTCCTCCCCATCTTCCTCCTCCTCCTCCCCATCTTCCTCCTCC TCTTTCTTCTCCTCCTCCCCCCCACTCCCCCTCCTCCTCCCCCCCACTCC CCCTCCTCCTCCCCCCCACTCCCCCTCCTCCTCCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14			chr13	TogoVar
GAS8_chr16_90017680_90049960	90032420	G G	GTATGGGT others(207): Show GTATGGGTGACCAGGTGTGTACAGGTATGGACAGGTGAGGAGGTGTGGTA CAGGTGACCAGGTGTGTACGGGTACGGACAGGTGAGGAGGTGTGGTGCAG GTGTGGTATGGGTGACCAGGTGTGTACAGGTATGGATGGACAGGTAAGGA GGTGTGGTACAGGTGACCAGGTGTGTACAGGTATGGACAGGTGAGGAGGT GTGGTACAGGTGTGC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03486.hp1 NA19043.hp2 HG03209.hp1 HG03486.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0012 a0001c0002t0003 a0001c0002t0012	a0001c0002t0003g0151 a0001c0002t0012g0139 a0001c0002t0012g0141 a0001c0002t0003g0151 a0001c0002t0012g0139 a0001c0002t0012g0141	3	390	0.0077	214	c.289 others(228): Show c.289-279_289-66dupTACAGGTATGGACAGGTGAGGAGGTGTGGTA CAGGTGACCAGGTGTGTACGGGTACGGACAGGTGAGGAGGTGTGGTGCAG GTGTGGTATGGGTGACCAGGTGTGTACAGGTATGGATGGACAGGTAAGGA GGTGTGGTACAGGTGACCAGGTGTGTACAGGTATGGACAGGTGAGGAGGT GTGGTACAGGTGTGCTATGGGTGACCAGGTGTG	GAS8	ENSG00000141013.17	transcript	ENST00000268699.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
GK_chrX_30648423_30736462	30663964	T T	TATATATA others(207): Show TATATATATTTTATATATATCTATATATATTTTATAGATATATATTTTAT ATATATCTATATATATTTTATAGATATATATTTTATATATATCTATATAT ATTTATAGATATATATTTTATATATATCTATATATATTTATAGATATATA TTTTATATATATCTATATATATTTTATAGATATATATTTTATATATATCT ATATATATTTTATAG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02004.hp1 HG02027.hp1 others(2): Show HG01346.hp2 HG02004.hp1 HG02027.hp1 NA19006.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0225 a0001c0001t0002g0229 others(2): Show a0001c0001t0002g0214 a0001c0001t0002g0225 a0001c0001t0002g0229 a0001c0001t0002g0251 a0001c0001t0002g0269	5	286	0.0175	214	c.79- others(229): Show c.79-1444_79-1443insATAGATATATATTTTATATATATCTATATA TATTTATAGATATATATTTTATATATATCTATATATATTTTATAGATATA TATTTTATATATATCTATATATATTTTATAGATATATATTTTATATATAT CTATATATATTTTATAGATATATATTTTATATATATCTATATATATTTTA TAGATATATATTTTATATATATCTATATATATTT	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLB1L3_chr11_134271379_134324564	134308503	C C	CACCACCA others(207): Show CACCACCACCACCATGTCCACCACCACTACCACCACCATCACCATCACCA TCACCACTACCACCACCACCAGCACCACCACCATCACCATCATCACCATC ACCACTACCACCACCACCACCACCACCACCATCACCACCATCACCACCAT CACCATCATCACCATCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCAAAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19057.hp2 NA19060.hp2 others(1): Show NA19005.hp1 NA19057.hp2 NA19060.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0334 a0001c0001t0002g0339 others(1): Show a0001c0001t0002g0132 a0001c0001t0002g0334 a0001c0001t0002g0339 a0001c0001t0002g0356	4	422	0.0095	214	c.962 others(231): Show c.962-1110_962-1109insTGTCCACCACCACTACCACCACCATCAC CATCACCATCACCACTACCACCACCACCAGCACCACCACCATCACCATCA TCACCATCACCACTACCACCACCACCACCACCACCACCATCACCACCATC ACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCAAATACCACCACCACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLO1_chr6_38670925_38708145	38701175	G G	GGGTCCTC others(207): Show GGGTCCTCCCTGGGCAAATCACTCAACACCTCTATGTGCCTGAGTGTCCT TATTTGTAAAATGAAGATCATAATTATGCCTTCTTCATAGGGTTGTTGTT AGGATTAAATTAAACAATGTACTTAAAATACCAAGCCAGGGCCTGGCACA CTCAATATATACCAGCTATTATTATGTATTCCATTTTATGTCTCCACGTG GCCAAAAATTGCCCA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02145.hp2 others(1): Show HG01243.hp1 HG02055.hp2 HG02145.hp2 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0007 a0002c0002t0002 a0002c0002t0007	a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 others(1): Show a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0007g0145	4	410	0.0098	214	c.84+ others(229): Show c.84+1795_84+1796insTGGGCAATTTTTGGCCACGTGGAGACATAA AATGGAATACATAATAATAGCTGGTATATATTGAGTGTGCCAGGCCCTGG CTTGGTATTTTAAGTACATTGTTTAATTTAATCCTAACAACAACCCTATG AAGAAGGCATAATTATGATCTTCATTTTACAAATAAGGACACTCAGGCAC ATAGAGGTGTTGAGTGATTTGCCCAGGGAGGACC	GLO1	ENSG00000124767.7	transcript	ENST00000373365.5	protein_coding	1/5			chr6	TogoVar
GLT1D1_chr12_128848478_128989968	128879376	C C	CTCTTTCT others(207): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0137	1	320	0.0031	214	c.217 others(231): Show c.217+3315_217+3316insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GPHN_chr14_66503147_67186803	66683385	T T	TATATATG others(207): Show TATATATGTTCATATATATATGTTCATATATATGTATGTTCATATATATA TGTACATATATATGTTCATATATGTATGTTCATATATATATGTACATATA TATGTTCATATATGTATGTTCATATATATATGTACATATATATGTTCATA TATATATGTTCATATATATGTTCATATATATATGTTCATATATATATGTT CATATATATATGTTC	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18998.hp1 HG00673.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0189 a0001c0001t0001g0167 a0001c0001t0001g0189	2	234	0.0086	214	c.143 others(231): Show c.143+2206_143+2207insGTTCATATATATATGTTCATATATATGT ATGTTCATATATATATGTACATATATATGTTCATATATGTATGTTCATAT ATATATGTACATATATATGTTCATATATGTATGTTCATATATATATGTAC ATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGT TCATATATATATGTTCATATATATATGTTCATATAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPR173_chrX_53043789_53085615	53074114	T T	TTATATAT others(207): Show TTATATATAAATATATAAATATACATTTATATATAAATATATAAATATAC ATTTATATATAAATATATATAAATATACATTTATATATAAATATATATAA ATATACATTTATATATAAATATATATAAATATACATTTATATATAAATAT ATATAAATATACATGTATATTTATTCATATATAAATATATATAAATATAC ATGTATATTTATTCA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0060 a0001c0002t0060	a0001c0002t0060g0195 a0001c0002t0060g0195	1	208	0.0048	214	c.-97 others(231): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATAAATATACATTTATATATAAATATATATAAATATACATTTATA TATAAATATATATAAATATACATTTATATATAAATATATATAAATATACA TTTATATATAAATATATATAAATATACATGTATATTTATTCATATATAAA TATATATAAATATACATGTATATTTATTCATATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRHL1_chr2_9946693_10007277	9998889	C C	CACATATA others(207): Show CACATATATATGTACACATATATATACACATATATATGTACACATATATA TACACATATATATGTACACATATATATACACATATATATGTACACATATA TGTACACATATATATGTACACATATATGTACACATATATATATACACATA TATGTACACATATATATATACACATATATGTACACATATATATATGTACA CATATATATATACAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0087 a0004c0004t0002g0087	1	418	0.0024	214	c.167 others(229): Show c.1678-75_1678-74insCATATATATGTACACATATATATACACATA TATATGTACACATATATATACACATATATATGTACACATATATATACACA TATATATGTACACATATATGTACACATATATATGTACACATATATGTACA CATATATATATACACATATATGTACACATATATATATACACATATATGTA CACATATATATATGTACACATATATATATACATA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRIN2A_chr16_9748408_10187428	9848712	A A	ATATTTAA others(207): Show ATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAAT ACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTA AATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGT TTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATAT AAAATACACTGTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03139.hp1 HG02572.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0067 a0001c0010t0003 a0001c0003t0067 a0001c0010t0003	a0001c0003t0067g0028 a0001c0010t0003g0009 a0001c0003t0067g0028 a0001c0010t0003g0009	2	168	0.0119	214	c.132 others(233): Show c.1328+1043_1328+1044insAAAACAGTGTATTTTATATATTTAAA TATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTT TATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAA AACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATAT TTAAATATATAAAACAGTGTATTTTATATATTTAAATA	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	5/12			chr16	TogoVar
GRM5_chr11_88499642_89070982	88687566	T T	TATATATT others(207): Show TATATATTATATATATATATTATATATATTATATATATATAATATATATA ATATATATATTATATATATATAATATATATTATATATATATAATATATAT AATATATATATTATATATATATAATATATATATTATATATATATTATATA TATATTATATGTATATAATATATATATAATATATATAATATATATATATT ATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02886.hp2 HG02976.hp1 HG01884.hp1 HG02886.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0012 a0001c0001t0001 a0001c0001t0002 a0001c0004t0012	a0001c0001t0001g0015 a0001c0001t0002g0026 a0001c0004t0012g0087 a0001c0001t0001g0015 a0001c0001t0002g0026 a0001c0004t0012g0087	3	184	0.0163	214	c.912 others(233): Show c.912-34164_912-34163insTATATATATATATATAATATATATAT ATTATATATATTATATATATATTATATACATATAATATATATATAATATA TATATAATATATATATTATATATATATAATATATATATTATATATATTAT ATATATATAATATATATTATATATATATAATATATATATTATATATATTA TATATATATAATATATATAATATATATATATAATATAT	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GRM5_chr11_88499642_89070982	88687579	A A	ATATATTA others(207): Show ATATATTATATATATATTATATATATATTATATATATATTATATATATAT TATATATATTATATATATATTATATATATATTATATATATATTATATATA TATTATATATATATATTATATATATATTATATATATATATTATATATATA ATATATATAATATATATATTATATATATATATATATTATATATATATAAT ATATATATATTATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	184	0.0054	214	c.912 others(233): Show c.912-34177_912-34176insATATAATATATATATATTATATATAT ATAATATATATATATATATAATATATATATTATATATATTATATATATAA TATATATATATAATATATATATAATATATATATATAATATATATATAATA TATATATAATATATATATAATATATATATAATATATATAATATATATATA ATATATATATAATATATATATAATATATATATAATATA	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GSE1_chr16_85608322_85681200	85653201	C C	CCCTCCTC others(207): Show CCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCT CTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTC CTCCTCCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	290	0.0035	214	c.427 others(231): Show c.427-1069_427-1068insTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCT CCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GUCY1A2_chr11_106669019_107023476	106709652	G G	GTTATATA others(207): Show GTTATATATTATATACACGTATAGAATATATAGTTAGTTATATACACGTA TAGAATATATAGTTATATACACGTATAGAATATATAGTTATATATTATAT ACACGTATAGAATATATAGTTATATATTATATACACGTATAGAATATATA GTTATATACACGTATAGAATATATAGTTATATATTATATACACGTATAGA ATATATAGTTATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18906.hp1 HG03195.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0239 a0001c0003t0014g0243 a0001c0003t0014g0239 a0001c0003t0014g0243	2	256	0.0078	214	c.183 others(231): Show c.1837-987_1837-986insTATATAACTATATATTCTATACGTGTAT ATAATATATAACTATATATTCTATACGTGTATATAACTATATATTCTATA CGTGTATATAATATATAACTATATATTCTATACGTGTATATAATATATAA CTATATATTCTATACGTGTATATAACTATATATTCTATACGTGTATATAA CTAACTATATATTCTATACGTGTATATAATATATAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HMGN1_chr21_39337315_39354088	39337374	A A	ATATATAT others(207): Show ATATATATAATATATATATATATATAATATATTATATATATTATATATAT ATTAATATAATATATTATATATAAATATATATATAATATATATATTAATA TATATATTATATATAATATATATATTATATATATAATATATATATTATAT ATATAATATATATAAATATATATATATTATATATATAATATATATATTAT ATATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	414	0.0024	214	c.57 others(225): Show c.5737_*5738insATATATATTATATATATAATATATATATTATATA TATAATATATATATATTTATATATATTATATATATAATATATATATTATA TATATAATATATATATTATATATAATATATATATTAATATATATATTATA TATATATTTATATATAATATATTATATTAATATATATATAATATATATAA TATATTATATATATATATATATTATATATA	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4940		chr21	TogoVar
HMGN1_chr21_39337315_39354088	39337374	A A	ATATATAT others(207): Show ATATATATAATATATATATATATATAATATATTATATATATTATATATAT ATTAATATAATATATTATATATAAATATATATATAATATATATATTAATA TATATATTATATATAATATATATATTTATATATAATATATATATTAATAT ATATAATATATATAAATATATATATATTATATATATAATATATATATTAT ATATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0076	1	414	0.0024	214	c.57 others(225): Show c.5737_*5738insATATATATTATATATATAATATATATATTATATA TATAATATATATATATTTATATATATTATATATATTAATATATATATTAT ATATAAATATATATATTATATATAATATATATATTAATATATATATTATA TATATATTTATATATAATATATTATATTAATATATATATAATATATATAA TATATTATATATATATATATATTATATATA	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4940		chr21	TogoVar
HMGN1_chr21_39337315_39354088	39337374	A A	ATATATAT others(207): Show ATATATATAATATATATATATATATAATATATTATATATATTATATATAT ATTAATATATATATTATATATAAATATATATATAATATATATATTAATAT ATATATTATATATAATATATATATTATATATATAATATATATATTAATAT ATATAATATATATAAATATATATATATTATATATATAATATATATATTAT ATATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA19005.hp1 NA18952.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0080 a0001c0001t0003g0023 a0001c0001t0003g0080	2	414	0.0048	214	c.57 others(225): Show c.5737_*5738insATATATATTATATATATAATATATATATTATATA TATAATATATATATATTTATATATATTATATATATTAATATATATATTAT ATATATAATATATATATTATATATAATATATATATTAATATATATATTAT ATATATATTTATATATAATATATATATTAATATATATATAATATATATAA TATATTATATATATATATATATTATATATA	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4940		chr21	TogoVar
HTR2C_chrX_114579086_114915061	114807462	T T	TATATATA others(207): Show TATATATACCATATATATACGCCATATATATACCATATATATACGCCATA TATATACCATATATATACGCCATATATATACCATATATATACGCCATATA TATACCATATATATACGCCATATATATACCATATATATACGCCATATATA TACCATATATATACGCCATATATATACCATATATATACGCCATATATATA CCATATATATACGCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0032 a0002c0002t0002g0032	1	176	0.0057	214	c.350 others(233): Show c.350-40534_350-40533insCCATATATATACGCCATATATATACC ATATATATACGCCATATATATACCATATATATACGCCATATATATACCAT ATATATACGCCATATATATACCATATATATACGCCATATATATACCATAT ATATACGCCATATATATACCATATATATACGCCATATATATACCATATAT ATACGCCATATATATACCATATATATACGCCATATATA	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar

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