Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(486): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGAGGAGGGGAGGGGGGA GGAGGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGG GAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGG GGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGA GGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGG AGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGG GGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	30	0.0333	493	c.36 others(504): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGA GGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGG AGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGG GGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGG AGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAG GAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGGG GGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGGA GGGGGGGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RFC1_chr4_39282456_39371362	39348422	C C	CAGAAAAG others(486): Show CAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	268	0.0037	493	c.132 others(510): Show c.132+2925_132+2926insTTTCTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RGPD5_chr2_109789305_109862705	109794573	A A	ACCCGGCC others(486): Show ACCCGGCCGGGGGGGGAGGGGGGGGGGCGGCGGCGGCGGCCTCGGCCCGG CCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCG GCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGG CGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCC GGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCG GGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCG GCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGG CCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCC GGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCC CGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCCCGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0016 a0001c0011t0001g0016	1	24	0.0417	493	c.72+ others(504): Show c.72+49_72+50insGGAGGGGGGGGGGCGGCGGCGGCGGCCTCGGCCC GGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGG CGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGC GGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCC CCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGC CGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGG CGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCC GGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGG CCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCCGG CCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCCCGGCCCG GCCGGGGGG	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RIN3_chr14_92508781_92693994	92547135	G G	GTAAATTA others(486): Show GTAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTT ATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTAT TATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTAT TTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0307 a0001c0001t0003g0307	1	173	0.0058	493	c.45- others(508): Show c.45-8552_45-8551insGTCTTTATTTTATTATTATAAAATAAATTG TCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAA ATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTAT TATAAAATAAATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92547135	G G	GTAAATTA others(486): Show GTAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTT ATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTC TTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTAT TATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTAT TTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02074.hp2 HG00673.hp2 HG02074.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0001 a0003c0003t0001 a0004c0004t0001	a0003c0003t0001g0129 a0004c0004t0001g0256 a0003c0003t0001g0129 a0004c0004t0001g0256	2	174	0.0115	493	c.45- others(508): Show c.45-8552_45-8551insGTCTTTATTTTATTATTATAAAATAAATTG TCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAA ATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTAT TATAAAATAAATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPA3_chr7_7631518_7723607	7679372	T T	TACATGTT others(486): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATA TTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0150 a0001c0001t0006g0150	1	85	0.0118	493	c.-75 others(512): Show c.-758+6457_-758+6458insTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAA ATATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTA TCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATA AATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAA ATTAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATAT ATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAAT ATATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATC TATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAACATGT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPTOR_chr17_80539838_80971368	80963748	C C	CTGCGGCC others(486): Show CTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCC GTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCC CCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTC TGCGGCCCTCACCCCGTCCGCTGTGCGGCCGAGTCCTCACCCTGTCCCCT GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCC CTCACCCCGTCCGCTGTGCGGCCGAGTCCTCACCCTGTCCCCTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0062 a0001c0011t0062	a0001c0011t0062g0114 a0001c0011t0062g0114	1	157	0.0064	493	c.394 others(510): Show c.3940-449_3940-448insCCTGTGCGGCCCTCACCCCGTCCCCTGT GCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGG CCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCT CACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACC CCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGT CCCCTCTGCGGCCCTCACCCCGTCCGCTGTGCGGCCGAGTCCTCACCCTG TCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCC CTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCT GCGGCCCTCACCCCGTCCGCTGTGCGGCCGAGTCCTCACCCTGTCCCCTG TGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERINC5_chr5_80133727_80261048	80251897	T T	TATCAGAG others(486): Show TATCAGAGCACCAACAAGGTCAAAGAGCTGGAATGTCAGGAAGTCTCAGA ACAGGCTGCATGACTATTCCATACGCCTGCCACTGTCTGTATGTGTGACA GAATTTGGTCTGTGACTTTGGTCTTTATGACCTGAATTAGGTATGAGGGA GAAGTTAAGCCTCACCCAACCATTAACTACTGGCAGCCAACAATAACTAC GAAAACAGCCAATAGCAGGGTATTCAAAACTGCACTGGGTCCATCTGGAG CAATTATATTATTTATTCACATAGGAATAATAAGGAATAGCAGTCTGGTA CAAAAGTCACCCAACTCAAGTCAGGTGGGCCAGTATGCAAGGCCTGGCTC TACCATCAGTCAGTTGGTAACATCAGTTCATTTATTTCTCTATACTTTAG TTGACTCATCTGTAAAAAGAGGCCAAGCAGGGGTTTTGTGAGGAATGAAT GAATTATAATGTATGTAAAAACAAAGCACATACTGTGGGCTGAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00609.hp2 others(104): Show HG00323.hp1 HG00323.hp2 HG00609.hp2 HG00621.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01261.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02258.hp2 HG02300.hp1 HG02486.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02922.hp2 HG03017.hp1 HG03130.hp1 HG03139.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18963.hp1 NA18963.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp2 NA18983.hp1 NA18984.hp1 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19009.hp1 NA19057.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19086.hp2 NA19087.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(3): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0001t0036 a0001c0001t0045 a0001c0001t0051 a0001c0001t0056 a0001c0001t0057 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0066 a0001c0001t0076 a0001c0002t0003 a0001c0002t0005 a0001c0002t0016 a0001c0002t0068 a0001c0002t0069 a0001c0002t0070 a0001c0002t0071 a0001c0002t0072 a0001c0002t0073 a0001c0002t0077 a0001c0009t0037 a0001c0010t0005 a0002c0003t0009 a0002c0004t0016	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(104): Show a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0204 a0001c0001t0001g0223 a0001c0001t0001g0237 a0001c0001t0001g0248 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0039 a0001c0001t0002g0153 a0001c0001t0002g0162 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0198 a0001c0001t0002g0201 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0002g0221 a0001c0001t0002g0227 a0001c0001t0002g0232 a0001c0001t0004g0154 a0001c0001t0004g0190 a0001c0001t0004g0195 a0001c0001t0004g0207 a0001c0001t0004g0211 a0001c0001t0004g0214 a0001c0001t0004g0247 a0001c0001t0004g0282 a0001c0001t0006g0174 a0001c0001t0006g0197 a0001c0001t0006g0199 a0001c0001t0006g0200 a0001c0001t0006g0216 a0001c0001t0006g0219 a0001c0001t0007g0160 a0001c0001t0008g0222 a0001c0001t0009g0187 a0001c0001t0009g0230 a0001c0001t0010g0228 a0001c0001t0010g0235 a0001c0001t0012g0220 a0001c0001t0012g0238 a0001c0001t0014g0152 a0001c0001t0023g0168 a0001c0001t0024g0188 a0001c0001t0025g0166 a0001c0001t0029g0158 a0001c0001t0029g0159 a0001c0001t0036g0226 a0001c0001t0045g0234 a0001c0001t0051g0236 a0001c0001t0056g0208 a0001c0001t0057g0203 a0001c0001t0061g0225 a0001c0001t0062g0283 a0001c0001t0063g0164 a0001c0001t0064g0170 a0001c0001t0066g0196 a0001c0001t0076g0286 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0040 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0167 a0001c0002t0003g0175 a0001c0002t0003g0178 a0001c0002t0003g0180 a0001c0002t0003g0193 a0001c0002t0003g0194 a0001c0002t0003g0205 a0001c0002t0003g0209 a0001c0002t0003g0215 a0001c0002t0003g0224 a0001c0002t0005g0161 a0001c0002t0005g0172 a0001c0002t0005g0202 a0001c0002t0005g0212 a0001c0002t0005g0263 a0001c0002t0016g0033 a0001c0002t0016g0034 a0001c0002t0068g0185 a0001c0002t0069g0246 a0001c0002t0070g0186 a0001c0002t0071g0037 a0001c0002t0072g0165 a0001c0002t0073g0218 a0001c0002t0077g0285 a0001c0009t0037g0231 a0001c0010t0005g0206 a0002c0003t0009g0181 a0002c0004t0016g0229	107	238	0.4496	493	c.27+ others(508): Show c.27+3998_27+3999insTTCAGCCCACAGTATGTGCTTTGTTTTTAC ATACATTATAATTCATTCATTCCTCACAAAACCCCTGCTTGGCCTCTTTT TACAGATGAGTCAACTAAAGTATAGAGAAATAAATGAACTGATGTTACCA ACTGACTGATGGTAGAGCCAGGCCTTGCATACTGGCCCACCTGACTTGAG TTGGGTGACTTTTGTACCAGACTGCTATTCCTTATTATTCCTATGTGAAT AAATAATATAATTGCTCCAGATGGACCCAGTGCAGTTTTGAATACCCTGC TATTGGCTGTTTTCGTAGTTATTGTTGGCTGCCAGTAGTTAATGGTTGGG TGAGGCTTAACTTCTCCCTCATACCTAATTCAGGTCATAAAGACCAAAGT CACAGACCAAATTCTGTCACACATACAGACAGTGGCAGGCGTATGGAATA GTCATGCAGCCTGTTCTGAGACTTCCTGACATTCCAGCTCTTTGACCTTG TTGGTGCTCTGAT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	1/11			chr5	TogoVar
SERINC5_chr5_80133727_80261048	80251897	T T	TATCAGAG others(486): Show TATCAGAGCACCAACAAGGTCAAAGAGCTGGAATGTCAGGAAGTCTCAGA ACAGGCTGCATGACTATTCCATACGCCTGCCACTGTCTGTATGTGTGACA GAATTTGGTCTGTGACTTTGGTCTTTATGACCTGAATTAGGTATGAGGGA GAAGTTAAGCCTCACCCAACCATTAACTACTGGCAGCCAACAATAACTAC GAAAACAGCCAATAGCAGGGTATTCAAAACTGCACTGGGTCCATCTGGAG CAATTATATTATTTATTCACATAGGAATAATAAGGAATAGCAGTCTGGTA CAAAAGTCACCCAACTCAAGTCAGGTGGGCCAGTATGCAAGGCCTGGCTC TACCATCAGTCAGTTGGTAACATCAGTTCATTTATTTCTCTATACTTTAG TTGACTCATCTGTAAAAGGAGGCCAAGCAGGGGTTTTGTGAGGAATGAAT GAATTATAATGTATGTAAAAACAAAGCACATACTGTGGGCTGAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG01256.hp1 others(6): Show HG00140.hp1 HG00642.hp2 HG01256.hp1 HG01891.hp1 HG02486.hp1 HG02559.hp1 HG02647.hp2 HG03225.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 others(5): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0046 a0001c0001t0049 a0001c0001t0058 a0001c0002t0067	a0001c0001t0002g0151 a0001c0001t0007g0150 a0001c0001t0007g0249 others(6): Show a0001c0001t0002g0151 a0001c0001t0007g0150 a0001c0001t0007g0249 a0001c0001t0008g0241 a0001c0001t0012g0251 a0001c0001t0046g0149 a0001c0001t0049g0242 a0001c0001t0058g0243 a0001c0002t0067g0250	9	140	0.0643	493	c.27+ others(508): Show c.27+3998_27+3999insTTCAGCCCACAGTATGTGCTTTGTTTTTAC ATACATTATAATTCATTCATTCCTCACAAAACCCCTGCTTGGCCTCCTTT TACAGATGAGTCAACTAAAGTATAGAGAAATAAATGAACTGATGTTACCA ACTGACTGATGGTAGAGCCAGGCCTTGCATACTGGCCCACCTGACTTGAG TTGGGTGACTTTTGTACCAGACTGCTATTCCTTATTATTCCTATGTGAAT AAATAATATAATTGCTCCAGATGGACCCAGTGCAGTTTTGAATACCCTGC TATTGGCTGTTTTCGTAGTTATTGTTGGCTGCCAGTAGTTAATGGTTGGG TGAGGCTTAACTTCTCCCTCATACCTAATTCAGGTCATAAAGACCAAAGT CACAGACCAAATTCTGTCACACATACAGACAGTGGCAGGCGTATGGAATA GTCATGCAGCCTGTTCTGAGACTTCCTGACATTCCAGCTCTTTGACCTTG TTGGTGCTCTGAT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	1/11			chr5	TogoVar
SERINC5_chr5_80133727_80261048	80251897	T T	TATCAGAG others(486): Show TATCAGAGCACCAACAAGGTCAAAGAGCTGGAATGTCAGGAAGTCTCAGA ACAGGCTGCATGACTATTCCATACGCCTGCCACTGTCTGTATGTGTGACA GAATTTGGTCTGTGACTTTGGTCTTTATGACCTGAATTAGGTATGAGGGA GAAGTTAAGCCTCACCCAACCATTAACTACTGGCAGCCAACAATAACTAC GAAAACAGCCAATAGCAGGGTATTCAAAACTGCATTGGGTCCATCTGGAG CAATTATATTATTTATTCACATAGGAATAATAAGGAATAGCAGTCTGGTA CAAAAGTCACCCAACTCAAGTCAGGTGGGCCAGTATGCAAGGCCTGGCTC TACCATCAGTCAGTTGGTAACATCAGTTCATTTATTTCTCTATACTTTAG TTGACTCATCTGTAAAAGGAGGCCAAGCAGGGGTTTTGTGAGGAATGAAT GAATTATAATGTATGTAAAAACAAAGCACATACTGTGGGCTGAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00639.hp1 others(31): Show HG00099.hp2 HG00408.hp1 HG00639.hp1 HG01069.hp2 HG01099.hp1 HG01167.hp2 HG01943.hp1 HG01993.hp2 HG02280.hp2 HG02300.hp2 HG02572.hp2 HG02683.hp1 HG02818.hp1 HG02922.hp1 HG03017.hp2 HG03225.hp2 HG03471.hp1 HG03579.hp1 HG03688.hp2 NA18747.hp1 NA18747.hp2 NA18955.hp2 NA18957.hp2 NA18970.hp1 NA18983.hp2 NA18984.hp2 NA19003.hp2 NA19065.hp2 NA19081.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA20300.hp1 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0008 a0001c0001 a0001c0002 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0022 a0001c0001t0025 a0001c0001t0031 a0001c0001t0038 a0001c0001t0054 a0001c0001t0060 a0001c0002t0003 a0004c0008t0002	a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0020 others(31): Show a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0239 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0006g0019 a0001c0001t0008g0259 a0001c0001t0011g0009 a0001c0001t0014g0025 a0001c0001t0015g0257 a0001c0001t0015g0258 a0001c0001t0022g0260 a0001c0001t0022g0261 a0001c0001t0025g0005 a0001c0001t0031g0255 a0001c0001t0031g0256 a0001c0001t0038g0254 a0001c0001t0054g0253 a0001c0001t0060g0023 a0001c0002t0003g0010 a0001c0002t0003g0013 a0001c0002t0003g0022 a0001c0002t0003g0026 a0004c0008t0002g0008	34	165	0.2061	493	c.27+ others(508): Show c.27+3998_27+3999insTTCAGCCCACAGTATGTGCTTTGTTTTTAC ATACATTATAATTCATTCATTCCTCACAAAACCCCTGCTTGGCCTCCTTT TACAGATGAGTCAACTAAAGTATAGAGAAATAAATGAACTGATGTTACCA ACTGACTGATGGTAGAGCCAGGCCTTGCATACTGGCCCACCTGACTTGAG TTGGGTGACTTTTGTACCAGACTGCTATTCCTTATTATTCCTATGTGAAT AAATAATATAATTGCTCCAGATGGACCCAATGCAGTTTTGAATACCCTGC TATTGGCTGTTTTCGTAGTTATTGTTGGCTGCCAGTAGTTAATGGTTGGG TGAGGCTTAACTTCTCCCTCATACCTAATTCAGGTCATAAAGACCAAAGT CACAGACCAAATTCTGTCACACATACAGACAGTGGCAGGCGTATGGAATA GTCATGCAGCCTGTTCTGAGACTTCCTGACATTCCAGCTCTTTGACCTTG TTGGTGCTCTGAT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	1/11			chr5	TogoVar
SERINC5_chr5_80133727_80261048	80251897	T T	TATCAGAG others(486): Show TATCAGAGCACCAACAAGGTCAAAGAGCTGGAATGTCAGGAAGTCTCAGA ACAGGCTGCATGACTATTCCATACGCCTGCCACTGTCTGTATGTGTGACA GAATTTGGTCTGTGACTTTGGTCTTTATGACCTGAATTAGGTATGAGGGA GAAGTTAAGCCTCACCCAACCATTAACTACTGGCAGCCAACAATAACTAT GAAAACAGCCAATAGCAGGGTATTCAAAACTGCACTGGGTCCATCTGGAG CAATTATATTATTTATTCACATAGGAATAATAAGGAATAGCAGTCTGGTA CAAAAGTCACCCAACTCAAGTCAGGTGGGCCAGTATGCAAGGCCTGGCTC TACCATCAGTCAGTTGGTAACATCAGTTCATTTATTTCTCTATACTTTAG TTGACTCATCTGTAAAAAGAGGCCAAGCAGGGGTTTTGTGAGGAATGAAT GAATTATAATGTATGTAAAAACAAAGCACATACTGTGGGCTGAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0240 a0001c0001t0008g0240	1	132	0.0076	493	c.27+ others(508): Show c.27+3998_27+3999insTTCAGCCCACAGTATGTGCTTTGTTTTTAC ATACATTATAATTCATTCATTCCTCACAAAACCCCTGCTTGGCCTCTTTT TACAGATGAGTCAACTAAAGTATAGAGAAATAAATGAACTGATGTTACCA ACTGACTGATGGTAGAGCCAGGCCTTGCATACTGGCCCACCTGACTTGAG TTGGGTGACTTTTGTACCAGACTGCTATTCCTTATTATTCCTATGTGAAT AAATAATATAATTGCTCCAGATGGACCCAGTGCAGTTTTGAATACCCTGC TATTGGCTGTTTTCATAGTTATTGTTGGCTGCCAGTAGTTAATGGTTGGG TGAGGCTTAACTTCTCCCTCATACCTAATTCAGGTCATAAAGACCAAAGT CACAGACCAAATTCTGTCACACATACAGACAGTGGCAGGCGTATGGAATA GTCATGCAGCCTGTTCTGAGACTTCCTGACATTCCAGCTCTTTGACCTTG TTGGTGCTCTGAT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	1/11			chr5	TogoVar
SERINC5_chr5_80133727_80261048	80251897	T T	TATCAGAG others(486): Show TATCAGAGCACCAACAAGGTCAAAGAGCTGGAATGTCAGGAAGTCTCAGA ACAGGCTGCATGACTATTCCATACGCCTGCCACTGTCTGTATGTGTGACA GAATTTGGTTTGTGACTTTGGTCTTTATGACCTGAATTAGGTATGAGGGA GAAGTTAAGCCTCACCCAACCATTAACTACTGGCAGCCAACAATAACTAC GAAAACAGCCAATAGCAGGGTATTCAAAACTGCACTGGGTCCATCTGGAG CAATTATATTATTTATTCACATAGGAATAATAAGGAATAGCAGTCTGGTA CAAAAGTCACCCAACTCAAGTCAGGTGGGCCAGTATGCAAGGCCTGGCTC TACCATCAGTCAGTTGGTAACATCAGTTCATTTATTTCTCTATACTTTAG TTGACTCATCTGTAAAAGGAGGCCAAGCAGGGGTTTTGTGAGGAATGAAT GAATTATAATGTATGTAAAAACAAAGCACATACTGTGGGCTGAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0284 a0001c0001t0075g0284	1	132	0.0076	493	c.27+ others(508): Show c.27+3998_27+3999insTTCAGCCCACAGTATGTGCTTTGTTTTTAC ATACATTATAATTCATTCATTCCTCACAAAACCCCTGCTTGGCCTCCTTT TACAGATGAGTCAACTAAAGTATAGAGAAATAAATGAACTGATGTTACCA ACTGACTGATGGTAGAGCCAGGCCTTGCATACTGGCCCACCTGACTTGAG TTGGGTGACTTTTGTACCAGACTGCTATTCCTTATTATTCCTATGTGAAT AAATAATATAATTGCTCCAGATGGACCCAGTGCAGTTTTGAATACCCTGC TATTGGCTGTTTTCGTAGTTATTGTTGGCTGCCAGTAGTTAATGGTTGGG TGAGGCTTAACTTCTCCCTCATACCTAATTCAGGTCATAAAGACCAAAGT CACAAACCAAATTCTGTCACACATACAGACAGTGGCAGGCGTATGGAATA GTCATGCAGCCTGTTCTGAGACTTCCTGACATTCCAGCTCTTTGACCTTG TTGGTGCTCTGAT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	1/11			chr5	TogoVar
SERPINF2_chr17_1737871_1760265	1739135	A A	AGCCTGAT others(486): Show AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAACAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAG GAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAAGGAGCCTGATTCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGA GGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 NA19079.hp1 HG00597.hp1 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0002 a0002c0002t0004g0002 a0002c0002t0001g0002 a0002c0002t0004g0002	2	308	0.0065	493	c.-37 others(504): Show c.-3778_-3777insGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCT GATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATTCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA GCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGG ACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAGGCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3735		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739135	A A	AGCCTGAT others(486): Show AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAACAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCA GGTGTGAGGGCGGGAAGCGGCCTGATTCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGA GGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	307	0.0033	493	c.-37 others(504): Show c.-3778_-3777insGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGC AGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATTCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA GCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGG ACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAGGCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3735		chr17	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(486): Show CGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGG GGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGGGGGGGC GGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGG AGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGGG GAGGAGGCGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGC GGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGG GAGGCGGGGGGGCGGGAGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGCGG GGGGGAGGGAGGGGAAGGAGGCGGGGGGGGCGGGAGGGGGAGGACGCGGG GGGGGCGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGA GGCGGGAGGGGAAGGAGGCGGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0013 a0001c0009t0003g0013	1	25	0.0400	493	c.914 others(512): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCG CCTCCTTCCCCTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCT CCCGCCCCCCCCGCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCCGCCT CCTTCCCCTCCCTCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCGCCCC CTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCC CGCCCCTCCCGCCCCCCCGCCCCCCCCGCCTCCTCCCCCTCCGGCCCCCT CCCGCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCC CCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCC CCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGC CTCCTCCCCCTCCCGCCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCT CCCCCCTGCCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(486): Show CGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGG GGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGGGGGGGC GGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGG AGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGGG GAGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGG CGGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGG GGAGGCGGGGGGGCGGGAGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGCG GGGGGGAGGGAGGGGAAGGAGGCGGGGGGGCGGGAGGGGGAGGACGCGGG GGGGGCGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGA GGCGGGAGGGGAAGGAGGCGGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0089 a0001c0002t0008g0089	1	25	0.0400	493	c.914 others(512): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCG CCTCCTTCCCCTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCT CCCGCCCCCCCCGCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCGCCTC CTTCCCCTCCCTCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCGCCCCC TCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCC GCCCCTCCCGCCCCCCCGCCCCCCCCGCCTCCTCCCCCTCCGGCCCCCTC CCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCC CCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCC CCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGC CTCCTCCCCCTCCCGCCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCT CCCCCCTGCCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(486): Show CGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGG GGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGGGGGGGC GGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGG AGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGGG GAGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGG CGGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGG GGAGGCGGGGGGGCGGGAGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGCG GGGGGGAGGGAGGGGAAGGAGGCGGGGGGGGCGGGAGGGGGAGGACGCGG GGGGGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGA GGCGGGAGGGGAAGGAGGCGGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0048 a0001c0001t0007g0048	1	25	0.0400	493	c.914 others(512): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCG CCTCCTTCCCCTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCT CCCGCCCCCCCGCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCCGCCTC CTTCCCCTCCCTCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCGCCCCC TCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCC GCCCCTCCCGCCCCCCCGCCCCCCCCGCCTCCTCCCCCTCCGGCCCCCTC CCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCC CCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCC CCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGC CTCCTCCCCCTCCCGCCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCT CCCCCCTGCCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(486): Show CGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGG GGTGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGGGGGGGCG GGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGA GGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGGGG AGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGC GGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGG GAGGCGGGGGGGCGGGAGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGCGG GGGGGAGGGAGGGGAAGGAGGCGGGGGGGGCGGGAGGGGGAGGACGCGGG GGGGGCGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGA GGCGGGAGGGGAAGGAGGCGGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0006 a0001c0002t0027g0006	1	25	0.0400	493	c.914 others(512): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCG CCTCCTTCCCCTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCT CCCGCCCCCCCCGCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCCGCCT CCTTCCCCTCCCTCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCGCCCC CTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCC CGCCCCTCCCGCCCCCCCGCCCCCCCCGCCTCCTCCCCCTCCGGCCCCCT CCCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGC CCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCC CCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCG CCTCCTCCCCCTCCCACCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCT CCCCCCTGCCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
TBC1D22A_chr22_46757650_47180693	47128195	T T	TCCCTCCA others(486): Show TCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCCC ATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATC CCCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACC CATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCC TCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCAC CCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCC TCCGCCCCACCCATCCCTCCCTCCCCCCACCCATCCCTCCCTCCGCCCCA CCCATCCCTCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCCCC CTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCCT CCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0033 a0001c0004t0020g0033	1	61	0.0164	493	c.142 others(514): Show c.1425+16598_1425+16599insACCCCACCCATCCCCCATCCTCCC TCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCCCATCC TCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCCC ATCCTCCCTCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCCCT CCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTAC CCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCT CCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCCCCCACC CATCCCTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACCACCCC TCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCATCCTCCCTCC ACCCCACCCATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTCCAC CCCACCCATCCTCCCCTCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TERT_chr5_1248167_1300068	1276057	G G	GAAAACCA others(486): Show GAAAACCAATCCCACAGATCCCCACCTACCCCACACATGAAAACCAACTC CACAGATCCCCACCTATCCCACACATGAAAACCAATCCCACAGATCCCCA CCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTATCCCACAC ATGAAAACCAATCCCACAGATCCCCACGTACCACACACATAAAAACCAAT CCCACAGGTCCCCACCTACCCCGCACATGAAAACCAATCCCACAGATCCC CACCTACCCCACACATAAAAACCAATCCCACAGATCCCCACCTACCCCAC GGATGAAAACCAATTCACAGATCTCCACCTACACCACACATGAAAACCAA CTCCACAGATCCCCACCTATCCCACACATGAAAACCAATCCCACAGATCC CCACCTACCCCACACATGAAAACCAATCCCAAAGATCCCCACATACCCCA CACATGAAAACCAATCCCACAGATCCCCACATACCCCACACATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0009 a0002c0009t0001g0009	1	315	0.0032	493	c.228 others(512): Show c.2286+2583_2286+2584insTATGTGTGGGGTATGTGGGGATCTGT GGGATTGGTTTTCATGTGTGGGGTATGTGGGGATCTTTGGGATTGGTTTT CATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGAT AGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGTGTAGGTGGAGATCT GTGAATTGGTTTTCATCCGTGGGGTAGGTGGGGATCTGTGGGATTGGTTT TTATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGCGGGG TAGGTGGGGACCTGTGGGATTGGTTTTTATGTGTGTGGTACGTGGGGATC TGTGGGATTGGTTTTCATGTGTGGGATAGGTGGGGATCTGTGGGATTGGT TTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGG GATAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGGGTAGGTGGGGA TCTGTGGGATTGGTTTT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1276057	G G	GAAAACCA others(486): Show GAAAACCAATCCCACAGATCCCCACCTACCCCACACATGAAAACCAATCC CACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCA CCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTATCCCACAC ATGAAAACCAATCCCACAGATCCCCACGTACCACACACATAAAAACCAAT CCCACAGGTCCCCACCTACCCCGCACATGAAAACCAATCCCACAGATCCC CACCTACCCCACACATAAAAACCAATCCCACAGATCCCCACCTACCCCAC GGATGAAAACCAATTCACAGATCTCCACCTACACCACACATGAAAACCAA CTCCACAGATCCCCACCTATCCCACACATGAAAACCAATCCCACAGATCC CCACCTACCCCACACATGAAAACCAATCCCAAAGATCCCCACATACCCCA CACATGAAAACCAATCCCACAGATCCCCACATACCCCACACATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	315	0.0032	493	c.228 others(512): Show c.2286+2583_2286+2584insTATGTGTGGGGTATGTGGGGATCTGT GGGATTGGTTTTCATGTGTGGGGTATGTGGGGATCTTTGGGATTGGTTTT CATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGAT AGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGTGTAGGTGGAGATCT GTGAATTGGTTTTCATCCGTGGGGTAGGTGGGGATCTGTGGGATTGGTTT TTATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGCGGGG TAGGTGGGGACCTGTGGGATTGGTTTTTATGTGTGTGGTACGTGGGGATC TGTGGGATTGGTTTTCATGTGTGGGATAGGTGGGGATCTGTGGGATTGGT TTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGG GGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGA TCTGTGGGATTGGTTTT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1276057	G G	GAAAACCA others(486): Show GAAAACCAATCCCACAGATCCCCACCTACCCCACACATGAAAACCAATCC CACAGATCTCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCA CCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTATCCCACAC ATGAAAACCAATCCCACAGATCCCCACGTACCACACACATAAAAACCAAT CCCACAGGTCCCCACCTACCCCGCACATGAAAACCAATCCCACAGATCCC CACCTACCCCACACATAAAAACCAATCCCACAGATCCCCACCTACCCCAC GGATGAAAACCAATTCACAGATCTCCACCTACACCACACATGAAAACCAA CTCCACAGATCCCCACCTATCCCACACATGAAAACCAATCCCACAGATCC CCACCTACCCCACACATGAAAACCAATCCCAAAGATCCCCACATACCCCA CACATGAAAACCAATCCCACAGATCCCCACATACCCCACACATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp2 HG01071.hp1 others(66): Show HG00280.hp1 HG00609.hp2 HG01071.hp1 HG01074.hp2 HG01255.hp1 HG01346.hp2 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp2 HG02040.hp2 HG02155.hp1 HG02523.hp1 HG02523.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18948.hp2 NA18963.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18980.hp1 NA18995.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19060.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19085.hp1 NA19090.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0014 a0001c0017 a0001c0026	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0005 a0001c0004t0001 a0001c0006t0001 a0001c0014t0001 a0001c0017t0002 a0001c0026t0001	a0001c0001t0001g0118 a0001c0001t0001g0138 a0001c0001t0001g0156 others(65): Show a0001c0001t0001g0118 a0001c0001t0001g0138 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0254 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0327 a0001c0001t0001g0353 a0001c0001t0001g0369 a0001c0001t0001g0380 a0001c0001t0002g0224 a0001c0002t0001g0001 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0042 a0001c0002t0001g0053 a0001c0002t0001g0057 a0001c0002t0001g0061 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0097 a0001c0002t0002g0017 a0001c0003t0001g0176 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0303 a0001c0003t0001g0304 a0001c0003t0005g0305 a0001c0004t0001g0023 a0001c0004t0001g0030 a0001c0004t0001g0031 a0001c0004t0001g0072 a0001c0006t0001g0214 a0001c0014t0001g0111 a0001c0017t0002g0197 a0001c0026t0001g0384	69	383	0.1802	493	c.228 others(512): Show c.2286+2583_2286+2584insTATGTGTGGGGTATGTGGGGATCTGT GGGATTGGTTTTCATGTGTGGGGTATGTGGGGATCTTTGGGATTGGTTTT CATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGAT AGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGTGTAGGTGGAGATCT GTGAATTGGTTTTCATCCGTGGGGTAGGTGGGGATCTGTGGGATTGGTTT TTATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGCGGGG TAGGTGGGGACCTGTGGGATTGGTTTTTATGTGTGTGGTACGTGGGGATC TGTGGGATTGGTTTTCATGTGTGGGATAGGTGGGGATCTGTGGGATTGGT TTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGG GGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGA TCTGTGGGATTGGTTTT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1276057	G G	GAAAACCA others(486): Show GAAAACCAATCCCACAGATCCCCACCTACCCCACACATGAAAACCAATCC CACAGATCTCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCA CCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTATCCCACAC ATGAAAACCAATCCCACAGATCCCCACGTACCACACACATAAAAACCAAT CCCACAGGTCCCCACCTACCCCGCACATGAAAACCAATCCCACAGATCCC CACCTACCCCACACATAAAAACCAATCCCACAGATCCCCACCTACCCCAC GGATGAAAACCAATTCACAGATCTCCACCTACACCACACATGAAAACCAA TTCCACAGATCCCCACCTATCCCACACATGAAAACCAATCCCACAGATCC CCACCTACCCCACACATGAAAACCAATCCCAAAGATCCCCACATACCCCA CACATGAAAACCAATCCCACAGATCCCCACATACCCCACACATA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	315	0.0032	493	c.228 others(512): Show c.2286+2583_2286+2584insTATGTGTGGGGTATGTGGGGATCTGT GGGATTGGTTTTCATGTGTGGGGTATGTGGGGATCTTTGGGATTGGTTTT CATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGAT AGGTGGGGATCTGTGGAATTGGTTTTCATGTGTGGTGTAGGTGGAGATCT GTGAATTGGTTTTCATCCGTGGGGTAGGTGGGGATCTGTGGGATTGGTTT TTATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGCGGGG TAGGTGGGGACCTGTGGGATTGGTTTTTATGTGTGTGGTACGTGGGGATC TGTGGGATTGGTTTTCATGTGTGGGATAGGTGGGGATCTGTGGGATTGGT TTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGG GGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGA TCTGTGGGATTGGTTTT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1276057	G G	GAAAACCA others(486): Show GAAAACCAATCCCACAGATCCCCACCTACCCCACACATGAAAACCAGTCC CACAGATCTCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCA CCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTATCCCACAC ATGAAAACCAATCCCACAGATCCCCACGTACCACACACATAAAAACCAAT CCCACAGGTCCCCACCTACCCCGCACATGAAAACCAATCCCACAGATCCC CACCTACCCCACACATAAAAACCAATCCCACAGATCCCCACCTACCCCAC GGATGAAAACCAATTCACAGATCTCCACCTACACCACACATGAAAACCAA CTCCACAGATCCCCACCTATCCCACACATGAAAACCAATCCCACAGATCC CCACCTACCCCACACATGAAAACCAATCCCAAAGATCCCCACATACCCCA CACATGAAAACCAATCCCACAGATCCCCACATACCCCACACATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01261.hp2 HG02451.hp1 others(1): Show HG01099.hp2 HG01261.hp2 HG02451.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0201 a0001c0001t0002g0200 a0001c0001t0002g0202 others(1): Show a0001c0001t0001g0201 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0372	4	318	0.0126	493	c.228 others(512): Show c.2286+2583_2286+2584insTATGTGTGGGGTATGTGGGGATCTGT GGGATTGGTTTTCATGTGTGGGGTATGTGGGGATCTTTGGGATTGGTTTT CATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGAT AGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGTGTAGGTGGAGATCT GTGAATTGGTTTTCATCCGTGGGGTAGGTGGGGATCTGTGGGATTGGTTT TTATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGCGGGG TAGGTGGGGACCTGTGGGATTGGTTTTTATGTGTGTGGTACGTGGGGATC TGTGGGATTGGTTTTCATGTGTGGGATAGGTGGGGATCTGTGGGATTGGT TTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGG GGTAGGTGGAGATCTGTGGGACTGGTTTTCATGTGTGGGGTAGGTGGGGA TCTGTGGGATTGGTTTT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	376741	T T	TCTGTGCC others(486): Show TCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTC CCCCTGTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGC CTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCTGTGTGCCCCCACC CAGCCTCTCCCCCTGTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCC CACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCTCGTGTGCC CCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGC CCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	315	0.0032	493	c.-77 others(502): Show c.-772_-771insGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGC TGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGG CTGGGTGGGGCACACGAGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAG GCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGA GGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACACAGGGGG AGAGGCTGGGTGGGGGCACACAGGGGGAGAGGCTGGGTGGAGGCACGGGG GGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CACAGGGGGAGAGGCTGGGTGGAGGCACGGGGGGGGAGAGGCTGGGTGGG GGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		716		chr19	TogoVar
THEG_chr19_356747_381026	376743	T T	TGTGCCCC others(486): Show TGTGCCCCACCCAGCCTCTCCCCCGTGTGCCCCACCCAGCCTCTCCCCCC TGTGCCCCACCCAGCCTCTCCCCCCCGTGCCCCACCCAGCCTCTCCCCCC CGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCC TCTGTACCCCACCCAGCCTGTCCCCCTCTGTGCCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTC TCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCCCCGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGC CTCTCCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	334	0.0030	493	c.-77 others(502): Show c.-774_-773insGGGGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGG GGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACGGGGGGGGGAGAGGCTGGGTGGGGCAC AGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGACAGGCTGGGTGG GGTACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGT GGGGCACGGGGGGGAGAGGCTGGGTGGGGCACGGGGGGGAGAGGCTGGGT GGGGCACAGGGGGGAGAGGCTGGGTGGGGCACACGGGGGAGAGGCTGGGT GGGGCAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		718		chr19	TogoVar
TP53AIP1_chr11_128930370_128947871	128930531	G G	GTTAGGGA others(486): Show GTTAGGGAGACCAAGGGTTAGGAAGGCCAGGGATTAGGGAGGCCGGGGTT AGGGAGGCTGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCAGGGGTTAGGG AGGCCGGGGTTAGGGAGACCAAGGGTTAGGAAGGCCAGGGATTAGGGAGG CTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCAGG GATTAGGGAGGCCGGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTCAGGGAGGCCAGGGGTCAGGGAGGCCAGGGGTTAGGGAGG CCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGTCAGG GGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0016	1	408	0.0025	493	c.50 others(504): Show c.5059_*5060insACCCTGGCCTCCCTGACCCTTGGTCTCCCTAACC CCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCTGACCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCC CTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCCTGGCCTCCCTG ACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCCGGCCTCCCTAACCC CGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCCGGC CTCCCTAATCCCTGGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCCTCC CTAACCCCAGCCTCCCTAATCCCTGGCCTTCCTAACCCTTGGTCTCCCTA ACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCTGGCCTCCCTAACCC CAGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTTCCTAACCCTTGG TCTCCCTAA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4838		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930531	G G	GTTAGGGA others(486): Show GTTAGGGAGACCAAGGGTTAGGAAGGCCAGGGATTAGGGAGGCCGGGGTT AGGGAGGCTGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCAGGGGTTAGGG AGGCCGGGGTTAGGGAGACCAAGGGTTAGGAAGGCCAGGGATTAGGGAGG CTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCAGG GATTAGGGAGGCCGGGGATTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTCAGGGAGGCCAGGGGTCAGGGAGGCCAGGGGTTAGGGAGG CCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGTCAGG GGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	408	0.0025	493	c.50 others(504): Show c.5059_*5060insACCCTGGCCTCCCTGACCCTTGGTCTCCCTAACC CCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCTGACCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCC CTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCCTGGCCTCCCTG ACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCCGGCCTCCCTAACCC CGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAATCCCCGGC CTCCCTAATCCCTGGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCCTCC CTAACCCCAGCCTCCCTAATCCCTGGCCTTCCTAACCCTTGGTCTCCCTA ACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCTGGCCTCCCTAACCC CAGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTTCCTAACCCTTGG TCTCCCTAA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4838		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930619	C C	CTGGGGGT others(486): Show CTGGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCC TAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGG GTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAG GGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCA AGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGG TTAGGGAGGCCGGGGTTAGAGAGGCCGGGGTTAGGGAGACCAAGGGTCAG GGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAG GCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCG GGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	393	0.0025	493	c.49 others(504): Show c.4971_*4972insCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTC TCCCTAACCCCGGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCT AACCCCTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATC CCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCTCTAACCCCG GCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCT CCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACC CTTGGTCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAG CCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTC CCTAACCCTAGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCC TAACCCCCA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4750		chr11	TogoVar
TPO_chr2_1408463_1548673	1422358	C C	CGCCGCGC others(486): Show CGCCGCGCTGGACTGACCTCGTGCAGCCGCCTCTCCTGGACAGACTTCGT GCAGGTGCCGCGCTGGACCGACCTCGTGCAGGCGCCGCGCTGGACCGACC TCGTGCAGCCGCCTCTCCTGGACAGACCTCGTGCAGGCGCCGCGCTGGAC CGACCTCGTGCAGCCGCCTCTCCTGGACAGACTTCGTGCAGGTGCCGCGC TGGACCGACCTCGTGCAGGCGCCGCGCTGGACCGACCTCGTGCAGGCGCC GCGCTGGACCGACCTCGTGCAGCCGCCTCTCCTGGACAGACCTCGTGCAG GCGCCGCGCTGGACTGACCTCGTGCAGCCGCCTCTCCTGGACAGACCTCG TGCAGGCGCCGCGCTGGACAGACCTAGTGCAGGTGCCGCGCTGGACAGAC CTCGTGCAGGCGCCTCTCCTGGACAGACCTCGTGCAGGCGCCGCGCTGGA CTGACCTCGTGCAGGCGCCTCTCCTGGACAGACCTCGTGCAGGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03209.hp2 HG06807.hp1 HG02630.hp2 HG03209.hp2 HG06807.hp1	a0002 a0018 a0002 a0018	a0002c0002 a0018c0019 a0002c0002 a0018c0019	a0002c0002t0001 a0002c0002t0003 a0018c0019t0004 a0002c0002t0001 a0002c0002t0003 a0018c0019t0004	a0002c0002t0001g0006 a0002c0002t0003g0053 a0018c0019t0004g0007 a0002c0002t0001g0006 a0002c0002t0003g0053 a0018c0019t0004g0007	3	75	0.0400	493	c.95- others(506): Show c.95-675_95-674insTGACCTCGTGCAGCCGCCTCTCCTGGACAGAC TTCGTGCAGGTGCCGCGCTGGACCGACCTCGTGCAGGCGCCGCGCTGGAC CGACCTCGTGCAGCCGCCTCTCCTGGACAGACCTCGTGCAGGCGCCGCGC TGGACCGACCTCGTGCAGCCGCCTCTCCTGGACAGACTTCGTGCAGGTGC CGCGCTGGACCGACCTCGTGCAGGCGCCGCGCTGGACCGACCTCGTGCAG GCGCCGCGCTGGACCGACCTCGTGCAGCCGCCTCTCCTGGACAGACCTCG TGCAGGCGCCGCGCTGGACTGACCTCGTGCAGCCGCCTCTCCTGGACAGA CCTCGTGCAGGCGCCGCGCTGGACAGACCTAGTGCAGGTGCCGCGCTGGA CAGACCTCGTGCAGGCGCCTCTCCTGGACAGACCTCGTGCAGGCGCCGCG CTGGACTGACCTCGTGCAGGCGCCTCTCCTGGACAGACCTCGTGCAGGTG CCGCGCTGGAC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAF6_chr11_36478769_36515272	36507456	A A	ATATGTAT others(486): Show ATATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATA TATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTATA CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATAATGTATATATACATGTA TTATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAAT GTATAATGTATATATACATTATACATACGTAAATGTATAATGTATATATA CATTATACATACGTAAATGTATAATGTATATATACATTATACATACGTAA ATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTATATA TACATTATACATACGTAAATGTATTATACATAAATGTATATATG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0219 a0001c0001t0006g0219	1	30	0.0333	493	c.-23 others(510): Show c.-23+2591_-23+2592insCATATATACATTTATGTATAATACATTT ACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATGTA TATATACATTATACATTTACGTATGTATAATGTATATATACATTATACAT TTACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATG TATATATACATTATACATTTACGTATGTATAATGTATATATACATTATAC ATTTACGTATGTATAATACATGTATATATACATTATACATTTACGTATGT ATAATACATGTATATATACATATATACATTTACGTATGTATAATACATGT ATATATACATATATACATTTACGTATGTATAATACATGTATATATACATA TATACATTTACGTATGTATAATACATGTATATATACATATATACATTTAC GTATGTATAATACATATATATACATATATACATTTACGTATGTATAATAC ATGTATATATACATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507507	G G	GTATTATA others(486): Show GTATTATACATACGTAAATGTATATATGTATATATACATGTATTATACAT ACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTA TATATGTATATATACATTATACATACGTAAATGTATATATGTATATATAC ATTATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAA TGTATAATGTATATATACATTATACATACGTAAATGTATAATGTATATAT ACATTATACATACGTAAATGTATAATGTATATATACATTATACATACGTA AATGTATAATGTATATATACATTATACATACGTAAATGTATGTATATATA CATTATACATACGTAAATGTATTATACATAAATGTATATATGTATATATA CATGTATTATACATACATAAATGTATATATGTATATATACATGTATTATA CATACATAAATGTATATATGTATATATACATGTATGCACGTATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18940.hp2 HG02257.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0060 a0001c0001t0001g0061	2	271	0.0074	493	c.-23 others(510): Show c.-23+2540_-23+2541insTATACGTGCATACATGTATATATACATA TATACATTTATGTATGTATAATACATGTATATATACATATATACATTTAT GTATGTATAATACATGTATATATACATATATACATTTATGTATAATACAT TTACGTATGTATAATGTATATATACATACATTTACGTATGTATAATGTAT ATATACATTATACATTTACGTATGTATAATGTATATATACATTATACATT TACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATGT ATATATACATTATACATTTACGTATGTATAATGTATATATACATTATACA TTTACGTATGTATAATGTATATATACATATATACATTTACGTATGTATAA TGTATATATACATATATACATTTACGTATGTATAATACATGTATATATAC ATATATACATTTACGTATGTATAATACATGTATATATACATATATACATT TACGTATGTATAATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TXNDC16_chr14_52425596_52557505	52530417	A A	ATAATAAT others(486): Show ATAATAATATAATATATATTATTATATATTATTATATATAATAATATAAT ATATATTATTATATATTATTATATATAATAACATAATATATATTATTATA TATAATTATATATAATAATATAATATATATTATATATAATATTATATAAT AATATAATATATATTATTATATATATTATATAATAATATAATATATATTA TTATATATTATTATATATAATTATATATAATAATATAATATATATAATAT TATTATATATAATAATATAATATATATTATTATATATTATTATATATAAT AATATAATATATATTATTATATATAATTATATATAATAATATATATTATA TTATTATATATAATTATATATAATAATATATATATTATTATATATAATTA TATATAATATATATATATTATTATATATAATTATATATAATAATATATAT ATTATTATATATAATTATATATAATAATATATATATATTATTAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	222	0.0045	493	c.392 others(510): Show c.392+6301_392+6302insATAATAATATATATATATTATTATATAT AATTATATATAATAATATATATATTATTATATATAATTATATATAATAAT ATATATATATTATATATAATTATATATAATAATATATATATTATTATATA TAATTATATATAATAATATAATATATATTATTATATATAATTATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATTATATATATTATATTATTATATATAATTAT ATATAATAATATATAATAATATATATTATATTATTATATAATATATATAA TAATATATATTATATTATTATATAATATTATATATAATATATATTATATT ATTATATATAATTATATATAATAATATATATTATGTTATTATATATAATA ATATATAATAATATATATTATATTATTATATATAATAATATATAATAATA TATATTATATTATTA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UMAD1_chr7_7635752_7884223	7679372	T T	TACATGTT others(486): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATA TTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0224 a0001c0001t0040g0224	1	71	0.0141	493	c.82+ others(508): Show c.82+5920_82+5921insCATGTTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATAT TTAGTTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTT ATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTT AATTTATAGATAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UNC5C_chr4_95157504_95553973	95196869	T T	TTATGTAA others(486): Show TTATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATT TATATATTATATTTATGTAATATATAATATTTATATATTATATTTATGTA ATATATAATATTTATATATTATATTTATGTAATATATAATATTTATATAT TATATTTATGTAATATATAATATTTATATATTATATTTATGTAATATATA ATATTTATATATATTTATGTAATATATAATATTTATATATTATATTTATG TAATATATAATATTTATATATATTTATGTAATATATAATATTTATATATA TTTATGTAATATATAATATTTATATATATTTATGTAATATATAATATTTA TATATATTTATGTAATATATAATATTTATATATTATATTTATGTAATATA TAATATATATTTATATATTATATTTATGTAATATATAATATATATTTATA TATTATATGTATGTAATATATAATATATATTTATATATTATATG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0004 a0004	a0004c0022 a0004c0022	a0004c0022t0015 a0004c0022t0015	a0004c0022t0015g0024 a0004c0022t0015g0024	1	185	0.0054	493	c.213 others(512): Show c.2136+5861_2136+5862insCATATAATATATAAATATATATTATA TATTACATACATATAATATATAAATATATATTATATATTACATAAATATA ATATATAAATATATATTATATATTACATAAATATAATATATAAATATTAT ATATTACATAAATATATATAAATATTATATATTACATAAATATATATAAA TATTATATATTACATAAATATATATAAATATTATATATTACATAAATATA TATAAATATTATATATTACATAAATATAATATATAAATATTATATATTAC ATAAATATATATAAATATTATATATTACATAAATATAATATATAAATATT ATATATTACATAAATATAATATATAAATATTATATATTACATAAATATAA TATATAAATATTATATATTACATAAATATAATATATAAATATTATATATT ACATAAATATAATATATAAATATTATATATTACATAAATATAATATATAA ATATTATATATTACATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(486): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTC TCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCC TCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCC CCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCC CCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCT CCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG01346.hp1 others(8): Show HG00099.hp1 HG00642.hp1 HG01346.hp1 HG01433.hp2 HG02083.hp2 HG02148.hp1 HG02273.hp2 HG02293.hp2 NA18947.hp2 NA19088.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0004c0004t0004	a0001c0001t0001g0031 a0001c0001t0001g0145 a0001c0001t0001g0153 others(8): Show a0001c0001t0001g0031 a0001c0001t0001g0145 a0001c0001t0001g0153 a0001c0001t0001g0168 a0001c0001t0002g0045 a0001c0001t0002g0162 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0232 a0001c0001t0006g0044 a0004c0004t0004g0147	11	43	0.2558	493	c.53- others(506): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTC CTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCC TCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCC TCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTC CCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCC CCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC CCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(486): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01081.hp2 HG01884.hp2 others(1): Show HG00609.hp2 HG01081.hp2 HG01884.hp2 NA18977.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0013 a0002c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0013 a0002c0002t0003 a0004c0004t0001	a0001c0001t0001g0123 a0001c0001t0013g0110 a0002c0002t0003g0109 others(1): Show a0001c0001t0001g0123 a0001c0001t0013g0110 a0002c0002t0003g0109 a0004c0004t0001g0124	4	36	0.1111	493	c.53- others(506): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTC CCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTC CCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC CCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(486): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCT CTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCC TCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCC TCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCC TCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCT CCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCC CCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0120 a0010c0012t0001g0120	1	33	0.0303	493	c.53- others(506): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCC TCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCC TCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCC TCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCC CTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCC CCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCC CCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCC CCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC CCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR81_chr17_1719704_1743585	1739135	A A	AGCCTGAT others(486): Show AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAACAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAG GAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAAGGAGCCTGATTCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGA GGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA19079.hp2 NA18956.hp1 NA19079.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0002 a0003c0005t0003g0063 a0003c0005t0003g0002 a0003c0005t0003g0063	2	304	0.0066	493	c.14 others(504): Show c.1450_*1451insGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCT GATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATTCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA GCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGG ACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAGGCG	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		551		chr17	TogoVar
WDR87_chr19_37879823_37911594	37881089	A A	AATATATA others(486): Show AATATATATATATTATATATATATATATAATATATATAATATATATATAA TATATATATATTATATATATTATATATATTATATATATTATATATATATT ATATATATATTATATATATATAATATATATAATATATATATAATATATAT TATATATATAATATATATATATTATATATATAATATATATATTTAATATA TATATTATATATAATATATATATTATATATATAATATATATATTTAATAT ATATTATATATATAATATATATATTATATATATAATATATATTTAATATA TATATTATATATATAATATATATATTATATATATATAATATATATATTTA ATATATATAATATATATATAATATATATTATATATATAATATATATATTT AATATATATTATATATATAATATATATATTATATATATAATATATATATA ATATATATATTATATATATAATATATATATTATATATATATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0016 a0003c0009t0001g0016	1	134	0.0075	493	c.38 others(504): Show c.3842_*3843insATAATATATATATAATATATATATTATATATATA ATATATATATTATATATATATTATATATATAATATATATATTATATATAT AATATATATTAAATATATATATTATATATATAATATATATTATATATATA TTATATATATTAAATATATATATTATATATATATAATATATATATTATAT ATATAATATATATATTAAATATATATTATATATATAATATATATATTATA TATATAATATATATTAAATATATATATTATATATATAATATATATATTAT ATATAATATATATATTAAATATATATATTATATATATAATATATATATAT TATATATATAATATATATTATATATATATTATATATATTATATATATATA ATATATATATAATATATATATAATATATATAATATATATAATATATATAA TATATATATATTATATATATATTATATATATTATATATATATATATAATA TATATATAT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3733		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TATAATAT others(486): Show TATAATATATATATAATATATATATATTATATATATATTATATATATTAT ATATATTATATATATATTATATATATATTATATATATATAATATAATATT ATATATATAATATATATTATATATATAATATATATATATTATATATATAA TATATATATTTAATATATATATTATATATATAATATATATTATATATATA ATATATATATTTAATATATATTATATATATAATATATATATTATATATAT AATATATATATAATATATATATTATATATATTATATATATATTATATATA TATAATATATATATTTAATATATATATTATATATATAATATATATTATAT ATATAATATATATATTTAATATATATTATATATATAATATATATATTATA TATATAATATATATAAAATATATATATTATATATATAATATATATATTAT ATATATATTATATATATATTATATATATATAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0005 a0003c0004t0001g0005	1	49	0.0204	493	c.37 others(504): Show c.3793_*3794insCTCTCTCTCTCTCTATATATATATAATATATATA TAATATATATATAATATATATATTATATATATAATATATATATTTTATAT ATATTATATATATAATATATATATTATATATATAATATATATTAAATATA TATATTATATATATAATATATATTATATATATAATATATATATTAAATAT ATATATTATATATATATAATATATATATAATATATATAATATATATATTA TATATATATTATATATATAATATATATATTATATATATAATATATATTAA ATATATATATTATATATATAATATATATTATATATATAATATATATATTA AATATATATATTATATATATAATATATATATATTATATATATAATATATA TTATATATATAATATTATATTATATATATATAATATATATATAATATATA TATAATATATATAATATATATAATATATATATAATATATATATATTATAT ATATATTAT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
ZNF30_chr19_34921903_34950168	34923077	A A	ATATATAA others(486): Show ATATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAA CTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATA TAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTAT ATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGT TATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACA TAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGT ATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGT TATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACT TGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01993.hp1 HG02602.hp2 others(7): Show HG01106.hp1 HG01993.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG03017.hp1 HG04228.hp1 NA18946.hp2 NA18954.hp1 NA19056.hp2	a0003 a0005 a0007 others(1): Show a0003 a0005 a0007 a0012	a0003c0003 a0005c0005 a0007c0007 others(1): Show a0003c0003 a0005c0005 a0007c0007 a0012c0015	a0003c0003t0002 a0005c0005t0002 a0007c0007t0002 others(1): Show a0003c0003t0002 a0005c0005t0002 a0007c0007t0002 a0012c0015t0002	a0003c0003t0002g0002 a0003c0003t0002g0006 a0003c0003t0002g0016 others(5): Show a0003c0003t0002g0002 a0003c0003t0002g0006 a0003c0003t0002g0016 a0003c0003t0002g0084 a0003c0003t0002g0174 a0005c0005t0002g0002 a0007c0007t0002g0010 a0012c0015t0002g0035	10	311	0.0322	493	c.-42 others(504): Show c.-4204_-4203insTATATAACATAACTTGTTATGTTATATTGTATAT AACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATA TTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTT ATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACAT AACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTA TATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTT ATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTT GTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAA CATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATT GTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTG	ZNF30	ENSG00000168661.15	transcript	ENST00000601142.2	protein_coding		3825		chr19	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(486): Show CATATATCATATACATCATATACATCACATATATCATATACATCATATAC ATCACATATATCATATACATCATATACATCACATATATGATATATACATC ATATACATCACATATATGATATATATATCATATATATCACATATATGATA TATATATCATATATATCACATATATGATATATATATCATATATCACATAT ATGATATATATATCATATATCACATATATGATATATATATCATATATATC ATATGATATATATCATATATATCACATATATGATATATATCACATGTGAT ATATAGCATATATATCATGCTATACATCATATATGATATATATGATATAT ATCACGTATGCTATATAGCATATGTGATATATATGATATATATCACATAT GCTATATAGCATATGTGATATATATGATATATATCACATATGCTATATAT CATATGTGATATATATGATATATATCACATATGCTATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	30	0.0333	493	c.-36 others(504): Show c.-3631_-3630insATATATCATATACATCATATACATCACATATATC ATATACATCATATACATCACATATATCATATACATCATATACATCACATA TATGATATATACATCATATACATCACATATATGATATATATATCATATAT ATCACATATATGATATATATATCATATATATCACATATATGATATATATA TCATATATCACATATATGATATATATATCATATATCACATATATGATATA TATATCATATATATCATATGATATATATCATATATATCACATATATGATA TATATCACATGTGATATATAGCATATATATCATGCTATACATCATATATG ATATATATGATATATATCACGTATGCTATATAGCATATGTGATATATATG ATATATATCACATATGCTATATAGCATATGTGATATATATGATATATATC ACATATGCTATATATCATATGTGATATATATGATATATATCACATATGCT ATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3527		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(486): Show CATATATCATATACATCATATACATCACATATATCATATACATCATATAC ATCACATATATCATATACATCATATACATCACATATATGATATATACATC ATATATATCACATATATGATATATATATCATATATATCACATATATGATA TATATCATATATATCACATATATGATATATATATCATATATCACATATAT GATATATATATCATATATCACATATATGATATATATATCATATATATCAT ATGATATATATCATATATATCACATATATGATATATATCACATGTGATAT ATAGCATATATATCATGCTATACATCATATATGATATATATGATATATAT CACGTATGCTATATAGCATATGTGATATATATGATATATATCACATATGC TATATAGCATACGTGATATATATGATATATATCACATATGCTATATATCA TATGTGATATATATGATATATATCACATATATGATACATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG02148.hp2 HG01978.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0157 a0001c0001t0002g0153 a0001c0001t0002g0157	2	31	0.0645	493	c.-36 others(504): Show c.-3631_-3630insATATATCATATACATCATATACATCACATATATC ATATACATCATATACATCACATATATCATATACATCATATACATCACATA TATGATATATACATCATATATATCACATATATGATATATATATCATATAT ATCACATATATGATATATATCATATATATCACATATATGATATATATATC ATATATCACATATATGATATATATATCATATATCACATATATGATATATA TATCATATATATCATATGATATATATCATATATATCACATATATGATATA TATCACATGTGATATATAGCATATATATCATGCTATACATCATATATGAT ATATATGATATATATCACGTATGCTATATAGCATATGTGATATATATGAT ATATATCACATATGCTATATAGCATACGTGATATATATGATATATATCAC ATATGCTATATATCATATGTGATATATATGATATATATCACATATATGAT ACATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3527		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370948	C C	CATATATG others(486): Show CATATATGATATATATCATATGTGATATATATCATATATATCACATATAT GATATATATCATATGTGATATATATCATATATATCACATATATGATATAT ATCATGTGATATATATAGCATATATATCATATGTGATATATATCATATAT ATCACATATGATATATATCATATATGTGATATATATGATATATAGCATAT ATATCATATGTGATATATAGCATATATATCATATGTGATATATAGCATAT ATATCATATGTGATATATAGCATATATATCATATATCATATATATCATAT ATATCATATATCATATATATCATATATATCATATATCATATATATCATAT ATATCATATATCATATATCATATATATCATATATCATATATCATATATAT CATATATCATATATATCATATGTGATATATATGATATATATGATATATAT GATATATATGATATATAGTGATATATATCATATATATGTGATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0104 a0001c0001t0008g0104	1	53	0.0189	493	c.-35 others(504): Show c.-3524_-3523insATATATGATATATATCATATGTGATATATATCAT ATATATCACATATATGATATATATCATATGTGATATATATCATATATATC ACATATATGATATATATCATGTGATATATATAGCATATATATCATATGTG ATATATATCATATATATCACATATGATATATATCATATATGTGATATATA TGATATATAGCATATATATCATATGTGATATATAGCATATATATCATATG TGATATATAGCATATATATCATATGTGATATATAGCATATATATCATATA TCATATATATCATATATATCATATATCATATATATCATATATATCATATA TCATATATATCATATATATCATATATCATATATCATATATATCATATATC ATATATCATATATATCATATATCATATATATCATATGTGATATATATGAT ATATATGATATATATGATATATATGATATATAGTGATATATATCATATAT ATGTGATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3420		chr10	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(487): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATA TTTATAAATATATAAATATTTTTATATTTATAGATAAATATATCAATATT TTTATATTTATAGATAAATATATCAATATTTTTATATTTATAGATAAATA TATCAATATATAAATATTTTTATATTTATAGATAAATATATCAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAATATATA AATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	228	0.0044	494	c.130 others(513): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTAT CTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAATATAA AAATATTTATATATTGATATATTTATCTATAAATATAAAAATATTGATAT ATTTATCTATAAATATAAAAATATTGATATATTTATCTATAAATATAAAA ATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAA AAATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAATAT AAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTATCTAT AAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABR_chr17_998519_1184981	1118482	T T	TCCCAGCG others(487): Show TCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCC GGAGTTCCTCCCAGCATTATCCCTGAACCCGAGTTCCTCCCAGCGTTATC CCTGAGCCCGAGTTCCTCCCAGCATTATCCCTGAGCCCGAGTTCCTCCCA GCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGT TCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCCAGCGTTATCCCTG AGCCTGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGT TATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTC CCAGCGTTATCCCTGAGCCTGAGTCCCTCCCAGCGTTATTGCCTGAGCCT GAGTCCCTCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCATTATCC CTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0244 a0001c0001t0014g0244	1	254	0.0039	494	c.246 others(511): Show c.246+6700_246+6701insGAGAACTCAGGCTCAGGGATAACGCTGG GAGGAACTCAGGCTCAGGGATAATGCTGGGAGGAACTCAGGCTCAGGGTT AACGCTGGGAGGGACTCAGGCTCAGGCAATAACGCTGGGAGGGACTCAGG CTCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGATAACGCTGGGGAGA ACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGTTAACGC TGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAACTCGGGCTCAG GGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTC GGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAATGCTGGG AGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGTTCAGGGATA ATGCTGGGAGGAACTCCGGCTCAGGGATAACGCTGGGGAGGACTCAGGCT CAGGGATAACGCTGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(487): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CGTATACGTATACACACATATACACGTATACGTATACACACATATACACG TATACGTATACACACATATACACGTATACGTATACGTGTACACACATATA CACGTATATACGTATACGTGTACACACATATACACGTATATACGTATACG TGTACACACATATATATACACGTATATATACGTATACGTGTACACACACA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATATACGTATACGTGTACACACACACGTATATA TACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATACGTATACGTGTACACACACACACGT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0082 a0001c0001t0021g0082	1	112	0.0089	494	c.48- others(511): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACGTATACGTATACACACATATACACGTATACGTATACACACAT ATACACGTATACGTATACACACATATACACGTATACGTATACGTGTACAC ACATATACACGTATATACGTATACGTGTACACACATATACACGTATATAC GTATACGTGTACACACATATATATACACGTATATATACGTATACGTGTAC ACACACACACGTATATATACGTATACGTGTACACACACACGTATATATAC GTATACGTGTACACACACACGTATATATACGTATACGTGTACACACACAC GTATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGT ACACACACACGTATATATACGTATACGTGTACACACACACGTATATATAC GTATACGTGTACACACACACGTATATACGTATACGTGTACACACACACAC GTATATACGTATACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581415	T T	TACACGTA others(487): Show TACACGTATATACGTATACGTGTACACACATATATATACACGTATATATA CGTATACGTGTACACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATATACGTATACGTGTACACACACACGTATATA TACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATACGTATACGTG TACACACACACACGTATATACGTATACGTGTACACACACATACACGTATA TACGTCTACGTGTACACACATATACACGTCTACGTGTACACACATATACA CGTCTACGTGTACACACATATACACGTCTACGTGTACACACATATACACG TCTACGTGTACACACATATACACGTCTACGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0025 a0001c0001t0037g0025	1	63	0.0159	494	c.48- others(511): Show c.48-70582_48-70581insACGTATATACGTATACGTGTACACACAT ATATATACACGTATATATACGTATACGTGTACACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACAC ACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGT GTACACACACACGTATATATACGTATACGTGTACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACAC ACGTATATACGTATACGTGTACACACACACACGTATATACGTATACGTGT ACACACACATACACGTATATACGTCTACGTGTACACACATATACACGTCT ACGTGTACACACATATACACGTCTACGTGTACACACATATACACGTCTAC GTGTACACACATATACACGTCTACGTGTACACACATATACACGTCTACGT GTACACACATATACAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGXT_chr2_240863824_240885500	240872453	A A	AGGAGGAG others(487): Show AGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTT CGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGA GGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATG CAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGT TCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGTAGGCGGAGG AGGGTGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAA CATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGA GAGTTCGTGAACATGTAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAG GAGGAGGAGGGTGAGAGTTCGTGAACATGCAGCAGGAGGGTGAGAGTTCG TGAACATGCAGGCGGAGGAGGGCGAGAGTTCGTGAACATGGAGGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02080.hp1 HG02698.hp1 others(21): Show HG00558.hp1 HG02080.hp1 HG02698.hp1 HG03831.hp2 HG04228.hp1 HG04228.hp2 NA18944.hp2 NA18951.hp1 NA18952.hp2 NA18957.hp2 NA18966.hp2 NA18975.hp2 NA18979.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19056.hp1	a0002 a0012 a0002 a0012	a0002c0003 a0002c0013 a0002c0027 others(1): Show a0002c0003 a0002c0013 a0002c0027 a0012c0015	a0002c0003t0005 a0002c0013t0005 a0002c0027t0005 others(2): Show a0002c0003t0005 a0002c0013t0005 a0002c0027t0005 a0012c0015t0002 a0012c0015t0003	a0002c0003t0005g0006 a0002c0003t0005g0020 a0002c0003t0005g0052 others(6): Show a0002c0003t0005g0006 a0002c0003t0005g0020 a0002c0003t0005g0052 a0002c0003t0005g0120 a0002c0003t0005g0123 a0002c0013t0005g0020 a0002c0027t0005g0006 a0012c0015t0002g0122 a0012c0015t0003g0121	24	313	0.0767	494	c.525 others(509): Show c.525-517_525-516insTGAGAGTTTGTGAACATGGAGGCGGAGGAG GGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGC AGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTT CGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGA GGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATG TAGGCGGAGGAGGGTGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAG AGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGG AGGAGGGTGAGAGTTCGTGAACATGTAGGCGGAGGAGGGTGAGAGTTCGT GAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGCAGGAGGG TGAGAGTTCGTGAACATGCAGGCGGAGGAGGGCGAGAGTTCGTGAACATG GAGGCGGAGGAGGG	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr2	TogoVar

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