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
GTF2IRD1_chr7_74448906_74607605	74558347	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0011 a0002c0003t0001g0011	1	113	0.0088	19	c.210 others(36): Show c.2108-502_2108-484dupTTTTTTTTTTTTTTTTTTT	GTF2IRD1	ENSG00000006704.11	transcript	ENST00000424337.7	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF3C3_chr2_196758035_196804683	196781342	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03491.hp2 HG03492.hp2 others(1): Show HG02055.hp1 HG03491.hp2 HG03492.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0169 a0001c0001t0002g0018 a0001c0001t0002g0169	4	215	0.0186	19	c.111 others(36): Show c.1115-681_1115-680insTTTTTTTTTTTTTTTTTTT	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTF3C3_chr2_196758035_196804683	196781349	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	249	0.0040	19	c.111 others(36): Show c.1115-688_1115-687insATATATATATATATATATA	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTF3C3_chr2_196758035_196804683	196781355	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02735.hp1 HG00621.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0008g0087 a0001c0001t0001g0001 a0001c0001t0008g0087	2	168	0.0119	19	c.111 others(36): Show c.1115-694_1115-693insATATATATATATATATATA	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTF3C3_chr2_196758035_196804683	196781357	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	50	0.0200	19	c.111 others(36): Show c.1115-696_1115-695insATTTTTTTTTTTTTTTTTT	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTF3C3_chr2_196758035_196804683	196781357	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	50	0.0200	19	c.111 others(36): Show c.1115-696_1115-695insATATTTTTTTTTTTTTTTT	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GTF3C3_chr2_196758035_196804683	196781357	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0164 a0001c0005t0002g0164	1	50	0.0200	19	c.111 others(36): Show c.1115-696_1115-695insATATATATTTTTTTTTTTT	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	8/17			chr2	TogoVar
GUCA1C_chr3_108902792_108958879	108931215	T T	TGACTGCA others(12): Show TGACTGCATTTTTCAATGTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(138): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00609.hp2 HG00642.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA19003.hp2 NA19010.hp2 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19079.hp1 NA19080.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20752.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009 a0010	a0001c0001 a0002c0002 a0002c0004 others(6): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0006c0008 a0007c0007 a0009c0011 a0010c0010	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 others(6): Show a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0003c0003t0001 a0004c0005t0001 a0006c0008t0001 a0007c0007t0001 a0009c0011t0001 a0010c0010t0001	a0001c0001t0001g0295 a0001c0001t0001g0302 a0001c0001t0001g0303 others(135): Show a0001c0001t0001g0295 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0067 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0215 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0251 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0275 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0004t0001g0357 a0002c0004t0001g0358 a0002c0004t0001g0359 a0002c0004t0001g0360 a0002c0004t0001g0361 a0002c0004t0001g0362 a0002c0004t0001g0363 a0002c0004t0001g0364 a0002c0004t0001g0365 a0003c0003t0001g0006 a0003c0003t0001g0124 a0003c0003t0001g0125 a0003c0003t0001g0126 a0003c0003t0001g0207 a0003c0003t0001g0208 a0003c0003t0001g0209 a0003c0003t0001g0213 a0003c0003t0001g0235 a0003c0003t0001g0236 a0003c0003t0001g0252 a0003c0003t0001g0265 a0003c0003t0001g0266 a0003c0003t0001g0267 a0003c0003t0001g0268 a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0001g0352 a0003c0003t0001g0353 a0003c0003t0001g0354 a0003c0003t0001g0355 a0004c0005t0001g0214 a0004c0005t0001g0216 a0004c0005t0001g0217 a0004c0005t0001g0276 a0006c0008t0001g0223 a0006c0008t0001g0226 a0007c0007t0001g0019 a0007c0007t0001g0065 a0009c0011t0001g0250 a0010c0010t0001g0210	141	372	0.3790	19	c.205 others(38): Show c.205-10649_205-10631dupGACATTGAAAAATGCAGTC	GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	1/3			chr3	TogoVar
GUCA1C_chr3_108902792_108958879	108939324	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp1 HG01928.hp1 others(4): Show HG00642.hp1 HG01070.hp1 HG01928.hp1 HG01952.hp2 HG01981.hp1 HG02293.hp2 NA19086.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0241 a0002c0002t0001g0251 a0002c0002t0001g0310 others(3): Show a0002c0002t0001g0241 a0002c0002t0001g0251 a0002c0002t0001g0310 a0003c0003t0001g0006 a0003c0003t0001g0252 a0003c0003t0001g0265	7	97	0.0722	19	c.204 others(38): Show c.204+14216_204+14234dupAAAAAAAAAAAAAAAAAAA	GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	1/3			chr3	TogoVar
GUCA1C_chr3_108902792_108958879	108955590	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 NA18954.hp2 NA18989.hp1 HG01943.hp2 NA18954.hp2 NA18989.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0231 a0002c0002t0001g0234 a0002c0002t0001g0313 a0002c0002t0001g0231 a0002c0002t0001g0234 a0002c0002t0001g0313	3	66	0.0455	19	c.-18 others(30): Show c.-1829_-1828insTTTTTTTTTTTTTTTTTTT	GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding		1712		chr3	TogoVar
GUCA2A_chr1_42157690_42169745	42159195	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG02698.hp1 others(9): Show HG00140.hp1 HG00738.hp2 HG02698.hp1 HG03491.hp2 NA18941.hp1 NA18954.hp1 NA18987.hp1 NA18992.hp1 NA18993.hp2 NA19055.hp2 NA19079.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	12	33	0.3636	19	c.37 others(30): Show c.3710_*3711insTTTCTTTTTTTTTTTTTTT	GUCA2A	ENSG00000197273.4	transcript	ENST00000357001.3	protein_coding		3494		chr1	TogoVar
GUCA2A_chr1_42157690_42169745	42159195	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAGAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG02698.hp2 NA18939.hp2 others(7): Show HG01978.hp1 HG02698.hp2 NA18939.hp2 NA18947.hp1 NA18954.hp2 NA18989.hp1 NA19012.hp1 NA19055.hp1 NA19070.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0002 a0001c0001t0001g0025	10	31	0.3226	19	c.37 others(30): Show c.3710_*3711insTTTTCTTTTTTTTTTTTTT	GUCA2A	ENSG00000197273.4	transcript	ENST00000357001.3	protein_coding		3494		chr1	TogoVar
GUCA2A_chr1_42157690_42169745	42159195	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAGAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0020 a0007c0006t0001g0020	1	22	0.0455	19	c.37 others(30): Show c.3710_*3711insTTTTTCTTTTTTTTTTTTT	GUCA2A	ENSG00000197273.4	transcript	ENST00000357001.3	protein_coding		3494		chr1	TogoVar
GUCA2B_chr1_42148410_42160820	42159195	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG02698.hp2 others(9): Show HG00140.hp1 HG00738.hp2 HG02698.hp2 HG03041.hp1 NA18941.hp2 NA18954.hp1 NA18987.hp1 NA18992.hp2 NA19055.hp1 NA19072.hp1 NA19079.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	12	33	0.3636	19	c.35 others(30): Show c.3599_*3600insAAAAAAAAAAAAAAAGAAA	GUCA2B	ENSG00000044012.4	transcript	ENST00000372581.2	protein_coding		3376		chr1	TogoVar
GUCA2B_chr1_42148410_42160820	42159195	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAGAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01978.hp1 HG02698.hp1 others(5): Show HG01081.hp2 HG01978.hp1 HG02698.hp1 NA18947.hp2 NA18989.hp2 NA19012.hp1 NA19055.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0005 a0001c0001t0001g0001 a0001c0002t0001g0005	8	29	0.2759	19	c.35 others(30): Show c.3599_*3600insAAAAAAAAAAAAAAGAAAA	GUCA2B	ENSG00000044012.4	transcript	ENST00000372581.2	protein_coding		3376		chr1	TogoVar
GUCA2B_chr1_42148410_42160820	42159195	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAGAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	22	0.0455	19	c.35 others(30): Show c.3599_*3600insAAAAAAAAAAAAAGAAAAA	GUCA2B	ENSG00000044012.4	transcript	ENST00000372581.2	protein_coding		3376		chr1	TogoVar
GUCY1A2_chr11_106669019_107023476	106698119	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0095 a0001c0001t0072g0095	1	99	0.0101	19	c.199 others(40): Show c.1991+10374_1992-10364dupAAAAAAAAAAAAAAAAAAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	7/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106710005	T T	TTATATAC others(12): Show TTATATACATGTATATAACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00738.hp1 others(43): Show HG00140.hp1 HG00642.hp1 HG00738.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01361.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01952.hp2 HG02027.hp2 HG02145.hp1 HG02258.hp1 HG02273.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03239.hp2 HG03486.hp1 HG03927.hp2 HG04184.hp1 HG06807.hp1 NA18906.hp2 NA18975.hp1 NA19030.hp2 NA19058.hp1 NA19058.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0012	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(25): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0001t0019 a0001c0001t0037 a0001c0001t0038 a0001c0001t0041 a0001c0001t0045 a0001c0001t0046 a0001c0001t0062 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0012 a0001c0002t0032 a0001c0002t0039 a0001c0002t0067 a0001c0003t0004 a0001c0003t0016 a0001c0003t0018 a0001c0003t0034 a0001c0004t0001 a0001c0004t0002 a0001c0005t0003 a0001c0005t0004 a0001c0012t0003	a0001c0001t0003g0084 a0001c0001t0003g0091 a0001c0001t0004g0009 others(43): Show a0001c0001t0003g0084 a0001c0001t0003g0091 a0001c0001t0004g0009 a0001c0001t0004g0042 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0125 a0001c0001t0004g0143 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0006g0043 a0001c0001t0006g0175 a0001c0001t0007g0164 a0001c0001t0016g0172 a0001c0001t0019g0050 a0001c0001t0019g0090 a0001c0001t0037g0079 a0001c0001t0038g0097 a0001c0001t0041g0067 a0001c0001t0045g0111 a0001c0001t0046g0030 a0001c0001t0062g0005 a0001c0002t0003g0228 a0001c0002t0004g0182 a0001c0002t0004g0183 a0001c0002t0004g0184 a0001c0002t0006g0206 a0001c0002t0012g0181 a0001c0002t0032g0180 a0001c0002t0039g0215 a0001c0002t0067g0176 a0001c0003t0004g0235 a0001c0003t0004g0236 a0001c0003t0004g0249 a0001c0003t0016g0238 a0001c0003t0016g0246 a0001c0003t0018g0253 a0001c0003t0018g0254 a0001c0003t0034g0244 a0001c0004t0001g0219 a0001c0004t0002g0221 a0001c0005t0003g0051 a0001c0005t0003g0052 a0001c0005t0003g0053 a0001c0005t0004g0048 a0001c0012t0003g0207	46	203	0.2266	19	c.183 others(38): Show c.1837-1340_1837-1339insTGTTATATACATGTATATA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106944215	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02273.hp1 HG02809.hp1 others(8): Show HG01169.hp2 HG02273.hp1 HG02809.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03704.hp2 HG04199.hp1 NA18946.hp1 NA18953.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0022 a0001c0001t0041 others(6): Show a0001c0001t0001 a0001c0001t0022 a0001c0001t0041 a0001c0002t0004 a0001c0003t0009 a0001c0003t0016 a0001c0004t0001 a0001c0004t0023 a0001c0006t0005	a0001c0001t0001g0063 a0001c0001t0022g0028 a0001c0001t0022g0113 others(8): Show a0001c0001t0001g0063 a0001c0001t0022g0028 a0001c0001t0022g0113 a0001c0001t0041g0067 a0001c0002t0004g0182 a0001c0002t0004g0184 a0001c0003t0009g0237 a0001c0003t0016g0238 a0001c0004t0001g0212 a0001c0004t0023g0225 a0001c0006t0005g0213	11	70	0.1571	19	c.488 others(36): Show c.488-4056_488-4038dupTTTTTTTTTTTTTTTTTTT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	3/7			chr11	TogoVar
GYG1_chr3_148986540_149036775	149022498	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01169.hp2 NA18951.hp1 HG01074.hp2 HG01169.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0213 a0001c0001t0002g0272 a0001c0001t0007g0225 a0001c0001t0002g0213 a0001c0001t0002g0272 a0001c0001t0007g0225	3	101	0.0297	19	c.609 others(36): Show c.609-1537_609-1536insTTTTTTTTTTTTTTTTTTT	GYG1	ENSG00000163754.18	transcript	ENST00000345003.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
GZMK_chr5_55019256_55039570	55022347	A A	ACACACAC others(12): Show ACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 NA19005.hp2 HG03540.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0001 a0001c0001t0009g0098 a0001c0001t0001g0001 a0001c0001t0009g0098	2	453	0.0044	19	c.-19 others(30): Show c.-1976_-1975insCACACACACACACACACAC	GZMK	ENSG00000113088.6	transcript	ENST00000231009.3	protein_coding		1908		chr5	TogoVar
H2AB2_chrX_155375709_155386299	155384120	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG00738.hp1 others(16): Show HG00639.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01167.hp1 HG01257.hp1 HG01346.hp1 HG01928.hp1 HG02004.hp1 HG02080.hp1 HG02135.hp1 HG02300.hp1 HG03490.hp1 HG03927.hp1 NA18942.hp1 NA19000.hp1 NA19004.hp1 NA19076.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0001c0001t0001g0000 a0002c0002t0001g0000	19	38	0.5000	19	c.29 others(30): Show c.2986_*2987insTTTTTTTTTTTTTTTTTTT	H2AB2	ENSG00000277858.2	transcript	ENST00000354514.6	protein_coding		2822		chrX	TogoVar
H2AC19_chr1_149846061_149856594	149851705	A A	ACGGGACG others(12): Show ACGGGACGGGCGGGGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	151	0.0066	19	c.19 others(28): Show c.199_*200insCGGGACGGGCGGGGCGGGG	H2AC19	ENSG00000288859.1	transcript	ENST00000607355.3	protein_coding		112		chr1	TogoVar
H2AC4_chr6_26028092_26038618	26031178	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02735.hp1 HG04199.hp1 others(1): Show HG02080.hp2 HG02735.hp1 HG04199.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	4	367	0.0109	19	c.19 others(30): Show c.1997_*1998insATATATATATATATATATA	H2AC4	ENSG00000278463.2	transcript	ENST00000615868.2	protein_coding		1913		chr6	TogoVar
H2AC6_chr6_26119172_26129690	26121961	G G	GGATTGGT others(12): Show GGATTGGTAGTTGTTGTTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	394	0.0025	19	c.-22 others(30): Show c.-2272_-2271insGATTGGTAGTTGTTGTTGC	H2AC6	ENSG00000180573.10	transcript	ENST00000377791.4	protein_coding		2210		chr6	TogoVar
H2AZ2_chr7_44826978_44853087	44839119	A A	ACAGACTG others(12): Show ACAGACTGAGTCTTTTACTT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	404	0.0025	19	c.195 others(36): Show c.195+1761_195+1779dupAAGTAAAAGACTCAGTCTG	H2AZ2	ENSG00000105968.19	transcript	ENST00000308153.9	protein_coding	3/4			chr7	TogoVar
H2BC4_chr6_26118467_26128926	26121961	G G	GGATTGGT others(12): Show GGATTGGTAGTTGTTGTTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	400	0.0025	19	c.15 others(30): Show c.1562_*1563insGCAACAACAACTACCAATC	H2BC4	ENSG00000180596.9	transcript	ENST00000396984.2	protein_coding		1505		chr6	TogoVar
H3-3B_chr17_75771434_75784779	75782239	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG02135.hp1 HG02165.hp1 others(7): Show HG01074.hp2 HG02135.hp1 HG02165.hp1 HG03490.hp1 HG03579.hp2 NA18949.hp2 NA18968.hp2 NA18974.hp2 NA19060.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0017 a0001c0001t0002 a0001c0001t0010 a0001c0001t0017	a0001c0001t0002g0002 a0001c0001t0010g0011 a0001c0001t0017g0022 a0001c0001t0002g0002 a0001c0001t0010g0011 a0001c0001t0017g0022	10	158	0.0633	19	c.-26 others(30): Show c.-2612_-2594dupAAAAAAAAAAAAAAAAAAA	H3-3B	ENSG00000132475.10	transcript	ENST00000254810.8	protein_coding		2461		chr17	TogoVar
H3C15_chr1_149847608_149858125	149851705	A A	ACGGGACG others(12): Show ACGGGACGGGCGGGGCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00597.hp1 HG00323.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	159	0.0126	19	c.-95 others(28): Show c.-950_-949insCGGGACGGGCGGGGCGGGG	H3C15	ENSG00000203852.4	transcript	ENST00000403683.2	protein_coding		902		chr1	TogoVar
H3C2_chr6_26026589_26037099	26031178	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02735.hp2 HG04199.hp1 others(1): Show HG02080.hp2 HG02735.hp2 HG04199.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	358	0.0112	19	c.47 others(28): Show c.471_*472insATATATATATATATATATA	H3C2	ENSG00000286522.2	transcript	ENST00000621411.3	protein_coding		410		chr6	TogoVar
H4C12_chr6_27826174_27836560	27832868	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG03139.hp2 HG01243.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	265	0.0075	19	c.-13 others(30): Show c.-1342_-1341insAAAAAAAAAAAAAAAAAAA	H4C12	ENSG00000273542.2	transcript	ENST00000611927.2	protein_coding		1309		chr6	TogoVar
H4C14_chr1_149827657_149838052	149827834	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	231	0.0043	19	c.-48 others(30): Show c.-4851_-4850insTTCTTTCTTTCTTTCTTTC	H4C14	ENSG00000270882.3	transcript	ENST00000578186.3	protein_coding		4822		chr1	TogoVar
H4C2_chr6_26021896_26032283	26031178	A A	ATATATAT others(12): Show ATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02735.hp1 HG04199.hp1 others(1): Show HG02080.hp2 HG02735.hp1 HG04199.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	360	0.0111	19	c.-39 others(30): Show c.-3927_-3926insATATATATATATATATATA	H4C2	ENSG00000278705.3	transcript	ENST00000377745.5	protein_coding		3896		chr6	TogoVar
HACD1_chr10_17584032_17622374	17591976	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0290 a0003c0003t0003g0290	1	133	0.0075	19	c.785 others(36): Show c.785-1549_785-1531dupAAAAAAAAAAAAAAAAAAA	HACD1	ENSG00000165996.14	transcript	ENST00000361271.8	protein_coding	6/6			chr10	TogoVar
HACD2_chr3_123486554_123590053	123542146	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02615.hp1 HG01358.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0113 a0001c0001t0005g0173 a0001c0001t0005g0113 a0001c0001t0005g0173	2	48	0.0417	19	c.293 others(38): Show c.293-13691_293-13673dupTTTTTTTTTTTTTTTTTTT	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	3/6			chr3	TogoVar
HACE1_chr6_104723094_104864919	104799909	G G	GCCAAAGT others(12): Show GCCAAAGTAGGGCGGGGCAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(226): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18981.hp1 NA18984.hp2 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0008 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0005 a0001c0001t0001g0117 a0001c0001t0001g0118 others(221): Show a0001c0001t0001g0005 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0268 a0001c0001t0001g0275 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0003g0136 a0001c0001t0004g0036 a0001c0001t0005g0073 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0008g0340 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0004t0001g0139 a0001c0004t0001g0143	229	344	0.6657	19	c.618 others(36): Show c.618-2885_618-2884insATGCCCCGCCCTACTTTGG	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding	7/23			chr6	TogoVar
HACE1_chr6_104723094_104864919	104831980	G G	GAAGAGAA others(12): Show GAAGAGAAGAGAAGAGAGGA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	89	0.0112	19	c.534 others(36): Show c.534+1061_534+1062insTCCTCTCTTCTCTTCTCTT	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding	6/23			chr6	TogoVar
HADHB_chr2_26239939_26295465	26285739	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG01074.hp2 others(29): Show HG00099.hp2 HG00642.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG02145.hp2 HG02257.hp1 HG02300.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02922.hp1 HG02965.hp1 HG03195.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03704.hp1 NA18950.hp1 NA19055.hp1 NA19068.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0003 a0001c0001t0001 a0001c0004t0003	a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0085 others(29): Show a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0246 a0001c0004t0003g0164 a0001c0004t0003g0185 a0001c0004t0003g0191 a0001c0004t0003g0216	32	128	0.2500	19	c.138 others(36): Show c.1389+186_1389+187insTTTTTTTTTTTTTTTTTTT	HADHB	ENSG00000138029.14	transcript	ENST00000317799.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAGH_chr16_1802629_1831825	1826522	C C	CCCGCGGC others(12): Show CCCGCGGCCCCGCGCCCGCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02572.hp1 others(13): Show HG01891.hp1 HG02055.hp2 HG02572.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp2 NA19030.hp1 NA19240.hp1 NA21309.hp1	a0001 a0007 a0001 a0007	a0001c0003 a0007c0019 a0001c0003 a0007c0019	a0001c0003t0002 a0001c0003t0003 a0007c0019t0003 a0001c0003t0002 a0001c0003t0003 a0007c0019t0003	a0001c0003t0002g0126 a0001c0003t0003g0014 a0001c0003t0003g0035 others(9): Show a0001c0003t0002g0126 a0001c0003t0003g0014 a0001c0003t0003g0035 a0001c0003t0003g0036 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0130 a0007c0019t0003g0287	16	434	0.0369	19	c.76+ others(32): Show c.76+171_76+189dupAGCGGGCGCGGGGCCGCGG	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding	1/8			chr16	TogoVar
HAGH_chr16_1802629_1831825	1830944	A A	ACACACAC others(12): Show ACACACACACCCCACCCACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02055.hp2 HG02135.hp1 others(13): Show HG02040.hp1 HG02055.hp2 HG02135.hp1 HG02145.hp2 HG02523.hp1 HG02572.hp1 HG02698.hp1 HG02818.hp1 HG03041.hp2 HG03209.hp1 HG03239.hp1 HG03516.hp2 HG03942.hp2 HG04184.hp2 NA19030.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0017	a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 others(5): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0003t0002 a0001c0003t0003 a0001c0004t0007 a0001c0017t0007	a0001c0001t0003g0101 a0001c0001t0003g0136 a0001c0001t0013g0031 others(11): Show a0001c0001t0003g0101 a0001c0001t0003g0136 a0001c0001t0013g0031 a0001c0001t0014g0033 a0001c0001t0017g0038 a0001c0003t0002g0126 a0001c0003t0003g0036 a0001c0003t0003g0125 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0004t0007g0137 a0001c0004t0007g0138 a0001c0004t0007g0141 a0001c0017t0007g0139	16	177	0.0904	19	c.-41 others(30): Show c.-4158_-4157insGGTGGGTGGGGTGTGTGTG	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding		4120		chr16	TogoVar
HAGH_chr16_1802629_1831825	1830945	C C	CACACACA others(12): Show CACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0149 a0001c0004t0022g0149	1	432	0.0023	19	c.-41 others(30): Show c.-4159_-4158insTGTGTGTGTGTGTGTGTGT	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding		4121		chr16	TogoVar
HAL_chr12_95967662_96001344	95971936	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG02572.hp1 HG03139.hp2 HG00741.hp2 HG02572.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0001t0001 a0001c0001t0009 a0001c0001t0011	a0001c0001t0001g0124 a0001c0001t0009g0244 a0001c0001t0011g0046 a0001c0001t0001g0124 a0001c0001t0009g0244 a0001c0001t0011g0046	3	161	0.0186	19	c.22 others(30): Show c.2295_*2296insAAAAAAAAAAAAAAAAAAA	HAL	ENSG00000084110.11	transcript	ENST00000261208.8	protein_coding		725		chr12	TogoVar
HAP1_chr17_41717640_41739643	41737065	G G	GAGGAAGG others(12): Show GAGGAAGGAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0001 a0013c0014t0001	a0013c0014t0001g0090 a0013c0014t0001g0090	1	47	0.0213	19	c.-24 others(30): Show c.-2432_-2431insTCCTTCCTTCCTCCTTCCT	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding		2423		chr17	TogoVar
HAP1_chr17_41717640_41739643	41737081	A A	AAGGAAGG others(12): Show AAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	372	0.0027	19	c.-24 others(30): Show c.-2448_-2447insCCTTCCTTCCTTCCTTCCT	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding		2439		chr17	TogoVar
HAPLN2_chr1_156614415_156630725	156623033	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01256.hp1 HG01256.hp2 others(6): Show HG01099.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG02027.hp2 NA18960.hp1 NA19012.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(3): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0091 a0001c0001t0001g0111 a0001c0001t0001g0118	9	261	0.0345	19	c.-24 others(34): Show c.-24-427_-24-426insAAAAAAAAAAAAAAAAAAA	HAPLN2	ENSG00000132702.13	transcript	ENST00000255039.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HAPSTR1_chr16_9086644_9126635	9088603	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01192.hp2 HG01517.hp2 others(3): Show HG00280.hp2 HG01192.hp2 HG01517.hp2 HG02698.hp2 HG03704.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 others(1): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0001t0081	a0001c0001t0005g0002 a0001c0001t0005g0203 a0001c0001t0010g0002 others(2): Show a0001c0001t0005g0002 a0001c0001t0005g0203 a0001c0001t0010g0002 a0001c0001t0014g0002 a0001c0001t0081g0002	6	306	0.0196	19	c.-34 others(30): Show c.-3442_-3441insAAAAAAAAAAAAAAAAAAA	HAPSTR1	ENSG00000182831.12	transcript	ENST00000327827.12	protein_coding		3040		chr16	TogoVar
HAS1_chr19_51708112_51728991	51720805	C C	CTTAAATC others(12): Show CTTAAATCCGTGAGGATGAT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	462	0.0022	19	c.10- others(32): Show c.10-929_10-911dupATCATCCTCACGGATTTAA	HAS1	ENSG00000105509.11	transcript	ENST00000540069.7	protein_coding	1/4			chr19	TogoVar
HAT1_chr2_171917461_171988686	171953626	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	5	0.2000	19	c.309 others(34): Show c.309+636_309+654dupAAAAAAAAAAAAAAAAAAA	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171970496	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA20129.hp2 HG03486.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0247 a0002c0002t0001g0249 a0002c0002t0001g0247 a0002c0002t0001g0249	2	8	0.2500	19	c.823 others(36): Show c.823+3570_823+3588dupTTTTTTTTTTTTTTTTTTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171977557	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02523.hp2 NA18941.hp2 HG00323.hp1 HG02523.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0172 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0172	3	153	0.0196	19	c.975 others(36): Show c.975+1250_975+1251insATATATATATATATTTTTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar

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