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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
COL9A3_chr20_62812050_62846159	62832770	A A	AGGTTCTG others(32): Show AGGTTCTGCTTGGCAGAAAAGCCTCATTATGCAAACAAAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp2 others(118): Show HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG01109.hp2 HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG03239.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp2 NA18956.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18967.hp2 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19056.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20805.hp1	a0001 a0009 a0010 others(3): Show a0001 a0009 a0010 a0016 a0017 a0021	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0010 a0001c0045 a0001c0054 a0001c0055 a0001c0057 a0009c0047 a0010c0022 a0016c0053 a0017c0058 a0021c0050	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(20): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0008 a0001c0003t0001 a0001c0003t0007 a0001c0003t0010 a0001c0004t0002 a0001c0004t0004 a0001c0005t0001 a0001c0008t0002 a0001c0010t0002 a0001c0010t0003 a0001c0045t0002 a0001c0054t0001 a0001c0055t0001 a0001c0057t0001 a0009c0047t0001 a0010c0022t0002 a0016c0053t0001 a0017c0058t0001 a0021c0050t0002	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0021 others(102): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0077 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0133 a0001c0001t0001g0153 a0001c0001t0001g0317 a0001c0001t0005g0341 a0001c0001t0006g0076 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0058 a0001c0002t0001g0154 a0001c0002t0001g0166 a0001c0002t0001g0169 a0001c0002t0001g0337 a0001c0002t0008g0002 a0001c0003t0001g0012 a0001c0003t0001g0032 a0001c0003t0001g0033 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0266 a0001c0003t0001g0267 a0001c0003t0001g0268 a0001c0003t0001g0270 a0001c0003t0001g0271 a0001c0003t0001g0272 a0001c0003t0001g0273 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0277 a0001c0003t0001g0278 a0001c0003t0001g0279 a0001c0003t0001g0280 a0001c0003t0001g0283 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0286 a0001c0003t0001g0291 a0001c0003t0001g0292 a0001c0003t0001g0294 a0001c0003t0001g0297 a0001c0003t0001g0301 a0001c0003t0001g0302 a0001c0003t0001g0303 a0001c0003t0001g0304 a0001c0003t0001g0305 a0001c0003t0001g0308 a0001c0003t0001g0309 a0001c0003t0001g0310 a0001c0003t0001g0311 a0001c0003t0001g0312 a0001c0003t0001g0314 a0001c0003t0001g0315 a0001c0003t0001g0316 a0001c0003t0001g0320 a0001c0003t0001g0321 a0001c0003t0001g0325 a0001c0003t0001g0338 a0001c0003t0007g0342 a0001c0003t0010g0032 a0001c0004t0002g0134 a0001c0004t0002g0306 a0001c0004t0004g0161 a0001c0004t0004g0263 a0001c0005t0001g0011 a0001c0005t0001g0034 a0001c0005t0001g0274 a0001c0005t0001g0281 a0001c0005t0001g0282 a0001c0005t0001g0295 a0001c0005t0001g0298 a0001c0005t0001g0307 a0001c0005t0001g0313 a0001c0005t0001g0318 a0001c0005t0001g0319 a0001c0008t0002g0053 a0001c0010t0002g0293 a0001c0010t0002g0296 a0001c0010t0002g0326 a0001c0010t0003g0322 a0001c0045t0002g0155 a0001c0054t0001g0299 a0001c0055t0001g0290 a0001c0057t0001g0300 a0009c0047t0001g0136 a0010c0022t0002g0289 a0016c0053t0001g0269 a0017c0058t0001g0327 a0021c0050t0002g0137	121	359	0.3370	39	c.132 others(56): Show c.1324-248_1324-210dupGTTCTGCTTGGCAGAAAAGCCTCATTAT GCAAACAAATG		COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	25/31					INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62832770	A A	AGGTTCTG others(32): Show AGGTTCTGCTTGGCAGAAAAGCCTCGTTATGCAAACAAAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01071.hp2 others(8): Show HG00738.hp1 HG01069.hp1 HG01071.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02818.hp2 HG02970.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1	a0001 a0006 a0013 a0001 a0006 a0013	a0001c0001 a0001c0004 a0006c0019 others(2): Show a0001c0001 a0001c0004 a0006c0019 a0006c0020 a0013c0051	a0001c0001t0001 a0001c0001t0006 a0001c0004t0003 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0004t0003 a0001c0004t0004 a0006c0019t0002 a0006c0019t0004 a0006c0020t0001 a0006c0020t0007 a0013c0051t0001	a0001c0001t0001g0228 a0001c0001t0006g0246 a0001c0004t0003g0244 others(7): Show a0001c0001t0001g0228 a0001c0001t0006g0246 a0001c0004t0003g0244 a0001c0004t0004g0245 a0006c0019t0002g0016 a0006c0019t0004g0106 a0006c0020t0001g0159 a0006c0020t0001g0160 a0006c0020t0007g0075 a0013c0051t0001g0089	11	249	0.0442	39	c.132 others(56): Show c.1324-226_1324-225insGTTATGCAAACAAATGGTTCTGCTTGGC AGAAAAGCCTC		COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	25/31					INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62832771	G G	AGTTCTGC others(32): Show AGTTCTGCTTGGCAGAAAAGCCTCATTATGCAAACAAATG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01168.hp2 HG03225.hp1 others(1): Show HG00423.hp2 HG01168.hp2 HG03225.hp1 NA19066.hp1	a0001 a0025 a0001 a0025	a0001c0001 a0001c0002 a0025c0037 a0001c0001 a0001c0002 a0025c0037	a0001c0001t0001 a0001c0002t0001 a0025c0037t0001 a0001c0001t0001 a0001c0002t0001 a0025c0037t0001	a0001c0001t0001g0072 a0001c0001t0001g0123 a0001c0002t0001g0108 others(1): Show a0001c0001t0001g0072 a0001c0001t0001g0123 a0001c0002t0001g0108 a0025c0037t0001g0124	4	410	0.0098	39	c.132 others(56): Show c.1324-250_1324-249insAGTTCTGCTTGGCAGAAAAGCCTCATTA TGCAAACAAAT		COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	25/31						chr20	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAAGAAA others(32): Show GAAAGAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02922.hp2 HG01081.hp2 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0129 a0002c0003t0001g0130 a0002c0003t0001g0129 a0002c0003t0001g0130	2	147	0.0136	39	c.735 others(54): Show c.735+442_735+443insTTCTTTTCTTTTCTTTTCTTTCTTTCTTTC TTTTTCTTT		COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9						chr19	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAAGAAA others(32): Show GAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02622.hp1 HG02809.hp1 HG02257.hp1 HG02622.hp1 HG02809.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0121 a0002c0003t0001g0146 a0002c0003t0001g0204 a0002c0003t0001g0121 a0002c0003t0001g0146 a0002c0003t0001g0204	3	148	0.0203	39	c.735 others(54): Show c.735+442_735+443insTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TCTTTCTTT		COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9						chr19	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAGGAAG others(32): Show GAAGGAAGGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0114 a0004c0006t0001g0114	1	146	0.0068	39	c.735 others(54): Show c.735+442_735+443insTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TCCTTCCTT		COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9						chr19	TogoVar
COQ5_chr12_120498279_120534158	120525965	G G	GCAATAAA others(32): Show GCAATAAAAACATAAATAAATAAATAAGCAAAGCAAAACA	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18970.hp1 HG02074.hp1 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0019	2	386	0.0052	39	c.202 others(56): Show c.202+2974_202+2975insTGTTTTGCTTTGCTTATTTATTTATTTA TGTTTTTATTG		COQ5	ENSG00000110871.15	transcript	ENST00000288532.11	protein_coding	1/6						chr12	TogoVar
CORO1A_chr16_30178602_30194076	30190349	T T	TTATATAT others(32): Show TTATATATTATACTATATAATAATATAGTATAATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	340	0.0029	39	c.13 others(50): Show c.1385_*1386insTATATATTATACTATATAATAATATAGTATAATA TATAA		CORO1A	ENSG00000102879.17	transcript	ENST00000219150.10	protein_coding					1274		chr16	TogoVar
COX7A2L_chr2_42344338_42366217	42364250	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	176	0.0057	39	c.-30 others(50): Show c.-3090_-3089insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		COX7A2L	ENSG00000115944.15	transcript	ENST00000234301.3	protein_coding					3034		chr2	TogoVar
CPEB4_chr5_173883349_173966980	173964587	G G	GTGGGGTG others(32): Show GTGGGGTGGGGTGAGGGTGGGGTGGGGTGAGGGTGAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0026	1	363	0.0028	39	c.84 others(50): Show c.8450_*8451insTGGGGTGGGGTGAGGGTGGGGTGGGGTGAGGGTG AGGGT		CPEB4	ENSG00000113742.14	transcript	ENST00000265085.10	protein_coding					2608		chr5	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03831.hp1 HG02738.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0070 a0001c0001t0001g0058 a0001c0001t0001g0070	2	150	0.0133	39	c.308 others(56): Show c.308-3203_308-3202insAAAAAAAAAAAAAAAAAAAAAAAGAAAG AAAGAAAAAGA		CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
CPNE7_chr16_89570758_89602246	89587744	G G	GCCCCCCG others(32): Show GCCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18952.hp1 NA18959.hp2 NA18942.hp2 NA18952.hp1 NA18959.hp2	a0002 a0010 a0002 a0010	a0002c0003 a0010c0016 a0002c0003 a0010c0016	a0002c0003t0003 a0010c0016t0003 a0002c0003t0003 a0010c0016t0003	a0002c0003t0003g0004 a0010c0016t0003g0114 a0002c0003t0003g0004 a0010c0016t0003g0114	3	218	0.0138	39	c.927 others(54): Show c.927+647_927+648insCGTGTCACCCGCGTGTCACCCACAGAAACA CGGCCCCCC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587744	G G	GCCCCCCG others(32): Show GCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18982.hp2 NA19011.hp2 NA18946.hp1 NA18982.hp2 NA19011.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0003 a0003c0006t0003 a0001c0002t0003 a0003c0006t0003	a0001c0002t0003g0173 a0003c0006t0003g0267 a0003c0006t0003g0268 a0001c0002t0003g0173 a0003c0006t0003g0267 a0003c0006t0003g0268	3	218	0.0138	39	c.927 others(54): Show c.927+647_927+648insCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587781	G G	GCCCCCCG others(32): Show GCCCCCCGTGTCACCCGCGTGTTACCCACAGAAACACGGC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0113 a0002c0003t0003g0113	1	299	0.0033	39	c.927 others(54): Show c.927+684_927+685insCGTGTCACCCGCGTGTTACCCACAGAAACA CGGCCCCCC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587845	G G	GCCCCCCG others(32): Show GCCCCCCGTGTTACCCGCGTGTCACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0128 a0002c0003t0003g0128	1	293	0.0034	39	c.927 others(54): Show c.927+748_927+749insCGTGTTACCCGCGTGTCACCCACAGATACA CGGCCCCCC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588095	C C	CCCGTGTT others(32): Show CCCGTGTTACCCACAGATACACGGCCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0141 a0002c0003t0003g0141	1	232	0.0043	39	c.928 others(54): Show c.928-579_928-578insCGTGTTACCCACAGATACACGGCCCCCCGT GTCACCCGC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588117	G G	GCCCCCCG others(32): Show GCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0289 a0001c0012t0002g0289	1	249	0.0040	39	c.928 others(54): Show c.928-553_928-552insCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588228	G G	GCCCCCCG others(32): Show GCCCCCCGTGTCACCCCCGTGTCACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0284 a0001c0002t0005g0284	1	335	0.0030	39	c.928 others(54): Show c.928-442_928-441insCGTGTCACCCCCGTGTCACCCACAGATACA CGGCCCCCC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89590750	C C	CGGGGGAG others(32): Show CGGGGGAGCAGCTGACTGGGGGACATGGGGGCCGGGGACG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01943.hp1 HG02257.hp1 others(1): Show HG00609.hp1 HG01943.hp1 HG02257.hp1 HG02273.hp2	a0001 a0001	a0001c0002 a0001c0025 a0001c0002 a0001c0025	a0001c0002t0004 a0001c0025t0001 a0001c0002t0004 a0001c0025t0001	a0001c0002t0004g0136 a0001c0002t0004g0137 a0001c0002t0004g0139 others(1): Show a0001c0002t0004g0136 a0001c0002t0004g0137 a0001c0002t0004g0139 a0001c0025t0001g0193	4	294	0.0136	39	c.111 others(56): Show c.1117-202_1117-164dupTGGGGGACATGGGGGCCGGGGACGGGGG GAGCAGCTGAC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	11/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	161	0.0062	39	c.103 others(56): Show c.103+1490_103+1491insATATATATATATATATATATATATATAT GTTTTTTTTTT		CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	161	0.0062	39	c.103 others(56): Show c.103+1490_103+1491insATATATATATATATATATATATATATGT TTTTTTTTTTT		CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
CPT1A_chr11_68749883_68846916	68817063	G G	GGTGTGTG others(32): Show GGTGTGTGTGGGTGCGTGTGTGTGGTTGTGTGTGTGTGGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03453.hp2 HG03471.hp2 others(6): Show HG02717.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03710.hp2 NA18942.hp2 NA18977.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0002c0009 a0001c0001 a0002c0006 a0002c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0015 a0001c0001t0031 a0002c0006t0011 a0002c0009t0032	a0001c0001t0001g0217 a0001c0001t0001g0224 a0001c0001t0003g0222 others(6): Show a0001c0001t0001g0217 a0001c0001t0001g0224 a0001c0001t0003g0222 a0001c0001t0014g0106 a0001c0001t0015g0223 a0001c0001t0031g0101 a0002c0006t0011g0036 a0002c0006t0011g0104 a0002c0009t0032g0216	9	188	0.0479	39	c.-13 others(56): Show c.-13-1615_-13-1577dupACCACACACACACAACCACACACACGCA CCCACACACAC		CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	1/18						chr11	TogoVar
CPZ_chr4_8587765_8624752	8605326	C C	CCATCTAT others(32): Show CCATCTATCCATCCATCCATCCATCCATCCATCATTTATG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03669.hp1 HG03017.hp1 HG03669.hp1	a0005 a0005	a0005c0032 a0005c0032	a0005c0032t0007 a0005c0032t0007	a0005c0032t0007g0271 a0005c0032t0007g0272 a0005c0032t0007g0271 a0005c0032t0007g0272	2	428	0.0047	39	c.710 others(54): Show c.710-659_710-658insTATCCATCCATCCATCCATCCATCCATCAT TTATGCATC		CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
CPZ_chr4_8587765_8624752	8609148	C C	CCATTCAC others(32): Show CCATTCACTCACTCACTTCTCATTAACTCAGCCATTCACT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(273): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0008 a0011 a0014 a0015 a0017 a0018 a0019 a0023 a0025 a0027 a0029	a0001c0001 a0001c0007 a0001c0012 others(31): Show a0001c0001 a0001c0007 a0001c0012 a0001c0013 a0001c0037 a0001c0040 a0001c0042 a0001c0044 a0001c0048 a0001c0051 a0001c0057 a0001c0058 a0002c0004 a0002c0009 a0002c0021 a0002c0022 a0002c0067 a0003c0031 a0003c0059 a0004c0017 a0005c0032 a0005c0033 a0005c0034 a0008c0019 a0011c0028 a0014c0030 a0015c0024 a0017c0035 a0018c0047 a0019c0039 a0023c0036 a0025c0055 a0027c0038 a0029c0064	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0007t0002 a0001c0012t0002 a0001c0013t0002 a0001c0037t0001 a0001c0040t0001 a0001c0042t0002 a0001c0044t0002 a0001c0048t0001 a0001c0051t0001 a0001c0057t0002 a0001c0058t0002 a0002c0004t0001 a0002c0004t0002 a0002c0009t0002 a0002c0021t0001 a0002c0021t0002 a0002c0022t0002 a0002c0067t0001 a0003c0031t0001 a0003c0059t0002 a0004c0017t0002 a0005c0032t0007 a0005c0033t0001 a0005c0034t0002 a0008c0019t0001 a0011c0028t0001 a0014c0030t0001 a0015c0024t0001 a0017c0035t0009 a0018c0047t0002 a0019c0039t0001 a0023c0036t0001 a0025c0055t0001 a0027c0038t0001 a0029c0064t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(180): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0298 a0001c0001t0001g0303 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0066 a0001c0001t0002g0073 a0001c0001t0002g0148 a0001c0001t0002g0152 a0001c0001t0002g0156 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0283 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0008g0069 a0001c0007t0002g0305 a0001c0012t0002g0036 a0001c0012t0002g0130 a0001c0012t0002g0221 a0001c0012t0002g0222 a0001c0013t0002g0021 a0001c0013t0002g0201 a0001c0013t0002g0202 a0001c0037t0001g0019 a0001c0040t0001g0117 a0001c0042t0002g0183 a0001c0044t0002g0204 a0001c0048t0001g0105 a0001c0051t0001g0181 a0001c0057t0002g0071 a0001c0058t0002g0070 a0002c0004t0001g0261 a0002c0004t0001g0262 a0002c0004t0001g0263 a0002c0004t0001g0267 a0002c0004t0001g0269 a0002c0004t0002g0004 a0002c0004t0002g0010 a0002c0004t0002g0023 a0002c0004t0002g0254 a0002c0004t0002g0257 a0002c0004t0002g0259 a0002c0004t0002g0265 a0002c0004t0002g0268 a0002c0009t0002g0062 a0002c0009t0002g0063 a0002c0009t0002g0064 a0002c0009t0002g0255 a0002c0009t0002g0266 a0002c0021t0001g0258 a0002c0021t0002g0010 a0002c0022t0002g0260 a0002c0022t0002g0275 a0002c0022t0002g0276 a0002c0067t0001g0238 a0003c0031t0001g0092 a0003c0031t0001g0093 a0003c0059t0002g0080 a0004c0017t0002g0188 a0004c0017t0002g0217 a0004c0017t0002g0218 a0005c0032t0007g0271 a0005c0032t0007g0272 a0005c0033t0001g0247 a0005c0034t0002g0245 a0008c0019t0001g0005 a0011c0028t0001g0049 a0014c0030t0001g0016 a0015c0024t0001g0051 a0017c0035t0009g0246 a0018c0047t0002g0036 a0019c0039t0001g0235 a0023c0036t0001g0203 a0025c0055t0001g0138 a0027c0038t0001g0161 a0029c0064t0002g0256	276	412	0.6699	39	c.122 others(58): Show c.1227+1725_1227+1726insTTCACTCACTCACTTCTCATTAACTC AGCCATTCACTCA		CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
CPZ_chr4_8587765_8624752	8609178	A A	ACTCACTC others(32): Show ACTCACTCACTTCTCATTAACTCAGCCATTCACTCACTCC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0250 a0005c0005t0002g0250	1	440	0.0023	39	c.122 others(58): Show c.1227+1757_1227+1758insCTCACTTCTCATTAACTCAGCCATTC ACTCACTCCCTCA		CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
CR1_chr1_207491157_207646765	207581379	T T	TACATATG others(32): Show TACATATGTATATATACATATGTATATACATATATATGGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02258.hp2 others(21): Show HG01243.hp1 HG01891.hp1 HG02258.hp2 HG02572.hp1 HG02622.hp2 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 NA18906.hp2 NA19030.hp2 NA19043.hp1	a0006 a0015 a0016 others(1): Show a0006 a0015 a0016 a0017	a0006c0005 a0006c0011 a0015c0041 others(2): Show a0006c0005 a0006c0011 a0015c0041 a0016c0022 a0017c0020	a0006c0005t0001 a0006c0005t0002 a0006c0005t0005 others(6): Show a0006c0005t0001 a0006c0005t0002 a0006c0005t0005 a0006c0005t0019 a0006c0011t0002 a0006c0011t0009 a0015c0041t0002 a0016c0022t0002 a0017c0020t0001	a0006c0005t0001g0016 a0006c0005t0001g0018 a0006c0005t0001g0019 others(21): Show a0006c0005t0001g0016 a0006c0005t0001g0018 a0006c0005t0001g0019 a0006c0005t0001g0020 a0006c0005t0001g0022 a0006c0005t0001g0029 a0006c0005t0001g0074 a0006c0005t0002g0136 a0006c0005t0002g0137 a0006c0005t0002g0138 a0006c0005t0002g0139 a0006c0005t0002g0182 a0006c0005t0005g0033 a0006c0005t0005g0034 a0006c0005t0019g0025 a0006c0011t0002g0035 a0006c0011t0002g0071 a0006c0011t0009g0072 a0006c0011t0009g0073 a0015c0041t0002g0160 a0016c0022t0002g0027 a0016c0022t0002g0028 a0017c0020t0001g0014 a0017c0020t0001g0015	24	358	0.0670	39	c.521 others(56): Show c.5217-503_5217-465dupTGGAACATATGTATATATACATATGTAT ATACATATATA		CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	31/46					INFO_REALIGN_3_PRIME	chr1	TogoVar
CRACDL_chr2_98788846_98941225	98936612	A A	ACCCGGGA others(32): Show ACCCGGGACTCCAGGTGACCTCCGGATCCTCCCTCTAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG01070.hp1 others(32): Show HG00280.hp1 HG00733.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01256.hp1 HG01258.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02148.hp1 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02922.hp1 HG03130.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp1 NA18522.hp2 NA19006.hp2 NA19043.hp2 NA20129.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0026 others(30): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0179 a0002c0002t0001g0061	35	314	0.1115	39	c.-68 others(48): Show c.-686_-685insCTTTAGAGGGAGGATCCGGAGGTCACCTGGAGTCCC GGG		CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding					388		chr2	TogoVar
CRACR2A_chr12_3610328_3758109	3745825	T T	TAAAATAA others(32): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02970.hp1 HG03041.hp2 others(1): Show HG00099.hp1 HG02970.hp1 HG03041.hp2 HG03195.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0004 a0008c0007 a0001c0001 a0004c0004 a0008c0007	a0001c0001t0001 a0004c0004t0002 a0008c0007t0001 a0001c0001t0001 a0004c0004t0002 a0008c0007t0001	a0001c0001t0001g0055 a0001c0001t0001g0102 a0004c0004t0002g0033 others(1): Show a0001c0001t0001g0055 a0001c0001t0001g0102 a0004c0004t0002g0033 a0008c0007t0001g0300	4	9	0.4444	39	c.-38 others(58): Show c.-387+7189_-387+7190insCTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTT		CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	1/19						chr12	TogoVar
CRAMP1_chr16_1607360_1682908	1661321	A A	AGGTCCTG others(32): Show AGGTCCTGGCCTCCTGGGTGACGGAGGGGGCCGGGTGAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(64): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00609.hp2 HG00642.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01192.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01891.hp1 HG01928.hp1 HG02015.hp2 HG02055.hp1 HG02129.hp1 HG02148.hp2 HG02165.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02647.hp1 HG02683.hp2 HG02896.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG03710.hp2 HG03927.hp2 HG04204.hp1 NA18941.hp1 NA18941.hp2 NA18948.hp1 NA18950.hp1 NA18953.hp2 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18968.hp2 NA18974.hp2 NA18975.hp1 NA18982.hp2 NA18990.hp2 NA19007.hp1 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19074.hp2 NA19079.hp1 NA19083.hp1 NA20129.hp2 NA20752.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0001c0011 a0001c0014 others(4): Show a0001c0001 a0001c0011 a0001c0014 a0001c0016 a0002c0006 a0007c0018 a0008c0017	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(11): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 a0001c0001t0020 a0001c0001t0026 a0001c0001t0030 a0001c0001t0032 a0001c0011t0003 a0001c0014t0003 a0001c0016t0036 a0002c0006t0006 a0007c0018t0022 a0008c0017t0031	a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0017 others(53): Show a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0017 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0083 a0001c0001t0003g0085 a0001c0001t0004g0002 a0001c0001t0004g0014 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0079 a0001c0001t0008g0015 a0001c0001t0008g0082 a0001c0001t0008g0089 a0001c0001t0008g0090 a0001c0001t0008g0269 a0001c0001t0015g0087 a0001c0001t0015g0088 a0001c0001t0020g0016 a0001c0001t0026g0084 a0001c0001t0030g0086 a0001c0001t0032g0047 a0001c0011t0003g0044 a0001c0014t0003g0001 a0001c0016t0036g0053 a0002c0006t0006g0054 a0002c0006t0006g0055 a0002c0006t0006g0056 a0002c0006t0006g0057 a0002c0006t0006g0058 a0007c0018t0022g0061 a0008c0017t0031g0091	67	321	0.2087	39	c.241 others(56): Show c.2414-983_2414-945dupCCGGGTGAGGGGTCCTGGCCTCCTGGGT GACGGAGGGGG		CRAMP1	ENSG00000007545.16	transcript	ENST00000397412.8	protein_coding	11/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CRAMP1_chr16_1607360_1682908	1661459	C C	CGGAGGGG others(32): Show CGGAGGGGGCCGGGTGAGGGGTCCTGGCCTCCTGGGTGAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0039 a0001c0001t0003g0040	2	330	0.0061	39	c.241 others(56): Show c.2414-993_2414-992insTGGAGGGGGCCGGGTGAGGGGTCCTGGC CTCCTGGGTGA		CRAMP1	ENSG00000007545.16	transcript	ENST00000397412.8	protein_coding	11/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CREB3L3_chr19_4148631_4178054	4163328	A A	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	276	0.0036	39	c.577 others(56): Show c.577-1173_577-1172insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAA		CREB3L3	ENSG00000060566.14	transcript	ENST00000078445.7	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
CREB3L3_chr19_4148631_4178054	4163351	A A	AGAAAGAA others(32): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	242	0.0041	39	c.577 others(56): Show c.577-1149_577-1148insAGAAAGAAAGAAAGAAAGAAAGAAGAAA GAAAGAAGGAA		CREB3L3	ENSG00000060566.14	transcript	ENST00000078445.7	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
CREB5_chr7_28407518_28830894	28712524	T T	TTTATTAT others(32): Show TTTATTATTATTATTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0072 a0001c0001t0008g0072	1	102	0.0098	39	c.465 others(56): Show c.465-6206_465-6205insATTATTATTATTATTATTATTATTATTA TTATTATTATT		CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
CREBBP_chr16_3720054_3885713	3759588	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0048 a0001c0004t0048	a0001c0004t0048g0264 a0001c0004t0048g0264	1	212	0.0047	39	c.325 others(56): Show c.3251-617_3251-616insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	16/30						chr16	TogoVar
CREM_chr10_35121846_35217953	35187179	A A	ATATATTT others(32): Show ATATATTTATATATTAATATATATTATATATCATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0036 a0001c0002t0004g0036	1	280	0.0036	39	c.410 others(56): Show c.410-1016_410-1015insTTATATATTAATATATATTATATATCAT ATATATTATAT		CREM	ENSG00000095794.21	transcript	ENST00000685392.1	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
CREM_chr10_35121846_35217953	35187179	A A	ATATATTT others(32): Show ATATATTTATATATTAATATATATTATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02572.hp2 HG02965.hp1 HG01071.hp1 HG02572.hp2 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0020 a0001c0002t0004 a0001c0002t0020	a0001c0002t0004g0115 a0001c0002t0004g0289 a0001c0002t0020g0290 a0001c0002t0004g0115 a0001c0002t0004g0289 a0001c0002t0020g0290	3	282	0.0106	39	c.410 others(56): Show c.410-1016_410-1015insTTATATATTAATATATATTATATATTAT ATATATTATAT		CREM	ENSG00000095794.21	transcript	ENST00000685392.1	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
CREM_chr10_35121846_35217953	35215163	G G	GGGACAGC others(32): Show GGGACAGCCCTAAAAGTCTTCTATCGTGACTCCTGTAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	292	0.0034	39	c.37 others(50): Show c.3765_*3766insGGACAGCCCTAAAAGTCTTCTATCGTGACTCCTG TAATA		CREM	ENSG00000095794.21	transcript	ENST00000685392.1	protein_coding					2211		chr10	TogoVar
CRKL_chr22_20912407_20958747	20927192	A A	ATTTTTTT others(32): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	52	0.0192	39	c.312 others(56): Show c.312-6569_312-6568insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr22	TogoVar
CRLF2_chrX_1185490_1217649	1191361	C C	CTTTCTTT others(32): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03540.hp2 NA18979.hp1 others(5): Show HG02165.hp1 HG03540.hp2 NA18979.hp1 NA19000.hp2 NA19011.hp1 NA19082.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0005 a0001c0001 a0001c0008 a0002c0005	a0001c0001t0001 a0001c0008t0001 a0002c0005t0001 a0001c0001t0001 a0001c0008t0001 a0002c0005t0001	a0001c0001t0001g0030 a0001c0001t0001g0052 a0001c0001t0001g0061 others(5): Show a0001c0001t0001g0030 a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0001g0103 a0001c0008t0001g0148 a0001c0008t0001g0149 a0002c0005t0001g0072 a0002c0005t0001g0132	8	117	0.0684	39	c.853 others(54): Show c.853-202_853-201insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAA		CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	7/7						chrX	TogoVar
CRMP1_chr4_5815764_5898086	5837650	T T	TAATAAAA others(32): Show TAATAAAATAAAATAAAATAAAATAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02896.hp1 HG01891.hp2 HG02145.hp2 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0002c0023 a0001c0003 a0002c0004 a0002c0023	a0001c0003t0003 a0002c0004t0003 a0002c0023t0003 a0001c0003t0003 a0002c0004t0003 a0002c0023t0003	a0001c0003t0003g0067 a0002c0004t0003g0040 a0002c0023t0003g0019 a0001c0003t0003g0067 a0002c0004t0003g0040 a0002c0023t0003g0019	3	211	0.0142	39	c.131 others(56): Show c.1311-745_1311-744insTTATTTTATTTTATTTATTTTATTTTAT TTTATTTTATT		CRMP1	ENSG00000072832.15	transcript	ENST00000324989.12	protein_coding	9/13						chr4	TogoVar
CRPPA_chr7_16082525_16426538	16342782	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0134 a0001c0001t0057g0134	1	10	0.1000	39	c.684 others(58): Show c.684+33309_684+33310insATATATATATATATATATATATATAT TTTTTTTTTTTTT		CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9						chr7	TogoVar
CRYAA_chr21_43164008_43177805	43172219	A A	ACGCCGAG others(32): Show ACGCCGAGCGAGCCATCCCCGTGTCGCGGGAGGAGAAGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG04115.hp1 HG04115.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0022 a0005c0010t0002g0022	1	40	0.0250	39	c.463 others(46): Show c.463_501dupGCCGAGCGAGCCATCCCCGTGTCGCGGGAGGAGAAGCC C	p.Ala others(13): Show p.Ala155_Pro167dup	CRYAA	ENSG00000160202.7	transcript	ENST00000291554.6	protein_coding	3/3	594/1139	502/522	168/173		INFO_REALIGN_3_PRIME	chr21	TogoVar
CRYBG1_chr6_106355717_106577017	106361970	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp2 HG02897.hp1 others(2): Show HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03579.hp2 NA18522.hp1	a0004 a0005 a0011 others(1): Show a0004 a0005 a0011 a0057	a0004c0004 a0005c0006 a0011c0015 others(1): Show a0004c0004 a0005c0006 a0011c0015 a0057c0029	a0004c0004t0002 a0005c0006t0008 a0011c0015t0003 others(1): Show a0004c0004t0002 a0005c0006t0008 a0011c0015t0003 a0057c0029t0001	a0004c0004t0002g0229 a0005c0006t0008g0249 a0011c0015t0003g0240 others(2): Show a0004c0004t0002g0229 a0005c0006t0008g0249 a0011c0015t0003g0240 a0011c0015t0003g0241 a0057c0029t0001g0253	5	228	0.0219	39	c.173 others(54): Show c.173+891_173+892insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTT		CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr6	TogoVar
CSF1R_chr5_150048295_150091554	150084396	A A	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0209 a0001c0002t0016g0209	1	403	0.0025	39	c.49+ others(54): Show c.49+1982_49+1983insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTT		CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20						chr5	TogoVar
CSF2RA_chrX_1263814_1314935	1280853	T T	TCTCCTCC others(32): Show TCTCCTCCTCCTCCTCCTCCTCCTTCTCCTGCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0009 a0007c0014t0009	a0007c0014t0009g0017 a0007c0014t0009g0017	1	47	0.0213	39	c.-26 others(56): Show c.-26-1805_-26-1804insCCTTCTCCTGCTCCTTCTCCTCCTCCTC CTCCTCCTCCT		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12					INFO_REALIGN_3_PRIME	chrX	TogoVar
CSH1_chr17_63889918_63901574	63898107	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0023	39	c.-15 others(50): Show c.-1597_-1596insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAA		CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding					1534		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898203	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	425	0.0024	39	c.-16 others(50): Show c.-1693_-1692insGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAA		CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding					1630		chr17	TogoVar
CSMD1_chr8_2930361_4999914	2974124	G G	GATGATGG others(32): Show GATGATGGTAGAGGATGATGGTAGAGGATGATGGTAGAGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03098.hp2 HG02723.hp1 HG03098.hp2	a0021 a0027 a0021 a0027	a0021c0038 a0027c0110 a0021c0038 a0027c0110	a0021c0038t0075 a0027c0110t0074 a0021c0038t0075 a0027c0110t0074	a0021c0038t0075g0067 a0027c0110t0074g0082 a0021c0038t0075g0067 a0027c0110t0074g0082	2	123	0.0163	39	c.874 others(56): Show c.8740+326_8740+327insTCTCTACCATCATCCTCTACCATCATCC TCTACCATCAT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	56/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3448405	A A	AGGAAGGA others(32): Show AGGAAGGAAGAAAGGGAGGGAGGGAGAGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA20129.hp1 HG03540.hp2 NA20129.hp1	a0031 a0039 a0031 a0039	a0031c0113 a0039c0010 a0031c0113 a0039c0010	a0031c0113t0013 a0039c0010t0068 a0031c0113t0013 a0039c0010t0068	a0031c0113t0013g0043 a0039c0010t0068g0084 a0031c0113t0013g0043 a0039c0010t0068g0084	2	126	0.0159	39	c.156 others(60): Show c.1561+20306_1561+20307insCCCTCCCTCCCTCTCTCCCTCCCT CCCTTTCTTCCTTCC		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69						chr8	TogoVar
CSMD3_chr8_112217928_113441939	113302300	A A	ATATTATA others(32): Show ATATTATATATATTATATATATAATAATATAATATAATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01081.hp1 HG01109.hp2 HG00423.hp2 HG01081.hp1 HG01109.hp2	a0003 a0004 a0003 a0004	a0003c0002 a0004c0004 a0003c0002 a0004c0004	a0003c0002t0001 a0004c0004t0001 a0004c0004t0009 a0003c0002t0001 a0004c0004t0001 a0004c0004t0009	a0003c0002t0001g0050 a0004c0004t0001g0031 a0004c0004t0009g0032 a0003c0002t0001g0050 a0004c0004t0001g0031 a0004c0004t0009g0032	3	4	0.7500	39	c.401 others(58): Show c.401+12270_401+12271insATATTATATTATATTATTATATATAT AATATATATAATA		CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	2/70						chr8	TogoVar

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