Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CRPPA_chr7_16082525_16426538	16342782	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAATATATATATATATATATATAGATATAGATATAT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0197 a0001c0001t0004g0197	1	290	0.0035	48	c.684 others(67): Show c.684+33309_684+33310insATATATCTATATCTATATATATATAT ATATATATTTTTTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9			chr7	TogoVar
CRPPA_chr7_16082525_16426538	16342782	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAATATATATATATATATATATATAGATAGATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp1 HG02145.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0037 a0001c0001t0029 a0001c0001t0037	a0001c0001t0029g0017 a0001c0001t0037g0019 a0001c0001t0029g0017 a0001c0001t0037g0019	2	290	0.0069	48	c.684 others(67): Show c.684+33309_684+33310insATATATCTATCTATATATATATATAT ATATATATTTTTTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9			chr7	TogoVar
CRPPA_chr7_16082525_16426538	16342782	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATAGATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02615.hp2 NA18984.hp2 HG00733.hp2 HG02615.hp2 NA18984.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0002c0002t0031 a0001c0001t0004 a0002c0002t0001 a0002c0002t0031	a0001c0001t0004g0007 a0002c0002t0001g0226 a0002c0002t0031g0236 a0001c0001t0004g0007 a0002c0002t0001g0226 a0002c0002t0031g0236	3	290	0.0103	48	c.684 others(67): Show c.684+33309_684+33310insATATATCTATATATATATATATATAT ATATATATTTTTTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9			chr7	TogoVar
CRTC3_chr15_90524923_90650345	90647496	T T	TTGTCCTC others(41): Show TTGTCCTCCTCCACACCCCTCCTCTGCCTCACCCCTCCTCCTCCACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0133 a0002c0002t0017g0133	1	276	0.0036	48	c.53 others(59): Show c.5356_*5357insTGTCCTCCTCCACACCCCTCCTCTGCCTCACCCC TCCTCCTCCACACC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2152		chr15	TogoVar
CRYBG1_chr6_106355717_106577017	106361953	T T	TTTTCTTT others(41): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01071.hp2 HG01099.hp1 others(18): Show HG00280.hp2 HG01071.hp2 HG01099.hp1 HG01169.hp2 HG01175.hp1 HG01943.hp1 HG02129.hp1 HG02273.hp1 HG03225.hp2 HG03239.hp1 HG04115.hp1 NA18612.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp2 NA18969.hp1 NA18979.hp1 NA19012.hp2 NA19066.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0008 a0020 a0022	a0001c0001 a0001c0022 a0002c0003 others(7): Show a0001c0001 a0001c0022 a0002c0003 a0002c0011 a0003c0002 a0004c0004 a0006c0005 a0008c0010 a0020c0021 a0022c0040	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0022t0002 a0002c0003t0001 a0002c0003t0006 a0002c0003t0007 a0002c0011t0003 a0003c0002t0005 a0004c0004t0002 a0006c0005t0001 a0006c0005t0004 a0008c0010t0006 a0020c0021t0004 a0022c0040t0001	a0001c0001t0001g0001 a0001c0001t0001g0121 a0001c0001t0001g0127 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0004g0125 a0001c0001t0005g0129 a0001c0001t0005g0130 a0001c0022t0002g0126 a0002c0003t0001g0122 a0002c0003t0001g0123 a0002c0003t0006g0128 a0002c0003t0007g0116 a0002c0011t0003g0002 a0002c0011t0003g0133 a0003c0002t0005g0132 a0004c0004t0002g0118 a0006c0005t0001g0120 a0006c0005t0004g0119 a0008c0010t0006g0117 a0020c0021t0004g0124 a0022c0040t0001g0112	21	272	0.0772	48	c.173 others(63): Show c.173+875_173+876insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106361970	T T	TTTCTTTC others(41): Show TTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0060 a0060	a0060c0072 a0060c0072	a0060c0072t0001 a0060c0072t0001	a0060c0072t0001g0254 a0060c0072t0001g0254	1	272	0.0037	48	c.173 others(63): Show c.173+891_173+892insCTTTCTTTCTTTCTTTCTTTTCTTTCTTTC TTTCTTTCTTTCTTTCTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106377621	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0002 a0001c0022t0002	a0001c0022t0002g0126 a0001c0022t0002g0126	1	272	0.0037	48	c.173 others(67): Show c.173+16567_173+16568insATTTATATATATATATATATATATAT ATATATATATATATATATATAT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CSF1R_chr5_150048295_150091554	150084343	A A	AAAAGAAA others(41): Show AAAAGAAAGAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0341 a0001c0005t0001g0341	1	406	0.0025	48	c.49+ others(63): Show c.49+2035_49+2036insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTCTTTCTTTCTTTCTTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150084390	A A	AGAAAGAA others(41): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0112 a0001c0004t0015g0112	1	406	0.0025	48	c.49+ others(63): Show c.49+1988_49+1989insCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTC	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150084390	A A	AGAAAGAA others(41): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0106 a0001c0004t0004g0106	1	406	0.0025	48	c.49+ others(63): Show c.49+1988_49+1989insCTTCCTTCCTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTC	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSGALNACT1_chr8_19399161_19762277	19657239	T T	TGATAAAC others(41): Show TGATAAACTGAAAGATAAACTGAAAGATAAACTGAAAGATAAACTGAAA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18971.hp2 NA18993.hp2 others(2): Show NA18966.hp1 NA18971.hp2 NA18993.hp2 NA19066.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0021 a0001c0001t0001g0134 a0001c0001t0001g0192 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0134 a0001c0001t0001g0192 a0001c0001t0010g0088 a0001c0001t0010g0150	5	238	0.0210	48	c.-39 others(69): Show c.-391-55422_-391-55375dupTTTCAGTTTATCTTTCAGTTTATC TTTCAGTTTATCTTTCAGTTTATC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667023	G G	GAAAGAAA others(41): Show GAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAAGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0026 a0002c0003t0026	a0002c0003t0026g0002 a0002c0003t0026g0002	1	238	0.0042	48	c.-39 others(69): Show c.-391-65159_-391-65158insTCTTTTCCTTTCTTTCTTTCTTTC TTTCTTTCTTTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSH1_chr17_63889918_63901574	63898087	C C	CTTCTTTC others(41): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	48	c.-15 others(59): Show c.-1577_-1576insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1514		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898172	C C	CTCTCTCT others(41): Show CTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	428	0.0023	48	c.-16 others(59): Show c.-1662_-1661insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA GAGAGAGAGAGAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1599		chr17	TogoVar
CSMD1_chr8_2930361_4999914	3411855	T T	TATGCACG others(41): Show TATGCACGTATATATGCACGTATATATGCACGTATATATGCACGTATAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0005 a0005	a0005c0107 a0005c0107	a0005c0107t0068 a0005c0107t0068	a0005c0107t0068g0073 a0005c0107t0068g0073	1	126	0.0079	48	c.156 others(67): Show c.1562-2251_1562-2250insGTATACGTGCATATATACGTGCATAT ATACGTGCATATATACGTGCAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3411972	A A	ATATATAC others(41): Show ATATATACACGTATATATGTATACGTGTATATACACGTATATATACGTG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0076 a0002c0076	a0002c0076t0035 a0002c0076t0035	a0002c0076t0035g0014 a0002c0076t0035g0014	1	126	0.0079	48	c.156 others(67): Show c.1562-2368_1562-2367insCACGTATATATACGTGTATATACACG TATACATATATACGTGTATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112369999	A A	AGAGGAAG others(41): Show AGAGGAAGAGGAAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02976.hp1 HG02735.hp2 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0002c0005t0001 a0001c0001t0002 a0002c0005t0001	a0001c0001t0002g0068 a0002c0005t0001g0035 a0001c0001t0002g0068 a0002c0005t0001g0035	2	80	0.0250	48	c.613 others(69): Show c.6136+10352_6136+10353insCTCTTCTTCCTCTTCCTCTTCTTC CTCTTCCTCTTCTTCCTCTTCCTC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	38/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113153126	A A	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0003 a0002c0027t0003	a0002c0027t0003g0047 a0002c0027t0003g0047	1	80	0.0125	48	c.709 others(67): Show c.709+20595_709+20596insCTTCCTTCCTTCTTTCTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	4/70			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542654	A A	ACATGTAT others(41): Show ACATGTATGTATATATATATATATATGTGTATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0378 a0001c0001t0022g0378	1	390	0.0026	48	c.230 others(65): Show c.230+7420_230+7421insCACATATATATATATATATACACATATA TATATATATATACATACATG	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1D_chr17_82237667_82278700	82260036	C C	CTGATATG others(41): Show CTGATATGACTGATGGTGTACTGACTGATGTGACTGATGGTGTACTGAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0202 a0001c0001t0026g0202	1	320	0.0031	48	c.188 others(65): Show c.188-4460_188-4459insCTCAGTACACCATCAGTCACATCAGTCA GTACACCATCAGTCATATCA	CSNK1D	ENSG00000141551.15	transcript	ENST00000314028.11	protein_coding	2/8			chr17	TogoVar
CSNK1E_chr22_38285691_38322433	38317347	T T	TCGCCGCC others(41): Show TCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0270 a0001c0001t0094g0270	1	412	0.0024	48	c.-20 others(57): Show c.-201_-200insGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCGGCGGCGGCG	CSNK1E	ENSG00000213923.13	transcript	ENST00000396832.6	protein_coding	1/11	3191		chr22	TogoVar
CSNK1G1_chr15_64160525_64361173	64238518	A A	AAAATATA others(41): Show AAAATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0119 a0001c0001t0012g0119	1	176	0.0057	48	c.292 others(67): Show c.292+12993_292+12994insATATATATATATATATATATATATAT ATATATATATATATATATATTT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK1G2_chr19_1936172_1986338	1968051	C C	CGACCACC others(41): Show CGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCCAGGCTGTCCCTG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	382	0.0026	48	c.-26 others(67): Show c.-265-1457_-265-1456insGACCACCCTTCAGTTCTGCAGGTGGG GCTCCTCCCCAGGCTGTCCCTG	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11			chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1968242	T T	TGGGGCTC others(41): Show TGGGGCTCCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG01516.hp1 others(23): Show HG00323.hp1 HG00438.hp2 HG01516.hp1 HG01928.hp1 HG02056.hp2 HG02080.hp2 HG02132.hp2 HG03017.hp2 HG03041.hp2 HG03669.hp2 HG03704.hp1 HG04204.hp2 NA18612.hp1 NA18945.hp1 NA18947.hp2 NA18954.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18969.hp1 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA19009.hp1 NA19066.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 a0001c0001t0001 a0001c0001t0007 a0001c0002t0002	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0170 others(23): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0295 a0001c0001t0001g0344 a0001c0001t0007g0252 a0001c0002t0002g0226	26	382	0.0681	48	c.-26 others(67): Show c.-265-1254_-265-1253insCAGGCTGCCCCCGACCACCCTTCAGT TCTGCAGGTGGGGGCTCCTCCC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSNKA2IP_chr3_88333456_88472594	88445976	C C	CTCTCTCT others(41): Show CTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0283 a0002c0002t0002g0283	1	386	0.0026	48	c.-27 others(69): Show c.-270-19109_-270-19108insCTCTCTCTCTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSPP1_chr8_67059392_67201614	67159956	T T	TTTCTTTT others(41): Show TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	158	0.0063	48	c.253 others(65): Show c.2538+819_2538+820insTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTC	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30			chr8	TogoVar
CSTPP1_chr11_46931761_47167247	47097452	G G	GGGGGGGT others(41): Show GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	224	0.0045	48	c.281 others(67): Show c.281-40187_281-40186insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGG	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CTBS_chr1_84544611_84579440	84574524	C C	CGGGAGGG others(41): Show CGGGAGGGGCGGGGAGGGGCGGGAGGGGCGGGGAGGGGCGGGAGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01346.hp1 HG02148.hp1 HG01192.hp1 HG01346.hp1 HG02148.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0005 a0002c0005t0004g0005	3	340	0.0088	48	c.-11 others(57): Show c.-110_-109insCGCCCCTCCCGCCCCTCCCCGCCCCTCCCGCCCCTC CCCGCCCCTCCC	CTBS	ENSG00000117151.13	transcript	ENST00000370630.6	protein_coding		85		chr1	TogoVar
CTIF_chr18_48534031_48868217	48624077	T T	TTTGACAC others(41): Show TTTGACACCACGCCCCTCCCCATGCTTGACACCACGCCCCTCCCCATGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp1 HG02132.hp2 others(4): Show HG00639.hp2 HG01106.hp1 HG02132.hp2 HG02135.hp1 NA19030.hp2 NA20905.hp2 NA21309.hp2	a0002 a0002	a0002c0004 a0002c0012 a0002c0013 a0002c0004 a0002c0012 a0002c0013	a0002c0004t0005 a0002c0004t0014 a0002c0004t0016 others(3): Show a0002c0004t0005 a0002c0004t0014 a0002c0004t0016 a0002c0004t0024 a0002c0012t0002 a0002c0013t0001	a0002c0004t0005g0054 a0002c0004t0014g0114 a0002c0004t0016g0012 others(4): Show a0002c0004t0005g0054 a0002c0004t0014g0114 a0002c0004t0016g0012 a0002c0004t0016g0041 a0002c0004t0024g0113 a0002c0012t0002g0123 a0002c0013t0001g0016	7	144	0.0486	48	c.180 others(65): Show c.180+4366_180+4367insGCCCCTCCCCATGCTTGACACCACGCCC CTCCCCATGCTTGACACCAC	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTNNA2_chr2_79508051_80653780	80559873	C C	CATATCTA others(41): Show CATATCTATCTATCTATCTATCTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	68	0.0147	48	c.174 others(67): Show c.1741+3984_1741+3985insCTATCTATCTATCTATCTATATATAT ATATATATATATATATATATAT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80559873	C C	CATATCTA others(41): Show CATATCTATCTATCTATCTATCTATCTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	68	0.0147	48	c.174 others(67): Show c.1741+3984_1741+3985insCTATCTATCTATCTATCTATCTATAT ATATATATATATATATATATAT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80559891	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0061 a0001c0001t0004g0061	1	68	0.0147	48	c.174 others(67): Show c.1741+3999_1741+4000insTATATATATATATATATATATATATA TATATATATATATATACACACA	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA3_chr10_65907523_67701195	66421897	G G	GATGTGTA others(41): Show GATGTGTATATATATATATATATATATATATATATATATGTATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	1	46	0.0217	48	c.153 others(69): Show c.1532-42546_1532-42545insATATATATACATATATATATATAT ATATATATATATATATATACACAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	11/17			chr10	TogoVar
CTPS1_chr1_40974696_41017565	40980332	T T	TCGGGCGC others(41): Show TCGGGCGCATGGCTCGTCACATCCCCTCGGGCTTGGCGTCTCGCTATTC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	388	0.0026	48	c.-14 others(63): Show c.-14+504_-14+505insGGGCGCATGGCTCGTCACATCCCCTCGGGC TTGGCGTCTCGCTATTCC	CTPS1	ENSG00000171793.17	transcript	ENST00000650070.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
CUL4A_chr13_113204613_113272108	113232218	G G	GCTGCTGC others(41): Show GCTGCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTATTACTA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03130.hp1 HG01123.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0211 a0001c0001t0001g0200 a0001c0001t0001g0211	2	396	0.0051	48	c.513 others(63): Show c.513-955_513-954insTGCCACCACCAGTATTACTGTCACCGCCAC CACCGCTATTACTACTGC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL9_chr6_43177196_43229587	43223489	A A	AGGGCATG others(41): Show AGGGCATGTTGGGTCCTTTTGCCTCCCAGGCCTCTACTGATGGACTTCT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03225.hp1 HG03098.hp2 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0119 a0001c0003t0001g0120	2	276	0.0073	48	c.728 others(63): Show c.7284+93_7284+94insGGCATGTTGGGTCCTTTTGCCTCCCAGGCC TCTACTGATGGACTTCTG	CUL9	ENSG00000112659.14	transcript	ENST00000252050.9	protein_coding	39/40		INFO_REALIGN_3_PRIME	chr6	TogoVar
CWC27_chr5_64763930_65023750	64799602	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0110 a0002c0002t0001g0110	1	260	0.0039	48	c.670 others(63): Show c.670-646_670-645insTATATATATATATATATATATATATATATA TATATATATATATATATG	CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	7/13			chr5	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTGTGTAT others(41): Show GTGTGTATGTATGTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0052 a0003c0003t0002g0052	1	392	0.0026	48	c.161 others(67): Show c.1618-9979_1618-9978insTATATATATATATATATATATATATA TATATATATACATACATACACA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWH43_chr4_48981275_49067079	49039322	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATATACTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	296	0.0034	48	c.180 others(67): Show c.1803+1153_1803+1154insTATATATATATATATATATATATATA TATATATACTGATATATATATA	CWH43	ENSG00000109182.12	transcript	ENST00000226432.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CXorf38_chrX_40621921_40652561	40651535	A A	AAACAGAA others(41): Show AAACAGAATATTAAATTTATTACTGGCAAACGGACACTGATTTATTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	304	0.0033	48	c.-40 others(59): Show c.-4063_-4016dupGGAAATAAATCAGTGTCCGTTTGCCAGTAATAAA TTTAATATTCTGTT	CXorf38	ENSG00000185753.13	transcript	ENST00000327877.10	protein_coding		3975		chrX	TogoVar
CYBC1_chr17_82437586_82455752	82443764	G G	GGCCACGG others(41): Show GGCCACGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACCGGGAATGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02258.hp1 HG02559.hp2 others(10): Show HG02145.hp1 HG02258.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02723.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp1 NA19003.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0021 a0001c0001t0004 a0001c0002t0021	a0001c0001t0004g0008 a0001c0001t0004g0016 a0001c0001t0004g0044 others(2): Show a0001c0001t0004g0008 a0001c0001t0004g0016 a0001c0001t0004g0044 a0001c0001t0004g0046 a0001c0002t0021g0052	13	416	0.0313	48	c.19 others(57): Show c.192_*239dupACATTCCCGGTGTGCCTGAGCCCGTGCACCGCCCAC AGGACCCGTGGC	CYBC1	ENSG00000178927.19	transcript	ENST00000306645.10	protein_coding	7/7	239		chr17	TogoVar
CYBC1_chr17_82437586_82455752	82443817	C C	CGGGTCCT others(41): Show CGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACCGGGAATGTGCCAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0045 a0001c0001t0020g0045	1	416	0.0024	48	c.18 others(57): Show c.186_*187insATGGCACATTCCCGGTGTGCCTGAGCCCGTGCACCG CCCACAGGACCC	CYBC1	ENSG00000178927.19	transcript	ENST00000306645.10	protein_coding	7/7	186		chr17	TogoVar
CYBC1_chr17_82437586_82455752	82443830	C C	CGGTGCAC others(41): Show CGGTGCACGGGCTCAGGCACACCGGGAATGTGCCACGGGTCCTGTGGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0082 a0001c0001t0018g0082	1	416	0.0024	48	c.17 others(57): Show c.173_*174insACCCACAGGACCCGTGGCACATTCCCGGTGTGCCTG AGCCCGTGCACC	CYBC1	ENSG00000178927.19	transcript	ENST00000306645.10	protein_coding	7/7	173		chr17	TogoVar
CYFIP1_chr15_22862052_22985368	22875885	C C	CATACATA others(41): Show CATACATACATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0027 a0002c0003t0007g0027	1	342	0.0029	48	c.304 others(65): Show c.3043-615_3043-614insATATATATATATATATATATATATATAT ATATATATATATGTATGTAT	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	26/30			chr15	TogoVar
CYGB_chr17_76522356_76542709	76540389	C C	CAAAGGCT others(41): Show CAAAGGCTCTAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	396	0.0025	48	c.-28 others(59): Show c.-2848_-2847insTTTATTTTTTTTTTTTTTTGTTTTTTTTTTTTTT TTTTTAGAGCCTTT	CYGB	ENSG00000161544.10	transcript	ENST00000293230.10	protein_coding		2681		chr17	TogoVar
CYLC1_chrX_83856146_83891698	83878424	T T	TATATATA others(41): Show TATATATAAATATATATAAATATATATAAATATATAAATATATATATAA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	208	0.0048	48	c.192 others(67): Show c.1923+3800_1923+3801insAATATATATAAATATATATAAATATA TAAATATATATATAAATATATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYLC2_chr9_102990333_103023488	103013156	T T	TATATATT others(41): Show TATATATTATATAAATATATATTTAATATATTATATAAATATATATTTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02280.hp1 others(5): Show HG02109.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG03209.hp1 HG03225.hp2 HG03669.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0170 a0001c0001t0011g0007 a0001c0001t0011g0198 others(1): Show a0001c0001t0001g0170 a0001c0001t0011g0007 a0001c0001t0011g0198 a0001c0001t0011g0199	8	448	0.0179	48	c.81 others(67): Show c.816+1095_*816+1096insAATATATATTTAATATATTATATAAA TATATATTTAATATATTATATA	CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CYP11A1_chr15_74332762_74372646	74334652	G G	GTTCAGTG others(41): Show GTTCAGTGTATATCCAGGGTCAGGGTTCATTGTGTGACCAGGGTTAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	380	0.0026	48	c.33 others(59): Show c.3319_*3320insACCTAACCCTGGTCACACAATGAACCCTGACCCT GGATATACACTGAA	CYP11A1	ENSG00000140459.18	transcript	ENST00000268053.11	protein_coding		3109		chr15	TogoVar
CYP27C1_chr2_127178832_127225299	127198577	A A	ATGTTTTG others(41): Show ATGTTTTGGTCAATGATGGACCCAATATACAATGGTGATCCCATAAGAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	352	0.0028	48	c.104 others(65): Show c.1047+751_1047+798dupATCTTATGGGATCACCATTGTATATTGG GTCCATCATTGACCAAAACA	CYP27C1	ENSG00000186684.14	transcript	ENST00000664447.2	protein_coding	5/8			chr2	TogoVar
CYP2C9_chr10_94933658_94995091	94934654	A A	ATATATAT others(41): Show ATATATATGTATATATATATATATATATACGTGTGTGTATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	374	0.0027	48	c.-40 others(59): Show c.-4029_-4028insTATATATGTATATATATATATATATATACGTGTG TGTATATATATATG	CYP2C9	ENSG00000138109.11	transcript	ENST00000260682.8	protein_coding		4003		chr10	TogoVar

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