Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CHRM3_chr1_239381568_239920450	239662893	C C	CTCCTCTT others(26): Show CTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01256.hp2 others(1): Show HG00639.hp1 HG00639.hp2 HG01256.hp2 HG01258.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0003c0004t0041 a0001c0001t0001 a0001c0001t0002 a0003c0004t0041	a0001c0001t0001g0010 a0001c0001t0002g0037 a0001c0001t0002g0051 others(1): Show a0001c0001t0001g0010 a0001c0001t0002g0037 a0001c0001t0002g0051 a0003c0004t0041g0043	4	10	0.4000	33	c.-24 others(54): Show c.-249-15291_-249-15290insCTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTC	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239874264	C C	CTATATAT others(26): Show CTATATATATCTATATACACAGTATATATATATA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0004 a0001c0001t0017g0004	1	114	0.0088	33	c.-19 others(52): Show c.-19-33159_-19-33127dupCTATATACACAGTATATATATATATA TATATAT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239874285	G G	GTATATAT others(26): Show GTATATATATATATATATATATATACACAGTATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0035 a0001c0001t0020g0035	1	53	0.0189	33	c.-19 others(52): Show c.-19-33124_-19-33123insCACAGTATATATATATATATATATAT ATATATA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNB3_chr8_42692366_42742407	42703435	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	167	0.0060	33	c.53- others(48): Show c.53-5281_53-5280insAAAAAAAAATATATATATATATATATATAT ATA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHRNB3_chr8_42692366_42742407	42703435	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp2 HG02015.hp2 others(5): Show HG00438.hp1 HG00735.hp2 HG02015.hp2 HG02523.hp1 HG02698.hp2 NA18947.hp1 NA19001.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0197 a0001c0001t0002g0198 others(4): Show a0001c0001t0002g0006 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0241	8	174	0.0460	33	c.53- others(48): Show c.53-5281_53-5280insAAAAAAATATATATATATATATATATATAT ATA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHRNB3_chr8_42692366_42742407	42703435	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	167	0.0060	33	c.53- others(48): Show c.53-5281_53-5280insAAAAATATATATATATATATATATATATAT ATA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHRNB3_chr8_42692366_42742407	42717403	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG04199.hp2 HG02165.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0210 a0001c0001t0002g0147 a0001c0001t0002g0210	2	17	0.1176	33	c.249 others(50): Show c.249+6971_249+6972insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAGAA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHST8_chr19_33616953_33778506	33618626	C C	CTCTTCTT others(26): Show CTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp2 NA19043.hp2 HG01515.hp2 HG01517.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0002 a0001c0001t0004g0006 a0001c0001t0007g0177 a0001c0001t0004g0002 a0001c0001t0004g0006 a0001c0001t0007g0177	3	93	0.0323	33	c.-38 others(44): Show c.-3834_-3833insTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding		3326		chr19	TogoVar
CHST9_chr18_26901481_27190308	27053218	G G	GGAAGAAG others(26): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0003 a0001c0001t0061g0003	1	153	0.0065	33	c.122 others(50): Show c.122-4748_122-4716dupTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTC	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	2/5			chr18	TogoVar
CHST9_chr18_26901481_27190308	27053256	A A	AAGAAGAA others(26): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0206 a0001c0001t0008g0206	1	167	0.0060	33	c.122 others(50): Show c.122-4754_122-4753insCCTTCTCCTTCTTCTTCTTCTTCTTCTT CTTCT	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	2/5			chr18	TogoVar
CHST9_chr18_26901481_27190308	27053256	A A	AAGAAGAA others(26): Show AAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	167	0.0060	33	c.122 others(50): Show c.122-4754_122-4753insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCT	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	2/5			chr18	TogoVar
CIAPIN1_chr16_57423187_57452385	57448585	T T	TGTGTGTG others(26): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	388	0.0026	33	c.-13 others(44): Show c.-1300_-1299insCACACACACACACACACACACACACACACACAC	CIAPIN1	ENSG00000005194.15	transcript	ENST00000394391.9	protein_coding		1201		chr16	TogoVar
CIART_chr1_150277554_150292093	150284003	T T	TTTATTAT others(26): Show TTTATTATTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0030 a0001c0003t0004g0030	1	354	0.0028	33	c.442 others(48): Show c.442+152_442+153insATTATTATTATTATTATTATTATTATTATT ATT	CIART	ENSG00000159208.16	transcript	ENST00000290363.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
CIB4_chr2_26576205_26646366	26589036	T T	TTCTTCTT others(26): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0107 a0002c0002t0002g0107	1	328	0.0030	33	c.329 others(50): Show c.329-5139_329-5138insGGAAGAGGAAGAAGAAGAAGAAGAAGAA GAAGA	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar
CIB4_chr2_26576205_26646366	26589099	T T	TTCCTCTT others(26): Show TTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18951.hp1 NA18954.hp2 HG00673.hp1 NA18951.hp1 NA18954.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0103 a0002c0002t0002g0134 a0002c0002t0002g0135 a0001c0001t0001g0103 a0002c0002t0002g0134 a0002c0002t0002g0135	3	246	0.0122	33	c.329 others(50): Show c.329-5202_329-5201insGGAAGAAGAAGAAGAAGAAGAAGAAGAA GAGGA	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar
CILK1_chr6_52996303_53066824	53013123	T T	TAGGTAAG others(26): Show TAGGTAAGACATGCACTATAATCTTCCTTTGATA	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	242	0.0041	33	c.115 others(50): Show c.1152+506_1152+538dupTATCAAAGGAAGATTATAGTGCATGTCT TACCT	CILK1	ENSG00000112144.16	transcript	ENST00000676107.1	protein_coding	9/13			chr6	TogoVar
CIP2A_chr3_108544864_108594438	108553894	T T	TACAAAAA others(26): Show TACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01516.hp2 HG03098.hp2 others(2): Show HG00741.hp2 HG01516.hp2 HG03098.hp2 HG03130.hp2 HG03669.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0019 a0001c0001 a0011c0019	a0001c0001t0001 a0011c0019t0001 a0001c0001t0001 a0011c0019t0001	a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0205 others(2): Show a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0205 a0001c0001t0001g0306 a0011c0019t0001g0107	5	121	0.0413	33	c.232 others(50): Show c.2325-165_2325-164insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	18/20			chr3	TogoVar
CIR1_chr2_174343022_174400712	174354583	A A	ATATATCA others(26): Show ATATATCATATAATATATATTATATTATATATTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03453.hp2 HG02647.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0117 a0001c0001t0002g0045 a0001c0001t0002g0117	2	342	0.0058	33	c.485 others(50): Show c.485-2859_485-2858insAAATATATAATATAATATATATTATATG ATATA	CIR1	ENSG00000138433.16	transcript	ENST00000342016.8	protein_coding	7/9			chr2	TogoVar
CIT_chr12_119680791_119882320	119765357	T T	TATATATA others(26): Show TATATATATATTATATATAATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0007 a0007	a0007c0036 a0007c0036	a0007c0036t0003 a0007c0036t0003	a0007c0036t0003g0207 a0007c0036t0003g0207	1	234	0.0043	33	c.230 others(52): Show c.2304+1697_2304+1729dupTAATATATATTATATTATATATAATA TATATAT	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	19/47			chr12	TogoVar
CIT_chr12_119680791_119882320	119765359	T T	TATATATA others(26): Show TATATATATTATATATAATATAATATATATTATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03579.hp1 HG02976.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0235 a0001c0002t0014g0236 a0001c0002t0014g0235 a0001c0002t0014g0236	2	234	0.0085	33	c.230 others(52): Show c.2304+1695_2304+1727dupTATAATATATATTATATTATATATAA TATATAT	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	19/47			chr12	TogoVar
CKMT2_chr5_81228322_81271398	81250940	A A	ACACACAC others(26): Show ACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	84	0.0119	33	c.-20 others(48): Show c.-20-173_-20-172insCACACACACACACACACACACACACACACA CAC	CKMT2	ENSG00000131730.16	transcript	ENST00000254035.9	protein_coding	1/9			chr5	TogoVar
CLASP2_chr3_33491245_33723254	33568553	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0003 a0006c0013t0003	a0006c0013t0003g0035 a0006c0013t0003g0035	1	121	0.0083	33	c.276 others(52): Show c.2764-1820_2764-1819insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	26/38			chr3	TogoVar
CLASP2_chr3_33491245_33723254	33571015	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA19240.hp2 HG03831.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0163 a0001c0001t0011g0062 a0001c0001t0003g0163 a0001c0001t0011g0062	2	153	0.0131	33	c.270 others(50): Show c.2700-226_2700-225insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	25/38			chr3	TogoVar
CLCN7_chr16_1439935_1480028	1440495	A A	AGAGAAGA others(26): Show AGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0025 a0002c0006t0025	a0002c0006t0025g0265 a0002c0006t0025g0265	1	365	0.0027	33	c.61 others(44): Show c.6135_*6136insCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding		4439		chr16	TogoVar
CLDN8_chr21_30209006_30221097	30210308	T T	TATATATA others(26): Show TATATATAGTCTCCCTAATTCTAATTCAAGGTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0000 a0001c0007t0001g0000	1	464	0.0022	33	c.49 others(44): Show c.4939_*4940insGTACCTTGAATTAGAATTAGGGAGACTATATAT	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3697		chr21	TogoVar
CLEC10A_chr17_7069537_7085251	7070600	A A	AAAAGAAA others(26): Show AAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0001	1	161	0.0062	33	c.44 others(44): Show c.4453_*4454insCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTT	CLEC10A	ENSG00000132514.14	transcript	ENST00000416562.7	protein_coding		3936		chr17	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	50	0.0200	33	c.-80 others(42): Show c.-805_-804insATATATATATATATATATATATTTTTTTTTTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	50	0.0200	33	c.-80 others(42): Show c.-805_-804insATATATATATATATATATATATATATTTTTTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLIP1_chr12_122266469_122427669	122379943	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	138	0.0072	33	c.85+ others(46): Show c.85+424_85+425insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	2/25			chr12	TogoVar
CLK4_chr5_178597664_178632050	178629319	T T	TTAATGAA others(26): Show TTAATGAAAAGGTTTATCTAAATTTCTGAGAATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	382	0.0026	33	c.-24 others(44): Show c.-2407_-2375dupGATTCTCAGAAATTTAGATAAACCTTTTCATTA	CLK4	ENSG00000113240.14	transcript	ENST00000316308.9	protein_coding		2270		chr5	TogoVar
CLNK_chr4_10481395_10689768	10537707	C C	CTTCCTTC others(26): Show CTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	318	0.0031	33	c.602 others(50): Show c.602+2786_602+2787insAGAAAGAAAGAAAGAAAGAAAGAAAGGA AGGAA	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLPB_chr11_72280495_72439531	72377649	A A	AAAGGGGA others(26): Show AAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02027.hp2 HG02055.hp1 others(18): Show HG00323.hp2 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02132.hp2 HG02809.hp1 HG03130.hp2 HG03139.hp1 NA18946.hp1 NA18952.hp1 NA18967.hp1 NA18970.hp2 NA18972.hp2 NA18979.hp1 NA18981.hp1 NA19003.hp1 NA19005.hp1 NA19062.hp2 NA19074.hp2 NA19090.hp1 NA20805.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0008c0005	a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 others(14): Show a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0072 a0001c0001t0122 a0001c0001t0123 a0001c0001t0126 a0001c0002t0004 a0001c0002t0009 a0001c0002t0074 a0001c0002t0095 a0001c0002t0097 a0001c0004t0012 a0008c0005t0124	a0001c0001t0008g0075 a0001c0001t0012g0190 a0001c0001t0013g0182 others(17): Show a0001c0001t0008g0075 a0001c0001t0012g0190 a0001c0001t0013g0182 a0001c0001t0013g0188 a0001c0001t0013g0189 a0001c0001t0032g0020 a0001c0001t0033g0021 a0001c0001t0034g0022 a0001c0001t0072g0184 a0001c0001t0122g0187 a0001c0001t0123g0183 a0001c0001t0126g0185 a0001c0002t0004g0166 a0001c0002t0009g0161 a0001c0002t0009g0164 a0001c0002t0074g0165 a0001c0002t0095g0163 a0001c0002t0097g0162 a0001c0004t0012g0001 a0008c0005t0124g0002	21	182	0.1154	33	c.646 others(50): Show c.646+2599_646+2631dupCCCTTCCCCTTCCCTTCCCCTTCCCTTC CCCTT	CLPB	ENSG00000162129.15	transcript	ENST00000294053.9	protein_coding	4/16			chr11	TogoVar
CLPTM1L_chr5_1312752_1350099	1332719	T T	TTATCACA others(26): Show TTATCACACTGTCCTGTCCTGTTTCTGTTACCAG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	368	0.0027	33	c.892 others(48): Show c.892-869_892-837dupCTGGTAACAGAAACAGGACAGGACAGTGTG ATA	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	294	0.0034	33	c.253 others(50): Show c.253+3142_253+3143insAAATATATATATATATATATATATATAT ATATA	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0153 a0001c0001t0003g0153	1	294	0.0034	33	c.253 others(50): Show c.253+3142_253+3143insAAAAAAATATATATATATATATATATAT ATATA	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140397979	T T	TTGAAATA others(26): Show TTGAAATATTGGTAAATTGTTAAACTCCCTGTGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01081.hp1 others(33): Show HG00735.hp2 HG00738.hp1 HG01081.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01884.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02886.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18977.hp2 NA19030.hp1 NA19066.hp2 NA19079.hp1 NA19087.hp2 NA20300.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0003 a0001c0006 others(7): Show a0001c0001 a0001c0003 a0001c0006 a0001c0009 a0002c0002 a0002c0005 a0002c0010 a0002c0016 a0004c0012 a0006c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0036 a0001c0001t0039 a0001c0003t0003 a0001c0003t0007 a0001c0003t0019 a0001c0003t0020 a0001c0006t0004 a0001c0009t0022 a0002c0002t0001 a0002c0002t0002 a0002c0002t0027 a0002c0005t0004 a0002c0010t0023 a0002c0016t0015 a0004c0012t0008 a0006c0024t0007	a0001c0001t0001g0003 a0001c0001t0001g0037 a0001c0001t0001g0056 others(33): Show a0001c0001t0001g0003 a0001c0001t0001g0037 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0002g0033 a0001c0001t0002g0091 a0001c0001t0006g0025 a0001c0001t0006g0095 a0001c0001t0007g0084 a0001c0001t0013g0017 a0001c0001t0014g0001 a0001c0001t0014g0032 a0001c0001t0036g0044 a0001c0001t0039g0080 a0001c0003t0003g0010 a0001c0003t0003g0070 a0001c0003t0003g0071 a0001c0003t0007g0075 a0001c0003t0019g0062 a0001c0003t0020g0009 a0001c0006t0004g0098 a0001c0009t0022g0049 a0002c0002t0001g0007 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0074 a0002c0002t0002g0029 a0002c0002t0002g0097 a0002c0002t0027g0058 a0002c0005t0004g0092 a0002c0010t0023g0079 a0002c0016t0015g0088 a0004c0012t0008g0041 a0006c0024t0007g0060	36	110	0.3273	33	c.233 others(50): Show c.233-5650_233-5649insTGAAATATTGGTAAATTGTTAAACTCCC TGTGG	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	2/16			chr3	TogoVar
CLUL1_chr18_591988_655182	627027	G G	GAGAAAAG others(26): Show GAGAAAAGAAGAAAGAGAAAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	204	0.0049	33	c.424 others(46): Show c.424-69_424-68insGAAAAGAAGAAAGAGAAAGAAAAGAAAAGAAA A	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLYBL_chr13_99601690_99897570	99794581	T T	TTTATTAT others(26): Show TTTATTATTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	35	0.0286	33	c.249 others(52): Show c.249+21597_249+21598insATTATTATTATTATTATTATTATTAT TATTATT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CMC2_chr16_80961448_81011885	80965188	A A	ATATATAT others(26): Show ATATATATATATATATGCATATATATATATGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01169.hp2 others(1): Show HG00099.hp2 HG00140.hp1 HG01169.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0243 a0001c0001t0002g0245 others(1): Show a0001c0001t0002g0049 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0249	4	405	0.0099	33	c.10 others(46): Show c.10904_*10905insATACATATATATATATGCATATATATATATAT A	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1259		chr16	TogoVar
CMC2_chr16_80961448_81011885	80965190	A A	ATATATAT others(26): Show ATATATATATATATGCATATATATATATGTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	400	0.0025	33	c.10 others(46): Show c.10902_*10903insATATACATATATATATATGCATATATATATAT A	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1257		chr16	TogoVar
CMC2_chr16_80961448_81011885	80965192	A A	ATATATAT others(26): Show ATATATATATATGCATATATATATATGTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0185 a0001c0001t0116g0185	1	391	0.0026	33	c.10 others(46): Show c.10900_*10901insATATATACATATATATATATGCATATATATAT A	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1255		chr16	TogoVar
CMKLR2_chr2_206170316_206218371	206171167	T T	TAATGAGC others(26): Show TAATGAGCATGCTGCCTTCAAGCATCTGTTTAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	320	0.0031	33	c.50 others(44): Show c.5012_*5013insGTTAAACAGATGCTTGAAGGCAGCATGCTCATT	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		4148		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206173056	A A	ACGGGAGA others(26): Show ACGGGAGAGGGAGACGGGAGAGGGAGAGGGAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	315	0.0032	33	c.31 others(44): Show c.3123_*3124insGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCG	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2259		chr2	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	59	0.0169	33	c.148 others(52): Show c.148-38298_148-38297insATATATATATATATATATATATATAT ATTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	59	0.0169	33	c.148 others(52): Show c.148-38298_148-38297insATATATATATATATATATATATATAT TTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32352781	T T	TTAGTGAA others(26): Show TTAGTGAACTTCTGAAAGCTGTTCTGCTTTTTAC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	342	0.0029	33	c.148 others(50): Show c.148-4585_148-4584insCTTCTGAAAGCTGTTCTGCTTTTTACTA GTGAA	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNGB1_chr16_57877340_57976128	57879787	T T	TTCTTTCT others(26): Show TTCTTTCTTTCTTTCTTTTTCTTTCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18948.hp1 NA18943.hp1 NA18948.hp1	a0001 a0001	a0001c0004 a0001c0017 a0001c0004 a0001c0017	a0001c0004t0001 a0001c0017t0001 a0001c0004t0001 a0001c0017t0001	a0001c0004t0001g0164 a0001c0017t0001g0139 a0001c0004t0001g0164 a0001c0017t0001g0139	2	169	0.0118	33	c.43 others(44): Show c.4376_*4377insGAAAGGAAAGAAAGAAAAAGAAAGAAAGAAAGA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2552		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879788	T T	TCTTTTTC others(26): Show TCTTTTTCTTTCTTTCCTTTCTTTCTTTCTTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01261.hp1 HG01496.hp1 others(2): Show HG00423.hp1 HG01261.hp1 HG01496.hp1 HG02738.hp1 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0005 a0001c0002 a0001c0003 a0002c0005	a0001c0002t0001 a0001c0003t0006 a0002c0005t0001 a0001c0002t0001 a0001c0003t0006 a0002c0005t0001	a0001c0002t0001g0162 a0001c0003t0006g0288 a0002c0005t0001g0015 others(2): Show a0001c0002t0001g0162 a0001c0003t0006g0288 a0002c0005t0001g0015 a0002c0005t0001g0016 a0002c0005t0001g0027	5	278	0.0180	33	c.43 others(44): Show c.4375_*4376insGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAAAG	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2551		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879831	T T	TCCTTCCT others(26): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA19005.hp2 NA18940.hp2 NA19005.hp2	a0003 a0008 a0003 a0008	a0003c0009 a0008c0020 a0003c0009 a0008c0020	a0003c0009t0009 a0008c0020t0009 a0003c0009t0009 a0008c0020t0009	a0003c0009t0009g0287 a0008c0020t0009g0081 a0003c0009t0009g0287 a0008c0020t0009g0081	2	261	0.0077	33	c.43 others(44): Show c.4332_*4333insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2508		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879835	T T	TCCTTCCT others(26): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0039 a0003c0009t0039	a0003c0009t0039g0307 a0003c0009t0039g0307	1	276	0.0036	33	c.43 others(44): Show c.4328_*4329insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2504		chr16	TogoVar

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