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
CLASP1_chr2_121332776_121654462	121633028	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03486.hp2 NA18966.hp2 HG00438.hp1 HG03486.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0011 a0001c0002t0047 a0001c0002t0009 a0001c0002t0011 a0001c0002t0047	a0001c0002t0009g0187 a0001c0002t0011g0176 a0001c0002t0047g0179 a0001c0002t0009g0187 a0001c0002t0011g0176 a0001c0002t0047g0179	3	141	0.0213	32	c.-28 others(53): Show c.-286+16343_-286+16344insCATATATATATATATATATATATA TATATATA	CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding	1/40			chr2	TogoVar
CLASP2_chr3_33491245_33723254	33568553	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19066.hp1 NA19056.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0153 a0001c0001t0003g0034 a0001c0001t0003g0153	2	122	0.0164	32	c.276 others(51): Show c.2764-1820_2764-1819insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	26/38			chr3	TogoVar
CLASP2_chr3_33491245_33723254	33637918	G G	GTAATGTA others(25): Show GTAATGTACTTTATGTACAGAAATAATGTACAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18990.hp2 HG04204.hp2 NA18990.hp2	a0001 a0001	a0001c0008 a0001c0010 a0001c0008 a0001c0010	a0001c0008t0001 a0001c0010t0001 a0001c0008t0001 a0001c0010t0001	a0001c0008t0001g0002 a0001c0010t0001g0003 a0001c0008t0001g0002 a0001c0010t0001g0003	2	276	0.0072	32	c.863 others(49): Show c.863-5548_863-5547insATGTACATTATTTCTGTACATAAAGTAC ATTA	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	8/38			chr3	TogoVar
CLCC1_chr1_108924505_108968484	108956874	T T	TGGGAGGC others(25): Show TGGGAGGCTGGGAGGCTGGGAGGCGGGGAGGCG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG01169.hp1 others(15): Show HG00323.hp1 HG00423.hp1 HG01169.hp1 HG01257.hp2 HG01516.hp2 HG03017.hp2 HG03471.hp2 HG03669.hp1 NA18944.hp1 NA18944.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18978.hp1 NA19010.hp1 NA19055.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0038 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0038 a0001c0002t0001 a0001c0002t0002 a0002c0003t0005	a0001c0001t0038g0058 a0001c0002t0001g0031 a0001c0002t0002g0002 others(11): Show a0001c0001t0038g0058 a0001c0002t0001g0031 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0021 a0001c0002t0002g0072 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0085 a0001c0002t0002g0102 a0001c0002t0002g0134 a0001c0002t0002g0139 a0001c0002t0002g0156 a0002c0003t0005g0076	18	230	0.0783	32	c.-12 others(49): Show c.-12+5434_-12+5435insCGCCTCCCCGCCTCCCAGCCTCCCAGCC TCCC	CLCC1	ENSG00000121940.17	transcript	ENST00000369969.7	protein_coding	2/12			chr1	TogoVar
CLCC1_chr1_108924505_108968484	108956874	T T	TGGGAGGC others(25): Show TGGGAGGCTGGGAGGCTGGGAGGCTGGGAGGCG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0055 a0001c0002t0017g0055	1	213	0.0047	32	c.-12 others(49): Show c.-12+5434_-12+5435insCGCCTCCCAGCCTCCCAGCCTCCCAGCC TCCC	CLCC1	ENSG00000121940.17	transcript	ENST00000369969.7	protein_coding	2/12			chr1	TogoVar
CLCN4_chrX_10151975_10242660	10212837	G G	GCACACAC others(25): Show GCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0084 a0001c0001t0009g0084	1	57	0.0175	32	c.157 others(49): Show c.1576+186_1576+187insCACACACACACACACACACACACACACA CACA	CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLCN4_chrX_10151975_10242660	10216895	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0226 a0001c0001t0004g0226	1	257	0.0039	32	c.197 others(51): Show c.1975+2817_1975+2818insATATATATATATATATATATATATAT ATATAT	CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLCN4_chrX_10151975_10242660	10216918	T T	TATATATA others(25): Show TATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02976.hp1 HG02615.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0030 a0001c0001t0006 a0001c0001t0030	a0001c0001t0006g0063 a0001c0001t0030g0066 a0001c0001t0006g0063 a0001c0001t0030g0066	2	43	0.0465	32	c.197 others(51): Show c.1975+2840_1975+2841insTATATATATATATATATATATATACA CACACA	CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLCN4_chrX_10151975_10242660	10216918	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0108 a0001c0001t0004g0108	1	42	0.0238	32	c.197 others(51): Show c.1975+2840_1975+2841insTATATATATATATATATATATATATA TATACA	CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLCN6_chr1_11801191_11848130	11829529	T T	TGAACAAC others(25): Show TGAACAACCCTGGCGTCACAGAGGGGAACCTGG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	238	0.0042	32	c.124 others(49): Show c.1248+349_1248+380dupGTCACAGAGGGGAACCTGGGAACAACCC TGGC	CLCN6	ENSG00000011021.23	transcript	ENST00000346436.11	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLCN7_chr16_1439935_1480028	1440500	G G	GAAGAGAA others(25): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAACAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0024 a0002c0026t0024	a0002c0026t0024g0308 a0002c0026t0024g0308	1	365	0.0027	32	c.61 others(43): Show c.6130_*6131insTTCTGTTCTCTTCTCTTCTCTTCTCTTCTCTT	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding		4434		chr16	TogoVar
CLCNKA_chr1_16017036_16039050	16026999	A A	AACTTGAT others(25): Show AACTTGATCCTGCCCCTTGGCCTCTCTGAGCGC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0077 a0002c0002t0002g0077	1	390	0.0026	32	c.655 others(47): Show c.655+224_655+225insACTTGATCCTGCCCCTTGGCCTCTCTGAGC GC	CLCNKA	ENSG00000186510.12	transcript	ENST00000331433.5	protein_coding	7/19			chr1	TogoVar
CLC_chr19_39726255_39743029	39740727	C C	CGTATCAT others(25): Show CGTATCATTCTTATGCCTTTGCATAAGTCCATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03453.hp2 NA19043.hp1 others(1): Show HG03098.hp1 HG03453.hp2 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(1): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0058	4	440	0.0091	32	c.-27 others(43): Show c.-2776_-2775insAATGGACTTATGCAAAGGCATAAGAATGATAC	CLC	ENSG00000105205.7	transcript	ENST00000221804.5	protein_coding		2699		chr19	TogoVar
CLDN10_chr13_95547720_95584759	95575590	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0101 a0001c0001t0008g0101	1	292	0.0034	32	c.465 others(49): Show c.465-1629_465-1628insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	CLDN10	ENSG00000134873.10	transcript	ENST00000299339.3	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLDN1_chr3_190300707_190327446	190311721	C C	CATATATA others(25): Show CATATATAACACAGTGTATAGATATAAAGATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03654.hp1 HG03491.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0038 a0001c0001t0018g0038	2	466	0.0043	32	c.388 others(49): Show c.388+1119_388+1150dupATATCTTTATATCTATACACTGTGTTAT ATAT	CLDN1	ENSG00000163347.6	transcript	ENST00000295522.4	protein_coding	2/3			chr3	TogoVar
CLDN23_chr8_8696937_8709096	8703762	A A	AAAAATTC others(25): Show AAAAATTCCTGGCCATGTTTGAATGAGCCTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0000 a0001c0001t0011g0000	1	436	0.0023	32	c.48 others(41): Show c.488_*489insATTCCTGGCCATGTTTGAATGAGCCTCTTAAA	CLDN23	ENSG00000253958.2	transcript	ENST00000519106.2	protein_coding	1/1	489	INFO_REALIGN_3_PRIME	chr8	TogoVar
CLEC4F_chr2_70803643_70825599	70813597	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA19056.hp1 NA19082.hp2 others(1): Show HG03834.hp2 NA19056.hp1 NA19082.hp2 NA19091.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0001 a0003c0003 a0001c0002 a0002c0001 a0003c0003	a0001c0002t0002 a0002c0001t0001 a0003c0003t0003 a0001c0002t0002 a0002c0001t0001 a0003c0003t0003	a0001c0002t0002g0055 a0002c0001t0001g0099 a0003c0003t0003g0200 a0001c0002t0002g0055 a0002c0001t0001g0099 a0003c0003t0003g0200	4	42	0.0952	32	c.138 others(51): Show c.1388-1031_1388-1000dupAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGA	CLEC4F	ENSG00000152672.8	transcript	ENST00000272367.7	protein_coding	4/6			chr2	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	50	0.0200	32	c.-80 others(41): Show c.-805_-804insATATATATATATATATATATATATTTTTTTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG04115.hp2 HG02602.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	51	0.0392	32	c.-80 others(41): Show c.-805_-804insATATATATATATATATATATATATATTTTTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	50	0.0200	32	c.-80 others(41): Show c.-805_-804insATATATATATATATATATATATATATATATAT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLIC4_chr1_24740447_24849321	24820067	G G	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	175	0.0057	32	c.308 others(49): Show c.308+5849_308+5850insGTATATATATATATATATATATATATAT ATAT	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIC4_chr1_24740447_24849321	24820067	G G	GTGTGTAT others(25): Show GTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02572.hp2 HG02647.hp2 others(5): Show HG02165.hp1 HG02572.hp2 HG02647.hp2 HG03704.hp2 NA18747.hp1 NA18948.hp2 NA19003.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(5): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0036 a0001c0001t0001g0059 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0005g0092	8	182	0.0440	32	c.308 others(49): Show c.308+5849_308+5850insGTGTATATATATATATATATATATATAT ATAT	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIC4_chr1_24740447_24849321	24820067	G G	GTGTGTGT others(25): Show GTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	175	0.0057	32	c.308 others(49): Show c.308+5849_308+5850insGTGTGTATATATATATATATATATATAT ATAT	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIC5_chr6_45893456_46020860	45958441	T T	TATACACA others(25): Show TATACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0168 a0001c0001t0003g0168	1	302	0.0033	32	c.64- others(47): Show c.64-3198_64-3197insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT AT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLIC5_chr6_45893456_46020860	45958441	T T	TATATATA others(25): Show TATATATACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02083.hp1 HG03710.hp1 others(3): Show HG02071.hp2 HG02083.hp1 HG03710.hp1 HG03942.hp2 NA19070.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010	a0001c0001t0002g0115 a0001c0001t0002g0132 a0001c0001t0002g0133 others(3): Show a0001c0001t0002g0115 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0296 a0001c0001t0006g0079 a0001c0001t0010g0159	6	307	0.0195	32	c.64- others(47): Show c.64-3198_64-3197insGTGTGTGTGTGTGTGTGTGTGTGTGTATAT AT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLIC5_chr6_45893456_46020860	45958443	T T	TATACACA others(25): Show TATACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02970.hp1 HG02965.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0046 a0001c0001t0009 a0001c0001t0046	a0001c0001t0009g0119 a0001c0001t0046g0217 a0001c0001t0009g0119 a0001c0001t0046g0217	2	205	0.0098	32	c.64- others(47): Show c.64-3200_64-3199insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT AT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLIC5_chr6_45893456_46020860	45958443	T T	TATATACA others(25): Show TATATACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00423.hp1 others(23): Show HG00099.hp1 HG00323.hp1 HG00423.hp1 HG00642.hp1 HG00733.hp1 HG01346.hp1 HG01928.hp1 HG01978.hp1 HG02273.hp2 HG02293.hp2 HG02683.hp1 HG02723.hp2 HG02896.hp1 HG03239.hp1 HG03486.hp2 HG03491.hp2 HG03579.hp1 HG03688.hp2 HG04199.hp2 HG04204.hp1 NA18944.hp1 NA18951.hp2 NA18982.hp1 NA19062.hp2 NA19065.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0020	a0001c0001t0001g0026 a0001c0001t0001g0054 a0001c0001t0001g0076 others(22): Show a0001c0001t0001g0026 a0001c0001t0001g0054 a0001c0001t0001g0076 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0318 a0001c0001t0002g0002 a0001c0001t0002g0245 a0001c0001t0002g0253 a0001c0001t0002g0269 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0298 a0001c0001t0002g0304 a0001c0001t0002g0307 a0001c0001t0002g0312 a0001c0001t0003g0270 a0001c0001t0004g0063 a0001c0001t0004g0211 a0001c0001t0004g0233 a0001c0001t0004g0264 a0001c0001t0005g0105 a0001c0001t0009g0299 a0001c0001t0009g0301 a0001c0001t0020g0101	26	229	0.1135	32	c.64- others(47): Show c.64-3200_64-3199insGTGTGTGTGTGTGTGTGTGTGTGTGTGTAT AT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLIP2_chr7_74284407_74410935	74361176	T T	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01081.hp1 HG01099.hp2 others(36): Show HG00741.hp2 HG01081.hp1 HG01099.hp2 HG01175.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02148.hp2 HG02257.hp2 HG02451.hp2 HG02486.hp2 HG02602.hp1 HG02683.hp2 HG02717.hp2 HG03017.hp1 HG04184.hp1 NA18612.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18964.hp1 NA18979.hp2 NA18994.hp1 NA19000.hp1 NA19012.hp2 NA19060.hp2 NA19068.hp1 NA19082.hp1 NA19240.hp1 NA20129.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0006 a0003c0011 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0016 a0002c0003t0002 a0002c0006t0002 a0002c0006t0013 a0003c0011t0002 a0005c0012t0001	a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0274 others(36): Show a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0274 a0001c0001t0002g0012 a0001c0001t0002g0184 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0017g0261 a0001c0002t0001g0041 a0001c0002t0001g0088 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0131 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0167 a0001c0002t0001g0197 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0216 a0001c0002t0001g0222 a0001c0002t0001g0229 a0001c0002t0001g0234 a0001c0002t0001g0248 a0001c0002t0001g0277 a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0002g0238 a0001c0002t0002g0243 a0001c0002t0002g0252 a0001c0002t0004g0071 a0001c0002t0016g0230 a0002c0003t0002g0160 a0002c0006t0002g0023 a0002c0006t0013g0042 a0003c0011t0002g0242 a0005c0012t0001g0265	39	67	0.5821	32	c.131 others(49): Show c.1319+899_1319+930dupTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCC	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
CLIP2_chr7_74284407_74410935	74361205	T T	TTCCTTCC others(25): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG04199.hp2 HG03017.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0109 a0001c0002t0005g0127 a0001c0002t0001g0109 a0001c0002t0005g0127	2	273	0.0073	32	c.131 others(49): Show c.1319+930_1319+931insTTCCTTCCTTCCTTCCTTCCTTCCTTCC CTCC	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
CLMN_chr14_95176940_95324908	95245225	T T	TTATATAT others(25): Show TTATATATATATATTATATATATATATATAATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02970.hp2 HG01261.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0035 a0001c0001t0007 a0001c0001t0035	a0001c0001t0007g0116 a0001c0001t0035g0143 a0001c0001t0007g0116 a0001c0001t0035g0143	2	260	0.0077	32	c.83- others(49): Show c.83-15124_83-15093dupTATTATATATATATATATAATATATATA TATA	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	1/12			chr14	TogoVar
CLMP_chr11_123064872_123200248	123150416	T T	TAAGAAAG others(25): Show TAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01192.hp2 HG02145.hp1 others(1): Show HG00609.hp2 HG01192.hp2 HG02145.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0001 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0036 a0001c0001t0001g0091 a0001c0001t0003g0179 others(1): Show a0001c0001t0001g0036 a0001c0001t0001g0091 a0001c0001t0003g0179 a0001c0001t0012g0186	4	169	0.0237	32	c.28+ others(49): Show c.28+44465_28+44496dupTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123150480	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG04115.hp1 HG03209.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0235 a0001c0001t0002g0195 a0001c0001t0002g0235	2	126	0.0159	32	c.28+ others(49): Show c.28+44432_28+44433insCCTTCCTTTCTTTCTTTCTTTCTTTCTT TCTT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123150480	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	125	0.0080	32	c.28+ others(49): Show c.28+44432_28+44433insCCTTTCCTTCTTTCTTTCTTTCTTTCTT TCTT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123150480	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	125	0.0080	32	c.28+ others(49): Show c.28+44432_28+44433insCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123150480	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAGGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0185 a0001c0001t0006g0185	1	125	0.0080	32	c.28+ others(49): Show c.28+44432_28+44433insCCTTCCTTTCCTTCTTTCTTTCTTTCTT TCTT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123150480	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0254 a0001c0001t0051g0254	1	125	0.0080	32	c.28+ others(49): Show c.28+44432_28+44433insCCTTCCTTCCTTCCTTTCTTTCTTTCTT TCTT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123150480	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02280.hp2 HG02273.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0028 a0001c0001t0014g0182 a0001c0001t0004g0028 a0001c0001t0014g0182	2	126	0.0159	32	c.28+ others(49): Show c.28+44432_28+44433insCCTTCCTTCCTTCCTTCCTTTCTTTCTT TCTT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLN8_chr8_1758789_1791570	1763615	G G	GCCGCGCC others(25): Show GCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	408	0.0025	32	c.-39 others(41): Show c.-394_-393insCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCC	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		173		chr8	TogoVar
CLNK_chr4_10481395_10689768	10537698	C C	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	296	0.0034	32	c.602 others(49): Show c.602+2795_602+2796insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10537702	C C	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02723.hp1 NA19240.hp2 HG00642.hp1 HG02723.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0016 a0001c0001t0007 a0001c0001t0010 a0001c0001t0016	a0001c0001t0007g0094 a0001c0001t0010g0211 a0001c0001t0016g0187 a0001c0001t0007g0094 a0001c0001t0010g0211 a0001c0001t0016g0187	3	252	0.0119	32	c.602 others(49): Show c.602+2791_602+2792insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	15	0.0667	32	c.602 others(49): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGGAAGGAAGGAAG GAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0119 a0001c0001t0048g0119	1	15	0.0667	32	c.602 others(49): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGGAAGGAAG GAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01934.hp1 HG02027.hp1 others(7): Show HG00280.hp1 HG01934.hp1 HG02027.hp1 HG02818.hp1 HG02922.hp2 HG03927.hp2 HG06807.hp2 NA18985.hp1 NA19030.hp1 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0008c0009	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0016 a0001c0001t0019 a0001c0001t0035 a0002c0002t0030 a0003c0003t0007 a0008c0009t0026	a0001c0001t0003g0212 a0001c0001t0003g0232 a0001c0001t0004g0281 others(7): Show a0001c0001t0003g0212 a0001c0001t0003g0232 a0001c0001t0004g0281 a0001c0001t0005g0260 a0001c0001t0016g0103 a0001c0001t0019g0014 a0001c0001t0035g0193 a0002c0002t0030g0318 a0003c0003t0007g0111 a0008c0009t0026g0274	10	24	0.4167	32	c.602 others(49): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGAAAGGAAG GAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCCTT others(25): Show CCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01993.hp1 HG02572.hp1 others(9): Show HG00735.hp1 HG01993.hp1 HG02572.hp1 HG03139.hp1 HG03139.hp2 HG03669.hp1 HG03688.hp2 NA18747.hp1 NA18947.hp2 NA19007.hp2 NA19088.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0029	a0001c0001t0001g0101 a0001c0001t0001g0134 a0001c0001t0001g0293 others(9): Show a0001c0001t0001g0101 a0001c0001t0001g0134 a0001c0001t0001g0293 a0001c0001t0002g0048 a0001c0001t0003g0207 a0001c0001t0003g0308 a0001c0001t0004g0036 a0001c0001t0006g0010 a0001c0001t0008g0223 a0001c0001t0011g0020 a0001c0001t0014g0180 a0001c0001t0029g0316	12	26	0.4615	32	c.602 others(49): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGAAAGAAAG GAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG01192.hp1 others(8): Show HG00140.hp2 HG00323.hp1 HG01192.hp1 HG01358.hp1 HG03453.hp1 HG03579.hp1 HG03688.hp1 NA18943.hp2 NA18950.hp2 NA18986.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0029 a0001c0001t0037 a0001c0001t0056	a0001c0001t0001g0294 a0001c0001t0003g0304 a0001c0001t0006g0075 others(8): Show a0001c0001t0001g0294 a0001c0001t0003g0304 a0001c0001t0006g0075 a0001c0001t0008g0253 a0001c0001t0009g0136 a0001c0001t0010g0248 a0001c0001t0014g0023 a0001c0001t0015g0144 a0001c0001t0029g0310 a0001c0001t0037g0214 a0001c0001t0056g0021	11	25	0.4400	32	c.602 others(49): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10616790	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATACA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp2 HG01109.hp2 HG02257.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0116 a0003c0003t0007g0117 a0003c0003t0007g0116 a0003c0003t0007g0117	2	214	0.0093	32	c.12- others(49): Show c.12-18742_12-18741insTGTATATATATATATATATATATATATA TATA	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10654384	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03704.hp1 HG02523.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0054 a0001c0001t0048 a0001c0001t0054	a0001c0001t0048g0119 a0001c0001t0054g0239 a0001c0001t0048g0119 a0001c0001t0054g0239	2	223	0.0090	32	c.11+ others(49): Show c.11+13474_11+13475insATATATATATATATATATATATATATAT ATAT	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10654389	A A	ATATATAT others(25): Show ATATATATATATATATATTTATATATTTATATT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02135.hp1 HG03669.hp1 others(7): Show HG00438.hp2 HG02135.hp1 HG03669.hp1 HG03688.hp1 NA18940.hp2 NA18998.hp1 NA19000.hp1 NA19005.hp1 NA19030.hp1 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0029 a0002c0002t0004 a0002c0002t0011 others(3): Show a0001c0001t0029 a0002c0002t0004 a0002c0002t0011 a0002c0002t0012 a0002c0002t0030 a0002c0002t0060	a0001c0001t0029g0310 a0001c0001t0029g0316 a0002c0002t0004g0051 others(7): Show a0001c0001t0029g0310 a0001c0001t0029g0316 a0002c0002t0004g0051 a0002c0002t0004g0060 a0002c0002t0004g0061 a0002c0002t0004g0087 a0002c0002t0011g0045 a0002c0002t0012g0054 a0002c0002t0030g0318 a0002c0002t0060g0044	10	276	0.0362	32	c.11+ others(49): Show c.11+13469_11+13470insAATATAAATATATAAATATATATATATA TATA	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLRN1_chr3_150921567_150977727	150969292	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA19074.hp2 NA18986.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0149 a0001c0001t0003g0150 a0001c0001t0001g0149 a0001c0001t0003g0150	2	389	0.0051	32	c.253 others(49): Show c.253+3163_253+3164insATATATATATATATATATATATATATAT ATAT	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA19056.hp2 NA19067.hp1 NA18956.hp2 NA19056.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0168 a0001c0001t0003g0019 a0001c0001t0003g0163 a0001c0001t0001g0168 a0001c0001t0003g0019 a0001c0001t0003g0163	3	296	0.0101	32	c.253 others(49): Show c.253+3142_253+3143insAAAATATATATATATATATATATATATA TATA	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar

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