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
CLCN6_chr1_11801191_11848130	11830793	C C	CACACACA others(16): Show CACACACACACACTATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG02622.hp2 others(1): Show HG02280.hp2 HG02572.hp1 HG02622.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0053 a0001c0003t0004g0145 a0001c0003t0004g0146 others(1): Show a0001c0003t0004g0053 a0001c0003t0004g0145 a0001c0003t0004g0146 a0001c0003t0004g0149	4	236	0.0169	23	c.124 others(42): Show c.1248+1483_1248+1484insTATATATATATACACACACACAC	CLCN6	ENSG00000011021.23	transcript	ENST00000346436.11	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLDN19_chr1_42728093_42745236	42729445	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	353	0.0028	23	c.56 others(34): Show c.5640_*5641insATATATATATATATATATATATA	CLDN19	ENSG00000164007.11	transcript	ENST00000296387.6	protein_coding		3647		chr1	TogoVar
CLDN19_chr1_42728093_42745236	42729447	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA19030.hp1 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0011g0054 a0001c0001t0001g0001 a0001c0001t0011g0054	2	277	0.0072	23	c.56 others(34): Show c.5638_*5639insATATATATATATATATATATATA	CLDN19	ENSG00000164007.11	transcript	ENST00000296387.6	protein_coding		3645		chr1	TogoVar
CLDN19_chr1_42728093_42745236	42729451	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG03942.hp2 HG01123.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	8	0.2500	23	c.56 others(34): Show c.5634_*5635insATATATATATATATATATATATA	CLDN19	ENSG00000164007.11	transcript	ENST00000296387.6	protein_coding		3641		chr1	TogoVar
CLDN23_chr8_8696937_8709096	8705594	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0000 a0001c0001t0013g0000	1	81	0.0123	23	c.23 others(34): Show c.2317_*2318insAAAAAAAAAAAAAAAAAAAAAAA	CLDN23	ENSG00000253958.2	transcript	ENST00000519106.2	protein_coding		1499		chr8	TogoVar
CLEC16A_chr16_10939564_11187186	11036544	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03486.hp1 HG02723.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0007 a0001c0007t0017 a0001c0002t0007 a0001c0007t0017	a0001c0002t0007g0230 a0001c0007t0017g0147 a0001c0002t0007g0230 a0001c0007t0017g0147	2	104	0.0192	23	c.153 others(42): Show c.1538-3188_1538-3187insTTTTTTTTTTTTTTTTTTTTTTT	CLEC16A	ENSG00000038532.17	transcript	ENST00000409790.6	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLEC4C_chr12_7724383_7752375	7750822	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG02083.hp2 NA18975.hp2 HG00423.hp1 HG02083.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0026 a0001c0001t0003g0162 a0001c0001t0003g0003 a0001c0001t0003g0026 a0001c0001t0003g0162	3	261	0.0115	23	c.-34 others(34): Show c.-3475_-3474insTTTTTTTTTTTTTTTTTTTTTTT	CLEC4C	ENSG00000198178.11	transcript	ENST00000360345.8	protein_coding		3448		chr12	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01516.hp2 HG00735.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	51	0.0392	23	c.-80 others(32): Show c.-805_-804insATATATATATATTTTTTTTTTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 NA18951.hp1 NA18990.hp1 HG04228.hp1 NA18951.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0028	3	52	0.0577	23	c.-80 others(32): Show c.-805_-804insATATATATATATATATTTTTTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG02735.hp2 HG03239.hp2 others(1): Show HG01975.hp2 HG02735.hp2 HG03239.hp2 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0001 a0001c0001t0001 a0002c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0035 a0002c0006t0001g0013 a0001c0001t0001g0001 a0001c0001t0001g0035 a0002c0006t0001g0013	4	53	0.0755	23	c.-80 others(32): Show c.-805_-804insATATATATATATATATATTTTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA19009.hp1 NA18985.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	51	0.0392	23	c.-80 others(32): Show c.-805_-804insATATATATATATATATATATTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0008 a0001c0004t0001g0008	1	50	0.0200	23	c.-80 others(32): Show c.-805_-804insATATATATATATATATATATATT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7736482	T T	TTCCTTCC others(16): Show TTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	430	0.0023	23	c.-43 others(34): Show c.-4381_-4380insGGAAGGAAGGAAGGAAGGAAGGA	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		4373		chr19	TogoVar
CLHC1_chr2_55167547_55237293	55217552	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0015 a0001c0005t0003g0015	1	248	0.0040	23	c.365 others(38): Show c.365+258_365+259insATATATATATATATATATATATT	CLHC1	ENSG00000162994.16	transcript	ENST00000401408.6	protein_coding	4/12			chr2	TogoVar
CLHC1_chr2_55167547_55237293	55236019	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0018 a0002c0001t0018	a0002c0001t0018g0254 a0002c0001t0018g0254	1	25	0.0400	23	c.-40 others(34): Show c.-4053_-4052insTTTTTTTTTTTTTTTTTTTTTTT	CLHC1	ENSG00000162994.16	transcript	ENST00000401408.6	protein_coding		3727		chr2	TogoVar
CLIC2_chrX_155271211_155339614	155297884	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp2 HG02055.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0139 a0001c0001t0005g0048 a0001c0001t0001g0139 a0001c0001t0005g0048	2	109	0.0183	23	c.293 others(38): Show c.293+900_293+901insCTTTTTTTTTTTTTTTTTTTTTT	CLIC2	ENSG00000155962.13	transcript	ENST00000369449.7	protein_coding	3/5			chrX	TogoVar
CLIP1_chr12_122266469_122427669	122299612	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03139.hp1 HG02145.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0025 a0001c0001t0004g0026	2	86	0.0233	23	c.359 others(44): Show c.3594+10149_3594+10150insTTTTTTTTTTTTTTTTTTTTTTT	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	20/25			chr12	TogoVar
CLIP1_chr12_122266469_122427669	122330597	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03540.hp1 HG03831.hp2 HG02630.hp1 HG03540.hp1 HG03831.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0006 a0001c0001t0011 a0007c0008t0011 a0001c0001t0006 a0001c0001t0011 a0007c0008t0011	a0001c0001t0006g0224 a0001c0001t0011g0231 a0007c0008t0011g0226 a0001c0001t0006g0224 a0001c0001t0011g0231 a0007c0008t0011g0226	3	34	0.0882	23	c.286 others(42): Show c.2868-2172_2868-2171insAAAAAAAAACAAAAAAAAAAAAA	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	15/25			chr12	TogoVar
CLIP1_chr12_122266469_122427669	122330597	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0222 a0001c0001t0006g0222	1	32	0.0313	23	c.286 others(42): Show c.2868-2172_2868-2171insAAAAAAAAAAAAAAAAAAAAAAA	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	15/25			chr12	TogoVar
CLIP1_chr12_122266469_122427669	122379943	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01258.hp2 HG03017.hp2 others(8): Show HG00423.hp1 HG01258.hp2 HG03017.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03704.hp2 NA18942.hp1 NA18980.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 others(8): Show a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0200	11	148	0.0743	23	c.85+ others(36): Show c.85+424_85+425insTTTTTTTTTTTTTTTTTTTTTTT	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	2/25			chr12	TogoVar
CLMN_chr14_95176940_95324908	95197298	G G	GAAGAAGA others(16): Show GAAGAAGAAGAAAGAAGAAAGGAC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0247 a0001c0001t0004g0247	1	274	0.0036	23	c.251 others(40): Show c.2512-627_2512-605dupGTCCTTTCTTCTTTCTTCTTCTT	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	9/12			chr14	TogoVar
CLMP_chr11_123064872_123200248	123111857	C C	CACTGTTT others(16): Show CACTGTTTTAACTTATTCCAACTG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0107 a0002c0002t0025g0107	1	252	0.0040	23	c.29- others(40): Show c.29-13928_29-13906dupCAGTTGGAATAAGTTAAAACAGT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123150480	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	125	0.0080	23	c.28+ others(40): Show c.28+44432_28+44433insCTTTCTTTCTTTCTTTCTTTCTT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLN3_chr16_28472279_28497074	28478617	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	175	0.0057	23	c.105 others(40): Show c.1057-763_1057-741dupTTTTTTTTTTTTTTTTTTTTTTT	CLN3	ENSG00000188603.22	transcript	ENST00000636147.2	protein_coding	14/15			chr16	TogoVar
CLNK_chr4_10481395_10689768	10578579	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0068 a0001c0001t0004g0068	1	27	0.0370	23	c.112 others(40): Show c.112+6325_112+6347dupAAAAAAAAAAAAAAAAAAAAAAA	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	4/18			chr4	TogoVar
CLOCK_chr4_55422903_55551909	55442669	A A	ACTGAAAA others(16): Show ACTGAAAATAATTATTTGGGAAGT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0270 a0001c0002t0012g0270	1	336	0.0030	23	c.190 others(38): Show c.1903-58_1903-36dupACTTCCCAAATAATTATTTTCAG	CLOCK	ENSG00000134852.15	transcript	ENST00000513440.6	protein_coding	20/22			chr4	TogoVar
CLPB_chr11_72280495_72439531	72365605	A A	AATCCTAA others(16): Show AATCCTAAGCAAAAGAACAAAGCC	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18946.hp1 NA18952.hp1 others(9): Show HG03130.hp2 NA18946.hp1 NA18952.hp1 NA18967.hp1 NA18970.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA19003.hp1 NA19005.hp1 NA19062.hp2 NA19074.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0004 a0008c0005 a0001c0001 a0001c0004 a0008c0005	a0001c0001t0012 a0001c0001t0013 a0001c0001t0072 others(5): Show a0001c0001t0012 a0001c0001t0013 a0001c0001t0072 a0001c0001t0122 a0001c0001t0123 a0001c0001t0126 a0001c0004t0012 a0008c0005t0124	a0001c0001t0012g0186 a0001c0001t0012g0190 a0001c0001t0013g0182 others(8): Show a0001c0001t0012g0186 a0001c0001t0012g0190 a0001c0001t0013g0182 a0001c0001t0013g0188 a0001c0001t0013g0189 a0001c0001t0072g0184 a0001c0001t0122g0187 a0001c0001t0123g0183 a0001c0001t0126g0185 a0001c0004t0012g0001 a0008c0005t0124g0002	12	204	0.0588	23	c.737 others(40): Show c.737-6620_737-6598dupGGCTTTGTTCTTTTGCTTAGGAT	CLPB	ENSG00000162129.15	transcript	ENST00000294053.9	protein_coding	5/16			chr11	TogoVar
CLPX_chr15_65143219_65190342	65168383	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0176 a0001c0004t0014g0176	1	21	0.0476	23	c.359 others(40): Show c.359-1621_359-1599dupTTTTTTTTTTTTTTTTTTTTTTT	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding	3/13			chr15	TogoVar
CLSTN1_chr1_9723926_9828965	9747176	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0070 a0003c0004t0002g0070	1	148	0.0068	23	c.985 others(40): Show c.985+2262_985+2284dupTTTTTTTTTTTTTTTTTTTTTTT	CLSTN1	ENSG00000171603.18	transcript	ENST00000377298.9	protein_coding	7/18			chr1	TogoVar
CLSTN2_chr3_139930185_140582397	139998336	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG01884.hp1 HG01884.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0003 a0002c0002t0004 a0001c0003t0003 a0002c0002t0004	a0001c0003t0003g0010 a0002c0002t0004g0106 a0001c0003t0003g0010 a0002c0002t0004g0106	2	6	0.3333	23	c.109 others(42): Show c.109+62873_109+62874insTTTTTTTTTTTTTTTTTTTTTTT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140076625	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0008 a0004c0012t0008	a0004c0012t0008g0041 a0004c0012t0008g0041	1	10	0.1000	23	c.110 others(42): Show c.110-99320_110-99298dupTTTTTTTTTTTTTTTTTTTTTTT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLTA_chr9_36185921_36217059	36216330	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	398	0.0025	23	c.45 others(34): Show c.4556_*4557insGTGTGTGTGTGTGTGTGTGTGTG	CLTA	ENSG00000122705.18	transcript	ENST00000345519.10	protein_coding		4272		chr9	TogoVar
CLTCL1_chr22_19174473_19296719	19291870	C C	CCCCCGCC others(16): Show CCCCCGCCCCTGCCCCCGCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0039 a0002c0001t0002g0039	1	344	0.0029	23	c.-23 others(32): Show c.-230_-229insCAGAGGCGGGGGCAGGGGCGGGG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding		152		chr22	TogoVar
CLYBL_chr13_99601690_99897570	99797560	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02717.hp2 NA18998.hp1 HG00673.hp1 HG02717.hp2 NA18998.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0078 a0002c0002t0001g0178 a0003c0003t0001g0050 a0001c0001t0001g0078 a0002c0002t0001g0178 a0003c0003t0001g0050	3	36	0.0833	23	c.249 others(42): Show c.249+24550_249+24551insGTGTGTGTGTGTGTGTGTGTGTG	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8			chr13	TogoVar
CLYBL_chr13_99601690_99897570	99833031	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	169	0.0059	23	c.250 others(42): Show c.250-25830_250-25829insATATATATATATATATATATATA	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8			chr13	TogoVar
CMC1_chr3_28236619_28330142	28274206	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA19000.hp2 HG01975.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0012 a0001c0001t0005g0243 a0001c0001t0001g0012 a0001c0001t0005g0243	2	257	0.0078	23	c.109 others(42): Show c.109+10831_109+10832insTTTTTTTTTTTTTTTTTTTTTTT	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC2_chr16_80961448_81011885	80965196	A A	ATATATAT others(16): Show ATATATATGCATATATATATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG02486.hp2 others(2): Show HG01257.hp1 HG01258.hp2 HG02486.hp2 NA18947.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0106 a0001c0001t0002 a0001c0001t0022 a0001c0001t0106	a0001c0001t0002g0002 a0001c0001t0002g0037 a0001c0001t0022g0187 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0037 a0001c0001t0022g0187 a0001c0001t0106g0244	5	361	0.0139	23	c.10 others(36): Show c.10896_*10897insACATATATATATATGCATATATA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1251		chr16	TogoVar
CMIP_chr16_81439808_81716762	81615619	T T	TGTGTGTG others(16): Show TGTGTGTGTATGTGTAACTGTATG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18947.hp1 NA19011.hp2 NA18945.hp2 NA18947.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0034 a0001c0001t0008 a0001c0001t0034	a0001c0001t0008g0078 a0001c0001t0008g0112 a0001c0001t0034g0116 a0001c0001t0008g0078 a0001c0001t0008g0112 a0001c0001t0034g0116	3	266	0.0113	23	c.427 others(40): Show c.427-5242_427-5220dupAACTGTATGGTGTGTGTATGTGT	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81668850	T T	TCACTGCC others(16): Show TCACTGCCTTCCACACCCACCTCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(119): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00735.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03669.hp1 HG03831.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18945.hp1 NA18947.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19057.hp2 NA19060.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0031 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0002t0001 a0001c0002t0004 a0001c0005t0043 a0001c0007t0005	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(119): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0247 a0001c0001t0001g0253 a0001c0001t0002g0211 a0001c0001t0002g0215 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0248 a0001c0001t0003g0015 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0094 a0001c0001t0003g0098 a0001c0001t0003g0143 a0001c0001t0004g0011 a0001c0001t0004g0095 a0001c0001t0004g0120 a0001c0001t0004g0159 a0001c0001t0005g0023 a0001c0001t0005g0043 a0001c0001t0005g0050 a0001c0001t0005g0054 a0001c0001t0006g0044 a0001c0001t0006g0104 a0001c0001t0006g0182 a0001c0001t0006g0198 a0001c0001t0007g0229 a0001c0001t0007g0234 a0001c0001t0007g0238 a0001c0001t0007g0246 a0001c0001t0007g0249 a0001c0001t0007g0250 a0001c0001t0007g0251 a0001c0001t0008g0081 a0001c0001t0008g0092 a0001c0001t0009g0069 a0001c0001t0009g0073 a0001c0001t0009g0076 a0001c0001t0009g0117 a0001c0001t0009g0132 a0001c0001t0009g0235 a0001c0001t0010g0006 a0001c0001t0010g0257 a0001c0001t0011g0153 a0001c0001t0012g0053 a0001c0001t0013g0148 a0001c0001t0014g0061 a0001c0001t0014g0128 a0001c0001t0014g0267 a0001c0001t0015g0218 a0001c0001t0015g0230 a0001c0001t0015g0244 a0001c0001t0016g0236 a0001c0001t0016g0242 a0001c0001t0017g0030 a0001c0001t0017g0070 a0001c0001t0018g0017 a0001c0001t0019g0068 a0001c0001t0023g0264 a0001c0001t0025g0191 a0001c0001t0027g0101 a0001c0001t0031g0158 a0001c0001t0034g0116 a0001c0001t0036g0224 a0001c0001t0038g0237 a0001c0001t0041g0220 a0001c0001t0042g0233 a0001c0001t0044g0214 a0001c0001t0045g0206 a0001c0001t0047g0075 a0001c0001t0048g0074 a0001c0001t0049g0091 a0001c0001t0050g0082 a0001c0001t0051g0085 a0001c0002t0001g0192 a0001c0002t0004g0162 a0001c0005t0043g0252 a0001c0007t0005g0190	122	265	0.4604	23	c.826 others(40): Show c.826-1287_826-1265dupGCCTTCCACACCCACCTCACACT	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81668850	T T	TCACTGCC others(16): Show TCACTGCCTTCCACACCCCCCTCA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0243 a0001c0001t0040g0243	1	144	0.0069	23	c.826 others(40): Show c.826-1275_826-1274insCCCTCACACTGCCTTCCACACCC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMPK1_chr1_47328790_47383839	47380250	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0082	1	179	0.0056	23	c.35 others(34): Show c.3505_*3506insTTTTTTTTTTTTTTTTTTTTTTT	CMPK1	ENSG00000162368.15	transcript	ENST00000371873.10	protein_coding		1412		chr1	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	59	0.0169	23	c.148 others(42): Show c.148-38298_148-38297insATATATATATATATATATTTTTT	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(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03834.hp2 HG02523.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0330 a0001c0001t0001g0109 a0001c0001t0001g0330	2	60	0.0333	23	c.148 others(42): Show c.148-38298_148-38297insATATATATATATATATTTTTTTT	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(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02080.hp2 HG02738.hp2 others(3): Show HG01109.hp1 HG02080.hp2 HG02738.hp2 HG03704.hp1 HG04115.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0153 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0153 a0001c0001t0001g0202 a0001c0001t0001g0256 a0001c0001t0002g0205	6	64	0.0938	23	c.148 others(42): Show c.148-38298_148-38297insATATATATATATATTTTTTTTTT	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(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18973.hp2 NA18985.hp2 others(3): Show HG03831.hp1 NA18973.hp2 NA18985.hp2 NA18987.hp1 NA19000.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0144 a0001c0001t0001g0244 others(3): Show a0001c0001t0001g0045 a0001c0001t0001g0144 a0001c0001t0001g0244 a0001c0001t0001g0290 a0001c0001t0001g0297 a0001c0001t0001g0336	6	64	0.0938	23	c.148 others(42): Show c.148-38298_148-38297insATATATATATATTTTTTTTTTTT	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(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	59	0.0169	23	c.148 others(42): Show c.148-38298_148-38297insATATATATATTTTTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32361285	A A	AGTTTTTT others(16): Show AGTTTTTTTTTTGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp1 HG03209.hp2 HG01109.hp2 HG02257.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0142 a0001c0001t0001g0192 a0001c0001t0001g0014 a0001c0001t0001g0142 a0001c0001t0001g0192	3	338	0.0089	23	c.321 others(40): Show c.321+3749_321+3750insTGTTTTTTTTTTTGTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32361286	G G	GTTTTTTT others(16): Show GTTTTTTTTTTGTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	55	0.0182	23	c.321 others(40): Show c.321+3749_321+3750insTGTTTTTTGTTTTTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32361286	G G	GTTTTTTT others(16): Show GTTTTTTTTTTGTTTTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18950.hp2 HG02970.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0114 a0001c0001t0001g0027 a0001c0001t0001g0114	2	56	0.0357	23	c.321 others(40): Show c.321+3749_321+3750insTGTTTTTTTGTTTTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32361286	G G	GTTTTTTT others(16): Show GTTTTTTTTTTGTTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp1 HG02559.hp1 others(4): Show HG02145.hp2 HG02280.hp1 HG02559.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0030 others(4): Show a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0087 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0163	7	61	0.1148	23	c.321 others(40): Show c.321+3749_321+3750insTGTTTTTTTTTTGTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar

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