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
DEPDC1B_chr5_60591912_60705166	60667904	T T	TACATATA others(21): Show TACATATATGTAAAAAATGGATATTTTAC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	284	0.0035	28	c.314 others(47): Show c.314+19057_314+19058insGTAAAATATCCATTTTTTACATATAT GT	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60667938	T T	TAAAAAAT others(21): Show TAAAAAATGGATATTTTATATATATATAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA19090.hp2 HG01074.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0269 a0001c0001t0001g0176 a0001c0001t0001g0269	2	168	0.0119	28	c.314 others(47): Show c.314+19023_314+19024insTTATATATATATAAAATATCCATTTT TT	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60668158	A A	ATTTTATA others(21): Show ATTTTATATATATATATAAAATGGATATT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG02015.hp2 others(3): Show HG00408.hp1 HG00544.hp1 HG02015.hp2 HG02132.hp1 NA19074.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0050 others(3): Show a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0066	6	231	0.0260	28	c.314 others(47): Show c.314+18803_314+18804insAATATCCATTTTATATATATATATAA AA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60668159	T T	TTATATAT others(21): Show TTATATATATATATAAAATGGATATTTTA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01515.hp2 others(10): Show HG01257.hp2 HG01258.hp1 HG01515.hp2 HG01517.hp2 HG02015.hp1 HG03017.hp2 NA18978.hp2 NA18999.hp2 NA19001.hp2 NA19070.hp2 NA19077.hp1 NA19084.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(10): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0225 a0001c0001t0001g0236 a0001c0001t0001g0269	13	170	0.0765	28	c.314 others(47): Show c.314+18802_314+18803insTAAAATATCCATTTTATATATATATA TA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60668183	T T	TTATATAT others(21): Show TTATATATATATATAAAATGGATATTTTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03491.hp1 NA18974.hp1 HG02109.hp2 HG03491.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0125 a0001c0001t0001g0258 a0001c0001t0001g0088 a0001c0001t0001g0125 a0001c0001t0001g0258	3	87	0.0345	28	c.314 others(47): Show c.314+18778_314+18779insTAAAATATCCATTTTATATATATATA TA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60668233	T T	TTATATAT others(21): Show TTATATATATATATAAAATGGATATTATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02258.hp1 HG02451.hp1 others(1): Show HG01261.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0067 a0001c0001t0001g0070 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071	4	128	0.0313	28	c.314 others(47): Show c.314+18701_314+18728dupTATAATATCCATTTTATATATATATA TA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60668259	A A	ATATATAT others(21): Show ATATATATATATATATAAAATGGATATTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02886.hp1 HG02965.hp2 others(4): Show HG01109.hp2 HG02886.hp1 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG04115.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 others(4): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0001g0073	7	127	0.0551	28	c.314 others(47): Show c.314+18702_314+18703insAAATATCCATTTTATATATATATATA TA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC5_chr22_31749019_31913033	31864501	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02129.hp2 HG04199.hp1 HG00733.hp1 HG02129.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0002t0001g0022 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0002t0001g0022	3	103	0.0291	28	c.333 others(47): Show c.3330+3092_3330+3093insATATATATATATATATATATATATAT AT	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	33/42		INFO_REALIGN_3_PRIME	chr22	TogoVar
DEPDC5_chr22_31749019_31913033	31902408	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA21309.hp1 HG02258.hp1 NA21309.hp1	a0005 a0005	a0005c0006 a0005c0015 a0005c0006 a0005c0015	a0005c0006t0009 a0005c0015t0009 a0005c0006t0009 a0005c0015t0009	a0005c0006t0009g0007 a0005c0015t0009g0008 a0005c0006t0009g0007 a0005c0015t0009g0008	2	40	0.0500	28	c.443 others(45): Show c.4436+607_4436+634dupTATATATATATATATATATATATATATA	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	41/42		INFO_REALIGN_3_PRIME	chr22	TogoVar
DEPTOR_chr8_119868722_120055918	119900380	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA21309.hp1 HG01243.hp1 NA21309.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0003 a0002c0001t0001 a0002c0001t0003	a0002c0001t0001g0005 a0002c0001t0003g0016 a0002c0001t0001g0005 a0002c0001t0003g0016	2	15	0.1333	28	c.122 others(47): Show c.122+26436_122+26437insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	119991030	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03688.hp2 HG01255.hp2 HG03688.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0003 a0001c0003t0001 a0002c0001t0003	a0001c0003t0001g0126 a0002c0001t0003g0010 a0001c0003t0001g0126 a0002c0001t0003g0010	2	159	0.0126	28	c.605 others(47): Show c.605-10463_605-10436dupCTTTCTTTCTTTCTTTCTTTCTTTCT TT	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120002791	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0152 a0003c0004t0002g0152	1	42	0.0238	28	c.791 others(43): Show c.791-185_791-184insAAAATATATATATATATATATATATATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120002791	A A	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02055.hp2 HG02886.hp2 HG00733.hp2 HG02055.hp2 HG02886.hp2	a0003 a0003	a0003c0004 a0003c0008 a0003c0004 a0003c0008	a0003c0004t0016 a0003c0008t0002 a0003c0004t0016 a0003c0008t0002	a0003c0004t0016g0150 a0003c0008t0002g0095 a0003c0008t0002g0192 a0003c0004t0016g0150 a0003c0008t0002g0095 a0003c0008t0002g0192	3	44	0.0682	28	c.791 others(43): Show c.791-185_791-184insAATATATATATATATATATATATATATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DERPC_chr16_69113010_69137588	69134486	T T	TGAATTGC others(21): Show TGAATTGCCTTCAGGGAAGGCAATTCAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	344	0.0029	28	c.-23 others(39): Show c.-2310_-2283dupTCTGAATTGCCTTCCCTGAAGGCAATTC	DERPC	ENSG00000286140.2	transcript	ENST00000519520.7	protein_coding		1899		chr16	TogoVar
DESI1_chr22_41593028_41626043	41594347	G G	GGGGGGGG others(21): Show GGGGGGGGTGGGGGGGGCGGTGGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0084 a0001c0001t0026g0084	1	302	0.0033	28	c.67 others(39): Show c.6749_*6750insACCCCCCCACCGCCCCCCCCACCCCCCC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3680		chr22	TogoVar
DGAT1_chr8_144309584_144331852	144313650	C C	CCGCCTCC others(21): Show CCGCCTCCCCGCGCCTCCCCGCCTCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01106.hp2 HG01168.hp1 others(7): Show HG01074.hp1 HG01106.hp2 HG01168.hp1 HG01256.hp1 HG01928.hp2 HG01952.hp2 HG02735.hp1 NA19000.hp2 NA19005.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 a0001c0001t0001 a0001c0001t0002 a0001c0001t0021	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0002 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0021g0070	10	161	0.0621	28	c.29 others(39): Show c.2903_*2904insCGGGGAGGCGGGGAGGCGCGGGGAGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		933		chr8	TogoVar
DGAT1_chr8_144309584_144331852	144313660	G G	GCGCCTCC others(21): Show GCGCCTCCCCGCCTCCCCGCACCGCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 NA19058.hp1 HG02451.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0003 a0001c0001t0002 a0001c0004t0003	a0001c0001t0002g0080 a0001c0004t0003g0060 a0001c0001t0002g0080 a0001c0004t0003g0060	2	300	0.0067	28	c.28 others(39): Show c.2893_*2894insGGAGGCGGTGCGGGGAGGCGGGGAGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		923		chr8	TogoVar
DGCR2_chr22_19031286_19127412	19062779	A A	ACTCTCTC others(21): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0149 a0002c0002t0002g0149	1	137	0.0073	28	c.625 others(43): Show c.625+395_625+422dupAGAGAGAGAGAGAGAGAGAGAGAGAGAG	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	5/9			chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGCGCGCG others(21): Show TGCGCGCGCGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	35	0.0286	28	c.-28 others(39): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCGCGCGCGC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGCGCG others(21): Show TGTGCGCGCGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0046	1	35	0.0286	28	c.-28 others(39): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCGCGCGCAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGCG others(21): Show TGTGTGCGCGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	35	0.0286	28	c.-28 others(39): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCGCGCACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(21): Show TGTGTGTGTGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 NA18955.hp2 NA18987.hp1 others(1): Show HG01346.hp1 NA18955.hp2 NA18987.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0005 a0001c0001t0003g0022 a0001c0002t0002g0002 a0001c0001t0003g0005 a0001c0001t0003g0022 a0001c0002t0002g0002	4	38	0.1053	28	c.-28 others(39): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(21): Show TGTGTGTGTGCGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 NA19078.hp2 HG03710.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	36	0.0556	28	c.-28 others(39): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCGCACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	35	0.0286	28	c.-28 others(39): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02622.hp2 NA18522.hp1 HG00735.hp2 HG02622.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	37	0.0811	28	c.-28 others(39): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	35	0.0286	28	c.-28 others(39): Show c.-2845_-2844insGCACACACACACACACACACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGKB_chr7_14140049_14907751	14212428	A A	ATTTTATT others(21): Show ATTTTATTTACTCTCATGTTTTGTGATTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	141	0.0071	28	c.212 others(49): Show c.2123-34278_2123-34277insAAATCACAAAACATGAGAGTAAAT AAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14392989	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0136 a0001c0002t0003g0136	1	142	0.0070	28	c.183 others(49): Show c.1836-47599_1836-47598insAAAAAAAAAAAAAAAAAAAAAAAA AAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14567347	A A	ATATAATT others(21): Show ATATAATTATATTATATATATTATATATT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0024 a0001c0017t0024	a0001c0017t0024g0146 a0001c0017t0024g0146	1	146	0.0068	28	c.177 others(47): Show c.1770+6864_1770+6865insAATATATAATATATATAATATAATTA TA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	20/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14747773	G G	GCACGCGC others(21): Show GCACGCGCGCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00597.hp2 others(3): Show HG00558.hp1 HG00558.hp2 HG00597.hp2 HG02071.hp2 NA19002.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0004t0001 a0002c0005t0006	a0001c0001t0001g0141 a0001c0001t0004g0142 a0001c0001t0007g0037 others(3): Show a0001c0001t0001g0141 a0001c0001t0004g0142 a0001c0001t0007g0037 a0001c0004t0001g0026 a0001c0004t0001g0035 a0002c0005t0006g0140	6	123	0.0488	28	c.168 others(45): Show c.168+6154_168+6155insTGTGTGTGTGTGCGCGCGCGCGCGCGTG	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	4/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14747775	G G	GCGCGCGC others(21): Show GCGCGCGCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0010 a0001c0002t0003g0010	1	59	0.0169	28	c.168 others(45): Show c.168+6152_168+6153insTGTGTGTGTGTGTGTGTGCGCGCGCGCG	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	4/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14747775	G G	GCGCGCGC others(21): Show GCGCGCGCGCGCGCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0145 a0001c0006t0004g0145	1	59	0.0169	28	c.168 others(45): Show c.168+6152_168+6153insTGTGTGTGTGCGCGCGCGCGCGCGCGCG	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	4/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14852487	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0068 a0001c0002t0040g0068	1	13	0.0769	28	c.-18 others(49): Show c.-187-11038_-187-11037insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	1/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14857258	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG01109.hp1 others(7): Show HG00597.hp2 HG00621.hp1 HG01109.hp1 HG02056.hp2 HG02071.hp2 HG02165.hp2 HG02258.hp2 HG03942.hp2 NA18951.hp2 NA18993.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0023 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0002c0005t0006 a0002c0005t0011	a0001c0001t0001g0024 a0001c0001t0004g0142 a0001c0001t0007g0122 others(7): Show a0001c0001t0001g0024 a0001c0001t0004g0142 a0001c0001t0007g0122 a0001c0001t0023g0123 a0001c0004t0001g0109 a0001c0004t0001g0128 a0001c0004t0002g0116 a0001c0004t0004g0119 a0002c0005t0006g0140 a0002c0005t0011g0062	10	40	0.2500	28	c.-18 others(49): Show c.-187-15809_-187-15808insCACACACACACACACACACACACA CACA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	1/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14903212	A A	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0033 a0004c0010t0033	a0004c0010t0033g0007 a0004c0010t0033g0007	1	13	0.0769	28	c.-83 others(37): Show c.-836_-809dupACACACACACACACACACACACACACAC	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding		462		chr7	TogoVar
DGKG_chr3_186142201_186367234	186223011	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01993.hp2 HG02056.hp2 others(11): Show HG00280.hp2 HG01993.hp2 HG02056.hp2 HG02280.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG03486.hp1 NA18957.hp1 NA18969.hp1 NA18969.hp2 NA18991.hp1 NA19003.hp1 NA19085.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0003c0006	a0001c0002t0001 a0001c0002t0014 a0001c0002t0038 others(9): Show a0001c0002t0001 a0001c0002t0014 a0001c0002t0038 a0001c0003t0014 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0001t0016 a0002c0001t0017 a0002c0001t0036 a0003c0006t0004 a0003c0006t0010	a0001c0002t0001g0084 a0001c0002t0014g0193 a0001c0002t0038g0233 others(10): Show a0001c0002t0001g0084 a0001c0002t0014g0193 a0001c0002t0038g0233 a0001c0003t0014g0204 a0002c0001t0001g0113 a0002c0001t0001g0148 a0002c0001t0002g0149 a0002c0001t0005g0018 a0002c0001t0016g0001 a0002c0001t0017g0006 a0002c0001t0036g0080 a0003c0006t0004g0035 a0003c0006t0010g0209	14	28	0.5000	28	c.182 others(49): Show c.1827-11127_1827-11126insTATATATATATATATATATATATA TATA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	20/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186358506	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0233 a0001c0002t0038g0233	1	110	0.0091	28	c.-24 others(47): Show c.-249+3439_-249+3440insCACACACACACACACACACACACACA CA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	1/24			chr3	TogoVar
DGKH_chr13_42043648_42247896	42110587	A A	ATCATTCA others(21): Show ATCATTCATTCATTCATTCATTCATTCAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18947.hp1 HG01346.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0115 a0001c0002t0003 a0001c0003t0115	a0001c0002t0003g0114 a0001c0003t0115g0202 a0001c0002t0003g0114 a0001c0003t0115g0202	2	87	0.0230	28	c.193 others(47): Show c.193-16854_193-16853insATTCATTCATTCATTCATTCATTCAT TC	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00621.hp1 HG02155.hp1 HG02922.hp1 others(8): Show HG00621.hp1 HG02155.hp1 HG02922.hp1 HG03492.hp1 HG06807.hp1 NA18747.hp2 NA18946.hp2 NA18948.hp2 NA18979.hp2 NA18983.hp1 NA20129.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0008 a0010c0021 a0001c0001 a0001c0008 a0010c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0017 a0001c0001t0052 a0001c0001t0089 a0001c0001t0100 a0001c0008t0026 a0010c0021t0030	a0001c0001t0001g0131 a0001c0001t0003g0066 a0001c0001t0003g0087 others(8): Show a0001c0001t0001g0131 a0001c0001t0003g0066 a0001c0001t0003g0087 a0001c0001t0004g0094 a0001c0001t0005g0224 a0001c0001t0017g0018 a0001c0001t0052g0078 a0001c0001t0089g0260 a0001c0001t0100g0315 a0001c0008t0026g0235 a0010c0021t0030g0265	11	25	0.4400	28	c.623 others(39): Show c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKI_chr7_137376037_137851974	137618151	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0043 a0001c0007t0043	a0001c0007t0043g0090 a0001c0007t0043g0090	1	16	0.0625	28	c.993 others(45): Show c.993+1672_993+1673insAAAATATATATATATATATATATATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DHFR_chr5_80621226_80659983	80637285	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0086 a0001c0001t0013g0086	1	20	0.0500	28	c.369 others(43): Show c.369+570_369+597dupATATATATATATATATATATATATATAT	DHFR	ENSG00000228716.7	transcript	ENST00000439211.7	protein_coding	4/5			chr5	TogoVar
DHRS13_chr17_28892781_28908079	28903702	C C	CCTTCCTT others(21): Show CCTTCCTTCCTTCCTTCCTTCCTTCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG03471.hp2 HG03540.hp1 HG02723.hp2 HG03471.hp2 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0006 a0001c0004t0001g0006	3	402	0.0075	28	c.-75 others(37): Show c.-759_-758insAAGGGAAGGAAGGAAGGAAGGAAGGAAG	DHRS13	ENSG00000167536.14	transcript	ENST00000378895.9	protein_coding		624		chr17	TogoVar
DHRS3_chr1_12562910_12623210	12611934	A A	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18747.hp1 HG02056.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0003 a0001c0001t0022	a0001c0001t0003g0044 a0001c0001t0022g0218 a0001c0001t0003g0044 a0001c0001t0022g0218	2	167	0.0120	28	c.195 others(45): Show c.195+5219_195+5220insATTTATTTATTTATTTATTTATTTATTT	DHRS3	ENSG00000162496.9	transcript	ENST00000616661.5	protein_coding	1/5			chr1	TogoVar
DHRS4_chr14_23948770_23974279	23973254	C C	CAGAGGTC others(21): Show CAGAGGTCCCTGTAGCTTTCCACAGTACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0035 a0001c0003t0001g0035	1	266	0.0038	28	c.43 others(39): Show c.4383_*4384insAGAGGTCCCTGTAGCTTTCCACAGTACA	DHRS4	ENSG00000157326.19	transcript	ENST00000313250.10	protein_coding		3976		chr14	TogoVar
DHRS7C_chr17_9766438_9796592	9768850	C C	CTTATTTA others(21): Show CTTATTTATTTATTTATTTATTTATTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01515.hp2 HG01517.hp1 others(8): Show HG01074.hp2 HG01515.hp2 HG01517.hp1 HG03831.hp1 NA18944.hp2 NA18962.hp2 NA18970.hp2 NA18988.hp2 NA18999.hp2 NA19011.hp2 NA19070.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0006 a0001c0001 a0002c0002 a0003c0006	a0001c0001t0001 a0002c0002t0001 a0003c0006t0001 a0001c0001t0001 a0002c0002t0001 a0003c0006t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0138 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0138 a0001c0001t0001g0256 a0002c0002t0001g0007 a0002c0002t0001g0029 a0002c0002t0001g0121 a0002c0002t0001g0244 a0003c0006t0001g0065	11	180	0.0611	28	c.26 others(39): Show c.2637_*2638insATAAATAAATAAATAAATAAATAAATAA	DHRS7C	ENSG00000184544.12	transcript	ENST00000571134.2	protein_coding		2587		chr17	TogoVar
DHRS9_chr2_169064563_169101167	169079983	G G	GAGAGAGA others(21): Show GAGAGAGAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	210	0.0048	28	c.-59 others(45): Show c.-59-1537_-59-1536insGAGAGAGAAAGAAAGAAAGAAAGAAAGA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRSX_chrX_2214506_2505976	2225569	C C	CCTTGATC others(21): Show CCTTGATCTTAGACCTCCAGCCTCCAGGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0012 a0002c0002t0003g0012	1	48	0.0208	28	c.805 others(45): Show c.805-4368_805-4341dupTCCTGGAGGCTGGAGGTCTAAGATCAAG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2314483	A A	AAGGGGAG others(21): Show AAGGGGAGAAGGAAGGGAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18943.hp1 NA18952.hp2 HG01496.hp2 NA18943.hp1 NA18952.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0017 a0001c0001t0001g0019 a0002c0002t0002g0046 a0001c0001t0001g0017 a0001c0001t0001g0019 a0002c0002t0002g0046	3	33	0.0909	28	c.287 others(47): Show c.287-22881_287-22880insCCCTTCCTTCCTCCCTTCCTTCTCCC CT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2495648	C C	CCCTCCTT others(21): Show CCCTCCTTCCTCCTTCCTCCTTCCTCCTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	48	0.0208	28	c.109 others(45): Show c.109+5168_109+5169insAAGGAGGAAGGAGGAAGGAGGAAGGAGG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6			chrX	TogoVar
DHX15_chr4_24522475_24589554	24550094	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0339 a0001c0001t0001g0339	1	22	0.0455	28	c.108 others(47): Show c.1081-1100_1081-1073dupTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	5/13			chr4	TogoVar

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