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
DENND10_chr10_119099113_119142984	119115382	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0291 a0001c0001t0004g0291	1	24	0.0417	33	c.333 others(50): Show c.333-2114_333-2113insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	DENND10	ENSG00000119979.18	transcript	ENST00000361432.3	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
DENND5B_chr12_31377226_31596136	31497833	A A	ATGGGGAG others(26): Show ATGGGGAGGGGAGGGGCATGGGGAGGGGAGGGGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01106.hp2 HG01168.hp2 others(43): Show HG00597.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01515.hp1 HG01517.hp2 HG01981.hp1 HG01993.hp2 HG02071.hp1 HG02083.hp1 HG02129.hp2 HG02145.hp2 HG02258.hp1 HG02300.hp2 HG02523.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG03453.hp2 HG03704.hp2 HG04184.hp2 HG04204.hp2 NA18522.hp2 NA18747.hp2 NA18942.hp1 NA18943.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18960.hp2 NA18965.hp1 NA18969.hp2 NA18975.hp2 NA18979.hp1 NA18992.hp2 NA18994.hp1 NA19004.hp2 NA19007.hp1 NA19043.hp2 NA19064.hp1 NA19065.hp2 NA19087.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0009 a0003c0003 a0003c0006 a0001c0009 a0003c0003 a0003c0006	a0001c0009t0050 a0003c0003t0002 a0003c0003t0008 others(6): Show a0001c0009t0050 a0003c0003t0002 a0003c0003t0008 a0003c0003t0012 a0003c0003t0031 a0003c0003t0036 a0003c0003t0037 a0003c0003t0038 a0003c0006t0002	a0001c0009t0050g0232 a0003c0003t0002g0010 a0003c0003t0002g0011 others(43): Show a0001c0009t0050g0232 a0003c0003t0002g0010 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0070 a0003c0003t0002g0180 a0003c0003t0002g0181 a0003c0003t0002g0182 a0003c0003t0002g0183 a0003c0003t0002g0186 a0003c0003t0002g0188 a0003c0003t0002g0190 a0003c0003t0002g0191 a0003c0003t0002g0195 a0003c0003t0002g0196 a0003c0003t0002g0197 a0003c0003t0002g0199 a0003c0003t0002g0200 a0003c0003t0002g0201 a0003c0003t0002g0202 a0003c0003t0002g0205 a0003c0003t0002g0207 a0003c0003t0002g0208 a0003c0003t0002g0209 a0003c0003t0002g0210 a0003c0003t0002g0212 a0003c0003t0002g0214 a0003c0003t0002g0218 a0003c0003t0002g0221 a0003c0003t0002g0222 a0003c0003t0002g0240 a0003c0003t0002g0241 a0003c0003t0002g0242 a0003c0003t0002g0243 a0003c0003t0008g0203 a0003c0003t0008g0204 a0003c0003t0008g0238 a0003c0003t0012g0174 a0003c0003t0012g0192 a0003c0003t0012g0213 a0003c0003t0031g0071 a0003c0003t0036g0198 a0003c0003t0037g0194 a0003c0003t0038g0217 a0003c0006t0002g0211 a0003c0006t0002g0215	46	177	0.2599	33	c.128 others(50): Show c.128-1915_128-1914insGCCCCTCCCCTCCCCATGCCCCTCCCCT CCCCA	DENND5B	ENSG00000170456.16	transcript	ENST00000389082.10	protein_coding	1/20			chr12	TogoVar
DENND5B_chr12_31377226_31596136	31545950	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG04184.hp1 HG02056.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0249 a0001c0001t0006g0254 a0001c0001t0006g0249 a0001c0001t0006g0254	2	33	0.0606	33	c.127 others(52): Show c.127+44755_127+44756insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	DENND5B	ENSG00000170456.16	transcript	ENST00000389082.10	protein_coding	1/20			chr12	TogoVar
DENR_chr12_122747824_122776064	122750627	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	79	0.0127	33	c.-23 others(44): Show c.-2333_-2332insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	DENR	ENSG00000139726.11	transcript	ENST00000280557.11	protein_coding		2196		chr12	TogoVar
DEPDC5_chr22_31749019_31913033	31864501	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	101	0.0099	33	c.333 others(52): Show c.3330+3068_3330+3069insTATATATATATATATATATATATATA TATATAT	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	33/42			chr22	TogoVar
DEPTOR_chr8_119868722_120055918	120002791	A A	AAATATAT others(26): Show AAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0178 a0003c0004t0002g0178	1	42	0.0238	33	c.791 others(48): Show c.791-185_791-184insATATATATATATATATATATATATATATAT ATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120030497	G G	GTTTGTTT others(26): Show GTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	29	0.0345	33	c.110 others(54): Show c.1102-19076_1102-19075insGTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DESI1_chr22_41593028_41626043	41594383	G G	GGGGTGGG others(26): Show GGGGTGGGGGAGGCGGTGGGGGGGTGGGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	304	0.0033	33	c.67 others(44): Show c.6713_*6714insGCCTCCCCCACCCCCCCACCGCCTCCCCCACCC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3644		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594383	G G	GGGTGGGG others(26): Show GGGTGGGGGAGGCGGTGGGGGGGGTGGGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	304	0.0033	33	c.67 others(44): Show c.6713_*6714insGCCTCCCCCACCCCCCCCACCGCCTCCCCCACC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3644		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGCG others(26): Show TGTGTGCGCGCGCGCGCGCTGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	35	0.0286	33	c.-28 others(44): Show c.-2845_-2844insGCGTGCGCGCGCGCAGCGCGCGCGCGCGCACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(26): Show TGTGTGTGTGCGCGCAGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	35	0.0286	33	c.-28 others(44): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCTGCGCGCACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(26): Show TGTGTGTGTGCGCGCGCGCAGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	35	0.0286	33	c.-28 others(44): Show c.-2845_-2844insGCATGCGCGCGCGCTGCGCGCGCGCACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(26): Show TGTGTGTGTGCGCGCGCGCTGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 NA18973.hp2 HG01175.hp2 NA18973.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0002 a0001c0002t0002 a0002c0003t0002	a0001c0002t0002g0002 a0002c0003t0002g0008 a0001c0002t0002g0002 a0002c0003t0002g0008	2	36	0.0556	33	c.-28 others(44): Show c.-2845_-2844insGCGTGCGCGCGCGCAGCGCGCGCGCACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(26): Show TGTGTGTGTGCGCGCGCTGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	35	0.0286	33	c.-28 others(44): Show c.-2845_-2844insGCGTGCGCGCGCGCGCAGCGCGCGCACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(26): Show TGTGTGTGTGTGCGCGCGCGCTGCGCGCGCGCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	35	0.0286	33	c.-28 others(44): Show c.-2845_-2844insGTGCGCGCGCGCAGCGCGCGCGCACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGKD_chr2_233349494_233477098	233404054	T T	TTTTACAT others(26): Show TTTTACATGTGTTATATACATGTATAATTTTGTG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01517.hp1 HG01168.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0050 a0001c0001t0002g0052	2	333	0.0060	33	c.348 others(52): Show c.348+13601_348+13633dupTGTGTTTACATGTGTTATATACATGT ATAATTT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00597.hp2 HG04228.hp1 NA18982.hp2 others(1): Show HG00597.hp2 HG04228.hp1 NA18982.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0023	a0001c0001t0003g0086 a0001c0001t0005g0225 a0001c0001t0012g0227 others(1): Show a0001c0001t0003g0086 a0001c0001t0005g0225 a0001c0001t0012g0227 a0001c0001t0023g0065	4	18	0.2222	33	c.623 others(44): Show c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	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(26): Show ATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0042 a0001c0002t0014g0042	1	16	0.0625	33	c.993 others(50): Show c.993+1672_993+1673insAAATATATATATATATATATATATATAT ATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137618151	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0063 a0001c0006t0009g0063	1	16	0.0625	33	c.993 others(50): Show c.993+1672_993+1673insAAAAATATATATATATATATATATATAT ATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137618151	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	16	0.0625	33	c.993 others(50): Show c.993+1672_993+1673insAAAAAAAAATATATATATATATATATAT ATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137618151	A A	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0044 a0001c0006t0008g0044	1	16	0.0625	33	c.993 others(50): Show c.993+1672_993+1673insAAAAAAAAAAAAATATATATATATATAT ATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DGLUCY_chr14_91109073_91230632	91202063	A A	ATAATAAT others(26): Show ATAATAATAATAATAATAATAATAATAATAATAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02809.hp2 HG02559.hp2 HG02809.hp2	a0005 a0011 a0005 a0011	a0005c0025 a0011c0024 a0005c0025 a0011c0024	a0005c0025t0012 a0011c0024t0001 a0005c0025t0012 a0011c0024t0001	a0005c0025t0012g0150 a0011c0024t0001g0144 a0005c0025t0012g0150 a0011c0024t0001g0144	2	214	0.0093	33	c.144 others(52): Show c.1444+2180_1444+2181insAATAATAATAGTAATAATAATAATAA TAATAAT	DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DGLUCY_chr14_91109073_91230632	91205754	C C	CTCTTCTT others(26): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0162 a0003c0003t0001g0162	1	18	0.0556	33	c.156 others(50): Show c.1564+939_1564+971dupTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCT	DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DGLUCY_chr14_91109073_91230632	91205754	C C	CTTTTCTT others(26): Show CTTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0063 a0012c0012t0001g0063	1	18	0.0556	33	c.156 others(50): Show c.1564+930_1564+931insTTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTT	DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DHRS4L2_chr14_23983929_24011403	24001957	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	4	0.2500	33	c.665 others(48): Show c.665+456_665+457insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	DHRS4L2	ENSG00000187630.18	transcript	ENST00000335125.11	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
DHRSX_chrX_2214506_2505976	2222236	G G	GTTTTTTA others(26): Show GTTTTTTACTGGGGTCTCATTGCATAGGTATGAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0046 a0002c0002t0002g0046	1	48	0.0208	33	c.805 others(50): Show c.805-1008_805-1007insATCATACCTATGCAATGAGACCCCAGTA AAAAA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2226825	C C	CCCAGACA others(26): Show CCCAGACAAAAAAAGAAAGAAAAAAAAGAAAACA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0035 a0002c0002t0004g0035	1	48	0.0208	33	c.805 others(50): Show c.805-5597_805-5596insTGTTTTCTTTTTTTTCTTTCTTTTTTTG TCTGG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHX15_chr4_24522475_24589554	24550094	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0327 a0001c0002t0001g0327	1	22	0.0455	33	c.108 others(52): Show c.1081-1073_1081-1072insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	5/13			chr4	TogoVar
DIAPH2_chrX_96679842_97609997	96939668	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	104	0.0096	33	c.132 others(50): Show c.1325+300_1325+301insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH3_chr13_59660583_60168928	60138818	A A	AGAGGGAA others(26): Show AGAGGGAAGAGGGAAGAGGGAAGAGGGAAGAGGG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0065 a0001c0001t0005g0065	1	169	0.0059	33	c.181 others(50): Show c.181-5830_181-5829insCCCTCTTCCCTCTTCCCTCTTCCCTCTT CCCTC	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60156939	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0055 a0002c0004t0001g0055	1	98	0.0102	33	c.180 others(50): Show c.180+6647_180+6648insAAAAAAATATATATATATATATATATAT ATATA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60156939	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19082.hp2 NA19068.hp1 NA19082.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0041 a0002c0003t0002g0042 a0002c0003t0002g0041 a0002c0003t0002g0042	2	99	0.0202	33	c.180 others(50): Show c.180+6647_180+6648insAAAAAAAAATATATATATATATATATAT ATATA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DIDO1_chr20_62872743_62931505	62929692	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0003 a0010c0016t0003	a0010c0016t0003g0166 a0010c0016t0003g0166	1	296	0.0034	33	c.-34 others(44): Show c.-3454_-3453insATATATATATATATATATTTTTTTTTTTTTTTT	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		3188		chr20	TogoVar
DIP2B_chr12_50499985_50753657	50501219	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02698.hp2 HG03195.hp2 others(1): Show HG02622.hp1 HG02698.hp2 HG03195.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0027 a0002c0005t0006 a0001c0001t0027 a0002c0005t0006	a0001c0001t0027g0097 a0002c0005t0006g0103 a0002c0005t0006g0108 others(1): Show a0001c0001t0027g0097 a0002c0005t0006g0103 a0002c0005t0006g0108 a0002c0005t0006g0109	4	58	0.0690	33	c.-39 others(44): Show c.-3922_-3921insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding		3765		chr12	TogoVar
DIP2C_chr10_269201_694668	358740	C C	CGGGGGTG others(26): Show CGGGGGTGGGAGGTGGGGGACGGGGGTGGGAGGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	74	0.0135	33	c.279 others(50): Show c.2795-804_2795-803insACCTCCCACCCCCGTCCCCCACCTCCCA CCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	22/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478371	G G	GAAGGAGA others(26): Show GAAGGAGAGGGGCGGGGCGGGGCAGGGCGGGGCA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0057 a0001c0023t0003g0057	1	80	0.0125	33	c.158 others(50): Show c.158-5823_158-5822insTGCCCCGCCCTGCCCCGCCCCGCCCCTC TCCTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	559322	T T	TGGGGAAC others(26): Show TGGGGAACGCCGGGGGAACGCCGGGGGAACGCCG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02809.hp1 HG02280.hp1 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0002 a0001c0005t0001 a0001c0005t0002	a0001c0005t0001g0005 a0001c0005t0002g0006 a0001c0005t0001g0005 a0001c0005t0002g0006	2	69	0.0290	33	c.86- others(50): Show c.86-72793_86-72792insCGGCGTTCCCCCGGCGTTCCCCCGGCGT TCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIS3L2_chr2_231956713_232342192	232333176	G G	GCCTCCTC others(26): Show GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA20300.hp2 HG02723.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0004 a0001c0009 a0002c0004	a0001c0009t0002 a0002c0004t0001 a0001c0009t0002 a0002c0004t0001	a0001c0009t0002g0194 a0002c0004t0001g0184 a0001c0009t0002g0194 a0002c0004t0001g0184	2	68	0.0294	33	c.201 others(50): Show c.2011-652_2011-620dupTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCC	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	11	0.0909	33	c.558 others(48): Show c.558+251_558+252insAAAAAAAAAAAAAAAAATATATATATATAT ATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 NA18747.hp2 others(1): Show HG01069.hp2 HG01071.hp2 NA18747.hp2 NA18982.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0004 a0001c0004t0001 a0001c0003t0004 a0001c0004t0001	a0001c0003t0004g0129 a0001c0003t0004g0162 a0001c0004t0001g0123 others(1): Show a0001c0003t0004g0129 a0001c0003t0004g0162 a0001c0004t0001g0123 a0001c0004t0001g0124	4	14	0.2857	33	c.558 others(48): Show c.558+251_558+252insAAAAAAAAAAATATATATATATATATATAT ATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02683.hp2 HG00621.hp2 HG02683.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0004 a0002c0002t0001 a0001c0003t0004 a0002c0002t0001	a0001c0003t0004g0140 a0002c0002t0001g0241 a0001c0003t0004g0140 a0002c0002t0001g0241	2	12	0.1667	33	c.558 others(48): Show c.558+251_558+252insAAAAAAAAATATATATATATATATATATAT ATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0248 a0002c0002t0002g0248	1	11	0.0909	33	c.558 others(48): Show c.558+251_558+252insAAAAAAATATATATATATATATATATATAT ATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DISP1_chr1_222810039_223010995	222936897	T T	TATATATA others(26): Show TATATATAATATATTATATATTATATAATATGTA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01496.hp2 HG03669.hp1 HG01074.hp1 HG01496.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0050 a0001c0001t0001g0142 a0001c0001t0001g0143	3	342	0.0088	33	c.-17 others(50): Show c.-17-5910_-17-5909insATATATAATATATTATATATTATATAAT ATGTA	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	2/8			chr1	TogoVar
DISP1_chr1_222810039_223010995	222969370	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02109.hp2 HG02004.hp2 HG02109.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0200 a0002c0003t0001g0065 a0001c0002t0001g0200 a0002c0003t0001g0065	2	13	0.1538	33	c.510 others(52): Show c.510-13693_510-13692insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP2_chr15_40353219_40383621	40356131	G G	GCCATGGC others(26): Show GCCATGGCCCAGGGCCCTGCGGGCCACCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00733.hp2 others(73): Show HG00423.hp2 HG00544.hp2 HG00733.hp2 HG00741.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp2 HG02132.hp2 HG02148.hp2 HG02258.hp1 HG02293.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18950.hp1 NA18951.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18984.hp2 NA18992.hp2 NA18995.hp1 NA19002.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19068.hp2 NA19080.hp2 NA19087.hp2 NA19088.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0007 a0011 a0016 a0018 a0019 a0023 a0026 a0028	a0001c0002 a0001c0003 a0001c0006 others(12): Show a0001c0002 a0001c0003 a0001c0006 a0001c0032 a0002c0001 a0003c0004 a0003c0017 a0007c0012 a0011c0041 a0016c0038 a0018c0042 a0019c0039 a0023c0040 a0026c0037 a0028c0044	a0001c0002t0002 a0001c0003t0007 a0001c0003t0019 others(44): Show a0001c0002t0002 a0001c0003t0007 a0001c0003t0019 a0001c0003t0028 a0001c0003t0050 a0001c0003t0051 a0001c0003t0148 a0001c0003t0153 a0001c0003t0154 a0001c0003t0155 a0001c0003t0156 a0001c0003t0157 a0001c0003t0158 a0001c0003t0159 a0001c0006t0014 a0001c0006t0036 a0001c0006t0055 a0001c0006t0056 a0001c0006t0084 a0001c0032t0063 a0002c0001t0065 a0003c0004t0005 a0003c0004t0011 a0003c0004t0022 a0003c0004t0032 a0003c0004t0042 a0003c0004t0061 a0003c0004t0062 a0003c0004t0067 a0003c0004t0075 a0003c0004t0076 a0003c0004t0077 a0003c0004t0102 a0003c0004t0103 a0003c0004t0104 a0003c0004t0105 a0003c0004t0160 a0003c0017t0005 a0007c0012t0086 a0007c0012t0087 a0011c0041t0005 a0016c0038t0022 a0018c0042t0007 a0019c0039t0069 a0023c0040t0033 a0026c0037t0011 a0028c0044t0050	a0001c0002t0002g0001 a0001c0003t0007g0003 a0001c0003t0019g0003 others(48): Show a0001c0002t0002g0001 a0001c0003t0007g0003 a0001c0003t0019g0003 a0001c0003t0028g0003 a0001c0003t0050g0003 a0001c0003t0051g0003 a0001c0003t0148g0003 a0001c0003t0153g0031 a0001c0003t0154g0013 a0001c0003t0155g0003 a0001c0003t0156g0003 a0001c0003t0157g0003 a0001c0003t0158g0003 a0001c0003t0159g0004 a0001c0006t0014g0008 a0001c0006t0036g0020 a0001c0006t0055g0008 a0001c0006t0056g0008 a0001c0006t0084g0010 a0001c0032t0063g0058 a0002c0001t0065g0062 a0003c0004t0005g0004 a0003c0004t0011g0004 a0003c0004t0011g0011 a0003c0004t0011g0015 a0003c0004t0022g0004 a0003c0004t0022g0026 a0003c0004t0032g0004 a0003c0004t0042g0017 a0003c0004t0042g0018 a0003c0004t0061g0004 a0003c0004t0062g0004 a0003c0004t0067g0004 a0003c0004t0075g0004 a0003c0004t0076g0004 a0003c0004t0077g0011 a0003c0004t0102g0004 a0003c0004t0103g0018 a0003c0004t0104g0017 a0003c0004t0105g0029 a0003c0004t0160g0004 a0003c0017t0005g0004 a0007c0012t0086g0059 a0007c0012t0087g0010 a0011c0041t0005g0004 a0016c0038t0022g0004 a0018c0042t0007g0003 a0019c0039t0069g0004 a0023c0040t0033g0004 a0026c0037t0011g0004 a0028c0044t0050g0003	76	394	0.1929	33	c.-21 others(44): Show c.-2191_-2190insCCATGGCCCAGGGCCCTGCGGGCCACCCCCCCA	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding		2087		chr15	TogoVar
DISP2_chr15_40353219_40383621	40356138	C C	CCCAGGGC others(26): Show CCCAGGGCCCTGCGGGCCACCCCCCCACCATGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18970.hp2 NA18990.hp2 others(2): Show NA18949.hp2 NA18970.hp2 NA18990.hp2 NA19054.hp1 NA19088.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0033 a0003c0004t0070 others(1): Show a0003c0004t0005 a0003c0004t0033 a0003c0004t0070 a0003c0004t0071	a0003c0004t0005g0004 a0003c0004t0005g0015 a0003c0004t0033g0004 others(2): Show a0003c0004t0005g0004 a0003c0004t0005g0015 a0003c0004t0033g0004 a0003c0004t0070g0011 a0003c0004t0071g0004	5	394	0.0127	33	c.-21 others(44): Show c.-2184_-2183insCCAGGGCCCTGCGGGCCACCCCCCCACCATGGT	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding		2080		chr15	TogoVar
DISP3_chr1_11474155_11542551	11522640	G G	GCCCAGCC others(26): Show GCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0293 a0001c0005t0004g0293	1	292	0.0034	33	c.236 others(52): Show c.2363-1292_2363-1260dupGGCCCAGCCAGAGCCCAGCCAGGACC CAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522684	G G	GCCCAGCC others(26): Show GCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG02132.hp1 HG00423.hp1 HG00621.hp2 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0178 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0178	3	255	0.0118	33	c.236 others(52): Show c.2363-1249_2363-1248insAGCCCAGCCAGAGCCCAGCCAGGACC CAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522684	G G	GCCCAGCC others(26): Show GCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0180 a0002c0002t0002g0180	1	253	0.0040	33	c.236 others(52): Show c.2363-1238_2363-1237insAGCCCAGCCAGGACCCAGCCAGGGCC CAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522959	A A	ACCCAGCC others(26): Show ACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0007 a0007	a0007c0054 a0007c0054	a0007c0054t0011 a0007c0054t0011	a0007c0054t0011g0186 a0007c0054t0011g0186	1	348	0.0029	33	c.236 others(50): Show c.2363-974_2363-973insAGCCCAGCCAGGACCCAGCCAGAGCCCA GCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar

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