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
DHRSX_chrX_2214506_2505976	2270973	G G	GACCAATC others(17): Show GACCAATCAGCACTCTGTAAAATGC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02004.hp2 HG02071.hp1 others(3): Show HG01496.hp1 HG02004.hp2 HG02071.hp1 HG02293.hp2 HG02698.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0003c0016 a0002c0002 a0003c0003 a0003c0016	a0002c0002t0002 a0003c0003t0002 a0003c0016t0002 a0002c0002t0002 a0003c0003t0002 a0003c0016t0002	a0002c0002t0002g0016 a0003c0003t0002g0013 a0003c0003t0002g0014 others(3): Show a0002c0002t0002g0016 a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0018 a0003c0003t0002g0043 a0003c0016t0002g0040	6	50	0.1200	24	c.389 others(41): Show c.389-4027_389-4026insGCATTTTACAGAGTGCTGATTGGT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2298614	A A	ACACACAC others(17): Show ACACACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0027 a0001c0001t0012g0027	1	50	0.0200	24	c.287 others(41): Show c.287-7035_287-7012dupCGTGTGTGTGTGTGTGTGTGTGTG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2304196	G G	GATGGATG others(17): Show GATGGATGGATGGATGGATGGATAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0027 a0001c0001t0012g0027	1	50	0.0200	24	c.287 others(43): Show c.287-12594_287-12593insTTATCCATCCATCCATCCATCCAT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2304315	G G	GGATGGAT others(17): Show GGATGGATGGATGGATGGATGAACT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02922.hp1 HG02886.hp1 HG02922.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0013 a0001c0001 a0011c0013	a0001c0001t0012 a0011c0013t0015 a0001c0001t0012 a0011c0013t0015	a0001c0001t0012g0027 a0011c0013t0015g0011 a0001c0001t0012g0027 a0011c0013t0015g0011	2	50	0.0400	24	c.287 others(43): Show c.287-12736_287-12713dupAGTTCATCCATCCATCCATCCATC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHTKD1_chr10_12063954_12128221	12100287	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp2 NA19082.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0260 a0001c0001t0008g0127 a0001c0001t0001g0260 a0001c0001t0008g0127	2	374	0.0054	24	c.175 others(39): Show c.1756+39_1756+40insTTTTTTTTTTTTTTTTTTTTTTTT	DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
DHX15_chr4_24522475_24589554	24550094	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	374	0.0027	24	c.108 others(43): Show c.1081-1096_1081-1073dupTTTTTTTTTTTTTTTTTTTTTTTT	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	5/13			chr4	TogoVar
DHX15_chr4_24522475_24589554	24574205	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01168.hp1 HG01169.hp2 others(1): Show HG00438.hp1 HG01168.hp1 HG01169.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0274 others(1): Show a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0274 a0001c0001t0001g0322	4	374	0.0107	24	c.507 others(41): Show c.507+2037_507+2038insTTTTTTTTTTTTTTTTTTTTTTTT	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	2/13			chr4	TogoVar
DHX36_chr3_154267546_154329487	154310827	A A	ATATATAC others(17): Show ATATATACATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0185 a0001c0004t0008g0185	1	366	0.0027	24	c.642 others(39): Show c.642+808_642+809insCATATATATATATATATGTATATA	DHX36	ENSG00000174953.14	transcript	ENST00000496811.6	protein_coding	4/24			chr3	TogoVar
DHX37_chr12_124941826_124994131	124983418	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	370	0.0027	24	c.277 others(39): Show c.277-819_277-796dupGTGTGTGTGTGTGTGTGTGTGTGT	DHX37	ENSG00000150990.9	transcript	ENST00000308736.7	protein_coding	2/26			chr12	TogoVar
DHX57_chr2_38792729_38880934	38837611	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0099 a0002c0001t0001g0099	1	284	0.0035	24	c.254 others(41): Show c.2542+219_2542+220insTTTTTTTTTTTTTTTTTTTTTTTT	DHX57	ENSG00000163214.21	transcript	ENST00000457308.6	protein_coding	13/23			chr2	TogoVar
DHX9_chr1_182834347_182892982	182868520	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0214 a0001c0004t0001g0214	1	276	0.0036	24	c.155 others(43): Show c.1557+1491_1557+1492insTTTTTTTTTTTTTTTTTTTTTTTT	DHX9	ENSG00000135829.17	transcript	ENST00000367549.4	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIAPH1_chr5_141510021_141624000	141591695	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02451.hp1 others(4): Show HG01243.hp2 HG01884.hp2 HG02451.hp1 HG02895.hp2 HG02897.hp2 HG06807.hp2 NA18983.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0004c0006t0001	a0001c0001t0001g0313 a0001c0001t0002g0138 a0001c0001t0002g0139 others(4): Show a0001c0001t0001g0313 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0166 a0001c0001t0003g0140 a0001c0002t0003g0298 a0004c0006t0001g0123	7	336	0.0208	24	c.118 others(41): Show c.118-3469_118-3446dupATATATATATATATATATATATAT	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH2_chrX_96679842_97609997	96751647	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTGTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01928.hp1 HG01943.hp1 others(10): Show HG00642.hp1 HG01928.hp1 HG01943.hp1 HG02055.hp1 HG02135.hp1 HG03942.hp1 HG04115.hp1 NA18967.hp1 NA18984.hp1 NA18990.hp1 NA19005.hp1 NA19066.hp1 NA19082.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0003c0006t0001	a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 others(10): Show a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0002g0119 a0001c0001t0002g0124 a0001c0001t0002g0128 a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0016g0125 a0003c0006t0001g0130	13	147	0.0884	24	c.343 others(41): Show c.343-6503_343-6502insTTTTTTTTTTTTTTTTTGTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	3/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96836717	A A	ATATATAT others(17): Show ATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0141 a0001c0001t0013g0141	1	147	0.0068	24	c.448 others(43): Show c.448-44861_448-44860insATATATATATATTTTTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96939668	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03710.hp1 HG03130.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0034 a0001c0001t0004g0147 a0001c0001t0002g0034 a0001c0001t0004g0147	2	147	0.0136	24	c.132 others(41): Show c.1325+300_1325+301insTTTTTTTTTTTTTTTTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96962340	T T	TATATATA others(17): Show TATATATATACACATATATATATAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02572.hp1 HG01081.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0087 a0001c0001t0018g0083 a0001c0001t0001g0087 a0001c0001t0018g0083	2	147	0.0136	24	c.193 others(43): Show c.1936-2744_1936-2743insCACATATATATATACATATATATA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	16/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96962496	C C	CATATATA others(17): Show CATATATATATACACATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0007 a0001c0009t0001g0007	1	147	0.0068	24	c.193 others(43): Show c.1936-2586_1936-2585insCACATATATATATATATATATATA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	16/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97047542	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0143 a0001c0001t0012g0143	1	147	0.0068	24	c.205 others(45): Show c.2051-25395_2051-25372dupTTTTTTTTTTTTTTTTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	17/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97185329	A A	ATATATAT others(17): Show ATATATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02809.hp2 others(5): Show HG01891.hp1 HG02280.hp2 HG02809.hp2 HG02895.hp1 HG02922.hp2 HG03540.hp1 NA19009.hp1 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0004c0010t0001	a0001c0001t0001g0111 a0001c0001t0001g0138 a0001c0001t0002g0123 others(5): Show a0001c0001t0001g0111 a0001c0001t0001g0138 a0001c0001t0002g0123 a0001c0001t0003g0006 a0001c0001t0003g0084 a0001c0001t0011g0001 a0001c0001t0011g0002 a0004c0010t0001g0016	8	147	0.0544	24	c.271 others(45): Show c.2719+43537_2719+43560dupATATATATATGTATATATATATGT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97185329	A A	ATATATAT others(17): Show ATATATATATATGTGTATATATATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0086 a0001c0001t0017g0086	1	147	0.0068	24	c.271 others(45): Show c.2719+43548_2719+43549insGTATATATATGTATATATATATGT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97185424	T T	TGTGTGTG others(17): Show TGTGTGTGTATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	147	0.0068	24	c.271 others(45): Show c.2719+43630_2719+43631insGTGTGTGTATATATATATACACAC	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26			chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97185469	A A	ATATGTGT others(17): Show ATATGTGTATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	147	0.0068	24	c.271 others(45): Show c.2719+43677_2719+43678insTGTGTATATATATATGTGTGTGTA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97300931	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	147	0.0068	24	c.284 others(45): Show c.2845-47174_2845-47151dupAAAAAAAAAAAAAAAAAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97588996	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18995.hp1 NA18982.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0096 a0001c0001t0002g0079 a0001c0001t0001g0096 a0001c0001t0002g0079	2	147	0.0136	24	c.324 others(45): Show c.3242-10249_3242-10226dupTATATATATATATATATATATATA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	26/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH3_chr13_59660583_60168928	59756448	G G	GGAAGGAA others(17): Show GGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01981.hp2 HG01993.hp2 others(5): Show HG01952.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02132.hp2 HG02738.hp2 NA18990.hp2 NA19064.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0002c0004t0002 a0001c0001t0001 a0002c0004t0001 a0002c0004t0002	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(5): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0002c0004t0001g0040 a0002c0004t0001g0042 a0002c0004t0001g0051 a0002c0004t0001g0057 a0002c0004t0002g0045	8	208	0.0385	24	c.331 others(45): Show c.3319+17740_3319+17741insTTTCCTTCCTTCCTTCCTTCCTTC	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	27/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60125394	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0156 a0002c0003t0002g0156	1	208	0.0048	24	c.213 others(41): Show c.213+7539_213+7562dupAAAAAAAAAAAAAAAAAAAAAAAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	2/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60156918	C C	CACATATA others(17): Show CACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	208	0.0048	24	c.180 others(41): Show c.180+6668_180+6669insATATATATATATATATATATATGT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DIDO1_chr20_62872743_62931505	62875224	T T	TCACCCCC others(17): Show TCACCCCCACCCCCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02717.hp2 HG02976.hp1 HG02451.hp2 HG02717.hp2 HG02976.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0026 a0003c0006t0001g0027 a0003c0006t0001g0261 a0003c0006t0001g0026 a0003c0006t0001g0027 a0003c0006t0001g0261	3	320	0.0094	24	c.40 others(35): Show c.4008_*4009insGGGGTGGGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2518		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875242	C C	CCACCCCC others(17): Show CCACCCCCACCCCCACCCGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01361.hp1 HG01346.hp2 HG01361.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0141 a0002c0011t0001g0142 a0002c0011t0001g0141 a0002c0011t0001g0142	2	320	0.0063	24	c.39 others(35): Show c.3990_*3991insCGGGTGCGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2500		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875242	C C	CCACCCCC others(17): Show CCACCCCCACCCGCACCCGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0032 a0032	a0032c0039 a0032c0039	a0032c0039t0006 a0032c0039t0006	a0032c0039t0006g0048 a0032c0039t0006g0048	1	320	0.0031	24	c.39 others(35): Show c.3990_*3991insCGGGTGCGGGTGCGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2500		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875350	T T	TCACCCGC others(17): Show TCACCCGCACCCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01243.hp1 HG01255.hp1 others(4): Show HG01069.hp1 HG01243.hp1 HG01255.hp1 HG02622.hp2 HG02630.hp2 HG03130.hp2 NA19043.hp1	a0005 a0012 a0041 a0005 a0012 a0041	a0005c0005 a0012c0031 a0041c0064 a0005c0005 a0012c0031 a0041c0064	a0005c0005t0002 a0012c0031t0002 a0041c0064t0002 a0005c0005t0002 a0012c0031t0002 a0041c0064t0002	a0005c0005t0002g0005 a0005c0005t0002g0126 a0005c0005t0002g0128 others(2): Show a0005c0005t0002g0005 a0005c0005t0002g0126 a0005c0005t0002g0128 a0012c0031t0002g0045 a0041c0064t0002g0125	7	320	0.0219	24	c.38 others(35): Show c.3882_*3883insGGGGTGGGGGTGCGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2392		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875362	C C	CCACCCCC others(17): Show CCACCCCCACCCCCACCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0005 a0006c0008t0005	a0006c0008t0005g0120 a0006c0008t0005g0120	1	320	0.0031	24	c.38 others(35): Show c.3870_*3871insCGGGTGAGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2380		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62929692	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	320	0.0031	24	c.-34 others(35): Show c.-3454_-3453insATATATATATATATATATATATAT	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		3188		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62929693	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00597.hp2 others(18): Show HG00099.hp1 HG00408.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG01243.hp2 HG02027.hp1 HG02258.hp1 HG02451.hp2 HG02559.hp1 HG02717.hp2 HG03041.hp1 HG03139.hp2 HG03239.hp1 HG04204.hp1 NA18962.hp1 NA18965.hp1 NA19030.hp1 NA19066.hp2 NA19068.hp2 NA20300.hp1	a0001 a0003 a0013 others(2): Show a0001 a0003 a0013 a0026 a0040	a0001c0001 a0003c0003 a0003c0006 others(3): Show a0001c0001 a0003c0003 a0003c0006 a0013c0018 a0026c0036 a0040c0035	a0001c0001t0001 a0001c0001t0008 a0003c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0008 a0003c0003t0001 a0003c0006t0001 a0013c0018t0001 a0026c0036t0007 a0040c0035t0001	a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0001g0066 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0008g0073 a0003c0003t0001g0020 a0003c0003t0001g0024 a0003c0003t0001g0253 a0003c0003t0001g0255 a0003c0003t0001g0256 a0003c0003t0001g0258 a0003c0003t0001g0260 a0003c0006t0001g0026 a0003c0006t0001g0027 a0013c0018t0001g0095 a0026c0036t0007g0030 a0040c0035t0001g0088	21	320	0.0656	24	c.-34 others(35): Show c.-3455_-3454insTATATATATATATATATATATATA	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		3189		chr20	TogoVar
DIMT1_chr5_62382254_62408905	62396139	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00621.hp2 others(29): Show HG00140.hp1 HG00408.hp1 HG00621.hp2 HG00738.hp2 HG01081.hp2 HG01952.hp2 HG02074.hp1 HG02109.hp2 HG02293.hp1 HG02615.hp2 HG02895.hp1 HG03017.hp1 HG03834.hp1 HG04199.hp1 NA18747.hp2 NA18941.hp1 NA18962.hp1 NA18966.hp1 NA18974.hp1 NA18987.hp2 NA19002.hp1 NA19004.hp1 NA19009.hp2 NA19010.hp2 NA19056.hp2 NA19062.hp1 NA19070.hp1 NA19070.hp2 NA19084.hp2 NA19090.hp1 NA19091.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0061 others(18): Show a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0100 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0120 a0001c0001t0002g0134 a0001c0001t0002g0190 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0013g0214	32	404	0.0792	24	c.447 others(41): Show c.447-1533_447-1532insAAAAAAAAAAAAAAAAAAAAAAAA	DIMT1	ENSG00000086189.11	transcript	ENST00000199320.9	protein_coding	6/11			chr5	TogoVar
DIO1_chr1_53889187_53916086	53891230	G G	GCTGAGTT others(17): Show GCTGAGTTATCTAGTGGCTGTGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	452	0.0022	24	c.-29 others(35): Show c.-2981_-2980insCTGAGTTATCTAGTGGCTGTGGCA	DIO1	ENSG00000211452.12	transcript	ENST00000361921.8	protein_coding		2956		chr1	TogoVar
DIP2A_chr21_46453891_46575015	46477543	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0280 a0001c0005t0004g0280	1	374	0.0027	24	c.92- others(39): Show c.92-7212_92-7189dupGTGTGTGTGTGTGTGTGTGTGTGT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46477543	T T	TTTTGTGT others(17): Show TTTTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp2 HG02622.hp1 others(7): Show HG02257.hp1 HG02257.hp2 HG02622.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG03130.hp1 NA18906.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0013 a0001c0005 a0001c0006 a0001c0013	a0001c0005t0004 a0001c0006t0001 a0001c0006t0007 others(2): Show a0001c0005t0004 a0001c0006t0001 a0001c0006t0007 a0001c0006t0012 a0001c0013t0015	a0001c0005t0004g0275 a0001c0005t0004g0276 a0001c0005t0004g0277 others(7): Show a0001c0005t0004g0275 a0001c0005t0004g0276 a0001c0005t0004g0277 a0001c0005t0004g0278 a0001c0005t0004g0283 a0001c0006t0001g0180 a0001c0006t0007g0171 a0001c0006t0012g0152 a0001c0013t0015g0148 a0001c0013t0015g0172	10	374	0.0267	24	c.92- others(39): Show c.92-7213_92-7212insTTGTGTGTGTGTGTGTGTGTGTGT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46477543	T T	TTTTTTGT others(17): Show TTTTTTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0026 a0001c0031t0026	a0001c0031t0026g0165 a0001c0031t0026g0165	1	374	0.0027	24	c.92- others(39): Show c.92-7213_92-7212insTTTTGTGTGTGTGTGTGTGTGTGT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2B_chr12_50499985_50753657	50501219	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02280.hp2 HG03041.hp1 others(3): Show HG02083.hp1 HG02280.hp2 HG03041.hp1 HG03471.hp2 NA18953.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0044 a0001c0002t0003 others(1): Show a0001c0001t0008 a0001c0001t0044 a0001c0002t0003 a0001c0002t0004	a0001c0001t0008g0181 a0001c0001t0044g0270 a0001c0002t0003g0254 others(3): Show a0001c0001t0008g0181 a0001c0001t0044g0270 a0001c0002t0003g0254 a0001c0002t0003g0266 a0001c0002t0004g0211 a0001c0002t0004g0272	6	284	0.0211	24	c.-39 others(35): Show c.-3922_-3921insAAAAAAAAAAAAAAAAAAAAAAAA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding		3765		chr12	TogoVar
DIP2B_chr12_50499985_50753657	50505001	T T	TGGCGGCG others(17): Show TGGCGGCGGCGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00741.hp2 HG01891.hp2 HG02698.hp2 others(1): Show HG00741.hp2 HG01891.hp2 HG02698.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0027 a0001c0001t0010 a0001c0001t0027	a0001c0001t0010g0089 a0001c0001t0010g0090 a0001c0001t0010g0101 others(1): Show a0001c0001t0010g0089 a0001c0001t0010g0090 a0001c0001t0010g0101 a0001c0001t0027g0098	4	284	0.0141	24	c.-11 others(33): Show c.-117_-116insCGGCGGCGGCGGCGGCGGCGGCGG	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/38	116	INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593691	T T	TCTCCTCT others(17): Show TCTCCTCTCCTCTCCCCTCCTCTCC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0053 a0001c0003t0002g0053	1	284	0.0035	24	c.101 others(43): Show c.101-32285_101-32284insCTCCTCTCCTCTCCCCTCCTCTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37			chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593799	C C	CCTCCCCT others(17): Show CCTCCCCTCCCCTCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0270 a0001c0001t0044g0270	1	284	0.0035	24	c.101 others(43): Show c.101-32164_101-32163insTCCCCTCCCCTCTCCCCTCCCCTC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593865	C C	CCCTCCCC others(17): Show CCCTCCCCTCTCCTCCCCTCCCTCT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	284	0.0035	24	c.101 others(43): Show c.101-32092_101-32091insCCTCTCCTCCCCTCTCCTCCCCTC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593889	C C	CCCCTCTC others(17): Show CCCCTCTCCTCCCCTCCCCTCTCCT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0250 a0001c0002t0004g0250	1	284	0.0035	24	c.101 others(43): Show c.101-32082_101-32081insTCCTCCCCTCCCCTCTCCTCCCTC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50716958	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0269 a0001c0001t0037g0269	1	284	0.0035	24	c.285 others(43): Show c.2852-1728_2852-1727insTTTTTTTTTTTTTTTTTTTTTTTT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	23/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	337049	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	88	0.0114	24	c.358 others(43): Show c.3584+4126_3584+4149dupACACACACACACACACACACACAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	29/36			chr10	TogoVar
DIP2C_chr10_269201_694668	414739	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0065 a0001c0003t0002g0065	1	88	0.0114	24	c.860 others(39): Show c.860-630_860-629insTATATATATATATATATATATATA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	7/36			chr10	TogoVar
DIP2C_chr10_269201_694668	414739	G G	GTGTGTAT others(17): Show GTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0039 a0001c0005t0003g0039	1	88	0.0114	24	c.860 others(39): Show c.860-630_860-629insTATATATATATATATATATACACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	7/36			chr10	TogoVar
DIP2C_chr10_269201_694668	429293	T T	TCCCCCCC others(17): Show TCCCCCCCCGGGCCCTGGCTGCCTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0037 a0001c0003t0002g0037	1	88	0.0114	24	c.395 others(41): Show c.395-6261_395-6260insGAGGCAGCCAGGGCCCGGGGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar

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