Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02056.hp2 HG02615.hp2 others(1): Show HG02040.hp1 HG02056.hp2 HG02615.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	38	0.1053	34	c.-28 others(45): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCGCACACACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGCGCGCGCGCGCACGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	35	0.0286	34	c.-28 others(45): Show c.-2845_-2844insGCGCGTGCGCGCGCGCGCACACACACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	35	0.0286	34	c.-28 others(45): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCACACACACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG02129.hp2 NA18969.hp1 others(5): Show HG00323.hp1 HG02129.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0002g0003 a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0002g0003	8	42	0.1905	34	c.-28 others(45): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCACACACACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6_chr22_18901320_18917088	18911327	G G	GGCTCAGA others(27): Show GGCTCAGATTCCGAGTGGCCCTGCTGGGGCCAGAA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	15	0.0667	34	c.514 others(49): Show c.514-185_514-184insCCAGAAGCTCAGATTCCGAGTGGCCCTGCT GGGG	DGCR6	ENSG00000183628.14	transcript	ENST00000331444.12	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
DGCR6_chr22_18901320_18917088	18911327	G G	GGCTCAGA others(27): Show GGCTCAGATTCCGAGTGGCCCTGCTGGGGGCAGAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(391): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0003 a0001c0006 others(12): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008 a0001c0011 a0001c0013 a0001c0015 a0001c0016 a0002c0002 a0002c0010 a0003c0004 a0004c0007 a0005c0009 a0006c0014 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0003t0001 a0001c0003t0005 a0001c0003t0006 a0001c0006t0001 a0001c0008t0008 a0001c0011t0001 a0001c0013t0001 a0001c0015t0001 a0001c0016t0001 a0002c0002t0001 a0002c0002t0007 a0002c0010t0001 a0003c0004t0001 a0003c0004t0004 a0004c0007t0002 a0005c0009t0001 a0006c0014t0001 a0007c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(86): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0040 a0001c0001t0002g0081 a0001c0001t0010g0004 a0001c0003t0001g0031 a0001c0003t0005g0020 a0001c0003t0005g0059 a0001c0003t0006g0042 a0001c0003t0006g0045 a0001c0003t0006g0057 a0001c0003t0006g0058 a0001c0006t0001g0001 a0001c0006t0001g0071 a0001c0008t0008g0032 a0001c0011t0001g0005 a0001c0013t0001g0005 a0001c0015t0001g0001 a0001c0016t0001g0007 a0002c0002t0001g0006 a0002c0002t0001g0076 a0002c0002t0007g0006 a0002c0010t0001g0078 a0003c0004t0001g0033 a0003c0004t0004g0009 a0004c0007t0002g0012 a0005c0009t0001g0072 a0005c0009t0001g0074 a0006c0014t0001g0001 a0007c0012t0001g0052	394	408	0.9657	34	c.514 others(49): Show c.514-180_514-179insAGCTCAGATTCCGAGTGGCCCTGCTGGGGG CAGA	DGCR6	ENSG00000183628.14	transcript	ENST00000331444.12	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
DGKB_chr7_14140049_14907751	14418317	A A	ATATATAT others(27): Show ATATATATATACACACACATATTCACATATATATG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0123 a0001c0001t0023g0123	1	146	0.0068	34	c.183 others(55): Show c.1835+59843_1835+59844insCATATATATGTGAATATGTGTGTG TATATATATA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14418377	A A	ATATACAC others(27): Show ATATACACACACACATATATTCACATATATATGTG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0006 a0002c0007t0006	a0002c0007t0006g0030 a0002c0007t0006g0030	1	106	0.0094	34	c.183 others(55): Show c.1835+59783_1835+59784insCACATATATATGTGAATATATGTG TGTGTGTATA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14418379	A A	ATACACAC others(27): Show ATACACACACACATATATTCACATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0032 a0001c0015t0032	a0001c0015t0032g0019 a0001c0015t0032g0019	1	146	0.0068	34	c.183 others(55): Show c.1835+59781_1835+59782insCACACATATATATGTGAATATATG TGTGTGTGTA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14747775	G G	GCGCGCGC others(27): Show GCGCGCGCGCGCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0080 a0001c0006t0008g0080	1	59	0.0169	34	c.168 others(51): Show c.168+6152_168+6153insTGTGTGTGTGTGTGTGTGTGTGTGCGCG CGCGCG	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	4/25			chr7	TogoVar
DGKD_chr2_233349494_233477098	233463375	A A	ACATCTCC others(27): Show ACATCTCCTCACTCCACGCATCTCCTCACTCCACG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp2 HG01258.hp2 others(1): Show HG00280.hp1 HG00741.hp2 HG01258.hp2 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0020 a0001c0001t0005 a0001c0001t0020	a0001c0001t0005g0031 a0001c0001t0005g0045 a0001c0001t0020g0030 others(1): Show a0001c0001t0005g0031 a0001c0001t0005g0045 a0001c0001t0020g0030 a0001c0001t0020g0032	4	329	0.0122	34	c.318 others(51): Show c.3186+656_3186+657insGCATCTCCTCACTCCACGCATCTCCTCA CTCCAC	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233463392	A A	ACATCTCC others(27): Show ACATCTCCTCACTCCACGCATCTCCTCACTCCACG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00621.hp2 others(20): Show HG00140.hp2 HG00323.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG02027.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02257.hp2 HG02523.hp1 HG02622.hp1 HG02976.hp1 HG03139.hp2 HG03209.hp1 HG03579.hp1 HG03688.hp1 NA18747.hp2 NA18940.hp2 NA18951.hp1 NA18983.hp1 NA19075.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0024 others(6): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0024 a0001c0003t0005 a0001c0003t0007 a0001c0003t0019 a0001c0003t0036 a0001c0003t0037 a0001c0003t0038	a0001c0001t0002g0034 a0001c0001t0005g0029 a0001c0001t0005g0242 others(20): Show a0001c0001t0002g0034 a0001c0001t0005g0029 a0001c0001t0005g0242 a0001c0001t0024g0077 a0001c0003t0005g0149 a0001c0003t0005g0157 a0001c0003t0005g0160 a0001c0003t0005g0165 a0001c0003t0005g0169 a0001c0003t0007g0080 a0001c0003t0007g0081 a0001c0003t0007g0082 a0001c0003t0007g0083 a0001c0003t0007g0084 a0001c0003t0007g0156 a0001c0003t0007g0159 a0001c0003t0007g0163 a0001c0003t0007g0269 a0001c0003t0019g0079 a0001c0003t0019g0086 a0001c0003t0036g0131 a0001c0003t0037g0231 a0001c0003t0038g0152	23	295	0.0780	34	c.318 others(51): Show c.3186+695_3187-701dupCTCCTCACTCCACGCATCTCCTCACTCC ACGCAT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233463669	T T	TCCTCACT others(27): Show TCCTCACTCCACGCATCTCCTCACTCCACGCATCA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02083.hp1 HG02129.hp2 others(2): Show HG00673.hp1 HG02083.hp1 HG02129.hp2 NA18951.hp1 NA18983.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0019 a0001c0003t0007 a0001c0003t0019	a0001c0003t0007g0081 a0001c0003t0007g0082 a0001c0003t0007g0083 others(2): Show a0001c0003t0007g0081 a0001c0003t0007g0082 a0001c0003t0007g0083 a0001c0003t0007g0269 a0001c0003t0019g0079	5	330	0.0152	34	c.318 others(51): Show c.3187-479_3187-478insTCCTCACTCCACGCATCACCTCACTCCA CGCATC	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKG_chr3_186142201_186367234	186223011	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp2 HG00735.hp2 others(11): Show HG00609.hp1 HG00642.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp1 HG01361.hp1 HG01975.hp1 HG01975.hp2 HG02165.hp2 HG02273.hp2 HG03239.hp1 HG06807.hp2 NA19005.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0003 a0002c0001 others(3): Show a0001c0002 a0001c0003 a0002c0001 a0003c0004 a0003c0006 a0004c0007	a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 others(9): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0014 a0001c0003t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0014 a0003c0004t0004 a0003c0004t0018 a0003c0006t0001 a0004c0007t0006	a0001c0002t0001g0074 a0001c0002t0001g0088 a0001c0002t0005g0062 others(11): Show a0001c0002t0001g0074 a0001c0002t0001g0088 a0001c0002t0005g0062 a0001c0002t0008g0214 a0001c0002t0014g0213 a0001c0003t0001g0026 a0002c0001t0001g0077 a0002c0001t0001g0104 a0002c0001t0002g0078 a0002c0001t0014g0189 a0003c0004t0004g0029 a0003c0004t0018g0114 a0003c0006t0001g0127 a0004c0007t0006g0161	14	28	0.5000	34	c.182 others(55): Show c.1827-11127_1827-11126insTATATATATATATATATATATATA TATATATATA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	20/24			chr3	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02572.hp1 HG02818.hp1 HG02896.hp1 others(4): Show HG02572.hp1 HG02818.hp1 HG02896.hp1 NA19009.hp2 NA19012.hp1 NA19054.hp1 NA19056.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0003c0011	a0001c0001t0003 a0001c0001t0005 a0001c0001t0039 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0039 a0001c0002t0093 a0001c0008t0004 a0003c0011t0039	a0001c0001t0003g0085 a0001c0001t0003g0123 a0001c0001t0005g0223 others(4): Show a0001c0001t0003g0085 a0001c0001t0003g0123 a0001c0001t0005g0223 a0001c0001t0039g0230 a0001c0002t0093g0032 a0001c0008t0004g0132 a0003c0011t0039g0256	7	21	0.3333	34	c.623 others(45): Show c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42230700	A A	ATACACAT others(27): Show ATACACATATACATTTATATGTGTATATATATACC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0066 a0001c0002t0066	a0001c0002t0066g0176 a0001c0002t0066g0176	1	314	0.0032	34	c.15 others(45): Show c.1517_*1550dupCATATACATTTATATGTGTATATATATACCTACA	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	30/30	1551	INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKI_chr7_137376037_137851974	137618151	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01099.hp1 others(2): Show HG00642.hp1 HG00642.hp2 HG01099.hp1 HG02257.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0003t0004 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0004 a0001c0005t0004 a0001c0005t0029	a0001c0001t0001g0051 a0001c0001t0004g0023 a0001c0003t0004g0014 others(2): Show a0001c0001t0001g0051 a0001c0001t0004g0023 a0001c0003t0004g0014 a0001c0005t0004g0056 a0001c0005t0029g0029	5	20	0.2500	34	c.993 others(51): Show c.993+1672_993+1673insAAAATATATATATATATATATATATATA TATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137618151	A A	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0009 a0001c0023t0009	a0001c0023t0009g0015 a0001c0023t0009g0015	1	16	0.0625	34	c.993 others(51): Show c.993+1672_993+1673insAAAAAAAAAAAAAATATATATATATATA TATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DHH_chr12_49081656_49099801	49086712	T T	TACCTAAC others(27): Show TACCTAACAGTCACGAGAAAAAAGAGAAAAAAAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0092 a0001c0001t0032g0092	1	422	0.0024	34	c.31 others(45): Show c.3146_*3147insTCTTTTTTTCTCTTTTTTCTCGTGACTGTTAGGT	DHH	ENSG00000139549.4	transcript	ENST00000649637.2	protein_coding	3/3	3146		chr12	TogoVar
DHODH_chr16_72003744_72032659	72020333	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG03516.hp2 others(4): Show HG02895.hp1 HG02896.hp1 HG03516.hp2 HG03540.hp1 NA18906.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0041 a0001c0001t0004 a0001c0001t0041	a0001c0001t0004g0042 a0001c0001t0004g0152 a0001c0001t0004g0157 others(3): Show a0001c0001t0004g0042 a0001c0001t0004g0152 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0163 a0001c0001t0041g0154	7	405	0.0173	34	c.518 others(49): Show c.518-770_518-769insATATATATATGTGTATATATATATATATAT ATAT	DHODH	ENSG00000102967.12	transcript	ENST00000219240.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
DHODH_chr16_72003744_72032659	72020335	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0161 a0001c0001t0004g0161	1	387	0.0026	34	c.518 others(49): Show c.518-770_518-769insATATATATATATGTGTATATATATATATAT ATAT	DHODH	ENSG00000102967.12	transcript	ENST00000219240.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
DHRS12_chr13_51762993_51809163	51787902	A A	AATTATAT others(27): Show AATTATATATAATATATAAATATATATAATTATAT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	409	0.0024	34	c.301 others(51): Show c.301+2108_301+2109insATATAATTATATATATTTATATATTATA TATAAT	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	4/8			chr13	TogoVar
DHRS7C_chr17_9766438_9796592	9772237	A A	AGAGATAG others(27): Show AGAGATAGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	422	0.0024	34	c.727 others(49): Show c.727+529_727+530insCCCCCCCCCCCCCCCCCCCCCCCCCCCCTA TCTC	DHRS7C	ENSG00000184544.12	transcript	ENST00000571134.2	protein_coding	5/5			chr17	TogoVar
DHRSX_chrX_2214506_2505976	2485789	A A	AGAAGGGA others(27): Show AGAAGGGAGAGAAGGAAGGAAGGGAGAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	45	0.0222	34	c.109 others(53): Show c.109+14994_109+15027dupCTTCCTTCTCTCCCTTCCTTCCTTCT CTCCCTTC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6			chrX	TogoVar
DIABLO_chr12_122202668_122231052	122226363	A A	AGGGAGGC others(27): Show AGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02145.hp2 others(12): Show HG01891.hp2 HG02145.hp1 HG02145.hp2 HG02622.hp2 HG02976.hp1 HG03139.hp2 HG03453.hp1 HG06807.hp1 NA18522.hp1 NA18941.hp2 NA18955.hp2 NA18972.hp1 NA18974.hp1 NA19030.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0004	a0001c0001t0001g0029 a0001c0001t0001g0062 a0001c0001t0003g0013 others(5): Show a0001c0001t0001g0029 a0001c0001t0001g0062 a0001c0001t0003g0013 a0001c0001t0004g0053 a0001c0002t0004g0017 a0001c0002t0004g0027 a0001c0002t0004g0054 a0001c0002t0004g0055	15	327	0.0459	34	c.-38 others(43): Show c.-383_-350dupGCCCGGCCCCGCCTCCCGCCCGGCCCCGCCTCCC	DIABLO	ENSG00000184047.21	transcript	ENST00000464942.7	protein_coding		312		chr12	TogoVar
DIAPH1_chr5_141510021_141624000	141591695	G G	GAGATATA others(27): Show GAGATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0294 a0002c0005t0005g0295 a0002c0005t0005g0294 a0002c0005t0005g0295	2	120	0.0167	34	c.118 others(51): Show c.118-3446_118-3445insATATATATATATATATATATATATATAT ATATCT	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH1_chr5_141510021_141624000	141591695	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	119	0.0084	34	c.118 others(51): Show c.118-3446_118-3445insATATATATATATATATATATATATATAT ATATAT	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH1_chr5_141510021_141624000	141591712	A A	ATATATAT others(27): Show ATATATATATATATATATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02040.hp2 HG02895.hp1 others(2): Show HG00438.hp1 HG02040.hp2 HG02895.hp1 NA19006.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0309	5	295	0.0169	34	c.118 others(51): Show c.118-3463_118-3462insAATATATATAAATATATATATATATATA TATATA	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH2_chrX_96679842_97609997	96939668	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01074.hp1 HG01071.hp2 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0047 a0001c0001t0002g0028 a0001c0001t0001g0047 a0001c0001t0002g0028	2	105	0.0190	34	c.132 others(51): Show c.1325+300_1325+301insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97185449	G G	GTATATAT others(27): Show GTATATATATATGTATATATATGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	124	0.0081	34	c.271 others(55): Show c.2719+43656_2719+43657insATATATATATGTATATATATGTGT ATATATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH3_chr13_59660583_60168928	60156918	C C	CACATATA others(27): Show CACATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG02148.hp1 others(2): Show HG00099.hp1 HG00639.hp2 HG02148.hp1 HG02602.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0068 others(2): Show a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0130 a0001c0002t0001g0136	5	143	0.0350	34	c.180 others(51): Show c.180+6668_180+6669insATATATATATATATATATATATATATAT ATATGT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60156939	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18993.hp2 NA18990.hp2 NA18993.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0002 a0002c0004t0001 a0002c0003t0002 a0002c0004t0001	a0002c0003t0002g0043 a0002c0004t0001g0047 a0002c0003t0002g0043 a0002c0004t0001g0047	2	99	0.0202	34	c.180 others(51): Show c.180+6647_180+6648insAAAAAAAAAATATATATATATATATATA TATATA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DIDO1_chr20_62872743_62931505	62929693	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG02572.hp2 HG02622.hp1 others(4): Show HG00741.hp1 HG02572.hp2 HG02622.hp1 NA18944.hp1 NA18966.hp1 NA18995.hp2 NA19081.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0028 a0003c0003 others(2): Show a0001c0001 a0001c0028 a0003c0003 a0003c0006 a0003c0041	a0001c0001t0001 a0001c0028t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0001c0028t0001 a0003c0003t0001 a0003c0006t0001 a0003c0041t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0028t0001g0082 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0028t0001g0082 a0003c0003t0001g0226 a0003c0006t0001g0246 a0003c0041t0001g0232	7	128	0.0547	34	c.-34 others(45): Show c.-3455_-3454insTATATATATATATATATATATATATATATATATA	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		3189		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62929693	G G	GTATATGT others(27): Show GTATATGTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0012 a0012	a0012c0030 a0012c0030	a0012c0030t0002 a0012c0030t0002	a0012c0030t0002g0043 a0012c0030t0002g0043	1	122	0.0082	34	c.-34 others(45): Show c.-3455_-3454insTATATATATATATATATATATATATATACATATA	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		3189		chr20	TogoVar
DIMT1_chr5_62382254_62408905	62383229	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0127 a0001c0001t0011g0127	1	64	0.0156	34	c.57 others(45): Show c.5780_*5781insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	DIMT1	ENSG00000086189.11	transcript	ENST00000199320.9	protein_coding		4024		chr5	TogoVar
DIP2A_chr21_46453891_46575015	46477543	T T	TTTTGTGT others(27): Show TTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0014	a0001c0006t0014g0171 a0001c0006t0014g0171	1	82	0.0122	34	c.92- others(49): Show c.92-7213_92-7212insTTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2B_chr12_50499985_50753657	50593732	T T	TCTCCCCT others(27): Show TCTCCCCTCCTCTCCTCTCCTCTCCTCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0247 a0001c0002t0003g0247	1	241	0.0041	34	c.101 others(53): Show c.101-32240_101-32239insCCTCCTCTCCTCTCCTCTCCTCTCCC CTCCCTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	380092	C C	CGCAGAAG others(27): Show CGCAGAAGACGCTGTCCCTGGATGATGGTTAACGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	88	0.0114	34	c.199 others(53): Show c.1991+2554_1991+2555insACGTTAACCATCATCCAGGGACAGCG TCTTCTGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	17/36			chr10	TogoVar
DIP2C_chr10_269201_694668	380330	T T	TGCAGAAG others(27): Show TGCAGAAGAGGCTGTCCCTGGAAGATGGTTAACGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG00621.hp2 others(40): Show HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG00738.hp2 HG01081.hp2 HG01099.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02300.hp1 HG02647.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03579.hp1 HG03579.hp2 HG03942.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18962.hp1 NA18962.hp2 NA18970.hp2 NA19007.hp2 NA19066.hp2 NA19074.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0015 a0001c0017 a0001c0018 a0001c0021 a0001c0022 a0001c0023	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(15): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0004t0001 a0001c0004t0003 a0001c0006t0001 a0001c0006t0002 a0001c0007t0002 a0001c0007t0007 a0001c0010t0002 a0001c0011t0003 a0001c0015t0002 a0001c0017t0002 a0001c0018t0003 a0001c0021t0002 a0001c0022t0003 a0001c0023t0003	a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 others(40): Show a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0079 a0001c0002t0001g0030 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0059 a0001c0002t0001g0067 a0001c0002t0001g0080 a0001c0002t0002g0051 a0001c0002t0002g0068 a0001c0002t0003g0011 a0001c0002t0003g0012 a0001c0002t0003g0029 a0001c0002t0003g0031 a0001c0002t0003g0037 a0001c0002t0003g0055 a0001c0002t0003g0058 a0001c0002t0003g0063 a0001c0002t0003g0066 a0001c0002t0003g0069 a0001c0002t0003g0084 a0001c0004t0001g0046 a0001c0004t0001g0083 a0001c0004t0001g0086 a0001c0004t0003g0078 a0001c0006t0001g0034 a0001c0006t0002g0033 a0001c0006t0002g0035 a0001c0006t0002g0054 a0001c0007t0002g0076 a0001c0007t0002g0077 a0001c0007t0007g0056 a0001c0010t0002g0001 a0001c0011t0003g0088 a0001c0015t0002g0082 a0001c0017t0002g0065 a0001c0018t0003g0007 a0001c0021t0002g0081 a0001c0022t0003g0002 a0001c0023t0003g0057	43	87	0.4943	34	c.199 others(53): Show c.1991+2283_1991+2316dupGCGTTAACCATCTTCCAGGGACAGCC TCTTCTGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	17/36			chr10	TogoVar
DIP2C_chr10_269201_694668	380365	G G	GCAGAAGA others(27): Show GCAGAAGAGGCTGTCCCTGGAAGATGGTTAACGCA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	88	0.0114	34	c.199 others(53): Show c.1991+2281_1991+2282insTGCGTTAACCATCTTCCAGGGACAGC CTCTTCTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	17/36			chr10	TogoVar
DIP2C_chr10_269201_694668	414739	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0021 a0001c0003t0002g0021	1	36	0.0278	34	c.860 others(49): Show c.860-630_860-629insTATATATATATATATATATATATATATATA TATA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	7/36			chr10	TogoVar
DIP2C_chr10_269201_694668	477356	G G	GGGGAGAG others(27): Show GGGGAGAGAGGGGGAGGGAGGGGGAGAGAGGGGGA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	77	0.0130	34	c.158 others(51): Show c.158-4808_158-4807insTCCCCCTCTCTCCCCCTCCCTCCCCCTC TCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	516568	G G	GGCGAAGG others(27): Show GGCGAAGGGGAAGGGGGTAAGGTGGACAGTGGGAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	68	0.0147	34	c.86- others(51): Show c.86-30039_86-30038insGTCCCACTGTCCACCTTACCCCCTTCCC CTTCGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608577	C C	CCCCCCCA others(27): Show CCCCCCCACACACACATCCCCCCCCACACACACAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0083 a0001c0004t0001g0083	1	80	0.0125	34	c.85+ others(51): Show c.85+80916_85+80917insATGTGTGTGTGGGGGGGGATGTGTGTGT GGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIS3L2_chr2_231956713_232342192	232086659	A A	ACACATAT others(27): Show ACACATATATATATATGTATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03486.hp2 HG03942.hp2 HG02145.hp1 HG03486.hp2 HG03942.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0185 a0002c0004t0001g0186 a0002c0004t0001g0187 a0002c0004t0001g0185 a0002c0004t0001g0186 a0002c0004t0001g0187	3	71	0.0423	34	c.367 others(49): Show c.367-828_367-827insCACATATATATATATGTATATATATATATA TGTG	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	5/20			chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232086659	A A	ACACATAT others(27): Show ACACATATATATATATGTATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19043.hp2 NA19240.hp1 HG02647.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0211	3	71	0.0423	34	c.367 others(49): Show c.367-828_367-827insCACATATATATATATGTATATATATATATG TGTG	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	5/20			chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232086659	A A	ACACATAT others(27): Show ACACATATATATATGTATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp2 HG01169.hp1 others(6): Show HG01081.hp1 HG01167.hp2 HG01169.hp1 HG03209.hp2 HG03688.hp2 HG03834.hp1 HG04199.hp2 NA18522.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0001 a0001c0002t0001 a0003c0007t0003 a0001c0001t0001 a0001c0002t0001 a0003c0007t0003	a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0023 others(6): Show a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0002t0001g0190 a0001c0002t0001g0227 a0003c0007t0003g0018 a0003c0007t0003g0020 a0003c0007t0003g0022 a0003c0007t0003g0024	9	77	0.1169	34	c.367 others(49): Show c.367-828_367-827insCACATATATATATGTATATATATATATATG TGTG	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	5/20			chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232086659	A A	ATACACAT others(27): Show ATACACATATATATATATGTATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0216 a0002c0005t0002g0216	1	69	0.0145	34	c.367 others(49): Show c.367-827_367-826insACACATATATATATATGTATATATATATAT ATGT	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232086659	A A	ATACACAT others(27): Show ATACACATATATATATGTATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	69	0.0145	34	c.367 others(49): Show c.367-827_367-826insACACATATATATATGTATATATATATATGT GTGT	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232086659	A A	ATACACAT others(27): Show ATACACATATATATATGTGTATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03486.hp1 HG03540.hp2 HG02717.hp1 HG03486.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134	3	71	0.0423	34	c.367 others(49): Show c.367-827_367-826insACACATATATATATGTGTATATATATATAT GTGT	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr2	TogoVar

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