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
CTDP1_chr18_79674803_79759503	79694237	G G	GGCTGGGA others(89): Show GGCTGGGACAGGAGTGTGGGGGCTGTGAGCACCTAGGGGCGGGTGCTGAG TGCCGGGCGGCCTCATGTCTGCAGGGCAGGGTGGTCGGAGCAGCCCA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0013 a0001c0041t0013	a0001c0041t0013g0100 a0001c0041t0013g0100	1	278	0.0036	96	c.315 others(111): Show c.315-981_315-980insCAGGAGTGTGGGGGCTGTGAGCACCTAGGG GCGGGTGCTGAGTGCCGGGCGGCCTCATGTCTGCAGGGCAGGGTGGTCGG AGCAGCCCAGCTGGGA	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79694280	C C	CGCTGAGT others(89): Show CGCTGAGTGCTGGGCGGTCTCATGTCCACGGGGTGGGGTGGTCGGAGCAG CCCGGCTGGGGTGGGAGTGTGGGGGCTGTGAGCACCTAGGGGCGGGT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0102 a0001c0001t0008g0102	1	375	0.0027	96	c.315 others(111): Show c.315-893_315-892insGGCTGGGGTGGGAGTGTGGGGGCTGTGAGC ACCTAGGGGCGGGTGCTGAGTGCTGGGCGGTCTCATGTCCACGGGGTGGG GTGGTCGGAGCAGCCC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79694318	T T	TGGTCAGA others(89): Show TGGTCAGAGCAGCCCGGCTGGGGTGGGAGTGTGGGGGCTGCGGACACCTA GGGTCAGGCGCTGAGTGCTGGGTGGTCTCATGTTCGCAGGGTGGGGC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0052 a0001c0003t0001g0052	1	376	0.0027	96	c.315 others(111): Show c.315-903_315-902insAGAGCAGCCCGGCTGGGGTGGGAGTGTGGG GGCTGCGGACACCTAGGGTCAGGCGCTGAGTGCTGGGTGGTCTCATGTTC GCAGGGTGGGGCGGTC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79694407	C C	CGGTGGTC others(89): Show CGGTGGTCGGAGCAGCCCGGCTGGGATGGGAGTGTGGGGGCTACAGGCAC CTAGGGGTGGGCGCTGAGTGCTGGGCGGCCTCATGTCTGCAGGGCAG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0238 a0002c0002t0001g0238	1	366	0.0027	96	c.315 others(111): Show c.315-741_315-740insCCTCATGTCTGCAGGGCAGGGTGGTCGGAG CAGCCCGGCTGGGATGGGAGTGTGGGGGCTACAGGCACCTAGGGGTGGGC GCTGAGTGCTGGGCGG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79694432	A A	ATGGGAGT others(89): Show ATGGGAGTGTGGGGGCTACAGGCACCTAGGGGTGGGCGCTGAGTGCTGGG CGGTCTCATGTCCACGGGGTGGGGTGGTCGGAGCAGCCCGGCTGGGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02451.hp2 others(8): Show HG01891.hp2 HG02145.hp2 HG02451.hp2 HG02647.hp2 HG02723.hp1 HG02818.hp1 HG03195.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0006t0001 a0002c0002t0001 a0002c0006t0001	a0002c0002t0001g0216 a0002c0002t0001g0218 a0002c0002t0001g0324 others(8): Show a0002c0002t0001g0216 a0002c0002t0001g0218 a0002c0002t0001g0324 a0002c0006t0001g0217 a0002c0006t0001g0231 a0002c0006t0001g0232 a0002c0006t0001g0233 a0002c0006t0001g0234 a0002c0006t0001g0235 a0002c0006t0001g0236 a0002c0006t0001g0237	11	299	0.0368	96	c.315 others(111): Show c.315-776_315-681dupACAGGCACCTAGGGGTGGGCGCTGAGTGCT GGGCGGTCTCATGTCCACGGGGTGGGGTGGTCGGAGCAGCCCGGCTGGGG TGGGAGTGTGGGGGCT	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTNND2_chr5_10966836_11909446	11879341	G G	GTGTATAT others(89): Show GTGTATATATATATATATATATATATATACATATATATATGTATATATAT ATATATATGTATATATATATATATATATATATATATATGTATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0002 a0001c0007t0001g0002	1	21	0.0476	96	c.37+ others(113): Show c.37+24475_37+24476insTATATATACATATATATATATATATATA TATATATATACATATATATATATATATACATATATATATGTATATATATA TATATATATATATATACA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11879341	G G	GTGTATAT others(89): Show GTGTATATATATATATATATATATATATATATATATATATATGTATATAT ATATATATATATGTATATATATATATATATATATATATGTATATATA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	21	0.0476	96	c.37+ others(113): Show c.37+24475_37+24476insTATATATACATATATATATATATATATA TATATACATATATATATATATATATACATATATATATATATATATATATA TATATATATATATATACA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTR9_chr11_10746246_10784746	10747213	G G	GTATATTA others(89): Show GTATATTATATATTTATATAATTATATATAATATATATTATATATTTATA TAATTATATATAATATATATTATATATTTATATAATTATATATAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA19060.hp1 NA18961.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	150	0.0133	96	c.-42 others(107): Show c.-4200_-4199insTATATTATATATTTATATAATTATATATAATATA TATTATATATTTATATAATTATATATAATATATATTATATATTTATATAA TTATATATAATA	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding		4032		chr11	TogoVar
CTTNBP2_chr7_117705651_117878441	117864843	C C	CTATATTC others(89): Show CTATATTCATATATATTCATTCAATATATATTCATATATATTCATTCTAT ATTCATATATATTCATTCAATATATATTCATATATATTCATTCAATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	129	0.0078	96	c.82- others(111): Show c.82-3528_82-3527insTATTGAATGAATATATATGAATATATATTG AATGAATATATATGAATATAGAATGAATATATATGAATATATATTGAATG AATATATATGAATATA	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	1/22			chr7	TogoVar
CXorf51A_chrX_146809106_146819744	146812146	C C	CATATATA others(89): Show CATATATACACATGTGTATATATGTGTATATACACATATATACACATGTG TATATACGTATATACACATATATATGTGTATATACGTATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	41	0.0244	96	c.20 others(107): Show c.2060_*2061insATGTGTATATACGTATATACACATATATATGTGT ATATACGTATATACACATGTGTATATATGTGTATATACACATATATACAC ATGTGTATATAT	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1959		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146812146	C C	CATATATA others(89): Show CATATATACACATGTGTATATATGTGTATATACACATATATACACATGTG TATATATGTATATACACATATATATGTGTATATACGTATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG06807.hp2 HG01891.hp1 HG02451.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	43	0.0698	96	c.20 others(107): Show c.2060_*2061insATGTGTATATACGTATATACACATATATATGTGT ATATACATATATACACATGTGTATATATGTGTATATACACATATATACAC ATGTGTATATAT	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1959		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812146	C C	CATATATA others(89): Show CATATATACACATGTGTATATATGTGTATATACACATATATACACATGTG TATATACGTATATACACATATATATGTGTATATACGTATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	49	0.0204	96	c.18 others(107): Show c.1838_*1839insATATATACACATGTGTATATATGTGTATATACAC ATATATACACATGTGTATATACGTATATACACATATATATGTGTATATAC GTATATACACAT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1736		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812146	C C	CATATATA others(89): Show CATATATACACATGTGTATATATGTGTATATACACATATATACACATGTG TATATATGTATATACACATATATATGTGTATATACGTATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG06807.hp1 HG01891.hp2 HG02451.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	51	0.0588	96	c.18 others(107): Show c.1838_*1839insATATATACACATGTGTATATATGTGTATATACAC ATATATACACATGTGTATATATGTATATACACATATATATGTGTATATAC GTATATACACAT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1736		chrX	TogoVar
CYBC1_chr17_82437586_82455752	82443764	G G	GGCCACGG others(89): Show GGCCACGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACCGGGAATGTG CCACGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACCAGGAATGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0094 a0001c0002t0021g0094	1	267	0.0037	96	c.23 others(105): Show c.239_*240insACATTCCTGGTGTGCCTGAGCCCGTGCACCGCCCAC AGGACCCGTGGCACATTCCCGGTGTGCCTGAGCCCGTGCACCGCCCACAG GACCCGTGGC	CYBC1	ENSG00000178927.19	transcript	ENST00000306645.10	protein_coding	7/7	239		chr17	TogoVar
CYBC1_chr17_82437586_82455752	82443764	G G	GGCCACGG others(89): Show GGCCACGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACCGGGAATGTG CCACGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACCGGGAATGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00639.hp1 others(90): Show HG00423.hp1 HG00597.hp2 HG00639.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp1 HG01175.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01433.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02683.hp2 HG02738.hp2 HG03139.hp2 HG03239.hp1 HG03490.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18612.hp2 NA18940.hp1 NA18942.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp2 NA18997.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19086.hp2 NA19090.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0002t0002 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0002 a0001c0002t0006 a0001c0002t0024	a0001c0001t0002g0081 a0001c0001t0006g0034 a0001c0001t0006g0104 others(18): Show a0001c0001t0002g0081 a0001c0001t0006g0034 a0001c0001t0006g0104 a0001c0002t0002g0002 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0017 a0001c0002t0002g0025 a0001c0002t0002g0036 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0053 a0001c0002t0002g0055 a0001c0002t0002g0067 a0001c0002t0002g0093 a0001c0002t0006g0014 a0001c0002t0006g0026 a0001c0002t0006g0052 a0001c0002t0006g0109 a0001c0002t0024g0117	93	359	0.2591	96	c.14 others(105): Show c.144_*239dupACATTCCCGGTGTGCCTGAGCCCGTGCACCGCCCAC AGGACCCGTGGCACATTCCCGGTGTGCCTGAGCCCGTGCACCGCCCACAG GACCCGTGGC	CYBC1	ENSG00000178927.19	transcript	ENST00000306645.10	protein_coding	7/7	239		chr17	TogoVar
CYBC1_chr17_82437586_82455752	82443764	G G	GGCCATGG others(89): Show GGCCATGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACCGGGAATGTG CCACGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACCGGGAATGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp1 HG02809.hp1 HG02630.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0076 a0001c0002t0013g0113 a0001c0002t0013g0076 a0001c0002t0013g0113	2	268	0.0075	96	c.23 others(105): Show c.239_*240insACATTCCCGGTGTGCCTGAGCCCGTGCACCGCCCAC AGGACCCGTGGCACATTCCCGGTGTGCCTGAGCCCGTGCACCGCCCACAG GACCCATGGC	CYBC1	ENSG00000178927.19	transcript	ENST00000306645.10	protein_coding	7/7	239		chr17	TogoVar
CYLC1_chrX_83856146_83891698	83878338	T T	TATATAAA others(89): Show TATATAAATATATAAATATATATAAATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02976.hp1 HG01891.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0064 a0001c0001t0001g0031 a0001c0001t0001g0064	2	201	0.0100	96	c.192 others(115): Show c.1923+3710_1923+3711insTAAATATATAAATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATAAATATATATAAATA TATATAAATATATATAAATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYP2E1_chr10_133522363_133544123	133525140	G G	GCAGAGGC others(89): Show GCAGAGGCACAGGCACCCTGTCGTCCTGATTATTTCACCTTGTCACGGGC AGAGGCACAGGCACCCTGTCGTCCTGATTATTTCACCTTGTCACGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00558.hp1 others(82): Show HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00621.hp1 HG00733.hp1 HG01175.hp2 HG01243.hp1 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG01978.hp2 HG02027.hp2 HG02055.hp2 HG02080.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02486.hp2 HG02523.hp2 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp2 HG02965.hp1 HG03017.hp1 HG03239.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp2 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18943.hp2 NA18948.hp1 NA18951.hp1 NA18956.hp1 NA18957.hp2 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp2 NA19003.hp2 NA19005.hp1 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19056.hp1 NA19058.hp2 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19089.hp2 NA19090.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0010 others(3): Show a0001c0001 a0001c0002 a0001c0010 a0001c0014 a0003c0012 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0010t0001 a0001c0014t0001 a0003c0012t0001 a0006c0013t0001	a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0074 others(22): Show a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0002g0101 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0033 a0001c0002t0001g0076 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0004g0088 a0001c0010t0001g0033 a0001c0014t0001g0004 a0003c0012t0001g0083 a0006c0013t0001g0004	85	412	0.2063	96	c.-22 others(107): Show c.-2256_-2255insCAGAGGCACAGGCACCCTGTCGTCCTGATTATTT CACCTTGTCACGGGCAGAGGCACAGGCACCCTGTCGTCCTGATTATTTCA CCTTGTCACGGA	CYP2E1	ENSG00000130649.10	transcript	ENST00000252945.8	protein_coding		2222		chr10	TogoVar
CYP4F11_chr19_15907377_15939529	15912717	G G	GTGTGTGT others(89): Show GTGTGTGTGTGTATATGTATATATGTGTGTGTGTGTGTGTATATATATAT GTGTGTGTGTGTGTATATATGTATATGTGTGTGTGTGTATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0128 a0002c0001t0128	a0002c0001t0128g0325 a0002c0001t0128g0325	1	382	0.0026	96	c.10 others(107): Show c.1014_*1015insTATATATATACACACACACACATATACATATATA CACACACACACACATATATATATACACACACACACACACATATATACATA TACACACACACA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	12/12	1014		chr19	TogoVar
DCC_chr18_52335197_53540899	52927168	T T	TGTGTATA others(89): Show TGTGTATATACGTGTATATATACGTATATACGTGTATATATACGTATATA CGTGTATATACGTATATATACGTATATGTGTATATATGTGTATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00597.hp1 others(17): Show HG00099.hp2 HG00280.hp1 HG00597.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01884.hp2 HG01993.hp2 HG03195.hp1 HG03471.hp1 HG03669.hp2 HG03831.hp1 HG04228.hp2 NA18979.hp2 NA19065.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0001c0003 a0001c0007 others(3): Show a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0010 a0005c0016	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(11): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0016 a0001c0002t0034 a0001c0003t0004 a0001c0003t0012 a0001c0003t0016 a0001c0003t0028 a0001c0007t0003 a0001c0008t0025 a0001c0008t0026 a0001c0010t0003 a0005c0016t0021	a0001c0002t0001g0094 a0001c0002t0001g0103 a0001c0002t0003g0059 others(17): Show a0001c0002t0001g0094 a0001c0002t0001g0103 a0001c0002t0003g0059 a0001c0002t0005g0050 a0001c0002t0016g0047 a0001c0002t0034g0091 a0001c0003t0004g0052 a0001c0003t0004g0077 a0001c0003t0012g0082 a0001c0003t0012g0100 a0001c0003t0016g0007 a0001c0003t0028g0076 a0001c0007t0003g0025 a0001c0007t0003g0026 a0001c0007t0003g0035 a0001c0007t0003g0099 a0001c0008t0025g0086 a0001c0008t0026g0095 a0001c0010t0003g0096 a0005c0016t0021g0033	20	54	0.3704	96	c.985 others(113): Show c.985+1800_985+1801insGTATATACGTGTATATATACGTATATAC GTGTATATATACGTATATACGTGTATATACGTATATATACGTATATGTGT ATATATGTGTATATACGT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52927168	T T	TGTGTATA others(89): Show TGTGTATATACGTGTATATATACGTGTATACGTGTGTATATACGTATATA CGTGTATATACGTATATATACGTATATGTGTATATATGTGTATATAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0041 a0001c0003t0003g0041	1	35	0.0286	96	c.985 others(113): Show c.985+1800_985+1801insGTATATACGTGTATATATACGTGTATAC GTGTGTATATACGTATATACGTGTATATACGTATATATACGTATATGTGT ATATATGTGTATATACGT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53428611	T T	TTTTATAT others(89): Show TTTTATATATAATTATATAATATATTTTTATATATAATGTATATTTTATA TATTATATATATTTTATATATAATGTATATTTTATATATTATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00597.hp1 others(24): Show HG00099.hp2 HG00280.hp1 HG00597.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01106.hp1 HG01192.hp2 HG01255.hp1 HG01433.hp2 HG01884.hp1 HG02486.hp2 HG02602.hp1 HG02809.hp1 HG02922.hp1 HG02970.hp1 HG03017.hp2 HG03130.hp2 HG03209.hp2 HG03831.hp1 HG04199.hp2 NA18971.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0009	a0001c0003 a0001c0007 a0002c0004 others(4): Show a0001c0003 a0001c0007 a0002c0004 a0002c0011 a0002c0018 a0008c0017 a0009c0019	a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 others(15): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0013 a0001c0003t0016 a0001c0003t0020 a0001c0003t0028 a0001c0003t0030 a0001c0003t0032 a0001c0007t0003 a0002c0004t0003 a0002c0004t0013 a0002c0004t0014 a0002c0004t0017 a0002c0011t0003 a0002c0018t0004 a0008c0017t0004 a0009c0019t0005	a0001c0003t0001g0058 a0001c0003t0003g0041 a0001c0003t0003g0073 others(24): Show a0001c0003t0001g0058 a0001c0003t0003g0041 a0001c0003t0003g0073 a0001c0003t0003g0097 a0001c0003t0004g0008 a0001c0003t0004g0052 a0001c0003t0004g0057 a0001c0003t0004g0077 a0001c0003t0004g0092 a0001c0003t0013g0075 a0001c0003t0016g0007 a0001c0003t0020g0102 a0001c0003t0028g0076 a0001c0003t0030g0020 a0001c0003t0032g0109 a0001c0007t0003g0035 a0001c0007t0003g0099 a0002c0004t0003g0012 a0002c0004t0003g0023 a0002c0004t0003g0083 a0002c0004t0013g0042 a0002c0004t0014g0043 a0002c0004t0017g0062 a0002c0011t0003g0090 a0002c0018t0004g0071 a0008c0017t0004g0110 a0009c0019t0005g0014	27	106	0.2547	96	c.316 others(115): Show c.3164-6530_3164-6529insATATATAATTATATAATATATTTTTA TATATAATGTATATTTTATATATTATATATATTTTATATATAATGTATAT TTTATATATTATATATATTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC2_chr6_24166755_24363059	24220891	T T	TGAGCGAG others(89): Show TGAGCGAGCGAGCGAGAGAGTGAGCGAGAGAGCGAGCGAGCGAGCGAGAG AGTGAGCGAGAGAGCGAGCGAGCGAGCGAGAGAGTGAGCGAGAGAGC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0004 a0004c0009t0004	a0004c0009t0004g0176 a0004c0009t0004g0176	1	196	0.0051	96	c.923 others(115): Show c.923-15790_923-15789insGCTCTCTCGCTCACTCTCTCGCTCGC TCGCTCGCTCTCTCGCTCACTCTCTCGCTCGCTCGCTCGCTCTCTCGCTC ACTCTCTCGCTCGCTCGCTC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCDC2_chr6_24166755_24363059	24359234	A A	ATATATTT others(89): Show ATATATTTTATATATTATATATAATATATATTTTATATTTTATATATTAT ATATAATATATATTTTATATTTTATATATTATATATAATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01081.hp2 HG02055.hp2 others(10): Show HG00642.hp1 HG01081.hp2 HG02055.hp2 HG02145.hp1 HG02486.hp1 HG02615.hp2 HG02886.hp1 HG02895.hp2 HG02976.hp2 HG03195.hp2 HG03540.hp1 NA18522.hp2 NA19240.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0002 a0003c0003t0005 a0002c0002t0001 a0003c0003t0002 a0003c0003t0005	a0002c0002t0001g0133 a0003c0003t0002g0134 a0003c0003t0002g0135 others(10): Show a0002c0002t0001g0133 a0003c0003t0002g0134 a0003c0003t0002g0135 a0003c0003t0002g0136 a0003c0003t0002g0137 a0003c0003t0002g0138 a0003c0003t0002g0139 a0003c0003t0002g0155 a0003c0003t0005g0140 a0003c0003t0005g0141 a0003c0003t0005g0142 a0003c0003t0005g0143 a0003c0003t0005g0144	13	141	0.0922	96	c.-14 others(107): Show c.-1485_-1484insAAATATATATTATATATAATATATAAAATATAAA ATATATATTATATATAATATATAAAATATAAAATATATATTATATATAAT ATATAAAATATA	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding		1176		chr6	TogoVar
DCLK1_chr13_35763652_36136382	35958162	T T	TCACCACC others(89): Show TCACCACCATCACCACTATAACCACTAGCACCACCACCACTACTATAACC ATCACCACCATCACTGCTATAACCACCACCACCACCACTATAACCAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA19240.hp2 HG02970.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0006 a0001c0001t0003 a0001c0002t0006	a0001c0001t0003g0171 a0001c0002t0006g0120 a0001c0001t0003g0171 a0001c0002t0006g0120	2	207	0.0097	96	c.724 others(115): Show c.724-10706_724-10705insGTGGTTATAGTGGTGGTGGTGGTGGT TATAGCAGTGATGGTGGTGATGGTTATAGTAGTGGTGGTGGTGCTAGTGG TTATAGTGGTGATGGTGGTG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DCLK2_chr4_150073445_150262438	150251241	A A	ACACACCA others(89): Show ACACACCACAAATCCTCCACACCCCCCAACACCCCCACACACCCCCCACA CCACACATCCCTCACACCCCCAACACCCCCACACCTCCCACACCTCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03490.hp1 HG04204.hp2 others(1): Show HG00735.hp1 HG03490.hp1 HG04204.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0046 a0001c0001t0003g0047 others(1): Show a0001c0001t0003g0034 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0055	4	73	0.0548	96	c.207 others(115): Show c.2073+1561_2073+1562insCCACAAATCCTCCACACCCCCCAACA CCCCCACACACCCCCCACACCACACATCCCTCACACCCCCAACACCCCCA CACCTCCCACACCTCCCACA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DDA1_chr19_17304563_17328298	17315208	T T	TGTATACA others(89): Show TGTATACACGCACGTATATACACACACGTGTATACACGCACGTATATACA CACACGTGTATACACGCACGTATATACACACACGTGTATATACGCAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0218 a0001c0001t0027g0218	1	367	0.0027	96	c.137 others(111): Show c.137-721_137-720insCACGCACGTATATACACACACGTGTATACA CGCACGTATATACACACACGTGTATACACGCACGTATATACACACACGTG TATATACGCACGTATA	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDX18_chr2_117809691_117837377	117836400	T T	TGGAAGGA others(89): Show TGGAAGGACAGTCTTACCCGGACGCCACGGTGGTCTCCCGGCAGCCCTGG GAAGGACAGTCTTACCCGGACGCCACGGTGGTCTCCCGGCAGCCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG02280.hp1 HG06807.hp1 HG01123.hp2 HG02280.hp1 HG06807.hp1	a0002 a0005 a0002 a0005	a0002c0001 a0005c0009 a0002c0001 a0005c0009	a0002c0001t0002 a0005c0009t0008 a0002c0001t0002 a0005c0009t0008	a0002c0001t0002g0001 a0005c0009t0008g0038 a0002c0001t0002g0001 a0005c0009t0008g0038	3	97	0.0309	96	c.56 others(107): Show c.5676_*5677insGGAAGGACAGTCTTACCCGGACGCCACGGTGGTC TCCCGGCAGCCCTGGGAAGGACAGTCTTACCCGGACGCCACGGTGGTCTC CCGGCAGCCCTG	DDX18	ENSG00000088205.13	transcript	ENST00000263239.7	protein_coding		4024		chr2	TogoVar
DDX28_chr16_68015916_68028232	68020784	C C	CGTATATA others(89): Show CGTATATATATATACATATATATATACACGTATATGTATGTATATATATA TATATACGTATGTATATATATATATATATATATATATATATACGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG02080.hp1 HG00609.hp2 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	372	0.0054	96	c.79 others(105): Show c.795_*796insATACGTATATATATATATATATATATATATATATAC ATACGTATATATATATATATACATACATATACGTGTATATATATATGTAT ATATATATAC	DDX28	ENSG00000182810.7	transcript	ENST00000332395.7	protein_coding		131		chr16	TogoVar
DEAF1_chr11_639233_700222	640023	C C	CGGCCCCG others(89): Show CGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCGGGGTCCCTGCG GCCCCGACTGTGCGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	338	0.0030	96	c.45 others(107): Show c.4526_*4527insACAGGGGTCCTGGGGGAGGCTGGGCGCGGCGGGC GCACAGTCGGGGCCGCAGGGACCCCGGGGAAGGCCGGGCGCGGGGGGCGC ACAGTCGGGGCC	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding		4209		chr11	TogoVar
DEAF1_chr11_639233_700222	640113	C C	CCCCTGCG others(89): Show CCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACC CCTGCGGCTCCAACTGTGCGCCCCCCGCGCCCGGCCTTCCCCGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0260 a0001c0002t0001g0260	1	344	0.0029	96	c.44 others(107): Show c.4436_*4437insACCCCGGGGAAGGCCGGGCGCGGGGGGCGCACAG TTGGAGCCGCAGGGGTCCGGGGGGAGGCCGGGCGCGGGGGGCGCACAGTC GGGGCCGCAGGG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding		4119		chr11	TogoVar
DEAF1_chr11_639233_700222	640119	C C	CGGCCCCG others(89): Show CGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCGGGGTCCCTGCG GCCCCGACTGTGCGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0223	1	117	0.0085	96	c.44 others(107): Show c.4430_*4431insACAGGGGTCCTGGGGGAGGCTGGGCGCGGCGGGC GCACAGTCGGGGCCGCAGGGACCCCGGGGAAGGCCGGGCGCGGGGGGCGC ACAGTCGGGGCC	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding		4113		chr11	TogoVar
DEAF1_chr11_639233_700222	640138	C C	CCCGCGCC others(89): Show CCCGCGCCCGGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCC CGCGCCCGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0216	1	344	0.0029	96	c.44 others(107): Show c.4411_*4412insCGGGCGCACAGTCGGGGCCGCAGGGACCCCGGGG AAGGCCGGGCGCGGGGGGCGCACAGTCGGGGCCGCAGGGGTCCTGGGGGA GGCCGGGCGCGG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding		4094		chr11	TogoVar
DENND1A_chr9_123374658_123935126	123690039	A A	AGGGAAGA others(89): Show AGGGAAGAAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGAAG GAAAGGAGGGAGGGAGGGAGGGAGGGAGGAAGAAAAAGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0088 a0001c0002t0004g0088	1	160	0.0063	96	c.303 others(115): Show c.303-13251_303-13250insCCCTCCCTCCTTTTTCTTCCTCCCTC CCTCCCTCCCTCCCTCCTTTCCTTCTTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCTTTCCTTCTTCCC	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(89): Show CGGGGGGGCGGCGAGGACAGGGCGGGGGGGCGGCGAGGACAGGGCAGGGG GGGGCCACGAGGACAGGGCGGGGGGGGGGGCGGCGAGGACAGGGTGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0071 a0001c0001t0020g0071	1	37	0.0270	96	c.453 others(111): Show c.453+356_453+357insCCACCCTGTCCTCGCCGCCCCCCCCCCCGC CCTGTCCTCGTGGCCCCCCCCTGCCCTGTCCTCGCCGCCCCCCCGCCCTG TCCTCGCCGCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(89): Show CGGGGGGGCGGCGAGGACAGGGCGGGGGGGCGGCGAGGACAGGGCAGGGG GGGGCCACGAGGACAGGGCGGGGGGGGGGGGCGGCGAGGACAGGGTG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00733.hp1 HG00733.hp2 others(23): Show HG00621.hp2 HG00733.hp1 HG00733.hp2 HG01071.hp1 HG01071.hp2 HG01978.hp1 HG02132.hp2 HG02280.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03492.hp1 NA18522.hp1 NA18939.hp1 NA18954.hp1 NA18969.hp1 NA18970.hp1 NA18974.hp1 NA19012.hp2 NA19057.hp1 NA19070.hp1 NA19088.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0011 others(1): Show a0001c0001 a0001c0009 a0001c0011 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0017 a0001c0001t0036 a0001c0001t0043 a0001c0009t0002 a0001c0011t0012 a0001c0012t0003	a0001c0001t0001g0078 a0001c0001t0002g0004 a0001c0001t0002g0038 others(22): Show a0001c0001t0001g0078 a0001c0001t0002g0004 a0001c0001t0002g0038 a0001c0001t0002g0044 a0001c0001t0002g0079 a0001c0001t0002g0091 a0001c0001t0002g0137 a0001c0001t0002g0318 a0001c0001t0003g0030 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0096 a0001c0001t0003g0108 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0134 a0001c0001t0003g0140 a0001c0001t0009g0122 a0001c0001t0017g0080 a0001c0001t0036g0033 a0001c0001t0043g0136 a0001c0009t0002g0063 a0001c0011t0012g0148 a0001c0011t0012g0157 a0001c0012t0003g0195	26	62	0.4194	96	c.453 others(111): Show c.453+356_453+357insCACCCTGTCCTCGCCGCCCCCCCCCCCCGC CCTGTCCTCGTGGCCCCCCCCTGCCCTGTCCTCGCCGCCCCCCCGCCCTG TCCTCGCCGCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(89): Show CGGGGGGGCGGCGAGGACAGGGCGGGGGGGCGGCGAGGACAGGGCAGGGG GGGGGCCACGAGGACAGGGCGGGGGGGGGGGCGGCGAGGACAGGGTG	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	37	0.0270	96	c.453 others(111): Show c.453+356_453+357insCACCCTGTCCTCGCCGCCCCCCCCCCCGCC CTGTCCTCGTGGCCCCCCCCCTGCCCTGTCCTCGCCGCCCCCCCGCCCTG TCCTCGCCGCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(89): Show CGGGGGGGCGGCGAGGACAGGGCGGGGGGGGCGGCGAGGACAGGGCAGGG GGGGGCCACGAGGACAGGGCGGGGGGGGGGGCGGCGAGGACAGGGTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00738.hp1 HG01109.hp2 others(1): Show HG00609.hp1 HG00738.hp1 HG01109.hp2 NA19085.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0013 a0001c0001 a0004c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0004c0013t0003	a0001c0001t0002g0109 a0001c0001t0003g0053 a0001c0001t0013g0155 others(1): Show a0001c0001t0002g0109 a0001c0001t0003g0053 a0001c0001t0013g0155 a0004c0013t0003g0081	4	40	0.1000	96	c.453 others(111): Show c.453+356_453+357insCACCCTGTCCTCGCCGCCCCCCCCCCCGCC CTGTCCTCGTGGCCCCCCCCTGCCCTGTCCTCGCCGCCCCCCCCGCCCTG TCCTCGCCGCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(89): Show CGGGGGGGGCGGCGAGGACAGGGCGGGGGGGCGGCGAGGACAGGGCAGGG GGGGGCCACGAGGACAGGGCGGGGGGGGGGGCGGCGAGGACAGGGTG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02257.hp1 NA19054.hp2 HG01123.hp1 HG02257.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0001t0003 a0001c0009t0003 a0001c0001t0002 a0001c0001t0003 a0001c0009t0003	a0001c0001t0002g0060 a0001c0001t0003g0097 a0001c0009t0003g0056 a0001c0001t0002g0060 a0001c0001t0003g0097 a0001c0009t0003g0056	3	39	0.0769	96	c.453 others(111): Show c.453+356_453+357insCACCCTGTCCTCGCCGCCCCCCCCCCCGCC CTGTCCTCGTGGCCCCCCCCTGCCCTGTCCTCGCCGCCCCCCCGCCCTGT CCTCGCCGCCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(89): Show CGGGGGGGGGGGGCGAGGACAGGGCGGGGGGGCGGCGAGGACAGGGCGGG GGGGGCGGCGAGGACAGGGCAGGGGGGGGCCACGAGGACAGGGTGGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03710.hp1 HG01192.hp2 HG03710.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0039 a0002c0008t0001 a0002c0008t0039	a0002c0008t0001g0257 a0002c0008t0039g0235 a0002c0008t0001g0257 a0002c0008t0039g0235	2	38	0.0526	96	c.453 others(111): Show c.453+356_453+357insCCCACCCTGTCCTCGTGGCCCCCCCCTGCC CTGTCCTCGCCGCCCCCCCCGCCCTGTCCTCGCCGCCCCCCCGCCCTGTC CTCGCCCCCCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(89): Show CGGGGGGGGGGGGCGAGGACAGGGCGGGGGGGGCGGCGAGGACAGGGCGG GGGGGCGGCGAGGACAGGGCAGGGGGGGGCCACGAGGACAGGGTGGG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0231 a0002c0008t0001g0231	1	37	0.0270	96	c.453 others(111): Show c.453+356_453+357insCCCACCCTGTCCTCGTGGCCCCCCCCTGCC CTGTCCTCGCCGCCCCCCCGCCCTGTCCTCGCCGCCCCCCCCGCCCTGTC CTCGCCCCCCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(89): Show CGGGGGGGGGGGGGCGAGGACAGGGCGGGGGGGCGGCGAGGACAGGGCGG GGGGGCGGCGAGGACAGGGCAGGGGGGGGCCACGAGGACAGGGTGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0221 a0002c0002t0015g0221	1	37	0.0270	96	c.453 others(111): Show c.453+356_453+357insCCCACCCTGTCCTCGTGGCCCCCCCCTGCC CTGTCCTCGCCGCCCCCCCGCCCTGTCCTCGCCGCCCCCCCGCCCTGTCC TCGCCCCCCCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(89): Show CGGGGGGGGGGGGGCGAGGACAGGGCGGGGGGGCGGCGAGGACAGGGCGG GGGGGGCGGCGAGGACAGGGCAGGGGGGGGCCACGAGGACAGGGTGG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0230 a0002c0008t0001g0230	1	37	0.0270	96	c.453 others(111): Show c.453+356_453+357insCCACCCTGTCCTCGTGGCCCCCCCCTGCCC TGTCCTCGCCGCCCCCCCCGCCCTGTCCTCGCCGCCCCCCCGCCCTGTCC TCGCCCCCCCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316957	G G	GCGGGGGG others(89): Show GCGGGGGGGCGGCGAGGACAGGGCAGGGGGGGGCCACGAGGACAGGGCGG GGGGGGGGGCGGCGAGGACAGGGTGGGGGGGGCGGCGAGGACAGGGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	305	0.0033	96	c.453 others(111): Show c.453+335_453+336insACCCTGTCCTCGCCGCCCCCCCCACCCTGT CCTCGCCGCCCCCCCCCCCGCCCTGTCCTCGTGGCCCCCCCCTGCCCTGT CCTCGCCGCCCCCCCG	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DGAT1_chr8_144309584_144331852	144313650	C C	CCGCCTCC others(89): Show CCGCCTCCCCGCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCACCGCCT CCCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCACCGCCTCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01934.hp1 HG02004.hp2 others(1): Show HG01346.hp1 HG01934.hp1 HG02004.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	155	0.0258	96	c.29 others(107): Show c.2903_*2904insCGGGGAGGCGGTGCGGGGAGGCGGGGAGGCGGTG CGGGGAGGCGGGGAGGCGGTGCGGGGAGGCGGTGCGGGGAGGCGGGGAGG CGCGGGGAGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		933		chr8	TogoVar
DGAT1_chr8_144309584_144331852	144313650	C C	CCGCCTCC others(89): Show CCGCCTCCCCGCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCACCGCCT CCCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00558.hp2 others(23): Show HG00280.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG01433.hp2 HG01952.hp1 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG03490.hp2 NA18747.hp2 NA18943.hp1 NA18945.hp2 NA18956.hp1 NA18960.hp1 NA18973.hp1 NA18981.hp1 NA18983.hp2 NA18995.hp1 NA19004.hp2 NA19009.hp1 NA19011.hp2 NA19056.hp2 NA19079.hp2 NA19081.hp2 NA19089.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0007 a0008c0014 a0001c0001 a0004c0007 a0008c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0004c0007t0001 a0008c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0002g0002 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0002g0002 a0001c0001t0003g0005 a0004c0007t0001g0050 a0008c0014t0001g0075	26	177	0.1469	96	c.29 others(107): Show c.2903_*2904insCGGGGAGGCGGGGCGGGGAGGCGGGGAGGCGGTG CGGGGAGGCGGGGAGGCGGTGCGGGGAGGCGGTGCGGGGAGGCGGGGAGG CGCGGGGAGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		933		chr8	TogoVar
DHRSX_chrX_2214506_2505976	2363720	G G	GTCCTATG others(89): Show GTCCTATGGTATCATGCCGCCATTTTATCACCGTTCTATGGTATCATGCT TCCATTTTATCACCGTTCTATGATATCATGCTGCCATTTTATCACCA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0006 a0003c0003t0005g0006	1	48	0.0208	96	c.286 others(115): Show c.286+45024_286+45025insTGGTGATAAAATGGCAGCATGATATC ATAGAACGGTGATAAAATGGAAGCATGATACCATAGAACGGTGATAAAAT GGCGGCATGATACCATAGGA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97586326	A A	AAATTTTA others(89): Show AAATTTTAGAGTGATCTTGGACTCCTTTTCTTTAATTTTAGAGTGATCTT GGACTCCTTTTCTTTAATTTTAGAGTGATCTTGGACTCCTTTTCTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0086 a0001c0001t0016g0086	1	144	0.0069	96	c.324 others(117): Show c.3242-12863_3242-12862insAATTTTAGAGTGATCTTGGACTCC TTTTCTTTAATTTTAGAGTGATCTTGGACTCCTTTTCTTTAATTTTAGAG TGATCTTGGACTCCTTTTCTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	26/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIP2B_chr12_50499985_50753657	50505001	T T	TGGCGGCG others(89): Show TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0099 a0001c0001t0019g0099	1	245	0.0041	96	c.-11 others(105): Show c.-117_-116insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCGGCGGCGG	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/38	116	INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	321934	C C	CGAGAGGC others(89): Show CGAGAGGCCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGTCTAGTG AGAGGCCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGTCTAGT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	81	0.0123	96	c.392 others(115): Show c.3924+5071_3924+5072insACTAGACCCCGCACCCCCGACTGACT GTTCTAACAGCGCCGGCCTCTCACTAGACCCCGCACCCCCGACTGACTGT TCTAACAACGCCGGCCTCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar

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