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
CSMD1_chr8_2930361_4999914	4312386	T T	TATATACA others(87): Show TATATACACACGTATATATATACGTATATACCTGTATATATACGTATATA TATACGTATATACGTACGCATATATATATACGCATATATATACGC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0027 a0027	a0027c0110 a0027c0110	a0027c0110t0074 a0027c0110t0074	a0027c0110t0074g0082 a0027c0110t0074g0082	1	126	0.0079	94	c.415 others(115): Show c.415+107566_415+107567insGCGTATATATATGCGTATATATAT ATGCGTACGTATATACGTATATATATACGTATATATACAGGTATATACGT ATATATATACGTGTGTATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4312386	T T	TATATACA others(87): Show TATATACACACGTATATATATACGTATATACCTGTATATATACGTATATA TATACGTATATACGTACGCATATATATATACGTATATATATACGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp1 HG03195.hp1 others(4): Show HG02451.hp2 HG02622.hp1 HG03195.hp1 HG03516.hp2 HG03579.hp1 HG06807.hp2 NA19043.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0016 a0030	a0001c0050 a0001c0068 a0002c0030 others(4): Show a0001c0050 a0001c0068 a0002c0030 a0002c0054 a0007c0116 a0016c0028 a0030c0106	a0001c0050t0053 a0001c0068t0015 a0002c0030t0016 others(4): Show a0001c0050t0053 a0001c0068t0015 a0002c0030t0016 a0002c0054t0079 a0007c0116t0004 a0016c0028t0024 a0030c0106t0012	a0001c0050t0053g0120 a0001c0068t0015g0049 a0002c0030t0016g0122 others(4): Show a0001c0050t0053g0120 a0001c0068t0015g0049 a0002c0030t0016g0122 a0002c0054t0079g0096 a0007c0116t0004g0039 a0016c0028t0024g0040 a0030c0106t0012g0042	7	126	0.0556	94	c.415 others(115): Show c.415+107566_415+107567insGCGTATATATATACGTATATATAT ATGCGTACGTATATACGTATATATATACGTATATATACAGGTATATACGT ATATATATACGTGTGTATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4312387	A A	ATATACAC others(87): Show ATATACACACGTATATATATACGTATATACCTGTATATATACGTATATAT ATACGTATATACGTACGCATATATATATACGTATATATATACGCG	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA20129.hp1 HG02258.hp1 NA20129.hp1	a0001 a0039 a0001 a0039	a0001c0114 a0039c0010 a0001c0114 a0039c0010	a0001c0114t0003 a0039c0010t0070 a0001c0114t0003 a0039c0010t0070	a0001c0114t0003g0119 a0039c0010t0070g0084 a0001c0114t0003g0119 a0039c0010t0070g0084	2	126	0.0159	94	c.415 others(115): Show c.415+107565_415+107566insCGCGTATATATATACGTATATATA TATGCGTACGTATATACGTATATATATACGTATATATACAGGTATATACG TATATATATACGTGTGTATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSNK1G2_chr19_1936172_1986338	1968199	C C	CCCAGGCT others(87): Show CCCAGGCTGCCCCTGACCACCCTTCAGTTCTGCAGGTGGGGGCTCCTCCC TCCTCCCCAGGCTGCCCCGACCACCCTTCAGTTCTGCAGGTGGGG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp2 HG02738.hp2 others(14): Show HG02683.hp1 HG02683.hp2 HG02738.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 NA18747.hp1 NA18941.hp1 NA18947.hp1 NA18952.hp2 NA18979.hp2 NA18990.hp1 NA18995.hp2 NA19003.hp2 NA19066.hp1 NA19083.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0116 others(14): Show a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0176 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0218	17	382	0.0445	94	c.-26 others(113): Show c.-265-1308_-265-1307insCAGGCTGCCCCTGACCACCCTTCAGT TCTGCAGGTGGGGGCTCCTCCCTCCTCCCCAGGCTGCCCCGACCACCCTT CAGTTCTGCAGGTGGGGC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSPP1_chr8_67059392_67201614	67159982	T T	TTTCTTTC others(87): Show TTTCTTTCCTTCCTTCCTTCCTTCTCTTTCTTTCTTTCTTTTCTTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0127 a0002c0002t0002g0127	1	158	0.0063	94	c.253 others(111): Show c.2538+847_2538+848insCTTTCCTTCCTTCCTTCCTTCTCTTTCT TTCTTTCTTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCTT	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CST8_chr20_23486117_23501010	23490163	T T	TATATATA others(87): Show TATATATATAATATATATATTAATAATATATATATAAATTATATATATAT TAATTATATATATAATATATATATAAATTATATATATATTAATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19007.hp1 NA19004.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	440	0.0046	94	c.-13 others(105): Show c.-1323_-1322insATATATATAATATATATATTAATAATATATATAT AAATTATATATATATTAATTATATATATAATATATATATAAATTATATAT ATATTAATTA	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		953		chr20	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATATTA others(87): Show ATATATTATATATTATATGTATATTATGTATACATAATATATTATATATT ATATGTATATTATGTATACATAATATTTATATATTATATGTATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG03516.hp2 HG03540.hp2 HG01257.hp1 HG03516.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0223 a0001c0001t0003g0230 a0002c0002t0002g0080 a0001c0001t0003g0223 a0001c0001t0003g0230 a0002c0002t0002g0080	3	344	0.0087	94	c.896 others(111): Show c.896+3642_896+3643insATATACATATAATATATAAATATTATGT ATACATAATATACATATAATATATAATATATTATGTATACATAATATACA TATAATATATAATATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATATTA others(87): Show ATATATTATATATTATATGTATATTATGTATACATAATATTTATATATTA TATGTATATTATGTATACATAATATATTATATATTATATGTATAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18954.hp1 NA18974.hp1 others(4): Show NA18950.hp2 NA18954.hp1 NA18974.hp1 NA18989.hp1 NA19005.hp1 NA19006.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0058 a0002c0002t0002g0084 a0002c0002t0002g0004 a0002c0002t0002g0058 a0002c0002t0002g0084	7	344	0.0204	94	c.896 others(111): Show c.896+3642_896+3643insATATACATATAATATATAATATATTATG TATACATAATATACATATAATATATAAATATTATGTATACATAATATACA TATAATATATAATATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CUX2_chr12_111029165_111355554	111257478	C C	CCTCCTCC others(87): Show CCTCCTCCCACTTCTTCCTCCCCCTCCCACTTCTTCCTCCCCCTCCCACT TCTTCCTCCCCCTCCCACTTCTTCCTCCCCCTCCCACTTCTTCCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03139.hp1 NA20300.hp1 HG02280.hp2 HG03139.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0003t0001 a0001c0004t0006 a0001c0002t0001 a0001c0003t0001 a0001c0004t0006	a0001c0002t0001g0061 a0001c0003t0001g0046 a0001c0004t0006g0075 a0001c0002t0001g0061 a0001c0003t0001g0046 a0001c0004t0006g0075	3	100	0.0300	94	c.223 others(111): Show c.223-6282_223-6281insTCCTCCCACTTCTTCCTCCCCCTCCCAC TTCTTCCTCCCCCTCCCACTTCTTCCTCCCCCTCCCACTTCTTCCTCCCC CTCCCACTTCTTCCTC	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CXorf51B_chrX_146804771_146815411	146812194	C C	CATGTGTA others(87): Show CATGTGTATATATGTATATATATATACGTATATACACATGTGTATATATG TACATATATGTGTGTATATGTGTGTATATACATATATGTGTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	272	0.0037	94	c.18 others(105): Show c.1886_*1887insATGTGTATATATGTATATATATATACGTATATAC ACATGTGTATATATGTACATATATGTGTGTATATGTGTGTATATACATAT ATGTGTATAT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1784		chrX	TogoVar
CYLC1_chrX_83856146_83891698	83878372	T T	TATATATA others(87): Show TATATATAAATATATATATAAATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATAAATATATATAAATATATATATAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	208	0.0048	94	c.192 others(113): Show c.1923+3748_1923+3749insAATATATATATAAATATATATAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATAAA TATATATATAAATATATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYLC1_chrX_83856146_83891698	83878424	T T	TATATATA others(87): Show TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA AATATATATATAAATATATATAAATATATATAAATATATATATAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	208	0.0048	94	c.192 others(113): Show c.1923+3800_1923+3801insAATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYLC1_chrX_83856146_83891698	83878434	A A	AATATATA others(87): Show AATATATATAAATATATATAAATATATATAAATATATATAAATATATATA AATATATATATAAATATATATAAATATATATAAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	208	0.0048	94	c.192 others(113): Show c.1923+3842_1923+3843insAATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATAAATATATATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYP4F12_chr19_15668087_15702174	15677444	C C	CCACACTC others(87): Show CCACACTCATTCCTCTCCTCACTAATTCCAATACCAACTCACTCATTCCT CTCCTCACATACTCATTCCTCTACCCATTCACTCATTCCTCTCCT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	410	0.0024	94	c.199 others(109): Show c.199-814_199-813insACTCATTCCTCTCCTCACTAATTCCAATAC CAACTCACTCATTCCTCTCCTCACATACTCATTCCTCTACCCATTCACTC ATTCCTCTCCTCAC	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYRIB_chr8_129834593_130021560	130006596	A A	ATATATAT others(87): Show ATATATATATATATATACACACACATATATATGTATATATATATATATAT GTGTATATATATACATATATGTGTATATATATACATATATATGTG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0260 a0001c0001t0003g0260	1	288	0.0035	94	c.-19 others(113): Show c.-190+9773_-190+9774insCACATATATATGTATATATATACACA TATATGTATATATATACACATATATATATATATATACATATATATGTGTG TGTATATATATATATATA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	1/13			chr8	TogoVar
CYSLTR1_chrX_78266468_78332611	78269394	T T	TATAGAAT others(87): Show TATAGAATATATATTATATATAATATATATAAATATGGAATATATATTAT ATATAATATATATAAATATGGAACATATATTATATATTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG02922.hp1 HG03195.hp1 HG00280.hp1 HG02922.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0002 a0001c0001t0001g0155 a0001c0001t0001g0156	3	240	0.0125	94	c.33 others(105): Show c.3338_*3339insTATATATAATATATAATATATGTTCCATATTTAT ATATATTATATATAATATATATTCCATATTTATATATATTATATATAATA TATATTCTAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2073		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78269394	T T	TATATAGA others(87): Show TATATAGAATATATATTATATATTATATATAAATATGGAATATATATTAT ATATAATATATATAAATATGGAACATATATTATATATTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	240	0.0042	94	c.33 others(105): Show c.3338_*3339insTATATATAATATATAATATATGTTCCATATTTAT ATATATTATATATAATATATATTCCATATTTATATATAATATATAATATA TATTCTATAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2073		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78269436	T T	TATATATT others(87): Show TATATATTATATATAATATATATAAATATGGAAACATATATTATATATTA TATATAATATAGATATATATTATATATAATATATATAAATATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0124 a0001c0001t0005g0124	1	240	0.0042	94	c.32 others(105): Show c.3296_*3297insTCCATATTTATATATATTATATATAATATATATC TATATTATATATAATATATAATATATGTTTCCATATTTATATATATTATA TATAATATAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2031		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78269436	T T	TATATATT others(87): Show TATATATTATATATAATATATATAAATATGGAACATATATTATATATTAT ATATAATATAGAATATATATTATATATAATATATATAAATATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(109): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01169.hp2 HG01192.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01517.hp1 HG01884.hp2 HG01975.hp1 HG01981.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02895.hp1 HG02896.hp2 HG03017.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18906.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18981.hp1 NA18982.hp1 NA18986.hp1 NA18987.hp2 NA18991.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19083.hp1 NA19084.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(89): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0076 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0003g0023 a0001c0001t0008g0158 a0001c0001t0010g0177 a0001c0005t0001g0116	112	240	0.4667	94	c.32 others(105): Show c.3296_*3297insTCCATATTTATATATATTATATATAATATATATT CTATATTATATATAATATATAATATATGTTCCATATTTATATATATTATA TATAATATAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2031		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78269436	T T	TATATATT others(87): Show TATATATTATATATAATATATATAAATATGGAACATATATTATATATTAT ATATGATATAGAATATATATTATATATAATATATATAAATATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	240	0.0042	94	c.32 others(105): Show c.3296_*3297insTCCATATTTATATATATTATATATAATATATATT CTATATCATATATAATATATAATATATGTTCCATATTTATATATATTATA TATAATATAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2031		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78269436	T T	TATATATT others(87): Show TATATATTATATATAATATATATAAATATGGAACATATATTCTATATTAT ATATAATATAGAATATATATTATATATAATATATATAAATATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02896.hp1 HG01243.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0022 a0001c0001t0003g0024	2	240	0.0083	94	c.32 others(105): Show c.3296_*3297insTCCATATTTATATATATTATATATAATATATATT CTATATTATATATAATATAGAATATATGTTCCATATTTATATATATTATA TATAATATAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2031		chrX	TogoVar
DCDC1_chr11_30858603_31374739	31250415	C C	CACACACA others(87): Show CACACACATATATATATATATATATATATATATATATATATATATATACA TATATATATATATATATATATATATATATATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	152	0.0066	94	c.105 others(113): Show c.1055-8800_1055-8799insATATATGTATATATATATATATATAT ATATATATATATATATATATGTATATATATATATATATATATATATATAT ATATATATATATGTGTGT	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	8/38			chr11	TogoVar
DCDC2_chr6_24166755_24363059	24220873	A A	AGAGACAG others(87): Show AGAGACAGAGAGCAAGAGAGCGAGAGCGAGAGAGTGAGCGAGCGAGCGAG AGAGTGAGCGAGCGAGCGAGAGAGTGAGCGAGCGAGCGAGAGAGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp1 HG02976.hp1 others(3): Show HG02145.hp2 HG02280.hp1 HG02976.hp1 HG03225.hp1 HG03453.hp2 NA19240.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0014 a0002c0002t0035 a0002c0002t0038 others(2): Show a0002c0002t0014 a0002c0002t0035 a0002c0002t0038 a0003c0003t0002 a0003c0003t0005	a0002c0002t0014g0010 a0002c0002t0035g0009 a0002c0002t0038g0180 others(3): Show a0002c0002t0014g0010 a0002c0002t0035g0009 a0002c0002t0038g0180 a0003c0003t0002g0006 a0003c0003t0002g0151 a0003c0003t0005g0150	6	216	0.0278	94	c.923 others(113): Show c.923-15772_923-15771insACTCTCTCGCTCGCTCGCTCACTCTC TCGCTCGCTCGCTCACTCTCTCGCTCGCTCGCTCACTCTCTCGCTCTCGC TCTCTTGCTCTCTGTCTC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCDC2_chr6_24166755_24363059	24359352	T T	TTATATAT others(87): Show TTATATATATATTATATATATTTTATATATTATATATTATATATATTTTA TATATTATATATTATATATATTTTATATATTATATATTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0146 a0002c0002t0001g0146	1	216	0.0046	94	c.-16 others(105): Show c.-1603_-1602insTATATATAATATATAATATATAAAATATATATAA TATATAATATATAAAATATATATAATATATAATATATAAAATATATATAA TATATATATA	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding		1294		chr6	TogoVar
DCLK1_chr13_35763652_36136382	35826540	A A	AGGAAGGA others(87): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02257.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0038 a0001c0001t0005 a0001c0001t0038	a0001c0001t0005g0214 a0001c0001t0038g0044 a0001c0001t0005g0214 a0001c0001t0038g0044	2	230	0.0087	94	c.140 others(113): Show c.1407+1094_1407+1095insCCTTCCTTCCTTCCTTCCTTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCC	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	10/16			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35826540	A A	AGGAAGGA others(87): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0229 a0001c0003t0005g0229	1	230	0.0044	94	c.140 others(113): Show c.1407+1094_1407+1095insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCC	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	10/16			chr13	TogoVar
DCLK2_chr4_150073445_150262438	150239917	G G	GAGAAAGG others(87): Show GAGAAAGGTCTGTTTTGTTGCTATTGCTGCTTGTGTATACAGTTGGTAAG AAAGGTCTGTTTTGTTGCTATTGCTGCTTGTGTATACAGTTGGTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00609.hp1 others(14): Show HG00140.hp2 HG00544.hp1 HG00609.hp1 HG01175.hp1 HG01255.hp2 HG01952.hp2 HG02027.hp2 HG02129.hp2 HG02132.hp1 HG02273.hp1 HG03490.hp2 HG04204.hp1 NA18612.hp1 NA18971.hp1 NA18983.hp2 NA19064.hp1 NA20905.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0003c0004 a0005c0009 others(1): Show a0001c0001 a0003c0004 a0005c0009 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0003c0004t0001 a0005c0009t0009 a0006c0012t0001	a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0089 others(14): Show a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0002g0092 a0001c0001t0003g0093 a0001c0001t0009g0076 a0001c0001t0010g0080 a0001c0001t0010g0086 a0003c0004t0001g0049 a0003c0004t0001g0088 a0005c0009t0009g0077 a0006c0012t0001g0081	17	116	0.1466	94	c.170 others(110): Show c.1700+85_1700+178dupTGGTAAGAAAGGTCTGTTTTGTTGCTATT GCTGCTTGTGTATACAGTTGGTAAGAAAGGTCTGTTTTGTTGCTATTGCT GCTTGTGTATACAGT	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCLK2_chr4_150073445_150262438	150250933	A A	ACCCCCAC others(87): Show ACCCCCACACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCC CCCACACCCCCACACATCCCCCACACCCCCCACACCCCCCACAAC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	116	0.0086	94	c.207 others(113): Show c.2073+1258_2073+1259insATCCCCCACACCCCCCACATCCCCCA CACCCCCCACATCCCCCACACCCCCACACATCCCCCACACCCCCCACACC CCCCACAACCCCCCACAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DDX60_chr4_168211294_168323752	168297382	G G	GAAAGAAA others(87): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03209.hp2 HG03139.hp2 HG03209.hp2	a0003 a0013 a0003 a0013	a0003c0004 a0013c0020 a0003c0004 a0013c0020	a0003c0004t0001 a0013c0020t0001 a0003c0004t0001 a0013c0020t0001	a0003c0004t0001g0051 a0013c0020t0001g0212 a0003c0004t0001g0051 a0013c0020t0001g0212	2	270	0.0074	94	c.724 others(111): Show c.724-3438_724-3437insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	6/37			chr4	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(87): Show CGGGGGGGCGGCGAGGACAGGGCGGGGGGGCGGCGAGGACAGGGCAGGGG GGGGCACGAGGACAGGGCGGGGGGGGGGGCGGCGAGGACAGGGTG	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0002 a0017c0019t0002	a0017c0019t0002g0043 a0017c0019t0002g0043	1	326	0.0031	94	c.453 others(109): Show c.453+356_453+357insCACCCTGTCCTCGCCGCCCCCCCCCCCGCC CTGTCCTCGTGCCCCCCCCTGCCCTGTCCTCGCCGCCCCCCCGCCCTGTC CTCGCCGCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(87): Show CGGGGGGGCGGCGAGGACAGGGCGGGGGGGCGGCGAGGACAGGGCAGGGG GGGGCCACGAGGACAGGGCGGGGGGGGGGCGGCGAGGACAGGGTG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02015.hp1 HG02818.hp1 HG02004.hp2 HG02015.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0040 a0001c0009t0002 a0001c0001t0040 a0001c0009t0002	a0001c0001t0040g0066 a0001c0009t0002g0062 a0001c0009t0002g0080 a0001c0001t0040g0066 a0001c0009t0002g0062 a0001c0009t0002g0080	3	326	0.0092	94	c.453 others(109): Show c.453+356_453+357insCACCCTGTCCTCGCCGCCCCCCCCCCGCCC TGTCCTCGTGGCCCCCCCCTGCCCTGTCCTCGCCGCCCCCCCGCCCTGTC CTCGCCGCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316936	C C	CGGGGGGG others(87): Show CGGGGGGGGGGGGCGAGGACAGGGCGGGGGGGCGGCGAGGACAGGGCGGG GGGGCGGCGAGGACAGGGCAGGGGGGGGCCACGAGGACAGGGTGG	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA20905.hp2 HG03239.hp1 NA20905.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0243 a0002c0008t0001g0257 a0002c0008t0001g0243 a0002c0008t0001g0257	2	326	0.0061	94	c.453 others(109): Show c.453+356_453+357insCCACCCTGTCCTCGTGGCCCCCCCCTGCCC TGTCCTCGCCGCCCCCCCGCCCTGTCCTCGCCGCCCCCCCGCCCTGTCCT CGCCCCCCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DEPDC1B_chr5_60591912_60705166	60667360	T T	TAAAATGG others(87): Show TAAAATGGATATTTTACATATATACAAAAAATGGATATTTTACATATATA CAAAAATGGATATTTTACATATATGGATATTTTACATATATACAA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	292	0.0034	94	c.314 others(113): Show c.314+19601_314+19602insTTGTATATATGTAAAATATCCATATA TGTAAAATATCCATTTTTGTATATATGTAAAATATCCATTTTTTGTATAT ATGTAAAATATCCATTTT	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DGKD_chr2_233349494_233477098	233397045	T T	TCCAGAGG others(87): Show TCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGCGCCAGAGTGAGAGGACT CCAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAGTGAGAGGACA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0124 a0001c0002t0003g0124	1	336	0.0030	94	c.348 others(111): Show c.348+6585_348+6586insGGGGGGGGCGCCAGAGTGAGAGGACTCC AGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAGTGAGAGGACACCAGAGG GGACCAGGGTGGCTGG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233397403	C C	CCAGAGTG others(87): Show CCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGCCA GAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGAGGGGGGCAG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	336	0.0030	94	c.348 others(111): Show c.348+6958_348+6959insGGGGGGGGCCAGAGCGAGAGGACACCAG AGGGGACCAGGGTGGCTGAGGGGGGCAGCAGAGTGAGAGGACTCCAGAGG GGACCAGGGTGGCTGG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKI_chr7_137376037_137851974	137472306	G G	GTATATAC others(87): Show GTATATACATATAATATAATATGTATATACATATAATAATTATATGTATA TACATTAAATATTATATGTATATATACATATAATTATTATATGTA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0041 a0001c0003t0006g0041	1	94	0.0106	94	c.237 others(113): Show c.2374-2688_2374-2687insTACATATAATAATTATATGTATATAT ACATATAATATTTAATGTATATACATATAATTATTATATGTATATACATA TTATATTATATGTATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	23/32			chr7	TogoVar
DHRS12_chr13_51762993_51809163	51775719	T T	TCTCCTAC others(87): Show TCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAT GTATTCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02965.hp2 HG03139.hp2 HG02630.hp1 HG02965.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132	3	420	0.0071	94	c.363 others(111): Show c.363+1340_363+1341insGAGAATACTGTAGGAGAATACATGTAGG AGAATACTGTAGAATACATGTAGGAGAATACTGTAGGAGAATACATGTAG GAGAATACTGTAGGAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DIP2C_chr10_269201_694668	516621	G G	GTAAGGTG others(87): Show GTAAGGTGGACAGTGGGACAGGGGAAGGGGGTAAGGGGGGGACAGGGGGT AGGGTGGGAGGGGGGACGGGGTAGGGTGGGAGGGGGGACGGGGTA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0082 a0001c0002t0003g0082	1	88	0.0114	94	c.86- others(111): Show c.86-30092_86-30091insTACCCCGTCCCCCCTCCCACCCTACCCC GTCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTTACCCCCTTCCCCTGT CCCACTGTCCACCTTA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK1A_chr1_92837167_92966462	92846848	T T	TATATATA others(87): Show TATATATATATATATATATATATATATGTGTGTATATATATATATATATA CACACACACGTATATATATATATACACACACGTATATATATATAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	200	0.0050	94	c.474 others(109): Show c.474+334_474+335insGTATATATATATACGTGTGTGTATATATAT ATATACGTGTGTGTGTATATATATATATATATACACACATATATATATAT ATATATATATATAT	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	4/4			chr1	TogoVar
DLGAP2_chr8_732628_1713476	1417651	C C	CCACTCCT others(87): Show CCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGGCACGGGGAGGCCTCA CTCCTGCCTCACTCAGCGAGGCTCCAGGGGGGCACGGGGAGGCCT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	40	0.0250	94	c.107 others(113): Show c.107-83699_107-83698insAGCGAGGCTCCAGGGGGGCACGGGGA GGCCTCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGGCACGGGGAGGC CTCACTCCTGCCTCACTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1417651	C C	CCACTCCT others(87): Show CCACTCCTGCCTCACTCGGCGAGGCTCCAGGGGGGCACGGGGAGGCCTCA CTCCTGCCTCACTCAGCGAGGCTCCAGGGGGGCACGGGGAGGCCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp1 HG02074.hp2 others(1): Show HG00639.hp1 HG01361.hp1 HG02074.hp2 HG03492.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0002c0001t0001	a0001c0002t0001g0019 a0001c0002t0002g0021 a0001c0002t0009g0039 others(1): Show a0001c0002t0001g0019 a0001c0002t0002g0021 a0001c0002t0009g0039 a0002c0001t0001g0018	4	40	0.1000	94	c.107 others(113): Show c.107-83699_107-83698insGGCGAGGCTCCAGGGGGGCACGGGGA GGCCTCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGGCACGGGGAGGC CTCACTCCTGCCTCACTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1449802	C C	CGTGAAGA others(87): Show CGTGAAGACGAGGTGGGCGTCCTCGGTGGCTGAGGCGGAGCTGTGAGGGT GAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCTGAGCTGTGAGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	94	c.107 others(113): Show c.107-51546_107-51545insTCCTCGGTGGCTGAGGCGGAGCTGTG AGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCTGAGCTGTGAGG GTGAAGACGAGGTGGGCG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1449841	A A	AGCGGAGC others(87): Show AGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGC GGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGACTGAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp1 HG01361.hp1 HG00639.hp1 HG01071.hp1 HG01361.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0001c0002t0001 a0001c0003t0001 a0002c0001t0001	a0001c0002t0001g0019 a0001c0003t0001g0025 a0002c0001t0001g0018 a0001c0002t0001g0019 a0001c0003t0001g0025 a0002c0001t0001g0018	3	40	0.0750	94	c.107 others(113): Show c.107-51437_107-51436insACTGAGGCGGAGCTGTGAGGGTGAAG ACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACG AGGTGGGCGGCCTCGGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1449938	G G	GGAGCTGT others(87): Show GGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTCGGGCGGA GCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0038 a0003c0007t0007g0038	1	40	0.0250	94	c.107 others(113): Show c.107-51390_107-51389insGCTCGGGCGGAGCTGTGAGGGTGAAG ACGAGGTGGGCGGCCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACG AGGTGGGCGGCCTCGGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1449968	G G	GCCCCGGT others(87): Show GCCCCGGTGGCTCGGGCAGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCC TCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	94	c.107 others(113): Show c.107-51396_107-51395insCCGGTGGCTCGGGCAGAGCTGTGAGG GTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTG AAGACGAGGTGGGCGTCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1449985	G G	GGAGCTGT others(87): Show GGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGA GCTGTGAGGGTGAAGACGAGGTGGGCGGCCCCGGTGGCTCGGGCA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0003 a0001c0003t0024g0003	1	40	0.0250	94	c.107 others(113): Show c.107-51350_107-51349insCTCGGTGGCTGAGGCGGAGCTGTGAG GGTGAAGACGAGGTGGGCGGCCCCGGTGGCTCGGGCAGAGCTGTGAGGGT GAAGACGAGGTGGGCGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1450273	G G	GGAGCTGT others(87): Show GGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCTGA GCTGTGAGGGTGAAGACGAGGTGGGCGGTCTCGGTGGCTGAGGCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0008 a0002c0010t0008	a0002c0010t0008g0040 a0002c0010t0008g0040	1	40	0.0250	94	c.107 others(113): Show c.107-51047_107-51046insTGAGCTGTGAGGGTGAAGACGAGGTG GGCGGTCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACGAGGTGGGC GGCCTCGGTGGCTGAGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1450442	C C	CGGCCTCG others(87): Show CGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGG CCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA20300.hp1 HG01891.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0024 a0001c0003t0013 a0001c0003t0024	a0001c0003t0013g0007 a0001c0003t0024g0003 a0001c0003t0013g0007 a0001c0003t0024g0003	2	40	0.0500	94	c.107 others(113): Show c.107-50910_107-50909insAGGCGGAGCTGTGAGGGTGAAGACGA GGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGT GGGTGGCCTCGGTGGCTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1643208	G G	GACCCCGC others(87): Show GACCCCGCCGGTCCTCACCTGTGTCACCCTCCAACCCGCCGGTCCTCACC TGTGTCACCCTCGACCCCCGCCGGTCCTCACCTGTGTCACCCTCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0009 a0002c0004t0003g0009	1	40	0.0250	94	c.181 others(115): Show c.1810+10163_1810+10164insCCCCGCCGGTCCTCACCTGTGTCA CCCTCCAACCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCCGCCGGTC CTCACCTGTGTCACCCTCCA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAAF3_chr19_55153665_55171613	55153733	A A	AAAAAAAA others(87): Show AAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGA TTACAGGCATAAGCAACTGCACCTGGACAGCAGAGACTCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG03491.hp1 NA18941.hp1 HG02897.hp2 HG03491.hp1 NA18941.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0109 a0002c0003t0001g0049 a0001c0001t0001g0003 a0001c0001t0001g0109 a0002c0003t0001g0049	3	398	0.0075	94	c.53 others(105): Show c.5328_*5329insGAGATGGAGTCTCTGCTGTCCAGGTGCAGTTGCT TATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTTAATTTCCTTT TTTTTTTTTT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4931		chr19	TogoVar

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