Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CSF2RA_chrX_1263814_1314935	1314526	TCCCACTG others(50): Show TCCCACTGCACCTGCCCAATCCCACTGCACCTGCCCAATCCCACTGCACC TGCCCAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG02559.hp2 HG01978.hp1 HG02559.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0005 a0001c0001t0002 a0002c0004t0005	a0001c0001t0002g0084 a0002c0004t0005g0127 a0001c0001t0002g0084 a0002c0004t0005g0127	2	159	0.0126	-57	c.50 others(68): Show c.5048_*5104delCCCACTGCACCTGCCCAATCCCACTGCACCTGCC CAATCCCACTGCACCTGCCCAAC		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding					4592		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314603	CCCACTGC others(50): Show CCCACTGCACCTGCCCAACCACACTGAACCTGCTCAACCCCACTTCACCT GCCCAACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	159	0.0063	-57	c.51 others(68): Show c.5125_*5181delCCACTGCACCTGCCCAACCACACTGAACCTGCTC AACCCCACTTCACCTGCCCAACT		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding					4669		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314630	ACCTGCTC others(50): Show ACCTGCTCAACCCCACTTCACCTGCCCAACTGCACTGCACTTGCCCAACC CCTCTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG02922.hp1 HG01978.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0121 a0001c0001t0002g0061 a0001c0001t0001g0121 a0001c0001t0002g0061	2	159	0.0126	-57	c.51 others(68): Show c.5152_*5208delCCTGCTCAACCCCACTTCACCTGCCCAACTGCAC TGCACTTGCCCAACCCCTCTGTG		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding					4696		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314697	CCCCACTG others(50): Show CCCCACTGTGCCTGCCCAATCGCACTGCACCTGCCCAATCCCACTGCACC TGCCCAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	159	0.0063	-57	c.52 others(68): Show c.5219_*5275delCCCACTGTGCCTGCCCAATCGCACTGCACCTGCC CAATCCCACTGCACCTGCCCAAT		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding					4763		chrX	TogoVar
CSMD1_chr8_2930361_4999914	3929747	AGCCTCCT others(50): Show AGCCTCCTGGATACAAGCAATTCTCCTGTCTCAGCCTCCTGAGTAGCTGG GACTACAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0005 a0005	a0005c0064 a0005c0064	a0005c0064t0051 a0005c0064t0051	a0005c0064t0051g0078 a0005c0064t0051g0078	1	126	0.0079	-57	c.818 others(76): Show c.818+68099_818+68155delCTGTAGTCCCAGCTACTCAGGAGGCT GAGACAGGAGAATTGCTTGTATCCAGGAGGC		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4920877	AAAAGAAA others(50): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0034 a0034	a0034c0055 a0034c0055	a0034c0055t0034 a0034c0055t0034	a0034c0055t0034g0047 a0034c0055t0034g0047	1	126	0.0079	-57	c.85+ others(74): Show c.85+73398_85+73454delCTCTCTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69						chr8	TogoVar
CSMD2_chr1_33508998_34170230	34102616	AACCATAT others(50): Show AACCATATCCCTGTAATCCGGCCATATCCCTGTAATCCAACCATATCCCT GTAATCCG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0002 a0008c0024t0002	a0008c0024t0002g0057 a0008c0024t0002g0057	1	66	0.0152	-57	c.188 others(76): Show c.188-13480_188-13424delCGGATTACAGGGATATGGTTGGATTA CAGGGATATGGCCGGATTACAGGGATATGGT		CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	1/70						chr1	TogoVar
CSMD3_chr8_112217928_113441939	113064041	CGCCTAAA others(50): Show CGCCTAAAATTCATTGCTTAAACTATACTATTTATTATAGTTACAATGAC AGAAACTT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	80	0.0125	-57	c.917 others(76): Show c.917+34658_917+34714delAAGTTTCTGTCATTGTAACTATAATA AATAGTATAGTTTAAGCAATGAATTTTAGGC		CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	5/70						chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542633	TATATATG others(50): Show TATATATGTATATATATATATATATATATATATATATATGTATATATATA TATATATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	390	0.0026	-57	c.230 others(74): Show c.230+7385_230+7441delTATATATATATATATATACATATATATA TATATATATATATATATATATACATATAT		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9						chr5	TogoVar
CTCFL_chr20_57492166_57530140	57526017	GGGGGAAT others(50): Show GGGGGAATGGATAAGGAGGGGAGGAGGGCCTGCAAGGGGTGCTGGGAGAC TTGGGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03688.hp2 NA18995.hp1 others(3): Show HG03669.hp2 HG03688.hp2 NA18995.hp1 NA19005.hp1 NA19006.hp2 NA19077.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0002	a0001c0001t0001g0006 a0001c0001t0001g0096 a0001c0001t0001g0142 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0096 a0001c0001t0001g0142 a0003c0003t0002g0312	6	424	0.0142	-57	c.-10 others(68): Show c.-1058_-1002delTCCCCCAAGTCTCCCAGCACCCCTTGCAGGCCCT CCTCCCCTCCTTATCCATTCCCC		CTCFL	ENSG00000124092.13	transcript	ENST00000243914.8	protein_coding					878		chr20	TogoVar
CTCF_chr16_67557526_67644177	67622835	ATTTTTTA others(50): Show ATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAA CTCCTGAC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	168	0.0060	-57	c.135 others(76): Show c.1357+1245_1357+1301delTTTTTTAGTAGAGATGGGGTTTCACC ATGTTGGCCAGGCTGGTCTTGAACTCCTGAC		CTCF	ENSG00000102974.16	transcript	ENST00000264010.10	protein_coding	7/11						chr16	TogoVar
DAB1_chr1_56989778_57429060	57409905	GACAAGGA others(50): Show GACAAGGAATTAGAAAGTCCACCTCTCAACTACTCTCAAAAACTTCCTCC CCCACTGA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	138	0.0073	-57	c.-13 others(78): Show c.-137+13968_-137+14024delTCAGTGGGGGAGGAAGTTTTTGAG AGTAGTTGAGAGGTGGACTTTCTAATTCCTTGT		DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	1/14						chr1	TogoVar
DACT2_chr6_168301904_168324777	168321862	TCTCCTTC others(50): Show TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG01168.hp2 others(14): Show HG00323.hp1 HG00558.hp1 HG01168.hp2 HG01243.hp2 HG01256.hp1 HG01978.hp2 HG02004.hp1 HG02148.hp2 HG02300.hp2 HG03139.hp1 HG03831.hp2 HG06807.hp2 NA18941.hp1 NA18953.hp2 NA18957.hp1 NA18980.hp1 NA19080.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004	a0001c0001t0002 a0002c0002t0002 a0002c0002t0004 others(2): Show a0001c0001t0002 a0002c0002t0002 a0002c0002t0004 a0002c0003t0003 a0003c0004t0004	a0001c0001t0002g0006 a0001c0001t0002g0141 a0001c0001t0002g0151 others(8): Show a0001c0001t0002g0006 a0001c0001t0002g0141 a0001c0001t0002g0151 a0002c0002t0002g0166 a0002c0002t0004g0153 a0002c0003t0003g0007 a0002c0003t0003g0012 a0002c0003t0003g0024 a0002c0003t0003g0178 a0003c0004t0004g0025 a0003c0004t0004g0159	17	476	0.0357	-57	c.-22 others(68): Show c.-2286_-2230delGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAG		DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding					2086		chr6	TogoVar
DAW1_chr2_227866631_227929344	227876025	TTTTTTTT others(50): Show TTTTTTTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGTAGTGCAGTG GCATGATC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	340	0.0029	-57	c.40+ others(72): Show c.40+4299_40+4355delTTTTTTGAGATGGAGTCTAGCTCTGTCACC CAGGCTGTAGTGCAGTGGCATGATCTT		DAW1	ENSG00000123977.10	transcript	ENST00000309931.3	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC1_chr11_30858603_31374739	31230819	CCAAAGAA others(50): Show CCAAAGAAAACTGTTAAATTGGTTTTTAAAATCTATCCGGTGAGGTGAAA TACCAGAG	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18522.hp2 HG03098.hp2 NA18522.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0137 a0003c0004t0002g0141 a0003c0004t0002g0137 a0003c0004t0002g0141	2	152	0.0132	-57	c.122 others(78): Show c.1221+10574_1221+10630delCTCTGGTATTTCACCTCACCGGAT AGATTTTAAAAACCAATTTAACAGTTTTCTTTG		DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	9/38						chr11	TogoVar
DCLK1_chr13_35763652_36136382	35983819	CTGCAATC others(50): Show CTGCAATCTGGAAATCTGGGTTTGACTTGACCTCCTTGAACAGGAGACTG CACTGAAT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0159 a0001c0004t0009g0159	1	230	0.0044	-57	c.724 others(76): Show c.724-36419_724-36363delATTCAGTGCAGTCTCCTGTTCAAGGA GGTCAAGTCAAACCCAGATTTCCAGATTGCA		DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16						chr13	TogoVar
DDX60_chr4_168211294_168323752	168297269	AAAAGAAA others(50): Show AAAAGAAAGAAAGAAAGAGAGAGAGAGACGAAAGAAAGAAAGAAAGAAAG AAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	270	0.0037	-57	c.724 others(74): Show c.724-3381_724-3325delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CGTCTCTCTCTCTCTTTCTTTCTTTCTTT		DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	6/37						chr4	TogoVar
DDX60_chr4_168211294_168323752	168297349	AGAAAGAA others(50): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA AGAAAGAC	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0001 a0002c0023t0001	a0002c0023t0001g0185 a0002c0023t0001g0185	1	270	0.0037	-57	c.724 others(74): Show c.724-3461_724-3405delGTCTTTCTTTCTTTCTTTCTTTCTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTC		DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	6/37						chr4	TogoVar
DEAF1_chr11_639233_700222	663617	TCTCCTCA others(50): Show TCTCCTCAGCGACTGCCTCTGGACTGATAAATCAGGCTTTTGGCCTTTCC TCCTCCAA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18943.hp1 NA18951.hp1 others(4): Show HG02040.hp2 NA18943.hp1 NA18951.hp1 NA18959.hp1 NA18973.hp2 NA18995.hp2 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0222 others(4): Show a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0222 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0229 a0001c0002t0001g0230	7	345	0.0203	-57	c.150 others(76): Show c.1504-9623_1504-9567delTTGGAGGAGGAAAGGCCAAAAGCCTG ATTTATCAGTCCAGAGGCAGTCGCTGAGGAG		DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11						chr11	TogoVar
DENND2B_chr11_8688352_8815674	8689370	AAATATTC others(50): Show AAATATTCTAGAAGAACATAAAAGGAATTTCCTCTTAGGAGGTTAGGGAA ATGAGCAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0115 a0005c0005t0001g0115	1	352	0.0028	-57	c.46 others(68): Show c.4669_*4725delGTGCTCATTTCCCTAACCTCCTAAGAGGAAATTC CTTTTATGTTCTTCTAGAATATT		DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding					3981		chr11	TogoVar
DHRSX_chrX_2214506_2505976	2227784	GGAGGGGG others(50): Show GGAGGGGGGAAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGGAGAGAGG GAGGGAGA	G G	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	50	0.0200	-57	c.805 others(74): Show c.805-6612_805-6556delTCTCCCTCCCTCTCTCCCTCCCTCCCTC CCTCCCTTCCCTCCCTCCCTTCCCCCCTC		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6						chrX	TogoVar
DHRSX_chrX_2214506_2505976	2228031	AGGAAGGG others(50): Show AGGAAGGGGGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGAGGGGAAG GGAGGGAG	A A	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	50	0.0200	-57	c.805 others(74): Show c.805-6859_805-6803delCTCCCTCCCTTCCCCTCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTTCCCCCCTTCC		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6						chrX	TogoVar
DIP2B_chr12_50499985_50753657	50579635	AAAAAAAA others(50): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATATATAT ATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03516.hp2 HG03209.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0009 a0001c0001t0007g0006 a0001c0001t0007g0009	2	284	0.0070	-57	c.101 others(76): Show c.101-46339_101-46283delAAAAAAAAATATATATATATATATAT ATATATATATATATATATATATATATATATA		DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37					INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579637	AAAAAAAA others(50): Show AAAAAAAAATATATATATATATATATATATATATATATATATATATATAT ATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0008 a0001c0001t0007g0008	1	284	0.0035	-57	c.101 others(76): Show c.101-46337_101-46281delAAAAAAATATATATATATATATATAT ATATATATATATATATATATATATATATATA		DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37					INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579643	AAATATAT others(50): Show AAATATATATATATATATATATATATATATATATATATATATATATATAT ATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0077 a0001c0001t0025g0077	1	284	0.0035	-57	c.101 others(76): Show c.101-46331_101-46275delATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATA		DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37					INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579645	ATATATAT others(50): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01517.hp1 HG00099.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0006 a0001c0001t0011	a0001c0001t0006g0078 a0001c0001t0011g0079 a0001c0001t0006g0078 a0001c0001t0011g0079	2	284	0.0070	-57	c.101 others(76): Show c.101-46330_101-46274delTATATATATATATATATATATATATA TATATATATATATATATATATATATATATAT		DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37						chr12	TogoVar
DIP2C_chr10_269201_694668	455354	ACTGCAGT others(50): Show ACTGCAGTGAGTCCCTGCCTGAGGGGAGACCGTGAGGAGTAAATGAGATG AAAACACT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02165.hp2 HG01934.hp1 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0001 a0001c0001t0010 a0001c0002t0001	a0001c0001t0010g0020 a0001c0002t0001g0031 a0001c0001t0010g0020 a0001c0002t0001g0031	2	88	0.0227	-57	c.269 others(76): Show c.269-14415_269-14359delAGTGTTTTCATCTCATTTACTCCTCA CGGTCTCCCCTCAGGCAGGGACTCACTGCAG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36						chr10	TogoVar
DIP2C_chr10_269201_694668	455496	ACCGTGAG others(50): Show ACCGTGAGGAGCAAATGAGATGAAAACACTCTGCAGTGAGTCCCTGCCTG AGGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG00673.hp2 others(18): Show HG00597.hp2 HG00621.hp1 HG00673.hp2 HG01081.hp1 HG01099.hp1 HG01258.hp1 HG01258.hp2 HG01515.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02132.hp2 HG02155.hp1 HG02300.hp2 HG03942.hp2 NA18747.hp2 NA18962.hp1 NA19081.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0003t0002 a0001c0005t0002 a0001c0008t0001 a0001c0013t0002	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 others(18): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0079 a0001c0001t0003g0012 a0001c0001t0003g0075 a0001c0001t0003g0085 a0001c0001t0004g0015 a0001c0001t0005g0024 a0001c0003t0002g0021 a0001c0003t0002g0037 a0001c0005t0002g0016 a0001c0005t0002g0087 a0001c0008t0001g0018 a0001c0008t0001g0019 a0001c0013t0002g0035	21	88	0.2386	-57	c.269 others(76): Show c.269-14557_269-14501delCCTCCCCTCAGGCAGGGACTCACTGC AGAGTGTTTTCATCTCATTTGCTCCTCACGG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36						chr10	TogoVar
DIP2C_chr10_269201_694668	626696	CCCCTCTC others(50): Show CCCCTCTCACTGTTGCCCAGGAAGGATGGAACACCCCACGGTCACGCCGA TTGTCAGG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03130.hp2 HG02717.hp2 HG03130.hp2	a0001 a0001	a0001c0010 a0001c0016 a0001c0010 a0001c0016	a0001c0010t0002 a0001c0016t0009 a0001c0010t0002 a0001c0016t0009	a0001c0010t0002g0001 a0001c0016t0009g0073 a0001c0010t0002g0001 a0001c0016t0009g0073	2	88	0.0227	-57	c.85+ others(74): Show c.85+62741_85+62797delCCTGACAATCGGCGTGACCGTGGGGTGT TCCATCCTTCCTGGGCAACAGTGAGAGGG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DLG4_chr17_7182187_7222627	7205695	ATCCCCCA others(50): Show ATCCCCCATCCCACAGCCCGTCCCCCATCCCACAGCCCGTCCCCCATCCC GCAGCCCG	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG02015.hp1 others(17): Show HG01516.hp2 HG01517.hp1 HG02015.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp1 NA18944.hp1 NA18971.hp2 NA18983.hp1 NA19010.hp1 NA19058.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0013 a0001c0001t0023 a0001c0001t0026 others(11): Show a0001c0001t0013 a0001c0001t0023 a0001c0001t0026 a0001c0001t0039 a0001c0001t0043 a0001c0001t0054 a0001c0001t0156 a0001c0001t0159 a0001c0001t0160 a0001c0001t0161 a0001c0001t0162 a0001c0001t0163 a0001c0003t0157 a0001c0003t0158	a0001c0001t0013g0008 a0001c0001t0013g0092 a0001c0001t0013g0188 others(16): Show a0001c0001t0013g0008 a0001c0001t0013g0092 a0001c0001t0013g0188 a0001c0001t0023g0113 a0001c0001t0023g0160 a0001c0001t0026g0074 a0001c0001t0026g0186 a0001c0001t0039g0065 a0001c0001t0043g0159 a0001c0001t0043g0163 a0001c0001t0054g0152 a0001c0001t0156g0208 a0001c0001t0159g0161 a0001c0001t0160g0151 a0001c0001t0161g0209 a0001c0001t0162g0114 a0001c0001t0163g0162 a0001c0003t0157g0112 a0001c0003t0158g0103	20	376	0.0532	-57	c.97- others(72): Show c.97-1500_97-1444delCGGGCTGCGGGATGGGGGACGGGCTGTGGG ATGGGGGACGGGCTGTGGGATGGGGGA		DLG4	ENSG00000132535.22	transcript	ENST00000399506.9	protein_coding	2/19						chr17	TogoVar
DLG4_chr17_7182187_7222627	7205726	ACAGCCCG others(50): Show ACAGCCCGTCCCCCATCCCGCAGCCCGTCCCCCATCCCGCAGCCCGTCCC CCATCCCG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG06807.hp1 HG03471.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0014 a0001c0001t0044g0014	2	376	0.0053	-57	c.97- others(72): Show c.97-1531_97-1475delCGGGATGGGGGACGGGCTGCGGGATGGGGG ACGGGCTGCGGGATGGGGGACGGGCTG		DLG4	ENSG00000132535.22	transcript	ENST00000399506.9	protein_coding	2/19						chr17	TogoVar
DLGAP2_chr8_732628_1713476	1023584	GCGCAACA others(50): Show GCGCAACAGTGTCGGCAGGCCCCGTTTGTTCCTGCTCAGGACCTGGTGAT CATTGTTC	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03492.hp1 HG02071.hp2 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0012 a0002c0001 a0001c0012 a0002c0001	a0001c0012t0004 a0002c0001t0007 a0001c0012t0004 a0002c0001t0007	a0001c0012t0004g0036 a0002c0001t0007g0038 a0001c0012t0004g0036 a0002c0001t0007g0038	2	40	0.0500	-57	c.73+ others(76): Show c.73+115620_73+115676delGCAACAGTGTCGGCAGGCCCCGTTTG TTCCTGCTCAGGACCTGGTGATCATTGTTCC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1508297	CCCCCTGC others(50): Show CCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCACCCCCCGCAAACC CCCGCAAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02922.hp1 HG01496.hp2 HG02922.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0004 a0003c0005t0002 a0003c0005t0004	a0003c0005t0002g0031 a0003c0005t0004g0037 a0003c0005t0002g0031 a0003c0005t0004g0037	2	40	0.0500	-57	c.172 others(74): Show c.172+6871_172+6927delTGCAAACGCCCACCACCCCCCACCCCTC ACCACCCCCCGCAAACCCCCGCAAACCCC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1508445	GCCACCCT others(50): Show GCCACCCTCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCC ACCCCTCA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02922.hp1 HG01496.hp2 HG02922.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0004 a0003c0005t0002 a0003c0005t0004	a0003c0005t0002g0031 a0003c0005t0004g0037 a0003c0005t0002g0031 a0003c0005t0004g0037	2	40	0.0500	-57	c.172 others(74): Show c.172+7021_172+7077delTCTGCAAACCCCCGCCACCCCCTGCAAA CGCCCACCACCCCCCACCCCTCACCACCC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1582194	CCCCCACA others(50): Show CCCCCACACACATGTACACACCACAGTCAAACTACCAGAAGTGAAGGATA CAGACAAG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp2 HG02818.hp2 others(6): Show HG02258.hp1 HG02647.hp2 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG02976.hp1 HG03486.hp1 HG03492.hp1 NA18906.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0002c0006 a0002c0007 others(1): Show a0002c0001 a0002c0006 a0002c0007 a0004c0008	a0002c0001t0002 a0002c0001t0005 a0002c0001t0007 others(4): Show a0002c0001t0002 a0002c0001t0005 a0002c0001t0007 a0002c0001t0019 a0002c0006t0021 a0002c0007t0008 a0004c0008t0016	a0002c0001t0002g0013 a0002c0001t0002g0032 a0002c0001t0005g0028 others(6): Show a0002c0001t0002g0013 a0002c0001t0002g0032 a0002c0001t0005g0028 a0002c0001t0005g0035 a0002c0001t0007g0038 a0002c0001t0019g0030 a0002c0006t0021g0014 a0002c0007t0008g0040 a0004c0008t0016g0029	9	40	0.2250	-57	c.144 others(78): Show c.1442+16354_1442+16410delCAAGCCCCACACACATGTACACAC CACAGTCAAACTACCAGAAGTGAAGGATACAGA		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1681930	GTTGAACG others(50): Show GTTGAACGCTCTGCCTTCCCAGCAGTGATCTGGGACTGGGAGTCACGGCC CTCTGACA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02895.hp1 HG03516.hp2 others(1): Show HG02258.hp1 HG02895.hp1 HG03516.hp2 NA18906.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0001 a0004c0008 a0001c0003 a0002c0001 a0004c0008	a0001c0003t0001 a0002c0001t0005 a0004c0008t0016 a0001c0003t0001 a0002c0001t0005 a0004c0008t0016	a0001c0003t0001g0026 a0001c0003t0001g0027 a0002c0001t0005g0028 others(1): Show a0001c0003t0001g0026 a0001c0003t0001g0027 a0002c0001t0005g0028 a0004c0008t0016g0029	4	40	0.1000	-57	c.270 others(76): Show c.2704+3307_2704+3363delCGCTCTGCCTTCCCAGCAGTGATCTG GGACTGGGAGTCACGGCCCTCTGACATTGAA		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH10_chr12_123757301_123940714	123908064	GCTGTCTC others(50): Show GCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTCTCCCTGTCTCCTCC CTGTCTCT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02809.hp2 HG02970.hp2 others(1): Show HG01255.hp1 HG02809.hp2 HG02970.hp2 HG03471.hp1	a0002 a0010 a0020 a0002 a0010 a0020	a0002c0004 a0010c0084 a0020c0077 others(1): Show a0002c0004 a0010c0084 a0020c0077 a0020c0081	a0002c0004t0002 a0010c0084t0002 a0020c0077t0002 others(1): Show a0002c0004t0002 a0010c0084t0002 a0020c0077t0002 a0020c0081t0002	a0002c0004t0002g0139 a0010c0084t0002g0104 a0020c0077t0002g0163 others(1): Show a0002c0004t0002g0139 a0010c0084t0002g0104 a0020c0077t0002g0163 a0020c0081t0002g0155	4	170	0.0235	-57	c.981 others(76): Show c.9816-1115_9816-1059delTCCTCCCTGTCTCCCTGTCTCCTCCC TGTCTCTCTGTCTCCTCCCTGTCTCTCTGTC		DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	57/78					INFO_REALIGN_3_PRIME	chr12	TogoVar
DOCK2_chr5_169632275_170088382	170012229	CTTTTTCA others(50): Show CTTTTTCAAAGTGTATGCATATTGTTTCAAAGGATGTGAAATGACCAACG ATCTACGT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01515.hp1 HG02300.hp2 HG01433.hp1 HG01515.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0008t0003 a0001c0001t0003 a0001c0008t0003	a0001c0001t0003g0033 a0001c0001t0003g0073 a0001c0008t0003g0091 a0001c0001t0003g0033 a0001c0001t0003g0073 a0001c0008t0003g0091	3	184	0.0163	-57	c.323 others(76): Show c.3232+3516_3232+3572delATGTGAAATGACCAACGATCTACGTT TTTTCAAAGTGTATGCATATTGTTTCAAAGG		DOCK2	ENSG00000134516.20	transcript	ENST00000520908.7	protein_coding	32/51					INFO_REALIGN_3_PRIME	chr5	TogoVar
DOCK3_chr3_50669927_51389198	51015963	TATATGAT others(50): Show TATATGATATATATATCATATATTTCTACATAATATATATATCATATATT TCTACATA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0164 a0001c0001t0015g0164	1	212	0.0047	-57	c.316 others(76): Show c.316-48480_316-48424delGATATATATATCATATATTTCTACAT AATATATATATCATATATTTCTACATAATAT		DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52					INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK8_chr9_209865_470255	400279	ACTTCCTT others(50): Show ACTTCCTTCACCACCACCACCATCTTCACCGTCACCACCACCTCCACCAC CACCACCT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0145 a0003c0001t0001g0145	1	256	0.0039	-57	c.323 others(76): Show c.3234+1022_3234+1078delTTCCTTCACCACCACCACCATCTTCA CCGTCACCACCACCTCCACCACCACCACCTC		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DPP7_chr9_137105546_137119733	137111239	AGGGTGAG others(50): Show AGGGTGAGACGGGAGCAGGGTAGGGGCAGGCGAGGGGCCTGTGATCCCAG CACTCTGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(40): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00642.hp2 HG00733.hp1 HG01074.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02698.hp2 HG02735.hp2 HG03017.hp2 HG03041.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 NA19030.hp2 NA20129.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0003 a0002c0002 a0002c0011 others(1): Show a0001c0003 a0002c0002 a0002c0011 a0010c0028	a0001c0003t0001 a0002c0002t0001 a0002c0011t0001 others(1): Show a0001c0003t0001 a0002c0002t0001 a0002c0011t0001 a0010c0028t0001	a0001c0003t0001g0003 a0001c0003t0001g0006 a0001c0003t0001g0054 others(5): Show a0001c0003t0001g0003 a0001c0003t0001g0006 a0001c0003t0001g0054 a0001c0003t0001g0056 a0001c0003t0001g0057 a0002c0002t0001g0073 a0002c0011t0001g0070 a0010c0028t0001g0142	43	454	0.0947	-57	c.127 others(74): Show c.1273-346_1273-290delCCAGAGTGCTGGGATCACAGGCCCCTCG CCTGCCCCTACCCTGCTCCCGTCTCACCC		DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	11/12						chr9	TogoVar
DSG3_chr18_31442741_31483702	31457528	TTTCTTTC others(50): Show TTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp1 HG02976.hp1 others(1): Show HG02630.hp1 HG02809.hp1 HG02976.hp1 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0020 a0001c0003t0050 a0001c0003t0012 a0001c0003t0020 a0001c0003t0050	a0001c0003t0012g0246 a0001c0003t0020g0039 a0001c0003t0050g0248 a0001c0003t0012g0246 a0001c0003t0020g0039 a0001c0003t0050g0248	4	346	0.0116	-57	c.216 others(72): Show c.216+425_216+481delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTCTTTCTTTCTTTCTTTCT		DSG3	ENSG00000134757.5	transcript	ENST00000257189.5	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr18	TogoVar
DYDC1_chr10_80331105_80361755	80352514	TCGGATCC others(50): Show TCGGATCCACTGGGCGAACTCTTGCCACTTCTGCAAGACCTTGAGTTAAA CAGGCCCC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0173 a0002c0002t0001g0173	1	366	0.0027	-57	c.31_ others(62): Show c.31_87delGGGGCCTGTTTAACTCAAGGTCTTGCAGAAGTGGCAAGAG TTCGCCCAGTGGATCCG	p.Gly others(11): Show p.Gly11_Pro29del	DYDC1	ENSG00000170788.14	transcript	ENST00000372202.6	protein_coding	2/7	140/638	31/534	11/177			chr10	TogoVar
EEFSEC_chr3_128148481_128413646	128330865	ATTCCTCA others(50): Show ATTCCTCAGTGCATCTCCCCTCTTCCCCCTTCCTCAGTGCATCTCCCCTC TTCCCCCC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00438.hp1 others(124): Show HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01175.hp2 HG01192.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01891.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03579.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18522.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18986.hp2 NA18990.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19060.hp2 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0002c0005 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0009t0001 a0002c0005t0003 a0005c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0001g0042 others(124): Show a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0201 a0001c0001t0005g0181 a0001c0001t0006g0209 a0001c0002t0001g0019 a0001c0002t0001g0063 a0001c0003t0001g0229 a0001c0009t0001g0040 a0002c0005t0003g0047 a0002c0005t0003g0049 a0005c0011t0001g0251	127	272	0.4669	-57	c.787 others(76): Show c.787-10283_787-10227delCTTCCTCAGTGCATCTCCCCTCTTCC CCCCTTCCTCAGTGCATCTCCCCTCTTCCCC		EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
EEPD1_chr7_36148254_36306538	36219611	GGAAGGAA others(50): Show GGAAGGAAAGAAGGAAAGAAGGAAAGAAAAGAAGAAGGAGGAAGAGGAAG GAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0031 a0002c0014t0031	a0002c0014t0031g0064 a0002c0014t0031g0064	1	346	0.0029	-57	c.879 others(76): Show c.879-19353_879-19297delGAAAGAAAAGAAGAAGGAGGAAGAGG AAGGAAGGAAAGAAGGAAAGAAGGAAAGAAG		EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB8_chr20_32853923_32966845	32854686	TTATATAT others(50): Show TTATATATATATATGATCATATATAATATATATAAGATATATATGATCAT ATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01346.hp1 HG01433.hp1 others(4): Show HG01123.hp2 HG01346.hp1 HG01433.hp1 HG01981.hp2 HG02109.hp2 HG02148.hp2 NA20805.hp2	a0005 a0012 a0023 others(1): Show a0005 a0012 a0023 a0039	a0005c0035 a0012c0012 a0023c0024 others(1): Show a0005c0035 a0012c0012 a0023c0024 a0039c0066	a0005c0035t0001 a0012c0012t0004 a0023c0024t0005 others(1): Show a0005c0035t0001 a0012c0012t0004 a0023c0024t0005 a0039c0066t0004	a0005c0035t0001g0095 a0012c0012t0004g0094 a0012c0012t0004g0108 others(4): Show a0005c0035t0001g0095 a0012c0012t0004g0094 a0012c0012t0004g0108 a0012c0012t0004g0109 a0012c0012t0004g0195 a0023c0024t0005g0041 a0039c0066t0004g0107	7	284	0.0247	-57	c.-43 others(68): Show c.-4330_-4274delTATATATATATATGATCATATATAATATATATAA GATATATATGATCATATATATAA		EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding					4236		chr20	TogoVar
EFCAB9_chr5_172189172_172208454	172189830	GAGAGAAA others(50): Show GAGAGAAAGAAAGAAAGAGAAAGGGAAAGGAAAGGAAGAAAGAGAGAAAG GAAAGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG03139.hp2 others(1): Show HG02257.hp2 HG02451.hp2 HG03139.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0124 a0001c0001t0002g0027 a0001c0001t0002g0124	4	408	0.0098	-57	c.-43 others(68): Show c.-4342_-4286delAGAGAAAGAAAGAAAGAGAAAGGGAAAGGAAAGG AAGAAAGAGAGAAAGGAAAGAGA		EFCAB9	ENSG00000214360.5	transcript	ENST00000398186.5	protein_coding					4341		chr5	TogoVar
EHMT1_chr9_137614005_137841127	137680029	TGAAATGC others(50): Show TGAAATGCCTCTACGTTGTATCTGTATCTTGTATTGTATTCCCCCTTCCT GCTGATGC	T T	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0011 a0001c0005t0001g0012 a0001c0005t0001g0011 a0001c0005t0001g0012	2	170	0.0118	-57	c.22- others(74): Show c.22-30901_22-30845delATTCCCCCTTCCTGCTGATGCGAAATGC CTCTACGTTGTATCTGTATCTTGTATTGT		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EIPR1_chr2_3183970_3382818	3328632	GATCAGAG others(50): Show GATCAGAGCCCACCCACCACGCTCTAATGATCTCAGGGCACCAGCCAGGC TCCCCTGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	250	0.0040	-57	c.259 others(74): Show c.259+9328_259+9384delTCAGGGGAGCCTGGCTGGTGCCCTGAGA TCATTAGAGCGTGGTGGGTGGGCTCTGAT		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8						chr2	TogoVar
ELOVL5_chr6_53262404_53353950	53306228	AGAGGGGA others(50): Show AGAGGGGAGAGGGAGAGGGGAGAGGGGAGAGGGAGAGGGGAGAGGGGAGA GGGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	320	0.0031	-57	c.-8- others(74): Show c.-8-10578_-8-10522delCTCTCCCCTCTCCCCTCTCCCCTCTCCC TCTCCCCTCTCCCCTCTCCCTCTCCCCTC		ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7						chr6	TogoVar

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