Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KIFBP_chr10_68983803_69021982	69008391	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	109	0.0092	37	c.790 others(52): Show c.790-449_790-448insAAAAAAAAAAAAAAAAATATATATATATAT ATATATA	KIFBP	ENSG00000198954.9	transcript	ENST00000361983.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIFBP_chr10_68983803_69021982	69008391	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	1	109	0.0092	37	c.790 others(52): Show c.790-449_790-448insAAAAATATATATATATATATATATATATAT ATATATA	KIFBP	ENSG00000198954.9	transcript	ENST00000361983.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIR2DL3_chr19_54733513_54758052	54755289	G G	GTGGAGAT others(30): Show GTGGAGATAGGAACCTGGAGGGGAGATATGAGCCTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA19066.hp1 NA18952.hp1 NA19066.hp1	a0012 a0012	a0012c0010 a0012c0010	a0012c0010t0006 a0012c0010t0006	a0012c0010t0006g0041 a0012c0010t0006g0043 a0012c0010t0006g0041 a0012c0010t0006g0043	2	310	0.0065	37	c.27 others(48): Show c.2770_*2771insTGGAGATAGGAACCTGGAGGGGAGATATGAGCCT GGA	KIR2DL3	ENSG00000243772.8	transcript	ENST00000342376.4	protein_coding		2238		chr19	TogoVar
KLF12_chr13_73681089_74139404	74022454	A A	AGTCTCCC others(30): Show AGTCTCCCACTTCTGCCACATGGCATTTTTCAAATTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02723.hp2 others(8): Show HG02257.hp1 HG02559.hp2 HG02723.hp2 HG02886.hp1 HG02897.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03516.hp2 HG03669.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0032 a0001c0001t0036 a0001c0001t0044 a0001c0002t0003 a0001c0002t0004 a0001c0002t0024	a0001c0001t0001g0045 a0001c0001t0003g0100 a0001c0001t0004g0118 others(8): Show a0001c0001t0001g0045 a0001c0001t0003g0100 a0001c0001t0004g0118 a0001c0001t0012g0113 a0001c0001t0032g0092 a0001c0001t0036g0048 a0001c0001t0044g0111 a0001c0002t0003g0055 a0001c0002t0004g0049 a0001c0002t0004g0108 a0001c0002t0024g0030	11	118	0.0932	37	c.-31 others(56): Show c.-31-27438_-31-27402dupAAAATTTGAAAAATGCCATGTGGCAG AAGTGGGAGAC	KLF12	ENSG00000118922.19	transcript	ENST00000703967.1	protein_coding	1/7			chr13	TogoVar
KLF15_chr3_126337635_126362408	126343152	G G	GCCCCCCA others(30): Show GCCCCCCACCCCCCCACCCCCCCCCCCACCCCCCCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	142	0.0070	37	c.57 others(46): Show c.574_*575insGGGGGGGGGGTGGGGGGGGGGGTGGGGGGGTGGGGG G	KLF15	ENSG00000163884.4	transcript	ENST00000296233.4	protein_coding	3/3	574		chr3	TogoVar
KLF17_chr1_44113821_44140140	44127692	T T	TTCTTTCT others(30): Show TTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0121 a0004c0004t0004g0121	1	200	0.0050	37	c.82- others(52): Show c.82-1660_82-1659insCTTTCTTTCTTTTCTTTCTTTCTTTCTTTT TCTTTCT	KLF17	ENSG00000171872.5	transcript	ENST00000372299.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLF6_chr10_3770996_3790209	3789624	C C	CCCCCAAA others(30): Show CCCCCAAACCCAGATAGTAAACATCTGACAATACACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	456	0.0022	37	c.-46 others(48): Show c.-4611_-4610insCCGTGTATTGTCAGATGTTTACTATCTGGGTTTG GGG	KLF6	ENSG00000067082.15	transcript	ENST00000497571.6	protein_coding		4416		chr10	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(30): Show AAAAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	26	0.0385	37	c.22 others(48): Show c.2297_*2298insAAAAAAAATATATATATATATATATATATATATA TAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	26	0.0385	37	c.22 others(48): Show c.2297_*2298insAAAAAATATATATATATATATATATATATATATA TAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC4_chr16_87702812_87770986	87770984	T T	TATGTATT others(30): Show TATGTATTAATACTATCAAGGTCTGGCCAGGCACAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0306 a0003c0003t0002g0306	1	378	0.0026	37	c.-50 others(48): Show c.-5095_-5094insCACTGTGCCTGGCCAGACCTTGATAGTATTAATA CAT	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding		4999		chr16	TogoVar
KLHL23_chr2_169728832_169756878	169738839	C C	CCCCCTCC others(30): Show CCCCCTCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0225 a0001c0001t0022g0225	1	396	0.0025	37	c.121 others(56): Show c.1214-2537_1214-2536insCTCCTCCCCCTCCCCCCTCCTCCCCC TTCCCCTCCCC	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL23_chr2_169728832_169756878	169740766	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0053 a0001c0001t0019g0053	1	100	0.0100	37	c.121 others(54): Show c.1214-619_1214-618insATATATATATATATATATATATATATAT ATATATATA	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3			chr2	TogoVar
KLHL23_chr2_169728832_169756878	169747389	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0042 a0001c0001t0045g0042	1	42	0.0238	37	c.136 others(56): Show c.1367-2014_1367-2013insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL25_chr15_85754326_85799925	85766559	A A	AGATTAAA others(30): Show AGATTAAACCAGCACCAGATGAGACACTCCTCCCGCCC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0157 a0001c0001t0003g0157	1	404	0.0025	37	c.24 others(54): Show c.24+1421_*24+1457dupGGGCGGGAGGAGTGTCTCATCTGGTGCT GGTTTAATC	KLHL25	ENSG00000183655.13	transcript	ENST00000337975.6	protein_coding	2/2			chr15	TogoVar
KLHL32_chr6_96919728_97145753	96973730	C C	CTCTTTTT others(30): Show CTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0040 a0001c0007t0040	a0001c0007t0040g0227 a0001c0007t0040g0227	1	79	0.0127	37	c.24- others(52): Show c.24-2266_24-2265insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	KLHL32	ENSG00000186231.17	transcript	ENST00000369261.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
KLHL32_chr6_96919728_97145753	97055796	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	70	0.0143	37	c.313 others(54): Show c.313-8806_313-8805insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	KLHL32	ENSG00000186231.17	transcript	ENST00000369261.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
KLK7_chr19_50971468_50988917	50983145	C C	CCCTCCTC others(30): Show CCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA20905.hp2 HG03041.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0071 a0001c0002t0003g0072 a0001c0001t0001g0071 a0001c0002t0003g0072	2	378	0.0053	37	c.-58 others(52): Show c.-58-689_-58-688insAGCTGGGGGCCTGGACTCCTGGGTCTGAGG GAGGAGG	KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding	1/5			chr19	TogoVar
KLRB1_chr12_9589551_9612916	9607335	C C	CTCTTTCT others(30): Show CTCTTTCTTCCTTCCTTTCTTTCTTCCTTCGTTTCTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	222	0.0045	37	c.85+ others(50): Show c.85+419_85+420insAAAGAAACGAAGGAAGAAAGAAAGGAAGGAAG AAAGA	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607415	T T	TTCTTTCT others(30): Show TTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp2 NA18972.hp1 NA18949.hp1 NA18949.hp2 NA18972.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194	3	240	0.0125	37	c.85+ others(50): Show c.85+339_85+340insCAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAGA	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KNDC1_chr10_133155219_133231412	133155658	A A	AACTGTGG others(30): Show AACTGTGGGGTATTGACGTCGTTGGAAAGAGAACCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG02280.hp2 NA18946.hp2 others(2): Show HG00408.hp2 HG02280.hp2 NA18946.hp2 NA19011.hp1 NA20129.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0010 a0016	a0001c0001 a0002c0043 a0004c0007 others(2): Show a0001c0001 a0002c0043 a0004c0007 a0010c0037 a0016c0066	a0001c0001t0002 a0002c0043t0002 a0004c0007t0002 others(2): Show a0001c0001t0002 a0002c0043t0002 a0004c0007t0002 a0010c0037t0024 a0016c0066t0002	a0001c0001t0002g0086 a0002c0043t0002g0066 a0004c0007t0002g0056 others(2): Show a0001c0001t0002g0086 a0002c0043t0002g0066 a0004c0007t0002g0056 a0010c0037t0024g0307 a0016c0066t0002g0113	5	270	0.0185	37	c.-48 others(48): Show c.-4810_-4809insACTGTGGGGTATTGACGTCGTTGGAAAGAGAACC TCC	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		4560		chr10	TogoVar
KNDC1_chr10_133155219_133231412	133155880	C C	CACTGTGG others(30): Show CACTGTGGGGTATTGACGTCGTTGGAAAGAGAACCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0003 a0006c0019t0003	a0006c0019t0003g0274 a0006c0019t0003g0275 a0006c0019t0003g0274 a0006c0019t0003g0275	2	324	0.0062	37	c.-45 others(48): Show c.-4588_-4587insACTGTGGGGTATTGACGTCGTTGGAAAGAGAACC TCA	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		4338		chr10	TogoVar
KNDC1_chr10_133155219_133231412	133156011	G G	GTTGGAAA others(30): Show GTTGGAAAGAGAACCTCCACTGTGGGGTATTGACGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0010 a0010	a0010c0053 a0010c0053	a0010c0053t0001 a0010c0053t0001	a0010c0053t0001g0313 a0010c0053t0001g0313	1	326	0.0031	37	c.-44 others(48): Show c.-4457_-4456insTTGGAAAGAGAACCTCCACTGTGGGGTATTGACG TCA	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		4207		chr10	TogoVar
KNDC1_chr10_133155219_133231412	133156118	C C	CGTCATTG others(30): Show CGTCATTGGAAAGAGAGCCTCAACTGTGGAGTATTGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0025 a0002c0006t0025	a0002c0006t0025g0276 a0002c0006t0025g0276	1	326	0.0031	37	c.-43 others(48): Show c.-4350_-4349insGTCATTGGAAAGAGAGCCTCAACTGTGGAGTATT GAT	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		4100		chr10	TogoVar
KNDC1_chr10_133155219_133231412	133156401	T T	TGTGGGGT others(30): Show TGTGGGGTATTGACATCGTTGGAAAGAGAACCTCCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02615.hp1 HG00735.hp2 HG02615.hp1	a0003 a0003	a0003c0015 a0003c0049 a0003c0015 a0003c0049	a0003c0015t0022 a0003c0049t0002 a0003c0015t0022 a0003c0049t0002	a0003c0015t0022g0110 a0003c0049t0002g0111 a0003c0015t0022g0110 a0003c0049t0002g0111	2	327	0.0061	37	c.-40 others(48): Show c.-4067_-4066insGTGGGGTATTGACATCGTTGGAAAGAGAACCTCC ACG	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		3817		chr10	TogoVar
KNDC1_chr10_133155219_133231412	133174295	A A	ATGAAGAT others(30): Show ATGAAGATGGGGAACTTGCAACACGGAAGGAAGGGCGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp2 HG01071.hp1 others(24): Show HG00733.hp1 HG01069.hp2 HG01071.hp1 HG01243.hp1 HG01891.hp1 HG02145.hp1 HG02647.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp1	a0003 a0006 a0007 a0003 a0006 a0007	a0003c0011 a0003c0015 a0003c0032 others(5): Show a0003c0011 a0003c0015 a0003c0032 a0003c0034 a0006c0010 a0006c0019 a0007c0009 a0007c0047	a0003c0011t0001 a0003c0015t0002 a0003c0032t0008 others(7): Show a0003c0011t0001 a0003c0015t0002 a0003c0032t0008 a0003c0034t0001 a0006c0010t0001 a0006c0010t0023 a0006c0019t0003 a0007c0009t0001 a0007c0009t0002 a0007c0047t0001	a0003c0011t0001g0027 a0003c0011t0001g0055 a0003c0011t0001g0145 others(24): Show a0003c0011t0001g0027 a0003c0011t0001g0055 a0003c0011t0001g0145 a0003c0011t0001g0146 a0003c0011t0001g0209 a0003c0011t0001g0247 a0003c0011t0001g0248 a0003c0015t0002g0236 a0003c0032t0008g0305 a0003c0034t0001g0309 a0006c0010t0001g0044 a0006c0010t0001g0047 a0006c0010t0001g0048 a0006c0010t0001g0049 a0006c0010t0001g0050 a0006c0010t0001g0239 a0006c0010t0023g0021 a0006c0019t0003g0274 a0006c0019t0003g0275 a0007c0009t0001g0002 a0007c0009t0001g0045 a0007c0009t0001g0046 a0007c0009t0001g0130 a0007c0009t0001g0132 a0007c0009t0001g0133 a0007c0009t0002g0131 a0007c0047t0001g0002	27	330	0.0818	37	c.360 others(54): Show c.360+6000_360+6036dupGCAACACGGAAGGAAGGGCGGTGAAGAT GGGGAACTT	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNL1_chr15_40589249_40669342	40656293	C C	CATTGTGG others(30): Show CATTGTGGTGTGTGCCTGTAAGCAAAAATAGCTGGGCA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	368	0.0027	37	c.648 others(54): Show c.6485-730_6485-729insAGCAAAAATAGCTGGGCAATTGTGGTGT GTGCCTGTA	KNL1	ENSG00000137812.21	transcript	ENST00000399668.7	protein_coding	22/25		INFO_REALIGN_3_PRIME	chr15	TogoVar
KNOP1_chr16_19696937_19723227	19717369	G G	GGAGAGCC others(30): Show GGAGAGCCAAGACGACTTCAGAATAGGGGAGCAGTCAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	370	0.0027	37	c.-3+ others(50): Show c.-3+752_-3+788dupTTGACTGCTCCCCTATTCTGAAGTCGTCTTGG CTCTC	KNOP1	ENSG00000103550.14	transcript	ENST00000219837.12	protein_coding	1/4			chr16	TogoVar
KRBA1_chr7_149709951_149739575	149731299	C C	CATTCTTC others(30): Show CATTCTTCACTCCGCAGTGGGCCTAGTGGAAAATGGCA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	412	0.0024	37	c.224 others(54): Show c.2249-372_2249-336dupATTCTTCACTCCGCAGTGGGCCTAGTGG AAAATGGCA	KRBA1	ENSG00000133619.18	transcript	ENST00000496259.6	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
KRT23_chr17_40917700_40942646	40940059	C C	CACACACA others(30): Show CACACACAACGTTTGGTGACATTTGGTGAACATCCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	1	432	0.0023	37	c.-30 others(48): Show c.-3065_-3064insAAAGGATGTTCACCAAATGTCACCAAACGTTGTG TGT	KRT23	ENSG00000108244.17	transcript	ENST00000209718.8	protein_coding		2414		chr17	TogoVar
KRT35_chr17_41471710_41486151	41479183	T T	TCACCTGC others(30): Show TCACCTGCTCCCCATGCTCACCTCCTCTTCCCTATGCA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	2	446	0.0045	37	c.711 others(52): Show c.711+127_711+163dupTGCATAGGGAAGAGGAGGTGAGCATGGGGA GCAGGTG	KRT35	ENSG00000197079.9	transcript	ENST00000246639.7	protein_coding	3/6			chr17	TogoVar
KRT8_chr12_52892191_52910076	52894989	A A	AGAAAGAA others(30): Show AGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	320	0.0031	37	c.24 others(48): Show c.2438_*2439insCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCT TTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2201		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894993	A A	AGAAAGAA others(30): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0029 a0001c0002t0008g0029	1	359	0.0028	37	c.24 others(48): Show c.2434_*2435insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2197		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894993	A A	AGAAAGAA others(30): Show AGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	359	0.0028	37	c.24 others(48): Show c.2434_*2435insCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCT TTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2197		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894998	G G	GAAAGAAA others(30): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	383	0.0026	37	c.24 others(48): Show c.2429_*2430insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2192		chr12	TogoVar
KRT8_chr12_52892191_52910076	52895002	G G	GAAAGAAA others(30): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 NA21309.hp1 HG01884.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0001 a0003c0006t0001 a0001c0002t0001 a0003c0006t0001	a0001c0002t0001g0006 a0003c0006t0001g0017 a0001c0002t0001g0006 a0003c0006t0001g0017	2	380	0.0053	37	c.24 others(48): Show c.2425_*2426insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2188		chr12	TogoVar
KRTAP4-4_chr17_41154649_41165748	41161596	T T	TATATAAA others(30): Show TATATAAAATATATATTATATATATACATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02895.hp1 HG02896.hp2 others(2): Show HG02486.hp1 HG02895.hp1 HG02896.hp2 HG03579.hp1 HG06807.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0000 a0004c0004t0002g0000	5	418	0.0120	37	c.-90 others(46): Show c.-906_-905insTATATATATATGTATATATATAATATATATTTTATA T	KRTAP4-4	ENSG00000171396.12	transcript	ENST00000390661.5	protein_coding		849		chr17	TogoVar
KRTAP4-9_chr17_41100389_41111488	41110054	C C	CAAGAAAG others(30): Show CAAGAAAGAAAGAAAGCAAGCAAGAAAGAAAGAAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	130	0.0077	37	c.40 others(48): Show c.4033_*4034insAAGAAAGAAAGAAAGCAAGCAAGAAAGAAAGAAA AGA	KRTAP4-9	ENSG00000212722.9	transcript	ENST00000391415.2	protein_coding		3567		chr17	TogoVar
KRTAP4-9_chr17_41100389_41111488	41110054	C C	CAAGAAAG others(30): Show CAAGAAAGAAAGAAAGCAAGCAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00733.hp2 HG00735.hp2 others(26): Show HG00099.hp1 HG00733.hp2 HG00735.hp2 HG01074.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01517.hp2 HG01981.hp2 HG02056.hp2 HG02155.hp1 HG02523.hp1 HG02572.hp2 HG02647.hp2 HG02735.hp1 HG03453.hp1 HG03486.hp2 HG03927.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18942.hp1 NA18973.hp2 NA18983.hp2 NA19043.hp2 NA19054.hp2 NA19068.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	29	158	0.1835	37	c.40 others(48): Show c.4033_*4034insAAGAAAGAAAGAAAGCAAGCAAGAAAGAAAGAAA GAA	KRTAP4-9	ENSG00000212722.9	transcript	ENST00000391415.2	protein_coding		3567		chr17	TogoVar
KRTAP4-9_chr17_41100389_41111488	41110054	C C	CAAGAAAG others(30): Show CAAGAAAGAAAGAAAGCAAGCAAGCAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG02683.hp1 HG03831.hp2 others(2): Show HG00280.hp2 HG02683.hp1 HG03831.hp2 HG04228.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	5	134	0.0373	37	c.40 others(48): Show c.4033_*4034insAAGAAAGAAAGAAAGCAAGCAAGCAAGAAAGAAA GAA	KRTAP4-9	ENSG00000212722.9	transcript	ENST00000391415.2	protein_coding		3567		chr17	TogoVar
KRTAP4-9_chr17_41100389_41111488	41110054	C C	CAAGCAAG others(30): Show CAAGCAAGAAAGAAAGCAAGCAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 NA19067.hp1 HG01070.hp1 HG01071.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	132	0.0227	37	c.40 others(48): Show c.4033_*4034insAAGCAAGAAAGAAAGCAAGCAAGAAAGAAAGAAA GAA	KRTAP4-9	ENSG00000212722.9	transcript	ENST00000391415.2	protein_coding		3567		chr17	TogoVar
KRTAP9-6_chr17_41260378_41270860	41261059	A A	AGGGGGGG others(30): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	248	0.0040	37	c.-43 others(48): Show c.-4319_-4318insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA GAG	KRTAP9-6	ENSG00000212659.2	transcript	ENST00000391355.2	protein_coding		4318		chr17	TogoVar
KRTAP9-9_chr17_41250384_41261364	41261059	A A	AGGGGGGG others(30): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	414	0.0024	37	c.51 others(48): Show c.5164_*5165insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA GAG	KRTAP9-9	ENSG00000198083.9	transcript	ENST00000394008.1	protein_coding		4696		chr17	TogoVar
KSR2_chr12_117448012_117973990	117740578	T T	TATATATT others(30): Show TATATATTCATATATTATATGCATATATTACATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00544.hp1 others(21): Show HG00280.hp1 HG00438.hp1 HG00544.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01192.hp2 HG01258.hp1 HG01928.hp1 HG01928.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02523.hp1 HG02523.hp2 HG03831.hp2 HG03834.hp2 NA18944.hp1 NA18962.hp1 NA18983.hp1 NA19011.hp2 NA19065.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0003 a0001c0001t0014 a0001c0001t0041 others(19): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0041 a0001c0001t0044 a0001c0001t0063 a0001c0001t0077 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0014 a0001c0002t0017 a0001c0002t0035 a0001c0002t0057 a0001c0002t0072 a0001c0002t0131 a0001c0003t0012 a0001c0003t0060 a0001c0004t0024 a0001c0004t0087 a0001c0007t0051 a0001c0007t0134	a0001c0001t0003g0114 a0001c0001t0014g0103 a0001c0001t0041g0011 others(21): Show a0001c0001t0003g0114 a0001c0001t0014g0103 a0001c0001t0041g0011 a0001c0001t0044g0029 a0001c0001t0063g0053 a0001c0001t0077g0078 a0001c0002t0001g0112 a0001c0002t0001g0166 a0001c0002t0002g0160 a0001c0002t0003g0086 a0001c0002t0003g0092 a0001c0002t0008g0023 a0001c0002t0014g0165 a0001c0002t0017g0032 a0001c0002t0035g0014 a0001c0002t0057g0056 a0001c0002t0072g0077 a0001c0002t0131g0186 a0001c0003t0012g0151 a0001c0003t0060g0052 a0001c0004t0024g0093 a0001c0004t0087g0105 a0001c0007t0051g0038 a0001c0007t0134g0196	24	194	0.1237	37	c.986 others(56): Show c.986+20432_986+20433insTATATATGTAATATATGCATATAATA TATGAATATAT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	4/19			chr12	TogoVar
KTN1_chr14_55575207_55689579	55689317	A A	AGGGGGGG others(30): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0109 a0009c0013t0001g0109	1	312	0.0032	37	c.52 others(48): Show c.5214_*5215insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGG	KTN1	ENSG00000126777.18	transcript	ENST00000395314.8	protein_coding		4739		chr14	TogoVar
LAMA5_chr20_62304065_62372312	62318298	G G	GGGGGGAG others(30): Show GGGGGGAGGAAGAGGAGGAGGGGGGAGGAAGAGGAGGA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0083 a0083	a0083c0046 a0083c0046	a0083c0046t0001 a0083c0046t0001	a0083c0046t0001g0090 a0083c0046t0001g0090	1	183	0.0055	37	c.723 others(54): Show c.7239+155_7239+156insTCCTCCTCTTCCTCCCCCCTCCTCCTCT TCCTCCCCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	53/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62318318	G G	GGGGGGAG others(30): Show GGGGGGAGGAAGAGGAGGAGGGGGGAGGAAGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp2 HG00642.hp1 others(20): Show HG00099.hp2 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG01192.hp1 HG01257.hp2 HG01346.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02572.hp1 HG03239.hp2 HG03688.hp1 HG03688.hp2 HG03927.hp2 HG04228.hp2 NA18983.hp2 NA19066.hp1 NA19088.hp2	a0002 a0006 a0017 others(8): Show a0002 a0006 a0017 a0018 a0019 a0031 a0042 a0050 a0054 a0064 a0084	a0002c0003 a0002c0013 a0002c0081 others(12): Show a0002c0003 a0002c0013 a0002c0081 a0002c0124 a0006c0012 a0017c0021 a0018c0020 a0019c0114 a0019c0115 a0031c0117 a0042c0118 a0050c0112 a0054c0023 a0064c0122 a0084c0119	a0002c0003t0001 a0002c0013t0001 a0002c0081t0001 others(12): Show a0002c0003t0001 a0002c0013t0001 a0002c0081t0001 a0002c0124t0001 a0006c0012t0001 a0017c0021t0001 a0018c0020t0001 a0019c0114t0001 a0019c0115t0001 a0031c0117t0001 a0042c0118t0001 a0050c0112t0001 a0054c0023t0001 a0064c0122t0001 a0084c0119t0001	a0002c0003t0001g0089 a0002c0003t0001g0125 a0002c0003t0001g0139 others(20): Show a0002c0003t0001g0089 a0002c0003t0001g0125 a0002c0003t0001g0139 a0002c0003t0001g0141 a0002c0003t0001g0145 a0002c0013t0001g0013 a0002c0013t0001g0075 a0002c0081t0001g0086 a0002c0124t0001g0025 a0006c0012t0001g0150 a0006c0012t0001g0152 a0006c0012t0001g0153 a0017c0021t0001g0071 a0017c0021t0001g0081 a0018c0020t0001g0151 a0019c0114t0001g0080 a0019c0115t0001g0069 a0031c0117t0001g0072 a0042c0118t0001g0070 a0050c0112t0001g0076 a0054c0023t0001g0009 a0064c0122t0001g0023 a0084c0119t0001g0073	23	181	0.1271	37	c.723 others(54): Show c.7239+135_7239+136insTCCTCCTCTTCCTCCCCCCTCCTCCTCT TCCTCCCCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	53/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62334753	C C	CAGGGCTC others(30): Show CAGGGCTCAGGGCGAGGGCGAGGGCGAGGGCGAGGGCG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG01070.hp2 others(13): Show HG00544.hp2 HG00597.hp2 HG01070.hp2 HG01192.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG02015.hp2 HG02027.hp1 HG02129.hp2 HG02572.hp2 HG03654.hp2 HG03688.hp1 HG03927.hp2 HG04228.hp2 NA19010.hp2	a0001 a0002 a0017 others(9): Show a0001 a0002 a0017 a0019 a0033 a0042 a0044 a0050 a0057 a0066 a0083 a0084	a0001c0007 a0002c0013 a0002c0081 others(11): Show a0001c0007 a0002c0013 a0002c0081 a0017c0021 a0019c0114 a0019c0115 a0033c0121 a0042c0118 a0044c0120 a0050c0112 a0057c0113 a0066c0132 a0083c0046 a0084c0119	a0001c0007t0001 a0002c0013t0001 a0002c0081t0001 others(11): Show a0001c0007t0001 a0002c0013t0001 a0002c0081t0001 a0017c0021t0001 a0019c0114t0001 a0019c0115t0001 a0033c0121t0001 a0042c0118t0001 a0044c0120t0006 a0050c0112t0001 a0057c0113t0005 a0066c0132t0001 a0083c0046t0001 a0084c0119t0001	a0001c0007t0001g0084 a0001c0007t0001g0148 a0002c0013t0001g0013 others(13): Show a0001c0007t0001g0084 a0001c0007t0001g0148 a0002c0013t0001g0013 a0002c0081t0001g0086 a0017c0021t0001g0071 a0017c0021t0001g0081 a0019c0114t0001g0080 a0019c0115t0001g0069 a0033c0121t0001g0078 a0042c0118t0001g0070 a0044c0120t0006g0074 a0050c0112t0001g0076 a0057c0113t0005g0077 a0066c0132t0001g0054 a0083c0046t0001g0090 a0084c0119t0001g0073	16	55	0.2909	37	c.248 others(54): Show c.2483-133_2483-132insCGCCCTCGCCCTCGCCCTCGCCCTCGCC CTGAGCCCT	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	20/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62360546	G G	GGTGGATG others(30): Show GGTGGATGGATAGGTGGGTGGGTGGGTGGAGGGATAGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0007 a0007	a0007c0047 a0007c0047	a0007c0047t0001 a0007c0047t0001	a0007c0047t0001g0085 a0007c0047t0001g0085	1	163	0.0061	37	c.450 others(54): Show c.450+1853_450+1854insTCTATCCCTCCACCCACCCACCCACCTA TCCATCCAC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LAMB1_chr7_107918799_108008161	107949471	T T	TTTAACAG others(30): Show TTTAACAGAGTAGTGATTAGAGCCCTGGAAAAAACAGA	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0278 a0002c0008t0002g0278	1	362	0.0028	37	c.339 others(56): Show c.3391+1718_3391+1754dupTCTGTTTTTTCCAGGGCTCTAATCAC TACTCTGTTAA	LAMB1	ENSG00000091136.15	transcript	ENST00000222399.11	protein_coding	24/33			chr7	TogoVar
LAMC1_chr1_183018420_183150592	183077776	G G	GTGTGTGT others(30): Show GTGTGTGTGTGTATATATATATATATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18944.hp1 NA18957.hp2 others(1): Show HG02080.hp1 NA18944.hp1 NA18957.hp2 NA19000.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0015 a0001c0002 a0006c0015	a0001c0002t0002 a0006c0015t0002 a0001c0002t0002 a0006c0015t0002	a0001c0002t0002g0054 a0001c0002t0002g0063 a0001c0002t0002g0078 others(1): Show a0001c0002t0002g0054 a0001c0002t0002g0063 a0001c0002t0002g0078 a0006c0015t0002g0019	4	132	0.0303	37	c.419 others(56): Show c.419-25551_419-25550insGTGTGTGTGTATATATATATATATAT ATACTGTATAT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar

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