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
CCDC141_chr2_178824757_179055137	179015551	C C	CATATATC others(199): Show CATATATCTCATATATATGATATATATCTCATATATCTCATATATATGAT ATATATATCTCATATATCTCATATATATGATATATATATCTCATATATCT CATATATATAATATATATATCTCATATATCTCATATATATGATATATATC TCATATATCTCATATATATGATATATATATCTCATATATATGATATATAT ATCTCAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG00639.hp2 others(40): Show HG00423.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG01169.hp1 HG01192.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01928.hp1 HG01981.hp1 HG02004.hp1 HG02055.hp2 HG02109.hp1 HG02129.hp1 HG02273.hp1 HG02300.hp1 HG02572.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02922.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03688.hp2 HG03710.hp1 HG03927.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp2 NA18950.hp2 NA18954.hp1 NA18984.hp2 NA18986.hp2 NA19000.hp1 NA19058.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0002 a0007 a0008 others(4): Show a0002 a0007 a0008 a0012 a0016 a0017 a0023	a0002c0003 a0002c0006 a0002c0010 others(9): Show a0002c0003 a0002c0006 a0002c0010 a0002c0023 a0007c0015 a0007c0043 a0008c0025 a0008c0041 a0012c0024 a0016c0044 a0017c0045 a0023c0042	a0002c0003t0001 a0002c0003t0003 a0002c0003t0007 others(24): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0007 a0002c0003t0010 a0002c0003t0011 a0002c0003t0012 a0002c0003t0013 a0002c0003t0015 a0002c0003t0022 a0002c0003t0024 a0002c0003t0059 a0002c0006t0006 a0002c0010t0002 a0002c0010t0004 a0002c0010t0017 a0002c0023t0005 a0002c0023t0013 a0007c0015t0005 a0007c0015t0008 a0007c0015t0038 a0007c0043t0015 a0008c0025t0040 a0008c0041t0014 a0012c0024t0001 a0016c0044t0002 a0017c0045t0005 a0023c0042t0004	a0002c0003t0001g0230 a0002c0003t0001g0240 a0002c0003t0001g0270 others(40): Show a0002c0003t0001g0230 a0002c0003t0001g0240 a0002c0003t0001g0270 a0002c0003t0003g0235 a0002c0003t0007g0236 a0002c0003t0007g0237 a0002c0003t0010g0247 a0002c0003t0010g0264 a0002c0003t0011g0234 a0002c0003t0012g0245 a0002c0003t0013g0227 a0002c0003t0015g0231 a0002c0003t0022g0243 a0002c0003t0022g0246 a0002c0003t0024g0249 a0002c0003t0024g0250 a0002c0003t0059g0248 a0002c0006t0006g0252 a0002c0006t0006g0254 a0002c0006t0006g0255 a0002c0006t0006g0256 a0002c0006t0006g0260 a0002c0006t0006g0261 a0002c0006t0006g0268 a0002c0010t0002g0258 a0002c0010t0002g0265 a0002c0010t0002g0271 a0002c0010t0002g0272 a0002c0010t0004g0259 a0002c0010t0017g0253 a0002c0023t0005g0267 a0002c0023t0013g0238 a0007c0015t0005g0239 a0007c0015t0008g0233 a0007c0015t0038g0228 a0007c0043t0015g0229 a0008c0025t0040g0269 a0008c0041t0014g0242 a0012c0024t0001g0241 a0012c0024t0001g0244 a0016c0044t0002g0251 a0017c0045t0005g0262 a0023c0042t0004g0257	43	153	0.2810	206	c.225 others(225): Show c.225+31732_225+31733insATGAGATATATATATCATATATATGA GATATATATATCATATATATGAGATATATGAGATATATATCATATATATG AGATATATGAGATATATATATTATATATATGAGATATATGAGATATATAT ATCATATATATGAGATATATGAGATATATATATCATATATATGAGATATA TGAGATATATATCATATATATGAGATATAT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23			chr2	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTCCCC others(199): Show CCCTCCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCC TCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACC CCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	18	0.0556	206	c.-22 others(217): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGAAGGGGAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(199): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCC TCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACC CCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	18	0.0556	206	c.-22 others(217): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAA GGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(199): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCC TCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACC CCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0099 a0001c0001t0006g0099	1	18	0.0556	206	c.-22 others(217): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(199): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCC TCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACC CCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	18	0.0556	206	c.-22 others(217): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(199): Show AGGGGAGGGAGGGAAGGGAGGGAAGGGAGGGAAGGGAGGGAAGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGCAGATGGGGGCAGGGGAGGGGAGTGGAT GGGGGCAGGGGAGGGGAGGGGAGGGGGAGGGAGACCGGAAGGGGAGGGAG ACGGGGAGGGGAGGGAGACGGGGAGGGGGAGGGCAGGGGAGGGGAAGGGC AGGGGAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0240 a0001c0001t0107g0240	1	2	0.5000	206	c.727 others(223): Show c.727+1139_727+1140insCTCCCCTGCCCTTCCCCTCCCCTGCCCT CCCCCTCCCCGTCTCCCTCCCCTCCCCGTCTCCCTCCCCTTCCGGTCTCC CTCCCCCTCCCCTCCCCTCCCCTGCCCCCATCCACTCCCCTCCCCTGCCC CCATCTGCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCCTCCCTTCC CTCCCTTCCCTCCCTTCCCTCCCTCCCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CENPE_chr4_103100811_103203343	103113151	A A	AGTGTATA others(199): Show AGTGTATATATATACTTATAAGTATATAAGTGTATATATATACTTATAAG TATATAAGTGTATATATATACTTATAAGTATATAAGTGTATATATATACT TATAAGTATATAAGTGTATATATATACTTATAAGTATATAAGTGTATATA TATACTTATAAGTATATAAGTGTATATATAAGTGTATATATATACTTATA AGTATAT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01928.hp1 HG01258.hp2 HG01928.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0051 a0002c0002t0001g0028 a0002c0002t0001g0051	2	264	0.0076	206	c.754 others(225): Show c.7540+1303_7540+1304insATATACTTATAAGTATATATATACAC TTATATATACACTTATATACTTATAAGTATATATATACACTTATATACTT ATAAGTATATATATACACTTATATACTTATAAGTATATATATACACTTAT ATACTTATAAGTATATATATACACTTATATACTTATAAGTATATATATAC ACTTATATACTTATAAGTATATATATACAC	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48			chr4	TogoVar
CEP170B_chr14_104860268_104901747	104884741	C C	CGGGGGGT others(199): Show CGGGGGGTGGAGGCAATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGA ACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGG AACCGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGG GAACGGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTG GGGAACG	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA20300.hp1 HG02976.hp1 NA20300.hp1	a0003 a0003	a0003c0026 a0003c0067 a0003c0026 a0003c0067	a0003c0026t0002 a0003c0067t0002 a0003c0026t0002 a0003c0067t0002	a0003c0026t0002g0030 a0003c0067t0002g0030 a0003c0026t0002g0030 a0003c0067t0002g0030	2	263	0.0076	206	c.177 others(223): Show c.1770+192_1770+193insGGGGGGTGGAGGCAATGCCGGGGGTGGC GAGTGAGAGCCCTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGG CGAGTGAGAGCCCTCGTGGGGAACCGGGGGTGGAGGTGATGCCGGGGGTG GCGAGTGAGAGCCCTCGTGGGGAACGGGGGGGTGGAGGTGATGCCGGGGG TGGCGAGTGAGAGCCCTCGTGGGGAACG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18			chr14	TogoVar
CERT1_chr5_75372775_75516629	75503873	T T	TAATTTAA others(199): Show TAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTAAATTAAACATTT AAATTTTTTGTTTAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTA AATTAAACATTTAAATTTTTTGTTTAATTTAAACATTTAAATTAAATGTT TAATTTAAATTAAACATTAAATTTTTTGTTTAATTTAAATTAAACATTTA AATTAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03098.hp2 HG02486.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0268 a0001c0001t0005g0269	2	90	0.0222	206	c.231 others(223): Show c.231+2108_231+2109insTTTAATTTAAATGTTTAATTTAAATTAA ACAAAAAATTTAATGTTTAATTTAAATTAAACATTTAATTTAAATGTTTA AATTAAACAAAAAATTTAAATGTTTAATTTAAATTAAACAAAAAATTTAA ATGTTTAATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAATTAAA CAAAAAATTTAAATGTTTAATTTAAATT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	2/16			chr5	TogoVar
CFAP61_chr20_20047532_20365698	20320378	T T	TATATTAT others(199): Show TATATTATATATGTAATATAATATATGTAATATATATTATATATGTAATA TATATTATATATATTATATATGTAATATATATTATATATATTATATATAT TATATATGCAATATATATTATATATATTATATATGCAATATATATTATAT ATATTATATATGCAATATATATTATATATTACATATGTTATATATATTAT ATATTAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0018 a0018	a0018c0042 a0018c0042	a0018c0042t0003 a0018c0042t0003	a0018c0042t0003g0128 a0018c0042t0003g0128	1	229	0.0044	206	c.342 others(227): Show c.3423-21449_3423-21448insTATATATGTAATATAATATATGTA ATATATATTATATATGTAATATATATTATATATATTATATATGTAATATA TATTATATATATTATATATATTATATATGCAATATATATTATATATATTA TATATGCAATATATATTATATATATTATATATGCAATATATATTATATAT TACATATGTTATATATATTATATATTACATAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHCHD6_chr3_126699240_126965420	126862690	T T	TCCACCAT others(199): Show TCCACCATCACCTCTTCCTCCACCATCACCACCTCCCCCTCCTCCACCAT CACCACCTCACCCTCTTCCACCATCACCAACCTCCCCCCTCCTCCACCAT CACCACCTCCCCCTCCATGACCATCACCACCTCCCCCTTCACTACCAGCA CCACCTCCCTCTTCACCACCATCACCACTTCCCCCTCCTCCACCATCACC ACCTCCC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	211	0.0047	206	c.495 others(223): Show c.495+9962_495+9963insACCATCACCTCTTCCTCCACCATCACCA CCTCCCCCTCCTCCACCATCACCACCTCACCCTCTTCCACCATCACCAAC CTCCCCCCTCCTCCACCATCACCACCTCCCCCTCCATGACCATCACCACC TCCCCCTTCACTACCAGCACCACCTCCCTCTTCACCACCATCACCACTTC CCCCTCCTCCACCATCACCACCTCCCCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLPTM1L_chr5_1312752_1350099	1329498	A A	AGCCTCAG others(199): Show AGCCTCAGGACTCTCTGCTTGGTGGACAGGGCCTCAGGACTCTCTGCTTG GTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGACTC TCTGCCTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCT CAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGACTCACCACTGCTTGGT GGACAGG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18984.hp1 NA18998.hp1 NA18951.hp1 NA18984.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0105 a0001c0001t0001g0176 a0001c0001t0001g0177	3	360	0.0083	206	c.108 others(223): Show c.1080+781_1080+782insCCTGTCCACCAAGCAGTGGTGAGTCCTG AGGCCCTGTCCACCAGGCAGAGAGTCCTGAGGCCCTGTCCACCAGGCAGA GAGTCCTGAGGCCCTGTCCACCAGGCAGAGAGTCCTGAGGCCCTGTCCAC CAGGCAGAGAGTCCTGAGGCCCTGTCCACCAAGCAGAGAGTCCTGAGGCC CTGTCCACCAAGCAGAGAGTCCTGAGGC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1333370	C C	CTGTAGAC others(199): Show CTGTAGACACACCGGATGAGGATAAGGGGGGACTACTGTATACACACCGG ATGAGGATAAGGGGGGACTACTGTATACACACCAGATGAAGATAAGGGGG GACTACTGTAGATACACGGGATGAGGATAAGGGGGGACTACTGTATACAC ACCGGATGAGGATAAGGGGGACTACTGTAAACACACGGGATGAGGATGAG GGACTAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG02055.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0212 a0001c0001t0002g0213	2	362	0.0055	206	c.891 others(221): Show c.891+918_891+919insATAGTCCCTCATCCTCATCCCGTGTGTTTA CAGTAGTCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTA TCCTCATCCCGTGTATCTACAGTAGTCCCCCCTTATCTTCATCTGGTGTG TATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCC CCTTATCCTCATCCGGTGTGTCTACA	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLSTN2_chr3_139930185_140582397	139955612	C C	CTACTGAC others(199): Show CTACTGACAAGGTCCTGTACATGGTCTCCACATGGCATTCAGCTTCCTGA CTGGATCATGGTAGGGACAAAAATAACATCATTTAATGTTTGTAGTCCAG TGGATTGGGCTCCACCAAACTGGCTAGAGTATTTATTATGGTCAATGCTG ATGTGTCAGAGATAAAATGACTTCAGGATGGTTATGCTTCTTACCTAGTG GATCAGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00735.hp2 others(83): Show HG00621.hp1 HG00621.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18977.hp1 NA18977.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA19079.hp2 NA19087.hp1 NA19087.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0006 others(17): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008 a0001c0009 a0001c0014 a0001c0015 a0001c0018 a0001c0019 a0002c0002 a0002c0004 a0002c0005 a0002c0007 a0002c0010 a0002c0017 a0002c0021 a0002c0022 a0004c0012 a0005c0013 a0006c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0025 a0001c0001t0029 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0003t0003 a0001c0003t0007 a0001c0003t0012 a0001c0003t0019 a0001c0003t0020 a0001c0006t0002 a0001c0006t0004 a0001c0006t0031 a0001c0008t0009 a0001c0008t0016 a0001c0009t0010 a0001c0009t0018 a0001c0009t0022 a0001c0014t0032 a0001c0015t0001 a0001c0018t0002 a0001c0019t0021 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0011 a0002c0002t0028 a0002c0002t0033 a0002c0002t0040 a0002c0004t0001 a0002c0004t0007 a0002c0004t0017 a0002c0004t0037 a0002c0004t0038 a0002c0005t0001 a0002c0005t0004 a0002c0007t0003 a0002c0010t0003 a0002c0010t0023 a0002c0010t0024 a0002c0017t0005 a0002c0021t0009 a0002c0022t0010 a0004c0012t0008 a0005c0013t0008 a0006c0024t0007	a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0037 others(83): Show a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0002g0033 a0001c0001t0002g0107 a0001c0001t0005g0035 a0001c0001t0006g0025 a0001c0001t0006g0040 a0001c0001t0006g0055 a0001c0001t0006g0057 a0001c0001t0007g0084 a0001c0001t0011g0031 a0001c0001t0013g0017 a0001c0001t0014g0001 a0001c0001t0014g0032 a0001c0001t0025g0004 a0001c0001t0029g0016 a0001c0001t0035g0082 a0001c0001t0036g0044 a0001c0001t0039g0080 a0001c0001t0041g0047 a0001c0001t0042g0011 a0001c0003t0003g0070 a0001c0003t0003g0071 a0001c0003t0003g0081 a0001c0003t0007g0075 a0001c0003t0012g0052 a0001c0003t0012g0053 a0001c0003t0019g0062 a0001c0003t0020g0009 a0001c0006t0002g0012 a0001c0006t0004g0013 a0001c0006t0004g0098 a0001c0006t0031g0024 a0001c0008t0009g0042 a0001c0008t0016g0051 a0001c0009t0010g0110 a0001c0009t0018g0018 a0001c0009t0022g0049 a0001c0014t0032g0028 a0001c0015t0001g0021 a0001c0018t0002g0006 a0001c0019t0021g0036 a0002c0002t0001g0007 a0002c0002t0001g0022 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0074 a0002c0002t0002g0002 a0002c0002t0002g0029 a0002c0002t0002g0054 a0002c0002t0004g0106 a0002c0002t0005g0050 a0002c0002t0011g0039 a0002c0002t0028g0005 a0002c0002t0033g0008 a0002c0002t0040g0078 a0002c0004t0001g0072 a0002c0004t0007g0067 a0002c0004t0007g0085 a0002c0004t0017g0061 a0002c0004t0037g0073 a0002c0004t0038g0108 a0002c0005t0001g0034 a0002c0005t0004g0046 a0002c0005t0004g0077 a0002c0007t0003g0015 a0002c0007t0003g0043 a0002c0007t0003g0083 a0002c0010t0003g0109 a0002c0010t0023g0079 a0002c0010t0024g0023 a0002c0017t0005g0027 a0002c0021t0009g0030 a0002c0022t0010g0020 a0004c0012t0008g0014 a0004c0012t0008g0041 a0005c0013t0008g0105 a0006c0024t0007g0060	86	110	0.7818	206	c.109 others(225): Show c.109+20129_109+20130insTACTGACAAGGTCCTGTACATGGTCT CCACATGGCATTCAGCTTCCTGACTGGATCATGGTAGGGACAAAAATAAC ATCATTTAATGTTTGTAGTCCAGTGGATTGGGCTCCACCAAACTGGCTAG AGTATTTATTATGGTCAATGCTGATGTGTCAGAGATAAAATGACTTCAGG ATGGTTATGCTTCTTACCTAGTGGATCAGG	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16			chr3	TogoVar
CMIP_chr16_81439808_81716762	81704315	T T	TCCCCCTT others(199): Show TCCCCCTTACTCTCCTCCCTGCCCCCTCCCCCTCCTCCCTGTCCCCCTTA CTCTCCTCCCTGCCCCTTCACCCTCCTCCCTGCTCCCCTCACCCTCTTCC CTGCCCCCTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCT CACCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCACCCTCCT CCCTGTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0181 a0001c0001t0022g0181	1	265	0.0038	206	c.209 others(223): Show c.2091+257_2091+258insCCCCTCCTCCCTGTCCCCCTTACTCTCC TCCCTGCCCCTTCACCCTCCTCCCTGCTCCCCTCACCCTCTTCCCTGCCC CCTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCACCCT CCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCACCCTCCTCCCTGT CCCCCCTTACTCTCCTCCCTGCCCCCTC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133822	T T	TCTCTCTC others(199): Show TCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCC CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCC ACCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	215	0.0047	206	c.-42 others(217): Show c.-4222_-4221insCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCC TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTTCCCTGTCTCCACCTCCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3939		chr19	TogoVar
COL4A1_chr13_110143963_110312157	110255704	G G	GGGCAGGC others(199): Show GGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGAAGG CAAGAAGGGAGGGGGCAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAG GCAGGAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0141 a0001c0006t0001g0141	1	260	0.0038	206	c.85- others(223): Show c.85-12971_85-12970insTTCCTGCCTTCCCCTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCC TCCCTTCCTGCCTGCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCCTGCC TGCCCCCTTCCCTTCCTGCCTGCCTGCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAAG others(199): Show AAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA GGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0201 a0003c0009t0001g0201	1	180	0.0056	206	c.85- others(223): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCTTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481803	T T	TTGCTGGA others(199): Show TTGCTGGAGACACACTGTTCTGTCCCTCTGTGCTGGAGACACACTGTTCT GTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACA CACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCGTT GCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGT CCCTCCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(90): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01123.hp2 HG01167.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp1 HG02056.hp2 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02647.hp1 HG02698.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03688.hp2 HG04228.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18970.hp1 NA18971.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18986.hp2 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA19001.hp2 NA19011.hp2 NA19056.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0014 a0016 a0018 a0021 a0022 a0023	a0001c0001 a0001c0002 a0001c0003 others(36): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0001c0016 a0001c0024 a0001c0028 a0001c0029 a0001c0037 a0001c0047 a0001c0051 a0001c0052 a0001c0100 a0002c0006 a0002c0017 a0002c0035 a0002c0087 a0003c0010 a0003c0018 a0003c0044 a0004c0009 a0004c0012 a0004c0085 a0005c0020 a0005c0021 a0005c0043 a0006c0027 a0006c0033 a0008c0023 a0009c0032 a0014c0108 a0016c0104 a0018c0103 a0021c0078 a0022c0099 a0023c0048	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(67): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0044 a0001c0004t0003 a0001c0004t0004 a0001c0004t0040 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0009 a0001c0008t0001 a0001c0008t0002 a0001c0011t0003 a0001c0011t0004 a0001c0016t0001 a0001c0016t0007 a0001c0024t0002 a0001c0028t0001 a0001c0028t0002 a0001c0029t0001 a0001c0037t0020 a0001c0047t0002 a0001c0051t0004 a0001c0052t0003 a0001c0100t0001 a0002c0006t0001 a0002c0006t0004 a0002c0006t0006 a0002c0017t0002 a0002c0017t0003 a0002c0035t0003 a0002c0087t0001 a0003c0010t0004 a0003c0018t0005 a0003c0044t0004 a0004c0009t0002 a0004c0012t0004 a0004c0085t0001 a0005c0020t0006 a0005c0021t0001 a0005c0021t0041 a0005c0043t0001 a0005c0043t0002 a0006c0027t0007 a0006c0027t0039 a0006c0033t0012 a0008c0023t0001 a0008c0023t0002 a0008c0023t0009 a0009c0032t0002 a0009c0032t0003 a0014c0108t0002 a0016c0104t0006 a0018c0103t0004 a0021c0078t0003 a0022c0099t0006 a0023c0048t0005	a0001c0001t0001g0153 a0001c0001t0002g0333 a0001c0001t0003g0124 others(89): Show a0001c0001t0001g0153 a0001c0001t0002g0333 a0001c0001t0003g0124 a0001c0001t0004g0290 a0001c0001t0005g0105 a0001c0001t0006g0047 a0001c0001t0006g0083 a0001c0002t0001g0152 a0001c0002t0001g0193 a0001c0002t0001g0243 a0001c0002t0002g0286 a0001c0002t0002g0349 a0001c0002t0003g0067 a0001c0002t0003g0079 a0001c0002t0003g0127 a0001c0002t0003g0136 a0001c0002t0005g0215 a0001c0002t0005g0216 a0001c0002t0006g0046 a0001c0002t0008g0012 a0001c0003t0001g0228 a0001c0003t0002g0342 a0001c0003t0003g0049 a0001c0003t0044g0242 a0001c0004t0003g0048 a0001c0004t0004g0287 a0001c0004t0004g0331 a0001c0004t0040g0050 a0001c0005t0001g0184 a0001c0005t0002g0322 a0001c0005t0002g0334 a0001c0005t0002g0338 a0001c0005t0002g0341 a0001c0005t0003g0052 a0001c0005t0009g0013 a0001c0008t0001g0108 a0001c0008t0001g0149 a0001c0008t0002g0276 a0001c0008t0002g0344 a0001c0011t0003g0125 a0001c0011t0004g0207 a0001c0016t0001g0109 a0001c0016t0007g0159 a0001c0016t0007g0219 a0001c0016t0007g0224 a0001c0016t0007g0225 a0001c0016t0007g0235 a0001c0024t0002g0345 a0001c0028t0001g0167 a0001c0028t0002g0305 a0001c0029t0001g0161 a0001c0037t0020g0069 a0001c0047t0002g0311 a0001c0051t0004g0316 a0001c0052t0003g0141 a0001c0100t0001g0165 a0002c0006t0001g0229 a0002c0006t0004g0272 a0002c0006t0006g0070 a0002c0006t0006g0143 a0002c0006t0006g0144 a0002c0017t0002g0335 a0002c0017t0003g0126 a0002c0035t0003g0142 a0002c0087t0001g0257 a0003c0010t0004g0002 a0003c0018t0005g0117 a0003c0044t0004g0326 a0003c0044t0004g0327 a0004c0009t0002g0325 a0004c0012t0004g0300 a0004c0085t0001g0200 a0005c0020t0006g0073 a0005c0020t0006g0097 a0005c0021t0001g0211 a0005c0021t0041g0072 a0005c0043t0001g0137 a0005c0043t0002g0273 a0006c0027t0007g0177 a0006c0027t0039g0096 a0006c0033t0012g0336 a0008c0023t0001g0262 a0008c0023t0002g0313 a0008c0023t0009g0015 a0009c0032t0002g0303 a0009c0032t0003g0123 a0014c0108t0002g0323 a0016c0104t0006g0085 a0018c0103t0004g0302 a0021c0078t0003g0138 a0022c0099t0006g0059 a0023c0048t0005g0206	93	331	0.2810	206	c.275 others(223): Show c.2759-697_2759-696insTTCTGTCCCTCTGTGCTGGAGACACACT GTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGG AGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTT CCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGC TCTGTCCCTCCGTGCTGGAGACACACTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CPNE7_chr16_89570758_89602246	89587951	C C	CCGTGTCA others(199): Show CCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCAC AGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCA CCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTG TCACCCG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0005 a0003c0006t0003g0005	1	269	0.0037	206	c.928 others(221): Show c.928-719_928-718insCACCCGCGTGTCACCCACAGATACACGGCC CCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACG GCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATA CACGGCCCCCCGTGTCACCCGCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(199): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT TTCTATATATATATATATATATATATTTCTATATATATATATATATATAT ATTTCTATATATATATATATTTCTATATATATATATTTCTATATATATAT ATATTTCTATATATATATATTTCTATATATATATATTTCTATATATATAT ATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	156	0.0064	206	c.56 others(217): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATATATATATATTTCTATATATATATATATATATATATTTCTATATA TATATATATATATATATTTCTATATATATATATATTTCTATATATATATA TTTCTATATATATATATATTTCTATATATATATATTTCTATATATATATA TTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(199): Show ATATATATATATATATATATATATATTTCTATATATATATATATATATAT ATTTCTATATATATATATATATATATATATTTCTATATATATATATATAT TTCTATATATATATATATTTCTATATATATATATTTCTATATATATATAT TTCTATATATATATATTTCTATATATATATATATATTTCTATATATATAT ATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	156	0.0064	206	c.56 others(217): Show c.5645_*5646insTATATATATATATATATATATATATTTCTATATA TATATATATATATATATTTCTATATATATATATATATATATATATTTCTA TATATATATATATATTTCTATATATATATATATTTCTATATATATATATT TCTATATATATATATTTCTATATATATATATTTCTATATATATATATATA TTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CROCC2_chr2_240901336_240998311	240924079	C C	CCCCCACA others(199): Show CCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCTCACACTAACCC GGCCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCCACACTAA CCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTG ACCCGGCCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCACACT AACCCGG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0212 a0007c0007t0001g0212	1	335	0.0030	206	c.488 others(223): Show c.488+1438_488+1439insACACTAATCCGGCCCCCACACTAACCCG GCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTGAC CCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTA ACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCACACT AACCCGGCCCCCACACTAACCCGGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924603	C C	CCCCCACA others(199): Show CCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCC AGCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAAC CCGGCCCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCACACTA ACCCGGTCCCCACACTGACCCAGTCCCCACACTAACCCGGCCCCCACACT AACCCAG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG04199.hp1 HG03239.hp2 HG04199.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0001 a0003c0003t0001 a0004c0004t0001	a0003c0003t0001g0062 a0004c0004t0001g0056 a0003c0003t0001g0062 a0004c0004t0001g0056	2	339	0.0059	206	c.489 others(223): Show c.489-1117_489-1116insACACTGACCCAGCCCCCACACTAACCCG GCCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTAACC CAGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCAACACTA ACCCAGCCCCCACACTAACCCGGTCCCCACACTGACCCAGTCCCCACACT AACCCGGCCCCCACACTAACCCAGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSMD1_chr8_2930361_4999914	3558369	G G	GTGCCTCA others(199): Show GTGCCTCAATGGTACCCCGTGTCCACTCCTGCAATGATGAATGCCTCAGT AGTACCCCGTGTCCACTTCTCCAATGATGAATGGTGCCTCAATGGTACCC CGTGTCCACTCCTCCAATGATGAATGCCTCAGTAGTACCCCGTGTCCACT TCTCCAATGATGAATGGTGCCTCAATGGTACCCCGTGTCCACTCCTCCAA TGATGAA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0016 a0002c0012t0016	a0002c0012t0016g0088 a0002c0012t0016g0088	1	121	0.0083	206	c.134 others(227): Show c.1344+16575_1344+16576insTTCATCATTGGAGGAGTGGACACG GGGTACCATTGAGGCACCATTCATCATTGGAGAAGTGGACACGGGGTACT ACTGAGGCATTCATCATTGGAGGAGTGGACACGGGGTACCATTGAGGCAC CATTCATCATTGGAGAAGTGGACACGGGGTACTACTGAGGCATTCATCAT TGCAGGAGTGGACACGGGGTACCATTGAGGCA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(199): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGG GAGGGGGAGGGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGACGGGGAGG GGAGGGGGAGGGGGAGGGGGAGGGGACGGGGAGGGGAGGGGGAGGGGGAG GGGGGGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0084 a0002c0084	a0002c0084t0017 a0002c0084t0017	a0002c0084t0017g0087 a0002c0084t0017g0087	1	16	0.0625	206	c.416 others(227): Show c.416-142659_416-142658insCCCCCCCCTCCCCCTCCCCCTCCC CTCCCCGTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCGTCCCCTCCC CCTCCTCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCACATCCCCCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSTF3_chr11_33079584_33166480	33148534	T T	TAAAAATA others(199): Show TAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18747.hp1 HG04115.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0246 a0001c0001t0001g0249	2	340	0.0059	206	c.28- others(221): Show c.28-6549_28-6548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTTTTTGTATTTTT	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding	1/20			chr11	TogoVar
CUL4A_chr13_113204613_113272108	113232020	A A	ACCACTAC others(199): Show ACCACTACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTC ACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCA TTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCC CACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCAC CACCCGC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	324	0.0031	206	c.513 others(223): Show c.513-1153_513-1152insTACCATTACTGCTGCCACCACTACCCGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACC ACCATTACTGTCACCACCACCCGCCCAC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232201	C C	CGCCCACC others(199): Show CGCCCACCACTATTACTGTCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCAT TACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCC ACCACTATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACC ACTACCT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	327	0.0031	206	c.513 others(221): Show c.513-967_513-966insTATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACTATTACTGCTGCCACCACTACCCGCCCACCACCAT TACTGTCACCACTACCTGCCCACCAC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CXorf51A_chrX_146809106_146819744	146812157	G G	GTATATAC others(199): Show GTATATACACATATATACACATGTGTATATATGTATATACACATATATAT GTGTACACATATATATATGTATACATATATATATGTATATATATGTATAT ATATATATATGTACACATATATATATGTGTACACATATATATGTGTGTAT ATACATATATACACATATATGTACACATATATGTGTGTATATACATATAT ACACATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	256	0.0039	206	c.20 others(217): Show c.2049_*2050insTATGTGTATATATGTATATACACACATATATGTG TACATATATGTGTATATATGTATATACACACATATATATGTGTACACATA TATATATGTGTACATATATATATATATACATATATATACATATATATATG TATACATATATATATGTGTACACATATATATGTGTATATACATATATACA CATGTGTATATATGTGTATATA	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1948		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146812157	G G	GTATATAC others(199): Show GTATATACACATATATACACATGTGTATATATGTATATACACATATATAT GTGTACACATATATATATGTATACATATATATATGTATATATATGTGTAT ATATATATATGTACACATATATATATGTGTACACATATATATGTGTGTAT ATACATATATACACATATATGTACACATATATGTGTGTATATACATATAT ACACATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	256	0.0039	206	c.20 others(217): Show c.2049_*2050insTATGTGTATATATGTATATACACACATATATGTG TACATATATGTGTATATATGTATATACACACATATATATGTGTACACATA TATATATGTGTACATATATATATATACACATATATATACATATATATATG TATACATATATATATGTGTACACATATATATGTGTATATACATATATACA CATGTGTATATATGTGTATATA	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1948		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812157	G G	GTATATAC others(199): Show GTATATACACATATATACACATGTGTATATATGTATATACACATATATAT GTGTACACATATATATATGTATACATATATATATGTATATATATGTATAT ATATATATATGTACACATATATATATGTGTACACATATATATGTGTGTAT ATACATATATACACATATATGTACACATATATGTGTGTATATACATATAT ACACATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	259	0.0039	206	c.18 others(217): Show c.1849_*1850insTATATACACATATATACACATGTGTATATATGTA TATACACATATATATGTGTACACATATATATATGTATACATATATATATG TATATATATGTATATATATATATATGTACACATATATATATGTGTACACA TATATATGTGTGTATATACATATATACACATATATGTACACATATATGTG TGTATATACATATATACACATA	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1747		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812157	G G	GTATATAC others(199): Show GTATATACACATATATACACATGTGTATATATGTATATACACATATATAT GTGTACACATATATATATGTATACATATATATATGTATATATATGTGTAT ATATATATATGTACACATATATATATGTGTACACATATATATGTGTGTAT ATACATATATACACATATATGTACACATATATGTGTGTATATACATATAT ACACATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	259	0.0039	206	c.18 others(217): Show c.1849_*1850insTATATACACATATATACACATGTGTATATATGTA TATACACATATATATGTGTACACATATATATATGTATACATATATATATG TATATATATGTGTATATATATATATGTACACATATATATATGTGTACACA TATATATGTGTGTATATACATATATACACATATATGTACACATATATGTG TGTATATACATATATACACATA	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1747		chrX	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(199): Show ATATATATATGTGTATATATATATATATATATATATATGTGTGTATATAT ATATATATATATGTGTATATATATATATATATATATGTGTATATATATAT ATATATATATGTGTATATATATATATATATATATATGTATATATATATGT GTATATATATATATATATATATATATGTGTATATATATATATATATATAT ATATATG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0121 a0002c0002t0121	a0002c0002t0121g0204 a0002c0002t0121g0204	1	218	0.0046	206	c.290 others(221): Show c.290-150_290-149insTATATATGTGTATATATATATATATATATA TATATGTGTGTATATATATATATATATATGTGTATATATATATATATATA TATGTGTATATATATATATATATATATGTGTATATATATATATATATATA TATGTATATATATATGTGTATATATATATATATATATATATATGTGTATA TATATATATATATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP3A5_chr7_99643194_99684996	99675633	T T	TCCCCACT others(199): Show TCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCCTTCCCCTCC CCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCC TCTCCTCTCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTC CCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCC CCCTCCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	260	0.0038	206	c.165 others(221): Show c.165+481_165+482insGGGAGGGGGGAGGAGGGGAGGGGAGGGGGG AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAG GGGGGAGGAGGGGAGGGGGAGAGGAGAGGGGAGGGGAGGGGAGAGGAGAG GGGAGGGGAGGGGGAGAGGAGAGGAGGGGAGGGGAAGGGGGAGGGGAGAG GGGAGGGGGAGGGGAGAGGAGTGGGG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
DCC_chr18_52335197_53540899	53429030	A A	AATAAATT others(199): Show AATAAATTATATATTATATATTTTATATATAATAAATTATATATTATATA TTTTATATATAATAAATTATATTATATATTTTATATATAATAAATTATAT ATTATATATTTTATATATAATAAATTATATATTATATATTTTATATATAA TAAATTATATATTATATATAATAAATTATATATAACATATATATTTATAT ATAACAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0014 a0002c0004t0014	a0002c0004t0014g0043 a0002c0004t0014g0043	1	82	0.0122	206	c.316 others(225): Show c.3164-6111_3164-6110insAATTATATATTATATATTTTATATAT AATAAATTATATATTATATATTTTATATATAATAAATTATATTATATATT TTATATATAATAAATTATATATTATATATTTTATATATAATAAATTATAT ATTATATATTTTATATATAATAAATTATATATTATATATAATAAATTATA TATAACATATATATTTATATATAACATATA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCLK2_chr4_150073445_150262438	150251210	C C	CTCCCCAC others(199): Show CTCCCCACACCCCCCACATCCCCACACCCCCATCCCCCACACTCCCCACA CCCCCCACACCCCCCACATCCCCACACCCCCCACACCCCCCACACCCCCA TACCCCCCACACCCCCAACACCCCCACACCCCCACACACCCCACACCCCC CACATCCCCACACACCACAAATCCTCCACACCCCCCACACCCCCCACACC CCCATCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0075 a0004c0005t0001g0075	1	107	0.0093	206	c.207 others(225): Show c.2073+1526_2073+1527insTCCCCACACCCCCCACATCCCCACAC CCCCATCCCCCACACTCCCCACACCCCCCACACCCCCCACATCCCCACAC CCCCCACACCCCCCACACCCCCATACCCCCCACACCCCCAACACCCCCAC ACCCCCACACACCCCACACCCCCCACATCCCCACACACCACAAATCCTCC ACACCCCCCACACCCCCCACACCCCCATCT	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DEPDC1B_chr5_60591912_60705166	60667890	A A	AAATGGAT others(199): Show AAATGGATATTTTATATATAAAATGGATATTTTATATATATAAAATGGAT ATTTTATATATATAAAATGGATATTTTATATATATATAAAATGGATATTT TATATATATATAAAATGGATATTTTATATATATATAAAATGGATATTTTA TATATATATAAAATGGATATTTTATATATATATAAAATGGATATTTTATA TATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	280	0.0036	206	c.314 others(225): Show c.314+19071_314+19072insATATATATATAAAATATCCATTTTAT ATATATATAAAATATCCATTTTATATATATATAAAATATCCATTTTATAT ATATATAAAATATCCATTTTATATATATATAAAATATCCATTTTATATAT ATATAAAATATCCATTTTATATATATAAAATATCCATTTTATATATATAA AATATCCATTTTATATATAAAATATCCATT	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60668061	T T	TTATATAT others(199): Show TTATATATATATAAAATGGATATTTTATATATATATAAAATGGATATTTT ATATATATATATAAAATGGATATTTTATATATATATATAAAATGGATATT TTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGATA TTTTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGA TATTTTA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	249	0.0040	206	c.314 others(225): Show c.314+18900_314+18901insTAAAATATCCATTTTATATATATATA TAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATATA TATAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATA TATATAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATA TATATAAAATATCCATTTTATATATATATA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(199): Show TCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCT CCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	218	0.0046	206	c.101 others(225): Show c.101-32145_101-32144insCTCCCCCCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DLGAP2_chr8_732628_1713476	1350588	C C	CTGTGCGT others(199): Show CTGTGCGTGGAAAGGCCGTGCGGGTCCTGAGTGTGCGTGGAAAGGCCGTG CGGGTCCTGACTGTGTGTGGAAAGGCCGTGCGGGTCCTGACTGTGTGTGG AAAGGACGTGCGGGTCCTGAGTGTGCGTGGAAAGGCCGTGCGGGTCCTGA CTGTGGAAAGGCCGTGCGGGTCCTGACTGTGCGTGGAAAGGCCGTGCGGG TCCTGAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp2 HG00639.hp1 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0023 a0001c0002t0001 a0001c0002t0023	a0001c0002t0001g0019 a0001c0002t0023g0005 a0001c0002t0001g0019 a0001c0002t0023g0005	2	34	0.0588	206	c.106 others(225): Show c.106+91722_106+91723insTGCGGGTCCTGAGTGTGCGTGGAAAG GCCGTGCGGGTCCTGACTGTGTGTGGAAAGGCCGTGCGGGTCCTGACTGT GTGTGGAAAGGACGTGCGGGTCCTGAGTGTGCGTGGAAAGGCCGTGCGGG TCCTGACTGTGGAAAGGCCGTGCGGGTCCTGACTGTGCGTGGAAAGGCCG TGCGGGTCCTGAGTGTGCGTGGAAAGGCCG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32554924	A A	AGAAAGAA others(199): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGA AAGAAAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0036 a0008c0011t0001g0036	1	96	0.0104	206	c.199 others(225): Show c.1993-9591_1993-9590insCTTTCTTTCTTTCCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33010062	A A	ATGTACAC others(199): Show ATGTACACATGTGTGTGCACATGTGTATGTACACATGTGTGTGCACATGT GTATGTACACATGTGTGTGCACATGTGTATGTACACATGTGTGTGCACAT GTGTATGTACACATGTGTGTGCACATGTGTATGTACACATGTGTGTGCAC ATGTGTATGTACACATGTGTGTGCACATGTGTATGTACACATGTGTGTGC ACATGTG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0093 a0001c0002t0010g0093	1	113	0.0088	206	c.93+ others(223): Show c.93+10076_93+10077insCACATGTGCACACACATGTGTACATACA CATGTGCACACACATGTGTACATACACATGTGCACACACATGTGTACATA CACATGTGCACACACATGTGTACATACACATGTGCACACACATGTGTACA TACACATGTGCACACACATGTGTACATACACATGTGCACACACATGTGTA CATACACATGTGCACACACATGTGTACA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DNAH17_chr17_78418697_78582396	78478154	C C	CCATTATC others(199): Show CCATTATCACCATCATATCACCACCACCATCACTATCATAACTATCACCA CCACCATCATCACCACCATCATCACCACCATCACCATTATCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCATCATTATCTCCACCATCACCACCACGTGGCATCATCACATCACCA TCATCAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19240.hp2 NA20129.hp2 HG03516.hp2 NA19240.hp2 NA20129.hp2	a0001 a0108 a0136 a0001 a0108 a0136	a0001c0113 a0108c0224 a0136c0018 a0001c0113 a0108c0224 a0136c0018	a0001c0113t0001 a0108c0224t0001 a0136c0018t0001 a0001c0113t0001 a0108c0224t0001 a0136c0018t0001	a0001c0113t0001g0098 a0108c0224t0001g0120 a0136c0018t0001g0012 a0001c0113t0001g0098 a0108c0224t0001g0120 a0136c0018t0001g0012	3	229	0.0131	206	c.799 others(223): Show c.7992+870_7992+871insATGATGATGGTGATGTGATGATGCCACG TGGTGGTGATGGTGGAGATAATGATGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATAATGGTGAT GGTGGTGATGATGGTGGTGATGATGGTGGTGGTGATAGTTATGATAGTGA TGGTGGTGGTGATATGATGGTGATAATG	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	51/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78541043	G G	GGGGTGGG others(199): Show GGGGTGGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGGTGA GCGGGGTGGGGGGGTGAGCGGGGTGCGGGGGTGAGCGGGGTGCGGGGGTG AGCGGTGGTGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGG TGAGCGGGGTGGGGGGATGAGCAGGTGGGGGGGTGAGGCGGGGTGGGGGG ATGAGCA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0002 a0005c0012t0002	a0005c0012t0002g0222 a0005c0012t0002g0222	1	250	0.0040	206	c.253 others(225): Show c.2533-1164_2533-1163insTGCTCATCCCCCCACCCCGCCTCACC CCCCCACCTGCTCATCCCCCCACCCCGCTCACCCCCCCACCCCGCTCACC CCCCCACCCCGCTCACCCCCCCACCACCGCTCACCCCCGCACCCCGCTCA CCCCCGCACCCCGCTCACCCCCCCACCCCGCTCACCCCCCCACCCCGCTC ACCCCCCCACCCCGCTCACCCCCCCCACCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAI7_chr12_25103289_25200160	25174371	G G	GATATATA others(199): Show GATATATATATGATATATATATCCCATATATATGATATATATATGATATA TATATGATATATATATCCCATATATATGATATATATATGATATATATATC CCATATATATGATATATATATGATATATATATGGGATATATATATCATAT ATATATCATATATATGGGATATATATATCATATATATATGGGATATATAT ATCATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0263 a0002c0002t0001g0263	1	55	0.0182	206	c.22- others(223): Show c.22-13175_22-13174insATATGATATATATATCCCATATATATAT GATATATATATCCCATATATATGATATATATATGATATATATATCCCATA TATATATCATATATATATCATATATATGGGATATATATATCATATATATA TCATATATATGGGATATATATATCATATATATATCATATATATATCATAT ATATGGGATATATATATCATATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DNAI7_chr12_25103289_25200160	25174371	G G	GATATATA others(199): Show GATATATATATGATATATATATGATATATATATCCCATATATATGATATA TATATGATATATATATCCCATATATATGATATATATATGATATATATATC CCATATATATGATATATATATGATATATATATGGGATATATATATCATAT ATATATCATATATATGGGATATATATATCATATATATATGGGATATATAT ATCATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0305 a0002c0002t0001g0305	1	55	0.0182	206	c.22- others(223): Show c.22-13175_22-13174insATATGATATATATATCCCATATATATAT GATATATATATCCCATATATATGATATATATATGATATATATATCCCATA TATATATCATATATATATCATATATATGGGATATATATATCATATATATA TCATATATATGGGATATATATATCATATATATATCATATATATGGGATAT ATATATCATATATATATCATATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DOCK10_chr2_224760090_225047468	225018621	T T	TTATATAT others(199): Show TTATATATATAATATATATGTAATATTACATATATATATAATATATATGT AATATTATATATATAATATATATGTAATATTATATATATATAATATATAT GTAATATTATATATATAATATATATGTAATATTATATATATAATATATAT GTAATATTATATATATAATATATGTAATATTATATATATAATATATATGT AATATTA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0074 a0002c0007t0003g0074	1	158	0.0063	206	c.123 others(225): Show c.123+23630_123+23631insTAATATTACATATATATTATATATAT AATATTACATATATTATATATATAATATTACATATATATTATATATATAA TATTACATATATATTATATATATAATATTACATATATATTATATATATAT AATATTACATATATATTATATATATAATATTACATATATATTATATATAT ATGTAATATTACATATATATTATATATATA	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DOCK4_chr7_111721110_112211399	111838187	T T	TAGAAATT others(199): Show TAGAAATTGAAAGGCTGAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG AGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	106	0.0094	206	c.273 others(225): Show c.2737-3502_2737-3501insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGGGATCTCGGCTCACTGCAAGCTCCTCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTCAGCCTTTCAATTTCT	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	25/52			chr7	TogoVar
DOP1A_chr6_83062671_83173471	83145181	G G	GTATATAT others(199): Show GTATATATATATAATATATATATAATATATATAATATGTATTATATATAT AATATGTAATATATATAATATGTATTATAATATATATATAATATATAATA TATAATATATATATAATAAATATATATAATATATATATAATATATATATT TAAAAGTATATATATATATATAATATATATATATATAATATATATATATA TAATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0250 a0003c0003t0001g0250	1	275	0.0036	206	c.554 others(223): Show c.5542-333_5542-332insTAATATATATATAATATATATAATATGT ATTATATATATAATATGTAATATATATAATATGTATTATAATATATATAT AATATATAATATATAATATATATATAATAAATATATATAATATATATATA ATATATATATTTAAAAGTATATATATATATATAATATATATATATATAAT ATATATATATATAATATATATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar

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