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
CEP170B_chr14_104860268_104901747	104884896	C C	CGGGGGGG others(97): Show CGGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGG AACGGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGG GGAAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	301	0.0033	104	c.177 others(121): Show c.1770+250_1770+353dupGTGGAGGTGATGCCGGGGGTGGCGAGTG AGAGCCCTCGTGGGGAACGGGGGGGTGGAGGTGATGCCGGGGGTGGCGAG TGAGAGCCCTCGTGGGGAACGGGGGG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP72_chr5_607340_658553	649865	C C	CCACGAGG others(97): Show CCACGAGGCATGGACTGTGAGATGGGACTGTGAGGTATGTGACCATGGGG TGTGGGCTGTGAGGTATCAACCCTGAGTGTGAGGTGTGACTGTGAGGTGT GACTG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp2 HG03688.hp1 others(2): Show HG02683.hp1 HG02683.hp2 HG03688.hp1 NA20752.hp2 NA20905.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0007 a0002c0002 a0005c0007	a0002c0002t0001 a0005c0007t0001 a0002c0002t0001 a0005c0007t0001	a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0001g0076 others(2): Show a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0001g0076 a0002c0002t0001g0084 a0005c0007t0001g0074	5	72	0.0694	104	c.177 others(123): Show c.1778+1949_1778+1950insCACGAGGCATGGACTGTGAGATGGGA CTGTGAGGTATGTGACCATGGGGTGTGGGCTGTGAGGTATCAACCCTGAG TGTGAGGTGTGACTGTGAGGTGTGACTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CFAP61_chr20_20047532_20365698	20337282	A A	ATGGATGG others(97): Show ATGGATGGATGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGGTGGATGGATAAATGGATGGATGGATGGATGGATAGATGG GTGGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02683.hp1 HG01099.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0091 a0001c0001t0003g0095 a0001c0001t0002g0091 a0001c0001t0003g0095	2	233	0.0086	104	c.342 others(123): Show c.3423-4540_3423-4539insGGATGGATGGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGGTGGATGGATAAATGGATGGATGGAT GGATGGATAGATGGGTGGGTGGATGGAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP74_chr1_1916957_2008786	1924223	G G	GACCACCC others(97): Show GACCACCCCCCAGCTCACAGCCCACCCCACCATCTCACCGCCCAGCCCCC CCATCTCACCAGCTGCCCCCTCCCCGGCACACCGCCCACCCCCCCCATCT CACCA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0265 a0003c0004t0002g0265	1	49	0.0204	104	c.423 others(121): Show c.4234+167_4234+168insTGGTGAGATGGGGGGGGTGGGCGGTGTG CCGGGGAGGGGGCAGCTGGTGAGATGGGGGGGCTGGGCGGTGAGATGGTG GGGTGGGCTGTGAGCTGGGGGGTGGT	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	34/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1924223	G G	GACCACCC others(97): Show GACCACCCCCCAGCTCACAGCCCACCCCACCATCTCACCGCCCAGCCCCC CCCATCTCACCAGCTGCCCCCTCCCCGGCACACCGCCCACCCCCCCATCT CACCA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0061 a0003c0005t0002g0061	1	49	0.0204	104	c.423 others(121): Show c.4234+167_4234+168insTGGTGAGATGGGGGGGTGGGCGGTGTGC CGGGGAGGGGGCAGCTGGTGAGATGGGGGGGGCTGGGCGGTGAGATGGTG GGGTGGGCTGTGAGCTGGGGGGTGGT	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	34/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1924223	G G	GACCACCC others(97): Show GACCACCCCCCAGCTCACAGCCCACCCCCCCATCTCACCGCCCAGCCCCC CCATCTCACCAGCTGCCCCCTCCCCGGCACACCGCCCACCCCCCCCATCT CACCA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0032 a0032	a0032c0048 a0032c0048	a0032c0048t0001 a0032c0048t0001	a0032c0048t0001g0119 a0032c0048t0001g0119	1	49	0.0204	104	c.423 others(121): Show c.4234+167_4234+168insTGGTGAGATGGGGGGGGTGGGCGGTGTG CCGGGGAGGGGGCAGCTGGTGAGATGGGGGGGCTGGGCGGTGAGATGGGG GGGTGGGCTGTGAGCTGGGGGGTGGT	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	34/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1924223	G G	GACCACCC others(97): Show GACCACCCCCCAGCTCACAGCCCACCCCCCCATCTCACCGCCCAGCCCCC CCATCTCACCAGCTGCCCCCTCCCGGGCACACCGCCCACCCCCCCCATCT CACCA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG04204.hp2 NA20752.hp2 HG00609.hp1 HG04204.hp2 NA20752.hp2	a0002 a0021 a0046 a0002 a0021 a0046	a0002c0006 a0021c0079 a0046c0080 a0002c0006 a0021c0079 a0046c0080	a0002c0006t0001 a0021c0079t0001 a0046c0080t0001 a0002c0006t0001 a0021c0079t0001 a0046c0080t0001	a0002c0006t0001g0242 a0021c0079t0001g0273 a0046c0080t0001g0240 a0002c0006t0001g0242 a0021c0079t0001g0273 a0046c0080t0001g0240	3	51	0.0588	104	c.423 others(121): Show c.4234+167_4234+168insTGGTGAGATGGGGGGGGTGGGCGGTGTG CCCGGGAGGGGGCAGCTGGTGAGATGGGGGGGCTGGGCGGTGAGATGGGG GGGTGGGCTGTGAGCTGGGGGGTGGT	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	34/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1924227	A A	ACCCCCCA others(97): Show ACCCCCCAGCTCACAGCCCACCCCCCCATCTCACCGCCCAGCCCCCCCAT CTCACCAGCTGCCCCCTCCCGGGCACACCGCCCACCCCCCCATCTCACCA ACCAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0001 a0006c0018t0001	a0006c0018t0001g0180 a0006c0018t0001g0180	1	275	0.0036	104	c.423 others(121): Show c.4234+163_4234+164insGTGGTTGGTGAGATGGGGGGGTGGGCGG TGTGCCCGGGAGGGGGCAGCTGGTGAGATGGGGGGGCTGGGCGGTGAGAT GGGGGGGTGGGCTGTGAGCTGGGGGG	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	34/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1949056	C C	CTTCCTTC others(97): Show CTTCCTTCCTTTCCTTTCCCTCCTTCCTCCCTCCCTCCTTTCCTTCATTC CCTTCCTTCCCCTTCCCCTTCCTTCCTTCTCTCCCTCCCTCCTTCCTTCC CTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(58): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01256.hp2 HG01258.hp1 HG01496.hp2 HG02015.hp2 HG02040.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02615.hp2 HG02630.hp2 HG02809.hp1 HG02886.hp1 HG02976.hp1 HG03041.hp1 HG03209.hp1 HG03239.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 NA18522.hp2 NA18612.hp1 NA18940.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18969.hp2 NA18971.hp2 NA18984.hp1 NA18984.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19064.hp1 NA19065.hp2 NA19085.hp1 NA19087.hp1 NA20752.hp1 NA20805.hp1	a0001 a0003 a0006 others(10): Show a0001 a0003 a0006 a0007 a0010 a0014 a0015 a0020 a0022 a0025 a0031 a0037 a0041	a0001c0003 a0001c0013 a0001c0015 others(24): Show a0001c0003 a0001c0013 a0001c0015 a0001c0035 a0001c0039 a0001c0067 a0001c0068 a0001c0069 a0001c0070 a0001c0071 a0001c0072 a0003c0008 a0006c0027 a0007c0012 a0007c0019 a0010c0011 a0010c0053 a0014c0041 a0014c0042 a0014c0043 a0015c0036 a0020c0028 a0022c0058 a0025c0086 a0031c0059 a0037c0062 a0041c0099	a0001c0003t0001 a0001c0013t0001 a0001c0015t0001 others(25): Show a0001c0003t0001 a0001c0013t0001 a0001c0015t0001 a0001c0015t0006 a0001c0035t0002 a0001c0039t0001 a0001c0067t0001 a0001c0068t0001 a0001c0069t0001 a0001c0070t0001 a0001c0071t0001 a0001c0072t0001 a0003c0008t0002 a0006c0027t0001 a0007c0012t0001 a0007c0019t0001 a0010c0011t0001 a0010c0053t0001 a0014c0041t0001 a0014c0042t0001 a0014c0043t0002 a0015c0036t0001 a0020c0028t0002 a0022c0058t0001 a0025c0086t0001 a0031c0059t0001 a0037c0062t0001 a0041c0099t0002	a0001c0003t0001g0053 a0001c0003t0001g0088 a0001c0003t0001g0091 others(58): Show a0001c0003t0001g0053 a0001c0003t0001g0088 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0097 a0001c0003t0001g0099 a0001c0003t0001g0116 a0001c0003t0001g0166 a0001c0003t0001g0192 a0001c0003t0001g0195 a0001c0003t0001g0199 a0001c0003t0001g0203 a0001c0003t0001g0210 a0001c0003t0001g0220 a0001c0003t0001g0234 a0001c0003t0001g0253 a0001c0003t0001g0254 a0001c0013t0001g0141 a0001c0013t0001g0142 a0001c0013t0001g0159 a0001c0013t0001g0264 a0001c0013t0001g0277 a0001c0015t0001g0186 a0001c0015t0001g0189 a0001c0015t0006g0243 a0001c0035t0002g0121 a0001c0039t0001g0063 a0001c0067t0001g0258 a0001c0068t0001g0235 a0001c0069t0001g0071 a0001c0070t0001g0093 a0001c0071t0001g0077 a0001c0072t0001g0062 a0003c0008t0002g0054 a0006c0027t0001g0266 a0006c0027t0001g0269 a0007c0012t0001g0043 a0007c0012t0001g0059 a0007c0012t0001g0165 a0007c0012t0001g0237 a0007c0019t0001g0111 a0007c0019t0001g0122 a0007c0019t0001g0125 a0010c0011t0001g0135 a0010c0011t0001g0204 a0010c0011t0001g0213 a0010c0011t0001g0223 a0010c0011t0001g0227 a0010c0053t0001g0219 a0014c0041t0001g0139 a0014c0042t0001g0271 a0014c0043t0002g0274 a0015c0036t0001g0163 a0015c0036t0001g0275 a0020c0028t0002g0056 a0020c0028t0002g0248 a0022c0058t0001g0222 a0025c0086t0001g0151 a0031c0059t0001g0025 a0037c0062t0001g0245 a0041c0099t0002g0144	61	267	0.2285	104	c.217 others(123): Show c.2177-2003_2177-2002insAGGAGGGAAGGAAGGAGGGAGGGAGA GAAGGAAGGAAGGGGAAGGGGAAGGAAGGGAATGAAGGAAAGGAGGGAGG GAGGAAGGAGGGAAAGGAAAGGAAGGAA	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	18/38			chr1	TogoVar
CHM_chrX_85856180_86052558	85911152	T T	TATATATG others(97): Show TATATATGTATATGTGTATATATATATATGAATATATATATATGAATATA TATATGAATATATATATGAATATATATATGAATATATATATGAATATATA TATGA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0205 a0001c0001t0009g0205	1	162	0.0062	104	c.124 others(121): Show c.1244+108_1244+109insTCATATATATATTCATATATATATTCAT ATATATATTCATATATATATTCATATATATATTCATATATATATATTCAT ATATATATATACACATATACATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHRM2_chr7_136863652_137025213	136867851	T T	TATATATA others(97): Show TATATATATATATATATATATATATATATATATATATATATATTCTGGAT ATATATATCCTGGACATATATATATATATATATTCTGGATATATATATCC TGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 NA18747.hp2 NA19065.hp2 HG01243.hp2 NA18747.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0023 a0001c0001t0003 a0001c0003t0023	a0001c0001t0003g0222 a0001c0001t0003g0238 a0001c0003t0023g0218 a0001c0001t0003g0222 a0001c0001t0003g0238 a0001c0003t0023g0218	3	293	0.0102	104	c.-14 others(115): Show c.-1424_-1423insATATATATATATATATATATATATATATATATAT ATATATATTCTGGATATATATATCCTGGACATATATATATATATATATTC TGGATATATATATCCTGGAC	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		800		chr7	TogoVar
CHRNA4_chr20_63338223_63366349	63353917	T T	TAGGGGGG others(97): Show TAGGGGGGGCTGTGGTACTGGGGGGACTGTGGTCCTAGCGGGCTGTGGTC CTGGGGGGGCTGTGGTCCTGGGGGGCTGTGGTCCTAGAGGGGCCTGTGGT CCTGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18971.hp2 HG00597.hp1 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0019 a0001c0002t0001 a0001c0005t0019	a0001c0002t0001g0108 a0001c0005t0019g0050 a0001c0002t0001g0108 a0001c0005t0019g0050	2	4	0.5000	104	c.383 others(121): Show c.383+2057_383+2058insCCAGGACCACAGGCCCCTCTAGGACCAC AGCCCCCCAGGACCACAGCCCCCCCAGGACCACAGCCCGCTAGGACCACA GTCCCCCCAGTACCACAGCCCCCCCT	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
CHTF18_chr16_783620_803074	798368	G G	GGGGCTCA others(97): Show GGGGCTCACAGGATGGTGGGAGTGGGGCCGGCAGTGGGGCTCACAGGATG GTGGGAGTGGGGCCGGGCGTGGGGCTCACAGGATAGAGTGAGTGGGGCCG GGCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0046 a0046	a0046c0053 a0046c0053	a0046c0053t0001 a0046c0053t0001	a0046c0053t0001g0234 a0046c0053t0001g0234	1	391	0.0026	104	c.39 others(113): Show c.393_*394insGGGCTCACAGGATGGTGGGAGTGGGGCCGGCAGTGG GGCTCACAGGATGGTGGGAGTGGGGCCGGGCGTGGGGCTCACAGGATAGA GTGAGTGGGGCCGGGCGT	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding		295		chr16	TogoVar
CHTF18_chr16_783620_803074	798368	G G	GGGGCTCA others(97): Show GGGGCTCACAGGATGGTGGGAGTGGGGCCGGGAGTGGGGCTCACAGGATG GTGGGAGTGGGGCCGGGCGTGGGGCTCACAGGATAGAGTGAGTGGGGCCG GGCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00642.hp1 HG02080.hp2 others(15): Show HG00558.hp2 HG00642.hp1 HG02080.hp2 HG02602.hp2 HG03669.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18950.hp2 NA18956.hp2 NA18969.hp1 NA18986.hp2 NA18991.hp1 NA19009.hp1 NA19057.hp1 NA19088.hp2	a0001 a0006 a0032 others(2): Show a0001 a0006 a0032 a0045 a0051	a0001c0001 a0006c0006 a0006c0051 others(3): Show a0001c0001 a0006c0006 a0006c0051 a0032c0052 a0045c0049 a0051c0050	a0001c0001t0001 a0006c0006t0001 a0006c0051t0001 others(3): Show a0001c0001t0001 a0006c0006t0001 a0006c0051t0001 a0032c0052t0001 a0045c0049t0001 a0051c0050t0001	a0001c0001t0001g0218 a0006c0006t0001g0015 a0006c0006t0001g0020 others(10): Show a0001c0001t0001g0218 a0006c0006t0001g0015 a0006c0006t0001g0020 a0006c0006t0001g0030 a0006c0006t0001g0077 a0006c0006t0001g0078 a0006c0006t0001g0080 a0006c0006t0001g0082 a0006c0006t0001g0083 a0006c0051t0001g0081 a0032c0052t0001g0020 a0045c0049t0001g0084 a0051c0050t0001g0079	18	408	0.0441	104	c.39 others(113): Show c.393_*394insGGGCTCACAGGATGGTGGGAGTGGGGCCGGGAGTGG GGCTCACAGGATGGTGGGAGTGGGGCCGGGCGTGGGGCTCACAGGATAGA GTGAGTGGGGCCGGGCGT	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding		295		chr16	TogoVar
CLEC10A_chr17_7069537_7085251	7077315	C C	CCCCCTCA others(97): Show CCCCCTCACCATTCCCATCAATCACTCCATCAGTGCCCCCCCACCATTCC CATCAATCACTCCATCAGTGCCCCCTCACCATTCCCATCAATCACTCCAT CAGTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02055.hp2 HG02451.hp1 others(6): Show HG01167.hp2 HG02055.hp2 HG02451.hp1 HG02559.hp1 HG02809.hp1 HG02818.hp1 HG03195.hp1 NA18522.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0006 a0001c0002 a0001c0005 a0002c0006	a0001c0002t0001 a0001c0002t0024 a0001c0005t0005 others(2): Show a0001c0002t0001 a0001c0002t0024 a0001c0005t0005 a0001c0005t0007 a0002c0006t0007	a0001c0002t0001g0066 a0001c0002t0024g0116 a0001c0005t0005g0031 others(2): Show a0001c0002t0001g0066 a0001c0002t0024g0116 a0001c0005t0005g0031 a0001c0005t0007g0036 a0002c0006t0007g0028	9	424	0.0212	104	c.185 others(119): Show c.185-329_185-328insCACTGATGGAGTGATTGATGGGAATGGTGA GGGGGCACTGATGGAGTGATTGATGGGAATGGTGGGGGGGCACTGATGGA GTGATTGATGGGAATGGTGAGGGG	CLEC10A	ENSG00000132514.14	transcript	ENST00000416562.7	protein_coding	3/8			chr17	TogoVar
CLEC2B_chr12_9847369_9874354	9853083	A A	AAGAAAGA others(97): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGA AAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0104 a0001c0001t0055g0104	1	268	0.0037	104	c.21 others(113): Show c.216_*217insCTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCT	CLEC2B	ENSG00000110852.5	transcript	ENST00000228438.3	protein_coding	5/5	216		chr12	TogoVar
CLN8_chr8_1758789_1791570	1763579	C C	CCGCCGCG others(97): Show CCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCC CCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCC CCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	409	0.0024	104	c.-43 others(113): Show c.-430_-429insCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCG CCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCC GCCGCGCCCCGCCCCCCG	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		209		chr8	TogoVar
CLPTM1L_chr5_1312752_1350099	1333180	T T	TACACACG others(97): Show TACACACGGGATGAGGATGAGGGACTATTGTATACACACCAGATGAGGAT AAGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTG TATAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02615.hp2 HG03209.hp1 HG00140.hp2 HG02615.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0273 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0001g0273 a0001c0001t0003g0289 a0001c0001t0003g0290	3	365	0.0082	104	c.891 others(121): Show c.891+1108_891+1109insGTATACAGTAGTCCCCCCTTATCCTCAT CTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAA TAGTCCCTCATCCTCATCCCGTGTGT	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CNBD1_chr8_86861415_87387859	87156273	G G	GTGTGTGT others(97): Show GTGTGTGTGTGTGTGTGTATATATACATATATATATATATATATATATAT ATATATATATATATATATATATATATATATGTTGTTTTTTTTTTGAGACA GAGTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	59	0.0169	104	c.432 others(123): Show c.432-49719_432-49718insGTGTGTGTGTGTGTGTATATATACAT ATATATATATATATATATATATATATATATATATATATATATATATATAT ATGTTGTTTTTTTTTTGAGACAGAGTTT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNN2_chr19_1021608_1044065	1034304	G G	GGGAGCGT others(97): Show GGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGA CACCGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACAGTGTCTGGTGTA GACCA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01975.hp2 HG01099.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0188 a0001c0002t0004g0190 a0001c0001t0001g0188 a0001c0002t0004g0190	2	386	0.0052	104	c.390 others(121): Show c.390+1624_390+1625insGGTGTCTGGTGTAGACCGGGAGCGTGGG TGGGACACCGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACAGTGTCTG GTGTAGACCAGGAGCGTGGGTGGGAC	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNOT3_chr19_54132762_54160681	54133740	C C	CTCCCTCC others(97): Show CTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCC CTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	217	0.0046	104	c.-43 others(115): Show c.-4304_-4303insTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTC CTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGT CTCCACCTCCCCTCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		4021		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54133807	C C	CCTCTCCA others(97): Show CCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCA CCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCC TCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	170	0.0059	104	c.-42 others(115): Show c.-4237_-4236insCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCA CCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTC CCCTCTCTCTGTCCCTCCCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3954		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CTCCCTCC others(97): Show CTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCT CTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp2 NA19011.hp1 HG02015.hp1 HG02015.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0019	3	70	0.0429	104	c.-42 others(115): Show c.-4215_-4214insTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTC CTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGT CTCCACCTCCCCTCTCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CTTCCTCC others(97): Show CTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCC CTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCT CTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	68	0.0147	104	c.-42 others(115): Show c.-4215_-4214insTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCT CTCCACCTCCCCTCTCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54133838	T T	TCTCCACC others(97): Show TCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTC CACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTC CCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0142 a0001c0002t0001g0142	1	219	0.0046	104	c.-42 others(115): Show c.-4206_-4205insCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTC CACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACC TCCCCTCCCTCTGTCCCTCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3923		chr19	TogoVar
CNOT6L_chr4_77708387_77824368	77819049	G G	GACACACA others(97): Show GACACACACACACACACACACACACACACACACACACACACACCCCGGAA CCTTCGCGCGCACGCACACACACACACACACACACACACACACACACACA CACAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0303 a0001c0001t0004g0303	1	75	0.0133	104	c.5+2 others(115): Show c.5+254_5+255insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGCGTGCGCGCGAAGGTTCCGGGGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
CNR2_chr1_23865515_23918362	23899843	A A	AAAGAAAG others(97): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0227 a0001c0001t0071g0227	1	122	0.0082	104	c.-46 others(123): Show c.-46+13402_-46+13403insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNR2_chr1_23865515_23918362	23899850	A A	AGAAAGAA others(97): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	252	0.0040	104	c.-46 others(123): Show c.-46+13395_-46+13396insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTC	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNR2_chr1_23865515_23918362	23899907	G G	GAAGGAAG others(97): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAAGAAGGAAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA AGAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	40	0.0250	104	c.-46 others(123): Show c.-46+13338_-46+13339insTTTCTTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNTNAP2_chr7_146111801_148425998	146535430	T T	TTATATAA others(97): Show TTATATAATATATTAATTATATAATATAATTATATAATTAATTATATATA ATTAATTATATATAATTATTATTATTATTATATATAATAATATATATTTT ATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0004 a0001c0004t0005g0004	1	40	0.0250	104	c.98- others(123): Show c.98-238835_98-238834insATATATTAATTATATAATATAATTAT ATAATTAATTATATATAATTAATTATATATAATTATTATTATTATTATAT ATAATAATATATATTTTATATATATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148331789	G G	GTGGATGG others(97): Show GTGGATGGATAGAGTGGATGGATGGAACGGACGGATGGAATGGATGGATG GGGTAGACGGATGGAGTGGACAGGTGGAATGGACGGATGGAATGGACGGA TGGAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0016 a0001c0011t0016	a0001c0011t0016g0019 a0001c0011t0016g0019	1	4	0.2500	104	c.347 others(125): Show c.3476-51848_3476-51847insGTGGATGGATGGAACGGACGGATG GAATGGATGGATGGGGTAGACGGATGGAGTGGACAGGTGGAATGGACGGA TGGAATGGACGGATGGAATGGATGGATAGA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COA1_chr7_43634257_43734523	43644822	A A	AGAGAGAG others(97): Show AGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGGGAGAGAGAGAGAGAGAG ACAGG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	376	0.0027	104	c.264 others(119): Show c.264+428_264+429insCCTGTCTCTCTCTCTCTCTCTCCCTGTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTGTCTCTCTCTC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COBLL1_chr2_164675188_164846823	164818272	G G	GTATGTAT others(97): Show GTATGTATACATATATGTATGTATACATATGTATACATATATGTATGTAT ACATATGTATACATACATGTATGTATACATATGTATACATATATGTATGT ATACA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0047 a0001c0010t0047	a0001c0010t0047g0046 a0001c0010t0047g0046	1	176	0.0057	104	c.41+ others(121): Show c.41+22883_41+22884insTGTATACATACATATATGTATACATATG TATACATACATGTATGTATACATATGTATACATACATATATGTATACATA TGTATACATACATATATGTATACATA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164818272	G G	GTATGTAT others(97): Show GTATGTATACATATATGTATGTATACATATGTATACATATATGTATGTAT ACATATGTATACATATATGTATGTATACATATGTATACATATATGTATGT ATACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02148.hp1 HG00099.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0039 a0001c0001t0001 a0001c0001t0039	a0001c0001t0001g0044 a0001c0001t0039g0033 a0001c0001t0001g0044 a0001c0001t0039g0033	2	177	0.0113	104	c.41+ others(121): Show c.41+22883_41+22884insTGTATACATACATATATGTATACATATG TATACATACATATATGTATACATATGTATACATACATATATGTATACATA TGTATACATACATATATGTATACATA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COL18A1_chr21_45400165_45518720	45500695	T T	TGTGTTGG others(97): Show TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG GTTTG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0002 a0006c0016t0002	a0006c0016t0002g0292 a0006c0016t0002g0292	1	226	0.0044	104	c.268 others(123): Show c.2683+3038_2683+3039insTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG TGTGTAGTGTGGGGGTGTGGTTTGGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL23A1_chr5_178232618_178595393	178547999	C C	CCACACAC others(97): Show CCACACACCTACACCCACATACCCACACCCACCCCCCACACACACCCACA CACCTACACCCACATACCCACACCCACCCCCCACACACCCCCATACCCAC CCACA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02976.hp1 HG03831.hp2 HG02280.hp1 HG02976.hp1 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0142 a0002c0002t0001g0141 a0002c0002t0001g0180 a0001c0001t0003g0142 a0002c0002t0001g0141 a0002c0002t0001g0180	3	234	0.0128	104	c.361 others(123): Show c.361+12682_361+12683insTGTGGGTGGGTATGGGGGTGTGTGGG GGGTGGGTGTGGGTATGTGGGTGTAGGTGTGTGGGTGTGTGTGGGGGGTG GGTGTGGGTATGTGGGTGTAGGTGTGTG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178547999	C C	CCACACAC others(97): Show CCACACACCTACACCCACATACCCACACCCACCCCCCACACACCCCCACA CACCTACACCCACATACCCACACCCACCCCCCACACACCCCCATACCCAC CCACA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18906.hp2 HG03139.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0013 a0001c0001 a0002c0013	a0001c0001t0003 a0002c0013t0003 a0001c0001t0003 a0002c0013t0003	a0001c0001t0003g0123 a0002c0013t0003g0124 a0001c0001t0003g0123 a0002c0013t0003g0124	2	233	0.0086	104	c.361 others(123): Show c.361+12682_361+12683insTGTGGGTGGGTATGGGGGTGTGTGGG GGGTGGGTGTGGGTATGTGGGTGTAGGTGTGTGGGGGTGTGTGGGGGGTG GGTGTGGGTATGTGGGTGTAGGTGTGTG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL4A1_chr13_110143963_110312157	110253239	A A	ATATGTAC others(97): Show ATATGTACGTATTATATATACATGTAACTATATGTACGTATTATATATAC ATATAACTATATGTATGTATGTATTATATATACATATAACTATATGTATG TATGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0004 a0004	a0004c0025 a0004c0025	a0004c0025t0001 a0004c0025t0001	a0004c0025t0001g0044 a0004c0025t0001g0044	1	299	0.0033	104	c.85- others(121): Show c.85-10506_85-10505insACATACATACATATAGTTATATGTATAT ATAATACATACATACATATAGTTATATGTATATATAATACGTACATATAG TTACATGTATATATAATACGTACATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227202852	T T	TGTATATA others(97): Show TGTATATATGTGTATATATACGTATATATACATATATGTGTATATATACG TATATATACATATATGTGTATATATACGTATATATACATATATGTGTATA TATAC	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0119 a0005c0005t0002g0119	1	277	0.0036	104	c.88- others(121): Show c.88-35108_88-35107insGTGTATATATACGTATATATACATATAT GTGTATATATACGTATATATACATATATGTGTATATATACGTATATATAC ATATATGTGTATATATACGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202852	T T	TGTATATA others(97): Show TGTATATATGTGTATATATGCGTATATATACATATATGTGTATATATACG TATATATACATATATGTGTATATATACGTATATATACATATATGTGTATA TATAC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	277	0.0036	104	c.88- others(121): Show c.88-35108_88-35107insGTGTATATATGCGTATATATACATATAT GTGTATATATACGTATATATACATATATGTGTATATATACGTATATATAC ATATATGTGTATATATACGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202852	T T	TGTATATA others(97): Show TGTATATATGTGTATATATGTGTATATATACATATATGTGTATATATACG TATATATACATATATGTGTATATATACGTATATATACATATATGTGTATA TATAC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG03130.hp1 NA18951.hp2 others(4): Show HG01169.hp1 HG03130.hp1 NA18951.hp2 NA18990.hp2 NA19003.hp1 NA19063.hp1 NA20752.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0007 a0009 a0010	a0001c0001 a0003c0002 a0004c0003 others(3): Show a0001c0001 a0003c0002 a0004c0003 a0007c0006 a0009c0008 a0010c0012	a0001c0001t0001 a0003c0002t0006 a0004c0003t0004 others(3): Show a0001c0001t0001 a0003c0002t0006 a0004c0003t0004 a0007c0006t0005 a0009c0008t0001 a0010c0012t0001	a0001c0001t0001g0173 a0001c0001t0001g0231 a0003c0002t0006g0064 others(4): Show a0001c0001t0001g0173 a0001c0001t0001g0231 a0003c0002t0006g0064 a0004c0003t0004g0288 a0007c0006t0005g0227 a0009c0008t0001g0110 a0010c0012t0001g0248	7	283	0.0247	104	c.88- others(121): Show c.88-35108_88-35107insGTGTATATATGTGTATATATACATATAT GTGTATATATACGTATATATACATATATGTGTATATATACGTATATATAC ATATATGTGTATATATACGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202852	T T	TGTATATA others(97): Show TGTATATATGTGTATATATGTGTATATATACATATATGTGTATATATGTG TATATATACATATATGTGTATATATACGTATATATACATATATGTGTATA TATAC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18974.hp2 NA18959.hp2 NA18974.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0008 a0001c0001 a0009c0008	a0001c0001t0002 a0009c0008t0001 a0001c0001t0002 a0009c0008t0001	a0001c0001t0002g0304 a0009c0008t0001g0238 a0001c0001t0002g0304 a0009c0008t0001g0238	2	278	0.0072	104	c.88- others(121): Show c.88-35108_88-35107insGTGTATATATGTGTATATATACATATAT GTGTATATATGTGTATATATACATATATGTGTATATATACGTATATATAC ATATATGTGTATATATACGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202880	C C	CGTATATA others(97): Show CGTATATATACATATATGTGTATATATACATATATGTGTATATATACGTA TATATACACATATGTGTATATATACGTATATATACATATATGTGTATATA TACGT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0277 a0003c0002t0004g0277	1	167	0.0060	104	c.88- others(121): Show c.88-35088_88-35087insGTATATATACATATATGTGTATATATAC ATATATGTGTATATATACGTATATATACACATATGTGTATATATACGTAT ATATACATATATGTGTATATATACGT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202990	T T	TGTATATA others(97): Show TGTATATATACACATACATGTGTATATATACATATATGTGTATATATGTG TATATACACATATATGTGTATATATACATATATGTGTATATATGTGTATA TATAC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	286	0.0035	104	c.88- others(121): Show c.88-34978_88-34977insGTATATATACACATACATGTGTATATAT ACATATATGTGTATATATGTGTATATACACATATATGTGTATATATACAT ATATGTGTATATATGTGTATATATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202990	T T	TGTATATA others(97): Show TGTATATATACATATATGTGTATATATGTGTATATATACATATATATACA TATATGTGTATATATACGTATATATACATATATGTGTATATATACGTATA TATAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp2 HG02132.hp2 others(3): Show HG02040.hp1 HG02040.hp2 HG02132.hp2 HG02155.hp1 HG02602.hp1 NA18981.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0002 a0008c0009 a0001c0001 a0003c0002 a0008c0009	a0001c0001t0002 a0003c0002t0003 a0008c0009t0001 a0001c0001t0002 a0003c0002t0003 a0008c0009t0001	a0001c0001t0002g0082 a0001c0001t0002g0101 a0001c0001t0002g0236 others(3): Show a0001c0001t0002g0082 a0001c0001t0002g0101 a0001c0001t0002g0236 a0003c0002t0003g0092 a0003c0002t0003g0237 a0008c0009t0001g0270	6	291	0.0206	104	c.88- others(121): Show c.88-34978_88-34977insGTATATATACATATATGTGTATATATGT GTATATATACATATATATACATATATGTGTATATATACGTATATATACAT ATATGTGTATATATACGTATATATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134679639	G G	GGGGCACT others(97): Show GGGGCACTGCGGGGCTGGTTAGGGGGCACTTCAGGGCTGGTTGGGGGCAC TGCGGGGCTTCTTGGGGGCACTGTGGGGCTGGCTAGGGGCACTGTGGGGC TGGTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03927.hp2 HG04199.hp2 HG03688.hp1 HG03927.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0015 a0001c0002 a0001c0008 a0001c0015	a0001c0002t0001 a0001c0008t0003 a0001c0015t0052 a0001c0002t0001 a0001c0008t0003 a0001c0015t0052	a0001c0002t0001g0018 a0001c0008t0003g0017 a0001c0015t0052g0016 a0001c0002t0001g0018 a0001c0008t0003g0017 a0001c0015t0052g0016	3	240	0.0125	104	c.110 others(123): Show c.110-11254_110-11253insAGGGGGCACTTCAGGGCTGGTTGGGG GCACTGCGGGGCTTCTTGGGGGCACTGTGGGGCTGGCTAGGGGCACTGTG GGGCTGGTTGGGCACTGCGGGGCTGGTT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A1_chr21_45976770_46010048	45980594	C C	CCTCTCTG others(97): Show CCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTGTCTCTGTCTTTGTCTCTC TCTGTCTCTCCTCTCTCTGTGTCTCTGTCTCTCCGTCTCTGTCTGTCTCT CCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG03927.hp1 NA20805.hp1 HG00544.hp1 HG03927.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0001 a0002c0002t0008 a0002c0008t0001 a0002c0002t0001 a0002c0002t0008 a0002c0008t0001	a0002c0002t0001g0055 a0002c0002t0008g0057 a0002c0008t0001g0077 a0002c0002t0001g0055 a0002c0002t0008g0057 a0002c0008t0001g0077	3	37	0.0811	104	c.-12 others(115): Show c.-1257_-1256insCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTGTCT CTGTCTTTGTCTCTCTCTGTCTCTCCTCTCTCTGTGTCTCTGTCTCTCCG TCTCTGTCTGTCTCTCCTCT	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		1175		chr21	TogoVar
COMMD10_chr5_116080025_116298287	116158161	C C	CCTCCTCC others(97): Show CCTCCTCCTCCCTCCCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCT CTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTC TCCGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA18522.hp1 NA19030.hp2 HG00735.hp1 NA18522.hp1 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0015 a0002c0003t0001g0032 a0002c0003t0001g0039 a0002c0003t0001g0015 a0002c0003t0001g0032 a0002c0003t0001g0039	3	319	0.0094	104	c.510 others(123): Show c.510+23989_510+23990insCTCCCTCCCTCCTCTCTCTCCGTCTC CTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTC TCTCCGTCTCCTCTCTCTCCGTCTCCTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158161	C C	CCTTCCCC others(97): Show CCTTCCCCTCCCTCCCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCT CTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTC TCCGT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0107	1	317	0.0032	104	c.510 others(123): Show c.510+23985_510+23986insTCCCCTCCCTCCCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCGTCTCCTCTCTCTCCGTCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158354	C C	CCCCTCTC others(97): Show CCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCT CTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTC CCTCT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	348	0.0029	104	c.510 others(123): Show c.510+24180_510+24283dupTCTCTCCCTCTCCCCTCTCTCCCTCT CCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCT CTCTCCCTCTCCCCTCTCTCCCTCTCCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar

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