Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
COL18A1_chr21_45400165_45518720	45510946	C C	CCCACACA others(7): Show CCCACACACACACAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp1 others(71): Show HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01496.hp1 HG01517.hp2 HG01891.hp2 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03225.hp1 HG03654.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18944.hp1 NA18949.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18961.hp1 NA18964.hp1 NA18966.hp1 NA18975.hp2 NA18983.hp1 NA18995.hp1 NA18998.hp1 NA19005.hp1 NA19010.hp2 NA19012.hp2 NA19043.hp1 NA19074.hp2 NA19091.hp1 NA19091.hp2 NA20905.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0007 a0012 a0015 a0016 a0017 a0025 a0030 a0036	a0001c0002 a0001c0005 a0001c0006 others(25): Show a0001c0002 a0001c0005 a0001c0006 a0001c0029 a0001c0032 a0001c0053 a0001c0065 a0001c0095 a0001c0097 a0002c0018 a0002c0019 a0002c0088 a0003c0010 a0003c0044 a0004c0030 a0004c0080 a0005c0021 a0005c0060 a0005c0106 a0007c0111 a0012c0069 a0012c0092 a0015c0051 a0016c0089 a0017c0068 a0025c0101 a0030c0050 a0036c0041	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(31): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0017 a0001c0005t0002 a0001c0005t0006 a0001c0005t0007 a0001c0006t0002 a0001c0029t0002 a0001c0032t0002 a0001c0053t0002 a0001c0065t0002 a0001c0095t0002 a0001c0097t0011 a0002c0018t0003 a0002c0019t0002 a0002c0088t0002 a0003c0010t0002 a0003c0010t0006 a0003c0044t0006 a0004c0030t0002 a0004c0080t0002 a0005c0021t0002 a0005c0060t0002 a0005c0106t0003 a0007c0111t0002 a0012c0069t0002 a0012c0092t0002 a0015c0051t0002 a0016c0089t0002 a0017c0068t0002 a0025c0101t0011 a0030c0050t0002 a0036c0041t0002	a0001c0002t0001g0080 a0001c0002t0002g0047 a0001c0002t0002g0060 others(71): Show a0001c0002t0001g0080 a0001c0002t0002g0047 a0001c0002t0002g0060 a0001c0002t0002g0074 a0001c0002t0002g0088 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0094 a0001c0002t0002g0102 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0111 a0001c0002t0002g0114 a0001c0002t0002g0117 a0001c0002t0002g0133 a0001c0002t0002g0137 a0001c0002t0002g0140 a0001c0002t0002g0178 a0001c0002t0002g0188 a0001c0002t0002g0231 a0001c0002t0002g0235 a0001c0002t0002g0238 a0001c0002t0002g0269 a0001c0002t0002g0283 a0001c0002t0006g0233 a0001c0002t0017g0216 a0001c0005t0002g0070 a0001c0005t0002g0158 a0001c0005t0002g0217 a0001c0005t0002g0224 a0001c0005t0002g0232 a0001c0005t0002g0280 a0001c0005t0006g0173 a0001c0005t0006g0218 a0001c0005t0007g0262 a0001c0005t0007g0263 a0001c0006t0002g0078 a0001c0006t0002g0161 a0001c0006t0002g0185 a0001c0006t0002g0194 a0001c0006t0002g0208 a0001c0029t0002g0285 a0001c0029t0002g0286 a0001c0032t0002g0100 a0001c0032t0002g0169 a0001c0053t0002g0164 a0001c0065t0002g0097 a0001c0095t0002g0089 a0001c0097t0011g0190 a0002c0018t0003g0156 a0002c0019t0002g0001 a0002c0019t0002g0148 a0002c0088t0002g0212 a0003c0010t0002g0068 a0003c0010t0002g0151 a0003c0010t0002g0172 a0003c0010t0006g0014 a0003c0044t0006g0242 a0004c0030t0002g0123 a0004c0030t0002g0160 a0004c0080t0002g0281 a0005c0021t0002g0138 a0005c0021t0002g0163 a0005c0060t0002g0035 a0005c0106t0003g0030 a0007c0111t0002g0003 a0012c0069t0002g0096 a0012c0092t0002g0006 a0015c0051t0002g0159 a0016c0089t0002g0106 a0017c0068t0002g0107 a0025c0101t0011g0075 a0030c0050t0002g0108 a0036c0041t0002g0015	74	292	0.2534	14	c.369 others(31): Show c.3694-160_3694-159insCACACACATCCACA	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	40/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69921513	T T	TATTCATA others(7): Show TATTCATATATATTC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0175 a0002c0003t0002g0175	1	182	0.0055	14	c.267 others(31): Show c.267-6396_267-6395insATTCATATATATTC	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50			chr6	TogoVar
COL19A1_chr6_69861556_70217468	69921658	A A	ATGTATAT others(7): Show ATGTATATAGATTCG	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA20129.hp2 HG01069.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0040 a0001c0008t0014 a0001c0002t0040 a0001c0008t0014	a0001c0002t0040g0132 a0001c0008t0014g0136 a0001c0002t0040g0132 a0001c0008t0014g0136	2	182	0.0110	14	c.267 others(31): Show c.267-6250_267-6249insGTATATAGATTCGT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	69997026	T T	TATATATA others(7): Show TATATATATATATAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0004 a0002c0009t0004	a0002c0009t0004g0176 a0002c0009t0004g0176	1	182	0.0055	14	c.102 others(35): Show c.1027-26600_1027-26599insTATATATATATAGA	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	11/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	70187332	A A	ACACACAC others(7): Show ACACACACAAACATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG00738.hp1 others(53): Show HG00099.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01099.hp2 HG01106.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01361.hp1 HG01515.hp1 HG01928.hp1 HG02040.hp1 HG02165.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp1 HG02717.hp1 HG02886.hp2 HG02896.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG03540.hp2 HG04184.hp1 HG04199.hp1 NA18941.hp2 NA18959.hp1 NA18962.hp1 NA18966.hp2 NA18979.hp1 NA18991.hp2 NA18997.hp1 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0007 others(5): Show a0001c0001 a0001c0002 a0001c0007 a0001c0012 a0002c0003 a0002c0004 a0002c0011 a0009c0023	a0001c0001t0001 a0001c0001t0022 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0022 a0001c0002t0001 a0001c0007t0005 a0001c0007t0017 a0001c0007t0033 a0001c0012t0001 a0002c0003t0011 a0002c0003t0020 a0002c0004t0001 a0002c0004t0011 a0002c0004t0019 a0002c0011t0005 a0009c0023t0001	a0001c0001t0001g0016 a0001c0001t0001g0047 a0001c0001t0001g0053 others(53): Show a0001c0001t0001g0016 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0022g0069 a0001c0002t0001g0073 a0001c0007t0005g0025 a0001c0007t0005g0084 a0001c0007t0005g0089 a0001c0007t0005g0096 a0001c0007t0005g0097 a0001c0007t0005g0126 a0001c0007t0017g0093 a0001c0007t0017g0147 a0001c0007t0033g0120 a0001c0012t0001g0056 a0001c0012t0001g0177 a0002c0003t0011g0115 a0002c0003t0020g0071 a0002c0004t0001g0008 a0002c0004t0001g0013 a0002c0004t0001g0036 a0002c0004t0001g0048 a0002c0004t0001g0068 a0002c0004t0001g0116 a0002c0004t0001g0117 a0002c0004t0001g0124 a0002c0004t0001g0161 a0002c0004t0011g0039 a0002c0004t0011g0111 a0002c0004t0019g0011 a0002c0011t0005g0021 a0002c0011t0005g0076 a0002c0011t0005g0142 a0009c0023t0001g0052	56	182	0.3077	14	c.285 others(31): Show c.2857-735_2857-734insAACATGCACACACA	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	46/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	70195136	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0025 a0004c0018t0025	a0004c0018t0025g0114 a0004c0018t0025g0114	1	182	0.0055	14	c.309 others(33): Show c.3095-4458_3095-4445dupTATATATATATATA	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	48/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	70215912	A A	AACACACA others(7): Show AACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00558.hp2 others(26): Show HG00408.hp1 HG00438.hp1 HG00558.hp2 HG00673.hp1 HG01106.hp1 HG01167.hp1 HG01175.hp2 HG01257.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp2 HG01952.hp1 HG01978.hp2 HG02074.hp1 HG02602.hp1 HG03688.hp2 HG04184.hp2 HG04228.hp2 NA18941.hp1 NA18949.hp1 NA18959.hp2 NA18962.hp2 NA19030.hp1 NA19056.hp2 NA19072.hp1 NA19074.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0012	a0001c0002 a0002c0003 a0002c0004 others(3): Show a0001c0002 a0002c0003 a0002c0004 a0005c0013 a0007c0020 a0012c0016	a0001c0002t0002 a0001c0002t0008 a0002c0003t0002 others(5): Show a0001c0002t0002 a0001c0002t0008 a0002c0003t0002 a0002c0004t0002 a0002c0004t0008 a0005c0013t0002 a0007c0020t0002 a0012c0016t0002	a0001c0002t0002g0001 a0001c0002t0002g0023 a0001c0002t0002g0050 others(26): Show a0001c0002t0002g0001 a0001c0002t0002g0023 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0055 a0001c0002t0002g0061 a0001c0002t0002g0087 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0169 a0001c0002t0002g0174 a0001c0002t0008g0057 a0001c0002t0008g0091 a0001c0002t0008g0104 a0001c0002t0008g0139 a0001c0002t0008g0160 a0002c0003t0002g0018 a0002c0003t0002g0026 a0002c0003t0002g0032 a0002c0003t0002g0042 a0002c0003t0002g0049 a0002c0003t0002g0103 a0002c0003t0002g0175 a0002c0004t0002g0033 a0002c0004t0008g0038 a0005c0013t0002g0046 a0005c0013t0002g0171 a0007c0020t0002g0045 a0012c0016t0002g0054	29	182	0.1593	14	c.86 others(25): Show c.8638_*8639insACACACACACACAC	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding		3445		chr6	TogoVar
COL1A2_chr7_94389895_94436227	94393484	A A	ACACACAC others(7): Show ACACACACGCACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01255.hp2 HG01358.hp2 others(11): Show HG00140.hp2 HG01255.hp2 HG01358.hp2 HG01928.hp2 HG01975.hp2 HG02300.hp1 HG03239.hp1 HG04204.hp1 NA18612.hp2 NA18974.hp2 NA18987.hp2 NA19011.hp2 NA19087.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0014 a0001c0001t0001g0117 a0001c0001t0001g0118 others(8): Show a0001c0001t0001g0014 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0003g0047 a0001c0002t0001g0128 a0001c0003t0001g0013 a0001c0005t0001g0007 a0001c0005t0001g0010 a0001c0005t0001g0045 a0001c0005t0001g0107 a0001c0005t0001g0119	14	438	0.0320	14	c.-15 others(25): Show c.-1548_-1547insCACACACGCACACG	COL1A2	ENSG00000164692.19	transcript	ENST00000297268.11	protein_coding		1410		chr7	TogoVar
COL20A1_chr20_63288186_63339806	63294458	C C	CCTCCTTG others(7): Show CCTCCTTGTAGCCCA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0005 a0015c0022t0005	a0015c0022t0005g0183 a0015c0022t0005g0183	1	290	0.0035	14	c.-10 others(29): Show c.-10-636_-10-623dupCTTGTAGCCCACTC	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL21A1_chr6_56051590_56252580	56053862	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	264	0.0038	14	c.37 others(25): Show c.3794_*3795insACACACACACACAC	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding		2727		chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098001	A A	ATATAAAT others(7): Show ATATAAATATATATG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0087 a0001c0001t0014g0087	1	264	0.0038	14	c.181 others(33): Show c.1812+3470_1812+3471insCATATATATTTATA	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098574	T T	TATAAATA others(7): Show TATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01074.hp2 HG01106.hp1 others(17): Show HG00733.hp2 HG01074.hp2 HG01106.hp1 HG01255.hp2 HG01261.hp1 HG01515.hp1 HG01517.hp1 HG02132.hp1 HG02523.hp1 HG03195.hp2 HG03490.hp2 HG03492.hp1 HG03704.hp2 HG03834.hp2 NA18945.hp1 NA18971.hp1 NA18979.hp1 NA18989.hp2 NA18995.hp2 NA19004.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0019 a0009c0018 a0001c0001 a0001c0019 a0009c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 a0001c0019t0001 a0009c0018t0001	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0142 others(17): Show a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0159 a0001c0001t0001g0194 a0001c0001t0001g0216 a0001c0001t0001g0240 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0003g0038 a0001c0001t0003g0043 a0001c0001t0003g0047 a0001c0001t0003g0062 a0001c0001t0003g0093 a0001c0001t0006g0015 a0001c0001t0016g0144 a0001c0001t0016g0237 a0001c0019t0001g0136 a0009c0018t0001g0234	20	264	0.0758	14	c.181 others(33): Show c.1812+2897_1812+2898insTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098630	T T	TATAAATA others(7): Show TATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0061 a0001c0001t0008g0061	1	264	0.0038	14	c.181 others(33): Show c.1812+2841_1812+2842insTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56129675	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG01884.hp2 others(5): Show HG00544.hp2 HG00597.hp1 HG01884.hp2 HG02258.hp1 HG03098.hp1 NA18522.hp2 NA18747.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009	a0001c0001t0003g0064 a0001c0001t0005g0155 a0001c0001t0005g0171 others(5): Show a0001c0001t0003g0064 a0001c0001t0005g0155 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0008g0058 a0001c0001t0008g0059 a0001c0001t0008g0061 a0001c0001t0009g0039	8	264	0.0303	14	c.154 others(33): Show c.1543-3540_1543-3527dupACACACACACACAC	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	12/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56129699	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp2 HG01169.hp2 others(1): Show HG00741.hp1 HG01167.hp2 HG01169.hp2 HG02886.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0008 a0008c0027 a0001c0001 a0001c0008 a0008c0027	a0001c0001t0003 a0001c0008t0002 a0001c0008t0004 others(1): Show a0001c0001t0003 a0001c0008t0002 a0001c0008t0004 a0008c0027t0002	a0001c0001t0003g0085 a0001c0008t0002g0261 a0001c0008t0004g0077 others(1): Show a0001c0001t0003g0085 a0001c0008t0002g0261 a0001c0008t0004g0077 a0008c0027t0002g0262	4	264	0.0152	14	c.154 others(33): Show c.1543-3551_1543-3550insTCACACACACACAC	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	12/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56130165	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01169.hp2 HG00597.hp1 HG01169.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0027 a0001c0001 a0008c0027	a0001c0001t0005 a0008c0027t0002 a0001c0001t0005 a0008c0027t0002	a0001c0001t0005g0171 a0008c0027t0002g0262 a0001c0001t0005g0171 a0008c0027t0002g0262	2	264	0.0076	14	c.154 others(33): Show c.1543-4030_1543-4017dupTATATATATATATA	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	12/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56148338	C C	CAGAGAGA others(7): Show CAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02451.hp1 HG02895.hp1 others(14): Show HG01257.hp1 HG02451.hp1 HG02895.hp1 HG02897.hp1 HG03017.hp2 HG03041.hp2 HG03239.hp2 HG03491.hp2 HG03834.hp2 HG04228.hp1 NA18943.hp1 NA18968.hp1 NA18975.hp1 NA19003.hp2 NA19063.hp1 NA19066.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0003c0007t0001	a0001c0001t0001g0112 a0001c0001t0001g0147 a0001c0001t0001g0177 others(14): Show a0001c0001t0001g0112 a0001c0001t0001g0147 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0003g0076 a0001c0001t0004g0073 a0001c0001t0004g0084 a0001c0001t0005g0178 a0001c0001t0005g0226 a0001c0001t0005g0258 a0001c0001t0009g0031 a0001c0001t0009g0033 a0001c0001t0009g0034 a0003c0007t0001g0170	17	264	0.0644	14	c.143 others(33): Show c.1435-6369_1435-6356dupCTCTCTCTCTCTCT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	10/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56150565	C C	CACACACA others(7): Show CACACACACACACAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0080 a0001c0002t0003g0080	1	264	0.0038	14	c.143 others(33): Show c.1434+6321_1434+6322insTTGTGTGTGTGTGT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	10/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56206697	A A	AATAAATA others(7): Show AATAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0044 a0003c0003t0003g0044	1	264	0.0038	14	c.-38 others(33): Show c.-38-24042_-38-24041insATATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	1/29			chr6	TogoVar
COL22A1_chr8_138583235_138919041	138658866	A A	ATCTTCTC others(7): Show ATCTTCTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01433.hp1 HG01884.hp1 others(27): Show HG00639.hp1 HG01433.hp1 HG01884.hp1 HG01891.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02738.hp2 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA19043.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0008 a0009 a0010 a0012	a0001c0001 a0001c0002 a0001c0006 others(20): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0010 a0001c0012 a0001c0014 a0001c0015 a0001c0017 a0001c0057 a0002c0003 a0002c0004 a0002c0005 a0002c0009 a0002c0011 a0002c0025 a0002c0029 a0003c0033 a0004c0019 a0008c0036 a0009c0039 a0010c0042 a0012c0047	a0001c0001t0002 a0001c0002t0001 a0001c0002t0005 others(25): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0005 a0001c0006t0001 a0001c0008t0002 a0001c0010t0001 a0001c0012t0005 a0001c0014t0011 a0001c0015t0001 a0001c0015t0002 a0001c0017t0005 a0001c0017t0007 a0001c0057t0009 a0002c0003t0001 a0002c0003t0003 a0002c0004t0002 a0002c0005t0001 a0002c0005t0003 a0002c0009t0001 a0002c0011t0012 a0002c0025t0004 a0002c0029t0002 a0003c0033t0002 a0004c0019t0001 a0008c0036t0002 a0009c0039t0001 a0010c0042t0013 a0012c0047t0001	a0001c0001t0002g0017 a0001c0002t0001g0100 a0001c0002t0005g0151 others(27): Show a0001c0001t0002g0017 a0001c0002t0001g0100 a0001c0002t0005g0151 a0001c0006t0001g0113 a0001c0008t0002g0133 a0001c0010t0001g0025 a0001c0010t0001g0027 a0001c0012t0005g0143 a0001c0014t0011g0091 a0001c0015t0001g0077 a0001c0015t0002g0120 a0001c0017t0005g0149 a0001c0017t0007g0147 a0001c0057t0009g0048 a0002c0003t0001g0112 a0002c0003t0003g0001 a0002c0004t0002g0088 a0002c0005t0001g0074 a0002c0005t0003g0005 a0002c0009t0001g0072 a0002c0009t0001g0119 a0002c0011t0012g0139 a0002c0025t0004g0103 a0002c0029t0002g0057 a0003c0033t0002g0015 a0004c0019t0001g0130 a0008c0036t0002g0085 a0009c0039t0001g0134 a0010c0042t0013g0140 a0012c0047t0001g0098	30	158	0.1899	14	c.328 others(33): Show c.3285+1556_3285+1569dupGAGAAGAGAGAAGA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	44/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138663012	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02572.hp2 HG02615.hp1 others(2): Show HG00735.hp1 HG02572.hp2 HG02615.hp1 NA18944.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0016 a0001c0053 a0002c0004 others(1): Show a0001c0016 a0001c0053 a0002c0004 a0002c0007	a0001c0016t0001 a0001c0053t0001 a0002c0004t0004 others(1): Show a0001c0016t0001 a0001c0053t0001 a0002c0004t0004 a0002c0007t0001	a0001c0016t0001g0063 a0001c0016t0001g0097 a0001c0053t0001g0118 others(2): Show a0001c0016t0001g0063 a0001c0016t0001g0097 a0001c0053t0001g0118 a0002c0004t0004g0094 a0002c0007t0001g0081	5	158	0.0317	14	c.318 others(31): Show c.3186+692_3186+693insTGTGTGTGTGTGTG	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	42/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138710606	T T	TATATATA others(7): Show TATATATATATATAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01884.hp2 HG02451.hp1 others(1): Show HG00741.hp1 HG01884.hp2 HG02451.hp1 HG02451.hp2	a0002 a0004 a0002 a0004	a0002c0022 a0002c0052 a0004c0040 a0002c0022 a0002c0052 a0004c0040	a0002c0022t0001 a0002c0022t0002 a0002c0052t0002 others(1): Show a0002c0022t0001 a0002c0022t0002 a0002c0052t0002 a0004c0040t0004	a0002c0022t0001g0040 a0002c0022t0002g0028 a0002c0052t0002g0058 others(1): Show a0002c0022t0001g0040 a0002c0022t0002g0028 a0002c0052t0002g0058 a0004c0040t0004g0035	4	158	0.0253	14	c.251 others(33): Show c.2517+5075_2517+5076insCTATATATATATAT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	30/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138726498	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01099.hp2 HG01261.hp1 others(8): Show HG01070.hp2 HG01099.hp2 HG01261.hp1 HG02145.hp2 HG02280.hp2 HG02615.hp1 HG03098.hp1 HG03710.hp1 NA19011.hp2 NA19043.hp1 NA19240.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0013 a0016	a0001c0001 a0001c0002 a0001c0008 others(6): Show a0001c0001 a0001c0002 a0001c0008 a0001c0015 a0002c0004 a0002c0005 a0004c0032 a0013c0043 a0016c0030	a0001c0001t0001 a0001c0001t0003 a0001c0002t0007 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0007 a0001c0008t0002 a0001c0015t0001 a0002c0004t0004 a0002c0005t0002 a0002c0005t0009 a0004c0032t0001 a0013c0043t0001 a0016c0030t0004	a0001c0001t0001g0121 a0001c0001t0003g0004 a0001c0002t0007g0156 others(8): Show a0001c0001t0001g0121 a0001c0001t0003g0004 a0001c0002t0007g0156 a0001c0008t0002g0026 a0001c0015t0001g0077 a0002c0004t0004g0094 a0002c0005t0002g0047 a0002c0005t0009g0135 a0004c0032t0001g0115 a0013c0043t0001g0056 a0016c0030t0004g0021	11	158	0.0696	14	c.214 others(33): Show c.2140-1072_2140-1059dupTTTTTTTTTTTTTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	23/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138795528	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG00642.hp2 others(29): Show HG00597.hp2 HG00639.hp1 HG00642.hp2 HG01070.hp1 HG01099.hp1 HG01943.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02717.hp2 HG02735.hp1 HG02896.hp2 HG02922.hp1 HG03195.hp2 HG03453.hp2 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0013 a0014 a0015	a0001c0001 a0001c0002 a0001c0008 others(21): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0001c0012 a0001c0016 a0001c0017 a0001c0018 a0001c0027 a0001c0045 a0001c0054 a0002c0003 a0002c0004 a0002c0005 a0002c0023 a0002c0059 a0002c0060 a0003c0033 a0004c0041 a0005c0061 a0006c0037 a0013c0043 a0014c0049 a0015c0055	a0001c0001t0001 a0001c0002t0001 a0001c0008t0002 others(24): Show a0001c0001t0001 a0001c0002t0001 a0001c0008t0002 a0001c0010t0001 a0001c0012t0010 a0001c0016t0001 a0001c0017t0005 a0001c0018t0004 a0001c0027t0001 a0001c0027t0002 a0001c0045t0001 a0001c0054t0002 a0002c0003t0001 a0002c0003t0003 a0002c0004t0001 a0002c0005t0001 a0002c0005t0003 a0002c0023t0001 a0002c0059t0001 a0002c0060t0004 a0003c0033t0002 a0004c0041t0002 a0005c0061t0001 a0006c0037t0008 a0013c0043t0001 a0014c0049t0006 a0015c0055t0005	a0001c0001t0001g0083 a0001c0002t0001g0016 a0001c0002t0001g0046 others(29): Show a0001c0001t0001g0083 a0001c0002t0001g0016 a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0108 a0001c0008t0002g0026 a0001c0010t0001g0025 a0001c0010t0001g0027 a0001c0012t0010g0012 a0001c0016t0001g0097 a0001c0017t0005g0149 a0001c0017t0005g0152 a0001c0018t0004g0086 a0001c0027t0001g0024 a0001c0027t0002g0022 a0001c0045t0001g0066 a0001c0054t0002g0090 a0002c0003t0001g0076 a0002c0003t0003g0001 a0002c0004t0001g0127 a0002c0005t0001g0074 a0002c0005t0003g0005 a0002c0023t0001g0117 a0002c0059t0001g0051 a0002c0060t0004g0106 a0003c0033t0002g0015 a0004c0041t0002g0042 a0005c0061t0001g0105 a0006c0037t0008g0067 a0013c0043t0001g0056 a0014c0049t0006g0078 a0015c0055t0005g0148	32	158	0.2025	14	c.159 others(33): Show c.1596+1277_1596+1290dupGTGTGTGTGTGTGT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	12/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138805808	A A	ATGTGTGA others(7): Show ATGTGTGATGGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG00642.hp2 others(65): Show HG00597.hp2 HG00639.hp1 HG00642.hp2 HG01070.hp1 HG01099.hp1 HG01106.hp2 HG01261.hp1 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG02145.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011 a0013 a0014 a0015	a0001c0001 a0001c0002 a0001c0006 others(35): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0010 a0001c0012 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0024 a0001c0026 a0001c0028 a0001c0044 a0001c0045 a0001c0056 a0001c0057 a0002c0003 a0002c0004 a0002c0005 a0002c0009 a0002c0011 a0002c0022 a0002c0023 a0002c0059 a0002c0060 a0003c0020 a0003c0031 a0003c0033 a0004c0019 a0004c0041 a0005c0061 a0006c0037 a0011c0058 a0013c0043 a0014c0049 a0015c0055	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(49): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0001c0010t0001 a0001c0010t0007 a0001c0012t0005 a0001c0012t0010 a0001c0014t0011 a0001c0015t0002 a0001c0016t0001 a0001c0017t0005 a0001c0018t0004 a0001c0024t0016 a0001c0026t0001 a0001c0028t0001 a0001c0044t0002 a0001c0045t0001 a0001c0056t0004 a0001c0057t0009 a0002c0003t0001 a0002c0003t0003 a0002c0004t0001 a0002c0004t0002 a0002c0004t0004 a0002c0004t0008 a0002c0005t0001 a0002c0005t0002 a0002c0005t0003 a0002c0005t0009 a0002c0009t0002 a0002c0011t0012 a0002c0022t0002 a0002c0023t0001 a0002c0059t0001 a0002c0060t0004 a0003c0020t0007 a0003c0031t0004 a0003c0033t0002 a0004c0019t0001 a0004c0041t0002 a0005c0061t0001 a0006c0037t0008 a0011c0058t0002 a0013c0043t0001 a0014c0049t0006 a0015c0055t0005	a0001c0001t0001g0083 a0001c0001t0001g0116 a0001c0002t0001g0046 others(65): Show a0001c0001t0001g0083 a0001c0001t0001g0116 a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0108 a0001c0002t0002g0029 a0001c0002t0002g0043 a0001c0002t0005g0151 a0001c0002t0007g0156 a0001c0006t0001g0054 a0001c0006t0001g0062 a0001c0006t0001g0113 a0001c0006t0002g0064 a0001c0008t0001g0041 a0001c0008t0002g0026 a0001c0008t0002g0096 a0001c0008t0002g0133 a0001c0010t0001g0025 a0001c0010t0001g0027 a0001c0010t0001g0128 a0001c0010t0007g0155 a0001c0012t0005g0143 a0001c0012t0010g0012 a0001c0014t0011g0091 a0001c0015t0002g0120 a0001c0016t0001g0097 a0001c0016t0001g0132 a0001c0017t0005g0149 a0001c0017t0005g0152 a0001c0018t0004g0086 a0001c0024t0016g0158 a0001c0026t0001g0061 a0001c0028t0001g0034 a0001c0044t0002g0065 a0001c0045t0001g0066 a0001c0056t0004g0039 a0001c0057t0009g0048 a0002c0003t0001g0020 a0002c0003t0001g0076 a0002c0003t0001g0084 a0002c0003t0001g0112 a0002c0003t0003g0001 a0002c0004t0001g0127 a0002c0004t0002g0088 a0002c0004t0004g0094 a0002c0004t0008g0023 a0002c0005t0001g0074 a0002c0005t0002g0092 a0002c0005t0003g0005 a0002c0005t0009g0135 a0002c0009t0002g0089 a0002c0011t0012g0139 a0002c0022t0002g0028 a0002c0023t0001g0036 a0002c0023t0001g0117 a0002c0059t0001g0051 a0002c0060t0004g0106 a0003c0020t0007g0150 a0003c0031t0004g0031 a0003c0033t0002g0015 a0004c0019t0001g0130 a0004c0041t0002g0042 a0005c0061t0001g0105 a0006c0037t0008g0067 a0011c0058t0002g0095 a0013c0043t0001g0056 a0014c0049t0006g0078 a0015c0055t0005g0148	68	158	0.4304	14	c.149 others(33): Show c.1494+1946_1494+1959dupCACACCATCACACA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	10/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138809528	C C	CTTTTTCT others(7): Show CTTTTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02723.hp2 NA19043.hp2 HG02622.hp2 HG02723.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0026 a0002c0009 a0002c0025 a0001c0026 a0002c0009 a0002c0025	a0001c0026t0001 a0002c0009t0001 a0002c0025t0004 a0001c0026t0001 a0002c0009t0001 a0002c0025t0004	a0001c0026t0001g0061 a0002c0009t0001g0104 a0002c0025t0004g0103 a0001c0026t0001g0061 a0002c0009t0001g0104 a0002c0025t0004g0103	3	158	0.0190	14	c.145 others(33): Show c.1450-1717_1450-1716insAAAAAAAAGAAAAA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	9/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138902739	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp1 HG02572.hp2 HG02717.hp1	a0001 a0001	a0001c0008 a0001c0016 a0001c0008 a0001c0016	a0001c0008t0002 a0001c0016t0001 a0001c0008t0002 a0001c0016t0001	a0001c0008t0002g0096 a0001c0016t0001g0097 a0001c0008t0002g0096 a0001c0016t0001g0097	2	158	0.0127	14	c.-73 others(33): Show c.-73+10866_-73+10879dupGTGTGTGTGTGTGT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	1/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178232828	T T	TCGCCCCG others(7): Show TCGCCCCGCAGGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02615.hp2 HG02055.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0010 a0002c0003t0005 a0002c0002t0010 a0002c0003t0005	a0002c0002t0010g0228 a0002c0003t0005g0092 a0002c0002t0010g0228 a0002c0003t0005g0092	2	236	0.0085	14	c.58 others(25): Show c.5869_*5870insGGGCCTGCGGGGCG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding		4789		chr5	TogoVar
COL23A1_chr5_178232618_178595393	178249716	A A	ACACACAC others(7): Show ACACACACACACTCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02970.hp2 HG03139.hp1 others(1): Show HG02055.hp2 HG02970.hp2 HG03139.hp1 HG03225.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0005 a0002c0003 a0003c0005	a0002c0003t0003 a0002c0003t0005 a0003c0005t0005 a0002c0003t0003 a0002c0003t0005 a0003c0005t0005	a0002c0003t0003g0157 a0002c0003t0003g0158 a0002c0003t0005g0092 others(1): Show a0002c0003t0003g0157 a0002c0003t0003g0158 a0002c0003t0005g0092 a0003c0005t0005g0208	4	236	0.0170	14	c.105 others(31): Show c.1059+344_1059+345insAGAGTGTGTGTGTG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	18/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178249716	A A	ACACACAC others(7): Show ACACACACTCTCTCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02896.hp2 HG02451.hp2 HG02896.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0006 a0002c0003 a0004c0006	a0002c0003t0001 a0004c0006t0003 a0002c0003t0001 a0004c0006t0003	a0002c0003t0001g0129 a0004c0006t0003g0062 a0002c0003t0001g0129 a0004c0006t0003g0062	2	236	0.0085	14	c.105 others(31): Show c.1059+344_1059+345insAGAGAGAGTGTGTG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	18/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178249716	A A	ACACTCAC others(7): Show ACACTCACTCTCTCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG04184.hp2 NA18999.hp2 others(1): Show HG03225.hp2 HG04184.hp2 NA18999.hp2 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0004 a0001c0004t0002 a0002c0003t0001 a0001c0001t0004 a0001c0004t0002 a0002c0003t0001	a0001c0001t0004g0164 a0001c0001t0004g0197 a0001c0004t0002g0120 others(1): Show a0001c0001t0004g0164 a0001c0001t0004g0197 a0001c0004t0002g0120 a0002c0003t0001g0134	4	236	0.0170	14	c.105 others(31): Show c.1059+344_1059+345insAGAGAGAGTGAGTG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	18/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178249716	A A	ACTCACTC others(7): Show ACTCACTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0188 a0001c0001t0004g0188	1	236	0.0042	14	c.105 others(31): Show c.1059+344_1059+345insAGAGAGAGAGTGAG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	18/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178249716	A A	ACTCTCTC others(7): Show ACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0203 a0001c0001t0004g0203	1	236	0.0042	14	c.105 others(31): Show c.1059+331_1059+344dupAGAGAGAGAGAGAG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	18/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178301959	C C	CCTCTGTG others(7): Show CCTCTGTGTGTGCCG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00558.hp1 others(8): Show HG00408.hp2 HG00423.hp2 HG00558.hp1 HG01168.hp2 HG01517.hp1 HG02896.hp2 NA18612.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA19000.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0006c0018	a0001c0001t0004 a0001c0004t0005 a0002c0003t0001 others(4): Show a0001c0001t0004 a0001c0004t0005 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0006c0018t0003	a0001c0001t0004g0029 a0001c0001t0004g0081 a0001c0004t0005g0059 others(8): Show a0001c0001t0004g0029 a0001c0001t0004g0081 a0001c0004t0005g0059 a0001c0004t0005g0060 a0002c0003t0001g0129 a0002c0003t0002g0209 a0002c0003t0003g0195 a0002c0003t0004g0192 a0002c0003t0004g0205 a0002c0003t0004g0221 a0006c0018t0003g0018	11	236	0.0466	14	c.406 others(31): Show c.406+4915_406+4916insCGGCACACACAGAG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	3/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178358248	G G	GTATGTGT others(7): Show GTATGTGTATGTATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03139.hp1 HG02896.hp2 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0003 a0002c0003t0001 a0002c0003t0003	a0002c0003t0001g0129 a0002c0003t0003g0157 a0002c0003t0001g0129 a0002c0003t0003g0157	2	236	0.0085	14	c.362 others(33): Show c.362-51330_362-51329insTATACATACACATA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178358248	G G	GTGTGTGT others(7): Show GTGTGTGTATGTATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01167.hp2 HG01243.hp2 others(12): Show HG00738.hp1 HG01167.hp2 HG01243.hp2 HG01361.hp1 HG02451.hp1 HG02486.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG03209.hp2 HG03669.hp1 HG03669.hp2 HG04184.hp2 NA19060.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0001c0004 a0002c0002 others(3): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0004c0006 a0008c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0004t0001 a0001c0004t0004 a0002c0002t0001 a0002c0002t0011 a0002c0003t0001 a0002c0003t0002 a0002c0003t0008 a0004c0006t0003 a0008c0019t0003	a0001c0001t0001g0002 a0001c0001t0003g0027 a0001c0001t0003g0073 others(12): Show a0001c0001t0001g0002 a0001c0001t0003g0027 a0001c0001t0003g0073 a0001c0001t0005g0133 a0001c0004t0001g0007 a0001c0004t0001g0094 a0001c0004t0004g0023 a0002c0002t0001g0191 a0002c0002t0011g0038 a0002c0003t0001g0134 a0002c0003t0001g0152 a0002c0003t0002g0211 a0002c0003t0008g0231 a0004c0006t0003g0143 a0008c0019t0003g0215	15	236	0.0636	14	c.362 others(33): Show c.362-51343_362-51330dupTATACATACACACA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178365136	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA19060.hp2 HG02071.hp2 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0193 a0002c0002t0001g0191 a0001c0001t0004g0193 a0002c0002t0001g0191	2	236	0.0085	14	c.362 others(33): Show c.362-58231_362-58218dupACACACACACACAC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178403108	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0145 a0003c0005t0003g0145	1	236	0.0042	14	c.362 others(33): Show c.362-96203_362-96190dupTTTTTTTTTTTTTT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178498255	T T	TATATATA others(7): Show TATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0008 a0002c0009t0008	a0002c0009t0008g0235 a0002c0009t0008g0235	1	236	0.0042	14	c.361 others(33): Show c.361+62426_361+62427insTTATATATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178517559	T T	TTTTTTTT others(7): Show TTTTTTTTTTTCTTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0091 a0005c0008t0002g0091	1	236	0.0042	14	c.361 others(33): Show c.361+43122_361+43123insCAAGAAAAAAAAAA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178523201	T T	TATATAGA others(7): Show TATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	236	0.0042	14	c.361 others(33): Show c.361+37480_361+37481insCTCTCTCTCTATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178562733	T T	TGGGGGGG others(7): Show TGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	236	0.0042	14	c.295 others(31): Show c.295-1986_295-1985insCCCCCCCCCCCCCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178562736	T T	TGGGGGGG others(7): Show TGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02451.hp2 HG03492.hp1 others(2): Show HG01074.hp2 HG02451.hp2 HG03492.hp1 NA18964.hp2 NA20300.hp2	a0003 a0004 a0003 a0004	a0003c0005 a0003c0007 a0004c0006 a0003c0005 a0003c0007 a0004c0006	a0003c0005t0003 a0003c0007t0001 a0004c0006t0003 others(1): Show a0003c0005t0003 a0003c0007t0001 a0004c0006t0003 a0004c0006t0004	a0003c0005t0003g0217 a0003c0007t0001g0013 a0003c0007t0001g0154 others(2): Show a0003c0005t0003g0217 a0003c0007t0001g0013 a0003c0007t0001g0154 a0004c0006t0003g0062 a0004c0006t0004g0135	5	236	0.0212	14	c.295 others(31): Show c.295-1989_295-1988insCCCCCCCCCCCCCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178572072	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03209.hp1 NA18990.hp2 HG02486.hp1 HG03209.hp1 NA18990.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0009 a0008c0019 a0001c0001 a0002c0009 a0008c0019	a0001c0001t0005 a0002c0009t0008 a0008c0019t0003 a0001c0001t0005 a0002c0009t0008 a0008c0019t0003	a0001c0001t0005g0222 a0002c0009t0008g0235 a0008c0019t0003g0215 a0001c0001t0005g0222 a0002c0009t0008g0235 a0008c0019t0003g0215	3	236	0.0127	14	c.295 others(33): Show c.295-11325_295-11324insTTTTTTTTTTTTTT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL24A1_chr1_85724233_86161772	85813532	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	238	0.0042	14	c.395 others(33): Show c.3951+3242_3951+3255dupAAAAAAAAAAAAAA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	47/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85875716	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0008 a0002c0027t0008	a0002c0027t0008g0064 a0002c0027t0008g0064	1	238	0.0042	14	c.303 others(31): Show c.3031-400_3031-387dupGTGTGTGTGTGTGT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	33/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85885397	A A	ATATATAT others(7): Show ATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0001 a0008c0006t0001	a0008c0006t0001g0059 a0008c0006t0001g0059	1	238	0.0042	14	c.297 others(33): Show c.2976+4162_2976+4163insAAAATATATATATA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	32/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85885397	A A	ATATATAT others(7): Show ATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp2 HG01109.hp1 others(5): Show HG00741.hp1 HG01106.hp2 HG01109.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01981.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0001 a0003c0003t0016 a0001c0001t0002 a0003c0003t0001 a0003c0003t0016	a0001c0001t0002g0155 a0003c0003t0001g0166 a0003c0003t0001g0167 others(5): Show a0001c0001t0002g0155 a0003c0003t0001g0166 a0003c0003t0001g0167 a0003c0003t0001g0220 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0226 a0003c0003t0016g0227	8	238	0.0336	14	c.297 others(33): Show c.2976+4162_2976+4163insAAAAAAAATATATA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	32/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85906264	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01891.hp1 HG02630.hp2 others(4): Show HG01358.hp1 HG01891.hp1 HG02630.hp2 HG02647.hp1 HG02897.hp1 HG03139.hp1 NA20300.hp1	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0018	a0001c0001 a0004c0002 a0006c0061 others(1): Show a0001c0001 a0004c0002 a0006c0061 a0018c0025	a0001c0001t0001 a0004c0002t0007 a0006c0061t0003 others(1): Show a0001c0001t0001 a0004c0002t0007 a0006c0061t0003 a0018c0025t0004	a0001c0001t0001g0119 a0004c0002t0007g0001 a0004c0002t0007g0002 others(4): Show a0001c0001t0001g0119 a0004c0002t0007g0001 a0004c0002t0007g0002 a0004c0002t0007g0004 a0006c0061t0003g0232 a0018c0025t0004g0035 a0018c0025t0004g0234	7	238	0.0294	14	c.277 others(31): Show c.2778+929_2778+930insAAAAAAAAAAAAAA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	28/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85997039	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	238	0.0042	14	c.231 others(33): Show c.2311-9386_2311-9385insCACACACACACACA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	19/59			chr1	TogoVar

Search by Variant

Search

Search Results