Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COA1_chr7_43634257_43734523	43644787	C C	CAGAGAGA others(33): Show CAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	384	0.0026	40	c.264 others(55): Show c.264+463_264+464insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTGTCTCTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43664103	A A	AAGAGAGA others(33): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	384	0.0026	40	c.-38 others(59): Show c.-38-15452_-38-15451insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COBLL1_chr2_164675188_164846823	164773047	G G	GTAAATTG others(33): Show GTAAATTGACTAACTGCAATTGTTACTACCAAGAGGGTTGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp1 HG00735.hp1 others(47): Show HG00639.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01109.hp2 HG01175.hp2 HG01255.hp1 HG01261.hp2 HG01361.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02451.hp1 HG02615.hp2 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp2 HG03927.hp2 HG04184.hp1 HG06807.hp2 NA18522.hp2 NA18955.hp2 NA18966.hp2 NA18995.hp2 NA19030.hp2 NA19043.hp2 NA19088.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0014	a0001c0001 a0001c0002 a0001c0012 others(6): Show a0001c0001 a0001c0002 a0001c0012 a0001c0024 a0001c0033 a0002c0003 a0002c0030 a0004c0032 a0014c0031	a0001c0001t0001 a0001c0001t0027 a0001c0001t0029 others(20): Show a0001c0001t0001 a0001c0001t0027 a0001c0001t0029 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0011 a0001c0002t0055 a0001c0002t0057 a0001c0002t0058 a0001c0002t0060 a0001c0012t0001 a0001c0024t0028 a0001c0033t0008 a0002c0003t0003 a0002c0003t0023 a0002c0003t0024 a0002c0003t0053 a0002c0030t0022 a0004c0032t0001 a0014c0031t0022	a0001c0001t0001g0103 a0001c0001t0027g0188 a0001c0001t0029g0179 others(46): Show a0001c0001t0001g0103 a0001c0001t0027g0188 a0001c0001t0029g0179 a0001c0002t0001g0044 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0002g0165 a0001c0002t0002g0174 a0001c0002t0004g0007 a0001c0002t0004g0008 a0001c0002t0004g0098 a0001c0002t0004g0186 a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0004g0191 a0001c0002t0005g0133 a0001c0002t0005g0134 a0001c0002t0005g0135 a0001c0002t0005g0136 a0001c0002t0008g0175 a0001c0002t0008g0176 a0001c0002t0008g0177 a0001c0002t0011g0187 a0001c0002t0011g0201 a0001c0002t0055g0144 a0001c0002t0057g0183 a0001c0002t0058g0164 a0001c0002t0060g0162 a0001c0012t0001g0014 a0001c0024t0028g0192 a0001c0033t0008g0180 a0002c0003t0003g0073 a0002c0003t0003g0075 a0002c0003t0003g0076 a0002c0003t0003g0077 a0002c0003t0003g0078 a0002c0003t0003g0079 a0002c0003t0003g0096 a0002c0003t0003g0097 a0002c0003t0003g0099 a0002c0003t0003g0100 a0002c0003t0003g0102 a0002c0003t0003g0104 a0002c0003t0023g0001 a0002c0003t0024g0101 a0002c0003t0053g0031 a0002c0030t0022g0172 a0004c0032t0001g0163 a0014c0031t0022g0181	50	212	0.2359	40	c.42- others(57): Show c.42-29212_42-29173dupACAACCCTCTTGGTAGTAACAATTGCAG TTAGTCAATTTA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51098224	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0006 a0001c0015t0006	a0001c0015t0006g0022 a0001c0015t0006g0022	1	230	0.0044	40	c.958 others(59): Show c.958-12921_958-12920insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COG6_chr13_39650662_39757628	39706255	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATACTCCTTTATATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0209 a0001c0001t0005g0209	1	370	0.0027	40	c.128 others(59): Show c.1284+6660_1284+6661insATATACTCCTTTATATATATATATAT ATATATATATATAT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39706255	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATTTAAA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	370	0.0027	40	c.128 others(59): Show c.1284+6660_1284+6661insATATATATATATTTAAATATATATAT ATATATATATATAT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39706255	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATTTAAATATA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	370	0.0027	40	c.128 others(59): Show c.1284+6660_1284+6661insATATATATTTAAATATATATATATAT ATATATATATATAT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL13A1_chr10_69796906_69964144	69810376	G G	GAGAGAGA others(33): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACACAGAGAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	324	0.0031	40	c.294 others(57): Show c.294+7664_294+7665insGAGAGAGAGAGAGAGAGAGAGAGAGACA CAGAGACAGAGA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69810376	G G	GAGAGAGA others(33): Show GAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGACACAGAGAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01168.hp1 HG01069.hp2 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0203 a0001c0001t0001g0204	2	324	0.0062	40	c.294 others(57): Show c.294+7664_294+7665insGAGAGAGAGAGGGAGAGAGAGAGAGACA CAGAGACAGAGA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL14A1_chr8_120120102_120378573	120200046	A A	AAAGCATA others(33): Show AAAGCATATATATATATATATATATATAAGCATATATATGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	218	0.0046	40	c.877 others(55): Show c.877+497_877+498insTATATATATAAGCATATATATGTAAGCATA TATATATATA	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	8/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL16A1_chr1_31647263_31709017	31707338	C C	CCTTTTCT others(33): Show CCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp2 NA19066.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0001 a0001c0001t0002 a0001c0008t0001	a0001c0001t0002g0264 a0001c0008t0001g0200 a0001c0001t0002g0264 a0001c0008t0001g0200	2	342	0.0059	40	c.-35 others(51): Show c.-3537_-3536insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAG	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding		3322		chr1	TogoVar
COL18A1_chr21_45400165_45518720	45437518	A A	ACACACTC others(33): Show ACACACTCAGACACACAGGCACTCTCCTGCACACACACACT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03704.hp1 HG04184.hp1 HG03654.hp1 HG03704.hp1 HG04184.hp1	a0001 a0009 a0025 a0001 a0009 a0025	a0001c0001 a0009c0016 a0025c0050 a0001c0001 a0009c0016 a0025c0050	a0001c0001t0001 a0009c0016t0002 a0025c0050t0002 a0001c0001t0001 a0009c0016t0002 a0025c0050t0002	a0001c0001t0001g0243 a0009c0016t0002g0252 a0025c0050t0002g0108 a0001c0001t0001g0243 a0009c0016t0002g0252 a0025c0050t0002g0108	3	292	0.0103	40	c.107 others(59): Show c.107-30685_107-30684insTCACACTCAGACACACAGGCACTCTC CTGCACACACACAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45437543	C C	CCTGCACA others(33): Show CCTGCACACACACACTCACACTCAGACACACAGGCACTCTG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0004 a0004	a0004c0057 a0004c0057	a0004c0057t0002 a0004c0057t0002	a0004c0057t0002g0035 a0004c0057t0002g0035	1	292	0.0034	40	c.107 others(59): Show c.107-30685_107-30684insTCACACTCAGACACACAGGCACTCTG CTGCACACACACAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69921016	T T	TATATATA others(33): Show TATATATAATATATATTCATATATATATTCATATATATATC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02897.hp2 HG02886.hp1 HG02897.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0013 a0003c0010t0027 a0003c0010t0013 a0003c0010t0027	a0003c0010t0013g0173 a0003c0010t0027g0119 a0003c0010t0013g0173 a0003c0010t0027g0119	2	182	0.0110	40	c.267 others(57): Show c.267-6886_267-6885insATATATATTCATATATATATTCATATAT ATATCATATATA	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL20A1_chr20_63288186_63339806	63304346	C C	CGCAGGTG others(33): Show CGCAGGTGTGGGTTCCTCCCTCCCTTCCTCCCTCCAGGTGT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	290	0.0035	40	c.194 others(55): Show c.194-968_194-929dupCTTCCTCCCTCCAGGTGTGCAGGTGTGGGT TCCTCCCTCC	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	3/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63304386	T T	TGCAGGTG others(33): Show TGCAGGTGTGGGTTCCTCCCTCCTCTTCTCCCTGCAGGTGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0103 a0002c0008t0003g0103	1	290	0.0035	40	c.194 others(57): Show c.194-1009_194-1008insTCTTCTCCCTGCAGGTGCGCAGGTGTGG GTTCCTCCCTCC	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	3/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL21A1_chr6_56051590_56252580	56098608	T T	TATATATA others(33): Show TATATATAAATATATATAAATATATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0097 a0001c0002t0002g0097	1	264	0.0038	40	c.181 others(59): Show c.1812+2824_1812+2863dupTTATATATATTTATATATATATTTAT ATATATTTATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098664	T T	TATAAATA others(33): Show TATAAATATATATATATATATATATATATATAAATATATAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0013 a0001c0001t0006g0013	1	264	0.0038	40	c.181 others(59): Show c.1812+2807_1812+2808insTTATATATTTATATATATATATATAT ATATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL22A1_chr8_138583235_138919041	138636480	A A	AGAAAGGA others(33): Show AGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0081 a0002c0007t0001g0081	1	158	0.0063	40	c.355 others(57): Show c.3555+222_3555+261dupCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTC	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	48/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138636532	A A	AAAGGAAA others(33): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02615.hp2 others(4): Show HG01891.hp1 HG02258.hp1 HG02615.hp2 HG02647.hp1 HG02886.hp1 HG03195.hp1 HG03831.hp2	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0001c0002 a0001c0018 others(4): Show a0001c0001 a0001c0002 a0001c0018 a0001c0028 a0001c0046 a0002c0003 a0015c0039	a0001c0001t0002 a0001c0002t0005 a0001c0018t0001 others(4): Show a0001c0001t0002 a0001c0002t0005 a0001c0018t0001 a0001c0028t0001 a0001c0046t0001 a0002c0003t0001 a0015c0039t0001	a0001c0001t0002g0017 a0001c0002t0005g0151 a0001c0018t0001g0055 others(4): Show a0001c0001t0002g0017 a0001c0002t0005g0151 a0001c0018t0001g0055 a0001c0028t0001g0034 a0001c0046t0001g0087 a0002c0003t0001g0020 a0015c0039t0001g0134	7	158	0.0443	40	c.355 others(57): Show c.3555+209_3555+210insGCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	48/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138636532	A A	AAAGGAAA others(33): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGCAAGGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01081.hp1 HG01255.hp2 others(7): Show HG00741.hp2 HG01081.hp1 HG01255.hp2 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03579.hp1 NA19060.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0016 others(1): Show a0001c0001 a0001c0002 a0001c0016 a0003c0013	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0016t0001 a0003c0013t0001 a0003c0013t0003	a0001c0001t0001g0082 a0001c0001t0001g0116 a0001c0001t0001g0129 others(7): Show a0001c0001t0001g0082 a0001c0001t0001g0116 a0001c0001t0001g0129 a0001c0001t0005g0142 a0001c0002t0001g0045 a0001c0002t0001g0100 a0001c0002t0002g0043 a0001c0016t0001g0063 a0003c0013t0001g0125 a0003c0013t0003g0002	10	158	0.0633	40	c.355 others(57): Show c.3555+209_3555+210insGCCTTGCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	48/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138676454	A A	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01433.hp1 HG02735.hp1 others(6): Show HG00735.hp2 HG01433.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02970.hp1 HG03831.hp2 HG04228.hp1 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0001c0018 a0002c0003 a0002c0005 a0002c0009	a0001c0001t0005 a0001c0002t0005 a0001c0006t0001 others(5): Show a0001c0001t0005 a0001c0002t0005 a0001c0006t0001 a0001c0010t0001 a0001c0018t0001 a0002c0003t0001 a0002c0005t0001 a0002c0009t0001	a0001c0001t0005g0142 a0001c0002t0005g0153 a0001c0006t0001g0113 others(6): Show a0001c0001t0005g0142 a0001c0002t0005g0153 a0001c0006t0001g0113 a0001c0010t0001g0128 a0001c0018t0001g0055 a0002c0003t0001g0076 a0002c0003t0001g0112 a0002c0005t0001g0074 a0002c0009t0001g0119	9	158	0.0570	40	c.315 others(57): Show c.3150+103_3150+104insCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	41/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138676454	A A	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03492.hp1 HG02809.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0001 a0001c0002t0001 a0001c0008t0001	a0001c0002t0001g0108 a0001c0008t0001g0041 a0001c0002t0001g0108 a0001c0008t0001g0041	2	158	0.0127	40	c.315 others(57): Show c.3150+103_3150+104insCCTTCCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	41/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138676454	A A	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0031 a0003c0031	a0003c0031t0004 a0003c0031t0004	a0003c0031t0004g0031 a0003c0031t0004g0031	1	158	0.0063	40	c.315 others(57): Show c.3150+103_3150+104insCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	41/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138806081	T T	TGTGTGTG others(33): Show TGTGTGTGGTGTGTGTGTGGTGTGTGTAATGGTGTGTGATG	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19030.hp2 HG02615.hp1 NA19030.hp2	a0002 a0002	a0002c0004 a0002c0005 a0002c0004 a0002c0005	a0002c0004t0004 a0002c0005t0002 a0002c0004t0004 a0002c0005t0002	a0002c0004t0004g0094 a0002c0005t0002g0092 a0002c0004t0004g0094 a0002c0005t0002g0092	2	158	0.0127	40	c.149 others(59): Show c.1494+1686_1494+1687insCATCACACACCATTACACACACCACA CACACACCACACAC	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	10/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178258262	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19065.hp2 HG02145.hp2 NA19065.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0023 a0002c0002 a0003c0023	a0002c0002t0001 a0003c0023t0010 a0002c0002t0001 a0003c0023t0010	a0002c0002t0001g0047 a0003c0023t0010g0236 a0002c0002t0001g0047 a0003c0023t0010g0236	2	236	0.0085	40	c.730 others(55): Show c.730-696_730-695insGTGTATATATATATATATATATATATATAT ATATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	12/28			chr5	TogoVar
COL24A1_chr1_85724233_86161772	85799211	A A	AAAAAAAA others(33): Show AAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0182 a0005c0004t0002g0182	1	238	0.0042	40	c.395 others(61): Show c.3952-12751_3952-12750insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTTTTT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	47/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85997055	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	238	0.0042	40	c.231 others(59): Show c.2311-9402_2311-9401insTATATATATATATATATATATATACA CACACACACACACA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	19/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85997055	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0002 a0008c0006t0002	a0008c0006t0002g0047 a0008c0006t0002g0047	1	238	0.0042	40	c.231 others(59): Show c.2311-9402_2311-9401insTATATATATATATATATATATACACA CACACACACACACA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	19/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85997055	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0001 a0004c0002t0001	a0004c0002t0001g0151 a0004c0002t0001g0151	1	238	0.0042	40	c.231 others(59): Show c.2311-9402_2311-9401insTATATATATATATATATACACACACA CACACACACACACA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	19/59			chr1	TogoVar
COL25A1_chr4_108803725_109307658	108961568	C C	CCTGTTCT others(33): Show CCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03704.hp1 HG01175.hp1 HG03704.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0029 a0001c0003t0001 a0001c0004t0029	a0001c0003t0001g0107 a0001c0004t0029g0095 a0001c0003t0001g0107 a0001c0004t0029g0095	2	130	0.0154	40	c.492 others(59): Show c.492+12759_492+12798dupAACAGAACAGAACAGAACAGAACAGA ACAGAACAGAACAG	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	8/37			chr4	TogoVar
COL26A1_chr7_101357875_101564024	101494127	C C	CGTTTTGT others(33): Show CGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0022 a0003c0010t0022	a0003c0010t0022g0166 a0003c0010t0022g0166	1	174	0.0058	40	c.386 others(59): Show c.386-38931_386-38930insTGTTTTGTTTTGTTTTGTTTTGTTTT GTTTTGTTTTGTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL27A1_chr9_114150537_114317511	114253295	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0041 a0041	a0041c0170 a0041c0170	a0041c0170t0032 a0041c0170t0032	a0041c0170t0032g0147 a0041c0170t0032g0147	1	308	0.0033	40	c.314 others(57): Show c.3141+388_3141+389insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGA	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	27/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL4A1_chr13_110143963_110312157	110255579	A A	AGGCAGGC others(33): Show AGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02155.hp1 HG02523.hp1 others(2): Show HG02129.hp2 HG02155.hp1 HG02523.hp1 NA18960.hp2 NA18972.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0002 a0002c0040 others(2): Show a0001c0003 a0002c0002 a0002c0040 a0002c0112 a0003c0084	a0001c0003t0001 a0002c0002t0002 a0002c0040t0002 others(2): Show a0001c0003t0001 a0002c0002t0002 a0002c0040t0002 a0002c0112t0002 a0003c0084t0002	a0001c0003t0001g0120 a0002c0002t0002g0272 a0002c0040t0002g0274 others(2): Show a0001c0003t0001g0120 a0002c0002t0002g0272 a0002c0040t0002g0274 a0002c0112t0002g0273 a0003c0084t0002g0328	5	344	0.0145	40	c.85- others(57): Show c.85-12846_85-12845insCCCTTCCCTTCCTGCCTGCCCCCTTCCC TTCCTGCCTGCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255842	A A	AAGGAAGG others(33): Show AAGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	344	0.0029	40	c.85- others(57): Show c.85-13109_85-13108insCTTCCTGCCTTCCCCCTCCCTTCCTGCC TTCCCCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255884	A A	AAGGGGGA others(33): Show AAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01928.hp1 HG02056.hp2 others(28): Show HG00438.hp1 HG01928.hp1 HG02056.hp2 HG02155.hp1 HG02523.hp1 HG02809.hp1 HG03139.hp2 HG03491.hp2 HG03492.hp2 HG04204.hp1 NA18747.hp2 NA18943.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18969.hp1 NA18972.hp1 NA18978.hp1 NA18981.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19074.hp1 NA19079.hp2 NA19081.hp1 NA19087.hp2 NA20300.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0011	a0001c0001 a0001c0003 a0001c0019 others(17): Show a0001c0001 a0001c0003 a0001c0019 a0001c0033 a0001c0058 a0001c0065 a0002c0002 a0002c0004 a0002c0018 a0002c0024 a0002c0040 a0002c0082 a0002c0112 a0003c0012 a0003c0014 a0003c0084 a0004c0005 a0004c0021 a0006c0042 a0011c0087	a0001c0001t0001 a0001c0003t0001 a0001c0019t0001 others(20): Show a0001c0001t0001 a0001c0003t0001 a0001c0019t0001 a0001c0033t0001 a0001c0058t0001 a0001c0065t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0012 a0002c0004t0002 a0002c0018t0001 a0002c0024t0002 a0002c0040t0002 a0002c0082t0002 a0002c0112t0002 a0003c0012t0002 a0003c0014t0001 a0003c0014t0002 a0003c0084t0002 a0004c0005t0001 a0004c0021t0001 a0006c0042t0002 a0011c0087t0011	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0044 others(27): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0001g0116 a0001c0003t0001g0088 a0001c0019t0001g0027 a0001c0033t0001g0098 a0001c0033t0001g0099 a0001c0058t0001g0102 a0001c0065t0001g0023 a0002c0002t0001g0248 a0002c0002t0002g0272 a0002c0002t0002g0288 a0002c0002t0012g0293 a0002c0004t0002g0287 a0002c0018t0001g0171 a0002c0024t0002g0276 a0002c0040t0002g0274 a0002c0040t0002g0339 a0002c0082t0002g0296 a0002c0112t0002g0273 a0003c0012t0002g0279 a0003c0014t0001g0249 a0003c0014t0002g0284 a0003c0084t0002g0328 a0004c0005t0001g0075 a0004c0021t0001g0028 a0006c0042t0002g0278 a0011c0087t0011g0289	31	344	0.0901	40	c.85- others(57): Show c.85-13151_85-13150insCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227249212	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	344	0.0029	40	c.546 others(55): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0018 a0006c0016t0018	a0006c0016t0018g0036 a0006c0016t0018g0036	1	344	0.0029	40	c.546 others(55): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	344	0.0029	40	c.546 others(55): Show c.546+711_546+712insATATATATATATATATATATATATATATAT TTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	344	0.0029	40	c.546 others(55): Show c.546+711_546+712insATATATATATATATATATATATATATTTTT TTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227045808	A A	ATACACAT others(33): Show ATACACATATATATGTATATATATTTAGATAGTATATATAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01123.hp2 HG01169.hp2 others(9): Show HG00544.hp1 HG01123.hp2 HG01169.hp2 HG01192.hp2 HG01261.hp2 HG01515.hp1 HG02004.hp1 HG02258.hp2 HG03486.hp1 HG03516.hp2 NA18946.hp1 NA19083.hp1	a0002 a0004 a0006 others(1): Show a0002 a0004 a0006 a0031	a0002c0002 a0004c0004 a0006c0005 others(1): Show a0002c0002 a0004c0004 a0006c0005 a0031c0061	a0002c0002t0002 a0002c0002t0026 a0004c0004t0002 others(2): Show a0002c0002t0002 a0002c0002t0026 a0004c0004t0002 a0006c0005t0004 a0031c0061t0002	a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0086 others(9): Show a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0086 a0002c0002t0002g0113 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0026g0232 a0004c0004t0002g0042 a0004c0004t0002g0075 a0006c0005t0004g0156 a0006c0005t0004g0158 a0031c0061t0002g0021	12	284	0.0423	40	c.328 others(59): Show c.3289+1666_3289+1667insCTATATATACTATCTAAATATATATA CATATATATGTGTA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	35/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227045967	T T	TTATATAT others(33): Show TTATATATATGTATATATGTATATATATGTATATATATGTA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03017.hp2 HG06807.hp2 HG00323.hp2 HG03017.hp2 HG06807.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0026 a0002c0002 a0003c0026	a0002c0002t0002 a0003c0026t0001 a0002c0002t0002 a0003c0026t0001	a0002c0002t0002g0267 a0002c0002t0002g0268 a0003c0026t0001g0230 a0002c0002t0002g0267 a0002c0002t0002g0268 a0003c0026t0001g0230	3	284	0.0106	40	c.328 others(59): Show c.3289+1507_3289+1508insTACATATATATACATATATATACATA TATACATATATATA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	35/47			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134691492	T T	TTAAGAGA others(33): Show TTAAGAGACGATGAATCAAACGTCGTGACTCCTAGCAAGAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0243	1	272	0.0037	40	c.277 others(55): Show c.277+414_277+453dupTAAGAGACGATGAATCAAACGTCGTGACTC CTAGCAAGAG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	2/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A2_chr2_189026898_189184761	189094588	G G	GACACACA others(33): Show GACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01258.hp1 HG01516.hp2 others(6): Show HG00423.hp1 HG01258.hp1 HG01516.hp2 HG01884.hp1 HG02735.hp2 HG03490.hp2 HG04199.hp2 HG04204.hp2 NA19010.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0015 a0001c0001 a0007c0015	a0001c0001t0001 a0007c0015t0001 a0001c0001t0001 a0007c0015t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0032 others(6): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0049 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0112 a0001c0001t0001g0157 a0007c0015t0001g0108	9	248	0.0363	40	c.457 others(57): Show c.457-2208_457-2169dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	6/53			chr2	TogoVar
COL6A1_chr21_45976770_46010048	46002718	T T	TGGGGCCG others(33): Show TGGGGCCGCCCGAGCAGTCCCAGATCTGCGTAGGTGCGCGC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	128	0.0078	40	c.243 others(55): Show c.2434+14_2434+15insGCCCGAGCAGTCCCAGATCTGCGTAGGTGC GCGCGGGGCC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	33/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135810	C C	CCCCAGCG others(33): Show CCCCAGCGTTCCCTCCCAGCCTCCCCTCCCCAGCGTTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0314 a0001c0002t0013g0314	1	364	0.0028	40	c.32 others(51): Show c.3258_*3259insCCCAGCGTTCCCTCCCAGCCTCCCCTCCCCAGCG TTCCCT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2963		chr21	TogoVar
COL6A6_chr3_130512177_130682042	130636912	T T	TCCCCTCC others(33): Show TCCCCTCCCCCTCCCCTCCCCTTCCCCCTCCCCTCCCCTTC	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0004 a0004	a0004c0022 a0004c0022	a0004c0022t0010 a0004c0022t0010	a0004c0022t0010g0249 a0004c0022t0010g0249	1	264	0.0038	40	c.509 others(59): Show c.5091+1183_5091+1184insTCCCCTTCCCCCTCCCCCTCCCCTCC CCTTCCCCCTCCCC	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A2_chr1_40295489_40322286	40318295	C C	CATACATA others(33): Show CATACATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0028 a0007c0009t0001g0028	1	438	0.0023	40	c.-10 others(51): Show c.-1099_-1098insATATATATATATATATATATATATATATATATAT ATGTAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1010		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0050	1	438	0.0023	40	c.-11 others(51): Show c.-1118_-1117insAAAATATATATATATATATATATATATATATATA TATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0025 a0002c0002t0001g0025	1	438	0.0023	40	c.-11 others(51): Show c.-1118_-1117insAAAAAAAAAATATATATATATATATATATATATA TATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar

Search by Variant

Search

Search Results (Total: 6641 hits)