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 (≤).

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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
CLNK_chr4_10481395_10689768	10616790	G G	GTATATAT others(32): Show GTATATATATATAATATATATATATATATATATATATACA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0017 a0003c0003t0017	a0003c0003t0017g0114 a0003c0003t0017g0114	1	320	0.0031	39	c.12- others(56): Show c.12-18742_12-18741insTGTATATATATATATATATATATATATT ATATATATATA	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19091.hp2 NA19072.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0175 a0001c0001t0002g0176 a0001c0001t0001g0175 a0001c0001t0002g0176	2	408	0.0049	39	c.253 others(56): Show c.253+3142_253+3143insAAATATATATATATATATATATATATAT ATATATATATA	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18995.hp1 NA19005.hp2 NA18948.hp2 NA18995.hp1 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0002c0004t0003 a0001c0001t0002 a0001c0001t0003 a0002c0004t0003	a0001c0001t0002g0165 a0001c0001t0003g0164 a0002c0004t0003g0022 a0001c0001t0002g0165 a0001c0001t0003g0164 a0002c0004t0003g0022	3	408	0.0074	39	c.253 others(56): Show c.253+3142_253+3143insAAAAATATATATATATATATATATATAT ATATATATATA	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLUL1_chr18_591988_655182	627023	G G	GAGAGAGA others(32): Show GAGAGAGAAAGAAAGAGAAAAGAAGAAAGAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03654.hp2 HG04204.hp1 HG00735.hp1 HG03654.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0171 a0001c0001t0001g0195 a0001c0001t0001g0089 a0001c0001t0001g0171 a0001c0001t0001g0195	3	414	0.0073	39	c.424 others(52): Show c.424-73_424-72insGAGAGAAAGAAAGAGAAAAGAAGAAAGAGAAA GAAAGAA	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CMIP_chr16_81439808_81716762	81704496	C C	CCCCCCTC others(32): Show CCCCCCTCACCCTCCTCCTGCCCCCCACCCTCCTCTCTTT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0001 a0001c0001t0020g0001	1	268	0.0037	39	c.209 others(56): Show c.2091+415_2091+416insCTCACCCTCCTCCTGCCCCCCACCCTCC TCTCTTTCCCC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81704520	C C	CACCCTCC others(32): Show CACCCTCCTCTCTTTCCCCCTCACCCTCCTCCCTGCCCCT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	268	0.0037	39	c.209 others(56): Show c.2091+435_2091+436insACCCTCCTCTCTTTCCCCCTCACCCTCC TCCCTGCCCCT	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20			chr16	TogoVar
CMIP_chr16_81439808_81716762	81704520	C C	CCACCCTC others(32): Show CCACCCTCCTCTCTTTCCCCTCACCCTCCTCCCTGCCCCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG00735.hp1 others(11): Show HG00423.hp2 HG00597.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01884.hp1 HG02280.hp2 HG02723.hp1 HG03195.hp1 HG06807.hp2 NA18522.hp2 NA18967.hp2 NA18995.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0016 a0001c0001t0047 a0001c0001t0050 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0205 a0001c0001t0003g0015 a0001c0001t0003g0098 others(11): Show a0001c0001t0001g0205 a0001c0001t0003g0015 a0001c0001t0003g0098 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0268 a0001c0001t0006g0182 a0001c0001t0010g0195 a0001c0001t0016g0236 a0001c0001t0016g0242 a0001c0001t0047g0075 a0001c0001t0050g0082 a0001c0002t0001g0192 a0001c0002t0004g0162	14	268	0.0522	39	c.209 others(56): Show c.2091+435_2091+436insCACCCTCCTCTCTTTCCCCTCACCCTCC TCCCTGCCCCT	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20			chr16	TogoVar
CNBD1_chr8_86861415_87387859	87129069	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0091 a0002c0002t0001g0091	1	152	0.0066	39	c.432 others(58): Show c.432-76902_432-76901insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87352478	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	152	0.0066	39	c.115 others(56): Show c.1152+702_1152+703insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNGB1_chr16_57877340_57976128	57879770	T T	TTTCTTTC others(32): Show TTTCTTTCTTTTTCTTTCTTTCCTTTCTTTCTTTCTTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0155	1	360	0.0028	39	c.43 others(50): Show c.4393_*4394insGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAAAGA AAGAA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2569		chr16	TogoVar
CNKSR3_chr6_154382515_154515685	154415227	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0189 a0001c0001t0099g0189	1	342	0.0029	39	c.946 others(54): Show c.946-805_946-804insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	9/12			chr6	TogoVar
CNNM2_chr10_102913294_103095222	103087140	A A	ATTTTTTT others(32): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0059 a0002c0004t0059	a0002c0004t0059g0217 a0002c0004t0059g0217	1	270	0.0037	39	c.99 others(50): Show c.9992_*9993insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	8/8	9993	INFO_REALIGN_3_PRIME	chr10	TogoVar
CNOT10_chr3_32680188_32778875	32735330	G G	GCGAGACT others(32): Show GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18953.hp2 HG03516.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0217 a0001c0001t0001g0222	2	354	0.0057	39	c.151 others(56): Show c.1514+354_1514+355insCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAA	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	12/18			chr3	TogoVar
CNOT10_chr3_32680188_32778875	32754489	A A	AAAAAAAA others(32): Show AAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	354	0.0028	39	c.159 others(58): Show c.1596-4968_1596-4967insAAAAAAAAATATATATATATATATAT ATATATATATATA	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT10_chr3_32680188_32778875	32754489	A A	AAAAAAAT others(32): Show AAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0143 a0001c0001t0001g0144	2	354	0.0057	39	c.159 others(58): Show c.1596-4968_1596-4967insAAAAATATATATATATATATATATAT ATATATATATATA	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT3_chr19_54132762_54160681	54134028	A A	ACCTCCCC others(32): Show ACCTCCCCTCTCTCCCTCCCTCTCTCCACCTTCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG01071.hp2 others(41): Show HG00099.hp1 HG00280.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp1 HG01169.hp2 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG02004.hp2 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03834.hp1 HG04184.hp1 HG04228.hp1 NA18983.hp1 NA19057.hp2 NA19084.hp2 NA19090.hp2 NA19240.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0003c0010 a0004c0011	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0013t0001 a0003c0010t0001 a0004c0011t0001	a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0044 others(28): Show a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0148 a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0123 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0137 a0001c0002t0001g0139 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0002g0124 a0001c0003t0001g0110 a0001c0013t0001g0136 a0003c0010t0001g0144 a0004c0011t0001g0133	44	223	0.1973	39	c.-40 others(50): Show c.-4016_-4015insCCTCCCCTCTCTCCCTCCCTCTCTCCACCTTCCC TCTCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3733		chr19	TogoVar
CNOT7_chr8_17219966_17251857	17238826	T T	TCTACTCT others(32): Show TCTACTCTAGTATTGAAGATCTTTTACTTAGACTAAGCAG	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0078 a0001c0001t0005g0078	1	408	0.0025	39	c.312 others(56): Show c.312-1454_312-1453insCTGCTTAGTCTAAGTAAAAGATCTTCAA TACTAGAGTAG	CNOT7	ENSG00000198791.12	transcript	ENST00000361272.9	protein_coding	3/6			chr8	TogoVar
CNTFR_chr9_34546433_34594724	34592224	C C	CTGCGCCA others(32): Show CTGCGCCAGCCCCCTTCTGTGTCATGTCACTTATCCTTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	402	0.0025	39	c.-27 others(50): Show c.-2782_-2781insTTAAGGATAAGTGACATGACACAGAAGGGGGCTG GCGCA	CNTFR	ENSG00000122756.15	transcript	ENST00000378980.8	protein_coding		2501		chr9	TogoVar
CNTN4_chr3_2093866_3062959	2120405	A A	ATATAAAT others(32): Show ATATAAATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0001 a0001c0005t0010g0001	1	116	0.0086	39	c.-14 others(60): Show c.-145+19767_-145+19768insATAAATATATATATATATATATAT ATATTTTTTTTTTTT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN5_chr11_99015949_100363885	100176318	C C	CTAACATT others(32): Show CTAACATTTTTATTATATTCTTATGATGGTAACACTTTTA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG01099.hp2 others(2): Show HG00738.hp1 HG01081.hp1 HG01099.hp2 HG02258.hp1 NA19043.hp2	a0002 a0005 a0010 a0002 a0005 a0010	a0002c0002 a0005c0005 a0010c0010 a0002c0002 a0005c0005 a0010c0010	a0002c0002t0003 a0002c0002t0008 a0005c0005t0018 others(1): Show a0002c0002t0003 a0002c0002t0008 a0005c0005t0018 a0010c0010t0011	a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0008g0019 others(2): Show a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0008g0019 a0005c0005t0018g0028 a0010c0010t0011g0009	5	66	0.0758	39	c.158 others(60): Show c.1581-14806_1581-14805insACATTTTTATTATATTCTTATGAT GGTAACACTTTTATA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1245240	A A	ATATATAT others(32): Show ATATATATATATAACATATATATATATAACATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03579.hp2 HG01952.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0190 a0001c0006t0001g0183 a0001c0001t0001g0190 a0001c0006t0001g0183	2	232	0.0086	39	c.358 others(58): Show c.358+17247_358+17248insTATATATATATAACATATATATATAT AACATATATATAT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22			chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146721889	A A	ATATATAT others(32): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0029 a0001c0003t0004g0029	1	40	0.0250	39	c.98- others(56): Show c.98-52381_98-52380insATATATATATATATATATATTTTTTTTT TTTTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147084344	A A	AATCCATA others(32): Show AATCCATATATGCATAATGCTATATATGTATATATAATCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02896.hp2 HG02897.hp2 others(1): Show HG02717.hp2 HG02896.hp2 HG02897.hp2 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0009 a0001c0004 a0001c0005 a0001c0009	a0001c0004t0003 a0001c0005t0008 a0001c0009t0019 a0001c0004t0003 a0001c0005t0008 a0001c0009t0019	a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0005t0008g0005 others(1): Show a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0005t0008g0005 a0001c0009t0019g0027	4	40	0.1000	39	c.551 others(58): Show c.551-23801_551-23800insCCATATATGCATAATGCTATATATGT ATATATAATCCAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147586523	G G	GAAGAGGG others(32): Show GAAGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02896.hp2 others(2): Show HG02451.hp2 HG02486.hp1 HG02896.hp2 HG02897.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0016 a0001c0001 a0001c0004 a0002c0016	a0001c0001t0002 a0001c0001t0007 a0001c0004t0003 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0004t0003 a0002c0016t0004	a0001c0001t0002g0006 a0001c0001t0007g0020 a0001c0004t0003g0035 others(2): Show a0001c0001t0002g0006 a0001c0001t0007g0020 a0001c0004t0003g0035 a0001c0004t0003g0036 a0002c0016t0004g0024	5	40	0.1250	39	c.189 others(60): Show c.1897+24267_1897+24268insAGAGGGAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148391414	A A	ACAAAAGA others(32): Show ACAAAAGACTTACACATTATGATTTAAGTTGACTTGATTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02486.hp1 others(8): Show HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02897.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp2 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0001c0015 a0001c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0008t0001 a0001c0015t0001 a0001c0018t0002	a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0002g0006 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0002g0006 a0001c0001t0007g0018 a0001c0001t0007g0020 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0021 a0001c0008t0001g0025 a0001c0015t0001g0011 a0001c0018t0002g0012	11	40	0.2750	39	c.371 others(58): Show c.3715+7527_3715+7565dupCAAAAGACTTACACATTATGATTTAA GTTGACTTGATTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP5_chr2_124020287_124926219	124571527	C C	CTTTTTCT others(32): Show CTTTTTCTTTTTCTCTTTGTTTTCTTTTTTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0012 a0001c0001t0017g0012	1	64	0.0156	39	c.175 others(58): Show c.1756+8209_1756+8210insCTTTTTCTCTTTGTTTTCTTTTTTCT TTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124707018	G G	GAGAAGAA others(32): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0041 a0001c0001t0013g0041	1	64	0.0156	39	c.207 others(60): Show c.2078-40188_2078-40187insAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124707039	A A	AAGAAGAA others(32): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0051 a0001c0002t0019g0051	1	64	0.0156	39	c.207 others(60): Show c.2078-40188_2078-40187insAAGAAGAAGAAGAAGAAGAAGAAG AAGGAGGAGGAGGAG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL16A1_chr1_31647263_31709017	31704377	C C	CGGGTGGG others(32): Show CGGGTGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0112 a0001c0010t0001g0112	1	342	0.0029	39	c.-57 others(48): Show c.-576_-575insCCCCGCCCCCCCCCCCCCCCCCACCCCCCCCCCCCA CCC	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding		361		chr1	TogoVar
COL24A1_chr1_85724233_86161772	85799211	A A	AAAAAAAG others(32): Show AAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0203 a0007c0014t0001g0203	1	238	0.0042	39	c.395 others(60): Show c.3952-12751_3952-12750insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTTTT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	47/59			chr1	TogoVar
COL4A1_chr13_110143963_110312157	110255579	A A	AGGCAGGC others(32): Show AGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA19010.hp2 NA18957.hp1 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0069 a0002c0024 a0001c0069 a0002c0024	a0001c0069t0001 a0002c0024t0010 a0001c0069t0001 a0002c0024t0010	a0001c0069t0001g0160 a0002c0024t0010g0336 a0001c0069t0001g0160 a0002c0024t0010g0336	2	344	0.0058	39	c.85- others(56): Show c.85-12884_85-12846dupCCCTCCCTTCCTGCCTGCCCCCTTCCCT TCCTGCCTGCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255826	A A	AAGGGGGA others(32): Show AAGGGGGAAGGCAGGAAGGGAGGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0025 a0001c0006t0001g0025	1	344	0.0029	39	c.85- others(56): Show c.85-13093_85-13092insCCCTTCCTGCCTTCCCCCCTCCCTTCCT GCCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255845	G G	GAGGGGGA others(32): Show GAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0001 a0004c0017t0001	a0004c0017t0001g0004 a0004c0017t0001g0004	1	344	0.0029	39	c.85- others(56): Show c.85-13150_85-13112dupTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255883	G G	GAGGGGGA others(32): Show GAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0275 a0002c0002t0002g0275	1	344	0.0029	39	c.85- others(56): Show c.85-13188_85-13150dupTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110474866	C C	CACGTACC others(32): Show CACGTACCCACACACGTGCCTGTGTACACTCACACATGAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0018 a0001c0022t0018	a0001c0022t0018g0173 a0001c0022t0018g0173	1	372	0.0027	39	c.242 others(58): Show c.2425+1716_2425+1717insACGTACCCACACACGTGCCTGTGTAC ACTCACACATGAT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	29/47			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0077 a0009c0008t0001g0077	1	344	0.0029	39	c.546 others(54): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATTTTTTTT	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(32): Show ATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0006 a0006c0016t0006	a0006c0016t0006g0267 a0006c0016t0006g0267	1	344	0.0029	39	c.546 others(54): Show c.546+711_546+712insATATATATATATATATATATATATATATAT TTTTTTTTT	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(32): Show ATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0025 a0025	a0025c0043 a0025c0043	a0025c0043t0012 a0025c0043t0012	a0025c0043t0012g0233 a0025c0043t0012g0233	1	344	0.0029	39	c.546 others(54): Show c.546+711_546+712insATATATATATATATATATATATATATTTTT TTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249231	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	344	0.0029	39	c.546 others(54): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATATATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227045808	A A	ACACATAT others(32): Show ACACATATATATGTATATATATTTAGATAGTATATATATG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02451.hp2 HG01934.hp1 HG02451.hp2	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0003 a0012c0011t0003	a0012c0011t0003g0138 a0012c0011t0003g0219 a0012c0011t0003g0138 a0012c0011t0003g0219	2	284	0.0070	39	c.328 others(58): Show c.3289+1666_3289+1667insCATATATATACTATCTAAATATATAT ACATATATATGTG	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	35/47			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134644166	A A	AGAGGGGG others(32): Show AGAGGGGGCGGCTGTCCACTGGAGATGCAGGCGCTGGGGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0261 a0001c0009t0003g0261	1	272	0.0037	39	c.109 others(56): Show c.109+1903_109+1941dupCTGGGGGGAGGGGGCGGCTGTCCACTGG AGATGCAGGCG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134644202	G G	GGGGGAGG others(32): Show GGGGGAGGGGGCGGCTGTCCACTGGAGATGCAGGCGTGGC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0254 a0001c0002t0001g0254	1	272	0.0037	39	c.109 others(56): Show c.109+1942_109+1980dupTGGCGGGGAGGGGGCGGCTGTCCACTGG AGATGCAGGCG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134644241	C C	CGGGGAGG others(32): Show CGGGGAGGGGGCGGCTGTCCACTGGAGATGCAGGCGCTGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0252 a0001c0002t0001g0252	1	272	0.0037	39	c.109 others(56): Show c.109+1980_109+2018dupGCTGGGGGGAGGGGGCGGCTGTCCACTG GAGATGCAGGC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134644540	A A	AATGCAGG others(32): Show AATGCAGGCGTGGCGGGGAGGGGGCGGCTGTCCACTGGAG	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA20805.hp1 HG01515.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0027 a0001c0002t0001 a0001c0001t0027 a0001c0002t0001	a0001c0001t0027g0210 a0001c0002t0001g0209 a0001c0001t0027g0210 a0001c0002t0001g0209	2	272	0.0074	39	c.109 others(56): Show c.109+2246_109+2284dupTGCAGGCGTGGCGGGGAGGGGGCGGCTG TCCACTGGAGA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134760318	G G	GCACACAC others(32): Show GCACACACACACCCACACACCCCCACACACCACACATGCA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	272	0.0037	39	c.193 others(58): Show c.1936-1600_1936-1599insACACCCACACACCCCCACACACCACA CATGCACACACAC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A6_chr3_130512177_130682042	130636863	T T	TCCCCTTC others(32): Show TCCCCTTCCTCCCCCCTTCCTCCCCTTCCCCTTCCTCCCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0049 a0049	a0049c0057 a0049c0057	a0049c0057t0004 a0049c0057t0004	a0049c0057t0004g0091 a0049c0057t0004g0091	1	264	0.0038	39	c.509 others(58): Show c.5091+1104_5091+1105insCCTTCCTCCCCCCTTCCTCCCCTTCC CCTTCCTCCCCCC	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0026 a0002c0002t0004g0026	1	438	0.0023	39	c.-11 others(50): Show c.-1118_-1117insAAATAAATATATATATATATATATATATATATAT ATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0046 a0003c0005t0001g0046	1	438	0.0023	39	c.-11 others(50): Show c.-1118_-1117insAAAAAAAAATATATATATATATATATATATATAT ATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA19086.hp1 NA19240.hp2 NA18993.hp1 NA19086.hp1 NA19240.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0001 a0003c0005t0001 a0002c0002t0001 a0003c0005t0001	a0002c0002t0001g0023 a0003c0005t0001g0004 a0003c0005t0001g0105 a0002c0002t0001g0023 a0003c0005t0001g0004 a0003c0005t0001g0105	3	438	0.0069	39	c.-11 others(50): Show c.-1118_-1117insAAAAAAAAAAATATATATATATATATATATATAT ATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A3_chr20_62812050_62846159	62832770	A A	AAGTTCTG others(32): Show AAGTTCTGCTTGGCAGAAAAGCCTCATTATGCAAACAAAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00597.hp2 others(36): Show HG00544.hp1 HG00558.hp2 HG00597.hp2 HG01167.hp1 HG01169.hp2 HG01516.hp2 HG01891.hp1 HG02129.hp2 HG02300.hp2 HG02559.hp1 HG02622.hp2 HG02723.hp2 HG02809.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp2 NA18612.hp1 NA18959.hp1 NA18961.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18985.hp2 NA18993.hp1 NA18993.hp2 NA19003.hp1 NA19030.hp2 NA19043.hp1 NA19082.hp1 NA19088.hp1 NA19240.hp1 NA21309.hp1 NA21309.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0001c0004 a0001c0005 others(7): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0013 a0001c0024 a0001c0041 a0019c0038	a0001c0001t0001 a0001c0004t0001 a0001c0004t0003 others(9): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0003 a0001c0004t0006 a0001c0005t0001 a0001c0006t0001 a0001c0007t0002 a0001c0010t0002 a0001c0013t0002 a0001c0024t0002 a0001c0041t0003 a0019c0038t0001	a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0132 others(35): Show a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0132 a0001c0004t0001g0055 a0001c0004t0001g0065 a0001c0004t0001g0072 a0001c0004t0001g0073 a0001c0004t0001g0075 a0001c0004t0001g0078 a0001c0004t0001g0111 a0001c0004t0001g0127 a0001c0004t0001g0129 a0001c0004t0003g0121 a0001c0004t0003g0122 a0001c0004t0006g0069 a0001c0005t0001g0109 a0001c0005t0001g0115 a0001c0005t0001g0116 a0001c0005t0001g0126 a0001c0005t0001g0131 a0001c0006t0001g0293 a0001c0007t0002g0011 a0001c0007t0002g0066 a0001c0007t0002g0067 a0001c0007t0002g0068 a0001c0007t0002g0070 a0001c0007t0002g0114 a0001c0007t0002g0118 a0001c0007t0002g0120 a0001c0007t0002g0128 a0001c0007t0002g0130 a0001c0010t0002g0133 a0001c0010t0002g0134 a0001c0010t0002g0349 a0001c0013t0002g0064 a0001c0024t0002g0056 a0001c0041t0003g0113 a0019c0038t0001g0117	39	412	0.0947	39	c.132 others(56): Show c.1324-250_1324-249insAGTTCTGCTTGGCAGAAAAGCCTCATTA TGCAAACAAAT	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	25/31			chr20	TogoVar

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Search Results (Total: 3425 hits)