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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
C1orf21_chr1_184382029_184634019	184559476	C C	CTCCTTCC others(21): Show CTCCTTCCCCCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02258.hp1 HG02965.hp1 others(1): Show HG01192.hp1 HG02258.hp1 HG02965.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 others(1): Show a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0003g0153	4	232	0.0172	28	c.190 others(47): Show c.190-31256_190-31255insCCCCTTCCTTCCTTCCTTCCTTCCTT CC	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf50_chr1_42762249_42784491	42775762	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03490.hp2 HG03492.hp2 NA18985.hp2 others(1): Show HG03490.hp2 HG03492.hp2 NA18985.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0106 a0001c0001t0030 a0001c0001t0106	a0001c0001t0030g0005 a0001c0001t0106g0005 a0001c0001t0030g0005 a0001c0001t0106g0005	4	418	0.0096	28	c.39 others(37): Show c.392_*393insTATATATATATATATATATATATATATA	C1orf50	ENSG00000164008.17	transcript	ENST00000372525.7	protein_coding	5/5	393	INFO_REALIGN_3_PRIME	chr1	TogoVar
C20orf203_chr20_32626625_32678941	32666797	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02723.hp2 HG03017.hp2 others(6): Show HG02015.hp2 HG02723.hp2 HG03017.hp2 HG03453.hp2 HG03654.hp2 HG03688.hp1 HG03834.hp2 HG04228.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0019	a0001c0001t0001g0323 a0001c0001t0002g0245 a0001c0001t0002g0263 others(6): Show a0001c0001t0001g0323 a0001c0001t0002g0245 a0001c0001t0002g0263 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0009g0322 a0001c0001t0011g0274 a0001c0001t0019g0184	9	360	0.0250	28	c.-26 others(47): Show c.-264+6807_-264+6834dupTATATATATATATATATATATATATA TA	C20orf203	ENSG00000198547.10	transcript	ENST00000608990.6	protein_coding	1/5			chr20	TogoVar
C20orf203_chr20_32626625_32678941	32666797	T T	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01099.hp1 HG04115.hp1 HG00733.hp1 HG01099.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242	3	360	0.0083	28	c.-26 others(47): Show c.-264+6834_-264+6835insTATATATATATATATATATATATATA AA	C20orf203	ENSG00000198547.10	transcript	ENST00000608990.6	protein_coding	1/5			chr20	TogoVar
C20orf85_chr20_58145902_58166150	58163238	C C	CCTCCCTA others(21): Show CCTCCCTACCCCCCCCCACCTCTATTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	330	0.0030	28	c.24 others(39): Show c.2416_*2417insCTCCCTACCCCCCCCCACCTCTATTGCT	C20orf85	ENSG00000124237.6	transcript	ENST00000371168.4	protein_coding		2089		chr20	TogoVar
C20orf96_chr20_265863_295750	278933	A A	AGGGAGGG others(21): Show AGGGAGGGAGGGGCGGAGGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	410	0.0024	28	c.465 others(43): Show c.465+238_465+239insGCCCTCCCTCCCTCCGCCCCTCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	278941	C C	CGGGACGG others(21): Show CGGGACGGAGGGAGGGAGGGCGGGACGGA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18940.hp2 NA18747.hp1 NA18940.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0143 a0002c0002t0001g0188 a0002c0002t0001g0143 a0002c0002t0001g0188	2	410	0.0049	28	c.465 others(43): Show c.465+203_465+230dupTCCGTCCCGCCCTCCCTCCCTCCGTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	278946	C C	CGGAGGGA others(21): Show CGGAGGGAGGGAGGGCGGGACGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0033 a0002c0004t0003g0033	1	410	0.0024	28	c.465 others(43): Show c.465+198_465+225dupCTCCCTCCGTCCCGCCCTCCCTCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	278956	G G	GAGGGCAG others(21): Show GAGGGCAGGAGGGAGGGACGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03704.hp2 HG03239.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0307 a0001c0003t0001g0329 a0001c0001t0001g0307 a0001c0003t0001g0329	2	410	0.0049	28	c.465 others(43): Show c.465+215_465+216insTCCTCCCTCCGTCCCTCCCTCCTGCCCT	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	278981	A A	AGGGACGG others(21): Show AGGGACGGAGGGCGGGACGGCGGGAGGGC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0285 a0002c0002t0001g0285	1	410	0.0024	28	c.465 others(43): Show c.465+163_465+190dupGCCCTCCCGCCGTCCCGCCCTCCGTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C21orf62_chr21_32785673_32818703	32804275	T T	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0149 a0001c0002t0014g0149	1	303	0.0033	28	c.-65 others(45): Show c.-65+3366_-65+3367insTATATATATATATATATATATATATAAA	C21orf62	ENSG00000205929.11	transcript	ENST00000479548.2	protein_coding	3/3			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41908243	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp1 HG02135.hp1 others(4): Show HG00642.hp1 HG00673.hp1 HG02135.hp1 HG03704.hp1 NA18961.hp1 NA18985.hp1 NA18989.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0004 a0001c0001t0006 a0003c0009t0002 others(2): Show a0001c0001t0004 a0001c0001t0006 a0003c0009t0002 a0003c0009t0007 a0003c0009t0032	a0001c0001t0004g0113 a0001c0001t0006g0277 a0003c0009t0002g0369 others(4): Show a0001c0001t0004g0113 a0001c0001t0006g0277 a0003c0009t0002g0369 a0003c0009t0007g0169 a0003c0009t0007g0208 a0003c0009t0007g0292 a0003c0009t0032g0039	7	396	0.0177	28	c.101 others(45): Show c.1019-460_1019-459insCACACACACACACACACACACACACACA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	8/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947112	T T	TTCTCTCC others(21): Show TTCTCTCCCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01943.hp1 HG03041.hp1 others(2): Show HG01358.hp2 HG01943.hp1 HG03041.hp1 HG03486.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0004 a0001c0005 others(1): Show a0001c0002 a0001c0004 a0001c0005 a0003c0036	a0001c0002t0001 a0001c0002t0002 a0001c0004t0009 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0009 a0001c0005t0005 a0003c0036t0051	a0001c0002t0001g0132 a0001c0002t0002g0133 a0001c0004t0009g0137 others(2): Show a0001c0002t0001g0132 a0001c0002t0002g0133 a0001c0004t0009g0137 a0001c0005t0005g0348 a0003c0036t0051g0148	5	396	0.0126	28	c.280 others(45): Show c.280-4868_280-4867insGAGAGAGAGAGAGAGAGAGAGGGAGAGA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947112	T T	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03209.hp2 HG01255.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0001 a0001c0001t0002 a0001c0007t0001	a0001c0001t0002g0291 a0001c0007t0001g0283 a0001c0001t0002g0291 a0001c0007t0001g0283	2	396	0.0051	28	c.280 others(45): Show c.280-4895_280-4868dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947137	T T	TCTCTCTC others(21): Show TCTCTCTCTCTCTCTCTCTCTCTCCCTCC	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA18966.hp1 HG02300.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0004 a0001c0001t0002 a0001c0003t0004	a0001c0001t0002g0367 a0001c0003t0004g0219 a0001c0001t0002g0367 a0001c0003t0004g0219	2	396	0.0051	28	c.280 others(45): Show c.280-4893_280-4892insGGAGGGAGAGAGAGAGAGAGAGAGAGAG	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947137	T T	TCTCTCTC others(21): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG01099.hp1 others(21): Show HG00140.hp1 HG00738.hp2 HG01099.hp1 HG01515.hp2 HG01952.hp1 HG01952.hp2 HG02257.hp2 HG02735.hp2 HG02897.hp1 HG02897.hp2 HG04228.hp1 HG04228.hp2 NA18940.hp2 NA18945.hp1 NA18954.hp1 NA18973.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp2 NA18992.hp1 NA19003.hp2 NA19087.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0014 a0002c0008 a0002c0027 a0003c0009 a0005c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0023 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0003t0001 a0001c0003t0003 a0001c0005t0007 a0001c0014t0005 a0002c0008t0005 a0002c0027t0009 a0003c0009t0007 a0005c0019t0003	a0001c0001t0001g0380 a0001c0001t0002g0058 a0001c0001t0002g0168 others(21): Show a0001c0001t0001g0380 a0001c0001t0002g0058 a0001c0001t0002g0168 a0001c0001t0003g0342 a0001c0001t0004g0038 a0001c0001t0005g0379 a0001c0001t0007g0207 a0001c0001t0023g0057 a0001c0002t0001g0393 a0001c0002t0002g0216 a0001c0002t0002g0382 a0001c0002t0003g0015 a0001c0002t0003g0217 a0001c0002t0006g0381 a0001c0003t0001g0209 a0001c0003t0003g0055 a0001c0003t0003g0056 a0001c0003t0003g0267 a0001c0005t0007g0308 a0001c0014t0005g0251 a0002c0008t0005g0250 a0002c0027t0009g0317 a0003c0009t0007g0208 a0005c0019t0003g0037	24	396	0.0606	28	c.280 others(45): Show c.280-4893_280-4892insGGAGAGAGAGAGAGAGAGAGAGAGAGAG	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD3_chr11_74007718_74176002	74116927	C C	CGTGTATA others(21): Show CGTGTATATACACATATACACGTATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0020 a0020	a0020c0040 a0020c0040	a0020c0040t0001 a0020c0040t0001	a0020c0040t0001g0301 a0020c0040t0001g0301	1	318	0.0031	28	c.152 others(47): Show c.1520+1273_1520+1300dupATATATACGTGTATATGTGTATATAC AC	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74116987	C C	CATATACG others(21): Show CATATACGTGTATATGTATATATACACAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01358.hp2 HG01361.hp1 others(3): Show HG01109.hp2 HG01358.hp2 HG01361.hp1 HG02738.hp1 HG03669.hp1 NA20905.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0014 a0001c0001 a0013c0014	a0001c0001t0001 a0013c0014t0001 a0001c0001t0001 a0013c0014t0001	a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0151 others(3): Show a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0151 a0013c0014t0001g0130 a0013c0014t0001g0134 a0013c0014t0001g0153	6	318	0.0189	28	c.152 others(47): Show c.1520+1213_1520+1240dupATGTGTATATATACATATACACGTAT AT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74117361	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0078 a0002c0003t0001g0078	1	318	0.0031	28	c.152 others(45): Show c.1520+839_1520+866dupATATATATATATATATATATATATATAT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74146747	C C	CACACACA others(21): Show CACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0213 a0002c0003t0001g0213	1	318	0.0031	28	c.484 others(45): Show c.484-6920_484-6919insATGTGTGTGTGTGTGTGTGTGTGTGTGT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	3/32			chr11	TogoVar
C2CD4C_chr19_400445_414147	400492	G G	GGGTTCCC others(21): Show GGGTTCCCAGGCCCACTCTCACTCTTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0095 a0001c0001t0116g0095	1	322	0.0031	28	c.66 others(39): Show c.6603_*6604insTGGAAGAGTGAGAGTGGGCCTGGGAACC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		4952		chr19	TogoVar
C2CD4C_chr19_400445_414147	400936	G G	GGGTTCCC others(21): Show GGGTTCCCAGGCCCACCCTCACTCTTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0119 a0001c0001t0119	a0001c0001t0119g0174 a0001c0001t0119g0174	1	322	0.0031	28	c.61 others(39): Show c.6159_*6160insTGGAAGAGTGAGGGTGGGCCTGGGAACC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		4508		chr19	TogoVar
C2CD4C_chr19_400445_414147	404700	G G	GGGGGGGA others(21): Show GGGGGGGACGGGGTCCTGCCCTGAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0000 a0000	a0000c0003 a0000c0003	a0000c0003t0023 a0000c0003t0023	a0000c0003t0023g0117 a0000c0003t0023g0117	1	322	0.0031	28	c.23 others(39): Show c.2395_*2396insACCCCTCAGGGCAGGACCCCGTCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		744		chr19	TogoVar
C2CD4C_chr19_400445_414147	404762	T T	TGGGGGGG others(21): Show TGGGGGGGGGACGGGGTCCTGCCCTGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19070.hp1 NA19064.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0135 a0001c0001t0036 a0001c0001t0135	a0001c0001t0036g0086 a0001c0001t0135g0108 a0001c0001t0036g0086 a0001c0001t0135g0108	2	322	0.0062	28	c.23 others(39): Show c.2333_*2334insCCTCAGGGCAGGACCCCGTCCCCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		682		chr19	TogoVar
C2orf69_chr2_199906293_199933273	199922031	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01099.hp1 HG01358.hp2 others(9): Show HG00741.hp1 HG01099.hp1 HG01358.hp2 HG02258.hp2 HG02647.hp2 HG04228.hp2 NA18955.hp1 NA18973.hp2 NA18977.hp1 NA18981.hp1 NA19066.hp2 NA19082.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0008c0008	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002 a0002c0003t0002 a0002c0003t0014 a0008c0008t0002	a0001c0001t0003g0063 a0001c0001t0003g0165 a0001c0001t0003g0179 others(7): Show a0001c0001t0003g0063 a0001c0001t0003g0165 a0001c0001t0003g0179 a0001c0001t0005g0148 a0001c0001t0006g0206 a0001c0002t0002g0019 a0001c0002t0002g0083 a0002c0003t0002g0069 a0002c0003t0014g0069 a0008c0008t0002g0019	12	412	0.0291	28	c.334 others(45): Show c.334-3008_334-3007insATATATATATATATATATATATATATAT	C2orf69	ENSG00000178074.6	transcript	ENST00000319974.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf72_chr2_231032523_231054719	231044945	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0063 a0002c0001t0003g0063	1	460	0.0022	28	c.749 others(45): Show c.749-1919_749-1918insTATATATATATATATATATATATATATA	C2orf72	ENSG00000204128.6	transcript	ENST00000373640.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf72_chr2_231032523_231054719	231044962	T T	TATATATA others(21): Show TATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0012 a0002c0006t0012	a0002c0006t0012g0206 a0002c0006t0012g0206	1	460	0.0022	28	c.749 others(45): Show c.749-1919_749-1918insTATATATATATATATATATACACACACA	C2orf72	ENSG00000204128.6	transcript	ENST00000373640.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf78_chr2_73779183_73822148	73810969	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0186 a0005c0006t0001g0186	1	212	0.0047	28	c.98- others(43): Show c.98-2490_98-2489insATATATATATATATATATATATATATAT	C2orf78	ENSG00000187833.8	transcript	ENST00000409561.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf88_chr2_190175863_190208484	190192452	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0113 a0002c0002t0002g0113	1	420	0.0024	28	c.-16 others(47): Show c.-164-7233_-164-7206dupGTGTGTGTGTGTGTGTGTGTGTGTGT GT	C2orf88	ENSG00000187699.10	transcript	ENST00000340623.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf92_chr2_97664713_97708066	97705958	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01361.hp1 HG01346.hp1 HG01361.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0038 a0003c0003t0001g0039 a0003c0003t0001g0038 a0003c0003t0001g0039	2	310	0.0065	28	c.31 others(39): Show c.3157_*3158insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C2orf92	ENSG00000228486.11	transcript	ENST00000627399.4	protein_coding		2893		chr2	TogoVar
C3_chr19_6672704_6725650	6689327	A A	ATCTCTCT others(21): Show ATCTCTCTCTCTCTCTCTCTCTCTCCCTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0341 a0001c0012t0001g0341	1	370	0.0027	28	c.348 others(47): Show c.3489+1301_3489+1302insGAGGGAGAGAGAGAGAGAGAGAGAGA GA	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	27/40			chr19	TogoVar
C3_chr19_6672704_6725650	6700219	T T	TATATAAT others(21): Show TATATAATATATGTAATATACAATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp2 HG02896.hp2 others(6): Show HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03540.hp1 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0010 a0001c0012 a0001c0052 others(1): Show a0001c0010 a0001c0012 a0001c0052 a0007c0038	a0001c0010t0001 a0001c0012t0001 a0001c0052t0001 others(1): Show a0001c0010t0001 a0001c0012t0001 a0001c0052t0001 a0007c0038t0001	a0001c0010t0001g0067 a0001c0010t0001g0068 a0001c0010t0001g0218 others(6): Show a0001c0010t0001g0067 a0001c0010t0001g0068 a0001c0010t0001g0218 a0001c0010t0001g0345 a0001c0010t0001g0349 a0001c0012t0001g0220 a0001c0012t0001g0341 a0001c0052t0001g0288 a0007c0038t0001g0053	9	370	0.0243	28	c.244 others(47): Show c.2440+1907_2440+1908insTATATATTGTATATTACATATATTAT AT	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	19/40			chr19	TogoVar
C3orf38_chr3_88144959_88162965	88162142	G G	GAAAAAAA others(21): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	320	0.0031	28	c.55 others(39): Show c.5507_*5508insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C3orf38	ENSG00000179021.10	transcript	ENST00000318887.8	protein_coding		4178		chr3	TogoVar
C3orf70_chr3_185071838_185158060	185073970	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	388	0.0026	28	c.90 others(39): Show c.9036_*9037insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding		2867		chr3	TogoVar
C3orf70_chr3_185071838_185158060	185079280	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp2 HG01361.hp2 NA18999.hp2 HG01256.hp2 HG01361.hp2 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0040 a0002c0002t0105 a0002c0002t0040 a0002c0002t0105	a0002c0002t0040g0308 a0002c0002t0040g0322 a0002c0002t0105g0357 a0002c0002t0040g0308 a0002c0002t0040g0322 a0002c0002t0105g0357	3	388	0.0077	28	c.37 others(39): Show c.3726_*3727insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	2/2	3726		chr3	TogoVar
C3orf70_chr3_185071838_185158060	185134116	C C	CTCATATA others(21): Show CTCATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0132 a0001c0001t0132	a0001c0001t0132g0362 a0001c0001t0132g0362	1	388	0.0026	28	c.196 others(47): Show c.196+18511_196+18512insATATATATATATATATATATATATAT GA	C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	1/1			chr3	TogoVar
C3orf80_chr3_160220422_160233213	160223765	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	410	0.0024	28	c.-18 others(39): Show c.-1871_-1870insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C3orf80	ENSG00000180044.6	transcript	ENST00000326474.5	protein_coding		1656		chr3	TogoVar
C3orf84_chr3_49172634_49196858	49194290	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19090.hp2 NA19000.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0045 a0001c0002t0001g0003 a0001c0002t0001g0045	2	306	0.0065	28	c.-25 others(39): Show c.-2520_-2519insTATATATATATATATATATATATATATA	C3orf84	ENSG00000236980.10	transcript	ENST00000545770.7	protein_coding		2433		chr3	TogoVar
C3orf84_chr3_49172634_49196858	49195201	C C	CCTGAGGT others(21): Show CCTGAGGTCAGGAGTTCAAGAGTAGCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	306	0.0033	28	c.-34 others(39): Show c.-3431_-3430insCAGGCTACTCTTGAACTCCTGACCTCAG	C3orf84	ENSG00000236980.10	transcript	ENST00000545770.7	protein_coding		3344		chr3	TogoVar
C4orf17_chr4_99506021_99547303	99535330	T T	TTTTCCAA others(21): Show TTTTCCAACTTGGTTCCATTCTCCTCATC	intron_variant intron_variant	MODIFIER	NA18976.hp2 NA18976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	386	0.0026	28	c.547 others(45): Show c.547-2337_547-2310dupTTCCAACTTGGTTCCATTCTCCTCATCT	C4orf17	ENSG00000138813.10	transcript	ENST00000326581.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37508683	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0083 a0001c0001t0005g0083	1	354	0.0028	28	c.-72 others(47): Show c.-72-49336_-72-49335insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37596736	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01884.hp1 HG03654.hp1 others(2): Show HG01081.hp2 HG01884.hp1 HG03654.hp1 HG03927.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0004 a0002c0002t0008 a0001c0001t0003 a0002c0002t0004 a0002c0002t0008	a0001c0001t0003g0022 a0001c0001t0003g0300 a0002c0002t0004g0322 others(2): Show a0001c0001t0003g0022 a0001c0001t0003g0300 a0002c0002t0004g0322 a0002c0002t0008g0076 a0002c0002t0008g0085	5	354	0.0141	28	c.57 others(39): Show c.5736_*5737insTATATATATATATATATATATATATTTT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding		3227		chr4	TogoVar
C4orf33_chr4_129091152_129121637	129115819	T T	TATATAAT others(21): Show TATATAATATATATATGTTTATATATAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03710.hp1 HG03927.hp2 HG03710.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0016 a0001c0001t0027g0016	2	396	0.0051	28	c.40 others(39): Show c.4033_*4034insATATATATATGTTTATATATAACATATA	C4orf33	ENSG00000151470.13	transcript	ENST00000425929.6	protein_coding	6/6	4034	INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf45_chr4_158888134_159040229	158930191	G G	GTCTCTCT others(21): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03209.hp1 HG03130.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0242 a0001c0001t0001g0243	2	264	0.0076	28	c.357 others(47): Show c.357-14833_357-14832insGAGAGAGAGAGAGAGAGAGAGAGAGA GA	C4orf45	ENSG00000164123.7	transcript	ENST00000434826.3	protein_coding	3/4			chr4	TogoVar
C5_chr9_120947335_121055275	121024279	A A	AGGGAGGG others(21): Show AGGGAGGGGGAGGGGAGGGGAGTGGGAGG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	276	0.0036	28	c.100 others(45): Show c.1001-761_1001-760insCCTCCCACTCCCCTCCCCTCCCCCTCCC	C5	ENSG00000106804.10	transcript	ENST00000223642.3	protein_coding	9/40			chr9	TogoVar
C7_chr5_40904497_40989643	40978873	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0193 a0005c0013t0001g0193	1	380	0.0026	28	c.216 others(45): Show c.2166-828_2166-827insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7orf50_chr7_992006_1143247	1041214	C C	CGGGACCT others(21): Show CGGGACCTGGGCTCCGCGCTGCGGGGAAG	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0188 a0001c0001t0004g0188	1	326	0.0031	28	c.130 others(47): Show c.130-31099_130-31072dupCTTCCCCGCAGCGCGGAGCCCAGGTC CC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1041214	C C	CGGTACCT others(21): Show CGGTACCTGGGCTCCGCGCTGCGGGGAAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01192.hp2 NA18943.hp2 HG01099.hp1 HG01192.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008	a0001c0001t0002g0280 a0001c0001t0005g0237 a0001c0001t0008g0153 a0001c0001t0002g0280 a0001c0001t0005g0237 a0001c0001t0008g0153	3	326	0.0092	28	c.130 others(47): Show c.130-31072_130-31071insCTTCCCCGCAGCGCGGAGCCCAGGTA CC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1041217	G G	TACCTGGG others(21): Show TACCTGGGCTCCGCGCTGCGGGGAAGGGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG01358.hp2 others(14): Show HG00639.hp2 HG01109.hp2 HG01358.hp2 HG01891.hp2 HG02622.hp1 HG02630.hp1 HG02818.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG04228.hp2 NA19043.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0006c0006 a0007c0005 a0001c0001 a0006c0006 a0007c0005	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(4): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0016 a0001c0001t0020 a0006c0006t0005 a0007c0005t0008	a0001c0001t0003g0263 a0001c0001t0005g0204 a0001c0001t0005g0212 others(14): Show a0001c0001t0003g0263 a0001c0001t0005g0204 a0001c0001t0005g0212 a0001c0001t0005g0227 a0001c0001t0005g0236 a0001c0001t0005g0308 a0001c0001t0008g0116 a0001c0001t0008g0151 a0001c0001t0008g0166 a0001c0001t0008g0169 a0001c0001t0008g0170 a0001c0001t0008g0171 a0001c0001t0016g0100 a0001c0001t0016g0113 a0001c0001t0020g0001 a0006c0006t0005g0296 a0007c0005t0008g0167	17	326	0.0522	28	c.130 others(47): Show c.130-31074_130-31073insCCCTTCCCCGCAGCGCGGAGCCCAGG TA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1041230	C C	CGCTGCGG others(21): Show CGCTGCGGGGAAGGGGACCTGGGCTCCAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19030.hp1 HG02965.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0299 a0001c0001t0002g0279 a0001c0001t0002g0299	2	326	0.0061	28	c.130 others(47): Show c.130-31088_130-31087insATGGAGCCCAGGTCCCCTTCCCCGCA GC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar

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