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
C1QTNF2_chr5_160342754_160375626	160366851	T T	TACAAATA others(20): Show TACAAATATGGCAAAGACTACAATATGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01106.hp1 HG01167.hp1 others(6): Show HG01070.hp2 HG01106.hp1 HG01167.hp1 HG01175.hp1 HG01255.hp2 HG01433.hp2 HG01516.hp1 HG02109.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004	a0001c0001t0003g0279 a0001c0002t0001g0048 a0001c0002t0004g0049 others(3): Show a0001c0001t0003g0279 a0001c0002t0001g0048 a0001c0002t0004g0049 a0001c0002t0004g0050 a0001c0002t0004g0278 a0001c0002t0004g0280	9	452	0.0199	27	c.-10 others(44): Show c.-10+3660_-10+3661insCCATATTGTAGTCTTTGCCATATTTGT	C1QTNF2	ENSG00000145861.9	transcript	ENST00000652664.2	protein_coding	1/2			chr5	TogoVar
C1orf167_chr1_11757193_11794585	11772894	C C	CATTATTA others(20): Show CATTATTATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02257.hp2 HG02280.hp1 HG01952.hp2 HG02257.hp2 HG02280.hp1	a0001 a0007 a0013 a0001 a0007 a0013	a0001c0001 a0007c0010 a0013c0015 a0001c0001 a0007c0010 a0013c0015	a0001c0001t0001 a0007c0010t0001 a0013c0015t0001 a0001c0001t0001 a0007c0010t0001 a0013c0015t0001	a0001c0001t0001g0158 a0007c0010t0001g0036 a0013c0015t0001g0136 a0001c0001t0001g0158 a0007c0010t0001g0036 a0013c0015t0001g0136	3	350	0.0086	27	c.198 others(44): Show c.1988+656_1988+657insATTATTATTATTATTATTATTATTATT	C1orf167	ENSG00000215910.8	transcript	ENST00000688073.1	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf21_chr1_184382029_184634019	184410626	T T	TATATTAT others(20): Show TATATTATATATATAATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0002 a0001c0001t0025g0002	1	232	0.0043	27	c.-12 others(48): Show c.-125+23262_-125+23263insTATATATATAATATATATATATAA TAT	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf21_chr1_184382029_184634019	184410633	A A	AATATATA others(20): Show AATATATATATATAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03098.hp1 HG02809.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0029 a0001c0001t0028 a0001c0001t0029	a0001c0001t0028g0151 a0001c0001t0029g0158 a0001c0001t0028g0151 a0001c0001t0029g0158	2	232	0.0086	27	c.-12 others(48): Show c.-125+23265_-125+23266insATATATATATATAATATATATATA TAT	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5			chr1	TogoVar
C1orf54_chr1_150267790_150285916	150284003	T T	TTTATTAT others(20): Show TTTATTATTATTATTATTATTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG03486.hp2 HG02922.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	2	434	0.0046	27	c.31 others(38): Show c.3172_*3173insTTATTATTATTATTATTATTATTATTA	C1orf54	ENSG00000118292.9	transcript	ENST00000369099.8	protein_coding		3088		chr1	TogoVar
C20orf141_chr20_2809987_2820830	2814302	C C	CAGTGTAA others(20): Show CAGTGTAATCTGATATACTGATAATCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	414	0.0024	27	c.-74 others(36): Show c.-749_-748insAGTGTAATCTGATATACTGATAATCCA	C20orf141	ENSG00000258713.3	transcript	ENST00000603872.2	protein_coding		684		chr20	TogoVar
C20orf96_chr20_265863_295750	278861	G G	GCGTCTTT others(20): Show GCGTCTTTCCAAGGTGGAGGAAGCACCA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0106 a0001c0005t0001g0106	1	410	0.0024	27	c.465 others(42): Show c.465+310_465+311insTGGTGCTTCCTCCACCTTGGAAAGACG	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C21orf58_chr21_46296130_46328870	46298434	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 NA18962.hp1 HG00738.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0098 a0002c0002t0001g0171 a0002c0002t0001g0098 a0002c0002t0001g0171	2	378	0.0053	27	c.35 others(38): Show c.3564_*3565insAAAAAAAAAAAAAAAAAAAAAAAAAAA	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding		2695		chr21	TogoVar
C22orf42_chr22_32144006_32164303	32145565	A A	AATATAAT others(20): Show AATATAATTTATTATATTATATAATGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03195.hp1 NA18522.hp1 HG02976.hp2 HG03195.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0011 a0002c0002t0002g0090 a0002c0002t0002g0011 a0002c0002t0002g0090	3	398	0.0075	27	c.39 others(38): Show c.3974_*3975insATCATTATATAATATAATAAATTATAT	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3440		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32145659	T T	TTATTATA others(20): Show TTATTATATAATGATATATAATTTGTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	398	0.0025	27	c.38 others(38): Show c.3880_*3881insTAACAAATTATATATCATTATATAATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3346		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32146608	T T	TTATATAT others(20): Show TTATATATATAGTATATAATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00738.hp2 others(3): Show HG00099.hp1 HG00639.hp1 HG00738.hp2 HG01981.hp2 HG02486.hp2 NA20752.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0008 a0002c0004t0003g0027 a0002c0004t0003g0008 a0002c0004t0003g0027	6	398	0.0151	27	c.29 others(38): Show c.2931_*2932insTAATATATATTATATACTATATATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		2397		chr22	TogoVar
C2CD2_chr21_41880112_41959018	41947112	T T	TCTCTCTC others(20): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02135.hp1 HG03704.hp1 others(1): Show HG01169.hp2 HG02135.hp1 HG03704.hp1 NA19012.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0001c0001t0004 a0003c0009t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0003c0009t0007 a0003c0009t0032	a0001c0001t0001g0040 a0001c0001t0004g0298 a0003c0009t0007g0292 others(1): Show a0001c0001t0001g0040 a0001c0001t0004g0298 a0003c0009t0007g0292 a0003c0009t0032g0039	4	396	0.0101	27	c.280 others(44): Show c.280-4868_280-4867insGAGAGAGAGAGAGAGAGAGAGAGAGAG	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947112	T T	TTCTCTCC others(20): Show TTCTCTCCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0005 a0001c0011t0005	a0001c0011t0005g0310 a0001c0011t0005g0310	1	396	0.0025	27	c.280 others(44): Show c.280-4868_280-4867insGAGAGAGAGAGAGAGAGAGAGGAGAGA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947137	T T	TCTCTCTC others(20): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0004 a0001c0013t0004	a0001c0013t0004g0171 a0001c0013t0004g0171	1	396	0.0025	27	c.280 others(44): Show c.280-4893_280-4892insGAGAGAGAGAGAGAGAGAGAGAGAGAG	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C3orf38_chr3_88144959_88162965	88162142	G G	GAAAAAAA others(20): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	320	0.0031	27	c.55 others(38): Show c.5507_*5508insAAAAAAAAAAAAAAAAAAAAAAAAAAA	C3orf38	ENSG00000179021.10	transcript	ENST00000318887.8	protein_coding		4178		chr3	TogoVar
C4orf19_chr4_37448925_37598510	37508683	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0107 a0001c0001t0029g0107	1	354	0.0028	27	c.-72 others(46): Show c.-72-49336_-72-49335insTTTTTTTTTTTTTTTTTTTTTTTTTT T	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(20): Show ATATATATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 NA18952.hp2 NA18970.hp2 HG02074.hp1 NA18952.hp2 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0004 a0001c0001t0007 a0002c0002t0004	a0001c0001t0007g0308 a0002c0002t0004g0294 a0002c0002t0004g0307 a0001c0001t0007g0308 a0002c0002t0004g0294 a0002c0002t0004g0307	3	354	0.0085	27	c.57 others(38): Show c.5736_*5737insTATATATATATATATATATATATATTT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding		3227		chr4	TogoVar
C4orf19_chr4_37448925_37598510	37596736	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0176 a0001c0001t0040g0176	1	354	0.0028	27	c.57 others(38): Show c.5736_*5737insTATATATATATATATATATATATTTTT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding		3227		chr4	TogoVar
C4orf19_chr4_37448925_37598510	37596736	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 NA18971.hp2 NA19058.hp2 HG02040.hp1 NA18971.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0295 a0001c0001t0002g0297 a0001c0001t0002g0311 a0001c0001t0001g0295 a0001c0001t0002g0297 a0001c0001t0002g0311	3	354	0.0085	27	c.57 others(38): Show c.5736_*5737insTATATATATATATATATATATTTTTTT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding		3227		chr4	TogoVar
C4orf19_chr4_37448925_37598510	37596736	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0036 a0001c0001t0042g0036	1	354	0.0028	27	c.57 others(38): Show c.5736_*5737insTATATATATATATATATATTTTTTTTT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding		3227		chr4	TogoVar
C4orf47_chr4_185421254_185454826	185443342	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0108 a0001c0001t0004g0108	1	358	0.0028	27	c.715 others(44): Show c.715-1621_715-1620insATATATATATATATATATATATTTTTT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf47_chr4_185421254_185454826	185443342	A A	ATATATAT others(20): Show ATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	358	0.0028	27	c.715 others(44): Show c.715-1621_715-1620insATATATATATTTTTTTTTTTTTTTTTT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf50_chr4_5954375_6023431	6003860	G G	GTGATGAT others(20): Show GTGATGATGGTGATGGTGATGATGGTGA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA19001.hp2 NA18949.hp2 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0178 a0002c0002t0000g0196 a0002c0002t0000g0178 a0002c0002t0000g0196	2	346	0.0058	27	c.963 others(44): Show c.963+4135_963+4136insTCACCATCATCACCATCACCATCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C5orf46_chr5_147887722_147911538	147908963	C C	CACACAAA others(20): Show CACACAAAACAAAACAAAACAAAACAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG02965.hp1 HG02965.hp2 others(1): Show HG01934.hp2 HG02965.hp1 HG02965.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0033 a0002c0003t0001g0034	4	452	0.0089	27	c.-24 others(38): Show c.-2463_-2462insTTTGTTTTGTTTTGTTTTGTTTTGTGT	C5orf46	ENSG00000178776.5	transcript	ENST00000318315.5	protein_coding		2426		chr5	TogoVar
C6orf132_chr6_42096119_42147620	42132889	G G	GAAAAGAA others(20): Show GAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0033 a0033	a0033c0026 a0033c0026	a0033c0026t0023 a0033c0026t0023	a0033c0026t0023g0044 a0033c0026t0023g0044	1	364	0.0028	27	c.146 others(44): Show c.146-4112_146-4111insTTCTTTTCTTTTCTTTTCTTTTCTTTT	C6orf132	ENSG00000188112.10	transcript	ENST00000341865.9	protein_coding	1/4			chr6	TogoVar
C6orf163_chr6_87339813_87370463	87357782	T T	TCTAGCTA others(20): Show TCTAGCTACACTTGCGTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	436	0.0023	27	c.554 others(44): Show c.554+1281_554+1282insAGCTACACTTGCGTCCCCTCCCCTCCT	C6orf163	ENSG00000203872.7	transcript	ENST00000388923.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
C7_chr5_40904497_40989643	40978873	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01981.hp1 HG03927.hp2 others(4): Show HG00741.hp2 HG01981.hp1 HG03927.hp2 HG04115.hp2 NA19011.hp1 NA19066.hp1 NA20300.hp1	a0003 a0005 a0008 a0003 a0005 a0008	a0003c0003 a0005c0005 a0008c0008 a0003c0003 a0005c0005 a0008c0008	a0003c0003t0001 a0005c0005t0001 a0008c0008t0001 a0003c0003t0001 a0005c0005t0001 a0008c0008t0001	a0003c0003t0001g0238 a0003c0003t0001g0334 a0003c0003t0001g0341 others(4): Show a0003c0003t0001g0238 a0003c0003t0001g0334 a0003c0003t0001g0341 a0005c0005t0001g0143 a0005c0005t0001g0189 a0008c0008t0001g0318 a0008c0008t0001g0355	7	380	0.0184	27	c.216 others(44): Show c.2166-828_2166-827insTTTTTTTTTTTTTTTTTTTTTTTTTTT	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7orf50_chr7_992006_1143247	1016567	A A	AGCACACA others(20): Show AGCACACAGCAGCGCACAGCAGCACACG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02622.hp2 HG02970.hp2 others(4): Show HG02109.hp2 HG02622.hp2 HG02970.hp2 HG03209.hp1 HG03516.hp2 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0298 others(4): Show a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0298 a0001c0001t0014g0158 a0001c0001t0014g0172 a0001c0001t0014g0173 a0001c0001t0014g0174	7	326	0.0215	27	c.130 others(44): Show c.130-6425_130-6424insCGTGTGCTGCTGTGCGCTGCTGTGTGC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1016663	G G	GCACGCCA others(20): Show GCACGCCAGCACACAGCAGCACACAGCA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03209.hp1 HG01081.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0298 a0001c0001t0003g0238 a0001c0001t0003g0298	2	326	0.0061	27	c.130 others(44): Show c.130-6521_130-6520insTGCTGTGTGCTGCTGTGTGCTGGCGTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1016969	C C	CCAGCGCA others(20): Show CCAGCGCACGCCAGCACACGCCAGCGCA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0285	1	326	0.0031	27	c.130 others(44): Show c.130-6827_130-6826insTGCGCTGGCGTGTGCTGGCGTGCGCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1041375	C C	CGGGGAAG others(20): Show CGGGGAAGGGGACCTGGGGTCCGCACTG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	326	0.0031	27	c.130 others(46): Show c.130-31233_130-31232insCAGTGCGGACCCCAGGTCCCCTTCCC C	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf57_chr7_48030543_48066297	48051809	T T	TCCTTCCT others(20): Show TCCTTCCTTCCTTTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0048 a0002c0001t0002g0048	1	404	0.0025	27	c.606 others(42): Show c.606-891_606-890insCCTTCCTTCCTTTTCTCTTCTCTTCTC	C7orf57	ENSG00000164746.14	transcript	ENST00000348904.4	protein_coding	6/8			chr7	TogoVar
C8G_chr9_136940243_136951975	136950236	T T	TGTCCGGG others(20): Show TGTCCGGGAGGCTCCTGCAGGGGACGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	416	0.0024	27	c.34 others(38): Show c.3455_*3456insGTCCGGGAGGCTCCTGCAGGGGACGTG	C8G	ENSG00000176919.13	transcript	ENST00000371634.7	protein_coding		3262		chr9	TogoVar
C8orf34_chr8_68325955_68824023	68505738	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0007 a0004c0018t0007	a0004c0018t0007g0126 a0004c0018t0007g0126	1	128	0.0078	27	c.766 others(46): Show c.766-16042_766-16041insAAAAAAAAAAAAAAAAAAAAAAAAAA A	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf34_chr8_68325955_68824023	68774944	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG03516.hp2 others(1): Show HG02055.hp1 HG02486.hp1 HG03516.hp2 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0017 a0001c0001 a0002c0003 a0004c0017	a0001c0001t0001 a0002c0003t0002 a0002c0003t0005 others(1): Show a0001c0001t0001 a0002c0003t0002 a0002c0003t0005 a0004c0017t0006	a0001c0001t0001g0116 a0002c0003t0002g0109 a0002c0003t0005g0073 others(1): Show a0001c0001t0001g0116 a0002c0003t0002g0109 a0002c0003t0005g0073 a0004c0017t0006g0128	4	128	0.0313	27	c.140 others(46): Show c.1405-1432_1405-1431insAAAAAAAAAAAAAAAAAAAAAAAAAA A	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf34_chr8_68325955_68824023	68794505	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0095 a0002c0013t0001g0095	1	128	0.0078	27	c.154 others(46): Show c.1549+6970_1549+6971insATATATATATATATATATATATATAT T	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf34_chr8_68325955_68824023	68794506	T T	TATATATA others(20): Show TATATATATATATATATATATATATACA	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA21309.hp2 HG01109.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0031 a0002c0003t0001g0087 a0002c0003t0001g0031 a0002c0003t0001g0087	2	128	0.0156	27	c.154 others(46): Show c.1549+6970_1549+6971insATATATATATATATATATATATATAC A	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	12/13			chr8	TogoVar
C9_chr5_39279140_39369495	39282138	T T	TTCTTCTT others(20): Show TTCTTCTTTCTTTCTTTCTTTCTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0001 a0012c0020t0001	a0012c0020t0001g0309 a0012c0020t0001g0309	1	394	0.0025	27	c.30 others(38): Show c.3060_*3061insGAAAGAGAAAGAAAGAAAGAAAGAAGA	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding		2001		chr5	TogoVar
C9_chr5_39279140_39369495	39340347	C C	CCAACAAA others(20): Show CCAACAAATCCACCTTTACCAAAAATAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0324 a0008c0011t0001g0324	1	394	0.0025	27	c.476 others(42): Show c.476+772_476+798dupCTATTTTTGGTAAAGGTGGATTTGTTG	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	4/10			chr5	TogoVar
C9_chr5_39279140_39369495	39340372	T T	TAGCAACA others(20): Show TAGCAACAAACCCACCTTTACCAAAAAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0298 a0002c0002t0001g0298	1	394	0.0025	27	c.476 others(42): Show c.476+773_476+774insGTTTTTGGTAAAGGTGGGTTTGTTGCT	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	4/10			chr5	TogoVar
C9orf152_chr9_110194561_110213159	110198893	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00738.hp1 HG02056.hp2 others(15): Show HG00408.hp2 HG00738.hp1 HG02056.hp2 HG02074.hp2 HG02155.hp2 HG02735.hp2 HG04184.hp1 NA18941.hp1 NA18951.hp2 NA18991.hp2 NA18993.hp1 NA18997.hp1 NA19002.hp1 NA19004.hp2 NA19011.hp1 NA19066.hp1 NA19082.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0040	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0097 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0003g0050 a0001c0001t0014g0014 a0001c0001t0040g0103	18	466	0.0386	27	c.20 others(38): Show c.2054_*2055insTTTTTTTTTTTTTTTTTTTTTTTTTTT	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		667		chr9	TogoVar
C9orf85_chr9_71906639_71978457	71976095	T T	TTCAACAA others(20): Show TTCAACAACAACAACGGAGGAGGAGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	250	0.0040	27	c.32 others(38): Show c.3253_*3254insTCAACAACAACAACGGAGGAGGAGGAA	C9orf85	ENSG00000155621.15	transcript	ENST00000334731.7	protein_coding		2639		chr9	TogoVar
CA10_chr17_51625320_52163714	51831672	G G	GCAGCAGC others(20): Show GCAGCAGCAGCAGCAGCAGCAGCAGCAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG02622.hp1 others(1): Show HG01243.hp2 HG02145.hp1 HG02622.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0001 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0051 a0001c0001t0003g0110 a0001c0001t0003g0114 others(1): Show a0001c0001t0001g0051 a0001c0001t0003g0110 a0001c0001t0003g0114 a0001c0001t0012g0156	4	156	0.0256	27	c.280 others(46): Show c.280-83855_280-83854insATGCTGCTGCTGCTGCTGCTGCTGCT G	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA12_chr15_63316378_63386846	63376557	C C	CCTTTCTT others(20): Show CCTTTCTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0315 a0001c0001t0005g0315	1	356	0.0028	27	c.86- others(40): Show c.86-880_86-879insAAAGAAAGAAAGAAAGAAAGAAGAAAG	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding	1/10			chr15	TogoVar
CA5A_chr16_87883013_87941529	87937799	C C	CTTTCTTT others(20): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 NA19240.hp2 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0046 a0001c0001t0001g0047	2	400	0.0050	27	c.-13 others(38): Show c.-1350_-1349insAAAGAAAGAAAGAAAGAAAGAAAGAAA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		1271		chr16	TogoVar
CA5A_chr16_87883013_87941529	87937800	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02809.hp1 HG02572.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0037 a0001c0001t0001g0048	2	400	0.0050	27	c.-13 others(38): Show c.-1351_-1350insGAAAGAAAGAAAGAAAGAAAGAAAGAA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		1272		chr16	TogoVar
CA6_chr1_8940868_8980092	8977700	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0328 a0001c0006t0001g0328	1	452	0.0022	27	c.29 others(38): Show c.2996_*2997insAAGAAAGAAAGAAAGAAAGAAAGAAAG	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding		2609		chr1	TogoVar
CAB39L_chr13_49303650_49449064	49346120	T T	TATATATA others(20): Show TATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01358.hp2 HG02451.hp1 others(5): Show HG01257.hp1 HG01358.hp2 HG02451.hp1 HG02647.hp2 HG03453.hp1 HG03471.hp1 HG03942.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0136 others(5): Show a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0136 a0001c0001t0001g0234 a0001c0001t0001g0261 a0001c0001t0002g0254 a0001c0001t0003g0026 a0001c0001t0004g0268	8	324	0.0247	27	c.565 others(44): Show c.565-1883_565-1882insGATATATATATATATATATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49441226	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0298 a0001c0001t0004g0298	1	324	0.0031	27	c.-24 others(46): Show c.-246+2759_-246+2760insTATATATATATATATATATATATATA T	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	342	0.0029	27	c.-43 others(46): Show c.-43-11128_-43-11127insTATATATATATATATATATATATATA T	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8			chr2	TogoVar

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