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
CFAP97D2_chr13_114174257_114228085	114178645	A A	AGCAATGT others(4): Show AGCAATGTTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0342 a0001c0001t0006g0342	1	400	0.0025	11	c.-68 others(20): Show c.-686_-685insGCAATGTTGAG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding		611		chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114178820	T T	TGTGAGGA others(4): Show TGTGAGGAGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0342 a0001c0001t0006g0342	1	400	0.0025	11	c.-51 others(20): Show c.-511_-510insGTGAGGAGCAG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding		436		chr13	TogoVar
CFAP99_chr4_2413955_2468002	2440149	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02896.hp1 HG02451.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0049 a0001c0002t0003g0306 a0001c0002t0001g0049 a0001c0002t0003g0306	2	350	0.0057	11	c.351 others(28): Show c.351+1990_351+2000dupTTTTTTTTTTT	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFB_chr6_31941095_31957084	31941814	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG02055.hp2 HG02896.hp2 others(8): Show HG01361.hp2 HG02055.hp2 HG02896.hp2 HG02970.hp2 HG03098.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04228.hp1 NA18939.hp1 NA19006.hp1	a0003 a0003	a0003c0004 a0003c0006 a0003c0004 a0003c0006	a0003c0004t0001 a0003c0006t0001 a0003c0004t0001 a0003c0006t0001	a0003c0004t0001g0004 a0003c0004t0001g0014 a0003c0004t0001g0019 others(1): Show a0003c0004t0001g0004 a0003c0004t0001g0014 a0003c0004t0001g0019 a0003c0006t0001g0008	11	431	0.0255	11	c.-44 others(22): Show c.-4408_-4407insTTTTTTTTTTT	CFB	ENSG00000243649.10	transcript	ENST00000425368.7	protein_coding		4280		chr6	TogoVar
CFDP1_chr16_75288710_75438503	75297195	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	314	0.0032	11	c.810 others(28): Show c.810-3154_810-3153insCACACACACAC	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	6/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75347359	A A	AAAAAGAA others(4): Show AAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01243.hp1 HG01257.hp2 others(2): Show HG00323.hp1 HG01243.hp1 HG01257.hp2 HG02922.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0198 a0001c0001t0001g0235 others(2): Show a0001c0001t0001g0189 a0001c0001t0001g0198 a0001c0001t0001g0235 a0001c0001t0001g0242 a0001c0001t0001g0275	5	314	0.0159	11	c.651 others(30): Show c.651-42178_651-42177insCTTTTTCTTTT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349684	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	314	0.0032	11	c.651 others(30): Show c.651-44503_651-44502insATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFD_chr19_854664_868641	864042	C C	CCCACACA others(4): Show CCCACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	287	0.0035	11	c.80 others(20): Show c.804_*805insCCACACACACA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		402		chr19	TogoVar
CFD_chr19_854664_868641	868340	G G	GGTAGCTG others(4): Show GGTAGCTGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01257.hp2 HG02257.hp1 others(6): Show HG00140.hp2 HG01257.hp2 HG02257.hp1 HG04115.hp2 HG04204.hp1 NA18522.hp1 NA18970.hp1 NA19043.hp1 NA19055.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0040 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0040 a0001c0001t0001g0072 a0002c0002t0001g0009	9	287	0.0314	11	c.51 others(22): Show c.5102_*5103insGTAGCTGAGGA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		4700		chr19	TogoVar
CFHR2_chr1_196938738_196964622	196943180	A A	ATTTCTTT others(4): Show ATTTCTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0101 a0001c0002t0008g0101	1	370	0.0027	11	c.-70 others(20): Show c.-701_-700insTTTCTTTTTTT	CFHR2	ENSG00000080910.14	transcript	ENST00000367415.8	protein_coding		557		chr1	TogoVar
CFHR4_chr1_196883052_196923633	196885619	G G	GAGAGAGA others(4): Show GAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	350	0.0029	11	c.-25 others(22): Show c.-2532_-2531insAGAGAGAGAGA	CFHR4	ENSG00000134365.15	transcript	ENST00000608469.6	protein_coding		2432		chr1	TogoVar
CFH_chr1_196647043_196752504	196658407	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02818.hp2 HG02895.hp1 others(10): Show HG02809.hp2 HG02818.hp2 HG02895.hp1 HG03041.hp1 HG03492.hp2 HG03834.hp1 HG04199.hp2 HG04228.hp2 NA18955.hp1 NA18978.hp2 NA18997.hp1 NA19007.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 others(10): Show a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0291 a0001c0001t0004g0290	13	308	0.0422	11	c.58+ others(26): Show c.58+6244_58+6254dupTTTTTTTTTTT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714701	A A	AGAGAGAG others(4): Show AGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	308	0.0033	11	c.151 others(28): Show c.1519+785_1519+795dupGAGAGAGAGAG	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFI_chr4_109735695_109806999	109752936	A A	ATTTATTA others(4): Show ATTTATTATATG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG00735.hp2 others(81): Show HG00323.hp1 HG00733.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02055.hp1 HG02080.hp1 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02559.hp2 HG02647.hp1 HG02717.hp2 HG02738.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03710.hp1 HG03927.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18969.hp2 NA18972.hp1 NA18978.hp2 NA18984.hp2 NA18991.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19012.hp1 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp1 NA19082.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0006 a0007 a0011	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0004c0005 a0005c0007 a0006c0014 a0007c0010 a0011c0009	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0006t0005 a0001c0008t0001 a0001c0008t0002 a0004c0005t0001 a0005c0007t0001 a0006c0014t0001 a0007c0010t0001 a0011c0009t0001	a0001c0001t0001g0174 a0001c0001t0001g0275 a0001c0001t0001g0276 others(81): Show a0001c0001t0001g0174 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0002t0001g0008 a0001c0002t0001g0022 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0271 a0001c0002t0001g0295 a0001c0002t0002g0012 a0001c0002t0004g0005 a0001c0002t0004g0006 a0001c0002t0004g0007 a0001c0006t0005g0041 a0001c0006t0005g0042 a0001c0008t0001g0293 a0001c0008t0002g0269 a0004c0005t0001g0101 a0004c0005t0001g0102 a0004c0005t0001g0103 a0004c0005t0001g0109 a0005c0007t0001g0069 a0005c0007t0001g0070 a0006c0014t0001g0064 a0007c0010t0001g0062 a0011c0009t0001g0106	84	354	0.2373	11	c.905 others(26): Show c.905-434_905-433insCATATAATAAA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753249	T T	TATATATT others(4): Show TATATATTTATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0293 a0001c0008t0001g0293	1	354	0.0028	11	c.905 others(26): Show c.905-747_905-746insTATAAATATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753279	A A	ATATATAT others(4): Show ATATATATTTAT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	354	0.0028	11	c.905 others(26): Show c.905-787_905-777dupATAAATATATA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753310	A A	ACATATAT others(4): Show ACATATATTTAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	354	0.0028	11	c.905 others(26): Show c.905-808_905-807insATAAATATATG	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753311	T T	TATATATT others(4): Show TATATATTTATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00438.hp1 others(102): Show HG00099.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG02004.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02148.hp2 HG02155.hp2 HG02559.hp2 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02976.hp2 HG03239.hp2 HG03491.hp2 HG03710.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18945.hp1 NA18954.hp1 NA18956.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18975.hp1 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19066.hp1 NA19072.hp2 NA19078.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0003 a0008c0012 a0001c0001 a0002c0003 a0008c0012	a0001c0001t0001 a0002c0003t0001 a0008c0012t0001 a0001c0001t0001 a0002c0003t0001 a0008c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0085 others(100): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0085 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0110 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0291 a0001c0001t0001g0305 a0001c0001t0001g0313 a0001c0001t0001g0323 a0002c0003t0001g0306 a0002c0003t0001g0307 a0002c0003t0001g0309 a0002c0003t0001g0310 a0002c0003t0001g0311 a0002c0003t0001g0315 a0002c0003t0001g0318 a0002c0003t0001g0322 a0002c0003t0001g0325 a0008c0012t0001g0189	105	354	0.2966	11	c.905 others(26): Show c.905-809_905-808insTATAAATATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753338	A A	ATATATAT others(4): Show ATATATATTTAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00733.hp1 others(67): Show HG00323.hp1 HG00558.hp1 HG00733.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02080.hp1 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02300.hp2 HG02717.hp2 HG02738.hp2 HG03710.hp1 HG03927.hp1 NA18747.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18969.hp2 NA18972.hp1 NA18980.hp2 NA18984.hp2 NA18991.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19012.hp1 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19070.hp2 NA19072.hp1 NA19082.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0006 a0007 a0011	a0001c0002 a0004c0005 a0005c0007 others(3): Show a0001c0002 a0004c0005 a0005c0007 a0006c0014 a0007c0010 a0011c0009	a0001c0002t0001 a0001c0002t0004 a0004c0005t0001 others(4): Show a0001c0002t0001 a0001c0002t0004 a0004c0005t0001 a0005c0007t0001 a0006c0014t0001 a0007c0010t0001 a0011c0009t0001	a0001c0002t0001g0001 a0001c0002t0001g0008 a0001c0002t0001g0036 others(66): Show a0001c0002t0001g0001 a0001c0002t0001g0008 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0173 a0001c0002t0001g0271 a0001c0002t0001g0273 a0001c0002t0001g0295 a0001c0002t0004g0005 a0001c0002t0004g0006 a0001c0002t0004g0007 a0004c0005t0001g0101 a0004c0005t0001g0102 a0004c0005t0001g0103 a0004c0005t0001g0109 a0005c0007t0001g0069 a0005c0007t0001g0070 a0006c0014t0001g0064 a0007c0010t0001g0062 a0011c0009t0001g0106	70	354	0.1977	11	c.905 others(26): Show c.905-846_905-836dupATAAATATATA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753339	T T	TATATATT others(4): Show TATATATTTATA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	354	0.0028	11	c.905 others(26): Show c.905-837_905-836insTATAAATATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753370	T T	TATATATT others(4): Show TATATATTTATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0148	1	354	0.0028	11	c.905 others(26): Show c.905-868_905-867insTATAAATATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753397	A A	ATATATAT others(4): Show ATATATATTTAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	354	0.0028	11	c.905 others(26): Show c.905-905_905-895dupATAAATATATA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753573	T T	TATATATT others(4): Show TATATATTTATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02809.hp1 HG03486.hp2 others(2): Show HG02280.hp2 HG02809.hp1 HG03486.hp2 HG03540.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0018 a0001c0002t0001g0054 a0001c0002t0001g0120 others(2): Show a0001c0001t0001g0018 a0001c0002t0001g0054 a0001c0002t0001g0120 a0001c0002t0001g0136 a0001c0002t0003g0296	5	354	0.0141	11	c.905 others(28): Show c.905-1071_905-1070insTATAAATATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109756888	G G	GGAAAGAA others(4): Show GGAAAGAAGAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	354	0.0028	11	c.904 others(26): Show c.904+874_904+875insTTTCTTCTTTC	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFLAR_chr2_201111164_201181687	201114046	A A	ATATATAT others(4): Show ATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	234	0.0043	11	c.-25 others(22): Show c.-2573_-2572insTATATATATAT	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding		2117		chr2	TogoVar
CFLAR_chr2_201111164_201181687	201114047	T T	TATATATA others(4): Show TATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03831.hp2 HG03471.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0132 a0001c0001t0001 a0001c0001t0132	a0001c0001t0001g0137 a0001c0001t0132g0062 a0001c0001t0001g0137 a0001c0001t0132g0062	2	234	0.0086	11	c.-25 others(22): Show c.-2572_-2571insATATATATATA	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding		2116		chr2	TogoVar
CFTR_chr7_117475025_117673665	117559705	C C	CTACCCAA others(4): Show CTACCCAAATTA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0140 a0001c0004t0002g0140	1	202	0.0050	11	c.158 others(26): Show c.1584+53_1584+63dupCCCAAATTATA	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CGAS_chr6_73418711_73457297	73449509	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0235 a0002c0001t0001g0235	1	410	0.0024	11	c.657 others(28): Show c.657+2015_657+2016insGTGTGTGTGTG	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding	1/4			chr6	TogoVar
CGAS_chr6_73418711_73457297	73453568	C C	CTTTCTTT others(4): Show CTTTCTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0032 a0003c0004t0032	a0003c0004t0032g0351 a0003c0004t0032g0351	1	410	0.0024	11	c.-13 others(22): Show c.-1388_-1387insAAAAAAAGAAA	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding		1272		chr6	TogoVar
CGAS_chr6_73418711_73457297	73453568	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00673.hp1 HG02055.hp2 others(5): Show HG00099.hp2 HG00673.hp1 HG02055.hp2 HG02145.hp2 HG02895.hp1 NA19091.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0001 a0002c0005 a0003c0004 others(1): Show a0002c0001 a0002c0005 a0003c0004 a0005c0011	a0002c0001t0001 a0002c0001t0005 a0002c0005t0006 others(4): Show a0002c0001t0001 a0002c0001t0005 a0002c0005t0006 a0003c0004t0001 a0003c0004t0070 a0003c0004t0071 a0005c0011t0062	a0002c0001t0001g0029 a0002c0001t0005g0198 a0002c0005t0006g0195 others(5): Show a0002c0001t0001g0029 a0002c0001t0005g0198 a0002c0005t0006g0195 a0003c0004t0001g0347 a0003c0004t0001g0348 a0003c0004t0070g0345 a0003c0004t0071g0349 a0005c0011t0062g0102	8	410	0.0195	11	c.-13 others(22): Show c.-1388_-1387insAAAAAAAAAAA	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding		1272		chr6	TogoVar
CGA_chr6_87080498_87100106	87083744	C C	CTTTTGAG others(4): Show CTTTTGAGTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	420	0.0024	11	c.20 others(22): Show c.2011_*2012insATCACTCAAAA	CGA	ENSG00000135346.9	transcript	ENST00000627148.3	protein_coding		1753		chr6	TogoVar
CGB7_chr19_49049274_49062749	49060036	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03209.hp2 HG01891.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0009 a0001c0001t0007g0009	2	422	0.0047	11	c.-39 others(22): Show c.-3924_-3923insTTTTTTTTTTT	CGB7	ENSG00000196337.14	transcript	ENST00000684222.1	protein_coding		2288		chr19	TogoVar
CGGBP1_chr3_88046950_88064005	88050344	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02004.hp1 HG02055.hp2 others(8): Show HG00639.hp1 HG02004.hp1 HG02055.hp2 HG02647.hp1 HG03486.hp2 HG03831.hp1 NA18940.hp1 NA18953.hp2 NA18961.hp1 NA19054.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0018 a0001c0001t0001 a0001c0001t0010 a0001c0001t0018	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0010g0015 a0001c0001t0018g0024	11	358	0.0307	11	c.51 others(22): Show c.5128_*5129insAAAAAAAAAAA	CGGBP1	ENSG00000163320.12	transcript	ENST00000482016.6	protein_coding		1605		chr3	TogoVar
CGNL1_chr15_57371505_57555717	57383292	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03471.hp2 HG02109.hp2 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0003c0003t0001 a0001c0001t0004 a0003c0003t0001	a0001c0001t0004g0124 a0003c0003t0001g0162 a0001c0001t0004g0124 a0003c0003t0001g0162	2	294	0.0068	11	c.-16 others(28): Show c.-16+6728_-16+6738dupTTTTTTTTTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57383298	T T	TTTTTTTT others(4): Show TTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00621.hp2 others(69): Show HG00280.hp2 HG00438.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00741.hp1 HG01109.hp1 HG01123.hp2 HG01256.hp2 HG01346.hp2 HG01358.hp1 HG01993.hp2 HG02027.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03453.hp2 HG03486.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18941.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18984.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19011.hp1 NA19060.hp1 NA19060.hp2 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19240.hp1 NA20905.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0017 a0021 a0024	a0001c0001 a0001c0005 a0001c0011 others(16): Show a0001c0001 a0001c0005 a0001c0011 a0002c0002 a0002c0038 a0002c0040 a0003c0003 a0003c0032 a0004c0004 a0005c0006 a0006c0007 a0007c0009 a0008c0010 a0009c0014 a0010c0013 a0012c0019 a0017c0031 a0021c0028 a0024c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0005t0001 a0001c0005t0002 a0001c0011t0002 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0038t0012 a0002c0040t0003 a0003c0003t0002 a0003c0003t0004 a0003c0003t0015 a0003c0032t0002 a0004c0004t0001 a0004c0004t0004 a0005c0006t0003 a0005c0006t0038 a0006c0007t0005 a0007c0009t0002 a0007c0009t0003 a0008c0010t0005 a0008c0010t0028 a0009c0014t0006 a0010c0013t0023 a0012c0019t0006 a0017c0031t0004 a0021c0028t0006 a0024c0024t0002	a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0065 others(69): Show a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0132 a0001c0001t0002g0042 a0001c0001t0002g0060 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0002g0244 a0001c0001t0004g0043 a0001c0001t0004g0057 a0001c0001t0004g0063 a0001c0001t0004g0083 a0001c0001t0004g0085 a0001c0001t0004g0120 a0001c0001t0010g0054 a0001c0001t0011g0106 a0001c0005t0001g0053 a0001c0005t0001g0097 a0001c0005t0002g0062 a0001c0011t0002g0084 a0001c0011t0002g0103 a0001c0011t0002g0110 a0002c0002t0002g0093 a0002c0002t0003g0041 a0002c0002t0003g0068 a0002c0002t0003g0081 a0002c0002t0003g0117 a0002c0002t0003g0119 a0002c0002t0007g0055 a0002c0002t0007g0099 a0002c0002t0007g0259 a0002c0038t0012g0123 a0002c0040t0003g0069 a0003c0003t0002g0064 a0003c0003t0004g0086 a0003c0003t0015g0072 a0003c0032t0002g0074 a0004c0004t0001g0061 a0004c0004t0001g0088 a0004c0004t0001g0115 a0004c0004t0004g0077 a0005c0006t0003g0002 a0005c0006t0003g0075 a0005c0006t0038g0095 a0006c0007t0005g0056 a0006c0007t0005g0098 a0007c0009t0002g0089 a0007c0009t0003g0076 a0008c0010t0005g0094 a0008c0010t0005g0276 a0008c0010t0028g0052 a0009c0014t0006g0050 a0010c0013t0023g0051 a0012c0019t0006g0036 a0017c0031t0004g0101 a0021c0028t0006g0066 a0024c0024t0002g0111	72	294	0.2449	11	c.-16 others(28): Show c.-16+6738_-16+6739insTTTGTTTTTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57394101	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02965.hp2 HG03130.hp1 others(3): Show HG02630.hp1 HG02965.hp2 HG03130.hp1 HG03239.hp2 NA20129.hp1 NA20300.hp2	a0002 a0005 a0006 others(1): Show a0002 a0005 a0006 a0013	a0002c0002 a0005c0006 a0006c0007 others(1): Show a0002c0002 a0005c0006 a0006c0007 a0013c0018	a0002c0002t0003 a0002c0002t0008 a0002c0002t0042 others(3): Show a0002c0002t0003 a0002c0002t0008 a0002c0002t0042 a0005c0006t0036 a0006c0007t0005 a0013c0018t0006	a0002c0002t0003g0031 a0002c0002t0008g0030 a0002c0002t0042g0005 others(3): Show a0002c0002t0003g0031 a0002c0002t0008g0030 a0002c0002t0042g0005 a0005c0006t0036g0026 a0006c0007t0005g0027 a0013c0018t0006g0025	6	294	0.0204	11	c.-16 others(30): Show c.-16+17537_-16+17538insTTTTTTTTTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57409041	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0265 a0002c0002t0003g0265	1	294	0.0034	11	c.-15 others(30): Show c.-15-28943_-15-28933dupCACACACACAC	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57442182	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01934.hp1 HG02717.hp1 others(5): Show HG00741.hp1 HG01934.hp1 HG02717.hp1 HG03017.hp2 NA18953.hp2 NA18971.hp1 NA18994.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0002c0002t0014	a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0080 others(5): Show a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0002g0105 a0002c0002t0003g0241 a0002c0002t0014g0121	8	294	0.0272	11	c.169 others(28): Show c.1698-180_1698-170dupAAAAAAAAAAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57498245	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18951.hp2 HG00438.hp1 NA18951.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0003 a0001c0001t0001 a0005c0006t0003	a0001c0001t0001g0087 a0005c0006t0003g0176 a0001c0001t0001g0087 a0005c0006t0003g0176	2	294	0.0068	11	c.240 others(32): Show c.2404-18525_2404-18515dupTTTTTTTTTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57529559	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18974.hp2 NA18964.hp2 NA18974.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0230 a0001c0005t0004g0250 a0001c0005t0004g0230 a0001c0005t0004g0250	2	294	0.0068	11	c.320 others(28): Show c.3201+744_3201+745insCACACACACAC	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	13/18			chr15	TogoVar
CGN_chr1_151506387_151543692	151527950	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA19057.hp1 NA18960.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0086 a0001c0001t0001g0061 a0001c0001t0001g0086	2	382	0.0052	11	c.189 others(28): Show c.1896+844_1896+845insATATATTTTTT	CGN	ENSG00000143375.15	transcript	ENST00000271636.12	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CGN_chr1_151506387_151543692	151527950	A A	ATATATTT others(4): Show ATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18997.hp1 NA18992.hp2 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0092 a0001c0001t0001g0080 a0001c0001t0001g0092	2	382	0.0052	11	c.189 others(28): Show c.1896+844_1896+845insATATTTTTTTT	CGN	ENSG00000143375.15	transcript	ENST00000271636.12	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(4): Show CTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0127 a0001c0002t0002g0127	1	352	0.0028	11	c.-12 others(28): Show c.-12+1922_-12+1923insAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHADL_chr22_41224513_41245931	41234395	A A	ATTATTAT others(4): Show ATTATTATTATT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	414	0.0024	11	c.226 others(28): Show c.2262+749_2262+750insAATAATAATAA	CHADL	ENSG00000100399.16	transcript	ENST00000216241.14	protein_coding	5/5			chr22	TogoVar
CHAF1A_chr19_4397640_4448397	4401608	A A	AAGGAAGG others(4): Show AAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0230 a0001c0021t0001g0230	1	384	0.0026	11	c.-11 others(22): Show c.-1155_-1154insAGGAAGGAAGG	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding		1031		chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4408461	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp1 HG01106.hp1 others(31): Show HG00099.hp1 HG01069.hp1 HG01106.hp1 HG01192.hp1 HG01258.hp1 HG01358.hp2 HG01496.hp2 HG01516.hp1 HG01952.hp2 HG02071.hp2 HG02148.hp2 HG02451.hp1 HG02683.hp2 HG02895.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03516.hp1 HG03669.hp1 HG04184.hp1 NA18942.hp1 NA18959.hp2 NA18964.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18978.hp2 NA18981.hp1 NA18985.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19058.hp2 NA19082.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0016	a0001c0001 a0001c0007 a0001c0020 others(3): Show a0001c0001 a0001c0007 a0001c0020 a0002c0002 a0005c0006 a0016c0025	a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 a0001c0020t0001 a0002c0002t0002 a0005c0006t0002 a0016c0025t0002	a0001c0001t0001g0008 a0001c0001t0001g0121 a0001c0001t0001g0143 others(30): Show a0001c0001t0001g0008 a0001c0001t0001g0121 a0001c0001t0001g0143 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0003g0330 a0001c0007t0001g0187 a0001c0020t0001g0136 a0002c0002t0002g0082 a0005c0006t0002g0356 a0016c0025t0002g0333	34	384	0.0885	11	c.104 others(26): Show c.104-422_104-412dupTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4411644	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0066 a0002c0002t0002g0066	1	384	0.0026	11	c.960 others(28): Show c.960+1896_960+1906dupTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4427136	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp1 HG01943.hp2 others(19): Show HG01106.hp1 HG01243.hp1 HG01943.hp2 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02622.hp2 HG02965.hp1 HG03041.hp2 NA18942.hp1 NA18942.hp2 NA18968.hp2 NA18971.hp1 NA18981.hp1 NA18983.hp2 NA18993.hp2 NA19006.hp2 NA19012.hp2 NA19030.hp1 NA19086.hp1 NA21309.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0007 a0008c0009 a0001c0001 a0001c0007 a0008c0009	a0001c0001t0001 a0001c0007t0001 a0008c0009t0001 a0001c0001t0001 a0001c0007t0001 a0008c0009t0001	a0001c0001t0001g0123 a0001c0001t0001g0149 a0001c0001t0001g0154 others(19): Show a0001c0001t0001g0123 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0168 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0007t0001g0124 a0001c0007t0001g0173 a0008c0009t0001g0159	22	384	0.0573	11	c.137 others(30): Show c.1378-1507_1378-1497dupTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAT_chr10_49609037_49672942	49648856	A A	AGGAATTC others(4): Show AGGAATTCTCAG	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0005 a0003c0006t0005	a0003c0006t0005g0149 a0003c0006t0005g0149	1	418	0.0024	11	c.138 others(28): Show c.1382+251_1382+261dupGAATTCTCAGG	CHAT	ENSG00000070748.19	transcript	ENST00000337653.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
CHCHD3_chr7_132779870_133087090	132781412	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	310	0.0032	11	c.42 others(22): Show c.4224_*4225insTTTTTTTTTTT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding		3457		chr7	TogoVar

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