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
CFAP95_chr9_69815817_69911227	69843502	C C	CCCTCCTC others(8): Show CCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0345 a0001c0001t0001g0345	1	380	0.0026	15	c.153 others(32): Show c.153-1013_153-1012insTCCTCCTCCTCCTCC	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843505	C C	CCCTCCTC others(8): Show CCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02293.hp2 HG02965.hp1 others(1): Show HG01169.hp1 HG02293.hp2 HG02965.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0222 a0001c0002t0001g0303 a0001c0002t0001g0309 others(1): Show a0001c0001t0001g0222 a0001c0002t0001g0303 a0001c0002t0001g0309 a0001c0002t0001g0310	4	380	0.0105	15	c.153 others(30): Show c.153-972_153-958dupCCTCCTCCTCCTCCT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843557	C C	CCTCCTTC others(8): Show CCTCCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	380	0.0026	15	c.153 others(30): Show c.153-958_153-957insCCTTCTTCTTCTTCT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843557	C C	CCTTCTTC others(8): Show CCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	380	0.0026	15	c.153 others(30): Show c.153-901_153-887dupTTCTTCTTCTTCTTC	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP97D1_chr17_43775435_43792620	43786955	C C	CATTATTA others(8): Show CATTATTATTATTATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00733.hp2 HG01167.hp1 others(5): Show HG00140.hp1 HG00733.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG03486.hp1 HG06807.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0022 a0001c0002t0046 a0001c0001t0011 a0001c0002t0022 a0001c0002t0046	a0001c0001t0011g0002 a0001c0001t0011g0017 a0001c0002t0022g0007 others(1): Show a0001c0001t0011g0002 a0001c0001t0011g0017 a0001c0002t0022g0007 a0001c0002t0046g0007	8	402	0.0199	15	c.25 others(26): Show c.2586_*2600dupATTATTATTATTATT	CFAP97D1	ENSG00000231256.8	transcript	ENST00000449302.8	protein_coding	6/6	3090	INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP97D2_chr13_114174257_114228085	114176939	C C	CTGGGACT others(8): Show CTGGGACTCCTTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01361.hp2 HG01993.hp1 others(12): Show HG00642.hp2 HG01361.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02273.hp1 HG02273.hp2 HG03834.hp1 NA18954.hp1 NA18992.hp2 NA18999.hp2 NA19063.hp1 NA19074.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0033 a0001c0001t0006g0340 others(9): Show a0001c0001t0006g0010 a0001c0001t0006g0033 a0001c0001t0006g0340 a0001c0001t0006g0341 a0001c0001t0006g0342 a0001c0001t0006g0343 a0001c0001t0006g0344 a0001c0001t0006g0345 a0001c0001t0006g0346 a0001c0001t0006g0347 a0001c0001t0006g0348 a0001c0001t0006g0349	15	400	0.0375	15	c.-23 others(26): Show c.-2392_-2391insTGGGACTCCTTCCCT	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding		2317		chr13	TogoVar
CFAP97_chr4_185154665_185209000	185192733	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0055 a0001c0004t0013g0055	1	350	0.0029	15	c.-16 others(32): Show c.-16-1536_-16-1522dupAAAAAAAAAAAAAAA	CFAP97	ENSG00000164323.15	transcript	ENST00000458385.7	protein_coding	1/4			chr4	TogoVar
CFAP97_chr4_185154665_185209000	185198789	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp2 HG02080.hp1 others(3): Show HG00642.hp2 HG01109.hp2 HG02080.hp1 HG03654.hp1 NA18972.hp1 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0018 a0002c0002t0001 a0002c0002t0018	a0002c0002t0001g0191 a0002c0002t0001g0216 a0002c0002t0001g0217 others(3): Show a0002c0002t0001g0191 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0018g0276	6	350	0.0171	15	c.-17 others(32): Show c.-17+5108_-17+5109insTTTTTTTTTTTTTTT	CFAP97	ENSG00000164323.15	transcript	ENST00000458385.7	protein_coding	1/4			chr4	TogoVar
CFAP99_chr4_2413955_2468002	2426663	A A	ATGCCTTC others(8): Show ATGCCTTCCTAACGAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02451.hp2 others(5): Show HG02055.hp2 HG02145.hp1 HG02451.hp2 HG02615.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0006t0001 a0001c0003t0001 a0001c0006t0001	a0001c0003t0001g0016 a0001c0003t0001g0021 a0001c0003t0001g0126 others(3): Show a0001c0003t0001g0016 a0001c0003t0001g0021 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0129 a0001c0006t0001g0128	8	350	0.0229	15	c.111 others(29): Show c.111+87_111+101dupAACGACTGCCTTCCT	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP99_chr4_2413955_2468002	2440149	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02257.hp2 HG02280.hp2 others(7): Show HG00673.hp1 HG02257.hp2 HG02280.hp2 HG02647.hp2 HG03098.hp1 HG03225.hp1 NA18522.hp2 NA18984.hp1 NA19043.hp2 NA19074.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0001c0006 others(4): Show a0001c0002 a0001c0004 a0001c0006 a0001c0015 a0002c0005 a0003c0007 a0003c0010	a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 others(5): Show a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 a0001c0006t0002 a0001c0015t0001 a0002c0005t0002 a0003c0007t0001 a0003c0010t0001	a0001c0002t0001g0066 a0001c0004t0001g0178 a0001c0004t0002g0043 others(7): Show a0001c0002t0001g0066 a0001c0004t0001g0178 a0001c0004t0002g0043 a0001c0004t0002g0044 a0001c0006t0002g0038 a0001c0006t0002g0042 a0001c0015t0001g0285 a0002c0005t0002g0037 a0003c0007t0001g0065 a0003c0010t0001g0064	10	350	0.0286	15	c.351 others(32): Show c.351+1986_351+2000dupTTTTTTTTTTTTTTT	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(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	431	0.0023	15	c.-44 others(26): Show c.-4408_-4407insTTTTTTTTTTTTTTT	CFB	ENSG00000243649.10	transcript	ENST00000425368.7	protein_coding		4280		chr6	TogoVar
CFC1_chr2_130587165_130604575	130603723	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG02622.hp2 HG01257.hp2 HG02622.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0005 a0004c0007t0005	a0004c0007t0005g0017 a0004c0007t0005g0017	2	242	0.0083	15	c.-44 others(26): Show c.-4437_-4436insTTTTTTTTTTTTTTT	CFC1	ENSG00000136698.10	transcript	ENST00000259216.6	protein_coding		4149		chr2	TogoVar
CFDP1_chr16_75288710_75438503	75349674	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	314	0.0032	15	c.651 others(34): Show c.651-44493_651-44492insATATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349678	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19084.hp2 NA18970.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0243 a0001c0001t0001g0219 a0001c0001t0001g0243	2	314	0.0064	15	c.651 others(34): Show c.651-44497_651-44496insATATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349680	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02132.hp1 HG02647.hp2 others(5): Show HG01256.hp1 HG02132.hp1 HG02647.hp2 HG02683.hp1 HG02922.hp2 NA18951.hp2 NA18984.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0149 a0001c0001t0001g0189 a0001c0001t0001g0207 others(5): Show a0001c0001t0001g0149 a0001c0001t0001g0189 a0001c0001t0001g0207 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0254 a0001c0001t0001g0270 a0001c0001t0002g0164	8	314	0.0255	15	c.651 others(34): Show c.651-44499_651-44498insATATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349684	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	314	0.0032	15	c.651 others(34): Show c.651-44503_651-44502insATATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349686	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02145.hp1 HG03831.hp2 others(1): Show HG00280.hp1 HG02145.hp1 HG03831.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0114 a0001c0001t0002g0162 a0001c0001t0002g0177 others(1): Show a0001c0001t0001g0114 a0001c0001t0002g0162 a0001c0001t0002g0177 a0001c0001t0002g0184	4	314	0.0127	15	c.651 others(34): Show c.651-44505_651-44504insATATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75363942	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0179 a0002c0003t0002g0179	1	314	0.0032	15	c.650 others(34): Show c.650+31147_650+31148insGTGTGTGTGTGTGTG	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFHR4_chr1_196883052_196923633	196885619	G G	GAGAGAGA others(8): Show GAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	350	0.0029	15	c.-25 others(26): Show c.-2532_-2531insAGAGAGAGAGAGAGA	CFHR4	ENSG00000134365.15	transcript	ENST00000608469.6	protein_coding		2432		chr1	TogoVar
CFHR4_chr1_196883052_196923633	196894889	A A	AAACAACA others(8): Show AAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	350	0.0029	15	c.58+ others(30): Show c.58+6687_58+6701dupCAACAACAACAACAA	CFHR4	ENSG00000134365.15	transcript	ENST00000608469.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFHR4_chr1_196883052_196923633	196915819	G G	GTTTTGTG others(8): Show GTTTTGTGGTTTGGGT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0080	1	350	0.0029	15	c.154 others(32): Show c.1540+682_1540+683insTTTGTGGTTTGGGTT	CFHR4	ENSG00000134365.15	transcript	ENST00000608469.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196658407	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01168.hp1 HG01255.hp2 others(5): Show HG00558.hp2 HG01168.hp1 HG01255.hp2 HG01975.hp2 HG02698.hp2 NA18951.hp1 NA19002.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0198 a0001c0001t0001g0199 others(5): Show a0001c0001t0001g0039 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204	8	308	0.0260	15	c.58+ others(30): Show c.58+6240_58+6254dupTTTTTTTTTTTTTTT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFI_chr4_109735695_109806999	109753324	T T	TATATTTA others(8): Show TATATTTATTATATAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01081.hp2 NA18983.hp1 others(4): Show HG00280.hp1 HG01081.hp2 NA18983.hp1 NA18986.hp2 NA19064.hp1 NA19065.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0201 others(4): Show a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0258 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0326	7	354	0.0198	15	c.905 others(30): Show c.905-822_905-821insTTATATAATAAATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753405	T T	TTATTATA others(8): Show TTATTATATAAATAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03540.hp1 HG02280.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0136 a0001c0002t0001g0054 a0001c0002t0001g0136	2	354	0.0057	15	c.905 others(30): Show c.905-917_905-903dupTTTATTTATATAATA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109756888	G G	GGAAAGAA others(8): Show GGAAAGAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	354	0.0028	15	c.904 others(30): Show c.904+874_904+875insTTTCTTTCTTCTTTC	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFLAR_chr2_201111164_201181687	201134640	T T	TTAAAATA others(8): Show TTAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01169.hp1 others(4): Show HG01069.hp2 HG01071.hp1 HG01169.hp1 HG02027.hp2 HG02922.hp2 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0012 a0001c0002t0046 others(3): Show a0001c0002t0008 a0001c0002t0012 a0001c0002t0046 a0001c0002t0115 a0001c0002t0123 a0001c0002t0125	a0001c0002t0008g0023 a0001c0002t0008g0026 a0001c0002t0012g0031 others(4): Show a0001c0002t0008g0023 a0001c0002t0008g0026 a0001c0002t0012g0031 a0001c0002t0046g0018 a0001c0002t0115g0200 a0001c0002t0123g0033 a0001c0002t0125g0041	7	234	0.0299	15	c.388 others(32): Show c.388-1301_388-1287dupTAAAATAAAATAAAA	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CFLAR_chr2_201111164_201181687	201134669	A A	AATAAAAT others(8): Show AATAAAATAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0173 a0001c0002t0043g0173	1	234	0.0043	15	c.388 others(32): Show c.388-1292_388-1291insAAATATAAAATAAAA	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CFLAR_chr2_201111164_201181687	201158849	C C	CATTATTA others(8): Show CATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18906.hp1 HG00558.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0113 a0001c0002t0115 a0001c0002t0113 a0001c0002t0115	a0001c0002t0113g0069 a0001c0002t0115g0200 a0001c0002t0113g0069 a0001c0002t0115g0200	2	234	0.0086	15	c.794 others(32): Show c.794-1581_794-1580insTATTATTATTATTAT	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CFTR_chr7_117475025_117673665	117499462	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp2 HG01433.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0003 a0001c0004t0002g0128 a0001c0001t0002g0003 a0001c0004t0002g0128	2	202	0.0099	15	c.54- others(30): Show c.54-4791_54-4790insGTGTGTGTGTGTGTG	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	1/26			chr7	TogoVar
CGAS_chr6_73418711_73457297	73426349	G G	GAAATGAA others(8): Show GAAATGAAATGATAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00733.hp1 HG00735.hp2 others(93): Show HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02109.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG06807.hp1 NA18939.hp1 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18964.hp2 NA18966.hp2 NA18970.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18989.hp2 NA18991.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19063.hp2 NA19066.hp1 NA19067.hp1 NA19072.hp1 NA19074.hp2 NA19077.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0008	a0001c0002 a0001c0003 a0001c0016 others(6): Show a0001c0002 a0001c0003 a0001c0016 a0002c0001 a0002c0005 a0003c0007 a0005c0011 a0007c0018 a0008c0017	a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 others(25): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0002t0018 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0002t0033 a0001c0002t0042 a0001c0002t0043 a0001c0002t0044 a0001c0002t0045 a0001c0002t0050 a0001c0002t0051 a0001c0002t0053 a0001c0003t0009 a0001c0016t0026 a0002c0001t0009 a0002c0001t0057 a0002c0005t0002 a0002c0005t0006 a0002c0005t0018 a0003c0007t0006 a0003c0007t0029 a0003c0007t0049 a0005c0011t0062 a0007c0018t0006 a0008c0017t0009	a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0024 others(81): Show a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0024 a0001c0002t0002g0205 a0001c0002t0002g0210 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0221 a0001c0002t0002g0233 a0001c0002t0002g0280 a0001c0002t0002g0306 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0006g0010 a0001c0002t0006g0117 a0001c0002t0006g0119 a0001c0002t0006g0120 a0001c0002t0006g0122 a0001c0002t0006g0124 a0001c0002t0006g0224 a0001c0002t0006g0313 a0001c0002t0006g0316 a0001c0002t0007g0015 a0001c0002t0007g0049 a0001c0002t0007g0050 a0001c0002t0007g0051 a0001c0002t0007g0060 a0001c0002t0007g0063 a0001c0002t0007g0065 a0001c0002t0007g0069 a0001c0002t0007g0070 a0001c0002t0007g0073 a0001c0002t0007g0075 a0001c0002t0007g0077 a0001c0002t0007g0078 a0001c0002t0007g0079 a0001c0002t0007g0081 a0001c0002t0007g0082 a0001c0002t0018g0223 a0001c0002t0018g0229 a0001c0002t0024g0084 a0001c0002t0024g0099 a0001c0002t0025g0207 a0001c0002t0025g0222 a0001c0002t0026g0214 a0001c0002t0033g0085 a0001c0002t0042g0066 a0001c0002t0043g0067 a0001c0002t0044g0076 a0001c0002t0045g0098 a0001c0002t0050g0227 a0001c0002t0051g0215 a0001c0002t0053g0125 a0001c0003t0009g0274 a0001c0016t0026g0107 a0002c0001t0009g0171 a0002c0001t0009g0175 a0002c0001t0009g0179 a0002c0001t0009g0180 a0002c0001t0009g0181 a0002c0001t0009g0182 a0002c0001t0009g0200 a0002c0001t0009g0202 a0002c0001t0057g0188 a0002c0005t0002g0153 a0002c0005t0002g0241 a0002c0005t0002g0246 a0002c0005t0002g0266 a0002c0005t0002g0267 a0002c0005t0006g0136 a0002c0005t0006g0193 a0002c0005t0006g0195 a0002c0005t0006g0234 a0002c0005t0006g0248 a0002c0005t0018g0250 a0003c0007t0006g0326 a0003c0007t0006g0330 a0003c0007t0029g0358 a0003c0007t0029g0360 a0003c0007t0049g0101 a0005c0011t0062g0102 a0007c0018t0006g0249 a0008c0017t0009g0201	96	410	0.2342	15	c.121 others(32): Show c.1218-772_1218-771insTTTATCATTTCATTT	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding	4/4			chr6	TogoVar
CGAS_chr6_73418711_73457297	73426349	G G	GATAAAAT others(8): Show GATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0034 a0001c0002t0039g0034	1	410	0.0024	15	c.121 others(32): Show c.1218-786_1218-772dupTTTATTTTATTTTAT	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding	4/4			chr6	TogoVar
CGAS_chr6_73418711_73457297	73453568	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 NA20129.hp2 HG03041.hp2 NA20129.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0004 a0002c0001 a0003c0004	a0002c0001t0001 a0003c0004t0056 a0002c0001t0001 a0003c0004t0056	a0002c0001t0001g0007 a0003c0004t0056g0353 a0002c0001t0001g0007 a0003c0004t0056g0353	2	410	0.0049	15	c.-13 others(26): Show c.-1388_-1387insAAAAAAAAAAAAAAA	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding		1272		chr6	TogoVar
CGB1_chr19_49030569_49041895	49035137	A A	ATATTATT others(8): Show ATATTATTATTATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	376	0.0027	15	c.47 others(24): Show c.472_*473insATAATAATAATAATA	CGB1	ENSG00000267631.5	transcript	ENST00000301407.8	protein_coding		431		chr19	TogoVar
CGGBP1_chr3_88046950_88064005	88050344	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	358	0.0028	15	c.51 others(26): Show c.5128_*5129insAAAAAAAAAAAAAAA	CGGBP1	ENSG00000163320.12	transcript	ENST00000482016.6	protein_coding		1605		chr3	TogoVar
CGNL1_chr15_57371505_57555717	57383292	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03130.hp2 HG03540.hp2 others(1): Show HG02976.hp2 HG03130.hp2 HG03540.hp2 NA18992.hp1	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0002c0002 a0013c0018 a0001c0001 a0002c0002 a0013c0018	a0001c0001t0001 a0002c0002t0003 a0002c0002t0008 others(1): Show a0001c0001t0001 a0002c0002t0003 a0002c0002t0008 a0013c0018t0031	a0001c0001t0001g0272 a0002c0002t0003g0270 a0002c0002t0008g0273 others(1): Show a0001c0001t0001g0272 a0002c0002t0003g0270 a0002c0002t0008g0273 a0013c0018t0031g0264	4	294	0.0136	15	c.-16 others(32): Show c.-16+6738_-16+6739insTTTTTTTTTTTTTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57383595	C C	CCTTTTCT others(8): Show CCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0135 a0004c0004t0004g0135	1	294	0.0034	15	c.-16 others(32): Show c.-16+7054_-16+7068dupCTTTTCTTTTCTTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57414661	A A	AAACAACA others(8): Show AAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG04199.hp1 HG04204.hp2 HG03688.hp2 HG04199.hp1 HG04204.hp2	a0001 a0021 a0001 a0021	a0001c0001 a0021c0028 a0001c0001 a0021c0028	a0001c0001t0002 a0021c0028t0006 a0001c0001t0002 a0021c0028t0006	a0001c0001t0002g0067 a0001c0001t0002g0244 a0021c0028t0006g0066 a0001c0001t0002g0067 a0001c0001t0002g0244 a0021c0028t0006g0066	3	294	0.0102	15	c.-15 others(34): Show c.-15-23318_-15-23304dupCAACAACAACAACAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57437619	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	294	0.0034	15	c.-15 others(30): Show c.-15-350_-15-336dupAAAAAAAAAAAAAAA	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(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0037 a0002c0002t0037	a0002c0002t0037g0161 a0002c0002t0037g0161	1	294	0.0034	15	c.169 others(32): Show c.1698-184_1698-170dupAAAAAAAAAAAAAAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57464670	T T	TTTTCCTT others(8): Show TTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00741.hp1 HG01074.hp2 others(21): Show HG00621.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp2 HG01243.hp1 HG01515.hp2 HG01975.hp2 HG02071.hp1 HG02451.hp1 HG02647.hp1 HG02738.hp1 HG02922.hp1 HG03195.hp1 HG03490.hp1 HG03688.hp2 HG04199.hp1 HG04204.hp2 NA18522.hp2 NA18951.hp2 NA18954.hp2 NA18984.hp1 NA19002.hp2 NA19004.hp2 NA20129.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0006 a0007 a0009 a0010 a0012 a0021 a0024	a0001c0001 a0001c0005 a0002c0002 others(8): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0006c0007 a0007c0009 a0009c0014 a0010c0013 a0012c0019 a0021c0028 a0024c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 a0001c0005t0001 a0002c0002t0003 a0002c0002t0012 a0003c0003t0001 a0003c0003t0002 a0006c0007t0005 a0007c0009t0039 a0009c0014t0006 a0010c0013t0023 a0012c0019t0006 a0021c0028t0006 a0024c0024t0002	a0001c0001t0001g0087 a0001c0001t0001g0197 a0001c0001t0001g0248 others(21): Show a0001c0001t0001g0087 a0001c0001t0001g0197 a0001c0001t0001g0248 a0001c0001t0002g0067 a0001c0001t0002g0105 a0001c0001t0002g0244 a0001c0001t0004g0021 a0001c0001t0004g0155 a0001c0001t0004g0254 a0001c0001t0019g0160 a0001c0005t0001g0222 a0001c0005t0001g0245 a0002c0002t0003g0242 a0002c0002t0012g0263 a0003c0003t0001g0210 a0003c0003t0002g0172 a0006c0007t0005g0142 a0006c0007t0005g0164 a0007c0009t0039g0286 a0009c0014t0006g0050 a0010c0013t0023g0051 a0012c0019t0006g0036 a0021c0028t0006g0066 a0024c0024t0002g0111	24	294	0.0816	15	c.240 others(34): Show c.2403+2826_2403+2840dupTCCTTTCCTTTCCTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGREF1_chr2_27095594_27124128	27107250	A A	ATTTGTTT others(8): Show ATTTGTTTTGTTTTGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01106.hp2 HG01167.hp2 others(12): Show HG00639.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01346.hp1 HG02257.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG03225.hp2 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0150 others(10): Show a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0319	15	352	0.0426	15	c.-11 others(32): Show c.-11-2874_-11-2873insACAAAACAAAACAAA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116924	T T	TCTCTCTC others(8): Show TCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	352	0.0028	15	c.-12 others(32): Show c.-12+1921_-12+1922insGAGAGAGAGAGAGAG	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHAF1A_chr19_4397640_4448397	4408461	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp2 HG02071.hp1 others(2): Show HG00741.hp1 HG01243.hp2 HG02071.hp1 HG02818.hp1 NA18989.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0018 a0001c0001 a0005c0018	a0001c0001t0001 a0005c0018t0002 a0001c0001t0001 a0005c0018t0002	a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0142 others(2): Show a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0142 a0001c0001t0001g0228 a0005c0018t0002g0363	5	384	0.0130	15	c.104 others(30): Show c.104-426_104-412dupTTTTTTTTTTTTTTT	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(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02451.hp2 HG02630.hp2 others(4): Show HG01070.hp2 HG02451.hp2 HG02630.hp2 HG02809.hp2 HG02818.hp1 HG02970.hp2 HG02976.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0016	a0001c0003 a0002c0002 a0003c0004 others(3): Show a0001c0003 a0002c0002 a0003c0004 a0005c0006 a0005c0018 a0016c0025	a0001c0003t0003 a0002c0002t0002 a0003c0004t0002 others(3): Show a0001c0003t0003 a0002c0002t0002 a0003c0004t0002 a0005c0006t0002 a0005c0018t0002 a0016c0025t0002	a0001c0003t0003g0287 a0002c0002t0002g0106 a0002c0002t0002g0112 others(4): Show a0001c0003t0003g0287 a0002c0002t0002g0106 a0002c0002t0002g0112 a0003c0004t0002g0337 a0005c0006t0002g0357 a0005c0018t0002g0363 a0016c0025t0002g0333	7	384	0.0182	15	c.960 others(32): Show c.960+1892_960+1906dupTTTTTTTTTTTTTTT	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(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA19068.hp1 HG04184.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0260 a0001c0001t0001g0138 a0001c0001t0001g0260	2	384	0.0052	15	c.137 others(34): Show c.1378-1511_1378-1497dupTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4437735	T T	TTTTTATT others(8): Show TTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01891.hp1 HG00735.hp1 HG01891.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0006 a0007c0010t0006	a0007c0010t0006g0367 a0007c0010t0006g0368 a0007c0010t0006g0367 a0007c0010t0006g0368	2	384	0.0052	15	c.267 others(34): Show c.2673+4206_2673+4220dupATTTTATTTTATTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAT_chr10_49609037_49672942	49623117	T T	TTGTCTCC others(8): Show TTGTCTCCTCATGGTG	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0130 a0003c0004t0001g0130	1	418	0.0024	15	c.752 others(30): Show c.752+973_752+987dupCCTCATGGTGTGTCT	CHAT	ENSG00000070748.19	transcript	ENST00000337653.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
CHCHD6_chr3_126699240_126965420	126862689	C C	CTCCACCA others(8): Show CTCCACCATCACCTCT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0073	1	216	0.0046	15	c.495 others(32): Show c.495+9962_495+9963insACCATCACCTCTTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126862807	A A	ACCATCAC others(8): Show ACCATCACCTCTTCCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02886.hp2 HG03041.hp1 HG02451.hp2 HG02886.hp2 HG03041.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0008 a0002c0002 a0006c0008	a0002c0002t0002 a0006c0008t0002 a0002c0002t0002 a0006c0008t0002	a0002c0002t0002g0096 a0002c0002t0002g0097 a0006c0008t0002g0098 a0002c0002t0002g0096 a0002c0002t0002g0097 a0006c0008t0002g0098	3	216	0.0139	15	c.495 others(34): Show c.495+10080_495+10081insTCACCTCTTCCTCCA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126865154	C C	CTCCTCCT others(8): Show CTCCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18522.hp2 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0205 a0001c0001t0001g0100 a0001c0001t0001g0205	2	216	0.0093	15	c.495 others(34): Show c.495+12424_495+12425insTCCTCCTCCTCCACT	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7			chr3	TogoVar

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