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
CEP131_chr17_81184596_81227965	81195112	C C	CACACATG others(10): Show CACACATGCCAGCTCCAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00558.hp1 others(64): Show HG00323.hp1 HG00408.hp1 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00735.hp1 HG02027.hp2 HG02040.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03834.hp2 HG04115.hp1 HG04228.hp1 NA18943.hp1 NA18949.hp1 NA18952.hp2 NA18957.hp2 NA18962.hp2 NA18964.hp1 NA18969.hp1 NA18977.hp2 NA18979.hp2 NA18994.hp2 NA18998.hp2 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19055.hp1 NA19057.hp2 NA19070.hp2 NA19077.hp2 NA19082.hp1 NA19089.hp1 NA19090.hp1	a0002 a0004 a0010 others(8): Show a0002 a0004 a0010 a0017 a0029 a0031 a0036 a0037 a0039 a0043 a0044	a0002c0002 a0002c0047 a0002c0061 others(10): Show a0002c0002 a0002c0047 a0002c0061 a0004c0045 a0010c0013 a0017c0022 a0029c0041 a0031c0043 a0036c0060 a0037c0048 a0039c0046 a0043c0068 a0044c0067	a0002c0002t0001 a0002c0002t0002 a0002c0002t0012 others(12): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0012 a0002c0047t0002 a0002c0061t0001 a0004c0045t0001 a0010c0013t0004 a0017c0022t0001 a0029c0041t0001 a0031c0043t0001 a0036c0060t0001 a0037c0048t0002 a0039c0046t0002 a0043c0068t0004 a0044c0067t0001	a0002c0002t0001g0024 a0002c0002t0001g0270 a0002c0002t0002g0001 others(53): Show a0002c0002t0001g0024 a0002c0002t0001g0270 a0002c0002t0002g0001 a0002c0002t0002g0011 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0033 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0039 a0002c0002t0002g0042 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0060 a0002c0002t0002g0067 a0002c0002t0002g0088 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0012g0306 a0002c0047t0002g0034 a0002c0061t0001g0175 a0004c0045t0001g0282 a0010c0013t0004g0335 a0010c0013t0004g0336 a0010c0013t0004g0337 a0010c0013t0004g0338 a0010c0013t0004g0339 a0017c0022t0001g0130 a0017c0022t0001g0131 a0017c0022t0001g0132 a0029c0041t0001g0244 a0031c0043t0001g0248 a0036c0060t0001g0172 a0037c0048t0002g0031 a0039c0046t0002g0038 a0043c0068t0004g0334 a0044c0067t0001g0127	67	384	0.1745	17	c.201 others(34): Show c.2017-141_2017-140insCTGGAGCTGGCATGTGT	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	16/25			chr17	TogoVar
CEP131_chr17_81184596_81227965	81205448	G G	GGGGGGGT others(10): Show GGGGGGGTAGGAGGGGCA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01074.hp2 HG01256.hp1 others(47): Show HG00621.hp1 HG01074.hp2 HG01256.hp1 HG01358.hp1 HG01358.hp2 HG01891.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02280.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02886.hp1 HG02965.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG06807.hp2 NA18612.hp1 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18949.hp2 NA18952.hp1 NA18955.hp1 NA18960.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp2 NA18999.hp1 NA19005.hp1 NA19043.hp1 NA19056.hp2 NA19081.hp1 NA19084.hp1 NA19088.hp1 NA20300.hp2	a0003 a0004 a0005 others(12): Show a0003 a0004 a0005 a0008 a0012 a0014 a0020 a0021 a0022 a0024 a0028 a0030 a0041 a0045 a0046	a0003c0014 a0004c0005 a0004c0044 others(16): Show a0003c0014 a0004c0005 a0004c0044 a0004c0045 a0005c0006 a0008c0009 a0012c0016 a0014c0024 a0014c0037 a0020c0056 a0020c0066 a0021c0026 a0022c0030 a0024c0033 a0028c0036 a0030c0039 a0041c0057 a0045c0070 a0046c0071	a0003c0014t0003 a0004c0005t0001 a0004c0044t0011 others(16): Show a0003c0014t0003 a0004c0005t0001 a0004c0044t0011 a0004c0045t0001 a0005c0006t0001 a0008c0009t0001 a0012c0016t0001 a0014c0024t0001 a0014c0037t0001 a0020c0056t0001 a0020c0066t0001 a0021c0026t0003 a0022c0030t0003 a0024c0033t0003 a0028c0036t0001 a0030c0039t0001 a0041c0057t0001 a0045c0070t0001 a0046c0071t0001	a0003c0014t0003g0316 a0003c0014t0003g0324 a0003c0014t0003g0326 others(42): Show a0003c0014t0003g0316 a0003c0014t0003g0324 a0003c0014t0003g0326 a0003c0014t0003g0327 a0004c0005t0001g0023 a0004c0005t0001g0276 a0004c0005t0001g0279 a0004c0005t0001g0280 a0004c0005t0001g0281 a0004c0005t0001g0283 a0004c0005t0001g0296 a0004c0005t0001g0297 a0004c0005t0001g0298 a0004c0044t0011g0299 a0004c0045t0001g0282 a0005c0006t0001g0005 a0005c0006t0001g0022 a0005c0006t0001g0257 a0005c0006t0001g0258 a0005c0006t0001g0260 a0008c0009t0001g0261 a0008c0009t0001g0262 a0008c0009t0001g0263 a0008c0009t0001g0264 a0008c0009t0001g0267 a0008c0009t0001g0277 a0008c0009t0001g0285 a0012c0016t0001g0253 a0012c0016t0001g0255 a0012c0016t0001g0256 a0012c0016t0001g0302 a0014c0024t0001g0249 a0014c0024t0001g0254 a0014c0037t0001g0259 a0020c0056t0001g0149 a0020c0066t0001g0215 a0021c0026t0003g0331 a0021c0026t0003g0332 a0022c0030t0003g0315 a0024c0033t0003g0313 a0028c0036t0001g0252 a0030c0039t0001g0251 a0041c0057t0001g0139 a0045c0070t0001g0128 a0046c0071t0001g0129	50	384	0.1302	17	c.515 others(34): Show c.515+1295_515+1296insTGCCCCTCCTACCCCCC	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	5/25			chr17	TogoVar
CEP152_chr15_48732938_48816069	48765636	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	342	0.0029	17	c.228 others(36): Show c.2280+1407_2280+1423dupAAAAAAAAAAAAAAAAA	CEP152	ENSG00000103995.14	transcript	ENST00000380950.7	protein_coding	17/26			chr15	TogoVar
CEP162_chr6_84119250_84232643	84135451	C C	CAGACTGC others(10): Show CAGACTGCTTCCCAGAGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG02647.hp2 others(2): Show HG01884.hp1 HG02280.hp1 HG02647.hp2 HG02809.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0140 a0001c0001t0002g0199 others(2): Show a0001c0001t0002g0110 a0001c0001t0002g0140 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201	5	214	0.0234	17	c.387 others(36): Show c.3871-8956_3871-8940dupTCTCTGGGAAGCAGTCT	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	25/26			chr6	TogoVar
CEP20_chr16_15860719_15893603	15890556	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	433	0.0023	17	c.-19 others(28): Show c.-1972_-1971insTTTTTTTTTTTTTTTTT	CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding		1954		chr16	TogoVar
CEP250_chr20_35450598_35524280	35451046	A A	AAATATAT others(10): Show AAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0018 a0018	a0018c0029 a0018c0029	a0018c0029t0057 a0018c0029t0057	a0018c0029t0057g0233 a0018c0029t0057g0233	1	260	0.0039	17	c.-50 others(28): Show c.-5003_-5002insAATATATATATATATAT	CEP250	ENSG00000126001.17	transcript	ENST00000397527.6	protein_coding		4551		chr20	TogoVar
CEP250_chr20_35450598_35524280	35451050	A A	ATATATAT others(10): Show ATATATATATATATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01071.hp2 others(6): Show HG00099.hp1 HG00140.hp1 HG01071.hp2 HG01099.hp2 HG03041.hp2 HG03942.hp2 NA18998.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0170 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0170 a0001c0001t0001g0185 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0223 a0001c0001t0013g0173	9	260	0.0346	17	c.-49 others(28): Show c.-4999_-4998insTATATATATATATAAAT	CEP250	ENSG00000126001.17	transcript	ENST00000397527.6	protein_coding		4547		chr20	TogoVar
CEP250_chr20_35450598_35524280	35451052	A A	ATATATAT others(10): Show ATATATATATATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0206 a0001c0001t0001g0190 a0001c0001t0001g0206	2	260	0.0077	17	c.-49 others(28): Show c.-4997_-4996insTATATATATATAAATAT	CEP250	ENSG00000126001.17	transcript	ENST00000397527.6	protein_coding		4545		chr20	TogoVar
CEP290_chr12_88044016_88147088	88107404	A A	AATAATAA others(10): Show AATAATAATTGAACACAG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0057 a0001c0003t0001g0057	1	234	0.0043	17	c.248 others(34): Show c.2484-307_2484-306insCTGTGTTCAATTATTAT	CEP290	ENSG00000198707.17	transcript	ENST00000552810.6	protein_coding	23/53			chr12	TogoVar
CEP295_chr11_93656682_93735358	93705289	C C	CAAAGCAC others(10): Show CAAAGCACAAATATGCAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	354	0.0028	17	c.559 others(36): Show c.5597-1452_5597-1436dupGCACAAATATGCATAAA	CEP295	ENSG00000166004.15	transcript	ENST00000325212.11	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP350_chr1_179949810_180119875	180090470	C C	CGGGAGGC others(10): Show CGGGAGGCGGAGCTTGCA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	248	0.0040	17	c.642 others(34): Show c.6426-242_6426-226dupGGAGGCGGAGCTTGCAG	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	32/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP41_chr7_130388771_130446016	130410029	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTCTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0067 a0004c0003t0067	a0004c0003t0067g0309 a0004c0003t0067g0309	1	346	0.0029	17	c.277 others(34): Show c.277+1092_277+1093insAAGAAAAAAAAAAAAAA	CEP41	ENSG00000106477.20	transcript	ENST00000223208.10	protein_coding	5/10			chr7	TogoVar
CEP41_chr7_130388771_130446016	130426449	A A	ATCAGTAA others(10): Show ATCAGTAATAGGAGGAAG	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	346	0.0029	17	c.97+ others(32): Show c.97+1505_97+1506insCTTCCTCCTATTACTGA	CEP41	ENSG00000106477.20	transcript	ENST00000223208.10	protein_coding	2/10			chr7	TogoVar
CEP41_chr7_130388771_130446016	130437764	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18969.hp2 NA18983.hp2 others(1): Show HG00558.hp2 NA18969.hp2 NA18983.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0007 a0001c0001t0013g0028 a0001c0001t0013g0168 a0001c0001t0013g0007 a0001c0001t0013g0028 a0001c0001t0013g0168	4	346	0.0116	17	c.33+ others(32): Show c.33+3153_33+3169dupTTTTTTTTTTTTTTTTT	CEP41	ENSG00000106477.20	transcript	ENST00000223208.10	protein_coding	1/10			chr7	TogoVar
CEP43_chr6_166994397_167057718	167038313	T T	TTCAGCCT others(10): Show TTCAGCCTCCAAAAGGAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00621.hp2 others(19): Show HG00597.hp2 HG00609.hp1 HG00621.hp2 HG01361.hp1 HG02080.hp2 HG02145.hp2 HG03486.hp2 HG03942.hp1 HG04204.hp1 NA18948.hp1 NA18950.hp1 NA18963.hp2 NA18970.hp2 NA18977.hp2 NA18979.hp2 NA18990.hp2 NA18993.hp1 NA19009.hp1 NA19056.hp1 NA19058.hp2 NA19072.hp2 NA20905.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0007 a0002c0002 a0006c0007	a0002c0002t0015 a0002c0002t0035 a0002c0002t0036 others(14): Show a0002c0002t0015 a0002c0002t0035 a0002c0002t0036 a0002c0002t0091 a0002c0002t0092 a0002c0002t0093 a0002c0002t0094 a0002c0002t0095 a0002c0002t0096 a0002c0002t0097 a0002c0002t0098 a0002c0002t0099 a0002c0002t0100 a0002c0002t0101 a0002c0002t0102 a0002c0002t0103 a0006c0007t0090	a0002c0002t0015g0037 a0002c0002t0015g0038 a0002c0002t0015g0039 others(19): Show a0002c0002t0015g0037 a0002c0002t0015g0038 a0002c0002t0015g0039 a0002c0002t0015g0203 a0002c0002t0035g0200 a0002c0002t0035g0209 a0002c0002t0036g0037 a0002c0002t0036g0202 a0002c0002t0091g0039 a0002c0002t0092g0206 a0002c0002t0093g0201 a0002c0002t0094g0211 a0002c0002t0095g0207 a0002c0002t0096g0208 a0002c0002t0097g0204 a0002c0002t0098g0196 a0002c0002t0099g0197 a0002c0002t0100g0205 a0002c0002t0101g0210 a0002c0002t0102g0038 a0002c0002t0103g0199 a0006c0007t0090g0198	22	376	0.0585	17	c.112 others(36): Show c.1126-1588_1126-1587insGCCTCCAAAAGGACTCA	CEP43	ENSG00000213066.14	transcript	ENST00000366847.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP44_chr4_174278911_174325328	174291782	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0028 a0007c0007t0028	a0007c0007t0028g0043 a0007c0007t0028g0043	1	388	0.0026	17	c.-14 others(36): Show c.-147-6180_-147-6179insTTTTTTTTTTTTTTTTT	CEP44	ENSG00000164118.13	transcript	ENST00000503780.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
CEP63_chr3_134481057_134570031	134547614	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp1 HG02015.hp1 others(24): Show HG01496.hp2 HG01891.hp1 HG02015.hp1 HG02071.hp2 HG02280.hp1 HG02523.hp1 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG04204.hp1 NA18951.hp1 NA18974.hp2 NA18978.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 a0001c0003t0003 a0001c0003t0008 a0001c0003t0023 a0001c0004t0003	a0001c0001t0001g0138 a0001c0001t0001g0149 a0001c0001t0001g0207 others(23): Show a0001c0001t0001g0138 a0001c0001t0001g0149 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0221 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0009g0100 a0001c0003t0001g0006 a0001c0003t0001g0152 a0001c0003t0003g0156 a0001c0003t0003g0162 a0001c0003t0003g0165 a0001c0003t0003g0176 a0001c0003t0003g0181 a0001c0003t0003g0189 a0001c0003t0003g0191 a0001c0003t0003g0195 a0001c0003t0003g0198 a0001c0003t0003g0201 a0001c0003t0008g0199 a0001c0003t0023g0173 a0001c0004t0003g0192	27	322	0.0839	17	c.106 others(34): Show c.1067+157_1067+158insTTTTTTTTTTTTTTTTT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP85L_chr6_118455772_118656591	118472545	T T	TTTAAAAG others(10): Show TTTAAAAGATATCTTATG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0019 a0007c0007t0019	a0007c0007t0019g0299 a0007c0007t0019g0299	1	302	0.0033	17	c.191 others(36): Show c.1915-1902_1915-1901insCATAAGATATCTTTTAA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	10/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118542900	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18964.hp2 HG02572.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0193 a0002c0002t0002g0230 a0002c0002t0002g0193 a0002c0002t0002g0230	2	302	0.0066	17	c.102 others(38): Show c.1021-18997_1021-18981dupTTTTTTTTTTTTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600294	C C	CTGGGTGT others(10): Show CTGGGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0030 a0003c0003t0003g0030	1	302	0.0033	17	c.232 others(36): Show c.232+32158_232+32159insACACACACACACACCCA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GGGGGGGG others(10): Show GGGGGGGGGGGGGGGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0186 a0002c0002t0027g0186	1	302	0.0033	17	c.232 others(36): Show c.232+32152_232+32153insACACCCCCCCCCCCCCC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85_chr1_26229200_26283808	26235567	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA18906.hp1 HG00639.hp1 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0001 a0004c0011t0008 a0001c0001t0001 a0004c0011t0008	a0001c0001t0001g0284 a0004c0011t0008g0291 a0001c0001t0001g0284 a0004c0011t0008g0291	2	342	0.0059	17	c.-23 others(34): Show c.-23+1261_-23+1277dupTTTTTTTTTTTTTTTTT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP85_chr1_26229200_26283808	26248722	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	342	0.0029	17	c.208 others(34): Show c.208+4410_208+4426dupTTTTTTTTTTTTTTTTT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP85_chr1_26229200_26283808	26256928	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp1 HG01167.hp1 others(14): Show HG00099.hp1 HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01358.hp1 HG01516.hp1 HG01981.hp1 HG02129.hp1 HG02895.hp2 HG03654.hp2 HG04204.hp2 NA18968.hp2 NA19060.hp2 NA19062.hp2 NA19081.hp1 NA19083.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 a0005c0006t0001	a0001c0001t0001g0180 a0001c0001t0001g0299 a0002c0002t0001g0009 others(13): Show a0001c0001t0001g0180 a0001c0001t0001g0299 a0002c0002t0001g0009 a0002c0002t0001g0217 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0250 a0002c0002t0001g0254 a0002c0002t0001g0259 a0002c0002t0001g0263 a0002c0002t0001g0267 a0002c0002t0001g0274 a0002c0002t0007g0213 a0005c0006t0001g0260	17	342	0.0497	17	c.904 others(32): Show c.904-669_904-668insTGTGTGTGTGTGTGTGT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	4/13			chr1	TogoVar
CEP85_chr1_26229200_26283808	26256956	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03098.hp1 HG03139.hp1 others(2): Show HG02647.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03486.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0003 a0003c0007t0004 a0001c0001t0003 a0003c0007t0004	a0001c0001t0003g0099 a0001c0001t0003g0115 a0001c0001t0003g0136 others(2): Show a0001c0001t0003g0099 a0001c0001t0003g0115 a0001c0001t0003g0136 a0001c0001t0003g0138 a0003c0007t0004g0320	5	342	0.0146	17	c.904 others(32): Show c.904-641_904-640insGTGTGTGTGTGTGTGTG	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	4/13			chr1	TogoVar
CEP89_chr19_32870925_32976958	32944220	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp2 HG03516.hp2 others(1): Show HG02630.hp2 HG02922.hp2 HG03516.hp2 NA21309.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0002c0001 a0007c0011 a0001c0002 a0002c0001 a0007c0011	a0001c0002t0010 a0002c0001t0002 a0007c0011t0012 a0001c0002t0010 a0002c0001t0002 a0007c0011t0012	a0001c0002t0010g0377 a0001c0002t0010g0378 a0002c0001t0002g0310 others(1): Show a0001c0002t0010g0377 a0001c0002t0010g0378 a0002c0001t0002g0310 a0007c0011t0012g0380	4	386	0.0104	17	c.595 others(34): Show c.595+4029_595+4045dupTTTTTTTTTTTTTTTTT	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	5/18			chr19	TogoVar
CERS4_chr19_8204370_8267421	8231851	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp1 HG03195.hp1 HG02647.hp1 HG02723.hp1 HG03195.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0002c0003t0001 a0003c0004t0001 a0001c0001t0001 a0002c0003t0001 a0003c0004t0001	a0001c0001t0001g0125 a0002c0003t0001g0405 a0003c0004t0001g0132 a0001c0001t0001g0125 a0002c0003t0001g0405 a0003c0004t0001g0132	3	418	0.0072	17	c.-1- others(34): Show c.-1-19219_-1-19203dupTTTTTTTTTTTTTTTTT	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8238289	A A	AGGGAGGG others(10): Show AGGGAGGGGTATTGGCTG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18969.hp2 NA18995.hp1 others(4): Show NA18960.hp2 NA18969.hp2 NA18995.hp1 NA19010.hp1 NA19010.hp2 NA19081.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006	a0001c0002t0004g0236 a0001c0002t0005g0063 a0001c0002t0006g0214 others(4): Show a0001c0002t0004g0236 a0001c0002t0005g0063 a0001c0002t0006g0214 a0001c0002t0006g0234 a0001c0002t0006g0235 a0001c0002t0006g0237 a0001c0002t0006g0268	7	418	0.0168	17	c.-1- others(34): Show c.-1-12778_-1-12762dupTATTGGCTGGGGAGGGG	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8265236	C C	CAAACTTT others(10): Show CAAACTTTGGGAGGCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0410 a0003c0004t0001g0410	1	418	0.0024	17	c.31 others(28): Show c.3127_*3128insAAACTTTGGGAGGCTGA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		2816		chr19	TogoVar
CERS4_chr19_8204370_8267421	8266863	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	418	0.0024	17	c.47 others(28): Show c.4754_*4755insAAAAAAAAAAAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		4443		chr19	TogoVar
CERS4_chr19_8204370_8267421	8267294	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00733.hp1 others(20): Show HG00280.hp2 HG00423.hp1 HG00733.hp1 HG00735.hp1 HG01258.hp2 HG02040.hp1 HG02132.hp2 HG02273.hp1 HG02280.hp2 HG02486.hp2 HG03098.hp1 HG03471.hp1 HG03710.hp2 HG03831.hp1 HG04199.hp2 NA18939.hp2 NA18954.hp1 NA18962.hp1 NA18980.hp2 NA18985.hp1 NA19068.hp2 NA19091.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0008 others(4): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003 a0002c0013 a0002c0023 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0006 a0001c0008t0001 a0002c0003t0001 a0002c0003t0004 a0002c0013t0001 a0002c0023t0003 a0003c0004t0001 a0003c0004t0004	a0001c0001t0002g0219 a0001c0001t0002g0295 a0001c0001t0002g0337 others(20): Show a0001c0001t0002g0219 a0001c0001t0002g0295 a0001c0001t0002g0337 a0001c0001t0002g0343 a0001c0001t0002g0345 a0001c0001t0002g0352 a0001c0001t0002g0364 a0001c0001t0002g0368 a0001c0001t0003g0133 a0001c0001t0003g0184 a0001c0001t0003g0191 a0001c0001t0006g0225 a0001c0002t0001g0163 a0001c0002t0006g0215 a0001c0008t0001g0085 a0002c0003t0001g0103 a0002c0003t0001g0109 a0002c0003t0001g0118 a0002c0003t0004g0332 a0002c0013t0001g0129 a0002c0023t0003g0009 a0003c0004t0001g0010 a0003c0004t0004g0328	23	418	0.0550	17	c.51 others(28): Show c.5185_*5186insAAAAAAAAAAAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		4874		chr19	TogoVar
CERS5_chr12_50124289_50172369	50148925	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA19065.hp2 NA18966.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0298 a0001c0002t0002g0302 a0001c0002t0002g0298 a0001c0002t0002g0302	2	320	0.0063	17	c.198 others(34): Show c.198-4869_198-4868insATATATATATATATATA	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50161784	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19066.hp1 HG03098.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0207 a0001c0001t0004g0184 a0001c0001t0001g0207 a0001c0001t0004g0184	2	320	0.0063	17	c.197 others(34): Show c.197+5316_197+5317insTTTTTTTTTTTTTTTTT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS6_chr2_168451272_168780134	168520598	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19030.hp1 HG06807.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0008 a0001c0001t0009	a0001c0001t0008g0083 a0001c0001t0009g0044 a0001c0001t0008g0083 a0001c0001t0009g0044	2	176	0.0114	17	c.171 others(36): Show c.171-26985_171-26969dupTTTTTTTTTTTTTTTTT	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERT1_chr5_75372775_75516629	75393602	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03486.hp2 HG03540.hp1 HG01243.hp1 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0287 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0287 a0001c0001t0003g0289 a0001c0001t0003g0290	3	336	0.0089	17	c.118 others(36): Show c.1189-3932_1189-3916dupTTTTTTTTTTTTTTTTT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	11/16			chr5	TogoVar
CES5A_chr16_55841154_55880373	55866658	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0224 a0005c0008t0002g0224	1	449	0.0022	17	c.552 others(32): Show c.552-559_552-543dupTTTTTTTTTTTTTTTTT	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	4/12			chr16	TogoVar
CFAP126_chr1_161359733_161372876	161372610	G G	GGGATTTC others(10): Show GGGATTTCGTTTGCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0015 a0002c0002t0003g0015	1	350	0.0029	17	c.-47 others(28): Show c.-4743_-4742insGCAGGCAAACGAAATCC	CFAP126	ENSG00000188931.4	transcript	ENST00000367974.2	protein_coding		4735		chr1	TogoVar
CFAP161_chr15_81129270_81154179	81150856	T T	TTCTTGAC others(10): Show TTCTTGACTGAACACCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	448	0.0022	17	c.23 others(28): Show c.2323_*2324insTCTTGACTGAACACCGA	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding		1678		chr15	TogoVar
CFAP206_chr6_87402972_87469465	87462526	A A	AGTACCTC others(10): Show AGTACCTCCTTGTAAGTG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	376	0.0027	17	c.163 others(36): Show c.1638+1381_1638+1397dupACCTCCTTGTAAGTGGT	CFAP206	ENSG00000272514.6	transcript	ENST00000369562.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CFAP20DC_chr3_58737008_59055025	58880095	T T	TACAATCA others(10): Show TACAATCATTGACATCAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp1 HG02572.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0002 a0001c0002t0001g0003	2	204	0.0098	17	c.715 others(34): Show c.715+4433_715+4449dupTTGATGTCAATGATTGT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	7/16			chr3	TogoVar
CFAP221_chr2_119539449_119661661	119628289	T T	TCTCTGTG others(10): Show TCTCTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	226	0.0044	17	c.165 others(34): Show c.1650+503_1650+504insCTCTGTGTGTGTGTGTG	CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	16/23			chr2	TogoVar
CFAP221_chr2_119539449_119661661	119628289	T T	TCTGTGTG others(10): Show TCTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	226	0.0044	17	c.165 others(34): Show c.1650+503_1650+504insCTGTGTGTGTGTGTGTG	CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	16/23			chr2	TogoVar
CFAP251_chr12_121913592_122008919	121928704	A A	ACGTATAT others(10): Show ACGTATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18942.hp1 NA18978.hp1 others(4): Show HG03139.hp2 NA18942.hp1 NA18978.hp1 NA18981.hp1 NA18999.hp1 NA19055.hp2 NA19082.hp1	a0003 a0006 a0003 a0006	a0003c0009 a0006c0011 a0003c0009 a0006c0011	a0003c0009t0001 a0006c0011t0001 a0003c0009t0001 a0006c0011t0001	a0003c0009t0001g0058 a0003c0009t0001g0059 a0003c0009t0001g0060 others(4): Show a0003c0009t0001g0058 a0003c0009t0001g0059 a0003c0009t0001g0060 a0003c0009t0001g0061 a0003c0009t0001g0062 a0003c0009t0001g0063 a0006c0011t0001g0306	7	354	0.0198	17	c.748 others(34): Show c.748-3042_748-3041insCGTATATATATATATTT	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	3/21			chr12	TogoVar
CFAP251_chr12_121913592_122008919	121959739	C C	CTGGAAAG others(10): Show CTGGAAAGGAGTGTAAAA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0060 a0003c0009t0001g0060	1	354	0.0028	17	c.213 others(34): Show c.2133+646_2133+662dupTGGAAAGGAGTGTAAAA	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP251_chr12_121913592_122008919	121978393	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18981.hp1 NA18999.hp1 NA18978.hp1 NA18981.hp1 NA18999.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0060 a0003c0009t0001g0061 a0003c0009t0001g0063 a0003c0009t0001g0060 a0003c0009t0001g0061 a0003c0009t0001g0063	3	354	0.0085	17	c.300 others(36): Show c.3006+2720_3006+2736dupAAAAAAAAAAAAAAAAA	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP298_chr21_32594354_32617377	32611339	A A	ATATATAT others(10): Show ATATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0217 a0001c0002t0040g0217	1	416	0.0024	17	c.139 others(32): Show c.139+765_139+766insATATATGTATATATATA	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6			chr21	TogoVar
CFAP298_chr21_32594354_32617377	32611339	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02572.hp1 NA18966.hp1 HG02015.hp1 HG02572.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0209 a0001c0001t0003g0029 a0001c0001t0001g0209 a0001c0001t0003g0029	3	416	0.0072	17	c.139 others(32): Show c.139+765_139+766insATATATATATATATATA	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6			chr21	TogoVar
CFAP299_chr4_80330730_80968750	80572507	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19091.hp2 NA19085.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0063 a0001c0001t0001g0072	2	96	0.0208	17	c.243 others(36): Show c.243-10574_243-10558dupTTTTTTTTTTTTTTTTT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80937312	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp1 HG02523.hp1 others(4): Show HG00408.hp1 HG00639.hp1 HG02523.hp1 HG03041.hp2 HG03139.hp2 NA18957.hp2 NA18998.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0006 a0001c0001 a0001c0003 a0002c0006	a0001c0001t0001 a0001c0003t0002 a0002c0006t0001 a0001c0001t0001 a0001c0003t0002 a0002c0006t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(4): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0003t0002g0092 a0002c0006t0001g0082	7	96	0.0729	17	c.477 others(34): Show c.477-7492_477-7476dupTTTTTTTTTTTTTTTTT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP44_chr3_113281930_113446493	113293435	T T	TTTGGGGA others(10): Show TTTGGGGATTAAATGAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02630.hp2 others(7): Show HG02055.hp1 HG02145.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02922.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 NA19043.hp1	a0008 a0011 a0020 others(1): Show a0008 a0011 a0020 a0026	a0008c0010 a0011c0017 a0020c0020 others(1): Show a0008c0010 a0011c0017 a0020c0020 a0026c0042	a0008c0010t0027 a0008c0010t0042 a0008c0010t0043 others(4): Show a0008c0010t0027 a0008c0010t0042 a0008c0010t0043 a0011c0017t0028 a0011c0017t0041 a0020c0020t0011 a0026c0042t0078	a0008c0010t0027g0048 a0008c0010t0027g0283 a0008c0010t0042g0049 others(6): Show a0008c0010t0027g0048 a0008c0010t0027g0283 a0008c0010t0042g0049 a0008c0010t0043g0050 a0011c0017t0028g0277 a0011c0017t0028g0278 a0011c0017t0041g0041 a0020c0020t0011g0005 a0026c0042t0078g0320	10	348	0.0287	17	c.537 others(36): Show c.5373+1235_5373+1251dupTTTCATTTAATCCCCAA	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	34/34			chr3	TogoVar

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