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
CEP70_chr3_138489344_138599260	138499783	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp1 HG02630.hp2 others(11): Show HG01243.hp2 HG02559.hp1 HG02630.hp2 HG02818.hp2 HG02897.hp2 HG02965.hp1 HG03098.hp2 HG03130.hp1 HG03453.hp2 HG03486.hp2 NA18982.hp1 NA18986.hp2 NA19082.hp2 NA19240.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0003 a0002c0002t0002 a0003c0003t0003	a0002c0002t0002g0244 a0003c0003t0003g0003 a0003c0003t0003g0050 others(9): Show a0002c0002t0002g0244 a0003c0003t0003g0003 a0003c0003t0003g0050 a0003c0003t0003g0056 a0003c0003t0003g0077 a0003c0003t0003g0081 a0003c0003t0003g0094 a0003c0003t0003g0095 a0003c0003t0003g0097 a0003c0003t0003g0098 a0003c0003t0003g0099 a0003c0003t0003g0100	14	318	0.0440	6	c.165 others(23): Show c.1652+321_1652+326dupGTGTGT	CEP70	ENSG00000114107.9	transcript	ENST00000264982.8	protein_coding	16/17			chr3	TogoVar
CEP70_chr3_138489344_138599260	138555248	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00558.hp2 others(64): Show HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp2 HG01346.hp1 HG01884.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02135.hp2 HG02165.hp2 HG02698.hp1 HG02735.hp2 HG02818.hp2 HG02897.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04204.hp1 NA18612.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18956.hp1 NA18961.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19005.hp2 NA19007.hp1 NA19012.hp1 NA19054.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19086.hp1 NA19089.hp2 NA19091.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0002 a0002c0012 others(1): Show a0001c0004 a0002c0002 a0002c0012 a0003c0003	a0001c0004t0004 a0002c0002t0002 a0002c0012t0002 others(1): Show a0001c0004t0004 a0002c0002t0002 a0002c0012t0002 a0003c0003t0003	a0001c0004t0004g0216 a0002c0002t0002g0002 a0002c0002t0002g0006 others(54): Show a0001c0004t0004g0216 a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0012t0002g0268 a0003c0003t0003g0094 a0003c0003t0003g0095	67	318	0.2107	6	c.465 others(25): Show c.465+15064_465+15069dupTTTTTT	CEP70	ENSG00000114107.9	transcript	ENST00000264982.8	protein_coding	6/17			chr3	TogoVar
CEP76_chr18_12667625_12707723	12668597	C C	CAAAAAA CAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01515.hp2 HG02257.hp2 others(6): Show HG00597.hp1 HG01515.hp2 HG02257.hp2 HG02683.hp2 HG03490.hp2 NA18946.hp2 NA18950.hp2 NA18991.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0087 others(5): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0087 a0001c0001t0001g0123 a0001c0001t0001g0165 a0001c0001t0002g0040 a0001c0001t0002g0211 a0001c0001t0002g0231	9	380	0.0237	6	c.47 others(17): Show c.4762_*4767dupTTTTTT	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding		4027		chr18	TogoVar
CEP76_chr18_12667625_12707723	12683186	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG01069.hp1 others(8): Show HG00280.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01256.hp2 HG01258.hp2 HG02683.hp1 HG03669.hp2 HG04199.hp2 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(5): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071	11	380	0.0290	6	c.112 others(25): Show c.1123-2364_1123-2359dupTTTTTT	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding	8/11			chr18	TogoVar
CEP76_chr18_12667625_12707723	12695852	C C	CCACACA CCACACA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01928.hp2 HG02074.hp2 others(9): Show HG01168.hp1 HG01928.hp2 HG02074.hp2 HG02080.hp2 HG02698.hp1 HG03130.hp2 HG03704.hp2 NA18970.hp1 NA18977.hp2 NA18981.hp1 NA19081.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0002g0038 others(8): Show a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0002g0038 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247	12	380	0.0316	6	c.707 others(21): Show c.707-507_707-502dupTGTGTG	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding	5/11			chr18	TogoVar
CEP76_chr18_12667625_12707723	12705570	A A	AGTGTGT AGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG02922.hp2 HG03704.hp1 others(1): Show HG01978.hp2 HG02922.hp2 HG03704.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0199 a0001c0001t0002g0212 others(1): Show a0001c0001t0002g0035 a0001c0001t0002g0199 a0001c0001t0002g0212 a0001c0001t0002g0235	4	380	0.0105	6	c.-30 others(17): Show c.-3023_-3022insACACAC	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding		2848		chr18	TogoVar
CEP76_chr18_12667625_12707723	12705576	A A	AGAGAGT AGAGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG03831.hp2 HG04184.hp2 others(3): Show HG00438.hp1 HG03831.hp2 HG04184.hp2 NA18940.hp2 NA18960.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0117 a0001c0001t0001g0150 others(3): Show a0001c0001t0001g0075 a0001c0001t0001g0117 a0001c0001t0001g0150 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0190	6	380	0.0158	6	c.-30 others(17): Show c.-3029_-3028insACTCTC	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding		2854		chr18	TogoVar
CEP78_chr9_78231075_78284690	78236969	C C	CTTTTTT CTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01074.hp1 others(8): Show HG00738.hp1 HG01069.hp1 HG01074.hp1 HG01123.hp2 HG02257.hp2 HG02559.hp2 HG02683.hp1 HG02965.hp2 HG02970.hp2 HG04115.hp2 NA18984.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0006c0013	a0001c0002t0002 a0001c0003t0004 a0001c0003t0048 others(4): Show a0001c0002t0002 a0001c0003t0004 a0001c0003t0048 a0001c0003t0056 a0001c0004t0014 a0001c0004t0080 a0006c0013t0049	a0001c0002t0002g0090 a0001c0003t0004g0031 a0001c0003t0004g0204 others(7): Show a0001c0002t0002g0090 a0001c0003t0004g0031 a0001c0003t0004g0204 a0001c0003t0004g0205 a0001c0003t0004g0207 a0001c0003t0048g0206 a0001c0003t0056g0202 a0001c0004t0014g0030 a0001c0004t0080g0030 a0006c0013t0049g0203	11	340	0.0324	6	c.253 others(21): Show c.253+390_253+395dupTTTTTT	CEP78	ENSG00000148019.14	transcript	ENST00000643273.2	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP78_chr9_78231075_78284690	78275606	C C	CAAAAAA CAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp2 HG01891.hp1 HG02818.hp1 others(3): Show HG00642.hp2 HG01891.hp1 HG02818.hp1 HG02922.hp2 HG03139.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0021 a0001c0001t0089 a0001c0001t0090 others(1): Show a0001c0001t0021 a0001c0001t0089 a0001c0001t0090 a0001c0009t0091	a0001c0001t0021g0012 a0001c0001t0021g0095 a0001c0001t0089g0094 others(2): Show a0001c0001t0021g0012 a0001c0001t0021g0095 a0001c0001t0089g0094 a0001c0001t0090g0096 a0001c0009t0091g0201	6	340	0.0177	6	c.47 others(17): Show c.4769_*4774dupAAAAAA	CEP78	ENSG00000148019.14	transcript	ENST00000643273.2	protein_coding	17/17	4775	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP78_chr9_78231075_78284690	78279066	G G	GAAAAAA GAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00738.hp2 HG01074.hp1 others(33): Show HG00408.hp2 HG00738.hp2 HG01074.hp1 HG01123.hp2 HG01192.hp2 HG01256.hp2 HG01496.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02055.hp1 HG02083.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 NA18906.hp1 NA18960.hp1 NA18966.hp2 NA18984.hp2 NA18989.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0006c0013	a0001c0001t0012 a0001c0001t0034 a0001c0001t0035 others(11): Show a0001c0001t0012 a0001c0001t0034 a0001c0001t0035 a0001c0001t0095 a0001c0003t0004 a0001c0003t0009 a0001c0003t0027 a0001c0003t0047 a0001c0003t0055 a0001c0003t0056 a0001c0003t0061 a0001c0003t0088 a0001c0007t0063 a0006c0013t0049	a0001c0001t0012g0017 a0001c0001t0012g0226 a0001c0001t0012g0231 others(28): Show a0001c0001t0012g0017 a0001c0001t0012g0226 a0001c0001t0012g0231 a0001c0001t0012g0237 a0001c0001t0034g0091 a0001c0001t0034g0238 a0001c0001t0035g0098 a0001c0001t0035g0099 a0001c0001t0095g0240 a0001c0003t0004g0016 a0001c0003t0004g0031 a0001c0003t0004g0176 a0001c0003t0004g0204 a0001c0003t0004g0205 a0001c0003t0004g0207 a0001c0003t0004g0211 a0001c0003t0004g0212 a0001c0003t0004g0214 a0001c0003t0009g0032 a0001c0003t0009g0215 a0001c0003t0009g0217 a0001c0003t0009g0218 a0001c0003t0027g0208 a0001c0003t0027g0210 a0001c0003t0047g0209 a0001c0003t0055g0177 a0001c0003t0056g0202 a0001c0003t0061g0175 a0001c0003t0088g0174 a0001c0007t0063g0216 a0006c0013t0049g0203	36	340	0.1059	6	c.82 others(17): Show c.8224_*8229dupAAAAAA	CEP78	ENSG00000148019.14	transcript	ENST00000643273.2	protein_coding	17/17	8230	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP83_chr12_94302698_94464867	94330276	G G	GCACACA GCACACA	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA18952.hp2 NA18997.hp2 others(3): Show HG02273.hp2 NA18952.hp2 NA18997.hp2 NA19003.hp2 NA19011.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0006g0004 others(3): Show a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0006g0004 a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0006g0007	6	364	0.0165	6	c.170 others(25): Show c.1707+1418_1707+1423dupTGTGTG	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	14/16			chr12	TogoVar
CEP83_chr12_94302698_94464867	94347050	A A	AATATAT AATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02630.hp1 others(10): Show HG01109.hp1 HG01243.hp1 HG02630.hp1 HG02809.hp2 HG02886.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03516.hp2 HG03540.hp1 NA18906.hp2 NA18944.hp1 NA18970.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0007 a0001c0001 a0001c0006 a0004c0007	a0001c0001t0001 a0001c0006t0001 a0004c0007t0001 a0001c0001t0001 a0001c0006t0001 a0004c0007t0001	a0001c0001t0001g0057 a0001c0001t0001g0102 a0001c0001t0001g0108 others(10): Show a0001c0001t0001g0057 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0205 a0001c0006t0001g0107 a0001c0006t0001g0110 a0001c0006t0001g0111 a0004c0007t0001g0103 a0004c0007t0001g0104 a0004c0007t0001g0105	13	364	0.0357	6	c.134 others(27): Show c.1344-11392_1344-11387dupATATAT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	11/16			chr12	TogoVar
CEP83_chr12_94302698_94464867	94347068	T T	TATATAC TATATAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG00735.hp2 others(20): Show HG00639.hp1 HG00733.hp2 HG00735.hp2 HG01192.hp1 HG01891.hp1 HG02257.hp1 HG02273.hp2 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03209.hp2 NA18952.hp2 NA18997.hp2 NA19003.hp2 NA19011.hp1 NA19030.hp2 NA19077.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(20): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0001t0003g0345 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0003g0350 a0001c0001t0003g0351 a0001c0001t0003g0353 a0001c0001t0003g0361 a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0006g0004 a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0006g0007 a0001c0001t0009g0026	23	364	0.0632	6	c.134 others(27): Show c.1344-11405_1344-11404insGTATAT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	11/16			chr12	TogoVar
CEP83_chr12_94302698_94464867	94376690	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA18988.hp1 NA18997.hp2 others(3): Show HG02273.hp2 NA18988.hp1 NA18997.hp2 NA19003.hp2 NA19070.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0006g0004 others(3): Show a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0006g0004 a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0006g0007	6	364	0.0165	6	c.802 others(21): Show c.802-679_802-674dupGTGTGT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	7/16			chr12	TogoVar
CEP83_chr12_94302698_94464867	94376690	T T	TATACAC TATACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01070.hp2 HG01192.hp1 others(24): Show HG00621.hp2 HG01070.hp2 HG01192.hp1 HG01257.hp2 HG01433.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01981.hp2 HG02040.hp2 HG02165.hp2 HG02523.hp2 HG02630.hp1 HG03239.hp1 HG03486.hp2 HG03492.hp2 HG03654.hp1 HG03831.hp1 HG04184.hp1 NA18522.hp2 NA18961.hp2 NA18985.hp2 NA18998.hp2 NA19056.hp2 NA19086.hp2 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0038 a0001c0001t0001g0067 a0001c0001t0001g0135 others(24): Show a0001c0001t0001g0038 a0001c0001t0001g0067 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0205 a0001c0001t0001g0247 a0001c0001t0001g0257 a0001c0001t0001g0323 a0001c0001t0003g0338 a0001c0001t0003g0351	27	364	0.0742	6	c.802 others(21): Show c.802-674_802-673insGTGTAT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	7/16			chr12	TogoVar
CEP85L_chr6_118455772_118656591	118460150	C C	CAAAAAA CAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00733.hp2 HG01109.hp1 others(25): Show HG00639.hp2 HG00733.hp2 HG01109.hp1 HG01891.hp2 HG01934.hp1 HG02257.hp1 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02735.hp1 HG02818.hp1 HG02896.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp1 HG03942.hp1 NA18966.hp2 NA18972.hp2 NA19240.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0014 others(3): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0014 a0002c0002t0024 a0002c0002t0025 a0002c0002t0028	a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0189 others(25): Show a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0189 a0002c0002t0002g0260 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0281 a0002c0002t0005g0261 a0002c0002t0005g0262 a0002c0002t0005g0264 a0002c0002t0005g0265 a0002c0002t0005g0266 a0002c0002t0005g0267 a0002c0002t0005g0268 a0002c0002t0005g0269 a0002c0002t0005g0270 a0002c0002t0005g0271 a0002c0002t0005g0277 a0002c0002t0005g0283 a0002c0002t0005g0284 a0002c0002t0005g0285 a0002c0002t0014g0275 a0002c0002t0014g0276 a0002c0002t0024g0272 a0002c0002t0025g0282 a0002c0002t0028g0293	28	302	0.0927	6	c.52 others(17): Show c.5254_*5255insTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding		621		chr6	TogoVar
CEP85L_chr6_118455772_118656591	118491196	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01346.hp2 HG01943.hp1 others(18): Show HG00099.hp1 HG01346.hp2 HG01943.hp1 HG02004.hp1 HG02074.hp1 HG02083.hp1 HG02132.hp2 HG02293.hp1 HG02293.hp2 HG02615.hp2 HG02723.hp2 HG02896.hp1 HG02897.hp1 HG03139.hp2 HG03516.hp2 NA18955.hp2 NA18974.hp2 NA18979.hp1 NA19002.hp2 NA19081.hp1 NA20300.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0003c0003 a0010c0010 a0001c0001 a0003c0003 a0010c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0003c0003t0003 a0010c0010t0003	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(18): Show a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0140 a0001c0001t0001g0164 a0001c0001t0004g0084 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0092 a0001c0001t0004g0099 a0001c0001t0007g0091 a0001c0001t0007g0093 a0001c0001t0007g0094 a0003c0003t0003g0004 a0003c0003t0003g0018 a0010c0010t0003g0015	21	302	0.0695	6	c.143 others(23): Show c.1437+484_1437+489dupGTGTGT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	6/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118505409	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01515.hp2 HG02145.hp1 others(18): Show HG00741.hp1 HG01515.hp2 HG02145.hp1 HG02647.hp2 HG02683.hp2 HG02809.hp1 HG02965.hp1 HG02976.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03834.hp1 HG04204.hp2 NA18522.hp1 NA18964.hp2 NA18978.hp1 NA18981.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0026 a0002c0002t0031 a0002c0002t0002 a0002c0002t0026 a0002c0002t0031	a0002c0002t0002g0177 a0002c0002t0002g0183 a0002c0002t0002g0189 others(18): Show a0002c0002t0002g0177 a0002c0002t0002g0183 a0002c0002t0002g0189 a0002c0002t0002g0192 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0224 a0002c0002t0002g0226 a0002c0002t0002g0230 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0258 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0026g0185 a0002c0002t0031g0302	21	302	0.0695	6	c.125 others(25): Show c.1257+5883_1257+5888dupTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	5/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118519432	C C	CTGTGTG CTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00597.hp2 others(34): Show HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00733.hp2 HG00741.hp2 HG01255.hp1 HG01358.hp2 HG01361.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG02074.hp1 HG02083.hp2 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02273.hp1 HG02293.hp1 HG02886.hp2 HG02965.hp1 HG03490.hp1 HG03540.hp1 HG03540.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 NA18955.hp2 NA18975.hp2 NA18978.hp2 NA18989.hp2 NA18990.hp2 NA19077.hp2 NA19091.hp1 NA19091.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0008 a0009	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0007c0007 a0008c0013 a0009c0008	a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 a0002c0002t0026 a0003c0003t0002 a0007c0007t0013 a0008c0013t0001 a0009c0008t0022	a0001c0001t0001g0066 a0001c0001t0001g0108 a0001c0001t0001g0109 others(34): Show a0001c0001t0001g0066 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0004g0072 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0088 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0101 a0002c0002t0002g0177 a0002c0002t0002g0179 a0002c0002t0002g0199 a0002c0002t0002g0260 a0002c0002t0026g0185 a0003c0003t0002g0232 a0007c0007t0013g0180 a0008c0013t0001g0071 a0009c0008t0022g0112	37	302	0.1225	6	c.113 others(25): Show c.1139+4364_1139+4369dupCACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	4/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118519474	G G	GTGTGGC GTGTGGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02572.hp1 NA18945.hp2 others(2): Show HG00323.hp1 HG02572.hp1 NA18945.hp2 NA18957.hp1 NA19074.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0006 a0002c0002 a0006c0006	a0002c0002t0002 a0006c0006t0009 a0002c0002t0002 a0006c0006t0009	a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0190 others(2): Show a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0190 a0002c0002t0002g0201 a0006c0006t0009g0289	5	302	0.0166	6	c.113 others(25): Show c.1139+4327_1139+4328insGCCACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	4/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118558626	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG01255.hp1 others(34): Show HG00323.hp1 HG00408.hp2 HG01255.hp1 HG01358.hp1 HG01515.hp2 HG01934.hp1 HG02027.hp2 HG02129.hp1 HG02257.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02683.hp2 HG02698.hp2 HG03017.hp2 HG03540.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp1 NA18522.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18957.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18972.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18989.hp1 NA18999.hp1 NA19005.hp1 NA19074.hp2 NA19077.hp2 NA19084.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0012 a0003c0003 a0002c0002 a0002c0012 a0003c0003	a0002c0002t0002 a0002c0002t0005 a0002c0002t0024 others(3): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0024 a0002c0002t0028 a0002c0012t0005 a0003c0003t0002	a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0179 others(34): Show a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0179 a0002c0002t0002g0190 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0196 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0207 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0214 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0220 a0002c0002t0002g0222 a0002c0002t0002g0224 a0002c0002t0002g0227 a0002c0002t0002g0230 a0002c0002t0002g0234 a0002c0002t0002g0239 a0002c0002t0005g0264 a0002c0002t0005g0266 a0002c0002t0005g0267 a0002c0002t0005g0268 a0002c0002t0005g0269 a0002c0002t0005g0270 a0002c0002t0024g0272 a0002c0002t0028g0293 a0002c0012t0005g0263 a0003c0003t0002g0223 a0003c0003t0002g0232	37	302	0.1225	6	c.102 others(25): Show c.1020+6897_1020+6902dupGTGTGT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118595274	C C	CTCATTG CTCATTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(165): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02074.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18951.hp1 NA18957.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18999.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19012.hp2 NA19030.hp1 NA19062.hp2 NA19074.hp2 NA19077.hp2 NA19081.hp2 NA19084.hp1 NA19086.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0005 others(4): Show a0002 a0003 a0005 a0006 a0007 a0010 a0011	a0002c0002 a0002c0012 a0003c0003 others(5): Show a0002c0002 a0002c0012 a0003c0003 a0005c0005 a0006c0006 a0007c0007 a0010c0010 a0011c0011	a0002c0002t0002 a0002c0002t0005 a0002c0002t0014 others(20): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0014 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0027 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0031 a0002c0012t0005 a0003c0003t0002 a0003c0003t0003 a0003c0003t0016 a0005c0005t0008 a0005c0005t0015 a0006c0006t0009 a0006c0006t0021 a0007c0007t0011 a0007c0007t0013 a0010c0010t0003 a0011c0011t0008	a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 others(165): Show a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0249 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0290 a0002c0002t0005g0261 a0002c0002t0005g0262 a0002c0002t0005g0264 a0002c0002t0005g0265 a0002c0002t0005g0266 a0002c0002t0005g0267 a0002c0002t0005g0268 a0002c0002t0005g0269 a0002c0002t0005g0270 a0002c0002t0005g0271 a0002c0002t0005g0277 a0002c0002t0005g0283 a0002c0002t0005g0284 a0002c0002t0005g0285 a0002c0002t0014g0275 a0002c0002t0014g0276 a0002c0002t0024g0272 a0002c0002t0025g0282 a0002c0002t0026g0185 a0002c0002t0027g0186 a0002c0002t0028g0293 a0002c0002t0029g0210 a0002c0002t0030g0182 a0002c0002t0031g0302 a0002c0012t0005g0263 a0003c0003t0002g0219 a0003c0003t0002g0223 a0003c0003t0002g0232 a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0003 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0006 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0009 a0003c0003t0003g0010 a0003c0003t0003g0012 a0003c0003t0003g0013 a0003c0003t0003g0014 a0003c0003t0003g0016 a0003c0003t0003g0017 a0003c0003t0003g0018 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0021 a0003c0003t0003g0022 a0003c0003t0003g0023 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0029 a0003c0003t0003g0030 a0003c0003t0003g0031 a0003c0003t0003g0032 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0039 a0003c0003t0003g0040 a0003c0003t0016g0011 a0005c0005t0008g0250 a0005c0005t0008g0251 a0005c0005t0008g0252 a0005c0005t0008g0286 a0005c0005t0008g0287 a0005c0005t0008g0295 a0005c0005t0008g0296 a0005c0005t0008g0297 a0005c0005t0008g0298 a0005c0005t0015g0300 a0005c0005t0015g0301 a0006c0006t0009g0244 a0006c0006t0009g0246 a0006c0006t0009g0247 a0006c0006t0009g0248 a0006c0006t0009g0288 a0006c0006t0009g0289 a0006c0006t0009g0291 a0006c0006t0009g0292 a0006c0006t0021g0245 a0007c0007t0011g0253 a0007c0007t0011g0254 a0007c0007t0011g0255 a0007c0007t0011g0256 a0007c0007t0013g0180 a0007c0007t0013g0181 a0010c0010t0003g0015 a0011c0011t0008g0294	168	302	0.5563	6	c.233 others(25): Show c.233-28964_233-28959dupCAATGA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600370	T T	TGTGTGG TGTGTGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01934.hp1 HG02486.hp1 others(2): Show HG01884.hp1 HG01934.hp1 HG02486.hp1 HG03486.hp2 NA18972.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0002 a0002c0002t0005	a0002c0002t0002g0241 a0002c0002t0002g0243 a0002c0002t0005g0264 others(2): Show a0002c0002t0002g0241 a0002c0002t0002g0243 a0002c0002t0005g0264 a0002c0002t0005g0267 a0002c0002t0005g0268	5	302	0.0166	6	c.232 others(25): Show c.232+32082_232+32083insCCACAC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118613757	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp2 others(109): Show HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02074.hp2 HG02129.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02896.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04228.hp2 NA18522.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18951.hp1 NA18951.hp2 NA18957.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18990.hp1 NA18992.hp1 NA18999.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19240.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0007 a0010 a0011	a0001c0001 a0002c0002 a0002c0012 others(5): Show a0001c0001 a0002c0002 a0002c0012 a0003c0003 a0005c0005 a0007c0007 a0010c0010 a0011c0011	a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 others(16): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 a0002c0002t0002 a0002c0002t0005 a0002c0002t0014 a0002c0002t0024 a0002c0002t0025 a0002c0002t0029 a0002c0002t0030 a0002c0012t0005 a0003c0003t0002 a0003c0003t0003 a0005c0005t0008 a0005c0005t0015 a0007c0007t0019 a0007c0007t0020 a0010c0010t0003 a0011c0011t0008	a0001c0001t0001g0106 a0001c0001t0001g0126 a0001c0001t0001g0134 others(109): Show a0001c0001t0001g0106 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0160 a0001c0001t0001g0171 a0001c0001t0010g0079 a0001c0001t0012g0063 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0187 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0200 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0249 a0002c0002t0002g0257 a0002c0002t0002g0260 a0002c0002t0002g0274 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0005g0261 a0002c0002t0005g0262 a0002c0002t0005g0264 a0002c0002t0005g0265 a0002c0002t0005g0266 a0002c0002t0005g0267 a0002c0002t0005g0268 a0002c0002t0005g0269 a0002c0002t0005g0271 a0002c0002t0005g0277 a0002c0002t0005g0283 a0002c0002t0005g0284 a0002c0002t0005g0285 a0002c0002t0014g0275 a0002c0002t0014g0276 a0002c0002t0024g0272 a0002c0002t0025g0282 a0002c0002t0029g0210 a0002c0002t0030g0182 a0002c0012t0005g0263 a0003c0003t0002g0219 a0003c0003t0002g0223 a0003c0003t0002g0232 a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0003 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0006 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0009 a0003c0003t0003g0010 a0003c0003t0003g0012 a0003c0003t0003g0013 a0003c0003t0003g0014 a0003c0003t0003g0016 a0003c0003t0003g0017 a0003c0003t0003g0018 a0003c0003t0003g0020 a0003c0003t0003g0022 a0003c0003t0003g0023 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0029 a0003c0003t0003g0030 a0003c0003t0003g0031 a0003c0003t0003g0032 a0003c0003t0003g0033 a0003c0003t0003g0036 a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0040 a0005c0005t0008g0250 a0005c0005t0008g0251 a0005c0005t0008g0252 a0005c0005t0008g0286 a0005c0005t0008g0287 a0005c0005t0008g0295 a0005c0005t0008g0296 a0005c0005t0008g0297 a0005c0005t0008g0298 a0005c0005t0015g0300 a0005c0005t0015g0301 a0007c0007t0019g0299 a0007c0007t0020g0176 a0010c0010t0003g0015 a0011c0011t0008g0294	112	302	0.3709	6	c.232 others(25): Show c.232+18690_232+18695dupTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118653749	A A	ATGTGTG ATGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02965.hp2 HG03130.hp1 others(2): Show HG02451.hp1 HG02965.hp2 HG03130.hp1 HG03195.hp1 HG03942.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0007 a0002c0002 a0007c0007	a0002c0002t0005 a0007c0007t0011 a0002c0002t0005 a0007c0007t0011	a0002c0002t0005g0266 a0007c0007t0011g0253 a0007c0007t0011g0254 others(2): Show a0002c0002t0005g0266 a0007c0007t0011g0253 a0007c0007t0011g0254 a0007c0007t0011g0255 a0007c0007t0011g0256	5	302	0.0166	6	c.-24 others(17): Show c.-2486_-2481dupCACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding		2159		chr6	TogoVar
CEP85_chr1_26229200_26283808	26231666	C C	CTGTGTG CTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02257.hp2 HG02615.hp1 others(3): Show HG00639.hp1 HG02257.hp2 HG02615.hp1 HG03516.hp1 NA18906.hp2 NA19043.hp1	a0004 a0004	a0004c0004 a0004c0011 a0004c0004 a0004c0011	a0004c0004t0003 a0004c0004t0008 a0004c0011t0008 a0004c0004t0003 a0004c0004t0008 a0004c0011t0008	a0004c0004t0003g0292 a0004c0004t0003g0295 a0004c0004t0003g0296 others(3): Show a0004c0004t0003g0292 a0004c0004t0003g0295 a0004c0004t0003g0296 a0004c0004t0008g0293 a0004c0004t0008g0294 a0004c0011t0008g0291	6	342	0.0175	6	c.-26 others(17): Show c.-2667_-2666insTGTGTG	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding		2533		chr1	TogoVar
CEP85_chr1_26229200_26283808	26238202	C C	CTTTTTT CTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(25): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00733.hp1 HG00741.hp1 HG01069.hp1 HG01074.hp2 HG01167.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG02004.hp2 HG02486.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp1 HG03491.hp1 HG03492.hp2 HG03710.hp2 HG04115.hp1 HG04199.hp1 NA18522.hp2 NA19030.hp2 NA19080.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0003c0003 a0003c0005 others(3): Show a0001c0001 a0003c0003 a0003c0005 a0003c0007 a0003c0008 a0010c0017	a0001c0001t0001 a0001c0001t0003 a0003c0003t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0003c0003t0004 a0003c0003t0006 a0003c0005t0004 a0003c0007t0004 a0003c0008t0004 a0010c0017t0004	a0001c0001t0001g0178 a0001c0001t0001g0299 a0001c0001t0003g0103 others(25): Show a0001c0001t0001g0178 a0001c0001t0001g0299 a0001c0001t0003g0103 a0003c0003t0004g0300 a0003c0003t0004g0302 a0003c0003t0004g0303 a0003c0003t0004g0304 a0003c0003t0004g0305 a0003c0003t0004g0307 a0003c0003t0004g0310 a0003c0003t0004g0311 a0003c0003t0004g0312 a0003c0003t0004g0313 a0003c0003t0004g0314 a0003c0003t0004g0317 a0003c0003t0004g0319 a0003c0003t0004g0325 a0003c0003t0006g0093 a0003c0003t0006g0094 a0003c0003t0006g0095 a0003c0003t0006g0096 a0003c0005t0004g0322 a0003c0005t0004g0323 a0003c0007t0004g0320 a0003c0007t0004g0321 a0003c0008t0004g0308 a0003c0008t0004g0309 a0010c0017t0004g0306	28	342	0.0819	6	c.-22 others(23): Show c.-22-1549_-22-1544dupTTTTTT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP85_chr1_26229200_26283808	26248722	C C	CTTTTTT CTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp1 HG03486.hp2 others(5): Show HG00323.hp2 HG00741.hp1 HG03486.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18522.hp2 NA19080.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0003c0003 a0010c0017 a0001c0001 a0003c0003 a0010c0017	a0001c0001t0001 a0001c0001t0003 a0003c0003t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0003c0003t0004 a0010c0017t0004	a0001c0001t0001g0315 a0001c0001t0003g0107 a0003c0003t0004g0307 others(5): Show a0001c0001t0001g0315 a0001c0001t0003g0107 a0003c0003t0004g0307 a0003c0003t0004g0312 a0003c0003t0004g0314 a0003c0003t0004g0316 a0003c0003t0004g0325 a0010c0017t0004g0306	8	342	0.0234	6	c.208 others(23): Show c.208+4421_208+4426dupTTTTTT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP85_chr1_26229200_26283808	26272617	A A	ATTTTTT ATTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG03516.hp1 NA18906.hp2 others(8): Show HG02293.hp2 HG03516.hp1 NA18906.hp2 NA18946.hp2 NA18949.hp2 NA18972.hp1 NA18986.hp1 NA19012.hp1 NA19043.hp1 NA19067.hp1 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0003 a0004c0004t0003 a0004c0004t0008 a0001c0001t0003 a0004c0004t0003 a0004c0004t0008	a0001c0001t0003g0104 a0001c0001t0003g0127 a0001c0001t0003g0128 others(8): Show a0001c0001t0003g0104 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0158 a0001c0001t0003g0160 a0001c0001t0003g0164 a0004c0004t0003g0295 a0004c0004t0008g0293 a0004c0004t0008g0294	11	342	0.0322	6	c.179 others(23): Show c.1794+568_1794+573dupTTTTTT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP85_chr1_26229200_26283808	26273931	A A	AATAAAT AATAAAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02486.hp2 HG02647.hp1 others(2): Show HG00741.hp1 HG02486.hp2 HG02647.hp1 HG03195.hp1 HG03486.hp2	a0003 a0003	a0003c0003 a0003c0005 a0003c0007 a0003c0003 a0003c0005 a0003c0007	a0003c0003t0004 a0003c0005t0004 a0003c0007t0004 a0003c0003t0004 a0003c0005t0004 a0003c0007t0004	a0003c0003t0004g0312 a0003c0003t0004g0316 a0003c0005t0004g0297 others(2): Show a0003c0003t0004g0312 a0003c0003t0004g0316 a0003c0005t0004g0297 a0003c0007t0004g0320 a0003c0007t0004g0321	5	342	0.0146	6	c.179 others(25): Show c.1795-1032_1795-1031insTAAATA	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP85_chr1_26229200_26283808	26282304	G G	GGGGGCT GGGGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02257.hp2 HG02615.hp1 others(4): Show HG00639.hp1 HG02257.hp2 HG02615.hp1 HG02723.hp1 HG03516.hp1 NA18906.hp2 NA19043.hp1	a0004 a0004	a0004c0004 a0004c0010 a0004c0011 a0004c0004 a0004c0010 a0004c0011	a0004c0004t0003 a0004c0004t0008 a0004c0010t0003 others(1): Show a0004c0004t0003 a0004c0004t0008 a0004c0010t0003 a0004c0011t0008	a0004c0004t0003g0292 a0004c0004t0003g0295 a0004c0004t0003g0296 others(4): Show a0004c0004t0003g0292 a0004c0004t0003g0295 a0004c0004t0003g0296 a0004c0004t0008g0293 a0004c0004t0008g0294 a0004c0010t0003g0290 a0004c0011t0008g0291	7	342	0.0205	6	c.50 others(17): Show c.5011_*5012insGGGGCT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding		3497		chr1	TogoVar
CEP89_chr19_32870925_32976958	32881307	G G	GTAATAA GTAATAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA18747.hp2 NA18979.hp1 others(1): Show HG00323.hp2 NA18747.hp2 NA18979.hp1 NA19078.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0206 a0001c0004t0001g0207 a0001c0004t0001g0208 others(1): Show a0001c0004t0001g0206 a0001c0004t0001g0207 a0001c0004t0001g0208 a0001c0004t0001g0209	4	386	0.0104	6	c.213 others(23): Show c.2135+531_2135+536dupTTATTA	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	18/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32891343	G G	GCACACA GCACACA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02132.hp2 HG02165.hp1 others(14): Show HG02056.hp2 HG02132.hp2 HG02165.hp1 HG02559.hp2 HG02738.hp2 HG04204.hp1 NA18944.hp2 NA18949.hp2 NA18955.hp1 NA18977.hp2 NA18980.hp1 NA18984.hp1 NA19003.hp1 NA19004.hp2 NA19012.hp1 NA19057.hp1 NA19083.hp1	a0000 a0000	a0000c0007 a0000c0012 a0000c0007 a0000c0012	a0000c0007t0004 a0000c0007t0033 a0000c0012t0004 a0000c0007t0004 a0000c0007t0033 a0000c0012t0004	a0000c0007t0004g0078 a0000c0007t0004g0280 a0000c0007t0004g0281 others(14): Show a0000c0007t0004g0078 a0000c0007t0004g0280 a0000c0007t0004g0281 a0000c0007t0004g0282 a0000c0007t0004g0283 a0000c0007t0004g0284 a0000c0007t0004g0285 a0000c0007t0004g0286 a0000c0007t0004g0287 a0000c0007t0004g0288 a0000c0007t0004g0289 a0000c0007t0004g0290 a0000c0007t0004g0291 a0000c0007t0004g0293 a0000c0007t0004g0294 a0000c0007t0033g0295 a0000c0012t0004g0065	17	386	0.0440	6	c.187 others(25): Show c.1876-3508_1876-3503dupTGTGTG	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	16/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32892202	C C	CATATAT CATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02056.hp2 NA18960.hp2 others(5): Show HG01074.hp2 HG02056.hp2 NA18960.hp2 NA18967.hp1 NA19003.hp2 NA19078.hp2 NA19087.hp1 NA19091.hp1	a0000 a0001 a0000 a0001	a0000c0007 a0001c0002 a0000c0007 a0001c0002	a0000c0007t0004 a0001c0002t0001 a0000c0007t0004 a0001c0002t0001	a0000c0007t0004g0277 a0000c0007t0004g0281 a0001c0002t0001g0025 others(5): Show a0000c0007t0004g0277 a0000c0007t0004g0281 a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0041 a0001c0002t0001g0060	8	386	0.0207	6	c.187 others(25): Show c.1876-4367_1876-4362dupATATAT	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	16/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32899131	A A	ATTTCCT ATTTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(131): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00609.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02145.hp2 HG02155.hp2 HG02280.hp2 HG02293.hp1 HG02486.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18949.hp1 NA18953.hp2 NA18959.hp1 NA18961.hp1 NA18967.hp2 NA18974.hp1 NA18979.hp2 NA18983.hp1 NA18993.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19074.hp2 NA19079.hp1 NA19081.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(8): Show a0000 a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0011 a0012	a0000c0005 a0001c0002 a0002c0001 others(11): Show a0000c0005 a0001c0002 a0002c0001 a0003c0003 a0003c0010 a0003c0019 a0003c0021 a0004c0006 a0005c0008 a0006c0009 a0009c0023 a0010c0020 a0011c0018 a0012c0017	a0000c0005t0005 a0000c0005t0019 a0000c0005t0020 others(31): Show a0000c0005t0005 a0000c0005t0019 a0000c0005t0020 a0000c0005t0041 a0000c0005t0042 a0001c0002t0024 a0001c0002t0043 a0002c0001t0002 a0003c0003t0003 a0003c0003t0010 a0003c0003t0013 a0003c0003t0034 a0003c0003t0035 a0003c0003t0036 a0003c0003t0037 a0003c0003t0038 a0003c0003t0039 a0003c0003t0040 a0003c0010t0002 a0003c0010t0014 a0003c0010t0029 a0003c0019t0012 a0003c0021t0022 a0004c0006t0007 a0004c0006t0009 a0004c0006t0011 a0004c0006t0027 a0004c0006t0032 a0005c0008t0006 a0006c0009t0011 a0009c0023t0007 a0010c0020t0003 a0011c0018t0003 a0012c0017t0003	a0000c0005t0005g0097 a0000c0005t0005g0098 a0000c0005t0005g0099 others(130): Show a0000c0005t0005g0097 a0000c0005t0005g0098 a0000c0005t0005g0099 a0000c0005t0005g0100 a0000c0005t0005g0101 a0000c0005t0005g0102 a0000c0005t0005g0104 a0000c0005t0005g0106 a0000c0005t0005g0108 a0000c0005t0005g0110 a0000c0005t0005g0112 a0000c0005t0005g0115 a0000c0005t0005g0116 a0000c0005t0005g0117 a0000c0005t0005g0119 a0000c0005t0005g0120 a0000c0005t0005g0164 a0000c0005t0005g0268 a0000c0005t0019g0113 a0000c0005t0019g0114 a0000c0005t0020g0107 a0000c0005t0020g0121 a0000c0005t0041g0111 a0000c0005t0042g0109 a0001c0002t0024g0072 a0001c0002t0043g0118 a0002c0001t0002g0311 a0003c0003t0003g0003 a0003c0003t0003g0077 a0003c0003t0003g0080 a0003c0003t0003g0211 a0003c0003t0003g0212 a0003c0003t0003g0213 a0003c0003t0003g0214 a0003c0003t0003g0215 a0003c0003t0003g0216 a0003c0003t0003g0217 a0003c0003t0003g0219 a0003c0003t0003g0221 a0003c0003t0003g0222 a0003c0003t0003g0223 a0003c0003t0003g0224 a0003c0003t0003g0225 a0003c0003t0003g0226 a0003c0003t0003g0227 a0003c0003t0003g0228 a0003c0003t0003g0230 a0003c0003t0003g0232 a0003c0003t0003g0233 a0003c0003t0003g0235 a0003c0003t0003g0236 a0003c0003t0003g0238 a0003c0003t0003g0239 a0003c0003t0003g0241 a0003c0003t0003g0242 a0003c0003t0003g0243 a0003c0003t0003g0244 a0003c0003t0003g0245 a0003c0003t0003g0248 a0003c0003t0003g0249 a0003c0003t0003g0250 a0003c0003t0003g0251 a0003c0003t0003g0252 a0003c0003t0003g0253 a0003c0003t0003g0254 a0003c0003t0003g0255 a0003c0003t0003g0256 a0003c0003t0003g0257 a0003c0003t0003g0258 a0003c0003t0003g0260 a0003c0003t0003g0261 a0003c0003t0003g0262 a0003c0003t0003g0263 a0003c0003t0003g0273 a0003c0003t0003g0306 a0003c0003t0003g0365 a0003c0003t0010g0218 a0003c0003t0013g0220 a0003c0003t0013g0271 a0003c0003t0013g0272 a0003c0003t0034g0076 a0003c0003t0035g0259 a0003c0003t0036g0264 a0003c0003t0037g0247 a0003c0003t0038g0229 a0003c0003t0039g0237 a0003c0003t0040g0231 a0003c0010t0002g0105 a0003c0010t0014g0168 a0003c0010t0014g0366 a0003c0010t0029g0307 a0003c0019t0012g0364 a0003c0021t0022g0266 a0004c0006t0007g0086 a0004c0006t0007g0128 a0004c0006t0007g0129 a0004c0006t0007g0132 a0004c0006t0007g0133 a0004c0006t0007g0134 a0004c0006t0007g0135 a0004c0006t0007g0147 a0004c0006t0007g0274 a0004c0006t0009g0136 a0004c0006t0009g0137 a0004c0006t0009g0138 a0004c0006t0009g0139 a0004c0006t0009g0141 a0004c0006t0009g0142 a0004c0006t0009g0146 a0004c0006t0009g0270 a0004c0006t0011g0143 a0004c0006t0027g0140 a0004c0006t0032g0127 a0005c0008t0006g0087 a0005c0008t0006g0088 a0005c0008t0006g0089 a0005c0008t0006g0090 a0005c0008t0006g0091 a0005c0008t0006g0092 a0005c0008t0006g0093 a0005c0008t0006g0094 a0005c0008t0006g0095 a0005c0008t0006g0096 a0005c0008t0006g0210 a0005c0008t0006g0308 a0006c0009t0011g0123 a0006c0009t0011g0124 a0006c0009t0011g0125 a0006c0009t0011g0312 a0009c0023t0007g0130 a0010c0020t0003g0122 a0011c0018t0003g0240 a0012c0017t0003g0267	134	386	0.3472	6	c.187 others(23): Show c.1875+725_1875+726insAGGAAA	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	16/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32900888	C C	CTTTTTT CTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp1 others(110): Show HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01515.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02015.hp2 HG02040.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02735.hp1 HG02922.hp1 HG03098.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03669.hp1 HG03704.hp2 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19054.hp1 NA19055.hp1 NA19058.hp1 NA19060.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19075.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp1	a0000 a0001 a0002 others(2): Show a0000 a0001 a0002 a0008 a0014	a0000c0012 a0001c0002 a0001c0004 others(4): Show a0000c0012 a0001c0002 a0001c0004 a0001c0016 a0002c0001 a0008c0015 a0014c0022	a0000c0012t0004 a0001c0002t0001 a0001c0002t0015 others(8): Show a0000c0012t0004 a0001c0002t0001 a0001c0002t0015 a0001c0002t0016 a0001c0002t0028 a0001c0004t0001 a0001c0004t0002 a0001c0016t0030 a0002c0001t0001 a0008c0015t0001 a0014c0022t0001	a0000c0012t0004g0065 a0001c0002t0001g0001 a0001c0002t0001g0002 others(107): Show a0000c0012t0004g0065 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0357 a0001c0002t0015g0021 a0001c0002t0015g0044 a0001c0002t0016g0023 a0001c0002t0028g0054 a0001c0004t0001g0074 a0001c0004t0001g0075 a0001c0004t0001g0145 a0001c0004t0001g0166 a0001c0004t0001g0167 a0001c0004t0001g0169 a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0172 a0001c0004t0001g0173 a0001c0004t0001g0174 a0001c0004t0001g0175 a0001c0004t0001g0176 a0001c0004t0001g0177 a0001c0004t0001g0178 a0001c0004t0001g0179 a0001c0004t0001g0180 a0001c0004t0001g0182 a0001c0004t0001g0183 a0001c0004t0001g0184 a0001c0004t0001g0185 a0001c0004t0001g0186 a0001c0004t0001g0187 a0001c0004t0001g0188 a0001c0004t0001g0189 a0001c0004t0001g0190 a0001c0004t0001g0191 a0001c0004t0001g0192 a0001c0004t0001g0193 a0001c0004t0001g0194 a0001c0004t0001g0195 a0001c0004t0001g0197 a0001c0004t0001g0198 a0001c0004t0001g0199 a0001c0004t0001g0200 a0001c0004t0001g0201 a0001c0004t0001g0202 a0001c0004t0001g0203 a0001c0004t0001g0204 a0001c0004t0001g0205 a0001c0004t0001g0206 a0001c0004t0001g0207 a0001c0004t0001g0208 a0001c0004t0002g0181 a0001c0016t0030g0055 a0002c0001t0001g0350 a0008c0015t0001g0081 a0014c0022t0001g0196	113	386	0.2928	6	c.173 others(23): Show c.1733+351_1733+356dupAAAAAA	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	15/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32902010	C C	CTGTGTG CTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03041.hp1 HG03209.hp1 others(1): Show HG02922.hp2 HG03041.hp1 HG03209.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0149 a0001c0002t0010g0376 a0001c0002t0010g0377 others(1): Show a0001c0002t0010g0149 a0001c0002t0010g0376 a0001c0002t0010g0377 a0001c0002t0010g0378	4	386	0.0104	6	c.156 others(23): Show c.1566-604_1566-599dupCACACA	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	14/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32910265	C C	CAGAGAG CAGAGAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01106.hp2 HG02602.hp2 others(4): Show HG01074.hp1 HG01106.hp2 HG02602.hp2 HG02717.hp2 HG02818.hp1 HG03688.hp1 HG04199.hp1	a0000 a0002 a0013 a0000 a0002 a0013	a0000c0005 a0002c0001 a0013c0024 a0000c0005 a0002c0001 a0013c0024	a0000c0005t0005 a0002c0001t0002 a0002c0001t0017 others(1): Show a0000c0005t0005 a0002c0001t0002 a0002c0001t0017 a0013c0024t0002	a0000c0005t0005g0103 a0002c0001t0002g0325 a0002c0001t0002g0329 others(4): Show a0000c0005t0005g0103 a0002c0001t0002g0325 a0002c0001t0002g0329 a0002c0001t0002g0330 a0002c0001t0002g0334 a0002c0001t0017g0354 a0013c0024t0002g0324	7	386	0.0181	6	c.156 others(25): Show c.1565+5066_1565+5071dupCTCTCT	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	14/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32951532	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp2 HG01167.hp1 others(5): Show HG00642.hp2 HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG04228.hp1 NA19010.hp1 NA19043.hp2	a0000 a0001 a0004 a0000 a0001 a0004	a0000c0005 a0001c0004 a0004c0006 a0000c0005 a0001c0004 a0004c0006	a0000c0005t0005 a0001c0004t0001 a0004c0006t0011 a0000c0005t0005 a0001c0004t0001 a0004c0006t0011	a0000c0005t0005g0268 a0000c0005t0005g0269 a0001c0004t0001g0075 others(5): Show a0000c0005t0005g0268 a0000c0005t0005g0269 a0001c0004t0001g0075 a0001c0004t0001g0195 a0001c0004t0001g0197 a0001c0004t0001g0198 a0001c0004t0001g0200 a0004c0006t0011g0143	8	386	0.0207	6	c.492 others(23): Show c.492+2082_492+2083insGTGTGT	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	4/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32951534	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG01358.hp2 others(11): Show HG00741.hp1 HG01243.hp1 HG01358.hp2 HG02698.hp1 HG02738.hp1 HG02818.hp2 HG02897.hp2 HG03516.hp1 HG03654.hp2 HG03942.hp1 HG04199.hp2 NA18522.hp1 NA18947.hp2 NA18986.hp1	a0000 a0001 a0003 others(1): Show a0000 a0001 a0003 a0005	a0000c0005 a0001c0004 a0003c0010 others(1): Show a0000c0005 a0001c0004 a0003c0010 a0005c0008	a0000c0005t0005 a0000c0005t0019 a0000c0005t0041 others(3): Show a0000c0005t0005 a0000c0005t0019 a0000c0005t0041 a0001c0004t0001 a0003c0010t0002 a0005c0008t0006	a0000c0005t0005g0099 a0000c0005t0005g0100 a0000c0005t0005g0102 others(11): Show a0000c0005t0005g0099 a0000c0005t0005g0100 a0000c0005t0005g0102 a0000c0005t0005g0108 a0000c0005t0005g0112 a0000c0005t0005g0117 a0000c0005t0005g0164 a0000c0005t0019g0114 a0000c0005t0041g0111 a0001c0004t0001g0184 a0001c0004t0001g0185 a0003c0010t0002g0105 a0005c0008t0006g0090 a0005c0008t0006g0095	14	386	0.0363	6	c.492 others(23): Show c.492+2075_492+2080dupGTGTGT	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	4/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32951534	T T	TATACAC TATACAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18959.hp2 NA19074.hp2 HG00609.hp1 NA18959.hp2 NA19074.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0004 a0004c0006 a0009c0023 a0001c0004 a0004c0006 a0009c0023	a0001c0004t0001 a0004c0006t0007 a0009c0023t0007 a0001c0004t0001 a0004c0006t0007 a0009c0023t0007	a0001c0004t0001g0170 a0004c0006t0007g0135 a0009c0023t0007g0130 a0001c0004t0001g0170 a0004c0006t0007g0135 a0009c0023t0007g0130	3	386	0.0078	6	c.492 others(23): Show c.492+2080_492+2081insGTGTAT	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	4/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32963892	C C	CCACACA CCACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00738.hp2 others(43): Show HG00099.hp2 HG00280.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01928.hp2 HG01952.hp2 HG02698.hp1 HG02738.hp1 HG03098.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 NA18522.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18969.hp2 NA18972.hp2 NA18982.hp2 NA18983.hp2 NA18994.hp2 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19030.hp2 NA19055.hp1 NA19058.hp1 NA19075.hp2 NA19082.hp2	a0000 a0001 a0003 a0000 a0001 a0003	a0000c0005 a0000c0012 a0001c0002 others(1): Show a0000c0005 a0000c0012 a0001c0002 a0003c0010	a0000c0005t0005 a0000c0005t0019 a0000c0005t0020 others(5): Show a0000c0005t0005 a0000c0005t0019 a0000c0005t0020 a0000c0005t0041 a0000c0005t0042 a0000c0012t0004 a0001c0002t0001 a0003c0010t0002	a0000c0005t0005g0098 a0000c0005t0005g0099 a0000c0005t0005g0100 others(40): Show a0000c0005t0005g0098 a0000c0005t0005g0099 a0000c0005t0005g0100 a0000c0005t0005g0101 a0000c0005t0005g0102 a0000c0005t0005g0103 a0000c0005t0005g0104 a0000c0005t0005g0106 a0000c0005t0005g0108 a0000c0005t0005g0110 a0000c0005t0005g0112 a0000c0005t0005g0115 a0000c0005t0005g0116 a0000c0005t0005g0117 a0000c0005t0005g0119 a0000c0005t0005g0120 a0000c0005t0005g0268 a0000c0005t0005g0269 a0000c0005t0019g0113 a0000c0005t0019g0114 a0000c0005t0020g0107 a0000c0005t0020g0121 a0000c0005t0041g0111 a0000c0005t0042g0109 a0000c0012t0004g0065 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0298 a0001c0002t0001g0357 a0003c0010t0002g0105	46	386	0.1192	6	c.146 others(23): Show c.146+2462_146+2467dupTGTGTG	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	2/18			chr19	TogoVar
CEP95_chr17_64501977_64542946	64504992	C C	CTCTCCT CTCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG01069.hp2 others(107): Show HG00558.hp2 HG00639.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02015.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18956.hp2 NA18986.hp2 NA18992.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19058.hp1 NA19065.hp1 NA19085.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0009	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005 a0005c0007 a0009c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0002 a0003c0003t0002 a0004c0005t0002 a0005c0007t0002 a0009c0004t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 others(66): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0003g0011 a0001c0001t0004g0051 a0002c0002t0002g0137 a0002c0002t0002g0138 a0003c0003t0002g0141 a0004c0005t0002g0126 a0005c0007t0002g0041 a0009c0004t0002g0053	110	248	0.4436	6	c.-21 others(17): Show c.-2106_-2105insTCTCCT	CEP95	ENSG00000258890.8	transcript	ENST00000556440.7	protein_coding		1984		chr17	TogoVar
CEP95_chr17_64501977_64542946	64540759	G G	GTATATA GTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01069.hp2 HG01071.hp2 others(10): Show HG00639.hp1 HG01069.hp2 HG01071.hp2 HG01891.hp1 HG02015.hp1 HG02145.hp1 HG02723.hp1 HG02965.hp1 HG03139.hp2 HG03579.hp2 HG06807.hp1 NA19043.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0072 a0001c0001t0002g0031 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0072 a0001c0001t0002g0031 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0003g0011	13	248	0.0524	6	c.29 others(17): Show c.2980_*2981insTATATA	CEP95	ENSG00000258890.8	transcript	ENST00000556440.7	protein_coding		2814		chr17	TogoVar
CEP97_chr3_101719614_101775562	101760022	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00558.hp1 others(39): Show HG00323.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00741.hp2 HG01361.hp1 HG01361.hp2 HG02004.hp1 HG02055.hp1 HG02074.hp2 HG02080.hp1 HG02258.hp1 HG02922.hp1 HG03239.hp1 HG03927.hp1 HG03942.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18950.hp2 NA18956.hp2 NA18967.hp1 NA18986.hp1 NA18988.hp2 NA18993.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19009.hp1 NA19060.hp1 NA19062.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19080.hp2 NA19087.hp2 NA19091.hp1 NA20129.hp2	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0010	a0001c0001 a0003c0005 a0008c0012 others(1): Show a0001c0001 a0003c0005 a0008c0012 a0010c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 a0001c0001t0032 a0003c0005t0001 a0008c0012t0001 a0010c0010t0001	a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0096 others(38): Show a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0313 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0167 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0311 a0001c0001t0002g0315 a0001c0001t0011g0252 a0001c0001t0014g0008 a0001c0001t0032g0024 a0003c0005t0001g0284 a0008c0012t0001g0233 a0010c0010t0001g0248	42	352	0.1193	6	c.181 others(25): Show c.1817+1618_1817+1623dupAAAAAA	CEP97	ENSG00000182504.12	transcript	ENST00000341893.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CER1_chr9_14714724_14727733	14723164	T T	TCACACA TCACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp2 others(39): Show HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00673.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01167.hp2 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01943.hp2 HG01981.hp2 HG02083.hp1 HG02132.hp1 HG02165.hp1 HG02602.hp1 HG02683.hp2 HG03831.hp2 NA18941.hp2 NA18942.hp1 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18964.hp1 NA18993.hp1 NA18994.hp1 NA19001.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19076.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0001 a0002c0002t0001g0005 a0002c0002t0002g0004 others(2): Show a0001c0001t0001g0001 a0002c0002t0001g0005 a0002c0002t0002g0004 a0003c0003t0001g0003 a0003c0003t0001g0043	42	460	0.0913	6	c.-49 others(15): Show c.-493_-492insTGTGTG	CER1	ENSG00000147869.5	transcript	ENST00000380911.4	protein_coding		432		chr9	TogoVar
CERCAM_chr9_128415857_128442347	128437361	G G	GTATGTA GTATGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02071.hp2 HG02258.hp2 others(8): Show HG01891.hp2 HG02071.hp2 HG02258.hp2 HG02615.hp1 HG02717.hp1 HG02897.hp2 HG02922.hp1 HG03654.hp2 HG03688.hp1 HG03831.hp1 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0043 others(6): Show a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0043 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0162	11	400	0.0275	6	c.51 others(15): Show c.513_*514insTATGTA	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		15		chr9	TogoVar
CERCAM_chr9_128415857_128442347	128437371	G G	GTATATA GTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02083.hp1 HG02165.hp1 others(3): Show HG01884.hp2 HG02083.hp1 HG02165.hp1 HG02683.hp2 NA18980.hp1 NA18998.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0023 a0001c0001 a0002c0023	a0001c0001t0001 a0002c0023t0001 a0001c0001t0001 a0002c0023t0001	a0001c0001t0001g0038 a0001c0001t0001g0123 a0001c0001t0001g0131 others(3): Show a0001c0001t0001g0038 a0001c0001t0001g0123 a0001c0001t0001g0131 a0001c0001t0001g0144 a0001c0001t0001g0152 a0002c0023t0001g0202	6	400	0.0150	6	c.52 others(15): Show c.523_*524insTATATA	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		25		chr9	TogoVar
CERKL_chr2_181531672_181662105	181536382	T T	TGATACA TGATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00609.hp1 others(49): Show HG00099.hp1 HG00140.hp1 HG00609.hp1 HG00621.hp1 HG01070.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01175.hp2 HG01243.hp1 HG01358.hp2 HG01496.hp1 HG01517.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02165.hp2 HG02300.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02735.hp2 HG02976.hp1 HG03239.hp1 HG03669.hp2 HG04204.hp1 NA18950.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18964.hp1 NA18968.hp1 NA18970.hp1 NA18977.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp2 NA19003.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19062.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19080.hp2 NA19082.hp2 NA19087.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0003 a0001c0001t0012 a0001c0001t0017 others(6): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0017 a0001c0002t0003 a0001c0002t0012 a0001c0002t0018 a0001c0002t0019 a0002c0003t0003 a0002c0004t0003	a0001c0001t0003g0149 a0001c0001t0003g0163 a0001c0001t0003g0172 others(46): Show a0001c0001t0003g0149 a0001c0001t0003g0163 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0187 a0001c0001t0003g0224 a0001c0001t0003g0235 a0001c0001t0003g0251 a0001c0001t0003g0256 a0001c0001t0003g0269 a0001c0001t0003g0292 a0001c0001t0012g0188 a0001c0001t0012g0273 a0001c0001t0017g0165 a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0010 a0001c0002t0003g0011 a0001c0002t0003g0014 a0001c0002t0003g0020 a0001c0002t0003g0022 a0001c0002t0003g0027 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0045 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0085 a0001c0002t0003g0086 a0001c0002t0003g0098 a0001c0002t0003g0141 a0001c0002t0012g0123 a0001c0002t0018g0044 a0001c0002t0019g0026 a0002c0003t0003g0106 a0002c0003t0003g0108 a0002c0004t0003g0221 a0002c0004t0003g0293	52	298	0.1745	6	c.17 others(17): Show c.1796_*1801dupTGTATC	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding		289		chr2	TogoVar
CERKL_chr2_181531672_181662105	181572780	C C	CTTTTTT CTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp1 HG02074.hp1 others(7): Show HG01081.hp1 HG01167.hp1 HG02074.hp1 HG02109.hp2 NA18906.hp1 NA19003.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0002c0003t0004 a0002c0003t0007 a0002c0003t0009 a0002c0004t0004	a0001c0001t0001g0206 a0001c0001t0001g0286 a0001c0002t0001g0051 others(7): Show a0001c0001t0001g0206 a0001c0001t0001g0286 a0001c0002t0001g0051 a0001c0002t0005g0059 a0001c0002t0005g0084 a0002c0003t0004g0096 a0002c0003t0004g0100 a0002c0003t0007g0121 a0002c0003t0009g0094 a0002c0004t0004g0201	10	298	0.0336	6	c.613 others(21): Show c.613+967_613+972dupAAAAAA	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	3/12			chr2	TogoVar

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