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 per page.

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
CERT1_chr5_75372775_75516629	75393602	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp2 HG01069.hp2 others(5): Show HG00673.hp1 HG00735.hp2 HG01069.hp2 HG02145.hp2 HG02738.hp1 NA18941.hp1 NA19068.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001	a0001c0001t0002g0119 a0001c0001t0002g0196 a0001c0001t0002g0197 others(5): Show a0001c0001t0002g0119 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0206 a0001c0001t0002g0227 a0001c0001t0002g0252 a0001c0001t0007g0228 a0001c0002t0001g0333	8	336	0.0238	27	c.118 others(46): Show c.1189-3916_1189-3915insTTTTTTTTTTTTTTTTTTTTTTTTTT T	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	11/16			chr5	TogoVar
CES5A_chr16_55841154_55880373	55854532	T T	TTTCTGTT others(20): Show TTTCTGTTTTCTTTCTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(113): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02056.hp1 HG02135.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02572.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02965.hp1 HG03017.hp1 HG03486.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18944.hp1 NA18944.hp2 NA18952.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18987.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19006.hp1 NA19009.hp1 NA19056.hp2 NA19057.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19080.hp1 NA19081.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0010 a0015 a0018 a0023 a0026 a0031 a0043	a0001c0001 a0001c0002 a0002c0003 others(15): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0003c0004 a0003c0011 a0004c0006 a0005c0017 a0005c0018 a0005c0044 a0010c0029 a0010c0062 a0015c0073 a0018c0022 a0023c0032 a0026c0049 a0031c0042 a0043c0065	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0002t0005 a0002c0003t0001 a0002c0003t0002 a0002c0005t0001 a0002c0005t0002 a0002c0005t0007 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0003c0011t0002 a0003c0011t0004 a0003c0011t0006 a0004c0006t0001 a0005c0017t0001 a0005c0018t0002 a0005c0044t0002 a0010c0029t0004 a0010c0062t0004 a0015c0073t0005 a0018c0022t0001 a0023c0032t0006 a0026c0049t0002 a0031c0042t0002 a0043c0065t0003	a0001c0001t0001g0004 a0001c0001t0001g0197 a0001c0001t0001g0270 others(101): Show a0001c0001t0001g0004 a0001c0001t0001g0197 a0001c0001t0001g0270 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0351 a0001c0001t0001g0357 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0382 a0001c0001t0001g0386 a0001c0001t0001g0389 a0001c0001t0001g0390 a0001c0001t0001g0397 a0001c0001t0001g0399 a0001c0001t0001g0400 a0001c0001t0001g0405 a0001c0001t0001g0406 a0001c0001t0002g0398 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0009 a0001c0001t0003g0013 a0001c0001t0003g0030 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0065 a0001c0001t0003g0090 a0001c0001t0003g0103 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0123 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0046 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0139 a0001c0001t0005g0149 a0001c0001t0005g0162 a0001c0001t0005g0165 a0001c0001t0005g0166 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0005g0177 a0001c0001t0005g0194 a0001c0001t0009g0122 a0001c0002t0005g0151 a0002c0003t0001g0309 a0002c0003t0002g0196 a0002c0003t0002g0247 a0002c0005t0001g0003 a0002c0005t0001g0022 a0002c0005t0001g0200 a0002c0005t0001g0218 a0002c0005t0001g0223 a0002c0005t0001g0227 a0002c0005t0001g0259 a0002c0005t0001g0260 a0002c0005t0001g0297 a0002c0005t0001g0300 a0002c0005t0001g0314 a0002c0005t0001g0317 a0002c0005t0002g0231 a0002c0005t0002g0294 a0002c0005t0007g0407 a0002c0005t0007g0409 a0002c0005t0007g0410 a0002c0005t0007g0411 a0003c0004t0002g0349 a0003c0004t0002g0350 a0003c0004t0002g0392 a0003c0004t0003g0071 a0003c0004t0004g0091 a0003c0011t0002g0273 a0003c0011t0004g0076 a0003c0011t0004g0079 a0003c0011t0004g0113 a0003c0011t0006g0160 a0004c0006t0001g0363 a0005c0017t0001g0261 a0005c0018t0002g0295 a0005c0018t0002g0310 a0005c0044t0002g0256 a0010c0029t0004g0051 a0010c0062t0004g0105 a0015c0073t0005g0182 a0018c0022t0001g0279 a0023c0032t0006g0137 a0026c0049t0002g0233 a0031c0042t0002g0234 a0043c0065t0003g0052	116	449	0.2584	27	c.112 others(46): Show c.1126-1505_1126-1504insGAAAAAAAAAAAAGAAAGAAAACAGA A	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12			chr16	TogoVar
CFAP206_chr6_87402972_87469465	87447951	T T	TTTATTAT others(20): Show TTTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00642.hp1 others(22): Show HG00280.hp1 HG00639.hp1 HG00642.hp1 HG01167.hp2 HG01243.hp2 HG01346.hp1 HG01358.hp1 HG02056.hp1 HG02132.hp2 HG02723.hp1 HG02976.hp2 HG03195.hp2 HG03710.hp2 HG03927.hp2 HG04204.hp1 NA18961.hp2 NA18971.hp1 NA18983.hp1 NA18994.hp1 NA18995.hp1 NA19062.hp1 NA19079.hp1 NA19083.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0014 a0002c0002 a0004c0005 a0001c0014 a0002c0002 a0004c0005	a0001c0014t0002 a0002c0002t0001 a0004c0005t0001 a0001c0014t0002 a0002c0002t0001 a0004c0005t0001	a0001c0014t0002g0025 a0002c0002t0001g0022 a0002c0002t0001g0242 others(21): Show a0001c0014t0002g0025 a0002c0002t0001g0022 a0002c0002t0001g0242 a0002c0002t0001g0249 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0255 a0002c0002t0001g0266 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0277 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0283 a0002c0002t0001g0284 a0004c0005t0001g0263 a0004c0005t0001g0264	25	376	0.0665	27	c.149 others(48): Show c.1494+12916_1494+12917insTTATTATTATTATTATTATTATTA TTA	CFAP206	ENSG00000272514.6	transcript	ENST00000369562.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CFAP20DC_chr3_58737008_59055025	58801074	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03579.hp1 HG03209.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0056 a0001c0005t0001g0057 a0001c0005t0001g0056 a0001c0005t0001g0057	2	204	0.0098	27	c.223 others(46): Show c.2237+5320_2237+5321insCTCTCTCTCTCTCTCTCTCTCTCTCT C	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16			chr3	TogoVar
CFAP298_chr21_32594354_32617377	32611339	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01192.hp2 HG03209.hp2 others(2): Show HG01069.hp1 HG01192.hp2 HG03209.hp2 HG03688.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0205 a0001c0001t0003g0017 a0001c0001t0003g0061 a0001c0001t0001g0205 a0001c0001t0003g0017 a0001c0001t0003g0061	5	416	0.0120	27	c.139 others(42): Show c.139+765_139+766insATATATATATATATATATATATATATA	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6			chr21	TogoVar
CFAP299_chr4_80330730_80968750	80364089	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	96	0.0104	27	c.242 others(44): Show c.242+1205_242+1206insCACACACACACACACACACACACACAC	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5			chr4	TogoVar
CFAP299_chr4_80330730_80968750	80797261	G G	GACCCAGC others(20): Show GACCCAGCTTCCACTTCATTCAAAGGGT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0026	1	96	0.0104	27	c.334 others(46): Show c.334-72731_334-72705dupACCCAGCTTCCACTTCATTCAAAGGG T	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP410_chr21_44323944_44344390	44334521	C C	CCCCTCAA others(20): Show CCCCTCAACCTCTGGGCGGGCACGCGCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp2 HG01071.hp2 others(41): Show HG00099.hp1 HG01069.hp2 HG01071.hp2 HG01123.hp2 HG01168.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG02027.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02486.hp2 HG02523.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02818.hp2 HG03490.hp1 HG03710.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18946.hp1 NA18955.hp1 NA18959.hp2 NA18975.hp2 NA18981.hp2 NA18982.hp2 NA18986.hp2 NA18990.hp2 NA18999.hp1 NA19003.hp1 NA19004.hp2 NA19065.hp1 NA19067.hp2 NA19074.hp2 NA19076.hp1	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0001 a0001c0002 a0005c0007 others(1): Show a0001c0001 a0001c0002 a0005c0007 a0009c0016	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0002t0002 a0005c0007t0009 a0009c0016t0001	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0024 others(22): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0114 a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0176 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0196 a0001c0001t0004g0033 a0001c0001t0004g0070 a0001c0001t0004g0212 a0001c0001t0014g0166 a0001c0002t0002g0048 a0001c0002t0002g0290 a0005c0007t0009g0211 a0005c0007t0009g0226 a0009c0016t0001g0131	44	436	0.1009	27	c.143 others(44): Show c.143+1236_143+1237insTGCGCGTGCCCGCCCAGAGGTTGAGGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP410_chr21_44323944_44344390	44334522	C C	CCCCTCAA others(20): Show CCCCTCAACCTCTGGGCGGGCACGCGCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02615.hp1 HG02976.hp1 others(1): Show HG01884.hp2 HG02615.hp1 HG02976.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0029 a0001c0002t0006 a0001c0002t0029	a0001c0002t0006g0052 a0001c0002t0006g0053 a0001c0002t0006g0055 others(1): Show a0001c0002t0006g0052 a0001c0002t0006g0053 a0001c0002t0006g0055 a0001c0002t0029g0272	4	436	0.0092	27	c.143 others(44): Show c.143+1235_143+1236insTGCGCGTGCCCGCCCAGAGGTTGAGGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP410_chr21_44323944_44344390	44341477	C C	CAGAGACA others(20): Show CAGAGACAGTGTTGACTGGAGGGAGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0271 a0001c0002t0002g0271	1	436	0.0023	27	c.-22 others(38): Show c.-2284_-2283insACCCTCCCTCCAGTCAACACTGTCTCT	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding		2088		chr21	TogoVar
CFAP44_chr3_113281930_113446493	113320452	T T	TGATATAT others(20): Show TGATATATATTGATATATATGATATATA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0010 a0005c0005t0010	a0005c0005t0010g0018 a0005c0005t0010g0018	1	348	0.0029	27	c.451 others(46): Show c.4516+5992_4516+5993insTATATATCATATATATCAATATATAT C	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	28/34			chr3	TogoVar
CFAP45_chr1_159867364_159905165	159873849	C C	CCTTCCTT others(20): Show CCTTCCTTCCTTCCTTCCTTCTTCCTTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00423.hp1 others(43): Show HG00099.hp1 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00741.hp1 HG01167.hp1 HG01192.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG02056.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG03139.hp2 HG03471.hp1 HG03486.hp2 HG03834.hp1 NA18943.hp1 NA18952.hp2 NA18954.hp1 NA18977.hp2 NA18980.hp1 NA18985.hp1 NA19030.hp1 NA19043.hp1 NA19058.hp2 NA19060.hp1 NA19082.hp1 NA20129.hp1	a0001 a0003 a0009 others(2): Show a0001 a0003 a0009 a0010 a0011	a0001c0001 a0001c0019 a0003c0004 others(3): Show a0001c0001 a0001c0019 a0003c0004 a0009c0011 a0010c0018 a0011c0014	a0001c0001t0001 a0001c0019t0001 a0003c0004t0001 others(3): Show a0001c0001t0001 a0001c0019t0001 a0003c0004t0001 a0009c0011t0001 a0010c0018t0001 a0011c0014t0001	a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0026 others(31): Show a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0131 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0239 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0266 a0001c0019t0001g0177 a0003c0004t0001g0019 a0003c0004t0001g0115 a0003c0004t0001g0136 a0009c0011t0001g0112 a0010c0018t0001g0228 a0011c0014t0001g0180	46	410	0.1122	27	c.135 others(44): Show c.1353-682_1353-681insCAAGGAAGAAGGAAGGAAGGAAGGAAG	CFAP45	ENSG00000213085.10	transcript	ENST00000368099.9	protein_coding	10/11			chr1	TogoVar
CFAP46_chr10_132803392_132947570	132888564	G G	GCACCCCT others(20): Show GCACCCCTGCCGCCTGCACCCCTGCCTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	246	0.0041	27	c.330 others(46): Show c.3305-2606_3305-2605insAAGGCAGGGGTGCAGGCGGCAGGGGT G	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP52_chr17_9571642_9648447	9631028	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0294 a0003c0003t0001g0294	1	316	0.0032	27	c.117 others(46): Show c.1175-1860_1175-1859insGAGAGAGAGAGAGAGAGAGAGAGAGA G	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13			chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAGAGA others(20): Show GAGAGAGAGAGAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0225 a0002c0001t0002g0225	1	316	0.0032	27	c.117 others(46): Show c.1175-1833_1175-1832insGAGAGAGAAGAAAGAAAGAAAGAAAG A	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631067	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0270 a0002c0001t0001g0270	1	316	0.0032	27	c.117 others(46): Show c.1175-1821_1175-1820insGAGAGAGAGAGAGAGAGAGAGAGAGA G	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13			chr17	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	402	0.0025	27	c.131 others(46): Show c.1316+1273_1316+1274insATATATATATATATATATATTTTTTT T	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03491.hp1 NA20752.hp2 HG02738.hp2 HG03491.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0039 a0001c0001t0001g0054 a0003c0003t0001g0268 a0001c0001t0001g0039 a0001c0001t0001g0054 a0003c0003t0001g0268	3	402	0.0075	27	c.131 others(46): Show c.1316+1273_1316+1274insATATATATATATATATATATATTTTT T	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18960.hp2 NA18522.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0060 a0001c0001t0001g0030 a0001c0001t0001g0060	2	402	0.0050	27	c.131 others(46): Show c.1316+1273_1316+1274insATATATATATATATATATATATATTT T	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0246 a0003c0003t0001g0246	1	402	0.0025	27	c.131 others(46): Show c.1316+1273_1316+1274insATATATATATATATATATATATATAT T	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP77_chr9_132405211_132578319	132438541	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	322	0.0031	27	c.195 others(46): Show c.195+28076_195+28077insATATATATATATATATATATATATTT T	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843503	C C	CCCCCCTC others(20): Show CCCCCCTCCTCCTCCCCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	380	0.0026	27	c.153 others(44): Show c.153-1010_153-1009insCTCCTCCTCCCCCCCCTCCTCCTCCCC	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP97D2_chr13_114174257_114228085	114176595	A A	ATGGGTGA others(20): Show ATGGGTGACAGCCATGGGTGGACAGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01361.hp2 HG01993.hp1 others(12): Show HG00642.hp2 HG01361.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02273.hp1 HG02273.hp2 HG03834.hp1 NA18954.hp1 NA18992.hp2 NA18999.hp2 NA19063.hp1 NA19074.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0033 a0001c0001t0006g0340 others(9): Show a0001c0001t0006g0010 a0001c0001t0006g0033 a0001c0001t0006g0340 a0001c0001t0006g0341 a0001c0001t0006g0342 a0001c0001t0006g0343 a0001c0001t0006g0344 a0001c0001t0006g0345 a0001c0001t0006g0346 a0001c0001t0006g0347 a0001c0001t0006g0348 a0001c0001t0006g0349	15	400	0.0375	27	c.-27 others(38): Show c.-2736_-2735insTGGGTGACAGCCATGGGTGGACAGCTG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding		2661		chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114225450	A A	AAGGGGAG others(20): Show AAGGGGAGGGAGGGGGAGGGAAAGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01071.hp2 others(9): Show HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01891.hp1 HG02280.hp1 HG02572.hp1 HG02622.hp2 HG02886.hp2 HG03209.hp1 HG03540.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0067 others(9): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0351 a0001c0001t0001g0352	12	400	0.0300	27	c.29 others(38): Show c.2943_*2944insAGGGGAGGGAGGGGGAGGGAAAGGGGG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding		2366		chr13	TogoVar
CFAP99_chr4_2413955_2468002	2435807	C C	CCAGCTAC others(20): Show CCAGCTACTCAGGAGGCCGAGGTGGAAG	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0163 a0002c0005t0001g0163	1	350	0.0029	27	c.112 others(44): Show c.112-1043_112-1042insAAGCAGCTACTCAGGAGGCCGAGGTGG	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFDP1_chr16_75288710_75438503	75349684	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA19011.hp2 NA18960.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0271 a0001c0002t0001g0055 a0001c0001t0001g0271 a0001c0002t0001g0055	2	314	0.0064	27	c.651 others(46): Show c.651-44503_651-44502insATATATATATATATATATATATATAT A	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349686	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	314	0.0032	27	c.651 others(46): Show c.651-44505_651-44504insATATATATATATATATATATATATAT A	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349688	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	314	0.0032	27	c.651 others(46): Show c.651-44507_651-44506insATATATATATATATATATATATATAT A	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CGAS_chr6_73418711_73457297	73453568	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0266 a0002c0005t0002g0266	1	410	0.0024	27	c.-13 others(38): Show c.-1388_-1387insAAAAAAAAAAAAAAAAAAAAAAAAAAA	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding		1272		chr6	TogoVar
CGNL1_chr15_57371505_57555717	57394101	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG02040.hp1 others(4): Show HG01515.hp1 HG01517.hp1 HG02040.hp1 HG02071.hp1 HG02083.hp1 NA18984.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0026 a0001c0001 a0001c0005 a0002c0026	a0001c0001t0011 a0001c0005t0001 a0001c0005t0002 others(1): Show a0001c0001t0011 a0001c0005t0001 a0001c0005t0002 a0002c0026t0018	a0001c0001t0011g0277 a0001c0001t0011g0281 a0001c0005t0001g0245 others(4): Show a0001c0001t0011g0277 a0001c0001t0011g0281 a0001c0005t0001g0245 a0001c0005t0001g0257 a0001c0005t0002g0214 a0001c0005t0002g0215 a0002c0026t0018g0166	7	294	0.0238	27	c.-16 others(46): Show c.-16+17537_-16+17538insTTTTTTTTTTTTTTTTTTTTTTTTTT T	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57442182	G G	GAAAAAAA others(20): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0047 a0001c0001t0004g0047	1	294	0.0034	27	c.169 others(44): Show c.1698-170_1698-169insAAAAAAAAAAAAAAAAAAAAAAAAAAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57442182	G G	GGAAAAAA others(20): Show GGAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01952.hp2 HG01993.hp1 others(1): Show HG01346.hp2 HG01952.hp2 HG01993.hp1 HG02300.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0015 a0002c0008 a0001c0005 a0001c0015 a0002c0008	a0001c0005t0002 a0001c0015t0001 a0002c0008t0017 a0001c0005t0002 a0001c0015t0001 a0002c0008t0017	a0001c0005t0002g0016 a0001c0005t0002g0062 a0001c0015t0001g0022 others(1): Show a0001c0005t0002g0016 a0001c0005t0002g0062 a0001c0015t0001g0022 a0002c0008t0017g0013	4	294	0.0136	27	c.169 others(44): Show c.1698-191_1698-190insGAAAAAAAAAAAAAAAAAAAAAAAAAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18			chr15	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCACTTC others(20): Show CTCACTTCTCTATCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	352	0.0028	27	c.-12 others(44): Show c.-12+1922_-12+1923insAAGAGAGAGAGAGAGATAGAGAAGTGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116924	T T	TCTCTCTC others(20): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18955.hp1 NA18983.hp2 HG03239.hp2 NA18955.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278	3	352	0.0085	27	c.-12 others(44): Show c.-12+1921_-12+1922insGAGAGAGAGAGAGAGAGAGAGAGAGAG	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHAF1A_chr19_4397640_4448397	4408461	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19004.hp1 HG02630.hp2 NA19004.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0002 a0001c0001t0001 a0003c0004t0002	a0001c0001t0001g0133 a0003c0004t0002g0337 a0001c0001t0001g0133 a0003c0004t0002g0337	2	384	0.0052	27	c.104 others(42): Show c.104-438_104-412dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4411644	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0048 a0002c0002t0002g0048	1	384	0.0026	27	c.960 others(44): Show c.960+1906_960+1907insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4427136	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	384	0.0026	27	c.137 others(46): Show c.1378-1523_1378-1497dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHCHD3_chr7_132779870_133087090	132955173	G G	GTGTGTGT others(20): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	310	0.0032	27	c.369 others(46): Show c.369+19995_369+19996insACACACACACACACACACACACACAC A	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD6_chr3_126699240_126965420	126863011	T T	TCCTCCAC others(20): Show TCCTCCACCATCACCACCTTCCCCTCTA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01168.hp2 HG01993.hp1 others(1): Show HG01069.hp1 HG01168.hp2 HG01993.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0183 others(1): Show a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0183 a0001c0001t0001g0184	4	216	0.0185	27	c.495 others(46): Show c.495+10283_495+10284insTCCACCATCACCACCTTCCCCTCTAC C	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	334	0.0030	27	c.54- others(42): Show c.54-6049_54-6048insATATATATATATATATATATATATATA	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98917299	C C	CCAAAAAA others(20): Show CCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19030.hp2 NA19043.hp2 others(2): Show HG06807.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0013 a0001c0003t0002 a0001c0003t0013	a0001c0003t0002g0058 a0001c0003t0002g0059 a0001c0003t0013g0007 others(1): Show a0001c0003t0002g0058 a0001c0003t0002g0059 a0001c0003t0013g0007 a0001c0003t0013g0303	5	334	0.0150	27	c.53+ others(42): Show c.53+9034_53+9035insTTTTTTTTTTTTTTTTTTTTTTTTTTG	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD3_chr17_7883789_7917755	7885307	C C	CCCGCCGC others(20): Show CCCGCCGCCGCCGCCGCCGCCGCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 NA19091.hp1 HG03239.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0042 a0001c0001t0001g0001 a0001c0001t0001g0042	2	366	0.0055	27	c.-36 others(38): Show c.-3694_-3693insCCGCCGCCGCCGCCGCCGCCGCCGCCG	CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding		3481		chr17	TogoVar
CHD6_chr20_41397083_41623377	41419554	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	324	0.0031	27	c.612 others(44): Show c.6127+927_6127+953dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	31/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41497663	A A	AACAACAG others(20): Show AACAACAGAAAACAAAACAAAACGGAGT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0096	1	324	0.0031	27	c.975 others(42): Show c.975-189_975-163dupACTCCGTTTTGTTTTGTTTTCTGTTGT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	7/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41504077	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG03453.hp2 HG02273.hp1 HG03453.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0002 a0007c0012t0004 a0001c0001t0002 a0007c0012t0004	a0001c0001t0002g0221 a0007c0012t0004g0309 a0001c0001t0002g0221 a0007c0012t0004g0309	2	324	0.0062	27	c.853 others(44): Show c.853-4747_853-4721dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	5/36			chr20	TogoVar
CHD7_chr8_60673740_60873028	60678764	C C	CGCGGCGG others(20): Show CGCGGCGGCGGCGGCGGCGGCGGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18962.hp2 NA19077.hp2 NA18962.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0046 a0001c0001t0045 a0001c0001t0046	a0001c0001t0045g0128 a0001c0001t0046g0138 a0001c0001t0045g0128 a0001c0001t0046g0138	2	236	0.0085	27	c.-46 others(36): Show c.-467_-466insGGCGGCGGCGGCGGCGGCGGCGGCGGC	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	1/38	62642	INFO_REALIGN_3_PRIME	chr8	TogoVar
CHEK2_chr22_28682743_28746820	28698228	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0367 a0001c0002t0001g0367	1	384	0.0026	27	c.100 others(46): Show c.1009-1242_1009-1241insTTTTTTTTTTTTTTTTTTTTTTTTTT T	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	9/14			chr22	TogoVar
CHL1_chr3_191763_414417	239595	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0123 a0002c0002t0002g0123	1	290	0.0035	27	c.-17 others(46): Show c.-174-5018_-174-5017insTATATATATATATATATATATATATA T	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	1/27			chr3	TogoVar
CHL1_chr3_191763_414417	256107	A A	AACATATT others(20): Show AACATATTCTAAGCGAAGTAAGGAGGTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00544.hp2 others(65): Show HG00280.hp1 HG00408.hp1 HG00544.hp2 HG00558.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01167.hp2 HG01243.hp1 HG01952.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02155.hp2 HG02257.hp1 HG02273.hp2 HG02559.hp2 HG02622.hp2 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03704.hp2 HG03834.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18943.hp2 NA18946.hp2 NA18948.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18964.hp2 NA18973.hp1 NA18987.hp2 NA18995.hp2 NA19003.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19060.hp2 NA19062.hp2 NA19070.hp2 NA19079.hp2 NA19081.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0007 a0009 a0010 a0016 a0019 a0023 a0025	a0001c0001 a0002c0002 a0002c0028 others(9): Show a0001c0001 a0002c0002 a0002c0028 a0003c0003 a0004c0004 a0007c0006 a0009c0010 a0010c0009 a0016c0026 a0019c0022 a0023c0018 a0025c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0014 a0002c0002t0026 a0002c0028t0009 a0003c0003t0008 a0004c0004t0003 a0004c0004t0008 a0007c0006t0019 a0009c0010t0001 a0009c0010t0048 a0010c0009t0047 a0016c0026t0002 a0019c0022t0032 a0023c0018t0001 a0025c0013t0020	a0001c0001t0001g0057 a0001c0001t0001g0132 a0001c0001t0001g0144 others(65): Show a0001c0001t0001g0057 a0001c0001t0001g0132 a0001c0001t0001g0144 a0001c0001t0001g0205 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0039 a0001c0001t0002g0046 a0001c0001t0002g0051 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0068 a0001c0001t0002g0077 a0001c0001t0002g0084 a0001c0001t0009g0074 a0001c0001t0009g0075 a0001c0001t0010g0066 a0001c0001t0013g0241 a0001c0001t0015g0120 a0002c0002t0001g0026 a0002c0002t0001g0056 a0002c0002t0001g0072 a0002c0002t0001g0118 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0286 a0002c0002t0002g0013 a0002c0002t0002g0049 a0002c0002t0002g0053 a0002c0002t0002g0055 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0073 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0121 a0002c0002t0002g0123 a0002c0002t0003g0048 a0002c0002t0014g0104 a0002c0002t0014g0105 a0002c0002t0026g0050 a0002c0028t0009g0085 a0003c0003t0008g0076 a0004c0004t0003g0041 a0004c0004t0008g0235 a0004c0004t0008g0236 a0004c0004t0008g0237 a0007c0006t0019g0124 a0009c0010t0001g0047 a0009c0010t0048g0211 a0010c0009t0047g0011 a0016c0026t0002g0052 a0019c0022t0032g0240 a0023c0018t0001g0193 a0025c0013t0020g0031	68	290	0.2345	27	c.-95 others(46): Show c.-95+11416_-95+11442dupACATATTCTAAGCGAAGTAAGGAGGT T	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	256110	A A	ATATTCTA others(20): Show ATATTCTAAGCGAAGTAAGGAGGTTACC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp2 HG01167.hp1 others(11): Show HG00642.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp2 HG01256.hp2 HG01346.hp2 HG02145.hp2 HG02602.hp2 HG03927.hp2 HG03942.hp1 NA18947.hp2 NA19043.hp1 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0025 a0001c0001t0028 a0001c0001t0057 a0006c0008t0024	a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0278 others(11): Show a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0003g0229 a0001c0001t0003g0254 a0001c0001t0003g0260 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0010g0194 a0001c0001t0025g0103 a0001c0001t0028g0232 a0001c0001t0057g0251 a0006c0008t0024g0252 a0006c0008t0024g0253	14	290	0.0483	27	c.-95 others(46): Show c.-95+11442_-95+11443insACCTATTCTAAGCGAAGTAAGGAGGT T	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar

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