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
CPEB3_chr10_92041692_92296078	92106814	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp1 HG02257.hp1 others(9): Show HG00639.hp1 HG01081.hp1 HG02257.hp1 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp2 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0001t0011 a0001c0001t0015 others(4): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0015 a0001c0001t0025 a0001c0001t0038 a0001c0004t0011 a0001c0004t0033	a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0250 others(9): Show a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0011g0265 a0001c0001t0015g0267 a0001c0001t0025g0253 a0001c0001t0038g0263 a0001c0004t0011g0252 a0001c0004t0033g0269	12	278	0.0432	7	c.157 others(26): Show c.1572+4255_1572+4261dupTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	7/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92217237	A A	AAAAAAAT AAAAAAAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02055.hp2 HG02965.hp2 others(3): Show HG01433.hp2 HG02055.hp2 HG02965.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0025 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0025 a0001c0001t0038	a0001c0001t0002g0262 a0001c0001t0005g0246 a0001c0001t0005g0261 others(3): Show a0001c0001t0002g0262 a0001c0001t0005g0246 a0001c0001t0005g0261 a0001c0001t0005g0271 a0001c0001t0025g0253 a0001c0001t0038g0263	6	278	0.0216	7	c.100 others(28): Show c.1005+22108_1005+22109insATTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	2/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92289718	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01081.hp1 HG01261.hp1 others(11): Show HG00423.hp1 HG01081.hp1 HG01261.hp1 HG01433.hp2 HG02056.hp1 HG02071.hp2 HG02602.hp2 HG02818.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03942.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0001c0001t0025 a0001c0001t0040	a0001c0001t0002g0125 a0001c0001t0002g0129 a0001c0001t0003g0126 others(11): Show a0001c0001t0002g0125 a0001c0001t0002g0129 a0001c0001t0003g0126 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0005g0246 a0001c0001t0005g0254 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0005g0260 a0001c0001t0015g0267 a0001c0001t0025g0253 a0001c0001t0040g0276	14	278	0.0504	7	c.-12 others(24): Show c.-12+1201_-12+1207dupTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPEB4_chr5_173883349_173966980	173892274	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG01081.hp2 others(31): Show HG00099.hp1 HG00280.hp1 HG01081.hp2 HG01169.hp1 HG01256.hp1 HG01258.hp1 HG01496.hp2 HG02071.hp1 HG02109.hp2 HG02155.hp1 HG02165.hp2 HG02293.hp2 HG02486.hp2 HG02738.hp2 HG03098.hp1 HG03130.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18941.hp2 NA18959.hp2 NA18973.hp2 NA18995.hp2 NA19001.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19054.hp2 NA19075.hp2 NA19079.hp1 NA19087.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0004 a0001c0001t0007 a0001c0001t0055 others(3): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0008t0004	a0001c0001t0004g0001 a0001c0001t0004g0034 a0001c0001t0004g0269 others(25): Show a0001c0001t0004g0001 a0001c0001t0004g0034 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0274 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0283 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0004g0288 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0007g0167 a0001c0001t0055g0275 a0001c0001t0056g0273 a0001c0001t0057g0278 a0001c0008t0004g0287	34	372	0.0914	7	c.112 others(26): Show c.1125+1425_1125+1431dupTTTTTTT	CPEB4	ENSG00000113742.14	transcript	ENST00000265085.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
CPED1_chr7_120983711_121302442	121044648	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02723.hp2 HG02922.hp1 others(5): Show HG01070.hp1 HG02723.hp2 HG02922.hp1 HG02976.hp2 HG03209.hp1 HG03225.hp1 NA18522.hp1 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0005c0011 others(1): Show a0001c0001 a0001c0007 a0005c0011 a0005c0012	a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 a0001c0007t0006 a0005c0011t0001 a0005c0012t0001	a0001c0001t0001g0061 a0001c0001t0001g0095 a0001c0001t0003g0008 others(5): Show a0001c0001t0001g0061 a0001c0001t0001g0095 a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0007t0001g0108 a0001c0007t0006g0107 a0005c0011t0001g0052 a0005c0012t0001g0079	8	140	0.0571	7	c.434 others(24): Show c.434-2238_434-2237insTTTTTTT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121063381	G G	GAAAAAAA GAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02572.hp2 others(4): Show HG02109.hp1 HG02280.hp1 HG02572.hp2 HG02886.hp2 HG03041.hp1 HG03453.hp2 HG03540.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0009 a0001c0001 a0001c0003 a0004c0009	a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0004c0009t0001	a0001c0001t0002g0033 a0001c0001t0002g0051 a0001c0003t0001g0027 others(4): Show a0001c0001t0002g0033 a0001c0001t0002g0051 a0001c0003t0001g0027 a0001c0003t0001g0031 a0001c0003t0001g0126 a0001c0003t0002g0028 a0004c0009t0001g0029	7	140	0.0500	7	c.541 others(22): Show c.541-842_541-836dupAAAAAAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121074509	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02647.hp1 HG02896.hp2 others(3): Show HG02055.hp1 HG02647.hp1 HG02896.hp2 HG03209.hp1 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0008 a0001c0001 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0006 a0001c0007t0006 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0007t0006 a0001c0008t0006	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0006g0048 others(3): Show a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0007t0006g0107 a0001c0008t0006g0053	6	140	0.0429	7	c.616 others(26): Show c.616+10208_616+10214dupTTTTTTT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121117099	A A	ATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01081.hp1 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0075 a0002c0002t0004g0135 a0002c0002t0001g0075 a0002c0002t0004g0135	2	140	0.0143	7	c.919 others(24): Show c.919-7232_919-7231insTATATAT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	7/22			chr7	TogoVar
CPED1_chr7_120983711_121302442	121130721	C C	CCATTGCT CCATTGCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01928.hp2 HG01975.hp2 others(12): Show HG01884.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG02280.hp2 HG02723.hp1 HG02970.hp2 HG03041.hp2 HG03225.hp2 HG03453.hp1 NA18906.hp1 NA18979.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0003c0005 a0004c0009 a0001c0003 a0003c0005 a0004c0009	a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 others(4): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0009 a0003c0005t0003 a0004c0009t0001	a0001c0003t0001g0082 a0001c0003t0003g0004 a0001c0003t0003g0011 others(12): Show a0001c0003t0001g0082 a0001c0003t0003g0004 a0001c0003t0003g0011 a0001c0003t0003g0022 a0001c0003t0003g0023 a0001c0003t0003g0024 a0001c0003t0003g0025 a0001c0003t0003g0026 a0001c0003t0004g0066 a0001c0003t0007g0012 a0001c0003t0007g0013 a0001c0003t0009g0117 a0003c0005t0003g0016 a0003c0005t0003g0017 a0004c0009t0001g0050	15	140	0.1071	7	c.157 others(24): Show c.1577+432_1577+433insCTCATTG	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121279472	A A	ACAATAAG ACAATAAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01106.hp2 HG01257.hp1 others(22): Show HG00642.hp1 HG01106.hp2 HG01257.hp1 HG01884.hp1 HG02055.hp1 HG02056.hp1 HG02109.hp2 HG02572.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02976.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03540.hp1 HG03579.hp2 NA18952.hp2 NA19030.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0002c0004 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0001c0003t0013 a0001c0007t0006 a0001c0008t0001 a0001c0008t0006 a0002c0004t0001 a0007c0014t0002	a0001c0001t0001g0094 a0001c0001t0001g0106 a0001c0001t0001g0118 others(22): Show a0001c0001t0001g0094 a0001c0001t0001g0106 a0001c0001t0001g0118 a0001c0001t0002g0033 a0001c0001t0002g0042 a0001c0001t0002g0051 a0001c0001t0002g0078 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0138 a0001c0001t0003g0010 a0001c0001t0004g0041 a0001c0001t0004g0077 a0001c0001t0005g0003 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0124 a0001c0003t0001g0038 a0001c0003t0001g0082 a0001c0003t0013g0009 a0001c0007t0006g0107 a0001c0008t0001g0054 a0001c0008t0006g0053 a0002c0004t0001g0114 a0007c0014t0002g0072	25	140	0.1786	7	c.286 others(26): Show c.2868+8042_2868+8043insCAATAAG	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	22/22			chr7	TogoVar
CPED1_chr7_120983711_121302442	121279473	G G	GAATAAGA GAATAAGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01070.hp1 others(34): Show HG00639.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01361.hp1 HG01496.hp1 HG01884.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02809.hp1 HG02965.hp2 HG03041.hp2 HG03453.hp1 HG03540.hp2 HG04184.hp1 HG06807.hp2 NA18941.hp1 NA18998.hp2 NA19030.hp1 NA19043.hp1 NA19075.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0003c0005 a0003c0006 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0009 a0002c0002t0001 a0002c0002t0002 a0003c0005t0001 a0003c0005t0003 a0003c0006t0001 a0004c0009t0001	a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0083 others(34): Show a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0099 a0001c0001t0001g0120 a0001c0001t0002g0034 a0001c0001t0002g0062 a0001c0001t0002g0122 a0001c0001t0002g0132 a0001c0001t0003g0001 a0001c0001t0005g0018 a0001c0001t0005g0021 a0001c0003t0001g0037 a0001c0003t0001g0126 a0001c0003t0002g0125 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0003t0003g0004 a0001c0003t0003g0022 a0001c0003t0003g0024 a0001c0003t0009g0117 a0002c0002t0001g0080 a0002c0002t0001g0100 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0069 a0002c0002t0002g0102 a0002c0002t0002g0103 a0003c0005t0001g0046 a0003c0005t0003g0016 a0003c0005t0003g0017 a0003c0006t0001g0039 a0003c0006t0001g0040 a0003c0006t0001g0115 a0004c0009t0001g0029 a0004c0009t0001g0050	37	140	0.2643	7	c.286 others(26): Show c.2868+8048_2868+8049insGAAATAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPE_chr4_165374008_165503547	165424879	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00423.hp2 others(84): Show HG00099.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01934.hp1 HG01993.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02622.hp1 HG02698.hp1 HG02738.hp1 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03491.hp1 HG03540.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp2 HG04228.hp2 NA18747.hp2 NA18906.hp1 NA18943.hp1 NA18946.hp1 NA18949.hp1 NA18950.hp2 NA18953.hp1 NA18962.hp1 NA18967.hp1 NA18968.hp1 NA18971.hp2 NA18973.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18998.hp2 NA19001.hp2 NA19005.hp1 NA19009.hp2 NA19055.hp2 NA19057.hp1 NA19060.hp2 NA19064.hp1 NA19076.hp2 NA19081.hp1 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0003 a0001c0006t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0040 others(84): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0217 a0001c0001t0001g0229 a0001c0001t0001g0237 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0287 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0320 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0075 a0001c0001t0002g0080 a0001c0001t0002g0142 a0001c0001t0002g0155 a0001c0001t0003g0273 a0001c0001t0004g0169 a0001c0002t0003g0038 a0001c0006t0001g0039	87	332	0.2621	7	c.308 others(26): Show c.308-39504_308-39498dupTTTTTTT	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPE_chr4_165374008_165503547	165459686	G G	GGGGGGGT GGGGGGGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01071.hp2 HG01346.hp1 others(15): Show HG00621.hp1 HG01071.hp2 HG01346.hp1 HG02080.hp1 HG02132.hp1 HG02615.hp2 HG02965.hp2 HG03492.hp1 HG03654.hp2 HG03688.hp1 HG04115.hp1 NA18977.hp2 NA18978.hp2 NA18983.hp2 NA18992.hp1 NA18992.hp2 NA19060.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0014 a0001c0001t0001g0079 a0001c0001t0001g0201 others(15): Show a0001c0001t0001g0014 a0001c0001t0001g0079 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0027 a0001c0001t0002g0045 a0001c0001t0002g0049 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0317 a0001c0001t0003g0050 a0001c0001t0003g0062 a0001c0001t0003g0252 a0001c0001t0003g0261 a0001c0001t0005g0150	18	332	0.0542	7	c.308 others(24): Show c.308-4702_308-4701insGGGGTGG	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPHXL_chr16_75709131_75731490	75725753	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02109.hp1 HG02896.hp2 others(5): Show HG01257.hp2 HG02109.hp1 HG02896.hp2 HG02897.hp1 HG03579.hp1 NA18964.hp2 NA19043.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0063 a0001c0001t0001g0162 a0001c0001t0001g0163 others(3): Show a0001c0001t0001g0063 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0180 a0001c0003t0001g0023	8	388	0.0206	7	c.25+ others(20): Show c.25+658_25+664dupAAAAAAA	CPHXL	ENSG00000283755.2	transcript	ENST00000640559.2	protein_coding	1/2			chr16	TogoVar
CPLANE1_chr5_37101235_37254376	37187060	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02630.hp1 HG02647.hp1 others(4): Show HG01109.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02965.hp2 HG03195.hp2 NA20300.hp1	a0003 a0003	a0003c0004 a0003c0013 a0003c0004 a0003c0013	a0003c0004t0001 a0003c0013t0001 a0003c0004t0001 a0003c0013t0001	a0003c0004t0001g0053 a0003c0004t0001g0055 a0003c0004t0001g0060 others(4): Show a0003c0004t0001g0053 a0003c0004t0001g0055 a0003c0004t0001g0060 a0003c0004t0001g0061 a0003c0004t0001g0063 a0003c0013t0001g0058 a0003c0013t0001g0066	7	268	0.0261	7	c.408 others(24): Show c.4080+347_4080+353dupTTTTTTT	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	23/52			chr5	TogoVar
CPLX1_chr4_779957_831129	791183	G G	GGCGGGGA GGCGGGGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01167.hp1 HG01433.hp2 others(31): Show HG00423.hp1 HG01167.hp1 HG01433.hp2 HG01884.hp1 HG02055.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03471.hp2 HG03516.hp2 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp2 NA19081.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 others(4): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0018 a0001c0001t0021 a0001c0001t0025 a0001c0001t0027	a0001c0001t0007g0252 a0001c0001t0007g0279 a0001c0001t0008g0016 others(29): Show a0001c0001t0007g0252 a0001c0001t0007g0279 a0001c0001t0008g0016 a0001c0001t0008g0054 a0001c0001t0008g0131 a0001c0001t0008g0132 a0001c0001t0008g0133 a0001c0001t0008g0260 a0001c0001t0008g0284 a0001c0001t0008g0295 a0001c0001t0008g0299 a0001c0001t0008g0300 a0001c0001t0008g0335 a0001c0001t0008g0336 a0001c0001t0008g0339 a0001c0001t0008g0342 a0001c0001t0008g0343 a0001c0001t0008g0344 a0001c0001t0008g0345 a0001c0001t0011g0009 a0001c0001t0011g0087 a0001c0001t0011g0105 a0001c0001t0011g0146 a0001c0001t0011g0147 a0001c0001t0011g0153 a0001c0001t0011g0176 a0001c0001t0011g0328 a0001c0001t0011g0379 a0001c0001t0018g0024 a0001c0001t0021g0323 a0001c0001t0025g0210 a0001c0001t0027g0287	34	416	0.0817	7	c.207 others(24): Show c.207+1243_207+1249dupTCCCCGC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding	3/3			chr4	TogoVar
CPLX1_chr4_779957_831129	826313	C C	CGGGGGCG CGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02055.hp2 HG02109.hp1 others(17): Show HG01243.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp2 HG02976.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp2 NA19088.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0016 a0002c0002t0007	a0001c0001t0003g0080 a0001c0001t0003g0135 a0001c0001t0003g0136 others(16): Show a0001c0001t0003g0080 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0004g0038 a0001c0001t0006g0081 a0001c0001t0006g0190 a0001c0001t0006g0370 a0001c0001t0008g0008 a0001c0001t0016g0047 a0001c0001t0016g0048 a0002c0002t0007g0183	20	416	0.0481	7	c.-34 others(16): Show c.-348_-347insCGCCCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		185		chr4	TogoVar
CPLX1_chr4_779957_831129	826466	C C	CGGGGCGG CGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG02735.hp1 HG04115.hp1 others(3): Show HG00408.hp1 HG02735.hp1 HG04115.hp1 NA18955.hp2 NA18971.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010	a0001c0001t0001g0225 a0001c0001t0001g0234 a0001c0001t0005g0069 others(3): Show a0001c0001t0001g0225 a0001c0001t0001g0234 a0001c0001t0005g0069 a0001c0001t0005g0203 a0001c0001t0006g0109 a0001c0001t0010g0213	6	416	0.0144	7	c.-50 others(16): Show c.-501_-500insCCGCCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		338		chr4	TogoVar
CPLX1_chr4_779957_831129	826471	C C	CGGGGGCG CGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01981.hp2 HG02647.hp1 others(1): Show HG01928.hp1 HG01981.hp2 HG02647.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0104 a0001c0001t0001g0248 a0001c0001t0002g0289 others(1): Show a0001c0001t0001g0104 a0001c0001t0001g0248 a0001c0001t0002g0289 a0001c0001t0006g0081	4	416	0.0096	7	c.-50 others(16): Show c.-506_-505insCGCCCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		343		chr4	TogoVar
CPLX1_chr4_779957_831129	829221	C C	CCAGACAG CCAGACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(213): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18999.hp2 NA19003.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19068.hp1 NA19074.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0029 a0001c0003t0007 a0002c0002t0007	a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0139 others(199): Show a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0292 a0001c0001t0001g0383 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0001g0387 a0001c0001t0001g0388 a0001c0001t0001g0389 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0036 a0001c0001t0002g0129 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0175 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0318 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0347 a0001c0001t0002g0351 a0001c0001t0002g0378 a0001c0001t0003g0006 a0001c0001t0003g0020 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0168 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0258 a0001c0001t0003g0316 a0001c0001t0003g0352 a0001c0001t0003g0353 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0357 a0001c0001t0003g0358 a0001c0001t0003g0360 a0001c0001t0003g0361 a0001c0001t0003g0364 a0001c0001t0003g0365 a0001c0001t0003g0366 a0001c0001t0003g0367 a0001c0001t0003g0369 a0001c0001t0003g0373 a0001c0001t0003g0374 a0001c0001t0003g0375 a0001c0001t0003g0376 a0001c0001t0003g0380 a0001c0001t0003g0381 a0001c0001t0003g0382 a0001c0001t0003g0384 a0001c0001t0004g0128 a0001c0001t0004g0264 a0001c0001t0005g0130 a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0005g0142 a0001c0001t0005g0144 a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0005g0152 a0001c0001t0005g0154 a0001c0001t0005g0156 a0001c0001t0005g0170 a0001c0001t0005g0350 a0001c0001t0005g0363 a0001c0001t0005g0371 a0001c0001t0005g0372 a0001c0001t0006g0155 a0001c0001t0006g0190 a0001c0001t0006g0262 a0001c0001t0006g0266 a0001c0001t0006g0275 a0001c0001t0006g0278 a0001c0001t0006g0291 a0001c0001t0006g0306 a0001c0001t0006g0307 a0001c0001t0006g0317 a0001c0001t0006g0330 a0001c0001t0006g0331 a0001c0001t0006g0332 a0001c0001t0006g0370 a0001c0001t0006g0377 a0001c0001t0007g0138 a0001c0001t0007g0257 a0001c0001t0007g0259 a0001c0001t0007g0261 a0001c0001t0007g0279 a0001c0001t0007g0280 a0001c0001t0007g0282 a0001c0001t0007g0283 a0001c0001t0007g0293 a0001c0001t0007g0305 a0001c0001t0007g0320 a0001c0001t0008g0008 a0001c0001t0008g0016 a0001c0001t0008g0131 a0001c0001t0008g0132 a0001c0001t0008g0133 a0001c0001t0008g0260 a0001c0001t0008g0265 a0001c0001t0008g0284 a0001c0001t0008g0295 a0001c0001t0008g0299 a0001c0001t0008g0300 a0001c0001t0008g0335 a0001c0001t0008g0336 a0001c0001t0008g0339 a0001c0001t0009g0005 a0001c0001t0009g0037 a0001c0001t0009g0267 a0001c0001t0009g0268 a0001c0001t0009g0277 a0001c0001t0009g0294 a0001c0001t0009g0296 a0001c0001t0009g0297 a0001c0001t0009g0298 a0001c0001t0009g0301 a0001c0001t0009g0303 a0001c0001t0009g0304 a0001c0001t0009g0319 a0001c0001t0009g0329 a0001c0001t0009g0359 a0001c0001t0011g0009 a0001c0001t0011g0105 a0001c0001t0011g0146 a0001c0001t0011g0147 a0001c0001t0011g0153 a0001c0001t0011g0176 a0001c0001t0011g0328 a0001c0001t0011g0379 a0001c0001t0013g0015 a0001c0001t0015g0127 a0001c0001t0015g0302 a0001c0001t0017g0126 a0001c0001t0018g0024 a0001c0001t0019g0368 a0001c0001t0021g0323 a0001c0001t0022g0356 a0001c0001t0023g0348 a0001c0001t0024g0281 a0001c0001t0027g0287 a0001c0001t0029g0362 a0001c0003t0007g0327 a0002c0002t0007g0183	216	416	0.5192	7	c.-32 others(18): Show c.-3256_-3255insCTGTCTG	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		3093		chr4	TogoVar
CPLX4_chr18_59290402_59323649	59307753	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00558.hp1 others(60): Show HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00621.hp2 HG01074.hp1 HG01952.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp2 HG02129.hp2 HG02132.hp1 HG02293.hp1 HG02523.hp2 HG03017.hp1 HG03669.hp1 HG03710.hp2 HG03834.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18944.hp1 NA18945.hp2 NA18949.hp2 NA18951.hp2 NA18954.hp2 NA18959.hp2 NA18960.hp1 NA18964.hp2 NA18965.hp2 NA18972.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19063.hp2 NA19067.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19085.hp1 NA19085.hp2 NA19089.hp1 NA19090.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0017 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039	a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0191 others(46): Show a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0204 a0001c0001t0003g0005 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0156 a0001c0001t0003g0159 a0001c0001t0003g0172 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0229 a0001c0001t0003g0249 a0001c0001t0003g0251 a0001c0001t0010g0162 a0001c0001t0010g0170 a0001c0001t0017g0296 a0001c0001t0034g0200 a0001c0001t0035g0112 a0001c0001t0036g0148 a0001c0001t0037g0222 a0001c0001t0038g0150 a0001c0001t0039g0130	63	418	0.1507	7	c.255 others(24): Show c.255+4925_255+4931dupAAAAAAA	CPLX4	ENSG00000166569.8	transcript	ENST00000299721.3	protein_coding	2/2			chr18	TogoVar
CPM_chr12_68846175_68938171	68847187	G G	GTACATTA GTACATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG03130.hp1 NA19001.hp1 others(1): Show HG00544.hp2 HG03130.hp1 NA19001.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0006 a0001c0001t0051 a0001c0001t0052 others(1): Show a0001c0001t0006 a0001c0001t0051 a0001c0001t0052 a0002c0003t0027	a0001c0001t0006g0052 a0001c0001t0051g0067 a0001c0001t0052g0054 others(1): Show a0001c0001t0006g0052 a0001c0001t0051g0067 a0001c0001t0052g0054 a0002c0003t0027g0005	4	340	0.0118	7	c.92 others(18): Show c.9249_*9250insTAATGTA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3987		chr12	TogoVar
CPM_chr12_68846175_68938171	68847452	C C	CTTTTTTT CTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00639.hp1 HG00639.hp2 others(55): Show HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG01099.hp2 HG01106.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG02015.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02280.hp2 HG02572.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03579.hp1 HG03669.hp1 HG03834.hp2 HG03927.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18943.hp1 NA18947.hp1 NA18963.hp1 NA18968.hp1 NA18986.hp1 NA18994.hp1 NA19001.hp1 NA19062.hp1 NA19076.hp1 NA19083.hp1 NA19084.hp1 NA19086.hp2 NA19091.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0002c0003 a0002c0005 a0002c0008 a0002c0010	a0001c0001t0001 a0001c0001t0006 a0001c0001t0024 others(24): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0024 a0001c0001t0051 a0001c0002t0001 a0001c0002t0003 a0001c0002t0062 a0001c0002t0064 a0001c0002t0068 a0001c0004t0020 a0001c0004t0038 a0001c0006t0012 a0001c0006t0037 a0001c0006t0040 a0001c0007t0001 a0002c0003t0003 a0002c0003t0015 a0002c0003t0029 a0002c0003t0032 a0002c0003t0033 a0002c0003t0057 a0002c0005t0013 a0002c0005t0020 a0002c0005t0021 a0002c0005t0035 a0002c0008t0001 a0002c0010t0046	a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0129 others(55): Show a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0129 a0001c0001t0001g0152 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0215 a0001c0001t0001g0222 a0001c0001t0001g0237 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0277 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0338 a0001c0001t0006g0052 a0001c0001t0024g0216 a0001c0001t0051g0067 a0001c0002t0001g0043 a0001c0002t0001g0081 a0001c0002t0001g0097 a0001c0002t0001g0105 a0001c0002t0001g0119 a0001c0002t0001g0163 a0001c0002t0001g0174 a0001c0002t0001g0197 a0001c0002t0001g0257 a0001c0002t0001g0270 a0001c0002t0001g0284 a0001c0002t0001g0307 a0001c0002t0003g0276 a0001c0002t0062g0280 a0001c0002t0064g0101 a0001c0002t0068g0299 a0001c0004t0020g0069 a0001c0004t0038g0275 a0001c0006t0012g0225 a0001c0006t0037g0224 a0001c0006t0040g0242 a0001c0007t0001g0132 a0002c0003t0003g0015 a0002c0003t0003g0016 a0002c0003t0003g0033 a0002c0003t0015g0330 a0002c0003t0015g0332 a0002c0003t0029g0018 a0002c0003t0032g0335 a0002c0003t0033g0336 a0002c0003t0057g0008 a0002c0005t0013g0009 a0002c0005t0013g0013 a0002c0005t0020g0316 a0002c0005t0021g0331 a0002c0005t0035g0017 a0002c0008t0001g0312 a0002c0010t0046g0029	58	340	0.1706	7	c.89 others(18): Show c.8978_*8984dupAAAAAAA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3722		chr12	TogoVar
CPNE1_chr20_35621044_35669900	35627187	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02109.hp2 others(8): Show HG01884.hp2 HG01891.hp1 HG02109.hp2 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG03209.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0123 a0003c0003t0001g0004 a0003c0003t0001g0052 others(6): Show a0001c0001t0001g0123 a0003c0003t0001g0004 a0003c0003t0001g0052 a0003c0003t0001g0053 a0003c0003t0001g0056 a0003c0003t0001g0058 a0003c0003t0001g0059 a0003c0003t0001g0061 a0003c0003t0001g0063	11	272	0.0404	7	c.123 others(22): Show c.1236+86_1236+92dupTTTTTTT	CPNE1	ENSG00000214078.13	transcript	ENST00000397443.7	protein_coding	14/15			chr20	TogoVar
CPNE2_chr16_57087583_57153369	57087922	C C	CAAAAAAA CAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00558.hp1 others(20): Show HG00140.hp1 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG01069.hp2 HG01192.hp2 HG01257.hp1 HG01934.hp2 HG01952.hp2 HG02071.hp2 HG02559.hp1 HG03239.hp2 HG03704.hp1 NA18952.hp1 NA18961.hp1 NA18965.hp1 NA18989.hp2 NA19005.hp2 NA19011.hp1 NA19062.hp1 NA19066.hp2 NA19084.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0008 a0001c0001 a0001c0002 a0003c0008	a0001c0001t0001 a0001c0002t0001 a0003c0008t0001 a0001c0001t0001 a0001c0002t0001 a0003c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0001g0044 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0342 a0001c0002t0001g0060 a0003c0008t0001g0056	23	362	0.0635	7	c.-49 others(18): Show c.-4904_-4903insAAAAAAA	CPNE2	ENSG00000140848.17	transcript	ENST00000290776.13	protein_coding		4660		chr16	TogoVar
CPNE2_chr16_57087583_57153369	57114934	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00609.hp1 others(19): Show HG00280.hp1 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02572.hp2 HG02647.hp1 HG03486.hp2 NA18945.hp2 NA18952.hp1 NA18961.hp1 NA18967.hp1 NA19011.hp1 NA19057.hp1 NA19063.hp1 NA19066.hp2 NA19068.hp2 NA19084.hp1 NA19086.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0008 a0001c0001 a0001c0002 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0003c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0045 a0001c0001t0001g0055 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0158 a0001c0001t0001g0193 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0279 a0001c0001t0001g0342 a0001c0001t0002g0286 a0001c0001t0003g0102 a0001c0002t0001g0063 a0003c0008t0001g0056	22	362	0.0608	7	c.361 others(22): Show c.361-522_361-516dupAAAAAAA	CPNE2	ENSG00000140848.17	transcript	ENST00000290776.13	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE3_chr8_86509435_86566498	86522516	G G	GGATTTAC GGATTTAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18906.hp2 NA21309.hp1 HG03516.hp2 NA18906.hp2 NA21309.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0010 a0005c0007t0010	a0005c0007t0010g0278 a0005c0007t0010g0279 a0005c0007t0010g0280 a0005c0007t0010g0278 a0005c0007t0010g0279 a0005c0007t0010g0280	3	340	0.0088	7	c.-10 others(24): Show c.-10-6019_-10-6013dupGATTTAC	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE4_chr3_131528569_132040014	131717867	T T	TCCCTCCC TCCCTCCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02615.hp2 HG02895.hp1 others(3): Show HG02257.hp1 HG02615.hp2 HG02895.hp1 HG03225.hp1 NA18946.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0003t0010	a0001c0001t0001g0015 a0001c0001t0002g0070 a0001c0001t0003g0037 others(3): Show a0001c0001t0001g0015 a0001c0001t0002g0070 a0001c0001t0003g0037 a0001c0002t0001g0028 a0001c0002t0003g0061 a0001c0003t0010g0087	6	94	0.0638	7	c.360 others(24): Show c.360+5578_360+5579insGGGAGGG	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	3/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131876653	A A	AAAAAAAG AAAAAAAG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01884.hp2 HG02258.hp1 others(9): Show HG01169.hp2 HG01884.hp2 HG02258.hp1 HG02602.hp1 HG02735.hp1 HG03239.hp1 HG03239.hp2 HG03516.hp2 HG04228.hp2 NA18946.hp1 NA18962.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0002t0002 a0001c0005t0001	a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0036 others(9): Show a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0003g0037 a0001c0001t0005g0084 a0001c0001t0008g0064 a0001c0002t0002g0082 a0001c0005t0001g0012	12	94	0.1277	7	c.180 others(26): Show c.180+28610_180+28611insCTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131923704	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18939.hp1 NA18960.hp2 others(1): Show HG01496.hp1 NA18939.hp1 NA18960.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0001 a0001c0002t0014 a0001c0001t0007 a0001c0002t0001 a0001c0002t0014	a0001c0001t0007g0002 a0001c0002t0001g0030 a0001c0002t0001g0031 others(1): Show a0001c0001t0007g0002 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0014g0065	4	94	0.0426	7	c.-1- others(24): Show c.-1-18267_-1-18261dupTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131953238	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01069.hp2 others(28): Show HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01169.hp2 HG01884.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02647.hp1 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02922.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG04199.hp2 HG04228.hp2 NA18522.hp2 NA18939.hp2 NA18946.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18971.hp1 NA18990.hp2 NA19030.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0032 others(28): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0003g0034 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0005g0073 a0001c0001t0005g0077 a0001c0001t0005g0084 a0001c0001t0008g0066 a0001c0001t0009g0067 a0001c0002t0001g0030 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0002g0082 a0001c0002t0009g0068 a0001c0003t0001g0005 a0001c0003t0001g0044 a0001c0005t0001g0012	31	94	0.3298	7	c.-1- others(24): Show c.-1-47795_-1-47794insTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131955410	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp1 HG02922.hp1 others(2): Show HG02257.hp2 HG02622.hp1 HG02922.hp1 HG03098.hp2 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0006 a0001c0003 a0001c0004 a0001c0006	a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 others(1): Show a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0006t0004	a0001c0003t0001g0014 a0001c0003t0002g0071 a0001c0004t0001g0007 others(2): Show a0001c0003t0001g0014 a0001c0003t0002g0071 a0001c0004t0001g0007 a0001c0004t0001g0009 a0001c0006t0004g0008	5	94	0.0532	7	c.-1- others(24): Show c.-1-49973_-1-49967dupAAAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131978092	T T	TATATAAA TATATAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02486.hp1 others(13): Show HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02895.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp1 HG03516.hp2 NA18522.hp2 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0010 a0001c0004t0001 a0001c0006t0004	a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 others(13): Show a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0056 a0001c0001t0002g0075 a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0003t0001g0005 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0002g0071 a0001c0003t0010g0087 a0001c0004t0001g0007 a0001c0004t0001g0009 a0001c0004t0001g0055 a0001c0006t0004g0008	16	94	0.1702	7	c.-2+ others(24): Show c.-2+56474_-2+56475insTTTATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131978148	A A	ATTTATAT ATTTATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18906.hp1 HG02896.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0090 a0001c0001t0002g0074 a0001c0001t0002g0090	2	94	0.0213	7	c.-2+ others(24): Show c.-2+56418_-2+56419insATATAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131978200	A A	ATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03041.hp2 HG02647.hp1 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0044 a0001c0003t0003g0045 a0001c0003t0001g0044 a0001c0003t0003g0045	2	94	0.0213	7	c.-2+ others(24): Show c.-2+56366_-2+56367insATATATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131993472	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02602.hp1 HG03239.hp1 others(3): Show HG01069.hp2 HG02602.hp1 HG03239.hp1 HG03239.hp2 NA19007.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 a0001c0003t0003	a0001c0001t0001g0058 a0001c0001t0002g0079 a0001c0001t0002g0083 others(3): Show a0001c0001t0001g0058 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0005g0077 a0001c0002t0002g0082 a0001c0003t0003g0062	6	94	0.0638	7	c.-2+ others(24): Show c.-2+41088_-2+41094dupTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	132001549	A A	AGAGAAAG AGAGAAAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02896.hp1 HG02257.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0090 a0001c0002t0001g0028 a0001c0001t0002g0090 a0001c0002t0001g0028	2	94	0.0213	7	c.-2+ others(24): Show c.-2+33017_-2+33018insCTTTCTC	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	132027697	C C	CTTTTCCA CTTTTCCA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01081.hp1 others(57): Show HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01169.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG03516.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18960.hp1 NA18962.hp1 NA18966.hp2 NA18971.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 a0001c0002t0014 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0010 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0005t0015 a0001c0006t0004	a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 others(57): Show a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0005g0073 a0001c0001t0005g0077 a0001c0001t0005g0084 a0001c0001t0008g0064 a0001c0001t0008g0066 a0001c0001t0011g0093 a0001c0001t0013g0017 a0001c0002t0001g0006 a0001c0002t0001g0020 a0001c0002t0001g0031 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0002g0082 a0001c0002t0003g0061 a0001c0002t0003g0063 a0001c0002t0011g0094 a0001c0002t0014g0065 a0001c0003t0001g0005 a0001c0003t0001g0014 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0002g0071 a0001c0003t0002g0089 a0001c0003t0003g0062 a0001c0003t0010g0087 a0001c0004t0001g0007 a0001c0004t0001g0009 a0001c0004t0001g0055 a0001c0004t0002g0081 a0001c0004t0010g0086 a0001c0005t0015g0091 a0001c0006t0004g0008	60	94	0.6383	7	c.-2+ others(22): Show c.-2+6869_-2+6870insTGGAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE5_chr6_36735775_36844444	36834254	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01123.hp1 HG02886.hp2 others(4): Show HG01109.hp2 HG01123.hp1 HG02886.hp2 HG02895.hp2 HG03669.hp2 HG04184.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0002 a0001c0008t0006	a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0002t0001g0070 others(4): Show a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0002t0001g0070 a0001c0002t0002g0212 a0001c0002t0005g0071 a0001c0003t0002g0211 a0001c0008t0006g0069	7	380	0.0184	7	c.95+ others(22): Show c.95+5022_95+5028dupTTTTTTT	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	1/20			chr6	TogoVar
CPNE7_chr16_89570758_89602246	89587275	C C	CCCCTCCA CCCCTCCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03041.hp1 HG03139.hp1 others(1): Show HG02615.hp2 HG03041.hp1 HG03139.hp1 HG03516.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0001c0008 a0005c0026 a0001c0002 a0001c0008 a0005c0026	a0001c0002t0001 a0001c0002t0004 a0001c0008t0001 others(1): Show a0001c0002t0001 a0001c0002t0004 a0001c0008t0001 a0005c0026t0001	a0001c0002t0001g0322 a0001c0002t0004g0271 a0001c0008t0001g0005 others(1): Show a0001c0002t0001g0322 a0001c0002t0004g0271 a0001c0008t0001g0005 a0005c0026t0001g0017	4	348	0.0115	7	c.927 others(22): Show c.927+174_927+175insCCTCCAC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE8_chr12_38647203_38910591	38710268	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01884.hp2 HG01943.hp1 others(8): Show HG01261.hp1 HG01884.hp2 HG01943.hp1 HG02257.hp1 HG02293.hp1 HG02622.hp2 HG02809.hp2 NA18906.hp1 NA18954.hp1 NA18968.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0002t0010 a0001c0001t0003 a0001c0001t0006 a0001c0002t0010	a0001c0001t0003g0184 a0001c0001t0003g0217 a0001c0001t0003g0220 others(8): Show a0001c0001t0003g0184 a0001c0001t0003g0217 a0001c0001t0003g0220 a0001c0001t0003g0301 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0006g0101 a0001c0001t0006g0218 a0001c0002t0010g0077 a0001c0002t0010g0078	11	342	0.0322	7	c.915 others(24): Show c.915-7354_915-7348dupTTTTTTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38736234	T T	TGTGTGTG TGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp1 HG01169.hp2 others(4): Show HG00639.hp1 HG00733.hp1 HG01169.hp2 HG01934.hp2 NA19012.hp1 NA19086.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0023	a0001c0001t0001g0026 a0001c0001t0002g0073 a0001c0002t0002g0071 others(4): Show a0001c0001t0001g0026 a0001c0001t0002g0073 a0001c0002t0002g0071 a0001c0002t0002g0289 a0001c0002t0002g0292 a0001c0002t0002g0296 a0001c0002t0023g0080	7	342	0.0205	7	c.723 others(24): Show c.723-5877_723-5876insCACACAC	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38756039	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03139.hp1 HG03491.hp1 others(3): Show HG02071.hp2 HG03139.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014	a0001c0001t0001g0021 a0001c0001t0001g0233 a0001c0001t0005g0319 others(3): Show a0001c0001t0001g0021 a0001c0001t0001g0233 a0001c0001t0005g0319 a0001c0001t0006g0195 a0001c0001t0006g0196 a0001c0001t0014g0177	6	342	0.0175	7	c.722 others(24): Show c.722+4801_722+4807dupTTTTTTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPO_chr2_206934518_206974474	206943710	A A	AGATGATG AGATGATG	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18941.hp1 NA18992.hp2 others(1): Show NA18940.hp2 NA18941.hp1 NA18992.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 others(1): Show a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155	4	422	0.0095	7	c.68+ others(22): Show c.68+4046_68+4047insGATGGAT	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPQ_chr8_96640242_97148501	96663319	T T	TACATGAC TACATGAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG01081.hp2 others(73): Show HG00099.hp1 HG00733.hp1 HG01081.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp1 HG03579.hp1 HG03579.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18945.hp1 NA18949.hp2 NA18962.hp1 NA18964.hp2 NA18979.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19066.hp1 NA19066.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0008	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0002c0003 a0003c0005 a0004c0006 a0007c0009 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0004t0001 a0001c0007t0001 a0001c0008t0001 a0002c0003t0001 a0003c0005t0001 a0004c0006t0001 a0007c0009t0001 a0008c0011t0002	a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0047 others(73): Show a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0002g0029 a0001c0001t0002g0067 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0025 a0001c0002t0001g0040 a0001c0002t0001g0049 a0001c0002t0001g0055 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0081 a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0088 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0106 a0001c0002t0001g0111 a0001c0002t0001g0113 a0001c0002t0001g0115 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0002g0039 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0082 a0001c0002t0002g0085 a0001c0002t0003g0001 a0001c0004t0001g0107 a0001c0004t0001g0114 a0001c0007t0001g0038 a0001c0008t0001g0116 a0002c0003t0001g0008 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0087 a0002c0003t0001g0089 a0002c0003t0001g0118 a0003c0005t0001g0068 a0004c0006t0001g0074 a0004c0006t0001g0075 a0007c0009t0001g0062 a0008c0011t0002g0037	76	126	0.6032	7	c.-35 others(26): Show c.-35+17919_-35+17925dupCATGACA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96787525	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02622.hp2 HG02723.hp1 others(1): Show HG02040.hp2 HG02622.hp2 HG02723.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0125 others(1): Show a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0125 a0001c0001t0002g0021	4	126	0.0318	7	c.433 others(24): Show c.433+2219_433+2225dupTTTTTTT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97023057	A A	ATATACTG ATATACTG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19030.hp1 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0107 a0001c0004t0001g0114 a0001c0004t0001g0107 a0001c0004t0001g0114	2	126	0.0159	7	c.962 others(24): Show c.962-6342_962-6341insCTGTATA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPS1_chr2_210551599_210684107	210683081	C C	CTTTTTTT CTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(134): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp1 HG02071.hp1 HG02071.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA19001.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA20905.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009 a0012 a0018 a0019	a0001c0001 a0001c0006 a0001c0029 others(13): Show a0001c0001 a0001c0006 a0001c0029 a0002c0002 a0002c0005 a0002c0009 a0002c0013 a0002c0021 a0003c0003 a0004c0004 a0006c0010 a0007c0014 a0009c0030 a0012c0027 a0018c0019 a0019c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0018 a0001c0001t0025 a0001c0001t0029 a0001c0006t0001 a0001c0006t0002 a0001c0029t0007 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0015 a0002c0002t0021 a0002c0005t0001 a0002c0005t0008 a0002c0009t0007 a0002c0013t0007 a0002c0021t0002 a0003c0003t0004 a0004c0004t0002 a0004c0004t0005 a0006c0010t0008 a0007c0014t0007 a0009c0030t0007 a0012c0027t0016 a0018c0019t0001 a0019c0016t0002	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0094 others(133): Show a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0231 a0001c0001t0002g0007 a0001c0001t0002g0026 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0272 a0001c0001t0002g0275 a0001c0001t0002g0282 a0001c0001t0002g0291 a0001c0001t0002g0302 a0001c0001t0002g0326 a0001c0001t0007g0009 a0001c0001t0007g0013 a0001c0001t0007g0031 a0001c0001t0007g0032 a0001c0001t0007g0046 a0001c0001t0007g0057 a0001c0001t0007g0066 a0001c0001t0007g0254 a0001c0001t0007g0258 a0001c0001t0007g0285 a0001c0001t0007g0305 a0001c0001t0007g0306 a0001c0001t0007g0307 a0001c0001t0008g0096 a0001c0001t0008g0125 a0001c0001t0016g0327 a0001c0001t0018g0053 a0001c0001t0025g0043 a0001c0001t0029g0278 a0001c0006t0001g0088 a0001c0006t0001g0109 a0001c0006t0001g0115 a0001c0006t0002g0038 a0001c0006t0002g0296 a0001c0029t0007g0250 a0002c0002t0001g0076 a0002c0002t0001g0080 a0002c0002t0001g0147 a0002c0002t0001g0163 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0170 a0002c0002t0001g0172 a0002c0002t0001g0174 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0190 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0201 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0211 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0219 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0226 a0002c0002t0001g0238 a0002c0002t0002g0244 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0316 a0002c0002t0002g0318 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0321 a0002c0002t0002g0325 a0002c0002t0002g0328 a0002c0002t0003g0117 a0002c0002t0005g0202 a0002c0002t0007g0314 a0002c0002t0008g0142 a0002c0002t0008g0145 a0002c0002t0008g0188 a0002c0002t0015g0084 a0002c0002t0015g0171 a0002c0002t0021g0236 a0002c0005t0001g0180 a0002c0005t0001g0191 a0002c0005t0001g0192 a0002c0005t0008g0134 a0002c0005t0008g0237 a0002c0009t0007g0069 a0002c0013t0007g0073 a0002c0021t0002g0281 a0003c0003t0004g0251 a0003c0003t0004g0259 a0003c0003t0004g0260 a0003c0003t0004g0290 a0003c0003t0004g0330 a0004c0004t0002g0317 a0004c0004t0005g0151 a0006c0010t0008g0137 a0007c0014t0007g0061 a0007c0014t0007g0062 a0009c0030t0007g0074 a0012c0027t0016g0304 a0018c0019t0001g0110 a0019c0016t0002g0268	137	340	0.4029	7	c.50 others(18): Show c.5096_*5097insTTTTTTT	CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding		3975		chr2	TogoVar
CPSF1_chr8_144388231_144414335	144392939	C C	CACCTGTG CACCTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02622.hp1 HG02630.hp1 others(15): Show HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03195.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0033 a0001c0001 a0001c0033	a0001c0001t0001 a0001c0033t0001 a0001c0001t0001 a0001c0033t0001	a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0030 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0147 a0001c0033t0001g0063	18	350	0.0514	7	c.37 others(16): Show c.372_*378dupCACAGGT	CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding		291		chr8	TogoVar
CPSF1_chr8_144388231_144414335	144398491	C C	CCCCAGGT CCCCAGGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00438.hp2 others(143): Show HG00140.hp2 HG00280.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp2 NA18957.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19055.hp2 NA19056.hp2 NA19060.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19084.hp1 NA19087.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0009 a0010 a0012 a0014	a0001c0002 a0001c0003 a0001c0006 others(13): Show a0001c0002 a0001c0003 a0001c0006 a0001c0010 a0001c0023 a0001c0024 a0001c0027 a0001c0029 a0001c0030 a0003c0007 a0004c0036 a0005c0034 a0009c0028 a0010c0026 a0012c0025 a0014c0013	a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 others(13): Show a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0010t0001 a0001c0023t0001 a0001c0024t0001 a0001c0027t0001 a0001c0029t0001 a0001c0030t0001 a0003c0007t0001 a0004c0036t0001 a0005c0034t0001 a0009c0028t0001 a0010c0026t0001 a0012c0025t0001 a0014c0013t0001	a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0010 others(59): Show a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0024 a0001c0002t0001g0027 a0001c0002t0001g0037 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0141 a0001c0003t0001g0025 a0001c0003t0001g0056 a0001c0006t0001g0034 a0001c0006t0001g0035 a0001c0010t0001g0026 a0001c0023t0001g0071 a0001c0024t0001g0088 a0001c0027t0001g0084 a0001c0029t0001g0066 a0001c0030t0001g0087 a0003c0007t0001g0078 a0003c0007t0001g0079 a0004c0036t0001g0167 a0005c0034t0001g0094 a0009c0028t0001g0090 a0010c0026t0001g0156 a0012c0025t0001g0067 a0014c0013t0001g0082	146	350	0.4171	7	c.175 others(22): Show c.1752+27_1752+33dupACCTGGG	CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	18/37			chr8	TogoVar

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