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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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
PRPF40A_chr2_152646732_152722461	152715769	GTAAATTT others(22): Show GTAAATTTCTCAGAAGACTTTTTCATTATT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(35): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00642.hp2 HG00738.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02055.hp2 HG02148.hp1 HG02300.hp2 HG02602.hp2 HG02683.hp1 HG02735.hp2 HG03017.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp1 NA18955.hp1 NA18969.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0031	a0001c0001t0002g0145 a0001c0001t0002g0148 a0001c0001t0002g0149 others(31): Show a0001c0001t0002g0145 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0163 a0001c0001t0002g0167 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0005g0005 a0001c0001t0005g0013 a0001c0001t0005g0146 a0001c0001t0005g0151 a0001c0001t0005g0152 a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0005g0158 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0165 a0001c0001t0005g0166 a0001c0001t0005g0169 a0001c0001t0005g0171 a0001c0001t0005g0254 a0001c0001t0007g0012 a0001c0001t0007g0147 a0001c0001t0007g0157 a0001c0001t0007g0159 a0001c0001t0007g0164 a0001c0001t0007g0170 a0001c0001t0031g0168	38	372	0.1022	-29	c.342 others(44): Show c.342+197_342+225delAATAATGAAAAAGTCTTCTGAGAAATTTA	PRPF40A	ENSG00000196504.21	transcript	ENST00000545856.8	protein_coding	2/25			chr2	TogoVar
PRPF4_chr9_113270658_113297905	113285343	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03195.hp1 HG01192.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0164 a0001c0002t0003g0222 a0001c0001t0001g0164 a0001c0002t0003g0222	2	426	0.0047	-29	c.750 others(44): Show c.750-864_750-836delTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PRPF4	ENSG00000136875.13	transcript	ENST00000374198.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRR18_chr6_166300300_166313392	166313328	CATGAAAG others(22): Show CATGAAAGCCCTGTGAGAGCAGTACTAGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0000 a0001c0004t0006g0000	1	422	0.0024	-29	c.-52 others(40): Show c.-5215_-5187delTGCTAGTACTGCTCTCACAGGGCTTTCAT	PRR18	ENSG00000176381.6	transcript	ENST00000322583.5	protein_coding		4937		chr6	TogoVar
PRRG3_chrX_151690458_151710924	151703856	GGTTTTTT others(22): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(55): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01099.hp1 HG01123.hp1 HG01168.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01516.hp2 HG01943.hp1 HG01978.hp2 HG01993.hp2 HG02040.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02602.hp1 HG02976.hp1 HG03017.hp1 HG04115.hp1 HG04204.hp1 NA18939.hp1 NA18940.hp1 NA18942.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18957.hp1 NA18966.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18987.hp2 NA18997.hp1 NA19003.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19068.hp1 NA19072.hp1 NA19081.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0005 a0009 others(1): Show a0001 a0005 a0009 a0010	a0001c0001 a0001c0005 a0001c0007 others(3): Show a0001c0001 a0001c0005 a0001c0007 a0005c0006 a0009c0012 a0010c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(19): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0033 a0001c0001t0044 a0001c0001t0046 a0001c0001t0121 a0001c0001t0124 a0001c0001t0129 a0001c0001t0131 a0001c0001t0132 a0001c0001t0156 a0001c0001t0170 a0001c0001t0193 a0001c0005t0002 a0001c0007t0069 a0005c0006t0003 a0009c0012t0130 a0010c0013t0033	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0014 others(28): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0026 a0001c0001t0002g0060 a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0011g0002 a0001c0001t0013g0001 a0001c0001t0013g0016 a0001c0001t0015g0001 a0001c0001t0017g0001 a0001c0001t0033g0013 a0001c0001t0044g0004 a0001c0001t0046g0001 a0001c0001t0121g0001 a0001c0001t0124g0001 a0001c0001t0129g0001 a0001c0001t0131g0001 a0001c0001t0132g0033 a0001c0001t0156g0001 a0001c0001t0170g0002 a0001c0001t0193g0010 a0001c0005t0002g0001 a0001c0007t0069g0011 a0005c0006t0003g0006 a0009c0012t0130g0009 a0010c0013t0033g0039	58	336	0.1726	-29	c.28 others(40): Show c.2824_*2852delGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PRRG3	ENSG00000130032.17	transcript	ENST00000674457.1	protein_coding	4/4	2824		chrX	TogoVar
PRRG3_chrX_151690458_151710924	151703887	TTTTTTTT others(22): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01928.hp1 HG01952.hp1 HG02004.hp2 others(5): Show HG01928.hp1 HG01952.hp1 HG02004.hp2 HG03834.hp1 HG03927.hp1 NA18951.hp2 NA19009.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0144 a0001c0001t0006 a0001c0001t0144	a0001c0001t0006g0001 a0001c0001t0144g0011 a0001c0001t0006g0001 a0001c0001t0144g0011	8	336	0.0238	-29	c.28 others(40): Show c.2856_*2884delTTTTTTTTTTTTTTTTTTTTTTTTTGTGT	PRRG3	ENSG00000130032.17	transcript	ENST00000674457.1	protein_coding	4/4	2856	INFO_REALIGN_3_PRIME	chrX	TogoVar
PRSS12_chr4_118275038_118358003	118299741	TAAAATAA others(22): Show TAAAATAAATAAAATAAATAAAATTAAATA	T T	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18987.hp1 NA19006.hp1 NA18966.hp1 NA18987.hp1 NA19006.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096	3	364	0.0082	-29	c.163 others(46): Show c.1632-832_1632-804delTATTTAATTTTATTTATTTTATTTATTT T	PRSS12	ENSG00000164099.3	transcript	ENST00000296498.3	protein_coding	8/12			chr4	TogoVar
PRSS12_chr4_118275038_118358003	118299746	TAAATAAA others(22): Show TAAATAAAATAAATAAAATTAAATAAAATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG00733.hp1 others(11): Show HG00323.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG01071.hp2 HG01167.hp2 HG01192.hp1 HG01258.hp2 HG02293.hp1 NA18975.hp2 NA18991.hp1 NA19005.hp2 NA19011.hp2 NA19012.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0004 a0002c0002 a0004c0007 a0001c0004 a0002c0002 a0004c0007	a0001c0004t0001 a0002c0002t0001 a0004c0007t0001 a0001c0004t0001 a0002c0002t0001 a0004c0007t0001	a0001c0004t0001g0269 a0002c0002t0001g0007 a0002c0002t0001g0021 others(8): Show a0001c0004t0001g0269 a0002c0002t0001g0007 a0002c0002t0001g0021 a0002c0002t0001g0066 a0002c0002t0001g0071 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0083 a0002c0002t0001g0099 a0004c0007t0001g0106	14	364	0.0385	-29	c.163 others(46): Show c.1632-837_1632-809delTATTTTATTTAATTTTATTTATTTTATT T	PRSS12	ENSG00000164099.3	transcript	ENST00000296498.3	protein_coding	8/12			chr4	TogoVar
PRSS12_chr4_118275038_118358003	118299764	TTAAATAA others(22): Show TTAAATAAAATAAAATAAAATAAAATAAAA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01928.hp1 HG01978.hp1 others(6): Show HG01346.hp2 HG01928.hp1 HG01978.hp1 HG02273.hp2 HG02293.hp2 NA19009.hp2 NA19057.hp1 NA19068.hp2 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0001 a0002c0002t0001 a0001c0004t0001 a0002c0002t0001	a0001c0004t0001g0242 a0002c0002t0001g0002 a0002c0002t0001g0065 others(2): Show a0001c0004t0001g0242 a0002c0002t0001g0002 a0002c0002t0001g0065 a0002c0002t0001g0077 a0002c0002t0001g0087	9	364	0.0247	-29	c.163 others(46): Show c.1632-855_1632-827delTTTTATTTTATTTTATTTTATTTTATTT A	PRSS12	ENSG00000164099.3	transcript	ENST00000296498.3	protein_coding	8/12			chr4	TogoVar
PRUNE2_chr9_76606376_76911114	76791208	TATACTGC others(22): Show TATACTGCACCAATTATCATTGGTACAATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00621.hp2 others(33): Show HG00140.hp1 HG00140.hp2 HG00621.hp2 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01934.hp2 HG02027.hp1 HG02572.hp2 HG02622.hp2 HG02698.hp2 HG02723.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03486.hp2 HG03540.hp1 HG03654.hp1 HG04204.hp2 HG06807.hp2 NA18950.hp1 NA19043.hp2 NA19056.hp2 NA19068.hp1 NA19240.hp1 NA19240.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010 a0022 a0030 a0032 a0040 a0043	a0001c0001 a0001c0045 a0002c0012 others(13): Show a0001c0001 a0001c0045 a0002c0012 a0003c0003 a0003c0015 a0004c0004 a0005c0005 a0005c0026 a0005c0033 a0008c0008 a0010c0013 a0022c0057 a0030c0049 a0032c0040 a0040c0056 a0043c0023	a0001c0001t0001 a0001c0001t0004 a0001c0001t0020 others(21): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0020 a0001c0001t0031 a0001c0045t0003 a0002c0012t0034 a0003c0003t0001 a0003c0003t0004 a0003c0003t0006 a0003c0003t0011 a0003c0015t0004 a0004c0004t0001 a0005c0005t0001 a0005c0005t0002 a0005c0005t0006 a0005c0026t0002 a0005c0033t0029 a0008c0008t0001 a0010c0013t0002 a0022c0057t0003 a0030c0049t0002 a0032c0040t0005 a0040c0056t0001 a0043c0023t0001	a0001c0001t0001g0031 a0001c0001t0001g0095 a0001c0001t0001g0137 others(33): Show a0001c0001t0001g0031 a0001c0001t0001g0095 a0001c0001t0001g0137 a0001c0001t0004g0134 a0001c0001t0020g0238 a0001c0001t0031g0127 a0001c0045t0003g0226 a0002c0012t0034g0236 a0003c0003t0001g0064 a0003c0003t0001g0162 a0003c0003t0001g0208 a0003c0003t0001g0223 a0003c0003t0004g0098 a0003c0003t0004g0108 a0003c0003t0004g0109 a0003c0003t0004g0183 a0003c0003t0006g0107 a0003c0003t0011g0003 a0003c0015t0004g0177 a0004c0004t0001g0076 a0004c0004t0001g0079 a0004c0004t0001g0207 a0005c0005t0001g0015 a0005c0005t0001g0116 a0005c0005t0002g0176 a0005c0005t0006g0014 a0005c0026t0002g0215 a0005c0033t0029g0106 a0008c0008t0001g0113 a0008c0008t0001g0118 a0010c0013t0002g0123 a0022c0057t0003g0117 a0030c0049t0002g0017 a0032c0040t0005g0159 a0040c0056t0001g0150 a0043c0023t0001g0224	36	240	0.1500	-29	c.756 others(48): Show c.756+32395_756+32423delTATTGTACCAATGATAATTGGTGCAG TAT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76791602	CATTGGTA others(22): Show CATTGGTACAATAATACTGCACCAATTATT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA19074.hp1 HG01433.hp1 NA19074.hp1	a0004 a0008 a0004 a0008	a0004c0004 a0008c0008 a0004c0004 a0008c0008	a0004c0004t0001 a0008c0008t0010 a0004c0004t0001 a0008c0008t0010	a0004c0004t0001g0220 a0008c0008t0010g0063 a0004c0004t0001g0220 a0008c0008t0010g0063	2	240	0.0083	-29	c.756 others(48): Show c.756+32001_756+32029delAATAATTGGTGCAGTATTATTGTACC AAT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PSAPL1_chr4_7425285_7439930	7437898	TGTCCACA others(22): Show TGTCCACACACATGTATATATTTGCACGTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	456	0.0022	-29	c.-30 others(40): Show c.-3048_-3020delTACGTGCAAATATATACATGTGTGTGGAC	PSAPL1	ENSG00000178597.7	transcript	ENST00000319098.7	protein_coding		2969		chr4	TogoVar
PSAPL1_chr4_7425285_7439930	7439389	ACCAATCC others(22): Show ACCAATCCATAGCACTGTGAAATGCAAACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0000 a0001c0003t0004g0000	1	456	0.0022	-29	c.-45 others(40): Show c.-4539_-4511delGGTTTGCATTTCACAGTGCTATGGATTGG	PSAPL1	ENSG00000178597.7	transcript	ENST00000319098.7	protein_coding		4460		chr4	TogoVar
PSAPL1_chr4_7425285_7439930	7439832	AACATGGC others(22): Show AACATGGCTGCTCCAAACATCTTGGTGACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	456	0.0022	-29	c.-49 others(40): Show c.-4982_-4954delCGTCACCAAGATGTTTGGAGCAGCCATGT	PSAPL1	ENSG00000178597.7	transcript	ENST00000319098.7	protein_coding		4903		chr4	TogoVar
PSD3_chr8_18522303_19018703	18760424	AACCACCA others(22): Show AACCACCATTTAACTCCATGAATCTGTGAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp2 HG01243.hp2 others(23): Show HG00280.hp1 HG01070.hp2 HG01243.hp2 HG01496.hp1 HG01884.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02145.hp1 HG02148.hp1 HG02273.hp2 HG02451.hp1 HG03704.hp1 NA18522.hp1 NA18939.hp1 NA18944.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18970.hp1 NA18998.hp1 NA18999.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19081.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0009 a0010 a0012	a0001c0001 a0001c0017 a0001c0023 others(10): Show a0001c0001 a0001c0017 a0001c0023 a0001c0025 a0002c0003 a0002c0015 a0002c0032 a0003c0004 a0004c0006 a0004c0021 a0009c0024 a0010c0034 a0012c0018	a0001c0001t0001 a0001c0001t0016 a0001c0001t0021 others(20): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0021 a0001c0001t0024 a0001c0001t0054 a0001c0001t0057 a0001c0017t0005 a0001c0023t0015 a0001c0025t0023 a0002c0003t0001 a0002c0003t0018 a0002c0003t0071 a0002c0015t0001 a0002c0032t0046 a0003c0004t0001 a0003c0004t0013 a0003c0004t0082 a0004c0006t0014 a0004c0006t0079 a0004c0021t0001 a0009c0024t0062 a0010c0034t0001 a0012c0018t0056	a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0208 others(23): Show a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0208 a0001c0001t0016g0078 a0001c0001t0021g0130 a0001c0001t0024g0027 a0001c0001t0054g0083 a0001c0001t0057g0065 a0001c0017t0005g0011 a0001c0017t0005g0037 a0001c0023t0015g0189 a0001c0025t0023g0162 a0002c0003t0001g0104 a0002c0003t0018g0204 a0002c0003t0071g0102 a0002c0015t0001g0129 a0002c0032t0046g0116 a0003c0004t0001g0044 a0003c0004t0013g0019 a0003c0004t0082g0215 a0004c0006t0014g0050 a0004c0006t0079g0216 a0004c0021t0001g0112 a0009c0024t0062g0185 a0010c0034t0001g0058 a0012c0018t0056g0201	26	228	0.1140	-29	c.217 others(48): Show c.2172+4996_2172+5024delCTCACAGATTCATGGAGTTAAATGGT GGT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSEN1_chr14_73131507_73228691	73202436	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0304 a0001c0001t0004g0304	1	378	0.0027	-29	c.869 others(46): Show c.869-3948_869-3920delATATATATATATATATATATATATATTT T	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSG4_chr19_43187702_43210638	43205079	CCTTTTCT others(22): Show CCTTTTCTTCTTTTTTCTTTTTTTCCTTTT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA18944.hp1 NA18970.hp1 others(1): Show HG01256.hp1 NA18944.hp1 NA18970.hp1 NA19086.hp1	a0002 a0018 a0002 a0018	a0002c0002 a0018c0038 a0002c0002 a0018c0038	a0002c0002t0003 a0018c0038t0006 a0002c0002t0003 a0018c0038t0006	a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0003g0181 others(1): Show a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0003g0181 a0018c0038t0006g0183	4	300	0.0133	-29	c.64+ others(42): Show c.64+365_64+393delAAAAGGAAAAAAAGAAAAAAGAAGAAAAG	PSG4	ENSG00000243137.8	transcript	ENST00000405312.8	protein_coding	1/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933283	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	416	0.0024	-29	c.430 others(46): Show c.430+2092_430+2120delAAAAATATATATATATATATATATATAT A	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSMB2_chr1_35594541_35646526	35628589	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0084 a0001c0001t0026g0084	1	300	0.0033	-29	c.285 others(46): Show c.285+2656_285+2684delATATATATATATATATATATATTTTTTT T	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35628591	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19043.hp1 HG03195.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0027 a0001c0001t0025 a0001c0001t0027	a0001c0001t0025g0085 a0001c0001t0027g0038 a0001c0001t0025g0085 a0001c0001t0027g0038	2	300	0.0067	-29	c.285 others(46): Show c.285+2654_285+2682delATATATATATATATATATATATATTTTT T	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSME4_chr2_53859069_53975993	53868526	TATATAAT others(22): Show TATATAATATATATTATAAATATATTTATA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0017 a0017	a0017c0031 a0017c0031	a0017c0031t0002 a0017c0031t0002	a0017c0031t0002g0021 a0017c0031t0002g0021	1	384	0.0026	-29	c.526 others(46): Show c.5263+821_5263+849delTATAAATATATTTATAATATATATTATA T	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	44/46			chr2	TogoVar
PTBP1_chr19_792452_817312	811360	CCAGGGCC others(22): Show CCAGGGCCTTCCCTTCTGCCCCCAGGCGGG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp1 HG03471.hp1 HG02486.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0087 a0001c0001t0011g0088 a0001c0001t0011g0087 a0001c0001t0011g0088	2	388	0.0052	-29	c.53 others(38): Show c.536_*564delAGGGCCTTCCCTTCTGCCCCCAGGCGGGC	PTBP1	ENSG00000011304.22	transcript	ENST00000356948.11	protein_coding	15/15	536	INFO_REALIGN_3_PRIME	chr19	TogoVar
PTBP3_chr9_112213435_112338619	112231960	AAGAGAAG others(22): Show AAGAGAAGAGAGAAGAGAAGAGAAGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01433.hp1 HG03942.hp1 others(4): Show HG01261.hp2 HG01433.hp1 HG03942.hp1 HG06807.hp2 NA18940.hp2 NA19082.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0082 a0001c0001t0003g0085 others(4): Show a0001c0001t0003g0068 a0001c0001t0003g0082 a0001c0001t0003g0085 a0001c0001t0003g0147 a0001c0001t0003g0208 a0001c0001t0003g0267 a0001c0001t0003g0334	7	342	0.0205	-29	c.102 others(46): Show c.1020+110_1020+138delCTTCTCTTCTCTTCTCTTCTCTCTTCTC T	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	9/13			chr9	TogoVar
PTK2B_chr8_27320552_27464386	27350991	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0317 a0002c0006t0002g0317	1	328	0.0031	-29	c.-38 others(48): Show c.-38+25311_-38+25339delTATATATATATATATATATATATATA TAT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30			chr8	TogoVar
PTK2B_chr8_27320552_27464386	27426558	CAGACATT others(22): Show CAGACATTCCCAAGATGTTCAGTTGCTCCA	C C	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18968.hp2 NA18980.hp2 others(5): Show NA18949.hp2 NA18968.hp2 NA18980.hp2 NA18990.hp1 NA19003.hp1 NA19012.hp2 NA19074.hp1 NA19077.hp1	a0002 a0008 a0002 a0008	a0002c0003 a0002c0004 a0008c0020 a0002c0003 a0002c0004 a0008c0020	a0002c0003t0002 a0002c0004t0002 a0008c0020t0002 a0002c0003t0002 a0002c0004t0002 a0008c0020t0002	a0002c0003t0002g0012 a0002c0004t0002g0001 a0002c0004t0002g0011 others(3): Show a0002c0003t0002g0012 a0002c0004t0002g0001 a0002c0004t0002g0011 a0002c0004t0002g0013 a0002c0004t0002g0191 a0008c0020t0002g0014	8	328	0.0244	-29	c.552 others(46): Show c.552-3504_552-3476delGACATTCCCAAGATGTTCAGTTGCTCCA A	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	5/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK6_chr20_63523001_63542376	63524390	GGTACCAG others(22): Show GGTACCAGGATGAGTCAGGACGGAGCAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	344	0.0029	-29	c.51 others(40): Show c.5117_*5145delACCTGCTCCGTCCTGACTCATCCTGGTAC	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding		3610		chr20	TogoVar
PTK7_chr6_43071314_43166715	43157350	ATATATAT others(22): Show ATATATATATATATATTTTTTTTTTTCTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02965.hp1 NA19043.hp2 HG02258.hp2 HG02965.hp1 NA19043.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0162 a0003c0003t0002g0163 a0003c0003t0002g0178 a0003c0003t0002g0162 a0003c0003t0002g0163 a0003c0003t0002g0178	3	272	0.0110	-29	c.272 others(48): Show c.2722-1465_2722-1437delATATATATATATATTTTTTTTTTTCT TTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTP4A2_chr1_31901421_31943368	31908135	TTATATTA others(22): Show TTATATTATATATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp1 HG01952.hp1 HG02027.hp1 others(3): Show HG01261.hp1 HG01952.hp1 HG02027.hp1 HG02976.hp2 NA18985.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0101 a0001c0001t0102 a0001c0001t0008 a0001c0001t0101 a0001c0001t0102	a0001c0001t0008g0198 a0001c0001t0008g0267 a0001c0001t0008g0325 others(3): Show a0001c0001t0008g0198 a0001c0001t0008g0267 a0001c0001t0008g0325 a0001c0001t0008g0328 a0001c0001t0101g0316 a0001c0001t0102g0319	6	354	0.0170	-29	c.68 others(38): Show c.688_*716delTATATATATATATATATATATATAATATA	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6	688		chr1	TogoVar
PTPRD_chr9_8309246_10618002	8726589	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA19240.hp2 HG03834.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0009 a0001c0007 a0002c0009	a0001c0007t0021 a0002c0009t0006 a0001c0007t0021 a0002c0009t0006	a0001c0007t0021g0002 a0002c0009t0006g0007 a0001c0007t0021g0002 a0002c0009t0006g0007	2	34	0.0588	-29	c.64+ others(44): Show c.64+7162_64+7190delATATATATATATATATATATATATATATA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	12/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	8919840	GTGCATGT others(22): Show GTGCATGTATCATGCATACATAGATGTACA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0023 a0001c0001t0019g0023	1	34	0.0294	-29	c.-10 others(50): Show c.-104+98828_-104+98856delTGTACATCTATGTATGCATGATAC ATGCA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	11/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9947504	ATATATAT others(22): Show ATATATATAATATATATATTATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0008 a0001c0001t0014g0008	1	34	0.0294	-29	c.-47 others(48): Show c.-471-8923_-471-8895delAAATATATATAATATATATATTATAT ATA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	4/45			chr9	TogoVar
PTPRO_chr12_15317508_15603331	15513110	AGGAAGGA others(22): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	164	0.0061	-29	c.146 others(48): Show c.1465-2386_1465-2358delGAAGGAAGGAAGGAAGGAAGGAAGGA AGG	PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRQ_chr12_80439235_80685273	80558139	TTTTCTTT others(22): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0147 a0007c0010t0001g0147	1	178	0.0056	-29	c.428 others(48): Show c.4285+8424_4285+8452delCTTTTCTTTTCTTTCTTTTCTTTTCT TTT	PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRS_chr19_5200508_5345812	5272595	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02622.hp2 HG02630.hp1 others(4): Show HG02109.hp2 HG02622.hp2 HG02630.hp1 HG02735.hp1 HG04184.hp1 HG06807.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0001c0014 a0001c0022 others(2): Show a0001c0010 a0001c0014 a0001c0022 a0001c0061 a0002c0062	a0001c0010t0020 a0001c0014t0001 a0001c0014t0012 others(3): Show a0001c0010t0020 a0001c0014t0001 a0001c0014t0012 a0001c0022t0009 a0001c0061t0036 a0002c0062t0013	a0001c0010t0020g0159 a0001c0014t0001g0019 a0001c0014t0001g0144 others(4): Show a0001c0010t0020g0159 a0001c0014t0001g0019 a0001c0014t0001g0144 a0001c0014t0012g0050 a0001c0022t0009g0156 a0001c0061t0036g0049 a0002c0062t0013g0151	7	276	0.0254	-29	c.379 others(44): Show c.379+818_379+846delTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	4/37			chr19	TogoVar
PUS7_chr7_105451503_105527271	105524767	CCTGGGAG others(22): Show CCTGGGAGGTGGAGGTTGGGGTGCGTCGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0332 a0001c0001t0019g0332	1	350	0.0029	-29	c.-27 others(40): Show c.-2777_-2749delCCCGACGCACCCCAACCTCCACCTCCCAG	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		2497		chr7	TogoVar
PVR_chr19_44638910_44671162	44665757	TGGTGCCA others(22): Show TGGTGCCAAGATGGCTGCTGCATTCCAGGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0079 a0002c0002t0079	a0002c0002t0079g0040 a0002c0002t0079g0040	1	412	0.0024	-29	c.39 others(40): Show c.3947_*3975delGGTGCCAAGATGGCTGCTGCATTCCAGGC	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding	8/8	3947		chr19	TogoVar
PVR_chr19_44638910_44671162	44667876	TAAATATA others(22): Show TAAATATATATAAATTATATATAATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0010 a0001c0001t0095g0010	1	412	0.0024	-29	c.60 others(40): Show c.6066_*6094delAAATATATATAAATTATATATAATATATA	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		1715		chr19	TogoVar
PVR_chr19_44638910_44671162	44668226	ATATTATA others(22): Show ATATTATATTTATATAATATGTTTATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01255.hp2 HG02155.hp1 others(15): Show HG00673.hp2 HG01255.hp2 HG02155.hp1 NA18612.hp1 NA18747.hp2 NA18957.hp1 NA18965.hp1 NA18969.hp2 NA18977.hp2 NA18990.hp2 NA19001.hp1 NA19007.hp2 NA19057.hp2 NA19064.hp1 NA19065.hp2 NA19072.hp2 NA19084.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0080 a0002c0002t0004 a0002c0002t0006	a0001c0001t0001g0018 a0001c0001t0001g0039 a0001c0001t0001g0119 others(11): Show a0001c0001t0001g0018 a0001c0001t0001g0039 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0003g0201 a0001c0001t0007g0118 a0001c0001t0080g0206 a0002c0002t0004g0007 a0002c0002t0004g0040 a0002c0002t0004g0140 a0002c0002t0004g0142 a0002c0002t0004g0145 a0002c0002t0006g0002 a0002c0002t0006g0141	18	412	0.0437	-29	c.64 others(40): Show c.6416_*6444delTATTATATTTATATAATATGTTTATATAT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		2065		chr19	TogoVar
PWWP2B_chr10_132392200_132422859	132419480	GGGGGCCT others(22): Show GGGGGCCTGGAGGAGGGGTCTCCTGGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02258.hp1 HG01106.hp1 HG02258.hp1	a0003 a0004 a0003 a0004	a0003c0005 a0004c0006 a0003c0005 a0004c0006	a0003c0005t0001 a0004c0006t0001 a0003c0005t0001 a0004c0006t0001	a0003c0005t0001g0083 a0004c0006t0001g0072 a0003c0005t0001g0083 a0004c0006t0001g0072	2	374	0.0054	-29	c.24 others(40): Show c.2437_*2465delGGGGCCTGGAGGAGGGGTCTCCTGGGGGA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		1622		chr10	TogoVar
PWWP2B_chr10_132392200_132422859	132419595	GGGGGCCT others(22): Show GGGGGCCTGGAGGAGGGGTCTCCTGGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0083 a0003c0005t0001g0083	1	374	0.0027	-29	c.25 others(40): Show c.2552_*2580delGGGGCCTGGAGGAGGGGTCTCCTGGGGGA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		1737		chr10	TogoVar
PXDNL_chr8_51314577_51814445	51577914	AAAAGAAA others(22): Show AAAAGAAAGAAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0001 a0011c0017t0001	a0011c0017t0001g0054 a0011c0017t0001g0054	1	122	0.0082	-29	c.308 others(48): Show c.308+14684_308+14712delCTTTCTTTCTTTCTTTCTTTTCTTTC TTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	3/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51608033	GAAAGAAA others(22): Show GAAAGAAAGAAAGAAAGAAAGAAAGCAAGC	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0003 a0003c0005t0003g0003	1	122	0.0082	-29	c.237 others(48): Show c.237-15364_237-15336delGCTTGCTTTCTTTCTTTCTTTCTTTC TTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PXMP2_chr12_132682587_132709985	132692576	TAGTTAGT others(22): Show TAGTTAGTGAGCGCCCTTGCCAGTTAGTTA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03471.hp1 HG03139.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0070 a0001c0005t0005g0071 a0001c0005t0005g0070 a0001c0005t0005g0071	2	350	0.0057	-29	c.236 others(46): Show c.236+2204_236+2232delTAGTGAGCGCCCTTGCCAGTTAGTTAAG T	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PXMP4_chr20_33697758_33725310	33718995	AAGCGGTT others(22): Show AAGCGGTTCTCCTGCCTCAGCCTCCCATGT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0045 a0001c0008t0045	a0001c0008t0045g0053 a0001c0008t0045g0053	1	388	0.0026	-29	c.113 others(46): Show c.113+1071_113+1099delACATGGGAGGCTGAGGCAGGAGAACCGC T	PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding	1/3			chr20	TogoVar
PYM1_chr12_55896413_55932894	55905876	TTAGATAT others(22): Show TTAGATATATATATTATTATATATATCTAA	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02040.hp2 HG04228.hp1 others(1): Show HG01928.hp1 HG02040.hp2 HG04228.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0008g0078 others(1): Show a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0008g0078 a0001c0001t0008g0079	4	344	0.0116	-29	c.38- others(44): Show c.38-2425_38-2397delTTAGATATATATAATAATATATATATCTA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
PYROXD2_chr10_98378568_98420182	98407675	AGACTGTC others(22): Show AGACTGTCACCAGGGGTCACCAGGGATGAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(180): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19004.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19068.hp1 NA19070.hp2 NA19075.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19086.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0017 a0001c0018 others(4): Show a0001c0001 a0001c0017 a0001c0018 a0002c0008 a0003c0005 a0003c0006 a0006c0019	a0001c0001t0001 a0001c0017t0001 a0001c0018t0001 others(4): Show a0001c0001t0001 a0001c0017t0001 a0001c0018t0001 a0002c0008t0001 a0003c0005t0001 a0003c0006t0001 a0006c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(115): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0017t0001g0191 a0001c0018t0001g0233 a0002c0008t0001g0212 a0002c0008t0001g0219 a0002c0008t0001g0220 a0003c0005t0001g0038 a0003c0005t0001g0039 a0003c0005t0001g0234 a0003c0005t0001g0235 a0003c0005t0001g0236 a0003c0005t0001g0237 a0003c0005t0001g0238 a0003c0005t0001g0239 a0003c0005t0001g0240 a0003c0005t0001g0241 a0003c0005t0001g0242 a0003c0005t0001g0243 a0003c0005t0001g0244 a0003c0005t0001g0245 a0003c0005t0001g0246 a0003c0005t0001g0247 a0003c0005t0001g0248 a0003c0005t0001g0249 a0003c0005t0001g0250 a0003c0005t0001g0251 a0003c0006t0001g0176 a0003c0006t0001g0177 a0003c0006t0001g0178 a0003c0006t0001g0179 a0003c0006t0001g0180 a0006c0019t0001g0286	183	418	0.4378	-29	c.242 others(42): Show c.242-49_242-21delCTCATCCCTGGTGACCCCTGGTGACAGTC	PYROXD2	ENSG00000119943.13	transcript	ENST00000370575.5	protein_coding	3/15			chr10	TogoVar
PYROXD2_chr10_98378568_98420182	98407744	AGGGGTCA others(22): Show AGGGGTCAGCAGGGATGGAGACCGTCACCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(186): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19004.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19068.hp1 NA19070.hp2 NA19075.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19086.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0004 a0001c0017 others(5): Show a0001c0001 a0001c0004 a0001c0017 a0001c0018 a0002c0008 a0003c0005 a0003c0006 a0006c0019	a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 others(6): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 a0001c0017t0001 a0001c0018t0001 a0002c0008t0001 a0003c0005t0001 a0003c0006t0001 a0006c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(120): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0004t0001g0047 a0001c0004t0002g0027 a0001c0004t0002g0051 a0001c0004t0002g0052 a0001c0004t0002g0053 a0001c0017t0001g0191 a0001c0018t0001g0233 a0002c0008t0001g0212 a0002c0008t0001g0219 a0002c0008t0001g0220 a0003c0005t0001g0038 a0003c0005t0001g0039 a0003c0005t0001g0234 a0003c0005t0001g0235 a0003c0005t0001g0236 a0003c0005t0001g0237 a0003c0005t0001g0238 a0003c0005t0001g0239 a0003c0005t0001g0240 a0003c0005t0001g0241 a0003c0005t0001g0242 a0003c0005t0001g0243 a0003c0005t0001g0244 a0003c0005t0001g0245 a0003c0005t0001g0246 a0003c0005t0001g0247 a0003c0005t0001g0248 a0003c0005t0001g0249 a0003c0005t0001g0250 a0003c0005t0001g0251 a0003c0006t0001g0176 a0003c0006t0001g0177 a0003c0006t0001g0178 a0003c0006t0001g0179 a0003c0006t0001g0180 a0006c0019t0001g0286	189	418	0.4522	-29	c.242 others(43): Show c.242-118_242-90delGGGTGACGGTCTCCATCCCTGCTGACCCC	PYROXD2	ENSG00000119943.13	transcript	ENST00000370575.5	protein_coding	3/15			chr10	TogoVar
R3HCC1L_chr10_98129657_98249897	98205313	AACTAGAA others(22): Show AACTAGAAATTAGCTATGGGAAGAATGTTT	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA20905.hp1 HG03834.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0274 a0001c0001t0002g0236 a0001c0001t0002g0274	2	388	0.0052	-29	c.-14 others(46): Show c.-14-2785_-14-2757delTAGAAATTAGCTATGGGAAGAATGTTTA C	R3HCC1L	ENSG00000166024.14	transcript	ENST00000298999.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
RAB11FIP3_chr16_420649_528011	492487	TCCCGGGA others(22): Show TCCCGGGAGACCCGAGGCCGCCCAGGGCCC	T T	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0137 a0001c0001t0007g0137	1	295	0.0034	-29	c.126 others(48): Show c.1265+3488_1265+3516delCCCGGGAGACCCGAGGCCGCCCAGGG CCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RAB11FIP4_chr17_31386675_31543211	31445556	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03831.hp2 NA19009.hp1 others(1): Show HG02698.hp1 HG03831.hp2 NA19009.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0031 a0001c0001t0003 a0001c0001t0018 a0001c0001t0031	a0001c0001t0003g0103 a0001c0001t0003g0271 a0001c0001t0018g0105 others(1): Show a0001c0001t0003g0103 a0001c0001t0003g0271 a0001c0001t0018g0105 a0001c0001t0031g0268	4	310	0.0129	-29	c.336 others(48): Show c.336+11436_336+11464delATATATATATATATATATATATTTTT TTT	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB11FIP4_chr17_31386675_31543211	31445560	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	310	0.0032	-29	c.336 others(48): Show c.336+11440_336+11468delATATATATATATATATATTTTTTTTT TTT	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar

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