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
OR8G1_chr11_124236095_124259364	124244025	AGAGAGGG others(33): Show AGAGAGGGAGAGAGAGATGGAGAGAGAACGAGGAAAGGATG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0054 a0001c0003t0002g0054	1	430	0.0023	-40	c.-97 others(57): Show c.-97+2707_-97+2746delGGAGAGAGAGATGGAGAGAGAACGAGGA AAGGATGGAGAG	OR8G1	ENSG00000197849.7	transcript	ENST00000641972.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
OR9Q1_chr11_58018881_58186616	58037677	ATATATAT others(33): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02451.hp1 HG02486.hp1 others(9): Show HG00323.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp2 HG03579.hp2 HG03704.hp1 NA18906.hp1 NA19091.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0208 others(9): Show a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0003g0238 a0001c0002t0001g0239 a0001c0002t0001g0269	12	324	0.0370	-40	c.-93 others(59): Show c.-93+13575_-93+13614delATATATATATATTTTTTTTTTTTTTT TTTTTTTTTTTTTT	OR9Q1	ENSG00000186509.4	transcript	ENST00000335397.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
OSBPL10_chr3_31655825_31986262	31812718	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG03041.hp2 NA18969.hp2 HG01256.hp2 HG03041.hp2 NA18969.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0003 a0001c0001t0001 a0001c0002t0001 a0002c0003t0003	a0001c0001t0001g0111 a0001c0002t0001g0117 a0002c0003t0003g0168 a0001c0001t0001g0111 a0001c0002t0001g0117 a0002c0003t0003g0168	3	186	0.0161	-40	c.729 others(59): Show c.729+17282_729+17321delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31837338	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATAGTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(63): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01516.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02135.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02809.hp1 HG02809.hp2 HG02897.hp1 HG03017.hp1 HG03139.hp2 HG03704.hp1 HG03704.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18940.hp1 NA18950.hp2 NA18959.hp2 NA18966.hp1 NA18969.hp2 NA18982.hp1 NA18983.hp1 NA19060.hp1 NA19060.hp2 NA19070.hp2 NA19074.hp2 NA19086.hp2 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(13): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0001c0024 a0001c0036 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0012 a0002c0038 a0003c0011 a0003c0013 a0003c0019 a0003c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0002t0001 a0001c0002t0008 a0001c0006t0002 a0001c0010t0001 a0001c0024t0001 a0001c0036t0002 a0002c0003t0001 a0002c0003t0003 a0002c0004t0001 a0002c0005t0002 a0002c0005t0007 a0002c0007t0004 a0002c0007t0005 a0002c0012t0003 a0002c0038t0003 a0003c0011t0004 a0003c0011t0005 a0003c0013t0002 a0003c0019t0001 a0003c0021t0002	a0001c0001t0001g0024 a0001c0001t0001g0053 a0001c0001t0001g0066 others(63): Show a0001c0001t0001g0024 a0001c0001t0001g0053 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0087 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0133 a0001c0001t0001g0145 a0001c0001t0001g0155 a0001c0001t0002g0055 a0001c0001t0002g0084 a0001c0001t0002g0156 a0001c0001t0003g0163 a0001c0001t0010g0183 a0001c0002t0001g0021 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0048 a0001c0002t0001g0051 a0001c0002t0001g0061 a0001c0002t0001g0117 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0001g0128 a0001c0002t0001g0132 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0002t0008g0139 a0001c0006t0002g0056 a0001c0010t0001g0102 a0001c0024t0001g0016 a0001c0036t0002g0063 a0002c0003t0001g0028 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0057 a0002c0003t0001g0067 a0002c0003t0001g0101 a0002c0003t0001g0105 a0002c0003t0001g0124 a0002c0003t0001g0158 a0002c0003t0003g0168 a0002c0003t0003g0173 a0002c0004t0001g0040 a0002c0004t0001g0080 a0002c0004t0001g0109 a0002c0004t0001g0119 a0002c0004t0001g0120 a0002c0005t0002g0029 a0002c0005t0002g0108 a0002c0005t0002g0116 a0002c0005t0007g0164 a0002c0005t0007g0171 a0002c0007t0004g0042 a0002c0007t0004g0136 a0002c0007t0005g0165 a0002c0012t0003g0176 a0002c0012t0003g0177 a0002c0012t0003g0178 a0002c0038t0003g0179 a0003c0011t0004g0003 a0003c0011t0005g0162 a0003c0013t0002g0012 a0003c0019t0001g0007 a0003c0021t0002g0013	66	186	0.3548	-40	c.538 others(57): Show c.538-7147_538-7108delTACTATATATATATATATATATATATAT ATATATATATAT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
OSBPL5_chr11_3082107_3170310	3103784	GTCCCTTC others(33): Show GTCCCTTCCTGCCTCTGCAGCCCTCTTCCTGCCTGCGCAGC	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	326	0.0031	-40	c.124 others(57): Show c.1244+369_1244+408delGCTGCGCAGGCAGGAAGAGGGCTGCAGA GGCAGGAAGGGA	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	10/21			chr11	TogoVar
OSBPL5_chr11_3082107_3170310	3103815	CCTGCGCA others(33): Show CCTGCGCAGCCCCCTTCCAGCCTCTGCAGCCCCTTTCCAGT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	326	0.0031	-40	c.124 others(57): Show c.1244+338_1244+377delACTGGAAAGGGGCTGCAGAGGCTGGAAG GGGGCTGCGCAG	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	10/21			chr11	TogoVar
OSBPL5_chr11_3082107_3170310	3103841	CAGCCCCT others(33): Show CAGCCCCTTTCCAGTCTGCGCAGCCCCCTTCCTGCCTCTGT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0017 a0002c0003t0003g0017	1	326	0.0031	-40	c.124 others(57): Show c.1244+312_1244+351delACAGAGGCAGGAAGGGGGCTGCGCAGAC TGGAAAGGGGCT	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	10/21			chr11	TogoVar
OSBPL5_chr11_3082107_3170310	3103859	CGCAGCCC others(33): Show CGCAGCCCCCTTCCTGCCTCTGTAGCCCCATTCCTGCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02258.hp2 others(7): Show HG01884.hp2 HG02109.hp2 HG02258.hp2 HG02451.hp2 HG02886.hp2 HG03041.hp1 HG03195.hp2 HG03540.hp2 NA19030.hp1 NA20129.hp1	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0002 a0001c0007 a0006c0029 others(1): Show a0001c0002 a0001c0007 a0006c0029 a0010c0024	a0001c0002t0005 a0001c0002t0032 a0001c0007t0005 others(2): Show a0001c0002t0005 a0001c0002t0032 a0001c0007t0005 a0006c0029t0005 a0010c0024t0005	a0001c0002t0005g0044 a0001c0002t0005g0165 a0001c0002t0005g0286 others(7): Show a0001c0002t0005g0044 a0001c0002t0005g0165 a0001c0002t0005g0286 a0001c0002t0032g0126 a0001c0007t0005g0008 a0001c0007t0005g0042 a0001c0007t0005g0280 a0001c0007t0005g0281 a0006c0029t0005g0170 a0010c0024t0005g0164	10	326	0.0307	-40	c.124 others(57): Show c.1244+294_1244+333delAGAGGCAGGAATGGGGCTACAGAGGCAG GAAGGGGGCTGC	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	10/21			chr11	TogoVar
OSGEPL1_chr2_189741660_189767792	189742905	GACACACA others(33): Show GACACACACACACACACACACACACACACACACACACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0010 a0002c0003t0001g0010	1	358	0.0028	-40	c.42 others(51): Show c.4252_*4291delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	OSGEPL1	ENSG00000128694.12	transcript	ENST00000264151.10	protein_coding		3754		chr2	TogoVar
OSMR_chr5_38841012_38940641	38862720	ATGGCGGC others(33): Show ATGGCGGCCGGGAAGAGGCGCTCCTCACTTCCCAGACGGGG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18522.hp2 HG02965.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	2	382	0.0052	-40	c.-13 others(57): Show c.-13-6300_-13-6261delAAGAGGCGCTCCTCACTTCCCAGACGGG GTGGCGGCCGGG	OSMR	ENSG00000145623.13	transcript	ENST00000274276.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
OSTF1_chr9_75083514_75152265	75128541	TATATTTT others(33): Show TATATTTTGTCCATATATATATATATATATATATTTTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA18953.hp2 HG01361.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0127 a0001c0001t0017g0068 a0001c0001t0002g0127 a0001c0001t0017g0068	2	366	0.0055	-40	c.132 others(55): Show c.132+927_132+966delTTTGTCCATATATATATATATATATATATT TTGTCCATAT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
P2RX5_chr17_3668227_3701155	3699874	AAAGGAAG others(33): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01081.hp2 HG02015.hp1 others(11): Show HG01074.hp2 HG01081.hp2 HG02015.hp1 HG02015.hp2 HG02698.hp1 HG03492.hp1 HG03688.hp2 HG03710.hp1 HG03942.hp2 HG04184.hp2 NA18993.hp2 NA19007.hp2 NA19012.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0007 a0001c0001t0001g0124 a0001c0001t0001g0131 others(11): Show a0001c0001t0001g0007 a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0262 a0001c0001t0001g0297 a0001c0001t0002g0114 a0001c0001t0002g0129 a0001c0001t0002g0142 a0002c0002t0001g0155 a0002c0002t0001g0162 a0002c0002t0001g0172 a0002c0002t0002g0126	14	362	0.0387	-40	c.-39 others(51): Show c.-3909_-3870delCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTT	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding		3720		chr17	TogoVar
P2RX5_chr17_3668227_3701155	3699881	GGAAGGAA others(33): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01175.hp1 HG01884.hp1 others(2): Show HG01099.hp1 HG01175.hp1 HG01884.hp1 HG03130.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0006	a0001c0001t0001g0017 a0002c0002t0001g0198 a0002c0002t0001g0289 others(2): Show a0001c0001t0001g0017 a0002c0002t0001g0198 a0002c0002t0001g0289 a0002c0002t0004g0025 a0002c0002t0006g0183	5	362	0.0138	-40	c.-39 others(51): Show c.-3916_-3877delTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTC	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding		3727		chr17	TogoVar
P2RY12_chr3_151331843_151389753	151368604	TATTTTAT others(33): Show TATTTTATTTTATTTTATTTTATTTTATTTCATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp1 HG02818.hp2 others(2): Show HG02109.hp2 HG02451.hp1 HG02818.hp2 HG02896.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0284 a0001c0001t0003g0287 others(1): Show a0001c0001t0003g0025 a0001c0001t0003g0284 a0001c0001t0003g0287 a0001c0001t0003g0288	5	396	0.0126	-40	c.-18 others(61): Show c.-180+16048_-180+16087delGAAATGAAATGAAATAAAATAAAA TAAAATAAAATAAAAT	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
P2RY12_chr3_151331843_151389753	151368637	TTCATTTC others(33): Show TTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATG	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA20129.hp1 HG02976.hp2 NA20129.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0152 a0002c0004t0005g0153 a0002c0004t0005g0152 a0002c0004t0005g0153	2	396	0.0051	-40	c.-18 others(61): Show c.-180+16015_-180+16054delCATGAAATGAAATGAAATGAAATG AAATGAAATGAAATGA	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
P2RY12_chr3_151331843_151389753	151368677	GTCATTTC others(33): Show GTCATTTCATTTTATTTCATTTCATTTCATTTCATTTCATT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02135.hp2 NA18948.hp2 others(9): Show HG00621.hp1 HG02135.hp2 NA18948.hp2 NA18967.hp1 NA18986.hp2 NA19010.hp2 NA19012.hp2 NA19055.hp1 NA19063.hp1 NA19075.hp2 NA19084.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0057 others(7): Show a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0057 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0122	12	396	0.0303	-40	c.-18 others(61): Show c.-180+15975_-180+16014delAATGAAATGAAATGAAATGAAATG AAATAAAATGAAATGA	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
PAAF1_chr11_73871999_73936114	73897343	CCAGACGG others(33): Show CCAGACGGGGTGGCTGCTGGGCGGAGGGGCTCCTCACTTCT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19087.hp1 HG02615.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0162 a0001c0001t0031g0028 a0001c0001t0001g0162 a0001c0001t0031g0028	2	370	0.0054	-40	c.283 others(57): Show c.283-1753_283-1714delTGGCTGCTGGGCGGAGGGGCTCCTCACT TCTCAGACGGGG	PAAF1	ENSG00000175575.13	transcript	ENST00000310571.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACRG_chr6_162722974_163320500	163269931	CAAAGAAA others(33): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG01109.hp2 others(1): Show HG00140.hp1 HG00323.hp2 HG01109.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012	a0001c0001t0003g0014 a0001c0001t0004g0079 a0001c0001t0007g0125 others(1): Show a0001c0001t0003g0014 a0001c0001t0004g0079 a0001c0001t0007g0125 a0001c0001t0012g0010	4	130	0.0308	-40	c.614 others(59): Show c.614-44859_614-44820delAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACSIN2_chr22_42864773_43020149	42981481	GGCGGGGG others(33): Show GGCGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0276 a0001c0002t0003g0276	1	294	0.0034	-40	c.-78 others(59): Show c.-78+33500_-78+33539delACCTCCCTCCCGGACGGGGCGGCTGG CCGACCCCCCCCGC	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42981776	GGTGGGTC others(33): Show GGTGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0184 a0001c0001t0001g0185	2	294	0.0068	-40	c.-78 others(59): Show c.-78+33205_-78+33244delTCCCGGACTGGGCGGCTGGCCGGGCG GGGGGCTGACCCAC	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42990013	TATACACA others(33): Show TATACACACATATGTATATATATGTATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp2 HG03579.hp2 HG02559.hp2 HG02630.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0129 a0001c0001t0002g0141 a0001c0001t0013g0130 a0001c0001t0002g0129 a0001c0001t0002g0141 a0001c0001t0013g0130	3	294	0.0102	-40	c.-78 others(59): Show c.-78+24968_-78+25007delGTATATATATATATATACATATATAT ACATATGTGTGTAT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PADI1_chr1_17200128_17251007	17250335	CCTCTCTT others(33): Show CCTCTCTTTGCTAGATACCAGCAGCACACTCCCGAGTTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0093 a0001c0004t0001g0093	1	406	0.0025	-40	c.60 others(51): Show c.6093_*6132delCTCTCTTTGCTAGATACCAGCAGCACACTCCCGA GTTGTG	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding		4329		chr1	TogoVar
PAH_chr12_102831889_102922244	102868136	ATATATAT others(33): Show ATATATATATATATATATACACATATATATACATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	312	0.0032	-40	c.442 others(57): Show c.442-1513_442-1474delCACATATATGTATATATATGTGTATATA TATATATATATA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAIP1_chr5_43521267_43562077	43522186	GGCTGCCC others(33): Show GGCTGCCCCGTCTGAGAAGTGAGGAGTCCCTCCGCCCGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0280 a0002c0008t0001g0280	1	350	0.0029	-40	c.51 others(51): Show c.5150_*5189delTGCCGGGCGGAGGGACTCCTCACTTCTCAGACGG GGCAGC	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding		4080		chr5	TogoVar
PAIP1_chr5_43521267_43562077	43522270	GCCCCGTC others(33): Show GCCCCGTCTGGGAAGTGAGGAGCCCCTCCGCCCGGCAGCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 NA18960.hp2 NA18962.hp1 HG00733.hp2 NA18960.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0229 a0001c0001t0002g0132 a0001c0001t0001g0002 a0001c0001t0001g0229 a0001c0001t0002g0132	3	350	0.0086	-40	c.50 others(51): Show c.5066_*5105delTGGCTGCCGGGCGGAGGGGCTCCTCACTTCCCAG ACGGGG	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding		3996		chr5	TogoVar
PAK4_chr19_39120786_39184404	39147062	TCAATTGA others(33): Show TCAATTGACAATTGTCATTGTCAATTGTCAATGACAATGTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(238): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(3): Show a0001 a0003 a0006 a0007 a0008 a0011	a0001c0001 a0001c0002 a0001c0005 others(12): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0016 a0001c0018 a0001c0019 a0001c0021 a0003c0008 a0006c0013 a0007c0014 a0008c0015 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0002t0007 a0001c0005t0007 a0001c0006t0011 a0001c0007t0002 a0001c0009t0005 a0001c0016t0018 a0001c0018t0001 a0001c0019t0002 a0001c0021t0005 a0003c0008t0012 a0006c0013t0003 a0007c0014t0002 a0008c0015t0001 a0011c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(237): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0161 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0246 a0001c0001t0001g0261 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0001g0365 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0348 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0043 a0001c0001t0003g0061 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0085 a0001c0001t0003g0103 a0001c0001t0003g0110 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0133 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0199 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0245 a0001c0001t0003g0256 a0001c0001t0003g0260 a0001c0001t0003g0273 a0001c0001t0004g0275 a0001c0001t0004g0281 a0001c0001t0004g0294 a0001c0001t0004g0336 a0001c0001t0004g0347 a0001c0001t0004g0349 a0001c0001t0004g0350 a0001c0001t0004g0351 a0001c0001t0004g0355 a0001c0001t0004g0356 a0001c0001t0004g0357 a0001c0001t0004g0358 a0001c0001t0005g0074 a0001c0001t0005g0095 a0001c0001t0005g0104 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0005g0162 a0001c0001t0005g0233 a0001c0001t0006g0264 a0001c0001t0006g0265 a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0006g0270 a0001c0001t0006g0271 a0001c0001t0009g0153 a0001c0001t0009g0154 a0001c0001t0009g0155 a0001c0001t0010g0283 a0001c0001t0010g0284 a0001c0001t0013g0263 a0001c0001t0013g0272 a0001c0001t0014g0096 a0001c0001t0014g0097 a0001c0001t0015g0311 a0001c0001t0016g0285 a0001c0001t0017g0286 a0001c0001t0019g0005 a0001c0001t0021g0046 a0001c0002t0007g0021 a0001c0002t0007g0022 a0001c0002t0007g0023 a0001c0002t0007g0024 a0001c0005t0007g0195 a0001c0006t0011g0276 a0001c0006t0011g0277 a0001c0007t0002g0320 a0001c0007t0002g0321 a0001c0009t0005g0163 a0001c0009t0005g0173 a0001c0016t0018g0241 a0001c0018t0001g0080 a0001c0019t0002g0322 a0001c0021t0005g0004 a0003c0008t0012g0011 a0003c0008t0012g0087 a0006c0013t0003g0121 a0007c0014t0002g0339 a0008c0015t0001g0008 a0011c0010t0001g0114	241	368	0.6549	-40	c.-96 others(59): Show c.-96+21144_-95-21128delCAATTGACAATTGTCATTGTCAATTG TCAATGACAATGTC	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9			chr19	TogoVar
PAK5_chr20_9532370_9844076	9766371	TCAAGCAG others(33): Show TCAAGCAGAATATATATGTATATATATATTCAAGCAGAATA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0203 a0001c0002t0007g0203	1	208	0.0048	-40	c.-16 others(61): Show c.-161-54976_-161-54937delTATTCTGCTTGAATATATATATAC ATATATATTCTGCTTG	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PALB2_chr16_23598165_23646310	23645083	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	326	0.0031	-40	c.-39 others(51): Show c.-3966_-3927delTATATATATATATATATATATATATATATATATA TATATA	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		3774		chr16	TogoVar
PALB2_chr16_23598165_23646310	23645099	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01243.hp1 others(1): Show HG01167.hp2 HG01169.hp2 HG01243.hp1 HG02630.hp2	a0002 a0004 a0002 a0004	a0002c0006 a0004c0004 a0002c0006 a0004c0004	a0002c0006t0001 a0004c0004t0001 a0002c0006t0001 a0004c0004t0001	a0002c0006t0001g0292 a0004c0004t0001g0022 a0004c0004t0001g0291 a0002c0006t0001g0292 a0004c0004t0001g0022 a0004c0004t0001g0291	4	326	0.0123	-40	c.-39 others(51): Show c.-3982_-3943delAATATATATATATATATATATATATATATATATA TATATA	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		3790		chr16	TogoVar
PALB2_chr16_23598165_23646310	23645105	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02970.hp1 HG02970.hp2 HG02145.hp1 HG02970.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0212 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0212	3	326	0.0092	-40	c.-39 others(51): Show c.-3988_-3949delAAAAAAAATATATATATATATATATATATATATA TATATA	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		3796		chr16	TogoVar
PAM_chr5_102750305_103034716	102780753	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	188	0.0053	-40	c.-37 others(61): Show c.-374+25449_-374+25488delTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCT	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102803142	AAAGAAAG others(33): Show AAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	188	0.0053	-40	c.-37 others(61): Show c.-374+47798_-374+47837delAAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAG	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102803146	AAAGGAAG others(33): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00597.hp2 others(79): Show HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00642.hp1 HG00738.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01346.hp2 HG01496.hp1 HG01515.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02630.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03239.hp2 HG03486.hp2 HG03492.hp2 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18957.hp1 NA18964.hp1 NA18971.hp1 NA18983.hp1 NA18995.hp2 NA19005.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19064.hp1 NA19068.hp1 NA19082.hp1 NA19084.hp2 NA19086.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0008	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0012 a0002c0004 a0003c0003 a0004c0006 a0006c0008 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0002t0004 a0001c0005t0002 a0001c0012t0008 a0002c0004t0001 a0003c0003t0001 a0004c0006t0001 a0006c0008t0003 a0008c0011t0003	a0001c0001t0001g0003 a0001c0001t0001g0028 a0001c0001t0001g0034 others(79): Show a0001c0001t0001g0003 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0068 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0098 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0087 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0093 a0001c0001t0003g0114 a0001c0001t0003g0129 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0153 a0001c0001t0003g0156 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0172 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0180 a0001c0001t0003g0185 a0001c0002t0002g0064 a0001c0002t0002g0120 a0001c0002t0002g0125 a0001c0002t0002g0130 a0001c0002t0002g0133 a0001c0002t0002g0143 a0001c0002t0002g0149 a0001c0002t0002g0171 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0004g0134 a0001c0002t0004g0155 a0001c0002t0004g0169 a0001c0005t0002g0046 a0001c0012t0008g0124 a0002c0004t0001g0158 a0003c0003t0001g0154 a0004c0006t0001g0152 a0006c0008t0003g0183 a0008c0011t0003g0174	82	188	0.4362	-40	c.-37 others(61): Show c.-374+47821_-374+47860delGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102803169	GGAAGGAA others(33): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0002 a0001c0005t0002g0002	1	188	0.0053	-40	c.-37 others(61): Show c.-374+47847_-374+47886delAAGGAAGGAAGGAAAGAAGGAAGG AAGGAAGGAAGGAAGG	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102882052	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02965.hp2 HG03516.hp1 others(1): Show HG02895.hp2 HG02965.hp2 HG03516.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0151 others(1): Show a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0151 a0001c0002t0004g0041	4	188	0.0213	-40	c.210 others(59): Show c.210+14679_210+14718delTATATATATATATATATATATATATA TATATATATATATA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAPSS2_chr10_87654878_87752705	87701319	CCTTCCTT others(33): Show CCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18991.hp1 NA18943.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0107 a0001c0001t0013g0138 a0001c0001t0013g0107 a0001c0001t0013g0138	2	372	0.0054	-40	c.28- others(55): Show c.28-7873_28-7834delCCTTCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAQR5_chr15_69293912_69412780	69300841	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18964.hp1 NA19088.hp1 HG00673.hp2 NA18964.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0013 a0002c0002t0002 a0001c0001t0001 a0001c0001t0013 a0002c0002t0002	a0001c0001t0001g0052 a0001c0001t0013g0113 a0002c0002t0002g0076 a0001c0001t0001g0052 a0001c0001t0013g0113 a0002c0002t0002g0076	3	284	0.0106	-40	c.-27 others(59): Show c.-277+1800_-277+1839delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69355304	CTTTCTTT others(33): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18954.hp2 NA18969.hp2 others(6): Show HG02155.hp1 NA18954.hp2 NA18969.hp2 NA18971.hp1 NA18998.hp1 NA19000.hp1 NA19003.hp2 NA19012.hp2 NA19067.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0028 a0001c0003t0003g0259 a0001c0003t0003g0263 others(6): Show a0001c0003t0003g0028 a0001c0003t0003g0259 a0001c0003t0003g0263 a0001c0003t0003g0265 a0001c0003t0003g0272 a0001c0003t0003g0273 a0001c0003t0003g0274 a0001c0003t0003g0275 a0001c0003t0003g0279	9	284	0.0317	-40	c.-11 others(59): Show c.-115-4622_-115-4583delTTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69382777	CATATATA others(33): Show CATATATATATATATATATATGACCATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02976.hp2 NA19070.hp1 HG02559.hp1 HG02976.hp2 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0005 a0002c0002t0002g0147 a0002c0002t0002g0191 a0001c0001t0003g0005 a0002c0002t0002g0147 a0002c0002t0002g0191	3	284	0.0106	-40	c.180 others(57): Show c.180-1879_180-1840delGACCATATATATATATATATATATATAT ATATATATATAT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD3_chr10_34104561_34820296	34352970	TGTGAGGA others(33): Show TGTGAGGAGTGTCTCTGCCGGACCGCCACCCCGTCTGGGAG	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0087 a0001c0003t0003g0087	1	100	0.0100	-40	c.206 others(59): Show c.2068-4895_2068-4856delCTCCCAGACGGGGTGGCGGTCCGGCA GAGACACTCCTCAC	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	14/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34684796	CACACACA others(33): Show CACACACACACACACACACACACACACACACACACATATAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0028 a0001c0004t0002g0028	1	100	0.0100	-40	c.222 others(59): Show c.222+11482_222+11521delATATATGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD6G_chr18_80152232_80252514	80167207	GTGGGCAG others(33): Show GTGGGCAGTGTTGTGTGTGGACCTGTGTGCCGGATAACACA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0247 a0001c0001t0005g0247	1	382	0.0026	-40	c.296 others(57): Show c.296-6641_296-6602delTGTGTTATCCGGCACACAGGTCCACACA CAACACTGCCCA	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARP10_chr8_143972158_143991460	143981058	AAAATTCA others(33): Show AAAATTCAAGCATACCATTTAAAGTCATCAAGGTGCTCACT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0053 a0003c0003t0001g0053	1	380	0.0026	-40	c.255 others(59): Show c.2556+1834_2556+1873delAGTGAGCACCTTGATGACTTTAAATG GTATGCTTGAATTT	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP9_chr3_122522924_122569300	122539507	ATTTCTTT others(33): Show ATTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0041 a0001c0003t0001g0041	1	436	0.0023	-40	c.176 others(57): Show c.1765+925_1765+964delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA	PARP9	ENSG00000138496.17	transcript	ENST00000682323.1	protein_coding	8/10			chr3	TogoVar
PASD1_chrX_151558675_151681739	151653868	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03486.hp1 HG02572.hp1 HG03486.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0025 a0001c0002 a0004c0025	a0001c0002t0002 a0004c0025t0002 a0001c0002t0002 a0004c0025t0002	a0001c0002t0002g0169 a0004c0025t0002g0192 a0001c0002t0002g0169 a0004c0025t0002g0192	2	221	0.0091	-40	c.717 others(57): Show c.717+5200_717+5239delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PAWR_chr12_79579879_79695964	79613951	ATATATAT others(33): Show ATATATATATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0169 a0002c0002t0001g0169	1	256	0.0039	-40	c.649 others(55): Show c.649-382_649-343delAAAAAAAAAAAATATATATATATATATATA TATATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79613955	ATATATAT others(33): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp2 HG02895.hp1 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0001 a0002c0002t0005	a0002c0002t0001g0242 a0002c0002t0005g0214 a0002c0002t0001g0242 a0002c0002t0005g0214	2	256	0.0078	-40	c.649 others(55): Show c.649-386_649-347delAAAAAAAAAAAAAAAATATATATATATATA TATATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79613957	ATATATAT others(33): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp1 HG01109.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0246 a0002c0002t0005g0248 a0002c0002t0005g0246 a0002c0002t0005g0248	2	256	0.0078	-40	c.649 others(55): Show c.649-388_649-349delAAAAAAAAAAAAAAAAAATATATATATATA TATATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79613959	ATATATAT others(33): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0217 a0002c0002t0001g0222 a0002c0002t0001g0217 a0002c0002t0001g0222	2	256	0.0078	-40	c.649 others(55): Show c.649-390_649-351delAAAAAAAAAAAAAAAAAAAATATATATATA TATATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79632288	AATATATA others(33): Show AATATATACATATATATATACATACATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19240.hp2 HG02922.hp2 NA19240.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0164 a0003c0005t0007g0165 a0003c0005t0007g0164 a0003c0005t0007g0165	2	256	0.0078	-40	c.517 others(59): Show c.517-11121_517-11082delATATATATATATATATGTATGTATAT ATATATGTATATAT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar

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