Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PABPC1L2B_chrX_72997939_73011106	73002749	GGCAGCCC others(17): Show GGCAGCCCCGCAGCCCCGCAGCCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01109.hp1 HG01257.hp1 others(10): Show HG00735.hp1 HG01109.hp1 HG01257.hp1 HG01258.hp1 HG02004.hp1 HG02280.hp2 HG02723.hp2 HG02809.hp2 HG03195.hp2 HG03540.hp2 HG03710.hp1 NA19240.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0009g0000	13	294	0.0442	-24	c.-89 others(33): Show c.-893_-870delGCAGCCCCGCAGCCCCGCAGCCCC	PABPC1L2B	ENSG00000184388.6	transcript	ENST00000373521.4	protein_coding		189		chrX	TogoVar
PABPC4_chr1_39555816_39581790	39576910	GGCGGCCA others(17): Show GGCGGCCACGCGAGAGCGACCCGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	374	0.0027	-24	c.-98 others(33): Show c.-983_-960delGCCGGGTCGCTCTCGCGTGGCCGC	PABPC4	ENSG00000090621.15	transcript	ENST00000372858.8	protein_coding		121		chr1	TogoVar
PABPC4_chr1_39555816_39581790	39579357	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	374	0.0027	-24	c.-34 others(35): Show c.-3430_-3407delCACACACACACACACACACACACA	PABPC4	ENSG00000090621.15	transcript	ENST00000372858.8	protein_coding		2568		chr1	TogoVar
PACC1_chr1_212358928_212419886	212396796	ATATCTAT others(17): Show ATATCTATCTATCTATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02965.hp1 HG03540.hp2 others(2): Show HG02559.hp2 HG02965.hp1 HG03540.hp2 NA18969.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0002 a0001c0003t0001 a0001c0006t0017 a0001c0001t0002 a0001c0003t0001 a0001c0006t0017	a0001c0001t0002g0234 a0001c0003t0001g0275 a0001c0003t0001g0276 others(2): Show a0001c0001t0002g0234 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0277 a0001c0006t0017g0315	5	374	0.0134	-24	c.134 others(41): Show c.134-9720_134-9697delGATAGATAGATAGATAGATAGATA	PACC1	ENSG00000065600.13	transcript	ENST00000261455.9	protein_coding	2/7			chr1	TogoVar
PACRG_chr6_162722974_163320500	162747380	GTATATAT others(17): Show GTATATATATGTATATATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03195.hp2 HG06807.hp2 HG01934.hp2 HG03195.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021	3	130	0.0231	-24	c.156 others(43): Show c.156+18999_156+19022delGTATATATATATGTATATATATAT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162747450	ATAACTAT others(17): Show ATAACTATAAATATATATGTAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	130	0.0077	-24	c.156 others(43): Show c.156+19062_156+19085delACTATAAATATATATGTAAAACTA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162875297	GCACACAC others(17): Show GCACACACAGACATGCACAGACATT	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0119 a0001c0001t0003g0119	1	130	0.0077	-24	c.291 others(43): Show c.291+61035_291+61058delGACATTCACACACAGACATGCACA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162958872	TATATATA others(17): Show TATATATATATATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02896.hp1 HG02451.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0089 a0001c0001t0009g0088 a0001c0001t0001g0089 a0001c0001t0009g0088	2	130	0.0154	-24	c.292 others(45): Show c.292-103276_292-103253delTATATATATATAGAGAGAGAGAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162958882	TATAGAGA others(17): Show TATAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	130	0.0077	-24	c.292 others(45): Show c.292-103266_292-103243delTAGAGAGAGAGAGAGAGAGAGAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162958884	TAGAGAGA others(17): Show TAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	130	0.0077	-24	c.292 others(45): Show c.292-103234_292-103211delGAGAGAGAGAGAGAGAGAGAGAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163269931	CAAAGAAA others(17): Show CAAAGAAAGAAAGAAAGAAAGAAAG	C C	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	130	0.0077	-24	c.614 others(43): Show c.614-44843_614-44820delAAAGAAAGAAAGAAAGAAAGAAAG	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163319519	TATATATA others(17): Show TATATATATATATATATATACATAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03486.hp1 HG06807.hp2 HG03139.hp1 HG03486.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0044 a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0044	3	130	0.0231	-24	c.45 others(35): Show c.4533_*4556delATATATATATATATATATACATAG	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding		4020		chr6	TogoVar
PACRG_chr6_162722974_163320500	163319521	TATATATA others(17): Show TATATATATATATATATACATAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0105 a0001c0001t0003g0105	1	130	0.0077	-24	c.45 others(35): Show c.4535_*4558delATATATATATATATATACATAGAG	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding		4022		chr6	TogoVar
PACRG_chr6_162722974_163320500	163319523	TATATATA others(17): Show TATATATATATATATACATAGAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG01517.hp1 others(2): Show HG00323.hp1 HG00323.hp2 HG01517.hp1 HG01981.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014	a0001c0001t0007g0094 a0001c0001t0007g0125 a0001c0001t0008g0069 others(2): Show a0001c0001t0007g0094 a0001c0001t0007g0125 a0001c0001t0008g0069 a0001c0001t0008g0074 a0001c0001t0014g0109	5	130	0.0385	-24	c.45 others(35): Show c.4537_*4560delATATATATATATATACATAGAGAG	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding		4024		chr6	TogoVar
PACS1_chr11_66065272_66249744	66156204	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG02109.hp2 others(3): Show HG01168.hp2 HG01169.hp1 HG02109.hp2 HG02895.hp2 HG03098.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0143 a0001c0001t0001g0145 others(3): Show a0001c0001t0001g0042 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0309	6	322	0.0186	-24	c.357 others(43): Show c.357-37255_357-37232delTATATATATATATATATATATATA	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACS1_chr11_66065272_66249744	66202742	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	322	0.0031	-24	c.445 others(41): Show c.445-7603_445-7580delATATATATATATATATATATATAT	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PADI6_chr1_17367196_17406699	17376515	ATTTTTTT others(17): Show ATTTTTTTTATTTTTAGTGGGCTAT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0306 a0001c0016t0003g0306	1	412	0.0024	-24	c.367 others(41): Show c.367+1024_367+1047delTATTTTTAGTGGGCTATTTTTTTT	PADI6	ENSG00000276747.1	transcript	ENST00000619609.1	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAF1_chr19_39380629_39396106	39393072	CTTTCTTT others(17): Show CTTTCTTTTCTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00735.hp2 others(19): Show HG00099.hp1 HG00639.hp1 HG00735.hp2 HG01071.hp2 HG01074.hp2 HG01255.hp2 HG02027.hp1 HG02056.hp1 HG02257.hp2 HG02300.hp1 HG03041.hp1 HG03688.hp2 NA18522.hp1 NA18612.hp2 NA18955.hp2 NA18983.hp2 NA18999.hp2 NA19009.hp1 NA19074.hp2 NA19088.hp1 NA19090.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0010t0001 a0001c0001t0001 a0001c0001t0002 a0001c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0038 a0001c0001t0002g0008 a0001c0010t0001g0031	22	368	0.0598	-24	c.-22 others(35): Show c.-2232_-2209delAAAAAAAAAAAAAAAGAAAAGAAA	PAF1	ENSG00000006712.15	transcript	ENST00000221265.8	protein_coding		1967		chr19	TogoVar
PAFAH1B1_chr17_2588654_2690615	2650271	GGAGGCCG others(17): Show GGAGGCCGAGGCGGGTGGATCACTT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0022 a0001c0001t0018g0022	1	280	0.0036	-24	c.32+ others(41): Show c.32+11956_32+11979delCCGAGGCGGGTGGATCACTTGAGG	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
PAFAH1B1_chr17_2588654_2690615	2679458	TTGGATGG others(17): Show TTGGATGGATGGATGGATGATTGGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(259): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0002t0006 a0001c0003t0010 a0001c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(259): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0184 a0001c0001t0001g0195 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0220 a0001c0001t0002g0029 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0001t0002g0104 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0194 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0234 a0001c0001t0003g0002 a0001c0001t0003g0030 a0001c0001t0003g0102 a0001c0001t0003g0129 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0269 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0004g0192 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0203 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0252 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0005g0004 a0001c0001t0005g0043 a0001c0001t0005g0051 a0001c0001t0005g0059 a0001c0001t0005g0082 a0001c0001t0005g0084 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0005g0092 a0001c0001t0005g0098 a0001c0001t0005g0099 a0001c0001t0005g0100 a0001c0001t0005g0101 a0001c0001t0005g0117 a0001c0001t0005g0131 a0001c0001t0005g0152 a0001c0001t0005g0167 a0001c0001t0005g0168 a0001c0001t0005g0211 a0001c0001t0007g0196 a0001c0001t0007g0213 a0001c0001t0007g0214 a0001c0001t0007g0215 a0001c0001t0007g0271 a0001c0001t0007g0273 a0001c0001t0007g0274 a0001c0001t0008g0137 a0001c0001t0008g0138 a0001c0001t0008g0140 a0001c0001t0008g0141 a0001c0001t0008g0142 a0001c0001t0008g0143 a0001c0001t0008g0144 a0001c0001t0009g0058 a0001c0001t0009g0062 a0001c0001t0009g0083 a0001c0001t0009g0085 a0001c0001t0009g0088 a0001c0001t0009g0107 a0001c0001t0010g0181 a0001c0001t0011g0233 a0001c0001t0011g0239 a0001c0001t0011g0240 a0001c0001t0011g0241 a0001c0001t0011g0242 a0001c0001t0011g0270 a0001c0001t0014g0048 a0001c0001t0014g0049 a0001c0001t0015g0017 a0001c0001t0016g0001 a0001c0001t0018g0022 a0001c0001t0019g0268 a0001c0001t0020g0226 a0001c0001t0021g0180 a0001c0001t0022g0183 a0001c0001t0023g0135 a0001c0001t0024g0193 a0001c0001t0025g0032 a0001c0001t0026g0093 a0001c0001t0027g0159 a0001c0001t0029g0182 a0001c0001t0030g0106 a0001c0001t0031g0091 a0001c0001t0032g0197 a0001c0001t0033g0026 a0001c0001t0034g0251 a0001c0001t0035g0204 a0001c0001t0037g0272 a0001c0001t0038g0238 a0001c0001t0039g0146 a0001c0001t0040g0074 a0001c0001t0041g0139 a0001c0002t0006g0185 a0001c0002t0006g0186 a0001c0002t0006g0187 a0001c0002t0006g0188 a0001c0002t0006g0189 a0001c0002t0006g0190 a0001c0002t0006g0191 a0001c0003t0010g0175 a0001c0003t0010g0176 a0001c0003t0010g0177 a0001c0003t0010g0178 a0001c0003t0010g0179 a0001c0005t0001g0094	262	280	0.9357	-24	c.100 others(41): Show c.1003-639_1003-616delATTGGATGGATGGATGGATGGATG	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172384	ATATATAT others(17): Show ATATATATATATATATATATATTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0187 a0001c0001t0053g0187	1	432	0.0023	-24	c.46 others(35): Show c.4686_*4709delTATATATATATATATATATATTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1340		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172386	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	432	0.0023	-24	c.46 others(35): Show c.4688_*4711delTATATATATATATATATATTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1342		chr11	TogoVar
PAGE1_chrX_49682447_49700984	49689569	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03471.hp1 HG02109.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0058 a0001c0001t0001g0059	2	322	0.0062	-24	c.293 others(37): Show c.293-50_293-27delATATATATATATATATATTTTTTT	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE1_chrX_49682447_49700984	49689573	AAAATATA others(17): Show AAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp2 HG00280.hp1 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0248 a0001c0001t0001g0229 a0001c0001t0001g0248	2	322	0.0062	-24	c.293 others(37): Show c.293-54_293-31delATATATATATATATATATATATTT	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAH_chr12_102831889_102922244	102871931	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18985.hp2 HG03654.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0011 a0001c0001t0001 a0001c0002t0011	a0001c0001t0001g0047 a0001c0002t0011g0089 a0001c0001t0001g0047 a0001c0002t0011g0089	2	312	0.0064	-24	c.442 others(41): Show c.442-5292_442-5269delATATATTTTTTTTTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102871933	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	312	0.0032	-24	c.442 others(41): Show c.442-5294_442-5271delATATATATTTTTTTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102871935	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp2 HG02148.hp1 others(7): Show HG01069.hp1 HG01243.hp2 HG02148.hp1 HG02572.hp1 HG02886.hp1 HG03942.hp2 HG06807.hp1 NA18948.hp1 NA18960.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0001c0001t0001 a0001c0001t0002 a0001c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0001t0001g0041 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0096 a0001c0001t0001g0137 a0001c0001t0002g0130 a0001c0008t0001g0133	10	312	0.0321	-24	c.442 others(41): Show c.442-5296_442-5273delATATATATATTTTTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102871937	AAAAAAAA others(17): Show AAAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG01074.hp2 others(26): Show HG00099.hp2 HG00558.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG02055.hp2 HG02109.hp2 HG02559.hp1 HG02622.hp2 HG02683.hp1 HG02738.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03195.hp2 HG03831.hp1 HG03834.hp2 NA18966.hp2 NA18993.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0011 a0001c0004t0026 a0001c0007t0002 a0001c0007t0017	a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(26): Show a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0068 a0001c0001t0001g0086 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0139 a0001c0001t0001g0162 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0131 a0001c0001t0002g0197 a0001c0001t0002g0212 a0001c0001t0003g0255 a0001c0001t0003g0271 a0001c0002t0011g0030 a0001c0004t0026g0304 a0001c0007t0002g0040 a0001c0007t0017g0043	29	312	0.0930	-24	c.442 others(41): Show c.442-5298_442-5275delATATATATATATTTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102871939	AAAAAAAA others(17): Show AAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00741.hp2 others(4): Show HG00323.hp2 HG00639.hp1 HG00741.hp2 HG01192.hp1 HG02698.hp2 HG03195.hp1 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0012t0002	a0001c0001t0001g0070 a0001c0001t0002g0188 a0001c0001t0002g0216 others(4): Show a0001c0001t0001g0070 a0001c0001t0002g0188 a0001c0001t0002g0216 a0001c0001t0009g0298 a0001c0001t0009g0305 a0001c0001t0009g0306 a0001c0012t0002g0214	7	312	0.0224	-24	c.442 others(41): Show c.442-5300_442-5277delATATATATATATATTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAICS_chr4_56431260_56469578	56437256	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0166 a0001c0001t0063g0166	1	380	0.0026	-24	c.16+ others(37): Show c.16+947_16+970delGTGTGTGTGTGTGTGTGTGTGTGT	PAICS	ENSG00000128050.9	transcript	ENST00000512576.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
PAIP2_chr5_139336854_139374717	139365141	TTAAATAA others(17): Show TTAAATAAATAAATAAATAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19240.hp2 HG01884.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0048 a0001c0001t0001g0049	2	344	0.0058	-24	c.318 others(39): Show c.318+417_318+440delAATAAATAAATAAATAAATAAATA	PAIP2	ENSG00000120727.13	transcript	ENST00000265192.9	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAK2_chr3_196734857_196837647	196759489	GTTTTTTT others(17): Show GTTTTTTTTGTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0146 a0003c0005t0001g0146	1	178	0.0056	-24	c.-22 others(43): Show c.-22+19341_-22+19364delGTTTTTTTTTTTTTTTTTTTTTTT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196766931	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02451.hp2 HG02895.hp2 others(3): Show HG00099.hp1 HG02451.hp2 HG02895.hp2 HG02976.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0034 a0001c0001t0038 others(2): Show a0001c0001t0001 a0001c0001t0034 a0001c0001t0038 a0001c0001t0053 a0001c0002t0001	a0001c0001t0001g0052 a0001c0001t0034g0009 a0001c0001t0038g0060 others(3): Show a0001c0001t0001g0052 a0001c0001t0034g0009 a0001c0001t0038g0060 a0001c0001t0053g0006 a0001c0002t0001g0003 a0001c0002t0001g0004	6	178	0.0337	-24	c.-21 others(43): Show c.-21-15674_-21-15651delGTGTGTGTGTGTGTGTGTGTGTGT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK5_chr20_9532370_9844076	9766366	TATATTCA others(17): Show TATATTCAAGCAGAATATATATGTA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01175.hp1 HG01099.hp2 HG01175.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0004 a0002c0001t0001 a0001c0004t0004 a0002c0001t0001	a0001c0004t0004g0174 a0002c0001t0001g0056 a0001c0004t0004g0174 a0002c0001t0001g0056	2	208	0.0096	-24	c.-16 others(45): Show c.-161-54955_-161-54932delTACATATATATTCTGCTTGAATAT	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PALB2_chr16_23598165_23646310	23611078	GTCTATCT others(17): Show GTCTATCTATCTATCTATCTATCTA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG06807.hp1 NA20129.hp2 HG03195.hp2 HG06807.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0285 a0002c0002t0001g0287 a0002c0002t0001g0294 a0002c0002t0001g0285 a0002c0002t0001g0287 a0002c0002t0001g0294	3	326	0.0092	-24	c.320 others(43): Show c.3201+2902_3201+2925delTAGATAGATAGATAGATAGATAGA	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding	11/12			chr16	TogoVar
PALB2_chr16_23598165_23646310	23645083	CTATATAT others(17): Show CTATATATATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0042 a0003c0003t0002g0042	1	326	0.0031	-24	c.-39 others(35): Show c.-3950_-3927delTATATATATATATATATATATATA	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		3774		chr16	TogoVar
PALLD_chr4_168492052_168933441	168499249	AGGGAGGG others(17): Show AGGGAGGGAGGAAGGGAGGGAGGAT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03654.hp1 HG04204.hp1 HG01952.hp2 HG03654.hp1 HG04204.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0017 a0003c0005 a0001c0001 a0002c0017 a0003c0005	a0001c0001t0001 a0002c0017t0003 a0003c0005t0001 a0001c0001t0001 a0002c0017t0003 a0003c0005t0001	a0001c0001t0001g0077 a0002c0017t0003g0084 a0003c0005t0001g0076 a0001c0001t0001g0077 a0002c0017t0003g0084 a0003c0005t0001g0076	3	156	0.0192	-24	c.-83 others(41): Show c.-83+2067_-83+2090delAGGGAGGGAGGATGGGAGGGAGGA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168499261	AGGGAGGG others(17): Show AGGGAGGGAGGATGGGAGGGAGGAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00735.hp2 HG01071.hp1 others(19): Show HG00597.hp2 HG00735.hp2 HG01071.hp1 HG01123.hp2 HG01346.hp2 HG02004.hp1 HG02004.hp2 HG02257.hp2 HG02897.hp2 HG03130.hp2 HG03139.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03579.hp1 HG04115.hp1 NA19005.hp1 NA19005.hp2 NA19077.hp1 NA19077.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0019 a0002c0003 a0002c0012 a0002c0018 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0022 a0001c0002t0006 a0001c0004t0002 a0001c0004t0005 a0001c0019t0006 a0002c0003t0003 a0002c0003t0005 a0002c0003t0006 a0002c0012t0001 a0002c0018t0007 a0004c0011t0001 a0004c0011t0013	a0001c0001t0001g0055 a0001c0001t0001g0086 a0001c0001t0002g0110 others(19): Show a0001c0001t0001g0055 a0001c0001t0001g0086 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0117 a0001c0001t0004g0081 a0001c0001t0004g0087 a0001c0001t0005g0119 a0001c0001t0006g0095 a0001c0001t0022g0114 a0001c0002t0006g0115 a0001c0004t0002g0120 a0001c0004t0005g0116 a0001c0019t0006g0118 a0002c0003t0003g0088 a0002c0003t0005g0109 a0002c0003t0006g0113 a0002c0012t0001g0085 a0002c0018t0007g0012 a0004c0011t0001g0083 a0004c0011t0013g0004	22	156	0.1410	-24	c.-83 others(41): Show c.-83+2091_-83+2114delTGGGAGGGAGGATGGGAGGGAGGA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168542717	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp2 HG02486.hp2 others(1): Show HG02055.hp2 HG02451.hp2 HG02486.hp2 HG02897.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0002t0007 a0001c0004t0015 others(1): Show a0001c0001t0001 a0001c0002t0007 a0001c0004t0015 a0002c0003t0003	a0001c0001t0001g0003 a0001c0002t0007g0010 a0001c0004t0015g0011 others(1): Show a0001c0001t0001g0003 a0001c0002t0007g0010 a0001c0004t0015g0011 a0002c0003t0003g0088	4	156	0.0256	-24	c.908 others(43): Show c.908+30328_908+30351delATATATATATATATATATATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168600021	GTACACAC others(17): Show GTACACACACATACATACATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0006 a0001c0001t0008g0006	1	156	0.0064	-24	c.909 others(43): Show c.909-68160_909-68137delCATACATACATGTGTATACACACA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168759202	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG00735.hp2 others(26): Show HG00280.hp2 HG00642.hp1 HG00735.hp2 HG01071.hp1 HG01099.hp2 HG01167.hp1 HG01175.hp2 HG01884.hp2 HG01952.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02258.hp2 HG02683.hp2 HG02698.hp2 HG02896.hp2 HG02976.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp2 HG03490.hp1 HG03654.hp1 HG03669.hp1 HG06807.hp1 NA18906.hp1 NA18964.hp2 NA19005.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0022 others(9): Show a0001c0001 a0001c0002 a0001c0022 a0002c0007 a0002c0010 a0002c0015 a0002c0017 a0002c0018 a0004c0011 a0004c0014 a0004c0024 a0005c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0022 a0001c0002t0003 a0001c0002t0006 a0001c0002t0010 a0001c0022t0003 a0002c0007t0001 a0002c0007t0004 a0002c0007t0005 a0002c0010t0006 a0002c0015t0003 a0002c0015t0016 a0002c0017t0003 a0002c0018t0007 a0004c0011t0001 a0004c0014t0001 a0004c0024t0003 a0005c0026t0004	a0001c0001t0001g0003 a0001c0001t0001g0055 a0001c0001t0001g0073 others(26): Show a0001c0001t0001g0003 a0001c0001t0001g0055 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0002g0089 a0001c0001t0002g0111 a0001c0001t0002g0146 a0001c0001t0003g0156 a0001c0001t0008g0006 a0001c0001t0008g0061 a0001c0001t0022g0114 a0001c0002t0003g0075 a0001c0002t0006g0090 a0001c0002t0006g0115 a0001c0002t0010g0092 a0001c0022t0003g0054 a0002c0007t0001g0025 a0002c0007t0004g0027 a0002c0007t0005g0138 a0002c0010t0006g0100 a0002c0015t0003g0058 a0002c0015t0016g0035 a0002c0017t0003g0084 a0002c0018t0007g0012 a0004c0011t0001g0083 a0004c0014t0001g0029 a0004c0024t0003g0014 a0005c0026t0004g0015	29	156	0.1859	-24	c.196 others(45): Show c.1964+47299_1964+47322delTATATATATATATATATATATATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168793121	GTGTGTGC others(17): Show GTGTGTGCATATATATACATATATA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0113 a0002c0003t0006g0113	1	156	0.0064	-24	c.196 others(45): Show c.1964+81414_1964+81437delATGTGTGCATATATATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168816817	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19074.hp2 NA19010.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0136 a0001c0004t0002g0131 a0001c0001t0002g0136 a0001c0004t0002g0131	2	156	0.0128	-24	c.196 others(45): Show c.1965-74072_1965-74049delGTGTGTGTGTGTGTGTGTGTGTGT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALMD_chr1_99641113_99699535	99652716	AAAAGAAA others(17): Show AAAAGAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19004.hp1 HG02886.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0196 a0001c0001t0001g0010 a0001c0001t0001g0196	2	380	0.0053	-24	c.45+ others(39): Show c.45+6363_45+6386delGAAAAGAAAAGAAAAGAAAGAAAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALMD_chr1_99641113_99699535	99683003	CTCCAAAA others(17): Show CTCCAAAAAGAAAGAAGGAAAGAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG03098.hp2 HG01884.hp2 HG02486.hp1 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0300 a0001c0002t0001g0313 a0001c0002t0001g0362 a0001c0002t0001g0300 a0001c0002t0001g0313 a0001c0002t0001g0362	3	380	0.0079	-24	c.252 others(41): Show c.252-3672_252-3649delTCCAAAAAGAAAGAAGGAAAGAAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7			chr1	TogoVar
PALS2_chr7_24568452_24699193	24573297	TGGAGGAG others(17): Show TGGAGGAGGAGGAGGAGGAGGAGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0135 a0001c0001t0135	a0001c0001t0135g0005 a0001c0001t0135g0005	1	378	0.0027	-24	c.-29 others(33): Show c.-298_-275delGGAGGAGGAGGAGGAGGAGGAGGA	PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding		154		chr7	TogoVar
PAM_chr5_102750305_103034716	102758068	ATTTTGTT others(17): Show ATTTTGTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp1 HG02886.hp2 others(4): Show HG02572.hp2 HG02809.hp1 HG02886.hp2 HG03041.hp1 HG03139.hp1 HG03579.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0028 others(4): Show a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0002t0002g0027	7	188	0.0372	-24	c.-37 others(43): Show c.-374+2725_-374+2748delGTTTTTTTTTTTTTTTTTTTTTTT	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102780749	CTTTCTCT others(17): Show CTTTCTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	188	0.0053	-24	c.-37 others(45): Show c.-374+25403_-374+25426delTTCTCTTTCTTTCTTTCTTTCTTT	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102780753	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02602.hp1 NA18950.hp2 HG01934.hp1 HG02602.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0085 a0001c0001t0001g0162 a0001c0002t0004g0160 a0001c0001t0001g0085 a0001c0001t0001g0162 a0001c0002t0004g0160	3	188	0.0160	-24	c.-37 others(45): Show c.-374+25465_-374+25488delTTCTTTCTTTCTTTCTTTCTTTCT	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102803146	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA21309.hp2 HG03540.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0112 a0001c0001t0002g0113	2	188	0.0106	-24	c.-37 others(45): Show c.-374+47837_-374+47860delGGAAGGAAGGAAGGAAGGAAGGAA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar

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