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
PARP9_chr3_122522924_122569300	122539507	ATTTCTTT others(21): Show ATTTCTTTCTTTCTTTCTTTCTTTCTTTC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp1 HG02055.hp1 others(14): Show HG00642.hp2 HG01109.hp1 HG02055.hp1 HG02145.hp2 HG02258.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02922.hp1 HG03486.hp1 HG03516.hp1 HG06807.hp2 NA18961.hp1 NA18962.hp2 NA19054.hp1 NA19079.hp2 NA20300.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0001c0003 a0003c0004 others(1): Show a0001c0002 a0001c0003 a0003c0004 a0005c0006	a0001c0002t0001 a0001c0003t0002 a0001c0003t0003 others(2): Show a0001c0002t0001 a0001c0003t0002 a0001c0003t0003 a0003c0004t0001 a0005c0006t0003	a0001c0002t0001g0088 a0001c0002t0001g0145 a0001c0003t0002g0359 others(12): Show a0001c0002t0001g0088 a0001c0002t0001g0145 a0001c0003t0002g0359 a0001c0003t0003g0007 a0001c0003t0003g0032 a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0003t0003g0035 a0001c0003t0003g0036 a0003c0004t0001g0066 a0003c0004t0001g0067 a0003c0004t0001g0069 a0003c0004t0001g0075 a0005c0006t0003g0008 a0005c0006t0003g0037	17	436	0.0390	-28	c.176 others(45): Show c.1765+937_1765+964delGAAAGAAAGAAAGAAAGAAAGAAAGAAA	PARP9	ENSG00000138496.17	transcript	ENST00000682323.1	protein_coding	8/10			chr3	TogoVar
PARVA_chr11_12372571_12540356	12484504	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp2 NA18991.hp1 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0082 a0001c0002t0037 a0001c0002t0082	a0001c0002t0037g0191 a0001c0002t0082g0116 a0001c0002t0037g0191 a0001c0002t0082g0116	2	286	0.0070	-28	c.400 others(45): Show c.400+6573_400+6600delTGTGTGTGTGTGTGTGTGTGTGTGTGTG	PARVA	ENSG00000197702.14	transcript	ENST00000334956.15	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PARVB_chr22_44019302_44177939	44122534	GAGAGAGA others(21): Show GAGAGAGAGAGAGAGAGAGACACAGAGAC	G G	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	332	0.0030	-28	c.376 others(45): Show c.376+3414_376+3441delCACAGAGACAGAGAGAGAGAGAGAGAGA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PASD1_chrX_151558675_151681739	151567045	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02572.hp1 others(10): Show HG02055.hp1 HG02109.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 NA18906.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0023 a0004c0025 a0005c0010	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(5): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0006t0004 a0002c0023t0002 a0004c0025t0002 a0005c0010t0002	a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0002t0002g0195 others(10): Show a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0002t0002g0195 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0003g0203 a0001c0003t0002g0201 a0001c0006t0004g0193 a0001c0006t0004g0196 a0002c0023t0002g0194 a0004c0025t0002g0192 a0005c0010t0002g0200	13	221	0.0588	-28	c.-28 others(45): Show c.-28+3230_-28+3257delTAAATAAATAAATAAATAAATAAATAAA	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASD1_chrX_151558675_151681739	151653747	CTTCCTTC others(21): Show CTTCCTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01099.hp1 HG01106.hp1 others(12): Show HG00733.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01256.hp1 HG01496.hp2 HG01993.hp2 HG02145.hp1 HG02280.hp1 HG02559.hp2 HG02723.hp1 HG02970.hp1 HG02976.hp1 HG03654.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0006 others(6): Show a0001c0002 a0001c0003 a0001c0006 a0002c0004 a0002c0007 a0002c0008 a0002c0009 a0002c0015 a0002c0023	a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 others(8): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0003t0003 a0001c0006t0008 a0002c0004t0003 a0002c0007t0001 a0002c0008t0002 a0002c0009t0003 a0002c0015t0001 a0002c0023t0002	a0001c0002t0002g0034 a0001c0002t0003g0150 a0001c0002t0005g0043 others(12): Show a0001c0002t0002g0034 a0001c0002t0003g0150 a0001c0002t0005g0043 a0001c0003t0003g0136 a0001c0006t0008g0211 a0002c0004t0003g0010 a0002c0004t0003g0020 a0002c0004t0003g0092 a0002c0004t0003g0102 a0002c0007t0001g0085 a0002c0008t0002g0025 a0002c0008t0002g0050 a0002c0009t0003g0006 a0002c0015t0001g0072 a0002c0023t0002g0194	15	221	0.0679	-28	c.717 others(45): Show c.717+5049_717+5076delCTTCTTTCTTTCTTTCTTTCTTTCTTTC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASD1_chrX_151558675_151681739	151653868	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0163 a0001c0002t0002g0163	1	221	0.0045	-28	c.717 others(45): Show c.717+5212_717+5239delCTTTCTTTCTTTCTTTCTTTCTTTCTTT	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PATJ_chr1_61737480_62168915	61813358	TATATATA others(21): Show TATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01978.hp1 HG02145.hp2 others(3): Show HG01891.hp1 HG01978.hp1 HG02145.hp2 HG02280.hp2 HG02451.hp1 HG03130.hp2	a0002 a0005 a0010 others(2): Show a0002 a0005 a0010 a0013 a0015	a0002c0020 a0002c0030 a0005c0013 others(3): Show a0002c0020 a0002c0030 a0005c0013 a0010c0005 a0013c0004 a0015c0039	a0002c0020t0025 a0002c0030t0005 a0005c0013t0015 others(3): Show a0002c0020t0025 a0002c0030t0005 a0005c0013t0015 a0010c0005t0018 a0013c0004t0001 a0015c0039t0002	a0002c0020t0025g0112 a0002c0030t0005g0121 a0005c0013t0015g0156 others(3): Show a0002c0020t0025g0112 a0002c0030t0005g0121 a0005c0013t0015g0156 a0010c0005t0018g0107 a0013c0004t0001g0028 a0015c0039t0002g0109	6	158	0.0380	-28	c.168 others(47): Show c.1683+4830_1683+4857delTATATATATATATATATATACACACA CA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	14/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61965121	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01070.hp2 others(10): Show HG00639.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01257.hp1 HG02258.hp1 HG02735.hp1 HG02922.hp1 HG03654.hp2 HG03834.hp2 HG04115.hp2 NA18993.hp1	a0008 a0009 a0014 others(3): Show a0008 a0009 a0014 a0030 a0033 a0052	a0008c0016 a0008c0069 a0009c0052 others(7): Show a0008c0016 a0008c0069 a0009c0052 a0009c0096 a0009c0097 a0009c0098 a0014c0002 a0030c0075 a0033c0132 a0052c0111	a0008c0016t0003 a0008c0069t0003 a0009c0052t0003 others(7): Show a0008c0016t0003 a0008c0069t0003 a0009c0052t0003 a0009c0096t0003 a0009c0097t0034 a0009c0098t0004 a0014c0002t0003 a0030c0075t0003 a0033c0132t0003 a0052c0111t0021	a0008c0016t0003g0005 a0008c0016t0003g0153 a0008c0069t0003g0077 others(10): Show a0008c0016t0003g0005 a0008c0016t0003g0153 a0008c0069t0003g0077 a0009c0052t0003g0088 a0009c0096t0003g0010 a0009c0097t0034g0052 a0009c0098t0004g0011 a0014c0002t0003g0084 a0014c0002t0003g0090 a0014c0002t0003g0091 a0030c0075t0003g0089 a0033c0132t0003g0027 a0052c0111t0021g0073	13	158	0.0823	-28	c.367 others(49): Show c.3671-25034_3671-25007delAAAAAAAAAAAAAAAAAAAAAAAA AAAA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	27/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAWR_chr12_79579879_79695964	79632288	AATATATA others(21): Show AATATATACATATATATATACATACATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0168 a0003c0004t0007g0168	1	256	0.0039	-28	c.517 others(47): Show c.517-11109_517-11082delATATGTATGTATATATATATGTATAT AT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79632296	CATATATA others(21): Show CATATATATATACATACATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03041.hp1 HG02572.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0038 a0001c0001t0003g0039	2	256	0.0078	-28	c.517 others(47): Show c.517-11117_517-11090delATATATATATATGTATGTATATATAT AT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79639863	TATTCCTA others(21): Show TATTCCTATTCCTATTCCTATTCCATTCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp2 HG03225.hp1 others(3): Show HG02258.hp1 HG02922.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 NA19240.hp2	a0003 a0004 a0003 a0004	a0003c0005 a0004c0006 a0003c0005 a0004c0006	a0003c0005t0007 a0004c0006t0011 a0003c0005t0007 a0004c0006t0011	a0003c0005t0007g0003 a0003c0005t0007g0164 a0003c0005t0007g0165 others(3): Show a0003c0005t0007g0003 a0003c0005t0007g0164 a0003c0005t0007g0165 a0004c0006t0011g0239 a0004c0006t0011g0240 a0004c0006t0011g0241	6	256	0.0234	-28	c.517 others(47): Show c.517-18684_517-18657delGGAATGGAATAGGAATAGGAATAGGA AT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAX3_chr2_222194887_222303998	222209696	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	328	0.0031	-28	c.117 others(47): Show c.1174-7534_1174-7507delTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	7/8			chr2	TogoVar
PAX5_chr9_36828269_37039268	36870035	AATGGATG others(21): Show AATGGATGGATGGATGGATGGATAAATGG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02970.hp2 NA20129.hp1 HG02257.hp1 HG02970.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0016 a0001c0002t0012 a0001c0002t0016	a0001c0002t0012g0236 a0001c0002t0016g0098 a0001c0002t0016g0220 a0001c0002t0012g0236 a0001c0002t0016g0098 a0001c0002t0016g0220	3	274	0.0110	-28	c.101 others(49): Show c.1012+11941_1012+11968delCCATTTATCCATCCATCCATCCAT CCAT	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	8/9			chr9	TogoVar
PAX5_chr9_36828269_37039268	36929235	GAGGAAGG others(21): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0249 a0001c0002t0017g0249	1	274	0.0037	-28	c.781 others(45): Show c.781-5779_781-5752delTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	6/9			chr9	TogoVar
PAX6_chr11_31784026_31816322	31794420	CCACACAC others(21): Show CCACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	376	0.0027	-28	c.724 others(43): Show c.724+182_724+209delTGTGTGTGTGTGTGTGTGTGTGTGTGTG	PAX6	ENSG00000007372.25	transcript	ENST00000640368.2	protein_coding	9/13			chr11	TogoVar
PAXX_chr9_136987422_136998976	136992100	CCTCTGGA others(21): Show CCTCTGGATCCCTGACCCAGGACGCCCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02300.hp2 HG02559.hp1 others(7): Show HG00639.hp1 HG02300.hp2 HG02559.hp1 HG02683.hp1 HG02809.hp1 HG03688.hp1 NA18954.hp2 NA18979.hp2 NA18990.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	10	384	0.0260	-28	c.-34 others(37): Show c.-343_-316delCTCTGGATCCCTGACCCAGGACGCCCTG	PAXX	ENSG00000148362.11	transcript	ENST00000371620.4	protein_coding		321		chr9	TogoVar
PBRM1_chr3_52540367_52690913	52596436	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	300	0.0033	-28	c.282 others(47): Show c.2824+7057_2824+7084delTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	19/31			chr3	TogoVar
PBX3_chr9_125742373_125972377	125781537	GGAGAGGG others(21): Show GGAGAGGGGAGAGGGGAGAGGGGAGAGGC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	294	0.0034	-28	c.274 others(47): Show c.274+32935_274+32962delGGAGAGGCGAGAGGGGAGAGGGGAGA GG	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX3_chr9_125742373_125972377	125943352	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19090.hp1 HG02451.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0131 a0001c0001t0008g0035 a0001c0001t0001g0131 a0001c0001t0008g0035	2	294	0.0068	-28	c.843 others(45): Show c.843+7765_843+7792delAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCBP3_chr21_45638725_45947450	45669803	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA18940.hp1 HG00280.hp2 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0288 a0001c0001t0001g0289	2	292	0.0069	-28	c.-20 others(45): Show c.-200+853_-200+880delGTATATATATATATATATATATATATAT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCCA_chr13_100084093_100535435	100298652	CTCCCTCC others(21): Show CTCCCTCCCTCCCTCCCTCCCTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01928.hp1 HG04184.hp1 HG00738.hp2 HG01928.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0135 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0001t0001g0135 a0001c0002t0001g0107 a0001c0002t0001g0108	3	174	0.0172	-28	c.106 others(47): Show c.1066-2804_1066-2777delCTCCCTCCCTCCCTCCCTCCTTCCTT CC	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100298656	CTCCCTCC others(21): Show CTCCCTCCCTCCCTCCCTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02895.hp1 HG03139.hp2 others(4): Show HG01081.hp1 HG02895.hp1 HG03139.hp2 HG03195.hp1 HG04204.hp1 NA18522.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0054 a0001c0001t0001g0079 a0001c0001t0001g0137 others(4): Show a0001c0001t0001g0054 a0001c0001t0001g0079 a0001c0001t0001g0137 a0001c0001t0003g0055 a0001c0001t0003g0062 a0001c0001t0003g0074 a0001c0001t0003g0075	7	174	0.0402	-28	c.106 others(47): Show c.1066-2800_1066-2773delCTCCCTCCCTCCCTCCTTCCTTCCTT CC	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100298660	CTCCCTCC others(21): Show CTCCCTCCCTCCCTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00738.hp1 HG01074.hp1 others(20): Show HG00597.hp1 HG00738.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01358.hp2 HG01993.hp2 HG02132.hp2 HG02148.hp2 HG02615.hp2 HG03490.hp1 HG03688.hp2 HG03710.hp1 HG04199.hp1 NA18947.hp2 NA18959.hp1 NA18968.hp2 NA18969.hp1 NA18984.hp2 NA19030.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0004 a0001c0001 a0001c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0004c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0040 others(20): Show a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0077 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0132 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0002g0174 a0001c0002t0001g0093 a0004c0004t0001g0126	23	174	0.1322	-28	c.106 others(47): Show c.1066-2796_1066-2769delCTCCCTCCCTCCTTCCTTCCTTCCTT CC	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100298716	TTCCTTCC others(21): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCG	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	174	0.0058	-28	c.106 others(47): Show c.1066-2732_1066-2705delTTCCTTCCTTCCTTCCGTCCTTCCTT CC	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100440156	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03942.hp1 HG02145.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0140 a0001c0001t0001g0116 a0001c0001t0001g0140	2	174	0.0115	-28	c.184 others(47): Show c.1846-9069_1846-9042delTATATATATATATATATATATATATA TA	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100458419	GCGCGCAC others(21): Show GCGCGCACACACACACACACATACACACA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03041.hp1 HG02735.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0111 a0001c0001t0001g0071 a0001c0001t0001g0111	2	174	0.0115	-28	c.189 others(47): Show c.1899+9116_1899+9143delGCGCACACACACACACACATACACAC AC	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCDH11X_chrX_91774375_92628230	92148057	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	154	0.0065	-28	c.303 others(49): Show c.3034-53269_3034-53242delCTTTCTTTCTTTCTTTCTTTCTTT CTTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11Y_chrY_4995296_5747224	5168542	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03579.hp1 HG03710.hp1 HG01099.hp1 HG03579.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0096 a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0096	3	115	0.0261	-28	c.285 others(49): Show c.2853+67862_2853+67889delATATATATATATATATATATATAT ATAT	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5603855	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	115	0.0087	-28	c.307 others(49): Show c.3076+22101_3076+22128delGAAAGAAAGAAAGAAAGAAAGAAA GAAA	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	5/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH15_chr10_53797771_54806231	53918713	AACACACA others(21): Show AACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0015 a0015	a0015c0013 a0015c0013	a0015c0013t0003 a0015c0013t0003	a0015c0013t0003g0035 a0015c0013t0003g0035	1	102	0.0098	-28	c.337 others(49): Show c.3374-15371_3374-15344delGTGTGTGTGTGTGTGTGTGTGTGT GTGT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	25/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54242128	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03098.hp1 HG03139.hp2 HG02109.hp1 HG03098.hp1 HG03139.hp2	a0002 a0007 a0037 a0002 a0007 a0037	a0002c0002 a0007c0007 a0037c0018 a0002c0002 a0007c0007 a0037c0018	a0002c0002t0009 a0007c0007t0003 a0037c0018t0001 a0002c0002t0009 a0007c0007t0003 a0037c0018t0001	a0002c0002t0009g0027 a0007c0007t0003g0065 a0037c0018t0001g0004 a0002c0002t0009g0027 a0007c0007t0003g0065 a0037c0018t0001g0004	3	102	0.0294	-28	c.877 others(45): Show c.877-5225_877-5198delTATATATATATATATATATATATATAAA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54242130	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0012 a0014c0014t0001g0012	1	102	0.0098	-28	c.877 others(45): Show c.877-5227_877-5200delTATATATATATATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54442414	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0012 a0010c0009t0012	a0010c0009t0012g0042 a0010c0009t0012g0042	1	102	0.0098	-28	c.158 others(47): Show c.158-63500_158-63473delTATATATATATATATATATATATATA TA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	3/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54796254	CTATCTAT others(21): Show CTATCTATCTATCTATCTATGTATCTATG	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0020 a0020	a0020c0027 a0020c0027	a0020c0027t0001 a0020c0027t0001	a0020c0027t0001g0080 a0020c0027t0001g0080	1	102	0.0098	-28	c.-29 others(45): Show c.-29+4643_-29+4670delCATAGATACATAGATAGATAGATAGATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53918713	AACACACA others(21): Show AACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0032 a0008c0015t0001g0032	1	94	0.0106	-28	c.337 others(49): Show c.3374-15371_3374-15344delGTGTGTGTGTGTGTGTGTGTGTGT GTGT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	25/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54242128	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03139.hp2 HG03098.hp1 HG03139.hp2	a0002 a0033 a0002 a0033	a0002c0029 a0033c0022 a0002c0029 a0033c0022	a0002c0029t0001 a0033c0022t0001 a0002c0029t0001 a0033c0022t0001	a0002c0029t0001g0024 a0033c0022t0001g0004 a0002c0029t0001g0024 a0033c0022t0001g0004	2	94	0.0213	-28	c.877 others(45): Show c.877-5225_877-5198delTATATATATATATATATATATATATAAA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	8/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54242130	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0012 a0008c0016t0001g0012	1	94	0.0106	-28	c.877 others(45): Show c.877-5227_877-5200delTATATATATATATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	8/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54442414	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0027 a0027	a0027c0027 a0027c0027	a0027c0027t0008 a0027c0027t0008	a0027c0027t0008g0039 a0027c0027t0008g0039	1	94	0.0106	-28	c.158 others(47): Show c.158-63500_158-63473delTATATATATATATATATATATATATA TA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	3/32			chr10	TogoVar
PCDH19_chrX_100286644_100415273	100333150	GAAGGAAG others(21): Show GAAGGAAGGAAGGAAGGAAGGAAGGGAGA	G G	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	281	0.0036	-28	c.284 others(47): Show c.2848+8725_2848+8752delTCTCCCTTCCTTCCTTCCTTCCTTCC TT	PCDH19	ENSG00000165194.15	transcript	ENST00000373034.8	protein_coding	5/5			chrX	TogoVar
PCDH19_chrX_100286644_100415273	100333183	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG06807.hp2 others(1): Show HG02895.hp1 HG02897.hp2 HG06807.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 others(1): Show a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111	4	281	0.0142	-28	c.284 others(47): Show c.2848+8692_2848+8719delTTCTTTCTTTCTTTCTTTCTTTCTTT CT	PCDH19	ENSG00000165194.15	transcript	ENST00000373034.8	protein_coding	5/5			chrX	TogoVar
PCDH7_chr4_30715369_31151800	30824135	CTTTCTTT others(21): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19060.hp1 HG00609.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0014 a0001c0001t0008 a0001c0001t0014	a0001c0001t0008g0025 a0001c0001t0014g0032 a0001c0001t0008g0025 a0001c0001t0014g0032	2	214	0.0094	-28	c.317 others(49): Show c.3175-96016_3175-95989delTTCTTTCTTTCTTTCTTTCTTTCT TTTT	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDHGA10_chr5_141407987_141517975	141438611	TATATATA others(21): Show TATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02055.hp1 HG02145.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0020 a0001c0001 a0011c0020	a0001c0001t0001 a0011c0020t0002 a0001c0001t0001 a0011c0020t0002	a0001c0001t0001g0075 a0011c0020t0002g0207 a0001c0001t0001g0075 a0011c0020t0002g0207	2	306	0.0065	-28	c.243 others(49): Show c.2436+23002_2436+23029delTATATATATATATATATATATATA CACA	PCDHGA10	ENSG00000253846.3	transcript	ENST00000398610.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA11_chr5_141416051_141517975	141438611	TATATATA others(21): Show TATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02055.hp1 HG02145.hp1	a0001 a0001	a0001c0004 a0001c0016 a0001c0004 a0001c0016	a0001c0004t0001 a0001c0016t0003 a0001c0004t0001 a0001c0016t0003	a0001c0004t0001g0123 a0001c0016t0003g0073 a0001c0004t0001g0123 a0001c0016t0003g0073	2	310	0.0065	-28	c.243 others(49): Show c.2433+14953_2433+14980delTATATATATATATATATATATATA CACA	PCDHGA11	ENSG00000253873.6	transcript	ENST00000398587.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA12_chr5_141425507_141517975	141438611	TATATATA others(21): Show TATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02055.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0066 a0001c0001t0002g0317 a0001c0001t0001g0066 a0001c0001t0002g0317	2	318	0.0063	-28	c.242 others(47): Show c.2424+5430_2424+5457delTATATATATATATATATATATATACA CA	PCDHGA12	ENSG00000253159.3	transcript	ENST00000252085.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA1_chr5_141325514_141517975	141438611	TATATATA others(21): Show TATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02055.hp1 HG02145.hp2	a0006 a0009 a0006 a0009	a0006c0009 a0009c0021 a0006c0009 a0009c0021	a0006c0009t0001 a0009c0021t0002 a0006c0009t0001 a0009c0021t0002	a0006c0009t0001g0075 a0009c0021t0002g0182 a0006c0009t0001g0075 a0009c0021t0002g0182	2	268	0.0075	-28	c.242 others(49): Show c.2422-56194_2422-56167delTATATATATATATATATATATATA CACA	PCDHGA1	ENSG00000204956.6	transcript	ENST00000517417.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA2_chr5_141333760_141517975	141438611	TATATATA others(21): Show TATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02055.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0002 a0001c0013t0001 a0001c0001t0002 a0001c0013t0001	a0001c0001t0002g0002 a0001c0013t0001g0052 a0001c0001t0002g0002 a0001c0013t0001g0052	2	272	0.0074	-28	c.242 others(49): Show c.2425-56194_2425-56167delTATATATATATATATATATATATA CACA	PCDHGA2	ENSG00000081853.15	transcript	ENST00000394576.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA3_chr5_141338829_141517975	141438611	TATATATA others(21): Show TATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02055.hp2 HG02145.hp1	a0003 a0003	a0003c0003 a0003c0007 a0003c0003 a0003c0007	a0003c0003t0002 a0003c0007t0001 a0003c0003t0002 a0003c0007t0001	a0003c0003t0002g0018 a0003c0007t0001g0020 a0003c0003t0002g0018 a0003c0007t0001g0020	2	270	0.0074	-28	c.242 others(49): Show c.2425-56194_2425-56167delTATATATATATATATATATATATA CACA	PCDHGA3	ENSG00000254245.3	transcript	ENST00000253812.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA4_chr5_141350021_141517975	141438611	TATATATA others(21): Show TATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02055.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0007t0002 a0002c0002t0001 a0002c0007t0002	a0002c0002t0001g0272 a0002c0007t0002g0223 a0002c0002t0001g0272 a0002c0007t0002g0223	2	274	0.0073	-28	c.251 others(49): Show c.2515-56194_2515-56167delTATATATATATATATATATATATA CACA	PCDHGA4	ENSG00000262576.3	transcript	ENST00000571252.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA5_chr5_141359162_141517975	141438611	TATATATA others(21): Show TATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02055.hp2 HG02145.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0001 a0001c0007t0002 a0001c0003t0001 a0001c0007t0002	a0001c0003t0001g0218 a0001c0007t0002g0133 a0001c0003t0001g0218 a0001c0007t0002g0133	2	292	0.0069	-28	c.242 others(49): Show c.2422-56194_2422-56167delTATATATATATATATATATATATA CACA	PCDHGA5	ENSG00000253485.3	transcript	ENST00000518069.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA6_chr5_141368891_141517975	141438611	TATATATA others(21): Show TATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02055.hp2 HG02145.hp2	a0001 a0001	a0001c0003 a0001c0024 a0001c0003 a0001c0024	a0001c0003t0001 a0001c0024t0002 a0001c0003t0001 a0001c0024t0002	a0001c0003t0001g0261 a0001c0024t0002g0223 a0001c0003t0001g0261 a0001c0024t0002g0223	2	292	0.0069	-28	c.242 others(49): Show c.2425-56194_2425-56167delTATATATATATATATATATATATA CACA	PCDHGA6	ENSG00000253731.3	transcript	ENST00000517434.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar

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