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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Select column to sort.

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PARP16_chr15_65253099_65291883	65269180	C C	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	316	0.0032	25	c.312 others(42): Show c.312+1730_312+1754dupAGAAAGAAAGAAAGAAAGAAAGAAA		PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding	2/5						chr15	TogoVar
PARVG_chr22_44175925_44213469	44179762	A A	ATTCAGTT others(18): Show ATTCAGTTGCCGATGATTAGAGTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02132.hp2 others(2): Show HG01167.hp1 HG01169.hp2 HG02132.hp2 HG02486.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0010 a0001c0001t0021 a0001c0002t0001 others(1): Show a0001c0001t0010 a0001c0001t0021 a0001c0002t0001 a0001c0005t0009	a0001c0001t0010g0056 a0001c0001t0021g0055 a0001c0002t0001g0054 others(1): Show a0001c0001t0010g0056 a0001c0001t0021g0055 a0001c0002t0001g0054 a0001c0005t0009g0014	5	422	0.0119	25	c.-16 others(36): Show c.-1612_-1611insTTCAGTTGCCGATGATTAGAGTCTC		PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding					1162		chr22	TogoVar
PASD1_chrX_151558675_151681739	151562906	C C	CCGGGCGG others(18): Show CCGGGCGGGGGCGGGGGGGGGCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0168 a0001c0002t0002g0168	1	221	0.0045	25	c.-96 others(34): Show c.-961_-960insCGGGCGGGGGCGGGGGGGGGCGGGG		PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding					768		chrX	TogoVar
PATJ_chr1_61737480_62168915	61861284	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0035 a0035	a0035c0089 a0035c0089	a0035c0089t0004 a0035c0089t0004	a0035c0089t0004g0066 a0035c0089t0004g0066	1	158	0.0063	25	c.232 others(42): Show c.2323-244_2323-243insTTTTTTTTTTTTTTTTTTTTTTTTT		PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	18/43					INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61997982	T T	TTTATATA others(18): Show TTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0016 a0016	a0016c0110 a0016c0110	a0016c0110t0002 a0016c0110t0002	a0016c0110t0002g0134 a0016c0110t0002g0134	1	158	0.0063	25	c.386 others(44): Show c.3867+7619_3867+7620insTATATATATATATATATATATATAT		PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	28/43					INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62036871	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0030 a0030	a0030c0075 a0030c0075	a0030c0075t0003 a0030c0075t0003	a0030c0075t0003g0089 a0030c0075t0003g0089	1	158	0.0063	25	c.396 others(44): Show c.3960-1096_3960-1095insAAAAAAAAAAAAAAAAAAAAAAAAA		PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	29/43					INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62144769	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0057 a0057	a0057c0085 a0057c0085	a0057c0085t0007 a0057c0085t0007	a0057c0085t0007g0085 a0057c0085t0007g0085	1	158	0.0063	25	c.527 others(44): Show c.5272-3515_5272-3514insTATATATATATATATATATATATAT		PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43						chr1	TogoVar
PATJ_chr1_61737480_62168915	62144771	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01433.hp2 HG01928.hp2 others(1): Show HG01109.hp1 HG01433.hp2 HG01928.hp2 NA18993.hp2	a0005 a0011 a0012 a0005 a0011 a0012	a0005c0013 a0005c0031 a0011c0125 others(1): Show a0005c0013 a0005c0031 a0011c0125 a0012c0084	a0005c0013t0001 a0005c0031t0015 a0011c0125t0001 others(1): Show a0005c0013t0001 a0005c0031t0015 a0011c0125t0001 a0012c0084t0002	a0005c0013t0001g0103 a0005c0031t0015g0119 a0011c0125t0001g0001 others(1): Show a0005c0013t0001g0103 a0005c0031t0015g0119 a0011c0125t0001g0001 a0012c0084t0002g0035	4	158	0.0253	25	c.527 others(44): Show c.5272-3513_5272-3512insTATATATATATATATATATATATAT		PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43						chr1	TogoVar
PATZ1_chr22_31320804_31351346	31322342	C C	CGGAGGGG others(18): Show CGGAGGGGGCAGGAAAAGCTTTGTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0077 a0001c0010t0001g0077	1	386	0.0026	25	c.45 others(36): Show c.4548_*4549insCTACAAAGCTTTTCCTGCCCCCTCC		PATZ1	ENSG00000100105.18	transcript	ENST00000266269.10	protein_coding					3461		chr22	TogoVar
PAX2_chr10_100740582_100834944	100769626	G G	GAATAAAA others(18): Show GAATAAAATAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03831.hp1 HG03017.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0119 a0001c0001t0001g0089 a0001c0001t0001g0119	2	232	0.0086	25	c.411 others(42): Show c.411-9849_411-9825dupTAAAATAAAATAAAATAAAATAAAA		PAX2	ENSG00000075891.24	transcript	ENST00000355243.8	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr10	TogoVar
PAX5_chr9_36828269_37039268	36973083	C C	CGGAACGG others(18): Show CGGAACGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0200 a0001c0002t0009g0200	1	274	0.0037	25	c.605 others(42): Show c.605-6360_605-6359insTTTCCTTTCCTTTCCTTTCCGTTCC		PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9						chr9	TogoVar
PAX5_chr9_36828269_37039268	36984435	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0253 a0001c0002t0009g0253	1	274	0.0037	25	c.605 others(44): Show c.605-17712_605-17711insAAAAAAAAAAAAAAAAAAAAAAAAA		PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9						chr9	TogoVar
PAX7_chr1_18625846_18753866	18632311	G G	GAGAGAAC others(18): Show GAGAGAACCTCTAAACGGCGAGGTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0032 a0001c0002t0005g0032	1	302	0.0033	25	c.85+ others(38): Show c.85+645_85+669dupGTTTAGAGAACCTCTAAACGGCGAG		PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PAX7_chr1_18625846_18753866	18681732	T T	TTTATTTT others(18): Show TTTATTTTATTTTATTTTATTTTATG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0020 a0001c0005t0020	a0001c0005t0020g0257 a0001c0005t0020g0257	1	302	0.0033	25	c.587 others(43): Show c.587-10000_587-9999insATGTTATTTTATTTTATTTTATTTT		PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PAX9_chr14_36656860_36684362	36673530	C C	CAGGGGGA others(18): Show CAGGGGGAACATCTCTGGGCAAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(344): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19065.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0002c0002 a0002c0008 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0023 a0001c0005t0002 a0001c0007t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0010 a0002c0002t0011 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0017 a0002c0002t0018 a0002c0002t0021 a0002c0002t0022 a0002c0002t0024 a0002c0002t0026 a0002c0002t0031 a0002c0008t0004 a0004c0006t0008	a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0066 others(247): Show a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0066 a0001c0001t0001g0077 a0001c0001t0001g0225 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0279 a0001c0001t0002g0019 a0001c0001t0002g0028 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0002g0223 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0253 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0057 a0001c0001t0003g0067 a0001c0001t0003g0092 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0214 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0227 a0001c0001t0003g0230 a0001c0001t0003g0243 a0001c0001t0003g0252 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0263 a0001c0001t0003g0273 a0001c0001t0003g0275 a0001c0001t0003g0285 a0001c0001t0004g0069 a0001c0001t0004g0075 a0001c0001t0004g0205 a0001c0001t0004g0215 a0001c0001t0004g0220 a0001c0001t0004g0226 a0001c0001t0004g0251 a0001c0001t0004g0254 a0001c0001t0004g0261 a0001c0001t0004g0264 a0001c0001t0004g0281 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0294 a0001c0001t0004g0296 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0005g0262 a0001c0001t0005g0266 a0001c0001t0006g0021 a0001c0001t0006g0068 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0006g0293 a0001c0001t0007g0004 a0001c0001t0007g0058 a0001c0001t0007g0064 a0001c0001t0007g0072 a0001c0001t0007g0202 a0001c0001t0007g0221 a0001c0001t0007g0222 a0001c0001t0008g0029 a0001c0001t0008g0288 a0001c0001t0008g0290 a0001c0001t0009g0022 a0001c0001t0009g0060 a0001c0001t0009g0071 a0001c0001t0009g0074 a0001c0001t0009g0080 a0001c0001t0010g0061 a0001c0001t0010g0224 a0001c0001t0010g0282 a0001c0001t0010g0284 a0001c0001t0011g0073 a0001c0001t0011g0236 a0001c0001t0011g0246 a0001c0001t0011g0270 a0001c0001t0011g0287 a0001c0001t0013g0064 a0001c0001t0015g0295 a0001c0001t0016g0197 a0001c0001t0016g0286 a0001c0001t0018g0238 a0001c0001t0020g0065 a0001c0001t0025g0289 a0001c0001t0027g0283 a0001c0001t0030g0256 a0001c0003t0001g0026 a0001c0003t0001g0166 a0001c0003t0001g0171 a0001c0003t0001g0173 a0001c0003t0001g0180 a0001c0003t0001g0183 a0001c0003t0001g0185 a0001c0003t0001g0195 a0001c0003t0001g0277 a0001c0003t0002g0006 a0001c0003t0002g0016 a0001c0003t0002g0051 a0001c0003t0002g0052 a0001c0003t0002g0162 a0001c0003t0002g0172 a0001c0003t0002g0276 a0001c0003t0003g0176 a0001c0003t0003g0184 a0001c0003t0005g0157 a0001c0003t0005g0159 a0001c0003t0005g0182 a0001c0003t0023g0051 a0001c0005t0002g0265 a0001c0005t0002g0271 a0001c0005t0002g0272 a0001c0007t0003g0057 a0002c0002t0001g0005 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0023 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0035 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0088 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0100 a0002c0002t0001g0104 a0002c0002t0001g0109 a0002c0002t0001g0122 a0002c0002t0001g0128 a0002c0002t0001g0131 a0002c0002t0001g0139 a0002c0002t0001g0142 a0002c0002t0001g0147 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0002g0010 a0002c0002t0002g0012 a0002c0002t0002g0015 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0045 a0002c0002t0002g0081 a0002c0002t0002g0087 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0095 a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0002g0103 a0002c0002t0002g0105 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0126 a0002c0002t0002g0137 a0002c0002t0002g0152 a0002c0002t0003g0009 a0002c0002t0003g0036 a0002c0002t0003g0043 a0002c0002t0003g0089 a0002c0002t0003g0098 a0002c0002t0003g0101 a0002c0002t0003g0112 a0002c0002t0003g0116 a0002c0002t0003g0118 a0002c0002t0003g0123 a0002c0002t0003g0125 a0002c0002t0003g0127 a0002c0002t0003g0134 a0002c0002t0003g0136 a0002c0002t0003g0143 a0002c0002t0003g0150 a0002c0002t0003g0151 a0002c0002t0004g0111 a0002c0002t0004g0120 a0002c0002t0004g0124 a0002c0002t0004g0133 a0002c0002t0004g0135 a0002c0002t0004g0153 a0002c0002t0004g0301 a0002c0002t0005g0010 a0002c0002t0005g0024 a0002c0002t0005g0039 a0002c0002t0005g0044 a0002c0002t0005g0107 a0002c0002t0005g0121 a0002c0002t0006g0141 a0002c0002t0006g0302 a0002c0002t0007g0032 a0002c0002t0007g0096 a0002c0002t0008g0082 a0002c0002t0008g0083 a0002c0002t0008g0085 a0002c0002t0008g0298 a0002c0002t0010g0102 a0002c0002t0010g0115 a0002c0002t0010g0140 a0002c0002t0011g0086 a0002c0002t0011g0144 a0002c0002t0013g0023 a0002c0002t0013g0040 a0002c0002t0014g0005 a0002c0002t0015g0297 a0002c0002t0017g0013 a0002c0002t0018g0132 a0002c0002t0021g0110 a0002c0002t0022g0013 a0002c0002t0024g0084 a0002c0002t0026g0009 a0002c0002t0031g0108 a0002c0008t0004g0106 a0004c0006t0008g0148	347	446	0.7780	25	c.772 others(42): Show c.772-2667_772-2666insGGGGGAACATCTCTGGGCAAAAAGA		PAX9	ENSG00000198807.13	transcript	ENST00000361487.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr14	TogoVar
PBK_chr8_27804624_27842817	27816343	C C	CATATATA others(18): Show CATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0219 a0001c0003t0008g0219	1	392	0.0026	25	c.595 others(42): Show c.595+4221_595+4222insTATATATATATATATATATATATAT		PBK	ENSG00000168078.10	transcript	ENST00000301905.9	protein_coding	6/7						chr8	TogoVar
PBK_chr8_27804624_27842817	27816343	C C	CTTATATA others(18): Show CTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03209.hp2 HG02717.hp1 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0041 a0001c0003t0008g0041	2	392	0.0051	25	c.595 others(42): Show c.595+4221_595+4222insTATATATATATATATATATATATAA		PBK	ENSG00000168078.10	transcript	ENST00000301905.9	protein_coding	6/7						chr8	TogoVar
PBRM1_chr3_52540367_52690913	52636757	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA18949.hp2 NA19062.hp2 others(1): Show HG03491.hp1 NA18949.hp2 NA19062.hp2 NA19083.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0010 a0001c0002 a0004c0010	a0001c0002t0001 a0004c0010t0001 a0001c0002t0001 a0004c0010t0001	a0001c0002t0001g0189 a0001c0002t0001g0225 a0001c0002t0001g0288 others(1): Show a0001c0002t0001g0189 a0001c0002t0001g0225 a0001c0002t0001g0288 a0004c0010t0001g0160	4	300	0.0133	25	c.108 others(44): Show c.1088-1967_1088-1943dupTTTTTTTTTTTTTTTTTTTTTTTTT		PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	11/31						chr3	TogoVar
PBRM1_chr3_52540367_52690913	52637773	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0194 a0001c0002t0001g0194	1	300	0.0033	25	c.108 others(44): Show c.1088-2959_1088-2958insTTTTTTTTTTTTTTTTTTTTTTTTT		PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	11/31						chr3	TogoVar
PBRM1_chr3_52540367_52690913	52676114	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0017 a0002c0009t0017	a0002c0009t0017g0137 a0002c0009t0017g0137	1	300	0.0033	25	c.236 others(42): Show c.236+2361_236+2385dupTTTTTTTTTTTTTTTTTTTTTTTTT		PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	3/31						chr3	TogoVar
PBX3_chr9_125742373_125972377	125793366	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	294	0.0034	25	c.274 others(44): Show c.274+44744_274+44745insAAAAAAATATATATATATATATATA		PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX4_chr19_19556713_19623687	19572418	C C	CTCAGATG others(18): Show CTCAGATGACAATTCCGTTTGATTAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0053 a0004c0004t0001g0053	1	376	0.0027	25	c.194 others(42): Show c.194-1610_194-1586dupATAATCAAACGGAATTGTCATCTGA		PBX4	ENSG00000105717.14	transcript	ENST00000251203.14	protein_coding	2/7						chr19	TogoVar
PCBP2_chr12_53447102_53486162	53470378	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0282 a0001c0001t0007g0283 a0001c0001t0007g0282 a0001c0001t0007g0283	2	348	0.0058	25	c.883 others(42): Show c.883-1236_883-1235insAAAAAAAAAAAAAAAAAAAAAAAAA		PCBP2	ENSG00000197111.16	transcript	ENST00000546463.6	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
PCBP3_chr21_45638725_45947450	45646093	C C	CTCTCTCT others(18): Show CTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	292	0.0034	25	c.-27 others(44): Show c.-279+2240_-279+2241insCTCTCTCTCTTCTCTCTCTCTCTCT		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45815205	G G	GTGGTGAG others(18): Show GTGGTGAGTGGTGAGTGAGTGGTGAA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01943.hp1 HG02027.hp2 others(8): Show HG01928.hp2 HG01943.hp1 HG02027.hp2 HG02080.hp1 HG02129.hp1 NA18940.hp2 NA18951.hp2 NA18967.hp1 NA19002.hp2 NA19005.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0021 a0001c0001t0003 a0001c0001t0021	a0001c0001t0003g0008 a0001c0001t0003g0032 a0001c0001t0003g0037 others(8): Show a0001c0001t0003g0008 a0001c0001t0003g0032 a0001c0001t0003g0037 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0021g0085	11	292	0.0377	25	c.-12 others(46): Show c.-125-34754_-125-34753insGTGAGTGGTGAGTGAGTGGTGAAT G		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45815262	G G	GTGAGTGG others(18): Show GTGAGTGGTGAGTGAGTGGTGAGTGA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	292	0.0034	25	c.-12 others(46): Show c.-125-34693_-125-34692insGTGAGTGAGTGGTGAGTGATGAGT G		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45815311	G G	GGTGAGTG others(18): Show GGTGAGTGGTGAGTGGTGAGTGATGA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	292	0.0034	25	c.-12 others(46): Show c.-125-34636_-125-34635insGTGAGTGATGAGTGAGTGGTGAGT G		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCCA_chr13_100084093_100535435	100188294	A A	AAAAACAA others(18): Show AAAAACAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG04184.hp1 HG02615.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0135 a0001c0001t0001g0119 a0001c0001t0001g0135	2	174	0.0115	25	c.469 others(44): Show c.469-21028_469-21004dupCAAAACAAAACAAAACAAAACAAAA		PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	6/23					INFO_REALIGN_3_PRIME	chr13	TogoVar
PCDH11X_chrX_91774375_92628230	92111219	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01167.hp1 HG00673.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0031 a0001c0001t0002g0103 a0001c0001t0001g0031 a0001c0001t0002g0103	2	154	0.0130	25	c.303 others(46): Show c.3034-90148_3034-90124dupAAAAAAAAAAAAAAAAAAAAAAAA A		PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92147854	T T	TCTTTCTT others(18): Show TCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	154	0.0065	25	c.303 others(46): Show c.3034-53521_3034-53520insCTTTCTTTCTTTCTTTCTTTCTTT C		PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10						chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92326622	C C	CTATATAT others(18): Show CTATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02738.hp1 HG03017.hp1 others(1): Show HG01081.hp2 HG02738.hp1 HG03017.hp1 NA18952.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0002c0004t0009 a0001c0001t0001 a0001c0001t0002 a0002c0004t0009	a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0002g0133 others(1): Show a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0002g0133 a0002c0004t0009g0041	4	154	0.0260	25	c.314 others(46): Show c.3145-61095_3145-61094insTATATAATATATATATATATATAT A		PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92326625	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	154	0.0065	25	c.314 others(46): Show c.3145-61095_3145-61094insTATATATATAATATATATATATAT A		PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92375166	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	154	0.0065	25	c.314 others(46): Show c.3145-12568_3145-12567insATATATATATATATATATATATAT T		PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11Y_chrY_4995296_5747224	5373156	T T	TTTCTTTC others(18): Show TTTCTTTCTTTCTTTCTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	115	0.0087	25	c.285 others(48): Show c.2854-127884_2854-127883insTTTCTTTCTTCTTTCTTTCTTT CTC		PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	3/5					INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH15_chr10_53797771_54806231	53822028	A A	ACATGTTA others(18): Show ACATGTTAGCTACTGATTTTTCAAGT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0035 a0035	a0035c0025 a0035c0025	a0035c0025t0007 a0035c0025t0007	a0035c0025t0007g0079 a0035c0025t0007g0079	1	102	0.0098	25	c.436 others(44): Show c.4368-1823_4368-1799dupACTTGAAAAATCAGTAGCTAACATG		PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	32/37						chr10	TogoVar
PCDH15_chr10_53797771_54806231	53823728	A A	ATCGAAGC others(18): Show ATCGAAGCTACCAACTTCTTATCTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02145.hp1 HG02145.hp2 others(7): Show HG01069.hp1 HG02145.hp1 HG02145.hp2 HG02615.hp2 HG02622.hp1 HG02886.hp1 HG03041.hp1 HG03098.hp1 HG03579.hp1 NA19043.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0018 a0022 a0025 a0028	a0001c0001 a0002c0002 a0003c0003 others(5): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0018c0037 a0022c0028 a0025c0030 a0028c0034	a0001c0001t0008 a0001c0001t0014 a0002c0002t0009 others(6): Show a0001c0001t0008 a0001c0001t0014 a0002c0002t0009 a0003c0003t0009 a0005c0005t0009 a0018c0037t0013 a0022c0028t0004 a0025c0030t0018 a0028c0034t0013	a0001c0001t0008g0003 a0001c0001t0014g0067 a0001c0001t0014g0074 others(7): Show a0001c0001t0008g0003 a0001c0001t0014g0067 a0001c0001t0014g0074 a0002c0002t0009g0027 a0003c0003t0009g0018 a0005c0005t0009g0085 a0018c0037t0013g0062 a0022c0028t0004g0013 a0025c0030t0018g0007 a0028c0034t0013g0058	10	102	0.0980	25	c.436 others(44): Show c.4368-3499_4368-3498insAAAGATAAGAAGTTGGTAGCTTCGA		PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	32/37						chr10	TogoVar
PCDH15_chr10_53797771_54806231	53888702	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	102	0.0098	25	c.350 others(46): Show c.3501+14540_3501+14541insTATATATATATATATATATATATA T		PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	26/37						chr10	TogoVar
PCDH15_chr10_53797771_54806231	54216044	G G	GGAAAAAA others(18): Show GGAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0067 a0001c0001t0014g0067	1	102	0.0098	25	c.986 others(42): Show c.986-1997_986-1996insTTTTTTTTTTTTTTTTTTTTTTTTC		PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	9/37						chr10	TogoVar
PCDH15_chr10_53816099_54806231	53822028	A A	ACATGTTA others(18): Show ACATGTTAGCTACTGATTTTTCAAGT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG03486.hp1 HG03486.hp1	a0031 a0031	a0031c0032 a0031c0032	a0031c0032t0001 a0031c0032t0001	a0031c0032t0001g0072 a0031c0032t0001g0072	1	94	0.0106	25	c.567 others(34): Show c.5673_5697dupACTTGAAAAATCAGTAGCTAACATG	p.Tyr others(6): Show p.Tyr1900fs	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	33/33	6032/6962	5697/5868	1899/1955			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53823728	A A	ATCGAAGC others(18): Show ATCGAAGCTACCAACTTCTTATCTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02145.hp1 HG02145.hp2 others(6): Show HG01069.hp2 HG02145.hp1 HG02145.hp2 HG02615.hp2 HG02622.hp2 HG03041.hp2 HG03098.hp1 HG03579.hp1 NA19043.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0010 a0016 a0018 a0021	a0001c0001 a0002c0029 a0003c0025 others(5): Show a0001c0001 a0002c0029 a0003c0025 a0005c0036 a0010c0010 a0016c0043 a0018c0034 a0021c0038	a0001c0001t0001 a0002c0029t0001 a0003c0025t0001 others(5): Show a0001c0001t0001 a0002c0029t0001 a0003c0025t0001 a0005c0036t0001 a0010c0010t0003 a0016c0043t0004 a0018c0034t0003 a0021c0038t0004	a0001c0001t0001g0003 a0002c0029t0001g0024 a0003c0025t0001g0018 others(6): Show a0001c0001t0001g0003 a0002c0029t0001g0024 a0003c0025t0001g0018 a0005c0036t0001g0077 a0010c0010t0003g0061 a0010c0010t0003g0068 a0016c0043t0004g0058 a0018c0034t0003g0013 a0021c0038t0004g0007	9	94	0.0957	25	c.436 others(42): Show c.4368-371_4368-370insAAAGATAAGAAGTTGGTAGCTTCGA		PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	32/32						chr10	TogoVar
PCDH15_chr10_53816099_54806231	53888702	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	94	0.0106	25	c.350 others(46): Show c.3501+14540_3501+14541insTATATATATATATATATATATATA T		PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	26/32						chr10	TogoVar
PCDH15_chr10_53816099_54806231	54216044	G G	GGAAAAAA others(18): Show GGAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0003 a0010c0010t0003	a0010c0010t0003g0061 a0010c0010t0003g0061	1	94	0.0106	25	c.986 others(42): Show c.986-1997_986-1996insTTTTTTTTTTTTTTTTTTTTTTTTC		PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	9/32						chr10	TogoVar
PCDH17_chr13_57626744_57734311	57658764	G G	GTTTGTTT others(18): Show GTTTGTTTTGTTTTGTTTTGTTTTGT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0117 a0001c0001t0004g0117	1	310	0.0032	25	c.256 others(44): Show c.2566-7694_2566-7670dupTTTTGTTTTGTTTTGTTTTGTTTTG		PCDH17	ENSG00000118946.12	transcript	ENST00000377918.8	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr13	TogoVar
PCDH19_chrX_100286644_100415273	100322865	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0100 a0001c0001t0017g0100	1	281	0.0036	25	c.284 others(46): Show c.2848+19037_2848+19038insAAAAAAATATATATATATATATAT A		PCDH19	ENSG00000165194.15	transcript	ENST00000373034.8	protein_coding	5/5						chrX	TogoVar
PCDH7_chr4_30715369_31151800	30974246	C C	CTTCCTTT others(18): Show CTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02280.hp1 HG03453.hp2 others(4): Show HG01109.hp1 HG02280.hp1 HG03453.hp2 HG03471.hp2 HG03579.hp1 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0019 a0001c0016t0032	a0001c0001t0002g0116 a0001c0001t0002g0200 a0001c0001t0006g0118 others(4): Show a0001c0001t0002g0116 a0001c0001t0002g0200 a0001c0001t0006g0118 a0001c0001t0007g0197 a0001c0001t0019g0177 a0001c0001t0019g0178 a0001c0016t0032g0101	7	214	0.0327	25	c.339 others(46): Show c.3391+53881_3391+53905dupCTTTCCTTTCCTTTCCTTTCCTTT C		PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH7_chr4_30715369_31151800	31056458	G G	GAAAAAGA others(18): Show GAAAAAGAAAGAAGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0032 a0001c0001t0014g0032	1	214	0.0047	25	c.339 others(46): Show c.3392-86013_3392-86012insAAAGAAAGAAGAAGAAAGAAAGAA A		PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH9_chr13_66297834_67235336	66829717	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0038 a0001c0003t0001g0038	1	80	0.0125	25	c.313 others(46): Show c.3138+73762_3138+73786dupTTTTTTTTTTTTTTTTTTTTTTTT T		PCDH9	ENSG00000184226.15	transcript	ENST00000377865.7	protein_coding	3/4						chr13	TogoVar
PCDH9_chr13_66297834_67235336	66934558	G G	GAAAAAGA others(18): Show GAAAAAGAAAAAGAAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00741.hp2 others(18): Show HG00438.hp1 HG00438.hp2 HG00741.hp2 HG01109.hp2 HG01167.hp2 HG01496.hp1 HG01884.hp2 HG02132.hp1 HG02165.hp1 HG02630.hp2 HG02738.hp1 HG02809.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03540.hp1 HG03579.hp1 HG03927.hp2 NA18522.hp1 NA18950.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0011 a0001c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0004t0001 a0001c0011t0007 a0001c0014t0004	a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0066 others(18): Show a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0003g0059 a0001c0001t0005g0071 a0001c0002t0002g0011 a0001c0002t0002g0013 a0001c0002t0002g0016 a0001c0002t0002g0023 a0001c0002t0004g0010 a0001c0002t0004g0022 a0001c0003t0001g0031 a0001c0003t0001g0039 a0001c0003t0003g0046 a0001c0003t0005g0036 a0001c0003t0005g0045 a0001c0004t0001g0041 a0001c0004t0001g0043 a0001c0011t0007g0002 a0001c0014t0004g0024	21	80	0.2625	25	c.303 others(46): Show c.3037-30954_3037-30953insTTCTTTTCTTTTTCTTTTTCTTTT T		PCDH9	ENSG00000184226.15	transcript	ENST00000377865.7	protein_coding	2/4						chr13	TogoVar
PCDHB12_chr5_141203719_141217571	141204212	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0000 a0002c0002t0006g0000	1	432	0.0023	25	c.-46 others(36): Show c.-4696_-4695insAAAAAAAAAAAAAAAAAAAAAAAAA		PCDHB12	ENSG00000120328.6	transcript	ENST00000239450.4	protein_coding					4506		chr5	TogoVar
PCED1B_chr12_47074621_47241660	47131673	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0139 a0001c0003t0002g0139	1	322	0.0031	25	c.-52 others(46): Show c.-526+27492_-526+27493insTTTTTTTTTTTTTTTTTTTTTTTT T		PCED1B	ENSG00000179715.13	transcript	ENST00000546455.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr12	TogoVar

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