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
PTK7_chr6_43071314_43166715	43150787	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	272	0.0037	23	c.272 others(42): Show c.2721+4096_2721+4118dupTTTTTTTTTTTTTTTTTTTTTTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTK7_chr6_43071314_43166715	43157364	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	272	0.0037	23	c.272 others(42): Show c.2722-1452_2722-1451insATATATATATATATATTTTTTTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTK7_chr6_43071314_43166715	43163591	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	272	0.0037	23	c.27 others(34): Show c.2710_*2711insAAAAAAAAAAAAAAAAAAAAAAA	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding		1877		chr6	TogoVar
PTN_chr7_137222341_137348733	137280699	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02717.hp1 NA18955.hp1 HG01243.hp1 HG02717.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0106 a0001c0001t0001g0290 a0001c0001t0001g0291	3	296	0.0101	23	c.-1- others(40): Show c.-1-25748_-1-25726dupTTTTTTTTTTTTTTTTTTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	296	0.0034	23	c.-2+ others(40): Show c.-2+19005_-2+19006insATATATATATTTTTTTTTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	296	0.0034	23	c.-2+ others(40): Show c.-2+19005_-2+19006insATATATATATATATATATATTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTP4A2_chr1_31901421_31943368	31925298	T T	TTCTATAA others(16): Show TTCTATAATCATAGGATTAGAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	354	0.0028	23	c.-59 others(42): Show c.-593-5663_-593-5641dupCTTTCTAATCCTATGATTATAGA	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	1/5			chr1	TogoVar
PTP4A3_chr8_141387021_141437454	141415719	G G	GGTGGGGT others(16): Show GGTGGGGTGGGGTGGGGAGAGGGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02486.hp2 others(1): Show HG02145.hp2 HG02451.hp1 HG02486.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0029 a0001c0001t0001 a0001c0001t0017 a0001c0001t0029	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0017g0038 others(1): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0017g0038 a0001c0001t0029g0050	4	323	0.0124	23	c.-85 others(42): Show c.-853-5623_-853-5601dupTGTGGGGTGGGGTGGGGAGAGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTPA_chr9_129106415_129153946	129139942	C C	CAGGCAGG others(16): Show CAGGCAGGAAAAGAATTTCAGTTT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	334	0.0030	23	c.786 others(40): Show c.786+2251_786+2273dupAGGCAGGAAAAGAATTTCAGTTT	PTPA	ENSG00000119383.21	transcript	ENST00000393370.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
PTPN13_chr4_86589315_86820161	86705333	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02735.hp2 HG01123.hp2 HG02735.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0004 a0004c0005t0004g0005 a0004c0005t0004g0004 a0004c0005t0004g0005	2	198	0.0101	23	c.119 others(42): Show c.1195+3547_1195+3548insAAAAAAAAAAAAAAAAAAAAAAA	PTPN13	ENSG00000163629.13	transcript	ENST00000411767.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr4	TogoVar
PTPN13_chr4_86589315_86820161	86757762	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02970.hp1 HG03098.hp2 HG01891.hp1 HG02970.hp1 HG03098.hp2	a0003 a0014 a0003 a0014	a0003c0006 a0014c0026 a0003c0006 a0014c0026	a0003c0006t0003 a0014c0026t0003 a0003c0006t0003 a0014c0026t0003	a0003c0006t0003g0022 a0003c0006t0003g0024 a0014c0026t0003g0019 a0003c0006t0003g0022 a0003c0006t0003g0024 a0014c0026t0003g0019	3	198	0.0152	23	c.322 others(40): Show c.3224-482_3224-481insAAAAAAAAAAAAAAAAAAAAAAA	PTPN13	ENSG00000163629.13	transcript	ENST00000411767.7	protein_coding	20/47		INFO_REALIGN_3_PRIME	chr4	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01346.hp1 HG01496.hp2 others(1): Show HG00733.hp2 HG01346.hp1 HG01496.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0002t0001	a0001c0001t0003g0006 a0001c0001t0005g0168 a0001c0001t0009g0004 others(1): Show a0001c0001t0003g0006 a0001c0001t0005g0168 a0001c0001t0009g0004 a0001c0002t0001g0003	4	272	0.0147	23	c.-15 others(44): Show c.-155+31117_-155+31118insATATATATATTTTTTTTTTTTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0120 a0001c0001t0120	a0001c0001t0120g0196 a0001c0001t0120g0196	1	272	0.0037	23	c.-15 others(44): Show c.-155+31117_-155+31118insATATATATATATATATATATATT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN1_chr20_50505383_50590241	50524569	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	336	0.0030	23	c.63+ others(40): Show c.63+13982_63+14004dupTTTTTTTTTTTTTTTTTTTTTTT	PTPN1	ENSG00000196396.10	transcript	ENST00000371621.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPN1_chr20_50505383_50590241	50554380	A A	ATTCTCTC others(16): Show ATTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01243.hp2 others(16): Show HG01069.hp2 HG01071.hp2 HG01243.hp2 HG01515.hp2 HG01884.hp1 HG01975.hp1 HG02129.hp1 HG02523.hp1 HG03654.hp2 NA18944.hp2 NA18947.hp1 NA18949.hp2 NA18959.hp1 NA18992.hp1 NA19010.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0003t0001 a0001c0009t0001 a0001c0001t0001 a0001c0003t0001 a0001c0009t0001	a0001c0001t0001g0069 a0001c0001t0001g0088 a0001c0001t0001g0089 others(16): Show a0001c0001t0001g0069 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0126 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0158 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0216 a0001c0001t0001g0238 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0003t0001g0016 a0001c0009t0001g0141	19	336	0.0566	23	c.64- others(38): Show c.64-6982_64-6981insTCTCTCTCTCTCTCTCTCTCTCT	PTPN1	ENSG00000196396.10	transcript	ENST00000371621.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPN21_chr14_88460778_88560007	88518414	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0209 a0001c0001t0003g0209	1	348	0.0029	23	c.181 others(40): Show c.181-1154_181-1153insATATATATATATATATATATATA	PTPN21	ENSG00000070778.13	transcript	ENST00000556564.6	protein_coding	2/18			chr14	TogoVar
PTPN21_chr14_88460778_88560007	88518415	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0137 a0001c0001t0005g0137	1	348	0.0029	23	c.181 others(40): Show c.181-1155_181-1154insTATATATATATATATATATATAT	PTPN21	ENSG00000070778.13	transcript	ENST00000556564.6	protein_coding	2/18			chr14	TogoVar
PTPN23_chr3_47376021_47418435	47417859	A A	ACGGGGGA others(16): Show ACGGGGGAGGGGGGTGAGAGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0001 a0002c0032t0001	a0002c0032t0001g0004 a0002c0032t0001g0004	1	332	0.0030	23	c.46 others(34): Show c.4674_*4675insCGGGGGAGGGGGGTGAGAGGGGG	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding		4425		chr3	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	370	0.0027	23	c.859 others(40): Show c.859-5436_859-5435insATATATATATTTTTTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0053 a0001c0001t0021g0053	1	370	0.0027	23	c.859 others(40): Show c.859-5436_859-5435insATATATATATATATATATATATT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12835382	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0004 a0001c0001t0012g0004	1	370	0.0027	23	c.261 others(40): Show c.261+1408_261+1409insAAAAAAAAAAAAAAAAAAAAAAA	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	3/8			chr18	TogoVar
PTPN9_chr15_75458251_75584315	75537753	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG00735.hp1 others(11): Show HG00323.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01123.hp2 HG01346.hp2 HG01361.hp2 HG02602.hp1 HG02622.hp2 HG03491.hp1 HG03927.hp2 NA18906.hp2 NA18977.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0002t0001	a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0001t0001g0154 others(11): Show a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0003g0020 a0001c0001t0006g0302 a0001c0001t0006g0303 a0001c0001t0006g0308 a0001c0001t0006g0309 a0001c0001t0006g0320 a0001c0001t0010g0002 a0001c0001t0010g0003 a0001c0001t0010g0004 a0001c0001t0010g0005 a0001c0002t0001g0174	14	326	0.0429	23	c.64- others(40): Show c.64-10515_64-10493dupTTTTTTTTTTTTTTTTTTTTTTT	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPRA_chr20_2868481_3043669	3029540	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	356	0.0028	23	c.192 others(42): Show c.1920+1717_1920+1718insTTTTTTTTTTTTTTTTTTTTTTT	PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPRD_chr9_8309246_10618002	8556553	A A	ATTTTATA others(16): Show ATTTTATATTTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	34	0.0294	23	c.353 others(42): Show c.353-27775_353-27774insAAAAAAAAAAAAGAAATATAAAA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	14/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9208020	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0031 a0001c0003t0023g0031	1	34	0.0294	23	c.-20 others(44): Show c.-202-24658_-202-24657insAAAAAAAAAAAAAAAAAAAAAAA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	9/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10065141	T T	TGAAAGAA others(16): Show TGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0029 a0001c0003t0007g0029	1	34	0.0294	23	c.-54 others(44): Show c.-544-31352_-544-31351insTTCTTTCTTTCTTTCTTTCTTTC	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	3/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10169473	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0019 a0001c0005t0001g0019	1	34	0.0294	23	c.-54 others(46): Show c.-544-135684_-544-135683insTTTTTTTTTTTTTTTTTTTTTT T	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	3/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10278155	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0025 a0001c0002t0005g0025	1	34	0.0294	23	c.-54 others(44): Show c.-545+62807_-545+62808insTTTTTTTTTTTTTTTTTTTTTTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	3/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10504115	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0026 a0001c0006t0026	a0001c0006t0026g0034 a0001c0006t0026g0034	1	34	0.0294	23	c.-60 others(46): Show c.-600+108260_-600+108282dupTTTTTTTTTTTTTTTTTTTTTT T	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
PTPRG_chr3_61556571_62302609	61676456	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01071.hp1 HG02040.hp1 others(1): Show HG00735.hp2 HG01071.hp1 HG02040.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0057 a0001c0001t0001g0072 a0001c0001t0001g0079 others(1): Show a0001c0001t0001g0057 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0002g0062	4	94	0.0426	23	c.86- others(40): Show c.86-72404_86-72403insAAAAAAAAAAAAAAAAAAAAAAA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61894301	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	94	0.0106	23	c.191 others(42): Show c.191-95313_191-95291dupAAAAAAAAAAAAAAAAAAAAAAA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61986115	C C	CAATCATC others(16): Show CAATCATCATATTTAATATGATTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03098.hp1 HG03225.hp2 others(1): Show HG02258.hp1 HG03098.hp1 HG03225.hp2 HG03453.hp2	a0003 a0007 a0003 a0007	a0003c0004 a0003c0013 a0007c0009 a0003c0004 a0003c0013 a0007c0009	a0003c0004t0002 a0003c0004t0007 a0003c0013t0001 others(1): Show a0003c0004t0002 a0003c0004t0007 a0003c0013t0001 a0007c0009t0002	a0003c0004t0002g0071 a0003c0004t0007g0076 a0003c0013t0001g0004 others(1): Show a0003c0004t0002g0071 a0003c0004t0007g0076 a0003c0013t0001g0004 a0007c0009t0002g0032	4	94	0.0426	23	c.191 others(40): Show c.191-3497_191-3475dupTAATATGATTGAATCATCATATT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	62281538	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01255.hp2 HG02809.hp1 others(1): Show HG01099.hp1 HG01255.hp2 HG02809.hp1 HG02965.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0003c0004 a0001c0001 a0001c0008 a0003c0004	a0001c0001t0003 a0001c0008t0005 a0003c0004t0013 a0001c0001t0003 a0001c0008t0005 a0003c0004t0013	a0001c0001t0003g0023 a0001c0008t0005g0030 a0001c0008t0005g0068 others(1): Show a0001c0001t0003g0023 a0001c0008t0005g0030 a0001c0008t0005g0068 a0003c0004t0013g0054	4	94	0.0426	23	c.376 others(38): Show c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTTTT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRH_chr19_55176247_55214501	55199307	A A	AAGAAAGA others(16): Show AAGAAAGAAAGAGAGAGAGAGGCC	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0237 a0002c0002t0002g0237	1	378	0.0027	23	c.142 others(40): Show c.1421-418_1421-396dupGGCCTCTCTCTCTCTTTCTTTCT	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	7/19			chr19	TogoVar
PTPRJ_chr11_47975559_48175839	47988879	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0022 a0006c0010t0022	a0006c0010t0022g0009 a0006c0010t0022g0009	1	216	0.0046	23	c.96+ others(38): Show c.96+7875_96+7897dupTTTTTTTTTTTTTTTTTTTTTTT	PTPRJ	ENSG00000149177.15	transcript	ENST00000418331.7	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRJ_chr11_47975559_48175839	48053197	A A	ATAAATAT others(16): Show ATAAATATATTATATATAATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0194 a0003c0002t0001g0194	1	216	0.0046	23	c.97- others(40): Show c.97-56836_97-56814dupAAATATATTATATATAATATATT	PTPRJ	ENSG00000149177.15	transcript	ENST00000418331.7	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRR_chr12_70633079_70925738	70821213	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01978.hp2 HG01993.hp2 others(3): Show HG01257.hp2 HG01978.hp2 HG01993.hp2 NA19000.hp2 NA19078.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0130 a0001c0001t0001g0143 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0130 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0167 a0001c0001t0001g0190	6	204	0.0294	23	c.358 others(42): Show c.358-56458_358-56436dupAAAAAAAAAAAAAAAAAAAAAAA	PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	2/13			chr12	TogoVar
PTPRT_chr20_42067756_43194906	42086753	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0006 a0002c0011t0006	a0002c0011t0006g0003 a0002c0011t0006g0003	1	62	0.0161	23	c.384 others(40): Show c.3847-901_3847-900insATATATATATATATATATATTTT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	27/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42569079	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0031	1	62	0.0161	23	c.115 others(44): Show c.1154-96518_1154-96517insATATATATATATATATATATATA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42624005	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01109.hp2 HG01243.hp1	a0001 a0004 a0001 a0004	a0001c0008 a0004c0020 a0001c0008 a0004c0020	a0001c0008t0001 a0004c0020t0016 a0001c0008t0001 a0004c0020t0016	a0001c0008t0001g0060 a0004c0020t0016g0029 a0001c0008t0001g0060 a0004c0020t0016g0029	2	62	0.0323	23	c.115 others(44): Show c.1153+53860_1153+53861insTTTTTTTTTTTTTTTTTTTTTTT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PUM1_chr1_30926506_31070717	30972447	G G	GGGAGGGG others(16): Show GGGAGGGGAGGGGAGGGGAGAAGA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18954.hp2 HG02027.hp1 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0287 a0001c0002t0004g0314 a0001c0002t0004g0287 a0001c0002t0004g0314	2	334	0.0060	23	c.150 others(42): Show c.1506+2203_1506+2204insTCTTCTCCCCTCCCCTCCCCTCC	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30972447	G G	GGGAGGGG others(16): Show GGGAGGGGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0229 a0001c0002t0004g0229	1	334	0.0030	23	c.150 others(42): Show c.1506+2203_1506+2204insTCCCCTCCCCTCCCCTCCCCTCC	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0248 a0001c0002t0001g0248	1	334	0.0030	23	c.364 others(42): Show c.364-10121_364-10120insATATATATATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	334	0.0030	23	c.364 others(42): Show c.364-10121_364-10120insAAAAAAATATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18957.hp2 HG03471.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0133 a0001c0001t0002g0043 a0001c0001t0001g0133 a0001c0001t0002g0043	2	334	0.0060	23	c.364 others(42): Show c.364-10121_364-10120insAAAAAAAAAAATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19070.hp2 HG02257.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0065 a0001c0001t0005g0120 a0001c0001t0001g0065 a0001c0001t0005g0120	2	334	0.0060	23	c.364 others(42): Show c.364-10121_364-10120insAAAAAAAAAAAAAAATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(16): Show ATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG01109.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0035 a0001c0001t0016g0129 a0001c0001t0001g0035 a0001c0001t0016g0129	2	334	0.0060	23	c.364 others(42): Show c.364-10121_364-10120insAAAAAAAAAAAAAAAAATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM2_chr2_20243737_20355844	20264367	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	358	0.0028	23	c.195 others(40): Show c.1958-908_1958-907insATATATATATATATATATTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20264367	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0349 a0001c0001t0010g0349	1	358	0.0028	23	c.195 others(40): Show c.1958-908_1958-907insATATATATATATATATATATATT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20274957	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(19): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00621.hp1 HG00738.hp2 HG01069.hp2 HG01099.hp1 HG01109.hp2 HG01346.hp1 HG01346.hp2 HG01975.hp1 HG01978.hp2 HG03654.hp2 HG03834.hp2 HG04228.hp1 NA18943.hp2 NA18952.hp2 NA18972.hp1 NA18974.hp2 NA19000.hp1 NA19090.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0001 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0020 a0001c0001t0001g0092 a0001c0001t0001g0101 others(19): Show a0001c0001t0001g0020 a0001c0001t0001g0092 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0130 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0001t0001g0235 a0001c0001t0001g0251 a0001c0001t0001g0266 a0001c0001t0003g0197 a0001c0001t0003g0201 a0001c0001t0003g0206 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0010g0350	22	358	0.0615	23	c.195 others(42): Show c.1957+3625_1957+3626insTTTTTTTTTTTTTTTTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar

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