Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

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	43157354	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTCT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	272	0.0037	-23	c.272 others(42): Show c.2722-1461_2722-1439delATATATATATTTTTTTTTTTCTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTN_chr7_137222341_137348733	137280691	TAAAAATA others(16): Show TAAAAATACAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02818.hp1 HG03098.hp2 HG01099.hp1 HG02818.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0061 a0001c0001t0001g0137 a0001c0001t0002g0024 a0001c0001t0001g0061 a0001c0001t0001g0137 a0001c0001t0002g0024	3	296	0.0101	-23	c.-1- others(40): Show c.-1-25740_-1-25718delTTTTTTTTTTTTTTTGTATTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTP4A2_chr1_31901421_31943368	31908135	TTATATTA others(16): Show TTATATTATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp2 HG03927.hp1 HG04228.hp1 HG00738.hp2 HG03927.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0179 a0001c0001t0016g0282 a0001c0001t0016g0285 a0001c0001t0016g0179 a0001c0001t0016g0282 a0001c0001t0016g0285	3	354	0.0085	-23	c.69 others(32): Show c.694_*716delTATATATATATATATATAATATA	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6	694		chr1	TogoVar
PTPN12_chr7_77532295_77645069	77641210	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG00738.hp2 others(28): Show HG00408.hp2 HG00609.hp2 HG00738.hp2 HG00741.hp2 HG01099.hp2 HG01109.hp2 HG01243.hp2 HG01891.hp2 HG02004.hp1 HG02132.hp2 HG02293.hp2 HG02717.hp2 HG02735.hp2 HG02922.hp1 HG02965.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03669.hp2 NA18955.hp1 NA18962.hp2 NA18984.hp2 NA18993.hp2 NA19007.hp1 NA19068.hp1 NA19082.hp1 NA19087.hp1 NA19088.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0002c0002t0001 a0005c0005t0001 a0001c0001t0001 a0002c0002t0001 a0005c0005t0001	a0001c0001t0001g0175 a0001c0001t0001g0224 a0001c0001t0001g0226 others(28): Show a0001c0001t0001g0175 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0305 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0023 a0002c0002t0001g0031 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0049 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0062 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0090 a0002c0002t0001g0094 a0002c0002t0001g0099 a0002c0002t0001g0124 a0002c0002t0001g0229 a0005c0005t0001g0051	31	310	0.1000	-23	c.19 others(34): Show c.1931_*1953delTTTTTTTTTTTTTTTTTTTTTTT	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		1142		chr7	TogoVar
PTPN21_chr14_88460778_88560007	88517724	ATATATAC others(16): Show ATATATACTATATATACACGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02109.hp2 others(33): Show HG01243.hp1 HG02055.hp2 HG02109.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp1 NA18522.hp2 NA18953.hp2 NA18960.hp2 NA18970.hp1 NA19066.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0010 a0013	a0001c0001 a0002c0002 a0002c0004 others(7): Show a0001c0001 a0002c0002 a0002c0004 a0002c0008 a0003c0003 a0004c0005 a0004c0009 a0006c0007 a0010c0019 a0013c0022	a0001c0001t0028 a0002c0002t0006 a0002c0002t0009 others(12): Show a0001c0001t0028 a0002c0002t0006 a0002c0002t0009 a0002c0002t0029 a0002c0004t0006 a0002c0008t0006 a0003c0003t0006 a0003c0003t0019 a0003c0003t0024 a0003c0003t0025 a0004c0005t0007 a0004c0009t0018 a0006c0007t0013 a0010c0019t0006 a0013c0022t0027	a0001c0001t0028g0098 a0002c0002t0006g0079 a0002c0002t0009g0074 others(32): Show a0001c0001t0028g0098 a0002c0002t0006g0079 a0002c0002t0009g0074 a0002c0002t0009g0075 a0002c0002t0009g0078 a0002c0002t0029g0093 a0002c0004t0006g0080 a0002c0004t0006g0082 a0002c0004t0006g0083 a0002c0004t0006g0084 a0002c0004t0006g0085 a0002c0004t0006g0086 a0002c0004t0006g0087 a0002c0004t0006g0088 a0002c0004t0006g0089 a0002c0008t0006g0090 a0002c0008t0006g0091 a0002c0008t0006g0092 a0003c0003t0006g0094 a0003c0003t0006g0095 a0003c0003t0006g0096 a0003c0003t0006g0097 a0003c0003t0006g0099 a0003c0003t0019g0100 a0003c0003t0019g0101 a0003c0003t0024g0009 a0003c0003t0025g0008 a0004c0005t0007g0033 a0004c0005t0007g0034 a0004c0009t0018g0023 a0004c0009t0018g0024 a0006c0007t0013g0002 a0006c0007t0013g0025 a0010c0019t0006g0081 a0013c0022t0027g0030	36	348	0.1035	-23	c.181 others(38): Show c.181-486_181-464delCACACGTGTATATATAGTATATA	PTPN21	ENSG00000070778.13	transcript	ENST00000556564.6	protein_coding	2/18			chr14	TogoVar
PTPN2_chr18_12787152_12889237	12884374	GGGGGGCG others(16): Show GGGGGGCGGGGCTCGGGGTGCCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0146 a0001c0001t0004g0146	1	370	0.0027	-23	c.-25 others(32): Show c.-256_-234delTGGGCACCCCGAGCCCCGCCCCC	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding		138		chr18	TogoVar
PTPN9_chr15_75458251_75584315	75530715	ATAATATA others(16): Show ATAATATATATAATATATATTATT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02165.hp1 HG02895.hp2 others(23): Show HG01261.hp1 HG02165.hp1 HG02895.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp2 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18979.hp1 NA18989.hp1 NA18991.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19007.hp2 NA19011.hp2 NA19064.hp1 NA19070.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0018	a0001c0001t0001g0043 a0001c0001t0003g0008 a0001c0001t0003g0013 others(23): Show a0001c0001t0001g0043 a0001c0001t0003g0008 a0001c0001t0003g0013 a0001c0001t0003g0026 a0001c0001t0005g0040 a0001c0001t0005g0099 a0001c0001t0005g0102 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0108 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0112 a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0005g0115 a0001c0001t0005g0116 a0001c0001t0005g0117 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0018g0118	26	326	0.0798	-23	c.64- others(38): Show c.64-3477_64-3455delAATAATATATATTATATATATTA	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPRC_chr1_198634040_198762476	198700550	GCCCTCAC others(16): Show GCCCTCACCTTCCTCATTCCATCT	G G	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0012 a0012c0012t0012	a0012c0012t0012g0214 a0012c0012t0012g0214	1	296	0.0034	-23	c.439 others(38): Show c.439+847_439+869delCCCTCACCTTCCTCATTCCATCT	PTPRC	ENSG00000081237.21	transcript	ENST00000442510.8	protein_coding	5/32			chr1	TogoVar
PTPRD_chr9_8309246_10618002	8726589	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0023 a0001c0001t0019g0023	1	34	0.0294	-23	c.64+ others(38): Show c.64+7168_64+7190delATATATATATATATATATATATA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	12/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9154397	CTGGTGTA others(16): Show CTGGTGTAGGCTCTCTTTCTGGCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02622.hp1 HG03225.hp1 others(2): Show HG02055.hp2 HG02622.hp1 HG03225.hp1 HG03579.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0017 a0001c0001 a0001c0002 a0001c0017	a0001c0001t0013 a0001c0001t0022 a0001c0001t0024 others(2): Show a0001c0001t0013 a0001c0001t0022 a0001c0001t0024 a0001c0002t0009 a0001c0017t0002	a0001c0001t0013g0022 a0001c0001t0022g0012 a0001c0001t0024g0032 others(2): Show a0001c0001t0013g0022 a0001c0001t0022g0012 a0001c0001t0024g0032 a0001c0002t0009g0017 a0001c0017t0002g0005	5	34	0.1471	-23	c.-14 others(44): Show c.-143+28884_-143+28906delAGCCAGAAAGAGAGCCTACACCA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	10/45			chr9	TogoVar
PTPRG_chr3_61556571_62302609	61823547	AAATGTGT others(16): Show AAATGTGTTATGCATTTTGGGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00735.hp2 others(19): Show HG00099.hp2 HG00280.hp2 HG00735.hp2 HG01071.hp1 HG01255.hp1 HG02027.hp2 HG02040.hp1 HG02258.hp1 HG02300.hp2 HG02698.hp2 HG02896.hp1 HG02976.hp1 HG03017.hp1 HG03239.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp2 HG04199.hp2 NA18998.hp2 NA19087.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0019 a0002c0002 others(3): Show a0001c0001 a0001c0019 a0002c0002 a0002c0003 a0003c0004 a0003c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0019t0001 a0002c0002t0002 a0002c0003t0002 a0002c0003t0008 a0003c0004t0007 a0003c0012t0012	a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0034 others(19): Show a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0057 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0002g0062 a0001c0001t0002g0086 a0001c0001t0003g0024 a0001c0001t0016g0029 a0001c0019t0001g0069 a0002c0002t0002g0046 a0002c0002t0002g0051 a0002c0002t0002g0078 a0002c0003t0002g0052 a0002c0003t0002g0075 a0002c0003t0008g0019 a0003c0004t0007g0076 a0003c0012t0012g0049	22	94	0.2340	-23	c.190 others(42): Show c.190+74568_190+74590delTGTGTTATGCATTTTGGGTGTAA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRJ_chr11_47975559_48175839	48092309	AAAAAAAA others(16): Show AAAAAAAAAGAAAAAGAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0115 a0001c0006t0008g0115	1	216	0.0046	-23	c.97- others(40): Show c.97-17745_97-17723delAAAAAGAAAAAGAAAAAAAGAAA	PTPRJ	ENSG00000149177.15	transcript	ENST00000418331.7	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRK_chr6_127963785_128525599	128445197	TATTTATA others(16): Show TATTTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03209.hp1 HG02257.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0004 a0001c0007t0006 a0001c0003t0004 a0001c0007t0006	a0001c0003t0004g0052 a0001c0007t0006g0001 a0001c0003t0004g0052 a0001c0007t0006g0001	2	53	0.0377	-23	c.101 others(42): Show c.101-47532_101-47510delTATATATATATATATATATAAAT	PTPRK	ENSG00000152894.15	transcript	ENST00000368226.9	protein_coding	1/29			chr6	TogoVar
PTPRQ_chr12_80439235_80685273	80552643	AATTATAT others(16): Show AATTATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03471.hp2 HG03540.hp1 HG03041.hp1 HG03471.hp2 HG03540.hp1	a0028 a0031 a0032 a0028 a0031 a0032	a0028c0067 a0031c0072 a0032c0071 a0028c0067 a0031c0072 a0032c0071	a0028c0067t0002 a0031c0072t0002 a0032c0071t0003 a0028c0067t0002 a0031c0072t0002 a0032c0071t0003	a0028c0067t0002g0004 a0031c0072t0002g0132 a0032c0071t0003g0131 a0028c0067t0002g0004 a0031c0072t0002g0132 a0032c0071t0003g0131	3	178	0.0169	-23	c.428 others(42): Show c.4285+2912_4285+2934delTATATATATATATATATATATAT	PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRT_chr20_42067756_43194906	42409481	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02647.hp2 HG02809.hp1 others(4): Show HG01261.hp1 HG02647.hp2 HG02809.hp1 HG02886.hp2 HG02976.hp2 HG03209.hp1 HG03471.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0001c0003 a0001c0008 others(3): Show a0001c0002 a0001c0003 a0001c0008 a0001c0022 a0002c0004 a0006c0019	a0001c0002t0006 a0001c0003t0018 a0001c0008t0005 others(3): Show a0001c0002t0006 a0001c0003t0018 a0001c0008t0005 a0001c0022t0021 a0002c0004t0002 a0006c0019t0008	a0001c0002t0006g0036 a0001c0002t0006g0039 a0001c0003t0018g0046 others(4): Show a0001c0002t0006g0036 a0001c0002t0006g0039 a0001c0003t0018g0046 a0001c0008t0005g0037 a0001c0022t0021g0045 a0002c0004t0002g0001 a0006c0019t0008g0050	7	62	0.1129	-23	c.156 others(44): Show c.1560+38716_1560+38738delTTTTTTTTTTTTTTTTTTTTTTT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	9/30			chr20	TogoVar
PUM1_chr1_30926506_31070717	30972260	AAAGAAAA others(16): Show AAAGAAAAGAAGGGAAGGGAAGGG	A A	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0274 a0001c0002t0004g0274	1	334	0.0030	-23	c.150 others(42): Show c.1506+2368_1506+2390delCCCTTCCCTTCCCTTCTTTTCTT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUS7L_chr12_43713992_43763790	43718796	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0067 a0009c0018t0067	a0009c0018t0067g0210 a0009c0018t0067g0210	1	306	0.0033	-23	c.11 others(36): Show c.11557_*11579delATATATATATATTTTTTTTTTTT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		195		chr12	TogoVar
PXDNL_chr8_51314577_51814445	51577976	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0107 a0003c0003t0002g0107	1	122	0.0082	-23	c.308 others(42): Show c.308+14628_308+14650delCTTTCTTTCTTTCTTTCTTTCTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	3/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51763380	AAAGGGAC others(16): Show AAAGGGACGAAGCCCCAGGCAAGC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG03017.hp2 HG01167.hp1 HG01169.hp1 HG03017.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0016c0010 a0001c0001 a0016c0010	a0001c0001t0002 a0016c0010t0002 a0001c0001t0002 a0016c0010t0002	a0001c0001t0002g0095 a0001c0001t0002g0096 a0016c0010t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0016c0010t0002g0094	3	122	0.0246	-23	c.164 others(42): Show c.164+45778_164+45800delGCTTGCCTGGGGCTTCGTCCCTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PXDN_chr2_1626887_1749515	1703244	GGGGGGCA others(16): Show GGGGGGCAACTCCAGGTGAAGGTA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG01993.hp1 others(13): Show HG01109.hp1 HG01891.hp1 HG01993.hp1 HG02451.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG03486.hp2 HG03516.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0012 a0001c0014 a0001c0039 a0002c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0002t0003 a0001c0004t0004 a0001c0006t0004 a0001c0006t0013 a0001c0012t0017 a0001c0014t0013 a0001c0039t0006 a0002c0009t0011	a0001c0001t0002g0211 a0001c0001t0004g0302 a0001c0001t0009g0039 others(13): Show a0001c0001t0002g0211 a0001c0001t0004g0302 a0001c0001t0009g0039 a0001c0001t0010g0165 a0001c0001t0010g0166 a0001c0001t0010g0208 a0001c0002t0003g0131 a0001c0004t0004g0209 a0001c0004t0004g0312 a0001c0006t0004g0286 a0001c0006t0013g0310 a0001c0012t0017g0167 a0001c0014t0013g0145 a0001c0014t0013g0248 a0001c0039t0006g0045 a0002c0009t0011g0081	16	322	0.0497	-23	c.201 others(42): Show c.201-10133_201-10111delTACCTTCACCTGGAGTTGCCCCC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1703543	GGGGGGGC others(16): Show GGGGGGGCAGCTCCAGGTGAAGGT	G G	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0241	1	322	0.0031	-23	c.201 others(42): Show c.201-10432_201-10410delACCTTCACCTGGAGCTGCCCCCC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1703676	GACAGCTC others(16): Show GACAGCTCCAGGTGAAGCGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02165.hp2 NA18612.hp2 others(11): Show HG00438.hp2 HG02165.hp2 NA18612.hp2 NA18942.hp1 NA18946.hp2 NA18952.hp1 NA18982.hp2 NA18984.hp2 NA19005.hp2 NA19007.hp1 NA19068.hp2 NA19074.hp2 NA19084.hp1 NA19087.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0010c0031	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0008t0002 a0010c0031t0002	a0001c0001t0001g0014 a0001c0001t0001g0125 a0001c0001t0001g0240 others(11): Show a0001c0001t0001g0014 a0001c0001t0001g0125 a0001c0001t0001g0240 a0001c0001t0001g0265 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0002g0277 a0001c0002t0003g0098 a0001c0002t0003g0239 a0001c0008t0002g0202 a0001c0008t0002g0273 a0001c0008t0002g0276 a0001c0008t0002g0319 a0010c0031t0002g0120	14	322	0.0435	-23	c.201 others(42): Show c.201-10565_201-10543delTCCCCCGCTTCACCTGGAGCTGT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXK_chr3_58327892_58431127	58336048	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	300	0.0033	-23	c.102 others(40): Show c.102+2959_102+2981delATATATATATATATATATATATA	PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	1/17			chr3	TogoVar
PXN_chr12_120205447_120270730	120249999	GCTGCCAA others(16): Show GCTGCCAAGTCGTGTCTCTGAGGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0010 a0010	a0010c0027 a0010c0027	a0010c0027t0013 a0010c0027t0013	a0010c0027t0013g0282 a0010c0027t0013g0282	1	324	0.0031	-23	c.13+ others(40): Show c.13+15595_13+15617delTCCTCAGAGACACGACTTGGCAG	PXN	ENSG00000089159.17	transcript	ENST00000637617.2	protein_coding	1/14			chr12	TogoVar
PXN_chr12_120205447_120270730	120265747	GCGCGCGC others(16): Show GCGCGCGCCCGCGCCCGCGCCCGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0091 a0002c0002t0001g0091	1	324	0.0031	-23	c.-14 others(32): Show c.-141_-119delGCGGGCGCGGGCGCGGGCGCGCG	PXN	ENSG00000089159.17	transcript	ENST00000637617.2	protein_coding		18		chr12	TogoVar
PYCARD_chr16_31196486_31207760	31203523	TCTGGGTT others(16): Show TCTGGGTTGTAACAATCACTGTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	354	0.0028	-23	c.-85 others(32): Show c.-856_-834delGAACAGTGATTGTTACAACCCAG	PYCARD	ENSG00000103490.14	transcript	ENST00000247470.10	protein_coding		764		chr16	TogoVar
PYGB_chr20_25243085_25303012	25281873	AGCCTGCA others(16): Show AGCCTGCAGCTGCCGCGGTCACTC	A A	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	372	0.0027	-23	c.140 others(40): Show c.1404-159_1404-137delGCCTGCAGCTGCCGCGGTCACTC	PYGB	ENSG00000100994.12	transcript	ENST00000216962.9	protein_coding	11/19			chr20	TogoVar
PYGO1_chr15_55533884_55593345	55548707	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG01891.hp2 others(37): Show HG00280.hp1 HG00323.hp1 HG01891.hp2 HG02132.hp2 HG02155.hp2 HG02451.hp1 HG02809.hp2 HG03041.hp1 HG03139.hp2 HG03453.hp1 HG03688.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 NA18940.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18956.hp2 NA18959.hp1 NA18966.hp2 NA18967.hp2 NA18977.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18987.hp2 NA19000.hp2 NA19003.hp1 NA19007.hp1 NA19043.hp2 NA19054.hp1 NA19066.hp2 NA19077.hp1 NA19082.hp1 NA19086.hp1 NA19091.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(12): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0022 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0040 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0077 a0001c0007t0031	a0001c0001t0002g0040 a0001c0001t0006g0005 a0001c0001t0006g0021 others(36): Show a0001c0001t0002g0040 a0001c0001t0006g0005 a0001c0001t0006g0021 a0001c0001t0006g0034 a0001c0001t0006g0041 a0001c0001t0006g0047 a0001c0001t0006g0141 a0001c0001t0006g0153 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0158 a0001c0001t0008g0035 a0001c0001t0008g0038 a0001c0001t0008g0039 a0001c0001t0008g0045 a0001c0001t0008g0046 a0001c0001t0008g0054 a0001c0001t0008g0194 a0001c0001t0008g0195 a0001c0001t0008g0285 a0001c0001t0022g0091 a0001c0001t0022g0093 a0001c0001t0022g0366 a0001c0001t0030g0037 a0001c0001t0030g0043 a0001c0001t0031g0116 a0001c0001t0032g0036 a0001c0001t0032g0044 a0001c0001t0033g0152 a0001c0001t0033g0159 a0001c0001t0040g0016 a0001c0001t0058g0092 a0001c0001t0059g0042 a0001c0001t0060g0095 a0001c0001t0061g0027 a0001c0001t0077g0385 a0001c0007t0031g0150	40	412	0.0971	-23	c.135 others(38): Show c.135+180_135+202delTTTTTTTTTTTTTTTTTTTTTTT	PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	2/2			chr15	TogoVar
QSOX1_chr1_180149869_180209030	180208547	GTCATCTG others(16): Show GTCATCTGGCCCCTGCTCACAATC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	388	0.0026	-23	c.11 others(36): Show c.11511_*11533delTCATCTGGCCCCTGCTCACAATC	QSOX1	ENSG00000116260.17	transcript	ENST00000367602.8	protein_coding		4518		chr1	TogoVar
QSOX2_chr9_136201333_136250812	136237032	TGTCCTGT others(16): Show TGTCCTGTGCCACACCTGGTGCCC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0314 a0002c0003t0002g0314	1	392	0.0026	-23	c.328 others(40): Show c.328+8421_328+8443delGGGCACCAGGTGTGGCACAGGAC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136237433	GTCCTGTG others(16): Show GTCCTGTGCCACACCTGGAGCCCA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0043 a0001c0004t0043	a0001c0004t0043g0056 a0001c0004t0043g0056	1	392	0.0026	-23	c.328 others(40): Show c.328+8020_328+8042delTGGGCTCCAGGTGTGGCACAGGA	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136237545	CCACACCT others(16): Show CCACACCTGGAGCCCGTCCTGTGG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02145.hp1 HG02559.hp1 others(7): Show HG00741.hp2 HG02145.hp1 HG02559.hp1 HG02572.hp2 HG02647.hp2 HG02886.hp2 HG02896.hp2 HG03139.hp1 HG03195.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0001t0022 a0001c0001t0028 others(3): Show a0001c0001t0018 a0001c0001t0022 a0001c0001t0028 a0001c0001t0056 a0001c0001t0060 a0001c0002t0018	a0001c0001t0018g0187 a0001c0001t0018g0189 a0001c0001t0018g0272 others(7): Show a0001c0001t0018g0187 a0001c0001t0018g0189 a0001c0001t0018g0272 a0001c0001t0022g0267 a0001c0001t0022g0268 a0001c0001t0028g0269 a0001c0001t0028g0271 a0001c0001t0056g0270 a0001c0001t0060g0188 a0001c0002t0018g0038	10	392	0.0255	-23	c.328 others(40): Show c.328+7908_328+7930delCCACAGGACGGGCTCCAGGTGTG	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
RAB11FIP3_chr16_420649_528011	425692	TCCGGCCT others(16): Show TCCGGCCTCCTCGGCCCCCGTCCC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18984.hp1 NA19077.hp2 NA18984.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0027 a0001c0002t0026 a0001c0001t0027 a0001c0002t0026	a0001c0001t0027g0163 a0001c0002t0026g0170 a0001c0001t0027g0163 a0001c0002t0026g0170	2	295	0.0068	-23	c.-28 others(32): Show c.-288_-266delGCCTCCTCGGCCCCCGTCCCCCG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/14	266	INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP4_chr17_31386675_31543211	31445560	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0261 a0001c0001t0010g0261	1	310	0.0032	-23	c.336 others(42): Show c.336+11440_336+11462delATATATATATATATATATTTTTT	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB11FIP4_chr17_31386675_31543211	31445562	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01884.hp1 HG02622.hp2 others(2): Show HG00408.hp2 HG01884.hp1 HG02622.hp2 NA18984.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0015	a0001c0001t0010 a0001c0001t0012 a0001c0002t0016 others(2): Show a0001c0001t0010 a0001c0001t0012 a0001c0002t0016 a0001c0005t0004 a0001c0015t0002	a0001c0001t0010g0111 a0001c0001t0012g0217 a0001c0002t0016g0006 others(2): Show a0001c0001t0010g0111 a0001c0001t0012g0217 a0001c0002t0016g0006 a0001c0005t0004g0275 a0001c0015t0002g0170	5	310	0.0161	-23	c.336 others(42): Show c.336+11442_336+11464delATATATATATATATATTTTTTTT	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB11FIP4_chr17_31386675_31543211	31445564	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0046 a0001c0001t0007g0046	1	310	0.0032	-23	c.336 others(42): Show c.336+11444_336+11466delATATATATATATATTTTTTTTTT	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB12_chr18_8604437_8644383	8639147	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0087 a0001c0001t0054g0087	1	404	0.0025	-23	c.90 others(32): Show c.908_*930delTTTTTTTTTTTTTTTTTTTTTTT	RAB12	ENSG00000206418.5	transcript	ENST00000649141.2	protein_coding	6/6	908	INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB19_chr7_140399058_140432974	140430963	CTCTCCCT others(16): Show CTCTCCCTCTCCCTCTCCCCACAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG02630.hp2 others(7): Show HG02486.hp1 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02886.hp1 HG03098.hp1 HG03130.hp2 HG03516.hp2 HG03579.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0009 a0001c0001t0023 a0001c0005t0009 a0001c0001t0009 a0001c0001t0023 a0001c0005t0009	a0001c0001t0009g0112 a0001c0001t0009g0144 a0001c0001t0009g0145 others(6): Show a0001c0001t0009g0112 a0001c0001t0009g0144 a0001c0001t0009g0145 a0001c0001t0009g0149 a0001c0001t0023g0136 a0001c0001t0023g0296 a0001c0005t0009g0013 a0001c0005t0009g0093 a0001c0005t0009g0241	10	442	0.0226	-23	c.48 others(34): Show c.4814_*4836delTCTCCCTCTCCCTCTCCCCACAG	RAB19	ENSG00000146955.11	transcript	ENST00000537763.6	protein_coding		2990		chr7	TogoVar
RAB20_chr13_110518066_110566722	110563009	GACCTTCT others(16): Show GACCTTCTGGGGCGTGGAAAGCGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG03225.hp1 others(2): Show HG02145.hp2 HG02257.hp2 HG03225.hp1 HG03225.hp2 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0002c0004t0003 a0002c0005t0001	a0001c0001t0001g0079 a0001c0002t0001g0359 a0001c0003t0001g0263 others(2): Show a0001c0001t0001g0079 a0001c0002t0001g0359 a0001c0003t0001g0263 a0002c0004t0003g0262 a0002c0005t0001g0358	5	426	0.0117	-23	c.-15 others(34): Show c.-1513_-1491delGCGCTTTCCACGCCCCAGAAGGT	RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding		1288		chr13	TogoVar
RAB27A_chr15_55197966_55294813	55208646	ATCTTTCC others(16): Show ATCTTTCCCACAAGTCCCTGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(101): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00741.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01358.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01978.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18948.hp1 NA18953.hp1 NA18961.hp1 NA18966.hp2 NA18973.hp1 NA18975.hp2 NA18982.hp2 NA19004.hp2 NA19009.hp1 NA19043.hp2 NA19064.hp1 NA19076.hp2 NA19090.hp2 NA19240.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0005 others(1): Show a0001c0001 a0001c0002 a0002c0005 a0004c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0002t0002 a0002c0005t0003 a0004c0003t0002	a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0019 others(101): Show a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0033 a0001c0001t0002g0039 a0001c0001t0002g0096 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0146 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0160 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0178 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0205 a0001c0001t0002g0210 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0274 a0001c0001t0002g0281 a0001c0001t0002g0304 a0001c0001t0002g0314 a0001c0001t0003g0028 a0001c0001t0003g0126 a0001c0001t0003g0148 a0001c0001t0003g0195 a0001c0001t0003g0269 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0278 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0303 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0317 a0001c0001t0008g0006 a0001c0001t0008g0007 a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0008g0017 a0001c0001t0010g0005 a0001c0001t0010g0138 a0001c0001t0010g0154 a0001c0001t0010g0155 a0001c0001t0011g0016 a0001c0001t0011g0218 a0001c0001t0011g0220 a0001c0001t0011g0301 a0001c0001t0012g0300 a0001c0001t0012g0302 a0001c0001t0012g0308 a0001c0001t0015g0136 a0001c0001t0015g0277 a0001c0001t0016g0185 a0001c0001t0016g0285 a0001c0001t0027g0219 a0001c0001t0028g0288 a0001c0001t0029g0066 a0001c0001t0030g0318 a0001c0001t0031g0124 a0001c0002t0002g0158 a0001c0002t0002g0227 a0002c0005t0003g0010 a0004c0003t0002g0157	104	320	0.3250	-23	c.468 others(40): Show c.468-2964_468-2942delCTTCCAGGGACTTGTGGGAAAGA	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RAB2A_chr8_60511987_60628644	60530231	CTCTGCCT others(16): Show CTCTGCCTCCTGGTTTCAAGCCGT	C C	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18957.hp2 NA18983.hp2 others(1): Show NA18943.hp1 NA18957.hp2 NA18983.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0018 others(1): Show a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0028	4	358	0.0112	-23	c.46+ others(40): Show c.46+12987_46+13009delCTGGTTTCAAGCCGTTCTGCCTC	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAB2A_chr8_60511987_60628644	60565676	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01069.hp1 HG02258.hp1 others(15): Show HG00673.hp2 HG01069.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02896.hp2 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03540.hp1 HG06807.hp1 NA18612.hp2 NA18984.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0016 others(1): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0016 a0001c0001t0019	a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0005g0283 others(15): Show a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0005g0293 a0001c0001t0005g0298 a0001c0001t0005g0300 a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0001t0005g0308 a0001c0001t0005g0310 a0001c0001t0013g0101 a0001c0001t0016g0289 a0001c0001t0019g0311	18	358	0.0503	-23	c.119 others(40): Show c.119-6340_119-6318delTTTTTTTTTTTTTTTTTTTTTTT	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAB31_chr18_9703301_9867551	9717689	AAGAAGAA others(16): Show AAGAAGAAAGACAGAGAGACACGC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0211 a0001c0001t0007g0211	1	322	0.0031	-23	c.39+ others(38): Show c.39+9247_39+9269delGAAGAAAGACAGAGAGACACGCA	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB39A_chr11_107923448_107968482	107936405	ATCCCACT others(16): Show ATCCCACTGGCTTATCTTCTCTTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(81): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00609.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp2 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01943.hp2 HG01981.hp1 HG02040.hp2 HG02083.hp1 HG02129.hp1 HG02155.hp2 HG02165.hp1 HG02602.hp2 HG02615.hp2 HG02698.hp1 HG02735.hp1 HG02818.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG04115.hp1 HG04199.hp2 NA18950.hp2 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18999.hp1 NA19003.hp2 NA19004.hp1 NA19011.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp2 NA19080.hp2 NA19081.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19091.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0002c0006t0002	a0001c0001t0001g0121 a0001c0001t0001g0147 a0001c0001t0002g0001 others(77): Show a0001c0001t0001g0121 a0001c0001t0001g0147 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0025 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0349 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0005g0137 a0001c0001t0011g0102 a0001c0001t0011g0124 a0001c0001t0011g0125 a0002c0006t0002g0142	84	406	0.2069	-23	c.227 others(40): Show c.227+7622_227+7644delTATCTTCTCTTCTCCCACTGGCT	RAB39A	ENSG00000179331.3	transcript	ENST00000320578.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr11	TogoVar
RAB3C_chr5_58578075_58864394	58797353	AATATGTA others(16): Show AATATGTATATATATAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA21309.hp2 HG02922.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0059 a0001c0001t0043 a0001c0001t0059	a0001c0001t0043g0099 a0001c0001t0059g0216 a0001c0001t0043g0099 a0001c0001t0059g0216	2	220	0.0091	-23	c.372 others(42): Show c.372-27680_372-27658delGTATATATATAATATATATATAT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB4A_chr1_229266111_229310894	229292598	GCAGAGAG others(16): Show GCAGAGAGGAAAAGCTTCAAGCTA	G G	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	400	0.0025	-23	c.228 others(40): Show c.228-3247_228-3225delGAGAGGAAAAGCTTCAAGCTACA	RAB4A	ENSG00000168118.12	transcript	ENST00000366690.5	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB4A_chr1_229266111_229310894	229302274	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	400	0.0025	-23	c.542 others(38): Show c.542-587_542-565delATATATATATATATATATATATA	RAB4A	ENSG00000168118.12	transcript	ENST00000366690.5	protein_coding	6/7			chr1	TogoVar
RAB4A_chr1_229266111_229310894	229302278	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	400	0.0025	-23	c.542 others(38): Show c.542-583_542-561delATATATATATATATATATATATA	RAB4A	ENSG00000168118.12	transcript	ENST00000366690.5	protein_coding	6/7			chr1	TogoVar
RAB4A_chr1_229266111_229310894	229302280	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	400	0.0025	-23	c.542 others(38): Show c.542-581_542-559delATATATATATATATATATATATA	RAB4A	ENSG00000168118.12	transcript	ENST00000366690.5	protein_coding	6/7			chr1	TogoVar
RAB4A_chr1_229266111_229310894	229302286	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	400	0.0025	-23	c.542 others(38): Show c.542-575_542-553delATATATATATATATATATATATA	RAB4A	ENSG00000168118.12	transcript	ENST00000366690.5	protein_coding	6/7			chr1	TogoVar

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