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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

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	cds cds pos length	aa aa pos length	distance	status	chr	external
PTPRG_chr3_61556571_62302609	61979547	GTGACTTT others(10): Show GTGACTTTTATGACTAGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00735.hp1 others(44): Show HG00099.hp2 HG00280.hp2 HG00735.hp1 HG01071.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG02027.hp1 HG02040.hp2 HG02109.hp1 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03471.hp2 HG03669.hp1 HG03831.hp1 HG03831.hp2 HG04199.hp2 NA18522.hp1 NA18998.hp1 NA19030.hp2 NA19087.hp1 NA19240.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009	a0001c0001 a0001c0005 a0001c0008 others(9): Show a0001c0001 a0001c0005 a0001c0008 a0001c0015 a0001c0016 a0002c0002 a0002c0003 a0003c0004 a0004c0006 a0006c0007 a0008c0017 a0009c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0005t0001 a0001c0005t0017 a0001c0008t0005 a0001c0015t0001 a0001c0016t0001 a0002c0002t0001 a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0008 a0002c0003t0014 a0003c0004t0001 a0003c0004t0003 a0003c0004t0013 a0004c0006t0001 a0004c0006t0002 a0006c0007t0004 a0008c0017t0002 a0009c0018t0006	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0033 others(44): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0002g0010 a0001c0001t0002g0047 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0089 a0001c0001t0003g0024 a0001c0001t0004g0028 a0001c0001t0006g0036 a0001c0001t0007g0083 a0001c0001t0007g0084 a0001c0001t0016g0029 a0001c0005t0001g0014 a0001c0005t0001g0040 a0001c0005t0017g0038 a0001c0008t0005g0068 a0001c0015t0001g0011 a0001c0016t0001g0059 a0002c0002t0001g0064 a0002c0002t0002g0046 a0002c0002t0002g0051 a0002c0002t0002g0078 a0002c0002t0002g0092 a0002c0003t0001g0017 a0002c0003t0001g0067 a0002c0003t0002g0061 a0002c0003t0002g0075 a0002c0003t0008g0016 a0002c0003t0008g0019 a0002c0003t0014g0007 a0003c0004t0001g0002 a0003c0004t0001g0048 a0003c0004t0003g0008 a0003c0004t0013g0054 a0004c0006t0001g0027 a0004c0006t0002g0094 a0006c0007t0004g0060 a0008c0017t0002g0013 a0009c0018t0006g0039	47	94	0.5000	-17	c.191 others(36): Show c.191-10077_191-10061delTGACTTTTATGACTAGT		PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29					chr3	TogoVar
PTPRJ_chr11_47975559_48175839	48021404	TAAATAAA others(10): Show TAAATAAATAAATAAATA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02965.hp1 HG03041.hp1 others(3): Show HG02809.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp1 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0006 a0001c0003 a0001c0005 a0001c0006	a0001c0003t0004 a0001c0005t0055 a0001c0006t0037 others(1): Show a0001c0003t0004 a0001c0005t0055 a0001c0006t0037 a0001c0006t0038	a0001c0003t0004g0001 a0001c0005t0055g0002 a0001c0006t0037g0215 others(3): Show a0001c0003t0004g0001 a0001c0005t0055g0002 a0001c0006t0037g0215 a0001c0006t0037g0216 a0001c0006t0038g0213 a0001c0006t0038g0214	6	216	0.0278	-17	c.96+ others(34): Show c.96+40404_96+40420delTAAATAAATAAAATAAA		PTPRJ	ENSG00000149177.15	transcript	ENST00000418331.7	protein_coding	1/24				INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRJ_chr11_47975559_48175839	48156575	GGTTTTTT others(10): Show GGTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp2 HG02055.hp1 others(9): Show HG00438.hp1 HG00741.hp2 HG02055.hp1 HG02486.hp2 HG02723.hp2 HG02738.hp1 HG03130.hp2 HG03453.hp2 NA18906.hp1 NA18947.hp1 NA18972.hp2 NA19030.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0003 a0001c0004 a0002c0001 others(2): Show a0001c0003 a0001c0004 a0002c0001 a0003c0002 a0004c0007	a0001c0003t0013 a0001c0003t0018 a0001c0004t0012 others(7): Show a0001c0003t0013 a0001c0003t0018 a0001c0004t0012 a0001c0004t0017 a0001c0004t0023 a0001c0004t0034 a0002c0001t0004 a0002c0001t0007 a0003c0002t0001 a0004c0007t0021	a0001c0003t0013g0095 a0001c0003t0018g0109 a0001c0004t0012g0044 others(9): Show a0001c0003t0013g0095 a0001c0003t0018g0109 a0001c0004t0012g0044 a0001c0004t0012g0046 a0001c0004t0017g0067 a0001c0004t0023g0033 a0001c0004t0034g0034 a0002c0001t0004g0052 a0002c0001t0007g0188 a0003c0002t0001g0180 a0003c0002t0001g0196 a0004c0007t0021g0137	12	216	0.0556	-17	c.343 others(34): Show c.3438+457_3438+473delGTTTTTTTTTTTTTTTT		PTPRJ	ENSG00000149177.15	transcript	ENST00000418331.7	protein_coding	21/24					chr11	TogoVar
PTPRK_chr6_127963785_128525599	128330868	AAAAACAA others(10): Show AAAAACAAAAACAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0029 a0001c0003t0002g0029	1	53	0.0189	-17	c.224 others(34): Show c.224-8575_224-8559delGTTTTTGTTTTTGTTTT		PTPRK	ENSG00000152894.15	transcript	ENST00000368226.9	protein_coding	2/29					chr6	TogoVar
PTPRO_chr12_15317508_15603331	15445669	TTACTTTT others(10): Show TTACTTTTATTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG00673.hp1 others(6): Show HG00423.hp2 HG00621.hp2 HG00673.hp1 HG02132.hp2 NA18942.hp2 NA18946.hp1 NA18962.hp2 NA18981.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0001c0009	a0001c0001t0001 a0001c0003t0001 a0001c0006t0004 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0004 a0001c0009t0001	a0001c0001t0001g0073 a0001c0001t0001g0110 a0001c0001t0001g0113 others(6): Show a0001c0001t0001g0073 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0003t0001g0124 a0001c0003t0001g0150 a0001c0006t0004g0114 a0001c0006t0004g0123 a0001c0009t0001g0153 a0001c0009t0001g0154	9	164	0.0549	-17	c.76- others(34): Show c.76-38302_76-38286delCTTTTATTTATTTTATA		PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding	1/26				INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRQ_chr12_80439235_80685273	80552643	AATTATAT others(10): Show AATTATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03130.hp2 HG06807.hp2 HG03041.hp2 HG03130.hp2 HG06807.hp2	a0005 a0015 a0054 a0005 a0015 a0054	a0005c0004 a0015c0020 a0054c0046 a0005c0004 a0015c0020 a0054c0046	a0005c0004t0005 a0015c0020t0001 a0054c0046t0003 a0005c0004t0005 a0015c0020t0001 a0054c0046t0003	a0005c0004t0005g0091 a0015c0020t0001g0090 a0054c0046t0003g0089 a0005c0004t0005g0091 a0015c0020t0001g0090 a0054c0046t0003g0089	3	178	0.0169	-17	c.428 others(36): Show c.4285+2912_4285+2928delTATATATATATATATAT		PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	25/44				INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRR_chr12_70633079_70925738	70644054	ACAGTACC others(10): Show ACAGTACCTGAAAAAAGG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02055.hp1 HG02602.hp2 others(2): Show HG01978.hp1 HG02055.hp1 HG02602.hp2 HG03540.hp1 NA20752.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0002c0010 a0010c0020 a0002c0002 a0002c0010 a0010c0020	a0002c0002t0002 a0002c0010t0002 a0010c0020t0002 a0002c0002t0002 a0002c0010t0002 a0010c0020t0002	a0002c0002t0002g0032 a0002c0002t0002g0108 a0002c0002t0002g0199 others(2): Show a0002c0002t0002g0032 a0002c0002t0002g0108 a0002c0002t0002g0199 a0002c0010t0002g0040 a0010c0020t0002g0137	5	204	0.0245	-17	c.188 others(36): Show c.1881-4794_1881-4778delCCTTTTTTCAGGTACTG		PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	13/13					chr12	TogoVar
PTPRR_chr12_70633079_70925738	70666935	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0168 a0002c0002t0001g0168	1	204	0.0049	-17	c.149 others(36): Show c.1498-4347_1498-4331delAAAAAAAAAAAAAAAAA		PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	10/13					chr12	TogoVar
PTPRS_chr19_5200508_5345812	5254411	ATTTTATT others(10): Show ATTTTATTGGGGGGTGTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(32): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01192.hp2 HG01255.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG02004.hp1 HG02055.hp2 HG02300.hp1 HG02630.hp2 HG02683.hp2 HG02886.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 NA19079.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 others(6): Show a0001c0001 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0019 a0001c0020 a0001c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0005t0001 a0001c0006t0001 a0001c0006t0007 a0001c0006t0020 a0001c0007t0001 a0001c0008t0039 a0001c0009t0005 a0001c0019t0011 a0001c0020t0001 a0001c0026t0001	a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0060 others(32): Show a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0060 a0001c0001t0001g0080 a0001c0001t0001g0097 a0001c0001t0001g0115 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0252 a0001c0001t0001g0261 a0001c0001t0002g0003 a0001c0001t0002g0086 a0001c0001t0002g0092 a0001c0001t0002g0149 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0249 a0001c0001t0002g0256 a0001c0001t0008g0152 a0001c0005t0001g0155 a0001c0005t0001g0218 a0001c0006t0001g0018 a0001c0006t0007g0014 a0001c0006t0007g0033 a0001c0006t0020g0216 a0001c0007t0001g0120 a0001c0008t0039g0067 a0001c0009t0005g0127 a0001c0019t0011g0017 a0001c0020t0001g0178 a0001c0026t0001g0162	35	276	0.1268	-17	c.718 others(34): Show c.718+1680_718+1696delAACACCCCCCAATAAAA		PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	9/37					chr19	TogoVar
PTPRS_chr19_5200508_5345812	5272595	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01099.hp2 HG01168.hp1 others(11): Show HG00642.hp2 HG01099.hp2 HG01168.hp1 HG02055.hp1 HG02083.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG03017.hp2 HG03098.hp2 HG03491.hp2 HG03492.hp2 HG03688.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0013 a0001c0015 a0001c0021 a0001c0048 a0001c0060 a0002c0050	a0001c0001t0002 a0001c0001t0025 a0001c0002t0003 others(9): Show a0001c0001t0002 a0001c0001t0025 a0001c0002t0003 a0001c0002t0009 a0001c0005t0003 a0001c0008t0006 a0001c0013t0026 a0001c0015t0021 a0001c0021t0011 a0001c0048t0014 a0001c0060t0001 a0002c0050t0001	a0001c0001t0002g0003 a0001c0001t0002g0208 a0001c0001t0002g0246 others(11): Show a0001c0001t0002g0003 a0001c0001t0002g0208 a0001c0001t0002g0246 a0001c0001t0025g0183 a0001c0002t0003g0236 a0001c0002t0009g0264 a0001c0005t0003g0146 a0001c0008t0006g0237 a0001c0013t0026g0072 a0001c0015t0021g0025 a0001c0021t0011g0139 a0001c0048t0014g0056 a0001c0060t0001g0197 a0002c0050t0001g0235	14	276	0.0507	-17	c.379 others(32): Show c.379+830_379+846delTTTTTTTTTTTTTTTTT		PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	4/37					chr19	TogoVar
PTPRS_chr19_5200508_5345812	5302404	TTAAACCA others(10): Show TTAAACCAATTTACTTAA	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0001 a0001c0056t0001	a0001c0056t0001g0275 a0001c0056t0001g0275	1	276	0.0036	-17	c.-94 others(36): Show c.-94-16187_-94-16171delTTAAGTAAATTGGTTTA		PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	1/37					chr19	TogoVar
PTPRT_chr20_42067756_43194906	42363284	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0021 a0001c0022t0021	a0001c0022t0021g0045 a0001c0022t0021g0045	1	62	0.0161	-17	c.156 others(38): Show c.1561-11016_1561-11000delATATATATATATATATA		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	9/30					chr20	TogoVar
PTPRT_chr20_42067756_43194906	42363286	ATATATAT others(10): Show ATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0040 a0001c0002t0003g0040	1	62	0.0161	-17	c.156 others(38): Show c.1561-11018_1561-11002delAAATATATATATATATA		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	9/30					chr20	TogoVar
PTPRT_chr20_42067756_43194906	42363290	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0006 a0002c0011t0006	a0002c0011t0006g0003 a0002c0011t0006g0003	1	62	0.0161	-17	c.156 others(38): Show c.1561-11022_1561-11006delAAAAAAATATATATATA		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	9/30					chr20	TogoVar
PTPRT_chr20_42067756_43194906	42569068	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0024 a0002c0004t0024	a0002c0004t0024g0006 a0002c0004t0024g0006	1	62	0.0161	-17	c.115 others(38): Show c.1154-96523_1154-96507delATATTTTTTTTTTTTTT		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30					chr20	TogoVar
PTPRZ1_chr7_121868161_122067036	122040766	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG04204.hp1 HG01943.hp1 HG04204.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0257 a0003c0003t0003g0168 a0001c0001t0001g0257 a0003c0003t0003g0168	2	312	0.0064	-17	c.563 others(32): Show c.5638-48_5638-32delGTGTGTGTGTGTGTGTT		PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	20/29				INFO_REALIGN_3_PRIME	chr7	TogoVar
PTTG1IP2_chr7_90464639_90518397	90505990	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	384	0.0026	-17	c.51 others(34): Show c.51-7274_*51-7258delAAAAAAAAAAAAAAAAA		PTTG1IP2	ENSG00000251154.2	transcript	ENST00000509356.2	protein_coding	6/6				INFO_REALIGN_3_PRIME	chr7	TogoVar
PTTG1_chr5_160416855_160433739	160423092	AATGCATA others(10): Show AATGCATATTTTTGCCTC	A A	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA19065.hp1 NA18960.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	2	468	0.0043	-17	c.276 others(32): Show c.276+218_276+234delTGCATATTTTTGCCTCA		PTTG1	ENSG00000164611.13	transcript	ENST00000352433.10	protein_coding	3/5				INFO_REALIGN_3_PRIME	chr5	TogoVar
PUDP_chrX_7043920_7153153	7120112	CTGAACTT others(10): Show CTGAACTTTACAACTCAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00558.hp1 others(89): Show HG00099.hp2 HG00323.hp2 HG00558.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01192.hp1 HG01256.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG02015.hp1 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02135.hp1 HG02155.hp2 HG02257.hp2 HG02602.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp2 HG03540.hp1 HG03654.hp1 HG03710.hp1 HG03831.hp2 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18940.hp1 NA18941.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18953.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18975.hp1 NA18982.hp1 NA18987.hp1 NA18988.hp1 NA18990.hp1 NA18991.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19003.hp2 NA19007.hp1 NA19057.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19072.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19087.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20905.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0006 a0004c0010 others(1): Show a0001c0001 a0001c0006 a0004c0010 a0005c0009	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0006t0001 a0004c0010t0010 a0005c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0012 others(82): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0006g0010 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0112 a0001c0001t0006g0113 a0001c0001t0006g0114 a0001c0001t0006g0117 a0001c0001t0006g0118 a0001c0001t0006g0119 a0001c0001t0006g0177 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0006t0001g0011 a0004c0010t0010g0141 a0005c0009t0001g0016	92	260	0.3539	-17	c.62- others(34): Show c.62-14291_62-14275delCTGAGTTGTAAAGTTCA		PUDP	ENSG00000130021.15	transcript	ENST00000381077.10	protein_coding	1/3					chrX	TogoVar
PUM2_chr2_20243737_20355844	20257043	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp2 HG02572.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0174 a0001c0001t0002g0175	2	358	0.0056	-17	c.248 others(34): Show c.2485-890_2485-874delTTTTTTTTTTTTTTTTT		PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	16/20					chr2	TogoVar
PUS7L_chr12_43713992_43763790	43718796	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0054 a0001c0001t0013g0054	1	306	0.0033	-17	c.11 others(30): Show c.11563_*11579delATATATTTTTTTTTTTT		PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding				195		chr12	TogoVar
PUS7L_chr12_43713992_43763790	43718798	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	306	0.0033	-17	c.11 others(30): Show c.11561_*11577delATATATATTTTTTTTTT		PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding				193		chr12	TogoVar
PUS7_chr7_105451503_105527271	105456045	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0335 a0001c0001t0004g0335	1	350	0.0029	-17	c.17 others(28): Show c.1728_*1744delTTTTTTTTTTTTTTTTT		PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding				457		chr7	TogoVar
PUS7_chr7_105451503_105527271	105456063	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	350	0.0029	-17	c.17 others(28): Show c.1710_*1726delATATTTTTTTTTTTTTT		PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding				439		chr7	TogoVar
PUS7_chr7_105451503_105527271	105508871	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	350	0.0029	-17	c.-32 others(32): Show c.-32-344_-32-328delTTTTTTTTTTTTTTTTT		PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15					chr7	TogoVar
PUSL1_chr1_1303597_1316677	1310876	CGGCTCTG others(10): Show CGGCTCTGGGTCACAGGT	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00738.hp1 HG01361.hp2 HG02257.hp1 others(1): Show HG00738.hp1 HG01361.hp2 HG02257.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	4	352	0.0114	-17	c.700 others(27): Show c.700-15_701delGGCTCTGGGTCACAGGT	p.Val others(5): Show p.Val234fs	PUSL1	ENSG00000169972.13	transcript	ENST00000379031.10	protein_coding	7/8	700/912	234/303		INFO_REALIGN_3_PRIME	chr1	TogoVar
PWWP2A_chr5_160086339_160124450	160109767	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0038 a0001c0004t0038	a0001c0004t0038g0331 a0001c0004t0038g0331	1	384	0.0026	-17	c.584 others(34): Show c.584+9021_584+9037delATATATATATTTTTTTT		PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1					chr5	TogoVar
PWWP2A_chr5_160086339_160124450	160112147	GAAAAAAA others(10): Show GAAAAAAAGAAAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02071.hp1 HG02083.hp1 others(15): Show HG00423.hp1 HG02071.hp1 HG02083.hp1 NA18612.hp1 NA18951.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18986.hp1 NA18989.hp2 NA18993.hp2 NA19007.hp1 NA19012.hp1 NA19058.hp2 NA19064.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0027 a0001c0001t0050 others(1): Show a0001c0001t0007 a0001c0001t0027 a0001c0001t0050 a0001c0001t0054	a0001c0001t0007g0002 a0001c0001t0007g0070 a0001c0001t0007g0071 others(14): Show a0001c0001t0007g0002 a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0007g0088 a0001c0001t0007g0089 a0001c0001t0007g0090 a0001c0001t0007g0091 a0001c0001t0007g0092 a0001c0001t0007g0093 a0001c0001t0007g0095 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0007g0132 a0001c0001t0007g0133 a0001c0001t0027g0073 a0001c0001t0050g0072 a0001c0001t0054g0094	18	384	0.0469	-17	c.584 others(34): Show c.584+6641_584+6657delTTCTTTTTTCTTTTTTT		PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1					chr5	TogoVar
PXDNL_chr8_51314577_51814445	51486786	ATATATAT others(10): Show ATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0028 a0028	a0028c0038 a0028c0038	a0028c0038t0002 a0028c0038t0002	a0028c0038t0002g0119 a0028c0038t0002g0119	1	122	0.0082	-17	c.453 others(34): Show c.453-3089_453-3073delAAAAAAAAATATATATA		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	5/22					chr8	TogoVar
PXDNL_chr8_51314577_51814445	51486788	ATATATAT others(10): Show ATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19043.hp2 NA19240.hp2 HG02258.hp1 NA19043.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0039 a0002c0002t0001g0068 a0002c0002t0003g0017 a0002c0002t0001g0039 a0002c0002t0001g0068 a0002c0002t0003g0017	3	122	0.0246	-17	c.453 others(34): Show c.453-3091_453-3075delAAAAAAAAAAATATATA		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	5/22					chr8	TogoVar
PXDNL_chr8_51314577_51814445	51486790	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02257.hp1 HG02451.hp2 others(3): Show HG00741.hp1 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG03098.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0003 a0001c0001t0002 a0002c0002t0001 a0002c0002t0003	a0001c0001t0002g0101 a0002c0002t0001g0028 a0002c0002t0001g0053 others(3): Show a0001c0001t0002g0101 a0002c0002t0001g0028 a0002c0002t0001g0053 a0002c0002t0001g0067 a0002c0002t0001g0071 a0002c0002t0003g0016	6	122	0.0492	-17	c.453 others(34): Show c.453-3093_453-3077delAAAAAAAAAAAAATATA		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	5/22					chr8	TogoVar
PXDNL_chr8_51314577_51814445	51577914	AAAAGAAA others(10): Show AAAAGAAAGAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0056 a0014c0014t0001g0056	1	122	0.0082	-17	c.308 others(36): Show c.308+14696_308+14712delCTTTCTTTTCTTTCTTT		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	3/22					chr8	TogoVar
PXDN_chr2_1626887_1749515	1710556	ACTCTCCA others(10): Show ACTCTCCACCAGCACCCT	A A	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	322	0.0031	-17	c.201 others(36): Show c.201-17439_201-17423delAGGGTGCTGGTGGAGAG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22					chr2	TogoVar
PXDN_chr2_1626887_1749515	1710586	CCTCTCCA others(10): Show CCTCTCCACCAGCACCCA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp2 HG00741.hp2 others(12): Show HG00323.hp1 HG00733.hp2 HG00741.hp2 HG01081.hp1 HG01167.hp2 HG01175.hp2 HG01516.hp1 HG02602.hp2 HG02886.hp1 HG02976.hp1 HG03239.hp2 HG03486.hp1 HG03834.hp2 HG04228.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0012 a0005c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0012 a0001c0004t0004 a0001c0012t0016 a0005c0041t0002	a0001c0001t0001g0170 a0001c0001t0002g0031 a0001c0001t0002g0067 others(12): Show a0001c0001t0001g0170 a0001c0001t0002g0031 a0001c0001t0002g0067 a0001c0001t0002g0140 a0001c0001t0002g0171 a0001c0001t0005g0130 a0001c0002t0003g0142 a0001c0003t0001g0035 a0001c0003t0001g0085 a0001c0003t0001g0141 a0001c0003t0002g0124 a0001c0003t0012g0123 a0001c0004t0004g0121 a0001c0012t0016g0122 a0005c0041t0002g0133	15	322	0.0466	-17	c.201 others(36): Show c.201-17469_201-17453delTGGGTGCTGGTGGAGAG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22					chr2	TogoVar
PXDN_chr2_1626887_1749515	1710759	CCACTCCA others(10): Show CCACTCCACCAGCACCCA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	322	0.0031	-17	c.201 others(36): Show c.201-17642_201-17626delTGGGTGCTGGTGGAGTG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22					chr2	TogoVar
PXDN_chr2_1626887_1749515	1710869	CACTCTCC others(10): Show CACTCTCCACCAGCACCT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02976.hp2 HG03098.hp1 others(1): Show HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03209.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0022 a0001c0032 others(1): Show a0001c0001 a0001c0022 a0001c0032 a0003c0018	a0001c0001t0019 a0001c0022t0014 a0001c0032t0028 others(1): Show a0001c0001t0019 a0001c0022t0014 a0001c0032t0028 a0003c0018t0005	a0001c0001t0019g0242 a0001c0022t0014g0047 a0001c0032t0028g0046 others(1): Show a0001c0001t0019g0242 a0001c0022t0014g0047 a0001c0032t0028g0046 a0003c0018t0005g0048	4	322	0.0124	-17	c.201 others(36): Show c.201-17752_201-17736delAGGTGCTGGTGGAGAGT		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22					chr2	TogoVar
PXDN_chr2_1626887_1749515	1710996	ACTCCACC others(10): Show ACTCCACCAGCACCCACT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(81): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00738.hp2 HG01099.hp1 HG01255.hp2 HG01361.hp1 HG01515.hp2 HG01928.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02135.hp2 HG02148.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03209.hp1 HG03239.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18952.hp2 NA18955.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18991.hp1 NA18997.hp1 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19012.hp2 NA19056.hp1 NA19074.hp1 NA19079.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA20805.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0013	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0014 a0001c0016 a0001c0022 a0001c0026 a0001c0032 a0001c0033 a0001c0040 a0003c0018 a0007c0043 a0013c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0031 a0001c0001t0033 a0001c0002t0003 a0001c0002t0032 a0001c0003t0001 a0001c0003t0002 a0001c0003t0012 a0001c0004t0004 a0001c0006t0008 a0001c0008t0002 a0001c0014t0013 a0001c0016t0005 a0001c0022t0014 a0001c0026t0001 a0001c0032t0028 a0001c0033t0001 a0001c0040t0030 a0003c0018t0005 a0007c0043t0006 a0013c0021t0002	a0001c0001t0001g0034 a0001c0001t0001g0173 a0001c0001t0001g0179 others(81): Show a0001c0001t0001g0034 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0222 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0292 a0001c0001t0001g0299 a0001c0001t0001g0313 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0192 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0213 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0228 a0001c0001t0002g0249 a0001c0001t0002g0262 a0001c0001t0002g0288 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0003g0180 a0001c0001t0003g0196 a0001c0001t0005g0175 a0001c0001t0009g0178 a0001c0001t0009g0181 a0001c0001t0015g0037 a0001c0001t0015g0316 a0001c0001t0019g0242 a0001c0001t0031g0215 a0001c0001t0033g0185 a0001c0002t0003g0051 a0001c0002t0003g0097 a0001c0002t0003g0183 a0001c0002t0003g0187 a0001c0002t0003g0197 a0001c0002t0003g0217 a0001c0002t0003g0296 a0001c0002t0003g0314 a0001c0002t0032g0289 a0001c0003t0001g0283 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0002g0012 a0001c0003t0002g0033 a0001c0003t0002g0317 a0001c0003t0012g0255 a0001c0004t0004g0306 a0001c0004t0004g0311 a0001c0006t0008g0315 a0001c0008t0002g0298 a0001c0014t0013g0145 a0001c0016t0005g0001 a0001c0022t0014g0047 a0001c0026t0001g0261 a0001c0032t0028g0046 a0001c0033t0001g0216 a0001c0040t0030g0088 a0003c0018t0005g0048 a0007c0043t0006g0062 a0013c0021t0002g0251	84	322	0.2609	-17	c.201 others(36): Show c.201-17879_201-17863delAGTGGGTGCTGGTGGAG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22					chr2	TogoVar
PXDN_chr2_1626887_1749515	1711327	CCGCTCCA others(10): Show CCGCTCCACCAGCACCCA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00733.hp2 others(43): Show HG00140.hp2 HG00323.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01515.hp1 HG01516.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02129.hp2 HG02148.hp2 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02523.hp2 HG02602.hp2 HG02886.hp1 HG02976.hp1 HG03209.hp2 HG03239.hp2 HG03486.hp1 HG03831.hp2 HG03834.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA19043.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0014	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0001c0012 a0001c0016 a0001c0019 a0001c0046 a0005c0041 a0006c0047 a0014c0048	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0022 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0012 a0001c0004t0004 a0001c0010t0008 a0001c0012t0016 a0001c0016t0007 a0001c0019t0009 a0001c0046t0003 a0005c0041t0002 a0006c0047t0001 a0014c0048t0001	a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 others(43): Show a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0147 a0001c0001t0001g0170 a0001c0001t0001g0268 a0001c0001t0002g0018 a0001c0001t0002g0031 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0067 a0001c0001t0002g0134 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0171 a0001c0001t0005g0055 a0001c0001t0005g0130 a0001c0001t0005g0132 a0001c0001t0022g0320 a0001c0002t0003g0054 a0001c0002t0003g0056 a0001c0002t0003g0058 a0001c0002t0003g0060 a0001c0002t0003g0142 a0001c0002t0003g0144 a0001c0002t0003g0146 a0001c0002t0003g0148 a0001c0003t0001g0035 a0001c0003t0001g0085 a0001c0003t0001g0141 a0001c0003t0002g0124 a0001c0003t0002g0287 a0001c0003t0012g0123 a0001c0004t0004g0121 a0001c0010t0008g0049 a0001c0012t0016g0122 a0001c0016t0007g0064 a0001c0019t0009g0050 a0001c0046t0003g0011 a0005c0041t0002g0133 a0006c0047t0001g0040 a0014c0048t0001g0322	46	322	0.1429	-17	c.201 others(36): Show c.201-18210_201-18194delTGGGTGCTGGTGGAGCG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22					chr2	TogoVar
PXDN_chr2_1626887_1749515	1711546	CCCACTCT others(10): Show CCCACTCTCCACCAGCAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp1 HG02622.hp1 others(8): Show HG01891.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02896.hp2 HG02970.hp1 HG03098.hp2 HG03486.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0012 a0002c0009	a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 others(5): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0004t0004 a0001c0005t0024 a0001c0006t0004 a0001c0012t0017 a0002c0009t0011	a0001c0001t0004g0302 a0001c0001t0009g0039 a0001c0001t0010g0165 others(8): Show a0001c0001t0004g0302 a0001c0001t0009g0039 a0001c0001t0010g0165 a0001c0001t0010g0166 a0001c0001t0010g0318 a0001c0004t0004g0029 a0001c0004t0004g0209 a0001c0005t0024g0203 a0001c0006t0004g0286 a0001c0012t0017g0167 a0002c0009t0011g0081	11	322	0.0342	-17	c.201 others(36): Show c.201-18429_201-18413delATGCTGGTGGAGAGTGG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22					chr2	TogoVar
PXDN_chr2_1626887_1749515	1711583	ACTCCACC others(10): Show ACTCCACCAGCACCCACT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03942.hp2 HG01243.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0176 a0001c0001t0001g0184	2	322	0.0062	-17	c.201 others(36): Show c.201-18466_201-18450delAGTGGGTGCTGGTGGAG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22					chr2	TogoVar
PXDN_chr2_1626887_1749515	1711647	ACTCCACC others(10): Show ACTCCACCAGCACCCACT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp2 HG01884.hp1 others(25): Show HG01167.hp1 HG01243.hp2 HG01884.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02572.hp1 HG02630.hp1 HG02723.hp1 HG02895.hp1 HG02895.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp2 HG03942.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0028 a0001c0037 a0002c0009 a0003c0018 a0003c0042	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0003t0002 a0001c0004t0004 a0001c0005t0004 a0001c0005t0007 a0001c0007t0006 a0001c0007t0029 a0001c0010t0008 a0001c0028t0001 a0001c0037t0006 a0002c0009t0011 a0002c0009t0026 a0003c0018t0034 a0003c0042t0005	a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0218 others(25): Show a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0218 a0001c0001t0001g0281 a0001c0001t0002g0234 a0001c0001t0010g0267 a0001c0003t0002g0235 a0001c0004t0004g0153 a0001c0004t0004g0204 a0001c0005t0004g0247 a0001c0005t0007g0079 a0001c0005t0007g0154 a0001c0005t0007g0155 a0001c0005t0007g0205 a0001c0005t0007g0206 a0001c0007t0006g0233 a0001c0007t0006g0236 a0001c0007t0006g0264 a0001c0007t0006g0321 a0001c0007t0029g0156 a0001c0010t0008g0244 a0001c0028t0001g0150 a0001c0037t0006g0285 a0002c0009t0011g0149 a0002c0009t0011g0220 a0002c0009t0026g0237 a0003c0018t0034g0246 a0003c0042t0005g0219	28	322	0.0870	-17	c.201 others(36): Show c.201-18530_201-18514delAGTGGGTGCTGGTGGAG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22					chr2	TogoVar
PXDN_chr2_1626887_1749515	1743696	AGGAAGGG others(10): Show AGGAAGGGGAGGAGGAGG	A A	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0319 a0001c0008t0002g0319	1	322	0.0031	-17	c.200 others(32): Show c.200+543_200+559delCCTCCTCCTCCCCTTCC		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22					chr2	TogoVar
PXK_chr3_58327892_58431127	58336061	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	300	0.0033	-17	c.102 others(34): Show c.102+2973_102+2989delATATATATATTTTTTTT		PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	1/17				INFO_REALIGN_3_PRIME	chr3	TogoVar
PXMP2_chr12_132682587_132709985	132692748	TTAGTGAG others(10): Show TTAGTGAGCTCCCTTAGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00642.hp1 others(82): Show HG00140.hp2 HG00438.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02293.hp1 HG02523.hp2 HG02683.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG03017.hp2 HG03041.hp2 HG03490.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp2 NA18979.hp2 NA18989.hp2 NA18993.hp1 NA18998.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19067.hp2 NA19080.hp2 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0009 a0001c0002 a0003c0009	a0001c0002t0002 a0001c0002t0006 a0003c0009t0002 a0001c0002t0002 a0001c0002t0006 a0003c0009t0002	a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0006 others(29): Show a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0077 a0001c0002t0002g0153 a0001c0002t0002g0162 a0001c0002t0006g0002 a0003c0009t0002g0062	85	350	0.2429	-17	c.236 others(34): Show c.236+2377_236+2393delGAGCTCCCTTAGCTAGT		PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4				INFO_REALIGN_3_PRIME	chr12	TogoVar
PXMP2_chr12_132682587_132709985	132693138	CAGTTAGT others(10): Show CAGTTAGTGAGCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02717.hp2 HG03453.hp2 HG01109.hp1 HG02717.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0010 a0001c0004t0005g0010	3	350	0.0086	-17	c.237 others(34): Show c.237-2738_237-2722delGAGCTCCCTTAGTTAGT		PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4				INFO_REALIGN_3_PRIME	chr12	TogoVar
PXMP2_chr12_132682587_132709985	132694167	TTAGTGAG others(10): Show TTAGTGAGCTCCCTTAGC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02630.hp1 others(6): Show HG01109.hp1 HG01243.hp1 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1 HG03225.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0005 a0001c0004t0004 a0001c0004t0005	a0001c0004t0004g0027 a0001c0004t0004g0028 a0001c0004t0004g0078 others(2): Show a0001c0004t0004g0027 a0001c0004t0004g0028 a0001c0004t0004g0078 a0001c0004t0004g0079 a0001c0004t0005g0010	9	350	0.0257	-17	c.237 others(34): Show c.237-1712_237-1696delGAGCTCCCTTAGCTAGT		PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4				INFO_REALIGN_3_PRIME	chr12	TogoVar
PYDC1_chr16_31210962_31222135	31221605	TTGGGAGA others(10): Show TTGGGAGAAGGGCATTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	346	0.0029	-17	c.-45 others(28): Show c.-4594_-4578delGCAATGCCCTTCTCCCA		PYDC1	ENSG00000169900.8	transcript	ENST00000302964.4	protein_coding				4471		chr16	TogoVar
PYDC1_chr16_31210962_31222135	31221751	GGGGAGAA others(10): Show GGGGAGAAGGGCATTGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02615.hp1 HG02717.hp1 others(6): Show HG02280.hp2 HG02615.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG03195.hp1 HG03225.hp2 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	9	346	0.0260	-17	c.-47 others(28): Show c.-4740_-4724delAGCAATGCCCTTCTCCC		PYDC1	ENSG00000169900.8	transcript	ENST00000302964.4	protein_coding				4617		chr16	TogoVar
PYGB_chr20_25243085_25303012	25273348	TGCCTGCT others(10): Show TGCCTGCTGTGCGGAGGG	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03130.hp2 others(2): Show HG02896.hp2 HG02897.hp1 HG03130.hp2 HG03471.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 others(2): Show a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117	5	372	0.0134	-17	c.529 others(34): Show c.529-1222_529-1206delGCTGTGCGGAGGGGCCT		PYGB	ENSG00000100994.12	transcript	ENST00000216962.9	protein_coding	4/19				INFO_REALIGN_3_PRIME	chr20	TogoVar
PYGL_chr14_50900217_50949483	50926725	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	390	0.0026	-17	c.529 others(34): Show c.529-2642_529-2626delTTTTTTTTTTTTTTTTT		PYGL	ENSG00000100504.17	transcript	ENST00000216392.8	protein_coding	4/19					chr14	TogoVar

Search by Variant

Search

Search Results (Total: 9132 hits)