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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PACRG_chr6_162722974_163320500	162875372	TACACAGA others(21): Show TACACAGACATTCACACACAGAAATTCAC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0085 a0001c0001t0017g0085	1	130	0.0077	-28	c.291 others(47): Show c.291+61104_291+61131delACACACAGAAATTCACACACAGACAT TC	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162958868	TATATATA others(21): Show TATATATATATATATATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01257.hp2 HG02257.hp2 others(1): Show HG01255.hp1 HG01257.hp2 HG02257.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0009 a0001c0001t0001 a0001c0001t0002 a0001c0003t0009	a0001c0001t0001g0095 a0001c0001t0002g0058 a0001c0001t0002g0115 others(1): Show a0001c0001t0001g0095 a0001c0001t0002g0058 a0001c0001t0002g0115 a0001c0003t0009g0080	4	130	0.0308	-28	c.292 others(49): Show c.292-103280_292-103253delTATATATATATATATAGAGAGAGA GAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162958870	TATATATA others(21): Show TATATATATATATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp2 HG01943.hp2 HG00323.hp1 HG00741.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0026 a0001c0001t0001g0092 a0001c0001t0008g0069 a0001c0001t0001g0026 a0001c0001t0001g0092 a0001c0001t0008g0069	3	130	0.0231	-28	c.292 others(49): Show c.292-103278_292-103251delTATATATATATATAGAGAGAGAGA GAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162958872	TATATATA others(21): Show TATATATATATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02109.hp2 HG02559.hp2 others(7): Show HG01361.hp2 HG02109.hp2 HG02559.hp2 HG02886.hp1 HG02895.hp1 HG04184.hp2 NA18945.hp2 NA18981.hp2 NA18989.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0003t0003	a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0060 others(7): Show a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0060 a0001c0001t0001g0118 a0001c0001t0002g0003 a0001c0001t0002g0043 a0001c0001t0004g0070 a0001c0001t0004g0077 a0001c0001t0006g0009 a0001c0003t0003g0065	10	130	0.0769	-28	c.292 others(49): Show c.292-103276_292-103249delTATATATATATAGAGAGAGAGAGA GAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162958874	TATATATA others(21): Show TATATATATATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp2 HG01981.hp2 others(2): Show HG01169.hp1 HG01169.hp2 HG01981.hp2 HG02647.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0002g0051 others(2): Show a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0002g0051 a0001c0001t0003g0015 a0001c0001t0005g0071	5	130	0.0385	-28	c.292 others(49): Show c.292-103274_292-103247delTATATATATAGAGAGAGAGAGAGA GAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162958876	TATATATA others(21): Show TATATATATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02809.hp2 HG03453.hp2 HG00323.hp2 HG02809.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0007 a0001c0001t0003g0102 a0001c0001t0007g0125 a0001c0001t0003g0007 a0001c0001t0003g0102 a0001c0001t0007g0125	3	130	0.0231	-28	c.292 others(49): Show c.292-103272_292-103245delTATATATAGAGAGAGAGAGAGAGA GAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162958878	TATATATA others(21): Show TATATATAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03195.hp2 HG02055.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0020 a0001c0001t0003g0120 a0001c0001t0001g0020 a0001c0001t0003g0120	2	130	0.0154	-28	c.292 others(49): Show c.292-103270_292-103243delTATATAGAGAGAGAGAGAGAGAGA GAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163005791	ATGTTATA others(21): Show ATGTTATATATATACAACATAGTTATACG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02572.hp2 others(6): Show HG02257.hp2 HG02451.hp2 HG02572.hp2 HG02647.hp2 HG02723.hp2 HG02896.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0003t0009	a0001c0001t0001g0089 a0001c0001t0001g0117 a0001c0001t0002g0050 others(6): Show a0001c0001t0001g0089 a0001c0001t0001g0117 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0003g0091 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0009g0088 a0001c0003t0009g0080	9	130	0.0692	-28	c.292 others(47): Show c.292-56285_292-56258delATAGTTATACGTGTTATATATATACA AC	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163269931	CAAAGAAA others(21): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	130	0.0077	-28	c.614 others(47): Show c.614-44847_614-44820delAAAGAAAGAAAGAAAGAAAGAAAGAA AG	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACS1_chr11_66065272_66249744	66156204	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02293.hp2 HG01943.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0203 a0001c0001t0001g0069 a0001c0001t0001g0203	2	322	0.0062	-28	c.357 others(47): Show c.357-37259_357-37232delTATATATATATATATATATATATATA TA	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACSIN2_chr22_42864773_43020149	42987469	CACACACA others(21): Show CACACACACACACACACACACACACCCAT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0023 a0001c0005t0023	a0001c0005t0023g0281 a0001c0005t0023g0281	1	294	0.0034	-28	c.-78 others(47): Show c.-78+27524_-78+27551delATGGGTGTGTGTGTGTGTGTGTGTGT GT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172348	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 NA19240.hp2 HG02723.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0010 a0001c0001t0008g0030 a0001c0001t0008g0010 a0001c0001t0008g0030	2	432	0.0046	-28	c.46 others(39): Show c.4650_*4677delTATATATATATATATATATATATATATA	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1304		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172378	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	432	0.0023	-28	c.46 others(39): Show c.4680_*4707delTATATATATATATATATATATATATATT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1334		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172382	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	432	0.0023	-28	c.46 others(39): Show c.4684_*4711delTATATATATATATATATATATATTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1338		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172392	ATATATAT others(21): Show ATATATATATATATTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0128 a0001c0001t0092g0128	1	432	0.0023	-28	c.46 others(39): Show c.4694_*4721delTATATATATATATTTTTTTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1348		chr11	TogoVar
PAH_chr12_102831889_102922244	102871931	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18982.hp2 NA19005.hp2 others(1): Show NA18954.hp2 NA18982.hp2 NA19005.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0124 others(1): Show a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0124 a0001c0002t0001g0126	4	312	0.0128	-28	c.442 others(45): Show c.442-5296_442-5269delATATATATATTTTTTTTTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102871933	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG00609.hp2 others(45): Show HG00140.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG00738.hp2 HG01255.hp1 HG01257.hp1 HG01346.hp2 HG01516.hp1 HG01928.hp2 HG01952.hp2 HG01993.hp1 HG02040.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02273.hp2 HG02698.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG04199.hp1 NA18747.hp2 NA18939.hp1 NA18944.hp2 NA18957.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18970.hp2 NA18977.hp1 NA18983.hp1 NA18993.hp1 NA19005.hp1 NA19007.hp1 NA19054.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19076.hp2 NA19077.hp1 NA19090.hp2 NA19091.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0015 a0001c0002t0019 others(2): Show a0001c0002t0001 a0001c0002t0015 a0001c0002t0019 a0001c0002t0021 a0001c0002t0022	a0001c0002t0001g0003 a0001c0002t0001g0021 a0001c0002t0001g0027 others(44): Show a0001c0002t0001g0003 a0001c0002t0001g0021 a0001c0002t0001g0027 a0001c0002t0001g0029 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0051 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0066 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0108 a0001c0002t0001g0114 a0001c0002t0001g0119 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0160 a0001c0002t0001g0181 a0001c0002t0015g0007 a0001c0002t0019g0035 a0001c0002t0021g0083 a0001c0002t0022g0025	48	312	0.1539	-28	c.442 others(45): Show c.442-5298_442-5271delATATATATATATTTTTTTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102871935	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01167.hp1 HG01169.hp1 others(8): Show HG00408.hp1 HG01167.hp1 HG01169.hp1 HG02132.hp2 HG02165.hp1 NA18944.hp1 NA18966.hp1 NA18977.hp2 NA19065.hp1 NA19089.hp1 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0001 a0001c0002t0020 a0001c0010t0001 a0001c0002t0001 a0001c0002t0020 a0001c0010t0001	a0001c0002t0001g0038 a0001c0002t0001g0058 a0001c0002t0001g0059 others(7): Show a0001c0002t0001g0038 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0080 a0001c0002t0001g0109 a0001c0002t0001g0113 a0001c0002t0001g0122 a0001c0002t0020g0078 a0001c0010t0001g0001	11	312	0.0353	-28	c.442 others(45): Show c.442-5300_442-5273delATATATATATATATTTTTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102871937	AAAAAAAA others(21): Show AAAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0231 a0001c0002t0003g0231	1	312	0.0032	-28	c.442 others(45): Show c.442-5302_442-5275delATATATATATATATATTTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102871939	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03486.hp2 HG03471.hp1 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0103 a0001c0004t0001g0143 a0001c0004t0001g0103 a0001c0004t0001g0143	2	312	0.0064	-28	c.442 others(45): Show c.442-5304_442-5277delATATATATATATATATATTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PALB2_chr16_23598165_23646310	23645083	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	326	0.0031	-28	c.-39 others(39): Show c.-3954_-3927delTATATATATATATATATATATATATATA	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		3774		chr16	TogoVar
PALLD_chr4_168492052_168933441	168542717	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02040.hp1 HG02257.hp2 others(8): Show HG01167.hp1 HG02040.hp1 HG02257.hp2 HG02602.hp2 HG02683.hp1 HG03491.hp2 HG03516.hp1 HG03942.hp2 NA18989.hp1 NA19068.hp1 NA19074.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0021 a0003c0005 a0006c0020	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0002t0003 a0001c0002t0009 a0001c0002t0010 a0001c0004t0002 a0001c0021t0002 a0003c0005t0008 a0006c0020t0001	a0001c0001t0001g0068 a0001c0001t0001g0078 a0001c0001t0005g0140 others(8): Show a0001c0001t0001g0068 a0001c0001t0001g0078 a0001c0001t0005g0140 a0001c0001t0006g0095 a0001c0002t0003g0075 a0001c0002t0009g0137 a0001c0002t0010g0106 a0001c0004t0002g0108 a0001c0021t0002g0153 a0003c0005t0008g0005 a0006c0020t0001g0024	11	156	0.0705	-28	c.908 others(47): Show c.908+30324_908+30351delATATATATATATATATATATATATAT AT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168600073	ACACACAC others(21): Show ACACACACATATATACATGCATGTGTATG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01123.hp2 HG02004.hp2 others(21): Show HG00597.hp1 HG01123.hp2 HG02004.hp2 HG02055.hp2 HG02257.hp2 HG02451.hp2 HG02523.hp1 HG02683.hp1 HG03239.hp1 HG03654.hp1 HG03669.hp1 HG04115.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18969.hp2 NA18972.hp1 NA19001.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp2 NA19030.hp1 NA19077.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0019 a0002c0003 a0002c0006 a0002c0007 a0002c0010 a0002c0015 a0004c0014 a0007c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0002t0006 a0001c0002t0009 a0001c0004t0005 a0001c0004t0015 a0001c0019t0006 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0006t0007 a0002c0007t0002 a0002c0007t0005 a0002c0010t0004 a0002c0015t0003 a0004c0014t0001 a0007c0023t0001	a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0077 others(21): Show a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0077 a0001c0001t0002g0112 a0001c0001t0002g0117 a0001c0001t0006g0095 a0001c0001t0011g0122 a0001c0002t0006g0115 a0001c0002t0009g0137 a0001c0004t0005g0116 a0001c0004t0015g0011 a0001c0019t0006g0118 a0002c0003t0001g0028 a0002c0003t0001g0043 a0002c0003t0001g0049 a0002c0003t0002g0142 a0002c0003t0005g0132 a0002c0006t0007g0042 a0002c0007t0002g0139 a0002c0007t0005g0138 a0002c0010t0004g0044 a0002c0015t0003g0058 a0004c0014t0001g0031 a0007c0023t0001g0056	24	156	0.1539	-28	c.909 others(47): Show c.909-68110_909-68083delCATATATACATGCATGTGTATGCACA CA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168709507	CAAGGAAG others(21): Show CAAGGAAGGAAGGAAGGAAGGAAGGAAGG	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA19010.hp1 HG02523.hp2 NA19010.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0013 a0001c0001 a0003c0013	a0001c0001t0002 a0003c0013t0006 a0001c0001t0002 a0003c0013t0006	a0001c0001t0002g0148 a0003c0013t0006g0123 a0001c0001t0002g0148 a0003c0013t0006g0123	2	156	0.0128	-28	c.162 others(45): Show c.1621+417_1621+444delAAGGAAGGAAGGAAGGAAGGAAGGAAGG	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALMD_chr1_99641113_99699535	99683003	CTCCAAAA others(21): Show CTCCAAAAAGAAAGAAGGAAAGAAAGAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0312 a0001c0002t0001g0312	1	380	0.0026	-28	c.252 others(45): Show c.252-3672_252-3645delTCCAAAAAGAAAGAAGGAAAGAAAGAAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7			chr1	TogoVar
PALM_chr19_703935_753329	720356	AGGCGAGG others(21): Show AGGCGAGGGGGCGTCCAGGCCCGGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG02109.hp1 HG01256.hp2 HG01258.hp1 HG02109.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0003 a0002c0001t0001g0003	3	404	0.0074	-28	c.6-5 others(41): Show c.6-5771_6-5744delCGTCCAGGCCCGGGGAGGGGCGAGGGGG	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
PALM_chr19_703935_753329	720565	AGGGGGCG others(21): Show AGGGGGCGCCGGGTCTGGGGAGGGGCGAG	A A	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0182 a0002c0005t0003g0182	1	404	0.0025	-28	c.6-5 others(41): Show c.6-5535_6-5508delGGGTCTGGGGAGGGGCGAGGGGGGCGCC	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
PAM_chr5_102750305_103034716	102780749	CTTTCTCT others(21): Show CTTTCTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	188	0.0053	-28	c.-37 others(49): Show c.-374+25403_-374+25430delTTCTCTTTCTTTCTTTCTTTCTTT CTTT	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102780753	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0137	1	188	0.0053	-28	c.-37 others(49): Show c.-374+25461_-374+25488delTTCTTTCTTTCTTTCTTTCTTTCT TTCT	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102882052	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18957.hp2 HG02258.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0032 a0001c0002t0004g0095 a0001c0001t0001g0032 a0001c0002t0004g0095	2	188	0.0106	-28	c.210 others(47): Show c.210+14691_210+14718delTATATATATATATATATATATATATA TA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PANK4_chr1_2503537_2531596	2519389	AGGAGGGG others(21): Show AGGAGGGGAGGGGGAGAGAGAGCTGAGTG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03139.hp1 HG03490.hp2 others(3): Show HG02723.hp2 HG03139.hp1 HG03490.hp2 HG03492.hp2 HG03710.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0009 a0001c0008 a0002c0009	a0001c0008t0001 a0002c0009t0001 a0001c0008t0001 a0002c0009t0001	a0001c0008t0001g0020 a0002c0009t0001g0021 a0001c0008t0001g0020 a0002c0009t0001g0021	6	399	0.0150	-28	c.854 others(41): Show c.854-93_854-66delCACTCAGCTCTCTCTCCCCCTCCCCTCC	PANK4	ENSG00000157881.16	transcript	ENST00000378466.9	protein_coding	6/18			chr1	TogoVar
PAPOLA_chr14_96497382_96572116	96572015	AGGAAGAT others(21): Show AGGAAGATAAAAGCAGTAATTTGCAATAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	310	0.0032	-28	c.69 others(39): Show c.6966_*6993delGGAAGATAAAAGCAGTAATTTGCAATAG	PAPOLA	ENSG00000090060.19	transcript	ENST00000216277.13	protein_coding		4900		chr14	TogoVar
PAPPA2_chr1_176458175_176850601	176634947	GTAGATAG others(21): Show GTAGATAGATAGATAGATAAATAGATAGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03130.hp1 NA19240.hp2 HG02622.hp2 HG03130.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0020 a0001c0001t0018 a0001c0001t0020	a0001c0001t0018g0002 a0001c0001t0018g0024 a0001c0001t0020g0012 a0001c0001t0018g0002 a0001c0001t0018g0024 a0001c0001t0020g0012	3	118	0.0254	-28	c.199 others(49): Show c.1992-36004_1992-35977delAATAGATAGATAGATAGATAGATA GATA	PAPPA2	ENSG00000116183.11	transcript	ENST00000367662.5	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAPPA2_chr1_176458175_176850601	176816152	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0084 a0001c0001t0007g0084	1	118	0.0085	-28	c.520 others(49): Show c.5202+16038_5202+16065delATATATATATATATATATATATAT ATAT	PAPPA2	ENSG00000116183.11	transcript	ENST00000367662.5	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAPSS2_chr10_87654878_87752705	87701319	CCTTCCTT others(21): Show CCTTCCTTCCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02056.hp1 HG02257.hp2 others(6): Show HG01109.hp2 HG02056.hp1 HG02257.hp2 HG02976.hp2 HG03491.hp1 HG03516.hp2 HG03831.hp2 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0021 a0001c0001t0023 a0001c0003t0002	a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0002g0181 others(6): Show a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0002g0181 a0001c0001t0004g0168 a0001c0001t0007g0319 a0001c0001t0021g0370 a0001c0001t0021g0372 a0001c0001t0023g0173 a0001c0003t0002g0259	9	372	0.0242	-28	c.28- others(43): Show c.28-7873_28-7846delCCTTCCTTTCTTTCTTTCTTTCTTTCTT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87734663	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01255.hp1 HG01256.hp2 others(5): Show HG00280.hp1 HG01255.hp1 HG01256.hp2 HG01361.hp1 HG02717.hp1 HG03098.hp1 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0038 others(1): Show a0001c0001t0001 a0001c0001t0030 a0001c0001t0038 a0001c0001t0055	a0001c0001t0001g0152 a0001c0001t0001g0231 a0001c0001t0001g0245 others(5): Show a0001c0001t0001g0152 a0001c0001t0001g0231 a0001c0001t0001g0245 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0030g0303 a0001c0001t0038g0315 a0001c0001t0055g0348	8	372	0.0215	-28	c.108 others(47): Show c.1087-6556_1087-6529delATATATATATATATATATATATATAT AT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAQR5_chr15_69293912_69412780	69300646	TTTCTTTT others(21): Show TTTCTTTTCTTTCTTTCTTTCATTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	284	0.0035	-28	c.-27 others(47): Show c.-277+1592_-277+1619delTCTTTTCTTTCTTTCTTTCATTCTTT CT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300841	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03471.hp2 NA18961.hp2 others(3): Show HG02897.hp2 HG03471.hp2 NA18961.hp2 NA18979.hp2 NA18981.hp1 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0003t0003 a0002c0002t0003	a0001c0001t0001g0069 a0001c0001t0001g0099 a0001c0001t0006g0251 others(3): Show a0001c0001t0001g0069 a0001c0001t0001g0099 a0001c0001t0006g0251 a0001c0003t0003g0083 a0001c0003t0003g0114 a0002c0002t0003g0133	6	284	0.0211	-28	c.-27 others(47): Show c.-277+1812_-277+1839delTCTTTCTTTCTTTCTTTCTTTCTTTC TT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300937	CTCTTTCT others(21): Show CTCTTTCTTTCCTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG06807.hp2 NA19240.hp1 HG03139.hp1 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0122 a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0002g0122 a0001c0001t0006g0244 a0001c0001t0006g0245	3	284	0.0106	-28	c.-27 others(47): Show c.-277+1892_-277+1919delCTTCTTTCTTTCTTTCTTTCTTTCTT TC	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69355316	CTTTCTTT others(21): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG00673.hp2 others(38): Show HG00408.hp2 HG00621.hp1 HG00673.hp2 HG01261.hp1 HG01884.hp1 HG01993.hp2 HG02071.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02486.hp1 HG02622.hp2 HG02717.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03704.hp1 NA18522.hp1 NA18522.hp2 NA18959.hp2 NA18961.hp2 NA18970.hp1 NA18970.hp2 NA18979.hp1 NA18981.hp1 NA18986.hp1 NA18990.hp2 NA19000.hp2 NA19009.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19074.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0016 a0001c0003t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003	a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0033 others(38): Show a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0152 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0253 a0001c0001t0002g0181 a0001c0001t0004g0197 a0001c0001t0004g0269 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0226 a0001c0001t0013g0113 a0001c0001t0016g0109 a0001c0003t0003g0083 a0001c0003t0003g0142 a0001c0003t0003g0220 a0002c0002t0001g0234 a0002c0002t0002g0097 a0002c0002t0002g0112 a0002c0002t0002g0165 a0002c0002t0002g0194 a0002c0002t0003g0133	41	284	0.1444	-28	c.-11 others(47): Show c.-115-4622_-115-4595delTTTTCTTTCTTTCTTTCTTTCTTTCT TT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69382798	GACCATAT others(21): Show GACCATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01167.hp2 HG02080.hp1 others(19): Show HG00423.hp1 HG01167.hp2 HG02080.hp1 HG02135.hp1 HG02155.hp1 HG02683.hp1 NA18947.hp1 NA18954.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18979.hp2 NA18981.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp2 NA19012.hp2 NA19063.hp1 NA19067.hp2 NA19081.hp1 NA19090.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0028 a0001c0003t0003g0068 a0001c0003t0003g0083 others(19): Show a0001c0003t0003g0028 a0001c0003t0003g0068 a0001c0003t0003g0083 a0001c0003t0003g0106 a0001c0003t0003g0114 a0001c0003t0003g0118 a0001c0003t0003g0159 a0001c0003t0003g0182 a0001c0003t0003g0220 a0001c0003t0003g0259 a0001c0003t0003g0262 a0001c0003t0003g0263 a0001c0003t0003g0264 a0001c0003t0003g0265 a0001c0003t0003g0271 a0001c0003t0003g0272 a0001c0003t0003g0273 a0001c0003t0003g0274 a0001c0003t0003g0275 a0001c0003t0003g0279 a0001c0003t0003g0281 a0001c0003t0003g0282	22	284	0.0775	-28	c.180 others(45): Show c.180-1878_180-1851delACCATATATATATATATATATATATATA	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	4/8			chr15	TogoVar
PAQR5_chr15_69293912_69412780	69393433	TGGCCTCA others(21): Show TGGCCTCAGGGCAGTCACTGTCCACTCTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(179): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18964.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0004t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0009	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(179): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0002g0034 a0001c0001t0003g0005 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0137 a0001c0001t0004g0139 a0001c0001t0004g0141 a0001c0001t0004g0158 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0197 a0001c0001t0004g0218 a0001c0001t0004g0231 a0001c0001t0004g0269 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0189 a0001c0001t0005g0226 a0001c0001t0008g0092 a0001c0001t0008g0095 a0001c0001t0012g0156 a0001c0001t0013g0113 a0001c0001t0014g0006 a0001c0001t0015g0225 a0001c0001t0016g0109 a0001c0001t0017g0053 a0001c0004t0001g0029 a0001c0004t0001g0254 a0002c0002t0001g0032 a0002c0002t0001g0044 a0002c0002t0001g0127 a0002c0002t0001g0143 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0180 a0002c0002t0001g0205 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0234 a0002c0002t0003g0133 a0002c0002t0003g0135 a0002c0002t0003g0188 a0002c0002t0009g0050 a0002c0002t0009g0227	182	284	0.6409	-28	c.512 others(45): Show c.512+3664_512+3691delCAGTCACTGTCCACTCTGGGCCTCAGGG	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD3B_chr2_204540475_205625162	204861162	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01884.hp2 HG02622.hp1 HG00609.hp2 HG01884.hp2 HG02622.hp1	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0001 a0003c0005 a0008c0007 a0002c0001 a0003c0005 a0008c0007	a0002c0001t0002 a0003c0005t0005 a0008c0007t0005 a0002c0001t0002 a0003c0005t0005 a0008c0007t0005	a0002c0001t0002g0005 a0003c0005t0005g0045 a0008c0007t0005g0040 a0002c0001t0002g0005 a0003c0005t0005g0045 a0008c0007t0005g0040	3	54	0.0556	-28	c.223 others(49): Show c.223-103965_223-103938delTCTCTCTCTCTCTCTCTCTCTCTC TCTC	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3_chr10_34104561_34820296	34113498	CACACACA others(21): Show CACACACACACACACACACACACACATAG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp2 HG03471.hp1 HG00741.hp2 HG01109.hp2 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0016 a0001c0002t0002 a0001c0002t0003 a0001c0002t0016	a0001c0002t0002g0039 a0001c0002t0003g0057 a0001c0002t0016g0025 a0001c0002t0002g0039 a0001c0002t0003g0057 a0001c0002t0016g0025	3	100	0.0300	-28	c.366 others(47): Show c.3669-1964_3669-1937delCTATGTGTGTGTGTGTGTGTGTGTGT GT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	24/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34681752	ATATATAT others(21): Show ATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0028 a0001c0004t0002g0028	1	100	0.0100	-28	c.222 others(47): Show c.222+14538_222+14565delAAAAAAAAAAAATATATATATATATA TA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARG_chr10_49813279_49947027	49927369	GGAAAGAA others(21): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	292	0.0034	-28	c.145 others(47): Show c.1455+4703_1456-4701delTTTCTTTCTTTCTTTCTTTCTTTCTT TC	PARG	ENSG00000227345.9	transcript	ENST00000616448.2	protein_coding	4/17			chr10	TogoVar
PARN_chr16_14430701_14635260	14451843	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAATACAA	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01255.hp1 HG02622.hp2 others(4): Show HG01168.hp1 HG01255.hp1 HG02622.hp2 HG02717.hp1 HG03471.hp2 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0017	a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0057 others(4): Show a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0057 a0001c0001t0002g0133 a0001c0001t0003g0044 a0001c0001t0003g0104 a0001c0001t0017g0046	7	169	0.0414	-28	c.167 others(47): Show c.1671-4790_1671-4763delTTGTATTTTTTTTTTTTTTTTTTTTT TT	PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	22/23			chr16	TogoVar
PARP14_chr3_122675839_122735840	122715595	CATCTATC others(21): Show CATCTATCTATCTATCTATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01071.hp2 others(4): Show HG00280.hp1 HG01070.hp1 HG01071.hp2 HG01346.hp1 NA18747.hp1 NA19060.hp1 NA19077.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0140 a0001c0003t0007g0167 a0001c0003t0007g0168 others(4): Show a0001c0003t0007g0140 a0001c0003t0007g0167 a0001c0003t0007g0168 a0001c0003t0007g0170 a0001c0003t0007g0322 a0001c0003t0007g0325 a0001c0003t0007g0326	7	366	0.0191	-28	c.400 others(47): Show c.4000+1198_4000+1225delTATCTATCTATCTATCTATCTATCTA TC	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PARP15_chr3_122572650_122644047	122573501	TACTATAT others(21): Show TACTATATTGCCCTGTCTCTCAAGGGAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	356	0.0028	-28	c.-41 others(39): Show c.-4166_-4139delACTATATTGCCCTGTCTCTCAAGGGAAG	PARP15	ENSG00000173200.13	transcript	ENST00000464300.7	protein_coding		4148		chr3	TogoVar
PARP8_chr5_50661637_50851519	50754134	TATATATA others(21): Show TATATATATATATATATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02622.hp1 HG02895.hp2 others(1): Show HG01433.hp1 HG02622.hp1 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 others(1): Show a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0160	4	328	0.0122	-28	c.184 others(45): Show c.184+3948_184+3975delTATATATATATATATACACACACACACA	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar

Search by Variant

Search

Search Results (Total: 7045 hits)