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 limited to 10,000 hits. Refine your search for more specific results.

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
NUP93_chr16_56725129_56855286	56808153	T T	TAATATAT others(93): Show TAATATATAGTTATATAACTATATATTTTATATAGTTATATAACTATATA TTTTATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATA A	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0351 a0001c0001t0003g0352 a0001c0001t0003g0351 a0001c0001t0003g0352	2	378	0.0053	100	c.489 others(117): Show c.489+2545_489+2546insTTTTATATAGTTATATAACTATATATTT TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808153	T T	TTTTATAT others(93): Show TTTTATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATA AAATATATAGTTATATAACTATATAAAATATATAGTTATGTAACTATATA A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01496.hp2 NA18952.hp1 HG01433.hp2 HG01496.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0221 a0001c0001t0004g0232 a0001c0001t0004g0236 a0001c0001t0004g0221 a0001c0001t0004g0232 a0001c0001t0004g0236	3	378	0.0079	100	c.489 others(117): Show c.489+2521_489+2522insTTTATATAGTTATATAACTATATAAAAT ATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAAT ATATAGTTATGTAACTATATAA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21			chr16	TogoVar
OBI1_chr13_78609289_78664155	78659300	A A	AAAAGAAA others(93): Show AAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	296	0.0034	100	c.-18 others(109): Show c.-181_-180insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TTCTTTCTTTCTTT	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		146		chr13	TogoVar
OBI1_chr13_78609289_78664155	78659326	A A	AAGAAAGA others(93): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAGA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	296	0.0034	100	c.-20 others(109): Show c.-207_-206insGTCTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		172		chr13	TogoVar
OCLN_chr5_69487790_69563104	69515528	C C	CGGGGGGC others(93): Show CGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGG G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0063 a0001c0001t0008g0063	1	290	0.0035	100	c.891 others(117): Show c.891+1469_891+1470insTGGGGGGCTGACCCCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGGGGGGGGCTGACCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGG	OCLN	ENSG00000197822.12	transcript	ENST00000396442.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
OCLN_chr5_69487790_69563104	69515539	C C	CCCCCCCC others(93): Show CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGGGGGGGGCTG A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	290	0.0035	100	c.891 others(117): Show c.891+1487_891+1488insCACCTCCCTCCCAGACGGGGCGGCTGGC CGGGGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCC	OCLN	ENSG00000197822.12	transcript	ENST00000396442.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
OCLN_chr5_69487790_69563104	69515539	C C	CCCCCCCC others(93): Show CCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCT GACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGGGGGGGGCTG A	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0239 a0001c0001t0024g0239	1	290	0.0035	100	c.891 others(117): Show c.891+1438_891+1439insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGGGGGGGGCTGACCCCCCCC	OCLN	ENSG00000197822.12	transcript	ENST00000396442.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
OCLN_chr5_69487790_69563104	69515539	C C	CCCCCCCC others(93): Show CCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCT GACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCGGGGGGGGGGGCTG A	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	290	0.0035	100	c.891 others(117): Show c.891+1438_891+1439insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCG GGGGGGGGGGCTGACCCCCCCC	OCLN	ENSG00000197822.12	transcript	ENST00000396442.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
OCLN_chr5_69487790_69563104	69515539	C C	CCCCCCCC others(93): Show CCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGC TGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGGGGGGGCTG A	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA19083.hp2 HG03669.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0212 a0001c0001t0003g0213	2	290	0.0069	100	c.891 others(117): Show c.891+1438_891+1439insCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGC CGGGGGGGGGCTGACCCCCCCC	OCLN	ENSG00000197822.12	transcript	ENST00000396442.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
OCLN_chr5_69487790_69563104	69515579	C C	CGGGGGGC others(93): Show CGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGG GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0195 a0001c0001t0017g0195	1	290	0.0035	100	c.891 others(117): Show c.891+1498_891+1499insAGACGGGGCGGCTGGCCGGGGGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCACCTCCCTCCC	OCLN	ENSG00000197822.12	transcript	ENST00000396442.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
ODF3_chr11_191761_205258	196113	C C	CTGGTGAG others(93): Show CTGGTGAGGGGACATGGGGGGGACCTTGGTGAGCGGACCTGGTGAGGGGA CATGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACC T	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	388	0.0026	100	c.-94 others(109): Show c.-942_-941insTGGTGAGGGGACATGGGGGGGACCTTGGTGAGCGGA CCTGGTGAGGGGACATGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGA CATGGGGGGGACCT	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		647		chr11	TogoVar
OR11H4_chr14_20234286_20249349	20237113	T T	TATTACAC others(93): Show TATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGCACA TATAAAATATATACCACATATTACACGTGGCACATATAAAATATATACCA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	2	439	0.0046	100	c.-22 others(111): Show c.-2230_-2229insATTACACGTGGCACATATAAAATATATACCACAT ATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGCACAT ATAAAATATATACCAC	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		2172		chr14	TogoVar
OR52H1_chr11_5539561_5553540	5549455	C C	CCAACAAT others(93): Show CCAACAATTCTGAAAGCCAAGTCAGTTTTTGTCAATGTTTGTCAAACATT TGCTAAATATTGTTGAATGTGTTAATTAATAAAGATGGCCAGGAGTCCAC T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	428	0.0023	100	c.-10 others(111): Show c.-1035_-1034insAGTGGACTCCTGGCCATCTTTATTAATTAACACA TTCAACAATATTTAGCAAATGTTTGACAAACATTGACAAAAACTGACTTG GCTTTCAGAATTGTTG	OR52H1	ENSG00000181616.10	transcript	ENST00000322653.7	protein_coding		916		chr11	TogoVar
OR52H1_chr11_5539561_5553540	5549455	C C	CCAACAAT others(93): Show CCAACAATTCTGAAAGCCAAGTCAGTTTTTGTCAATGTTTGTCAAACGTT TGCTAAATATTGTTGAATGTGTTAATTAATAAAGATGGCCAGGAGTCCAC T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(241): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0007 a0008 a0009 a0011 a0012 a0014 a0015	a0001c0001 a0001c0005 a0001c0014 others(10): Show a0001c0001 a0001c0005 a0001c0014 a0001c0019 a0002c0002 a0003c0003 a0007c0008 a0008c0010 a0009c0011 a0011c0012 a0012c0013 a0014c0017 a0015c0018	a0001c0001t0001 a0001c0001t0004 a0001c0005t0003 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0005t0003 a0001c0014t0004 a0001c0019t0001 a0002c0002t0001 a0002c0002t0004 a0003c0003t0001 a0007c0008t0001 a0008c0010t0001 a0009c0011t0001 a0011c0012t0001 a0012c0013t0001 a0014c0017t0001 a0015c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 others(42): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0004g0047 a0001c0005t0003g0018 a0001c0005t0003g0022 a0001c0005t0003g0044 a0001c0005t0003g0045 a0001c0005t0003g0050 a0001c0014t0004g0046 a0001c0019t0001g0062 a0002c0002t0001g0068 a0002c0002t0001g0071 a0002c0002t0004g0048 a0002c0002t0004g0049 a0003c0003t0001g0002 a0003c0003t0001g0010 a0003c0003t0001g0019 a0003c0003t0001g0052 a0003c0003t0001g0060 a0003c0003t0001g0067 a0003c0003t0001g0069 a0003c0003t0001g0072 a0003c0003t0001g0073 a0007c0008t0001g0025 a0007c0008t0001g0053 a0008c0010t0001g0020 a0009c0011t0001g0057 a0009c0011t0001g0059 a0009c0011t0001g0063 a0011c0012t0001g0024 a0012c0013t0001g0026 a0014c0017t0001g0054 a0015c0018t0001g0061	244	428	0.5701	100	c.-10 others(111): Show c.-1035_-1034insAGTGGACTCCTGGCCATCTTTATTAATTAACACA TTCAACAATATTTAGCAAACGTTTGACAAACATTGACAAAAACTGACTTG GCTTTCAGAATTGTTG	OR52H1	ENSG00000181616.10	transcript	ENST00000322653.7	protein_coding		916		chr11	TogoVar
OR52H1_chr11_5539561_5553540	5549470	G G	GCCAAGTC others(93): Show GCCAAGTCAGTTTTTGTCAATGTTTGTCAAACGTTTGCTAAATATTGTTG AATGTGTTAATTAATAAAGATGGCCAGGAGTCCACTCAACAATTCTGAAA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02886.hp2 HG03130.hp2 others(2): Show HG02257.hp2 HG02886.hp2 HG03130.hp2 HG03195.hp1 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	5	428	0.0117	100	c.-10 others(111): Show c.-1050_-1049insATTTCAGAATTGTTGAGTGGACTCCTGGCCATCT TTATTAATTAACACATTCAACAATATTTAGCAAACGTTTGACAAACATTG ACAAAAACTGACTTGG	OR52H1	ENSG00000181616.10	transcript	ENST00000322653.7	protein_coding		931		chr11	TogoVar
OR9A4_chr7_141911399_141925625	141913769	C C	CTAAAATA others(93): Show CTAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	446	0.0022	100	c.-28 others(111): Show c.-2898_-2897insTAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAA	OR9A4	ENSG00000258083.2	transcript	ENST00000641559.1	protein_coding		2629		chr7	TogoVar
OSGIN1_chr16_83948240_83971332	83950358	T T	TACATGCA others(93): Show TACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACA CGTACACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0023 a0001c0002t0004g0023	2	350	0.0057	100	c.-30 others(111): Show c.-3045_-3044insACATGCACACATGAGCACATGTGCACACATGCAC ATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCAC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2881		chr16	TogoVar
OSTF1_chr9_75083514_75152265	75139056	T T	TTCTTTCT others(93): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTTCTTTCTTCTTTCTTTCTTTTCTTTCTTTCTTTTCTTT C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02258.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0082 a0001c0001t0013g0150 a0001c0001t0013g0082 a0001c0001t0013g0150	2	366	0.0055	100	c.487 others(117): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTCTTTCTTTCT TTTCTTTCTTTCTTTTCTTTCT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
P2RY8_chrX_1457581_1542185	1468758	C C	CTCCCTCT others(93): Show CTCCCTCTCCCCTCTCCCTCTCCCCTCTCTCCTCTCCCTCTCCCCTCCCC TTCCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCT T	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	114	0.0088	100	c.-24 others(117): Show c.-24-2177_-24-2176insAAGGGGAGGGGAGAGGGGAGAGGGAAGG GGAGGGGAGAGGGGAGAGGGGAAGGGGAGGGGAGAGGGAGAGGAGAGAGG GGAGAGGGAGAGGGGAGAGGGA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P4HA2_chr5_132185147_132232853	132208421	G G	GGGAGGGG others(93): Show GGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGAGGGGAGGGGAG A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	426	0.0024	100	c.904 others(115): Show c.904-538_904-537insTCTCCCCTCCCCTCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCTCCCCTCC	P4HA2	ENSG00000072682.20	transcript	ENST00000360568.8	protein_coding	7/14			chr5	TogoVar
PACSIN2_chr22_42864773_43020149	43014321	T T	TACACACA others(93): Show TACACACACACACACACACACCTCCCCGGCCTCTCCTGCTTGGCCCCAGC CCTAGGACGTGCTGCGGTAAGGGCTTTGCTCCCCCCGCCCTACACACACA C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0184 a0001c0001t0001g0185	2	294	0.0068	100	c.-78 others(115): Show c.-78+699_-78+700insGTGTGTGTGTAGGGCGGGGGGAGCAAAGCC CTTACCGCAGCACGTCCTAGGGCTGGGGCCAAGCAGGAGAGGCCGGGGAG GTGTGTGTGTGTGTGTGTGT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(93): Show CTATCTTGGTCTGTTTTCCCCCAGGATAGATAGATAGATATATATATATA TATATATATATATATATATATATATATATATACAGTAACTTTTAAAAAGT T	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19072.hp2 NA18995.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0112 a0001c0001t0002g0113	2	408	0.0049	100	c.181 others(117): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATAGA TAGATAGATATATATATATATATATATATATATATATATATATATATATA TACAGTAACTTTTAAAAAGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(93): Show CTATCTTGGTCTGTTTTCCCCCAGGATAGATAGATATATATATATATATA TATATATATATATATATATATATATATATATACAGTAACTTTTAAAAAGT T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02129.hp1 NA20129.hp2 HG01358.hp2 HG02129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0102 a0001c0001t0002g0124 a0001c0001t0002g0090 a0001c0001t0002g0102 a0001c0001t0002g0124	3	408	0.0074	100	c.181 others(117): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATAGA TAGATATATATATATATATATATATATATATATATATATATATATATATA TACAGTAACTTTTAAAAAGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(93): Show CTATCTTGGTCTGTTTTCCCCCAGGATAGATATAGATATATATATATATA TATATATATATATATATATATATATATATATACAGTAACTTTTAAAAAGT T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	408	0.0025	100	c.181 others(117): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATAGA TATAGATATATATATATATATATATATATATATATATATATATATATATA TACAGTAACTTTTAAAAAGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(93): Show CTATCTTGGTCTGTTTTCCCCCAGGATAGATATATATATATATATATATA TATATATATAGATATATATATATATATATATACAGTAACTTTTAAAAAGT T	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18981.hp1 NA18986.hp2 others(4): Show NA18951.hp2 NA18981.hp1 NA18986.hp2 NA18994.hp1 NA19056.hp2 NA19062.hp2 NA19083.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0013 a0001c0001 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0008c0013t0009	a0001c0001t0001g0140 a0001c0001t0002g0142 a0001c0001t0002g0143 others(3): Show a0001c0001t0001g0140 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0009g0020 a0001c0001t0009g0139 a0008c0013t0009g0141	7	408	0.0172	100	c.181 others(117): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATAGA TATATATATATATATATATATATATATATAGATATATATATATATATATA TACAGTAACTTTTAAAAAGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(93): Show CTATCTTGGTCTGTTTTCCCCCAGGATAGATATATATATATATATATATA TATATATATATATATATATATATATATATATACAGTAACTTTTAAAAAGT T	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02293.hp2 NA18955.hp1 others(1): Show HG01993.hp2 HG02293.hp2 NA18955.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 others(1): Show a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0002g0163	4	408	0.0098	100	c.181 others(117): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATAGA TATATATATATATATATATATATATATATATATATATATATATATATATA TACAGTAACTTTTAAAAAGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(93): Show CTATCTTGGTCTGTTTTCCCCCAGGATATATATATATATATATATATATA TATATATATATATATATATATATATATATATACAGTAACTTTTAAAAAGT T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02647.hp2 HG02896.hp1 others(3): Show HG02155.hp1 HG02647.hp2 HG02896.hp1 HG03017.hp1 HG03471.hp2 HG03491.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0004 a0005c0005 a0001c0001 a0004c0004 a0005c0005	a0001c0001t0003 a0001c0001t0008 a0004c0004t0010 others(1): Show a0001c0001t0003 a0001c0001t0008 a0004c0004t0010 a0005c0005t0003	a0001c0001t0003g0013 a0001c0001t0008g0030 a0004c0004t0010g0074 others(1): Show a0001c0001t0003g0013 a0001c0001t0008g0030 a0004c0004t0010g0074 a0005c0005t0003g0267	6	408	0.0147	100	c.181 others(117): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TACAGTAACTTTTAAAAAGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(93): Show CTATCTTGGTCTGTTTTCCCCCAGGATATATATATATATATATATATATA TATATATATATATATATATATATATATATATACAGTAACTTTTAAAAGGT T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03486.hp1 HG02970.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0051 a0001c0001t0001g0052	2	408	0.0049	100	c.181 others(117): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TACAGTAACTTTTAAAAGGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PARD3B_chr2_204540475_205625162	205380577	A A	ATATATAT others(93): Show ATATATATTATATATAATATATACAGTATATATTATATATAATATATAAA GTATATATTATATATAATATATAAAGTATATATTATATATAATATATAAA G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0003 a0004c0012t0003	a0004c0012t0003g0004 a0004c0012t0003g0004	1	54	0.0185	100	c.263 others(121): Show c.2631-20414_2631-20413insCAGTATATATTATATATAATATAT AAAGTATATATTATATATAATATATAAAGTATATATTATATATAATATAT AAAGTATATATTATATATAATATATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3_chr10_34104561_34820296	34605543	A A	ATATATAT others(93): Show ATATATATCTCCTATATATATATATATATATCTCCTATATATATATATCT CCTATATATATATATCTCCTATATATATATCTCCTATATATATATATCTC C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01106.hp1 HG00099.hp2 HG01106.hp1	a0001 a0001	a0001c0003 a0001c0015 a0001c0003 a0001c0015	a0001c0003t0001 a0001c0015t0001 a0001c0003t0001 a0001c0015t0001	a0001c0003t0001g0076 a0001c0015t0001g0065 a0001c0003t0001g0076 a0001c0015t0001g0065	2	100	0.0200	100	c.223 others(119): Show c.223-88385_223-88384insGGAGATATATATATATAGGAGATATA TATATAGGAGATATATATATATAGGAGATATATATATATAGGAGATATAT ATATATATATATAGGAGATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARVG_chr22_44175925_44213469	44198937	T T	TCCACCCA others(93): Show TCCACCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CACCCACCCACCCATCCACCCACCCACCCACCCACCCATCCACCCACCCA C	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0227 a0001c0002t0001g0227	1	422	0.0024	100	c.813 others(115): Show c.813+266_813+267insCCCACCCACCCATCCACCCACCCACCCACC CACCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCA	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVG_chr22_44175925_44213469	44198940	A A	ATCCATCC others(93): Show ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCATCCACCCAC CCACCCATCCATCCATCCATCCACCCACCCACCCACCCGTCCGTCCGTCC G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	422	0.0024	100	c.813 others(115): Show c.813+218_813+219insTCCATCCATCCATCCATCCATCCATCCACC CACCCACCCATCCACCCACCCACCCATCCATCCATCCATCCACCCACCCA CCCACCCGTCCGTCCGTCCG	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	12/13			chr22	TogoVar
PASD1_chrX_151558675_151681739	151562906	C C	CCGGGCGG others(93): Show CCGGGCGGGGGCGGGGGGGCAGCTGGGGCGGGGGGCGGGGGGGGGCGGGG GGGGGCGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGGGCGGG G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0164 a0001c0002t0002g0164	1	221	0.0045	100	c.-96 others(109): Show c.-961_-960insCGGGCGGGGGCGGGGGGGCAGCTGGGGCGGGGGGCG GGGGGGGGCGGGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGG CGGGGGGGGCGGGG	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		768		chrX	TogoVar
PAX5_chr9_36828269_37039268	36973083	C C	CGGAAAGG others(93): Show CGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAGAAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGAAAAGGAA A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0111 a0001c0001t0033g0111	1	274	0.0037	100	c.605 others(117): Show c.605-6360_605-6359insTTTCCTTTTCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTTCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCC	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar
PAX5_chr9_36828269_37039268	36973083	C C	CGGAAAGG others(93): Show CGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGAAAAGGAAAGGAAAGGAAAGGAAAGGAAAGAAAAGGAA A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01515.hp1 NA19007.hp1 HG00639.hp1 HG01515.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0040 a0001c0001t0001 a0001c0001t0040	a0001c0001t0001g0125 a0001c0001t0001g0156 a0001c0001t0040g0002 a0001c0001t0001g0125 a0001c0001t0001g0156 a0001c0001t0040g0002	3	274	0.0110	100	c.605 others(117): Show c.605-6360_605-6359insTTTCCTTTTCTTTCCTTTCCTTTCCTTT CCTTTCCTTTTCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCC	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar
PAX5_chr9_36828269_37039268	36973135	A A	AAAAGGAA others(93): Show AAAAGGAAAGGAAAGGAAAGGAAAGGAAAGAAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGAAAAG G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0169 a0001c0004t0014g0169	1	274	0.0037	100	c.605 others(117): Show c.605-6412_605-6411insCCTTTTCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCTTTCCT TTCCTTTCCTTTCCTTTCCTTT	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(93): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	436	0.0023	100	c.-26 others(111): Show c.-2680_-2679insGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PCGF3_chr4_700832_775089	732010	T T	TGGGGTGG others(93): Show TGGGGTGGGCGTGGGTCCTCAGGGGCGTAGGGCGGGGCTCCCCTCCCTCG TGGGTGGGCGAGGTCCTCAGGGGCGTAGGGCGGGGCTCCCCTCCCCTCGT G	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0097 a0001c0001t0006g0097	1	366	0.0027	100	c.-10 others(115): Show c.-10+903_-10+904insGTGGGCGTGGGTCCTCAGGGGCGTAGGGCG GGGCTCCCCTCCCTCGTGGGTGGGCGAGGTCCTCAGGGGCGTAGGGCGGG GCTCCCCTCCCCTCGTGGGG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCSK6_chr15_101298933_101494707	101311937	A A	ACCCTCAC others(93): Show ACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA C	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0264 a0001c0002t0001g0264	1	336	0.0030	100	c.269 others(119): Show c.2699+1438_2699+1439insGTGACGATGGGGTGGGCTGTGAGGGG TGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGG TGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312185	G G	GTCACCCC others(93): Show GTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATC GTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATC A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0004 a0004	a0004c0042 a0004c0042	a0004c0042t0001 a0004c0042t0001	a0004c0042t0001g0049 a0004c0042t0001g0049	1	336	0.0030	100	c.269 others(119): Show c.2699+1190_2699+1191insTGATGGGGTGGGCTGTGAGGGGTGAC GATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGAC GATGGGGTGGGCTGTGAGGGGTGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDCD1_chr2_241844884_241863894	241848234	T T	TTGAGAGC others(93): Show TTGAGAGCCTTGAGTTCTGGATGCTGGCGCGCTGCGCTGACAATGGATGA ATGAGAGCCTTGAGTTCTGGACGCTGGCGCGCTGCGCTGTCAATGGATGA A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	407	0.0025	100	c.28 others(111): Show c.2823_*2824insTTCATCCATTGACAGCGCAGCGCGCCAGCGTCCA GAACTCAAGGCTCTCATTCATCCATTGTCAGCGCAGCGCGCCAGCATCCA GAACTCAAGGCTCTCA	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		1649		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241848316	T T	TGCGCTGA others(93): Show TGCGCTGACAATGGATGAATGAGAGCCTTGAGTTCTGGATGCTGGCGCGC CGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGTCGCTGGTGCAC A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0002 a0002c0003t0002g0002	1	407	0.0025	100	c.27 others(111): Show c.2741_*2742insTGTGCACCAGCGACCAGAACTCACGTCTCTCATT CATCCACTGACAGCGCGGCGCGCCAGCATCCAGAACTCAAGGCTCTCATT CATCCATTGTCAGCGC	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		1567		chr2	TogoVar
PDE6B_chr4_620573_675782	651173	A A	AGCAGTGG others(93): Show AGCAGTGGGGCCGTCACAGGCGGGGCAGGGGCTGAGGCGGCGATGTCAAC GGCAGTGGGGCCGTCACAGGCGGGGCAGGGGCTGAGGCGGCGATGTCAAC G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG01099.hp1 others(62): Show HG00423.hp1 HG00621.hp1 HG01099.hp1 HG01884.hp2 HG02004.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02965.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp2 NA18944.hp2 NA18952.hp2 NA18964.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18991.hp2 NA18994.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19056.hp1 NA19064.hp1 NA19074.hp1 NA19080.hp2 NA19087.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1	a0001 a0006 a0011 others(3): Show a0001 a0006 a0011 a0013 a0016 a0018	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0017 a0001c0029 a0006c0013 a0011c0022 a0013c0019 a0016c0014 a0018c0031	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0004t0001 a0001c0005t0001 a0001c0017t0004 a0001c0029t0001 a0006c0013t0010 a0011c0022t0003 a0013c0019t0001 a0016c0014t0002 a0018c0031t0003	a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0009 others(59): Show a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0068 a0001c0001t0002g0073 a0001c0001t0002g0080 a0001c0001t0002g0091 a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0008 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0051 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0004g0065 a0001c0001t0004g0087 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0084 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0004g0011 a0001c0002t0004g0029 a0001c0002t0004g0059 a0001c0002t0004g0090 a0001c0004t0001g0031 a0001c0004t0001g0052 a0001c0004t0001g0053 a0001c0004t0001g0064 a0001c0004t0001g0085 a0001c0004t0001g0092 a0001c0005t0001g0260 a0001c0005t0001g0261 a0001c0005t0001g0262 a0001c0017t0004g0030 a0001c0029t0001g0026 a0006c0013t0010g0041 a0006c0013t0010g0042 a0011c0022t0003g0077 a0013c0019t0001g0061 a0016c0014t0002g0008 a0018c0031t0003g0069	65	308	0.2110	100	c.712 others(117): Show c.712-2580_712-2579insGGCAGTGGGGCCGTCACAGGCGGGGCAG GGGCTGAGGCGGCGATGTCAACGGCAGTGGGGCCGTCACAGGCGGGGCAG GGGCTGAGGCGGCGATGTCAAC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	651235	G G	GTCACAGG others(93): Show GTCACAGGCGGGGCAGGGGCTGAGGCGGCGATGTCAACGGCAGTGGGGCC GTCACAGGCGGGGCAGGGGCTGAGGCGGCGATGTCAACGGCAGTGGGGCC A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG01071.hp1 others(4): Show HG00099.hp1 HG00735.hp2 HG01071.hp1 HG01346.hp2 HG02602.hp2 HG02976.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0056 a0001c0001t0001g0075 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0056 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0178	7	308	0.0227	100	c.712 others(117): Show c.712-2580_712-2579insGGCAGTGGGGCCGTCACAGGCGGGGCAG GGGCTGAGGCGGCGATGTCAACGGCAGTGGGGCCATCACAGGCGGGGCAG GGGCTGAGGCGGCGATGTCAAC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE9A_chr21_42648621_42780509	42778563	G G	GCCCCCGC others(93): Show GCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGGGTCAG C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0148 a0001c0002t0001g0148	1	324	0.0031	100	c.32 others(111): Show c.3270_*3271insCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAG GTGGGGGGGGGTCAGC	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding		3055		chr21	TogoVar
PDIA5_chr3_123062025_123167104	123152015	T T	TCCTGCCT others(93): Show TCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTTCTTC CTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTTCTTCCT G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01433.hp1 HG02109.hp1 others(10): Show HG01109.hp2 HG01433.hp1 HG02109.hp1 HG02258.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp2 HG02896.hp1 HG03139.hp1 HG03453.hp2 HG03579.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0007 others(1): Show a0001c0001 a0001c0003 a0002c0007 a0002c0008	a0001c0001t0001 a0001c0003t0001 a0002c0007t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0007t0001 a0002c0008t0001	a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0054 others(10): Show a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0054 a0001c0001t0001g0082 a0001c0001t0001g0122 a0001c0001t0001g0240 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0001g0324 a0001c0003t0001g0278 a0002c0007t0001g0287 a0002c0008t0001g0047 a0002c0008t0001g0288	13	332	0.0392	100	c.127 others(119): Show c.1273+1658_1273+1659insGCCTTCCTTCCTGCCTGCCTTCCTTC CTGCCTGCCTTTCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCT GCCTGCCTTTCTTCCTGCCTGCCT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDPN_chr1_13578832_13622957	13588980	A A	AGCTACTA others(93): Show AGCTACTATTCAATAAATTGAATAGTGCTACTATTCAATAAATTGAATAG TGCTACTATTCAATAAATTGAATAGTGCTACTATTCAATAAATTGAATAG T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01516.hp1 HG01517.hp2 others(9): Show HG01496.hp1 HG01516.hp1 HG01517.hp2 HG02738.hp1 HG02886.hp1 HG03491.hp2 HG03492.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp1 HG06807.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0022 a0003c0004t0022	a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0002g0006 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0002g0006 a0001c0001t0004g0039 a0001c0001t0009g0028 a0001c0001t0009g0029 a0001c0001t0022g0154 a0003c0004t0022g0153 a0003c0004t0022g0408	12	446	0.0269	100	c.67+ others(115): Show c.67+4897_67+4898insTGAATAGTGCTACTATTCAATAAATTGAAT AGTGCTACTATTCAATAAATTGAATAGTGCTACTATTCAATAAATTGAAT AGTGCTACTATTCAATAAAT	PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDSS2_chr6_107147562_107464564	107402458	A A	ATACGTAT others(93): Show ATACGTATATATATGTATACATATATATACTTATATATATGTATACATAT ATATACGTATATATATGTATACATATATATACGTATATATATGTATATAT G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	260	0.0039	100	c.296 others(119): Show c.296+56531_296+56532insCATATATACATATATATACGTATATA TATGTATACATATATATACGTATATATATGTATACATATATATAAGTATA TATATGTATACATATATATACGTA	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDXK_chr21_43714129_43767299	43741268	G G	GGGGGGCT others(93): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGG CTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCG C	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0081 a0001c0002t0003g0081	1	358	0.0028	100	c.143 others(115): Show c.143-394_143-393insCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCT CGCGGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741419	G G	GGGGGGCT others(93): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGG C	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0082 a0001c0002t0003g0082	1	358	0.0028	100	c.143 others(115): Show c.143-243_143-242insCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTGGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar

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Search Results (Total: 10000 hits)