Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NOL9_chr1_6516347_6559513	6517071	AACCCCAT others(51): Show AACCCCATCTCCACTAAAAATACAAAAAAAAAGGCCAGGCGCGGTAGCTC ACGCCTGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02258.hp2 others(18): Show HG02055.hp2 HG02145.hp2 HG02258.hp2 HG02559.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03130.hp1 HG03195.hp2 HG03486.hp1 HG03688.hp2 HG03710.hp2 NA18522.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA21309.hp2	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0004 a0002c0008 a0003c0005 others(1): Show a0002c0004 a0002c0008 a0003c0005 a0008c0011	a0002c0004t0010 a0002c0004t0028 a0002c0004t0072 others(10): Show a0002c0004t0010 a0002c0004t0028 a0002c0004t0072 a0002c0004t0073 a0002c0004t0074 a0002c0008t0020 a0002c0008t0021 a0002c0008t0051 a0003c0005t0031 a0003c0005t0056 a0003c0005t0057 a0003c0005t0060 a0008c0011t0075	a0002c0004t0010g0006 a0002c0004t0010g0016 a0002c0004t0010g0036 others(14): Show a0002c0004t0010g0006 a0002c0004t0010g0016 a0002c0004t0010g0036 a0002c0004t0028g0035 a0002c0004t0028g0038 a0002c0004t0072g0037 a0002c0004t0073g0034 a0002c0004t0074g0039 a0002c0008t0020g0017 a0002c0008t0021g0040 a0002c0008t0021g0042 a0002c0008t0051g0041 a0003c0005t0031g0113 a0003c0005t0056g0112 a0003c0005t0057g0111 a0003c0005t0060g0114 a0008c0011t0075g0033	21	340	0.0618	-58	c.87 others(69): Show c.8725_*8782delCTCAGGCGTGAGCTACCGCGCCTGGCCTTTTTTT TTGTATTTTTAGTGGAGATGGGGT	NOL9	ENSG00000162408.11	transcript	ENST00000377705.6	protein_coding		4275		chr1	TogoVar
NOP14_chr4_2932936_2968406	2960753	AATCACAT others(51): Show AATCACATTAATATTAATATATTAATATTATAATCACATTAATATTAATA TATTAATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0314 a0001c0001t0004g0314	1	422	0.0024	-58	c.195 others(75): Show c.195+2314_195+2371delATATTAATATATTAATATTAATGTGATT ATAATATTAATATATTAATATTAATGTGAT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NRXN1_chr2_49913503_51037132	50329599	GTGTGTGT others(51): Show GTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATATAT ATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0079 a0001c0002t0003g0079	1	116	0.0086	-58	c.336 others(79): Show c.3365-92687_3365-92630delTATATATATATATATATATATATA TATATATATATATATACACACACACACACACACA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NSDHL_chrX_152826063_152874729	152872631	GGTGTGTT others(51): Show GGTGTGTTTGTGGGTGTGTTTGTGGGTGTGCGGGTGTGTGTGTGGGTGGG TGTGGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0069 a0001c0002t0006g0069	1	324	0.0031	-58	c.35 others(69): Show c.3516_*3573delGTGTGTTTGTGGGTGTGTTTGTGGGTGTGCGGGT GTGTGTGTGGGTGGGTGTGGGTGT	NSDHL	ENSG00000147383.11	transcript	ENST00000370274.8	protein_coding		2903		chrX	TogoVar
NTRK2_chr9_84664729_85032054	84922449	TTATTTGT others(51): Show TTATTTGTATACTTATCTCATCTCTCTGTTAGACTCTCCATCTTTTGAGC AAAAGAATC	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0087 a0003c0006t0003g0087	1	170	0.0059	-58	c.163 others(79): Show c.1634-11712_1634-11655delTATTTGTATACTTATCTCATCTCT CTGTTAGACTCTCCATCTTTTGAGCAAAAGAATC	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18			chr9	TogoVar
NTSR1_chr20_62703836_62767771	62747713	GATGACAT others(51): Show GATGACATGAACTTATGTATAGAAAACCCTAAAGACTCCACAAAAACAAA AACAAAAAC	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	316	0.0032	-58	c.715 others(75): Show c.715-6970_715-6913delTGACATGAACTTATGTATAGAAAACCCT AAAGACTCCACAAAAACAAAAACAAAAACA	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
NUMB_chr14_73270216_73463546	73352453	CACACATA others(51): Show CACACATACACACACACACACACACATATATATATATATATATATATATA TATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02630.hp1 HG03098.hp2 others(3): Show HG02486.hp2 HG02630.hp1 HG03098.hp2 HG03195.hp1 HG03453.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0005g0014 a0001c0001t0005g0015	6	322	0.0186	-58	c.126 others(75): Show c.126+3115_126+3172delATATATATATATATATATATATATATAT ATATATGTGTGTGTGTGTGTGTGTATGTGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352455	CACATACA others(51): Show CACATACACACACACACACACACATATATATATATATATATATATATATA TATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03486.hp2 HG03098.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0003 a0001c0001t0006g0011 a0001c0001t0001g0003 a0001c0001t0006g0011	2	322	0.0062	-58	c.126 others(75): Show c.126+3113_126+3170delATATATATATATATATATATATATATAT ATATATATGTGTGTGTGTGTGTGTGTATGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NXN_chr17_794310_984776	893908	TCCCTGGA others(51): Show TCCCTGGAAGCCAGAGGAAGCAACTCAACTCCCTGGAAGCCAGAGGAAGC ATCTCAACC	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	242	0.0041	-58	c.361 others(77): Show c.361-67888_361-67831delGGTTGAGATGCTTCCTCTGGCTTCCA GGGAGTTGAGTTGCTTCCTCTGGCTTCCAGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949140	TCCCCGCT others(51): Show TCCCCGCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCGCGGCCT CCTCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG01243.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0003 a0001c0009t0013 a0001c0001t0003 a0001c0009t0013	a0001c0001t0003g0227 a0001c0009t0013g0196 a0001c0001t0003g0227 a0001c0009t0013g0196	2	242	0.0083	-58	c.360 others(77): Show c.360+30121_360+30178delGAGAGGAGGAGGCCGCGGGGAGAGGA GGAGGCCGCGGGGAGAGGAGGAGGCAGCGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949615	TCCCCGCG others(51): Show TCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGTTGCCT CCTCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03579.hp2 HG03654.hp1 others(3): Show HG02922.hp2 HG03579.hp2 HG03654.hp1 HG03704.hp2 NA19043.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0002 a0001c0001t0003 a0001c0002t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0004 a0002c0005t0004 a0002c0005t0009	a0001c0001t0002g0056 a0001c0001t0002g0079 a0001c0001t0003g0198 others(3): Show a0001c0001t0002g0056 a0001c0001t0002g0079 a0001c0001t0003g0198 a0001c0002t0004g0228 a0002c0005t0004g0197 a0002c0005t0009g0199	6	242	0.0248	-58	c.360 others(77): Show c.360+29646_360+29703delGAGAGGAGGAGGCAACGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
ODAD2_chr10_27807168_28004079	27940227	CATATATG others(51): Show CATATATGTGTGATATATATATAAATGTCAGTATATGTGATATATATATA AATGCCAGT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 NA19006.hp1 others(1): Show HG02109.hp1 HG02258.hp2 NA19006.hp1 NA19240.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0008c0012t0001	a0001c0001t0001g0140 a0001c0001t0002g0104 a0001c0001t0004g0198 others(1): Show a0001c0001t0001g0140 a0001c0001t0002g0104 a0001c0001t0004g0198 a0008c0012t0001g0186	4	304	0.0132	-58	c.198 others(75): Show c.1986+278_1987-221delACTGGCATTTATATATATATCACATATA CTGACATTTATATATATATCACACATATAT	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	13/19			chr10	TogoVar
ODF3L2_chr19_458361_479983	459237	CCCAGCGT others(51): Show CCCAGCGTAGGGGGAAGGACCCCTCTCAACTCGGTGTAGGGGGAAGGACC CCACTGAAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02976.hp2 HG03139.hp1 others(3): Show HG02818.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03486.hp1	a0002 a0006 a0002 a0006	a0002c0012 a0006c0010 a0002c0012 a0006c0010	a0002c0012t0002 a0006c0010t0004 a0002c0012t0002 a0006c0010t0004	a0002c0012t0002g0174 a0002c0012t0002g0175 a0006c0010t0004g0056 others(3): Show a0002c0012t0002g0174 a0002c0012t0002g0175 a0006c0010t0004g0056 a0006c0010t0004g0058 a0006c0010t0004g0168 a0006c0010t0004g0171	6	324	0.0185	-58	c.45 others(69): Show c.4549_*4606delCTTCAGTGGGGTCCTTCCCCCTACACCGAGTTGA GAGGGGTCCTTCCCCCTACGCTGG	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding		4123		chr19	TogoVar
ODF3L2_chr19_458361_479983	459412	CCAGCGTA others(51): Show CCAGCGTAGGGGGAAGGACCCCACTGAACCCAGCGTAGGGGGAAGGACCC CTCTCAACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0002 a0002c0016t0002	a0002c0016t0002g0048 a0002c0016t0002g0048	2	324	0.0062	-58	c.43 others(69): Show c.4374_*4431delAGTTGAGAGGGGTCCTTCCCCCTACGCTGGGTTC AGTGGGGTCCTTCCCCCTACGCTG	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding		3948		chr19	TogoVar
ODF3_chr11_191761_205258	191804	ACCCTAAC others(51): Show ACCCTAACCCTAACCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTA ACCCCTAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0024	1	388	0.0026	-58	c.-52 others(69): Show c.-5250_-5193delCCCTAACCCTAACCCCTAACCCCTAACCCTAACC CTAACCCTAACCCTAACCCCTAAC	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		4956		chr11	TogoVar
OPCML_chr11_132409981_133537501	133458268	ATATATAC others(51): Show ATATATACACACATATATACACGTGTGTGTATATATATACACATATATAC ACGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	68	0.0147	-58	c.61+ others(75): Show c.61+73938_61+73995delCACACACGTGTATATATGTGTATATATA TACACACACGTGTATATATGTGTGTATATA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPHN1_chrX_68037344_68438495	68325688	GTTTTCCT others(51): Show GTTTTCCTTATCCGTTTCCGTTTTCCTTTTCCTTTTCCGTTTTCCATTTC CTTTTCCAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02615.hp2 HG00099.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0091 a0001c0001t0003g0065 a0001c0001t0003g0091	2	155	0.0129	-58	c.155 others(77): Show c.155-26650_155-26593delATGGAAAAGGAAATGGAAAACGGAAA AGGAAAAGGAAAACGGAAACGGATAAGGAAAA	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPRL1_chr20_64075082_64105633	64093899	GGGCAGTG others(51): Show GGGCAGTGTGGGGGGGGGCAGTGTGGGGGCAGTGTGTGGGGACAGTGTGG GGGCAGTGT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	66	0.0152	-58	c.233 others(74): Show c.233+949_233+1006delCAGTGTGGGGGGGGGCAGTGTGGGGGCAG TGTGTGGGGACAGTGTGGGGGCAGTGTGG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OR10R2_chr1_158467220_158485936	158473777	TCCCTCCT others(51): Show TCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTTCCTCCCTCCTTCCCTCT TTCCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02572.hp2 others(5): Show HG01884.hp1 HG02109.hp1 HG02572.hp2 HG02630.hp2 HG02717.hp1 HG02970.hp1 NA18522.hp1 NA20129.hp2	a0002 a0011 a0002 a0011	a0002c0002 a0011c0012 a0002c0002 a0011c0012	a0002c0002t0001 a0011c0012t0001 a0002c0002t0001 a0011c0012t0001	a0002c0002t0001g0011 a0011c0012t0001g0062 a0002c0002t0001g0011 a0011c0012t0001g0062	8	446	0.0179	-58	c.27+ others(73): Show c.27+1426_27+1483delCCCTCCTTCCCTCTTTCCCTCTCTGCTTCC TTCCTCCCTCCTTCCCTCTTTCCCTCTC	OR10R2	ENSG00000198965.5	transcript	ENST00000641067.1	protein_coding	1/1			chr1	TogoVar
OR1A1_chr17_3202667_3223896	3221576	AATATATT others(51): Show AATATATTATATATTATTATATATTATATAATATATTATATAATATATTA TTATATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02970.hp1 HG02630.hp2 HG02970.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0006 a0004c0006t0006	a0004c0006t0006g0033 a0004c0006t0006g0033	2	434	0.0046	-58	c.50 others(69): Show c.5027_*5084delATATATTATATATTATTATATATTATATAATATA TTATATAATATATTATTATATATT	OR1A1	ENSG00000172146.4	transcript	ENST00000641732.2	protein_coding		2681		chr17	TogoVar
OR2T34_chr1_248568801_248579757	248578973	TATATATA others(51): Show TATATATATATATATATATATATATATACACACACACACACACACACACA CACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG03139.hp1 HG02055.hp2 HG03139.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0000 a0004c0010t0000	a0004c0010t0000g0000 a0004c0010t0000g0000	2	314	0.0064	-58	c.-42 others(69): Show c.-4274_-4217delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAT ATATATATATATATATATATATAT	OR2T34	ENSG00000183310.3	transcript	ENST00000328782.3	protein_coding		4217		chr1	TogoVar
OR2T34_chr1_248568801_248579757	248578975	TATATATA others(51): Show TATATATATATATATATATATATATACACACACACACACACACACACACA CACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02257.hp2 HG02723.hp1 others(3): Show HG01891.hp2 HG02257.hp2 HG02723.hp1 HG02970.hp2 HG03225.hp1 NA21309.hp2	a0004 a0008 a0015 a0004 a0008 a0015	a0004c0007 a0008c0008 a0015c0018 a0004c0007 a0008c0008 a0015c0018	a0004c0007t0000 a0008c0008t0000 a0015c0018t0000 a0004c0007t0000 a0008c0008t0000 a0015c0018t0000	a0004c0007t0000g0000 a0008c0008t0000g0000 a0015c0018t0000g0000 a0004c0007t0000g0000 a0008c0008t0000g0000 a0015c0018t0000g0000	6	314	0.0191	-58	c.-42 others(69): Show c.-4276_-4219delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT ATATATATATATATATATATATAT	OR2T34	ENSG00000183310.3	transcript	ENST00000328782.3	protein_coding		4219		chr1	TogoVar
OR6J1_chr14_22625929_22649352	22634881	GGATGAAA others(51): Show GGATGAAACCCCATGGCTGCTCACTAGAAAAATATGAACATAGAACATGA TGACTGCCA	G G	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	362	0.0028	-58	c.-27 others(72): Show c.-27-101_-27-44delTGGCAGTCATCATGTTCTATGTTCATATTTT TCTAGTGAGCAGCCATGGGGTTTCATC	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22636343	TCTCCCTC others(51): Show TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02965.hp2 HG03098.hp1 HG02818.hp1 HG02965.hp2 HG03098.hp1	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0002c0002 a0013c0016 a0001c0001 a0002c0002 a0013c0016	a0001c0001t0031 a0002c0002t0004 a0013c0016t0013 a0001c0001t0031 a0002c0002t0004 a0013c0016t0013	a0001c0001t0031g0245 a0002c0002t0004g0183 a0013c0016t0013g0271 a0001c0001t0031g0245 a0002c0002t0004g0183 a0013c0016t0013g0271	3	362	0.0083	-58	c.-27 others(75): Show c.-27-1563_-27-1506delGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OSBPL10_chr3_31655825_31986262	31812720	AAGAAAGA others(51): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0119 a0002c0004t0001g0119	1	186	0.0054	-58	c.729 others(77): Show c.729+17262_729+17319delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31812760	AAGAAAGA others(51): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01993.hp1 HG02015.hp2 others(6): Show HG01192.hp2 HG01993.hp1 HG02015.hp2 HG02622.hp2 HG02698.hp2 HG02809.hp1 HG03139.hp2 HG04184.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0036 others(2): Show a0001c0001 a0001c0002 a0001c0036 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0036t0002 a0002c0003t0001 a0002c0005t0002	a0001c0001t0001g0115 a0001c0001t0002g0156 a0001c0001t0003g0163 others(6): Show a0001c0001t0001g0115 a0001c0001t0002g0156 a0001c0001t0003g0163 a0001c0002t0001g0021 a0001c0002t0001g0123 a0001c0036t0002g0063 a0002c0003t0001g0065 a0002c0003t0001g0148 a0002c0005t0002g0050	9	186	0.0484	-58	c.729 others(77): Show c.729+17222_729+17279delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31812789	AGAAAGAA others(51): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA AGAAAGAAC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0033 a0002c0014t0001g0033	1	186	0.0054	-58	c.729 others(77): Show c.729+17193_729+17250delGTTCTTTCTTTCTTTCTTTCTTTCTT TCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31815138	AGAGAGAT others(51): Show AGAGAGATGCCCTGCCAGCCCCTGGCTTGCTCTTCCCGCCCTGAGACAAC ATGAACACC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(133): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18950.hp1 NA18950.hp2 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19086.hp1 NA19086.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0002 a0001c0006 others(28): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0010 a0001c0024 a0001c0026 a0001c0027 a0001c0028 a0001c0029 a0001c0036 a0001c0037 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0012 a0002c0014 a0002c0030 a0002c0035 a0002c0038 a0003c0008 a0003c0011 a0003c0013 a0003c0016 a0003c0018 a0003c0019 a0003c0021 a0003c0022 a0005c0032 a0006c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0006t0002 a0001c0009t0004 a0001c0009t0005 a0001c0010t0001 a0001c0010t0003 a0001c0024t0001 a0001c0026t0002 a0001c0027t0001 a0001c0028t0001 a0001c0029t0001 a0001c0036t0002 a0001c0037t0003 a0002c0003t0001 a0002c0003t0003 a0002c0004t0001 a0002c0004t0002 a0002c0004t0007 a0002c0005t0002 a0002c0005t0007 a0002c0007t0004 a0002c0007t0005 a0002c0012t0003 a0002c0014t0001 a0002c0014t0003 a0002c0030t0004 a0002c0035t0001 a0002c0038t0003 a0003c0008t0001 a0003c0008t0002 a0003c0011t0004 a0003c0011t0005 a0003c0013t0002 a0003c0016t0005 a0003c0018t0002 a0003c0019t0001 a0003c0021t0002 a0003c0022t0003 a0005c0032t0001 a0006c0034t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 others(133): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0133 a0001c0001t0001g0145 a0001c0001t0001g0155 a0001c0001t0002g0055 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0156 a0001c0001t0003g0163 a0001c0001t0006g0182 a0001c0001t0010g0183 a0001c0002t0001g0021 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0048 a0001c0002t0001g0051 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0064 a0001c0002t0001g0117 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0002t0001g0143 a0001c0002t0001g0154 a0001c0002t0003g0172 a0001c0002t0006g0181 a0001c0002t0008g0139 a0001c0006t0002g0017 a0001c0006t0002g0046 a0001c0006t0002g0056 a0001c0009t0004g0038 a0001c0009t0004g0052 a0001c0009t0005g0169 a0001c0010t0001g0102 a0001c0010t0003g0174 a0001c0024t0001g0016 a0001c0026t0002g0150 a0001c0027t0001g0044 a0001c0028t0001g0085 a0001c0029t0001g0054 a0001c0036t0002g0063 a0001c0037t0003g0180 a0002c0003t0001g0028 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0043 a0002c0003t0001g0045 a0002c0003t0001g0047 a0002c0003t0001g0049 a0002c0003t0001g0057 a0002c0003t0001g0065 a0002c0003t0001g0067 a0002c0003t0001g0078 a0002c0003t0001g0101 a0002c0003t0001g0105 a0002c0003t0001g0130 a0002c0003t0001g0148 a0002c0003t0003g0168 a0002c0003t0003g0173 a0002c0004t0001g0040 a0002c0004t0001g0069 a0002c0004t0001g0080 a0002c0004t0001g0109 a0002c0004t0001g0118 a0002c0004t0001g0119 a0002c0004t0001g0120 a0002c0004t0002g0025 a0002c0004t0002g0077 a0002c0004t0002g0153 a0002c0004t0007g0167 a0002c0005t0002g0026 a0002c0005t0002g0029 a0002c0005t0002g0030 a0002c0005t0002g0039 a0002c0005t0002g0050 a0002c0005t0002g0108 a0002c0005t0002g0116 a0002c0005t0007g0164 a0002c0005t0007g0171 a0002c0007t0004g0027 a0002c0007t0004g0036 a0002c0007t0004g0042 a0002c0007t0004g0136 a0002c0007t0005g0165 a0002c0012t0003g0176 a0002c0012t0003g0177 a0002c0012t0003g0178 a0002c0014t0001g0033 a0002c0014t0003g0166 a0002c0030t0004g0041 a0002c0035t0001g0134 a0002c0038t0003g0179 a0003c0008t0001g0001 a0003c0008t0001g0006 a0003c0008t0002g0005 a0003c0011t0004g0003 a0003c0011t0004g0014 a0003c0011t0005g0162 a0003c0013t0002g0012 a0003c0016t0005g0161 a0003c0018t0002g0002 a0003c0019t0001g0007 a0003c0021t0002g0013 a0003c0022t0003g0160 a0005c0032t0001g0096 a0006c0034t0001g0103	136	186	0.7312	-58	c.729 others(77): Show c.729+14844_729+14901delGGTGTTCATGTTGTCTCAGGGCGGGA AGAGCAAGCCAGGGGCTGGCAGGGCATCTCTC	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11			chr3	TogoVar
OSBPL5_chr11_3082107_3170310	3103706	ACCCCCTT others(51): Show ACCCCCTTCCAGGCTCTGCTGCCCCTTCCTGCCTCTGCAACCCTCTTCCA GCTCTGCAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01515.hp1 HG01884.hp2 others(24): Show HG01243.hp2 HG01515.hp1 HG01884.hp2 HG02109.hp2 HG02135.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp2 HG02572.hp2 HG02809.hp1 HG02886.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03516.hp1 HG03540.hp2 HG04115.hp2 HG04184.hp2 NA19030.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp2	a0001 a0006 a0007 others(2): Show a0001 a0006 a0007 a0010 a0012	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0006c0029 a0007c0027 a0010c0024 a0012c0028	a0001c0001t0008 a0001c0001t0012 a0001c0002t0005 others(13): Show a0001c0001t0008 a0001c0001t0012 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0013 a0001c0002t0020 a0001c0002t0025 a0001c0002t0032 a0001c0002t0038 a0001c0005t0008 a0001c0007t0005 a0006c0029t0005 a0007c0027t0009 a0010c0024t0005 a0012c0028t0001	a0001c0001t0008g0045 a0001c0001t0012g0132 a0001c0002t0005g0044 others(24): Show a0001c0001t0008g0045 a0001c0001t0012g0132 a0001c0002t0005g0044 a0001c0002t0005g0165 a0001c0002t0005g0286 a0001c0002t0008g0091 a0001c0002t0008g0209 a0001c0002t0008g0283 a0001c0002t0009g0005 a0001c0002t0009g0007 a0001c0002t0009g0070 a0001c0002t0009g0138 a0001c0002t0013g0020 a0001c0002t0013g0140 a0001c0002t0020g0185 a0001c0002t0025g0059 a0001c0002t0032g0126 a0001c0002t0038g0071 a0001c0005t0008g0065 a0001c0007t0005g0008 a0001c0007t0005g0042 a0001c0007t0005g0280 a0001c0007t0005g0281 a0006c0029t0005g0170 a0007c0027t0009g0006 a0010c0024t0005g0164 a0012c0028t0001g0014	27	326	0.0828	-58	c.124 others(75): Show c.1244+429_1245-387delCTGCAGAGCTGGAAGAGGGTTGCAGAGG CAGGAAGGGGCAGCAGAGCCTGGAAGGGGG	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	10/21			chr11	TogoVar
OSBPL5_chr11_3082107_3170310	3103727	CCCCTTCC others(51): Show CCCCTTCCTGCCTCTGCAACCCTCTTCCAGCTCTGCAGCCCCCTTCCAGC CTCTGCAGT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0034 a0002c0003t0034	a0002c0003t0034g0264 a0002c0003t0034g0264	1	326	0.0031	-58	c.124 others(75): Show c.1244+408_1245-408delACTGCAGAGGCTGGAAGGGGGCTGCAGA GCTGGAAGAGGGTTGCAGAGGCAGGAAGGG	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	10/21			chr11	TogoVar
OSBPL5_chr11_3082107_3170310	3111999	GTGTGTGT others(51): Show GTGTGTGTGTGCGCGCATGTGTGTGCATGTGTGTGTATGTGTGCGCGCAT GTGTGTGCA	G G	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	326	0.0031	-58	c.692 others(75): Show c.692-4112_692-4055delTGCACACACATGCGCGCACACATACACA CACATGCACACACATGCGCGCACACACACA	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	7/21			chr11	TogoVar
OSGEPL1_chr2_189741660_189767792	189742865	GACACACA others(51): Show GACACACACACACACACACACACACACACTAGAATTACCTGACACACACA CACACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	358	0.0028	-58	c.42 others(69): Show c.4274_*4331delGTGTGTGTGTGTGTGTGTCAGGTAATTCTAGTGT GTGTGTGTGTGTGTGTGTGTGTGT	OSGEPL1	ENSG00000128694.12	transcript	ENST00000264151.10	protein_coding		3794		chr2	TogoVar
OSGIN1_chr16_83948240_83971332	83950683	ACACACGT others(51): Show ACACACGTACACACACATGCACACGTGAGCACATGTGCACACATGCACAT ACATACTGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG03453.hp2 HG01243.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0007t0003 a0001c0001t0003 a0001c0007t0003	a0001c0001t0003g0182 a0001c0007t0003g0175 a0001c0001t0003g0182 a0001c0007t0003g0175	2	350	0.0057	-58	c.-27 others(69): Show c.-2719_-2662delCACACGTACACACACATGCACACGTGAGCACATG TGCACACATGCACATACATACTGG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2556		chr16	TogoVar
OTUD7A_chr15_31470398_31875673	31511191	CACATATG others(51): Show CACATATGTATATCTATATGTAACACACATACATATGTATATCTATATGT AACACACAT	C C	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0141 a0002c0003t0003g0141	1	244	0.0041	-58	c.894 others(75): Show c.894-7431_894-7374delATGTGTGTTACATATAGATATACATATG TATGTGTGTTACATATAGATATACATATGT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OVOL2_chr20_18019163_18062916	18022350	AAGGTGTA others(51): Show AAGGTGTAGGTGATGGGGTATAGATGATTGAGGTGTAGGTGATGGGGTAT AGATGATCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	386	0.0026	-58	c.22 others(69): Show c.2228_*2285delCGATCATCTATACCCCATCACCTACACCTCAATC ATCTATACCCCATCACCTACACCT	OVOL2	ENSG00000125850.11	transcript	ENST00000278780.7	protein_coding		1812		chr20	TogoVar
OXR1_chr8_106265190_106757694	106694578	AATGTTTA others(51): Show AATGTTTATATATATTTGATATATAAATATATGTTTATATATATTTGATA TATAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0058 a0005c0009t0001g0058	1	172	0.0058	-58	c.675 others(75): Show c.675+1743_675+1800delATTTGATATATAAATATATGTTTATATA TATTTGATATATAAATATATGTTTATATAT	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
PABPC1L_chr20_44905060_44944316	44931108	CGTGGGGT others(51): Show CGTGGGGTCTCCATGTCACCCAGGCTGGTGAGCAATGGCGTGATCATGGC TCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	396	0.0025	-58	c.123 others(75): Show c.1239+383_1239+440delGTGGGGTCTCCATGTCACCCAGGCTGGT GAGCAATGGCGTGATCATGGCTCCTTCCTT	PABPC1L	ENSG00000101104.13	transcript	ENST00000217073.7	protein_coding	8/14			chr20	TogoVar
PACSIN2_chr22_42864773_43020149	42896342	GTCACTCT others(51): Show GTCACTCTTTCTTACTGCTAAGTAGTATTCGATTGTGTAGTTATGCCACT ATCAGAAGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(80): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00642.hp1 HG00733.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03017.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03491.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18940.hp2 NA18952.hp2 NA18982.hp2 NA18990.hp1 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19063.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004 a0003c0006	a0001c0001t0013 a0001c0002t0003 a0001c0002t0007 others(9): Show a0001c0001t0013 a0001c0002t0003 a0001c0002t0007 a0001c0002t0022 a0001c0003t0003 a0001c0003t0009 a0001c0003t0010 a0001c0005t0005 a0001c0005t0023 a0002c0004t0003 a0003c0006t0003 a0003c0006t0021	a0001c0001t0013g0130 a0001c0002t0003g0003 a0001c0002t0003g0005 others(80): Show a0001c0001t0013g0130 a0001c0002t0003g0003 a0001c0002t0003g0005 a0001c0002t0003g0007 a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0003g0010 a0001c0002t0003g0011 a0001c0002t0003g0012 a0001c0002t0003g0013 a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0027 a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0083 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0162 a0001c0002t0003g0168 a0001c0002t0003g0240 a0001c0002t0003g0264 a0001c0002t0003g0266 a0001c0002t0003g0269 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0273 a0001c0002t0003g0274 a0001c0002t0003g0275 a0001c0002t0003g0276 a0001c0002t0003g0277 a0001c0002t0003g0278 a0001c0002t0003g0279 a0001c0002t0003g0280 a0001c0002t0007g0267 a0001c0002t0007g0268 a0001c0002t0007g0272 a0001c0002t0022g0018 a0001c0003t0003g0028 a0001c0003t0009g0080 a0001c0003t0009g0085 a0001c0003t0010g0071 a0001c0003t0010g0125 a0001c0005t0005g0282 a0001c0005t0005g0283 a0001c0005t0005g0284 a0001c0005t0005g0285 a0001c0005t0005g0286 a0001c0005t0023g0281 a0002c0004t0003g0166 a0002c0004t0003g0167 a0002c0004t0003g0169 a0002c0004t0003g0170 a0002c0004t0003g0171 a0002c0004t0003g0188 a0002c0004t0003g0248 a0002c0004t0003g0249 a0002c0004t0003g0250 a0002c0004t0003g0255 a0003c0006t0003g0004 a0003c0006t0021g0006	83	294	0.2823	-58	c.61- others(73): Show c.61-2787_61-2730delACTTCTGATAGTGGCATAACTACACAATCG AATACTACTTAGCAGTAAGAAAGAGTGA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	2/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42896386	GCCACTAT others(51): Show GCCACTATCAGAAGTTCACTCTTTCTTACTGCTAAGTAGTATTCGACTGT GTAGGTATA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	294	0.0034	-58	c.61- others(73): Show c.61-2831_61-2774delTATACCTACACAGTCGAATACTACTTAGCA GTAAGAAAGAGTGAACTTCTGATAGTGG	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	2/10			chr22	TogoVar
PAG1_chr8_80962810_81117068	80998026	GTCCATAC others(51): Show GTCCATACTCTCTTACCCTTTTATATCCACTAATTTGTTTTAATGCATAA GTGATTTAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0042 a0002c0005t0042	a0002c0005t0042g0170 a0002c0005t0042g0170	1	256	0.0039	-58	c.-80 others(75): Show c.-80-4777_-80-4720delTTAAATCACTTATGCATTAAAACAAATT AGTGGATATAAAAGGGTAAGAGAGTATGGA	PAG1	ENSG00000076641.4	transcript	ENST00000220597.4	protein_coding	3/8			chr8	TogoVar
PAGE1_chrX_49682447_49700984	49689804	ATGTGTAT others(51): Show ATGTGTATATACACACATATATGTGTATATATGTGTGTATATACACACAT ATATAGGTG	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	322	0.0031	-58	c.293 others(73): Show c.293-319_293-262delCACCTATATATGTGTGTATATACACACATA TATACACATATATGTGTGTATATACACA	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PALLD_chr4_168492052_168933441	168693069	TCCTACAT others(51): Show TCCTACATACGCTCCTTCTGTTTCAGATCTCCCCCGCGCCCTGCATCTTC ATCACTTAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0097 a0001c0001t0005g0097	1	156	0.0064	-58	c.150 others(77): Show c.1501+1787_1501+1844delGCTCCTTCTGTTTCAGATCTCCCCCG CGCCCTGCATCTTCATCACTTACCCTACATAC	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALMD_chr1_99641113_99699535	99683030	AAGAAAGA others(51): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00741.hp2 HG01070.hp2 others(27): Show HG00621.hp2 HG00741.hp2 HG01070.hp2 HG01175.hp1 HG01192.hp1 HG01257.hp1 HG01891.hp1 HG01975.hp1 HG02004.hp1 HG02148.hp1 HG02258.hp1 HG02451.hp1 HG02717.hp2 HG02723.hp1 HG02922.hp2 HG03139.hp1 HG03471.hp1 HG03491.hp2 HG03654.hp1 HG04199.hp1 NA18941.hp2 NA18964.hp2 NA18967.hp1 NA18978.hp1 NA18984.hp2 NA19058.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19091.hp1	a0001 a0010 a0011 a0001 a0010 a0011	a0001c0001 a0001c0012 a0010c0014 others(1): Show a0001c0001 a0001c0012 a0010c0014 a0011c0015	a0001c0001t0001 a0001c0001t0002 a0001c0012t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0012t0001 a0010c0014t0001 a0011c0015t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0018 others(25): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0055 a0001c0001t0001g0072 a0001c0001t0001g0155 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0228 a0001c0001t0001g0274 a0001c0001t0001g0282 a0001c0001t0001g0299 a0001c0001t0001g0318 a0001c0001t0001g0327 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0366 a0001c0001t0001g0368 a0001c0001t0002g0343 a0001c0012t0001g0258 a0010c0014t0001g0271 a0011c0015t0001g0139	30	380	0.0790	-58	c.252 others(75): Show c.252-3618_252-3561delGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGAAAGAAAGAAAGAAAGAAAGA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALMD_chr1_99641113_99699535	99683078	GAGAGAGA others(51): Show GAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0300 a0001c0002t0001g0300	1	380	0.0026	-58	c.252 others(75): Show c.252-3594_252-3537delGAGAGAGAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAQR5_chr15_69293912_69412780	69300890	TTTCTTCC others(51): Show TTTCTTCCTTCCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTCTCTCTCTC TTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02809.hp1 others(3): Show HG02280.hp2 HG02486.hp1 HG02809.hp1 NA18522.hp2 NA18971.hp2 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0002c0002t0009	a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0096 others(3): Show a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0096 a0001c0001t0005g0046 a0002c0002t0001g0044 a0002c0002t0009g0050	6	284	0.0211	-58	c.-27 others(77): Show c.-277+1840_-277+1897delCCTTCCTTCCTTCCTTCCTTTCTCTC TCTCTCTCTCTCTCTCTCTTTCTTTCCTTCTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300896	CCTTCCTT others(51): Show CCTTCCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTCTCTCTCTCTTTCTT TCCTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA18999.hp2 NA20300.hp2 HG00733.hp2 NA18999.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0086 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0086	3	284	0.0106	-58	c.-27 others(77): Show c.-277+1844_-277+1901delCCTTCCTTCCTTCCTTTCTCTCTCTC TCTCTCTCTCTCTCTTTCTTTCCTTCTTTCTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD3B_chr2_204540475_205625162	205217520	ACAGAGAA others(51): Show ACAGAGAAGCTAGTGAAGGAACAAGATGCAGGAAGGAGACACCCAGAGAG AAGAATAAC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0054 a0001c0008t0001g0054	1	54	0.0185	-58	c.214 others(79): Show c.2140+24252_2140+24309delGAATAACCAGAGAAGCTAGTGAAG GAACAAGATGCAGGAAGGAGACACCCAGAGAGAA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3_chr10_34104561_34820296	34750270	AAAAACAA others(51): Show AAAAACAAATAAAACAGTATATCTAATTCAGAAAAGGTCAAACATATATT AATCTATGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0098 a0001c0001t0005g0098	1	100	0.0100	-58	c.121 others(77): Show c.121-53909_121-53852delCCATAGATTAATATATGTTTGACCTT TTCTGAATTAGATATACTGTTTTATTTGTTTT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	1/24			chr10	TogoVar
PARVA_chr11_12372571_12540356	12474745	AAATACAA others(51): Show AAATACAAAAAGTAGCCAAGTGTGGTGGCGCATGACTGTAATCCCAGACC ATCTCTACT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0260 a0001c0001t0009g0260	1	286	0.0035	-58	c.297 others(73): Show c.297+765_297+822delTACAAAAAGTAGCCAAGTGTGGTGGCGCAT GACTGTAATCCCAGACCATCTCTACTAA	PARVA	ENSG00000197702.14	transcript	ENST00000334956.15	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PATL1_chr11_59631716_59674037	59672310	CTATATAT others(51): Show CTATATATATATATATATATATATATATATATATATATATATATATGGTT TTTTTTGTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 NA19240.hp1 HG02895.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0016 a0001c0001t0001g0043	2	276	0.0073	-58	c.-34 others(69): Show c.-3473_-3416delTACAAAAAAAACCATATATATATATATATATATA TATATATATATATATATATATATA	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		3274		chr11	TogoVar

Search by Variant

Search

Search Results