#Uploaded_variation Location Allele Consequence IMPACT SYMBOL

Gene Feature_type Feature BIOTYPE EXON INTRON HGVSc HGVSp

cDNA_position CDS_position Protein_position Amino_acids Codons
Existing_variation DISTANCE STRAND FLAGS SYMBOL_SOURCE
HGNC_ID MANE_SELECT MANE_PLUS_CLINICAL TSL APPRIS SIFT
PolyPhen AF CLIN_SIG SOMATIC PHENO PUBMED MOTIF_NAME
MOTIF_POS HIGH_INF_POS MOTIF_SCORE_CHANGE TRANSCRIPTION_FACTORS
151261626 1:151261626-151261626 G intron_variant MODIFIER PSMD4
ENSG00000159352 Transcript ENST00000368881.8 protein_coding - 1/9
- - - - - - - - - 1 - HGNC
HGNC:9561 - - 5 A1 - - - - - - -
- - - - -
151261626 1:151261626-151261626 G intron_variant MODIFIER PSMD4
ENSG00000159352 Transcript ENST00000368884.8 protein_coding - 1/9
- - - - - - - - - 1 - HGNC
HGNC:9561 NM_002810.4 - 1 P4 - - - - - -
- - - - - -
151261626 1:151261626-151261626 G upstream_gene_variant MODIFIER PSMD4
ENSG00000159352 Transcript ENST00000427779.5 nonsense_mediated_decay -
- - - - - - - - - 4412 1 cds_start_NF
HGNC HGNC:9561 - - 3 - - - - - - -
- - - - - -
151261626 1:151261626-151261626 G intron_variant MODIFIER PSMD4
ENSG00000159352 Transcript ENST00000437736.5 protein_coding - 1/5
- - - - - - - - - 1 cds_end_NF HGNC
HGNC:9561 - - 5 - - - - - - - -
- - - - -
151261626 1:151261626-151261626 G upstream_gene_variant MODIFIER PSMD4
ENSG00000159352 Transcript ENST00000445776.1 protein_coding - -
- - - - - - - - 3262 1 cds_start_NF
HGNC HGNC:9561 - - 3 - - - - - - -
- - - - - -
151261626 1:151261626-151261626 G upstream_gene_variant MODIFIER PSMD4
ENSG00000159352 Transcript ENST00000453615.1 protein_coding - -
- - - - - - - - 4918 1 cds_start_NF
HGNC HGNC:9561 - - 3 - - - - - - -
- - - - - -
151261626 1:151261626-151261626 G
intron_variant,non_coding_transcript_variant MODIFIER PSMD4
ENSG00000159352 Transcript ENST00000461434.1 retained_intron - 1/1
- - - - - - - - - 1 - HGNC
HGNC:9561 - - 2 - - - - - - - -
- - - - -
151261626 1:151261626-151261626 G
intron_variant,non_coding_transcript_variant MODIFIER PSMD4
ENSG00000159352 Transcript ENST00000462970.5 retained_intron - 1/4
- - - - - - - - - 1 - HGNC
HGNC:9561 - - 5 - - - - - - - -
- - - - -
151261626 1:151261626-151261626 G upstream_gene_variant MODIFIER PSMD4
ENSG00000159352 Transcript ENST00000469786.2
protein_coding_CDS_not_defined - - - - - - -
- - - 934 1 - HGNC HGNC:9561 - - 5 -
- - - - - - - - - - - -
151261626 1:151261626-151261626 G upstream_gene_variant MODIFIER PSMD4
ENSG00000159352 Transcript ENST00000470396.1 retained_intron - -
- - - - - - - - 4682 1 - HGNC
HGNC:9561 - - 1 - - - - - - - -
- - - - -
151261626 1:151261626-151261626 G
intron_variant,non_coding_transcript_variant MODIFIER PSMD4
ENSG00000159352 Transcript ENST00000476855.5 retained_intron - 1/8
- - - - - - - - - 1 - HGNC
HGNC:9561 - - 2 - - - - - - - -
- - - - -
151261626 1:151261626-151261626 G upstream_gene_variant MODIFIER PSMD4
ENSG00000159352 Transcript ENST00000491857.1 retained_intron - -
- - - - - - - - 3618 1 - HGNC
HGNC:9561 - - 2 - - - - - - - -
- - - - -
151378722 1:151378722-151378722 C intergenic_variant MODIFIER -
- - - - - - - - - - - - -
- - - - - - - - - - - - - -
- - - - - - - -
154991066 1:154991066-154991066 G intron_variant MODIFIER FLAD1
ENSG00000160688 Transcript ENST00000292180.8 protein_coding - 5/6
- - - - - - - - - 1 - HGNC
HGNC:24671 NM_025207.5 - 1 - - - - - - -
- - - - - -
154991066 1:154991066-154991066 G intron_variant MODIFIER FLAD1
ENSG00000160688 Transcript ENST00000295530.6 protein_coding - 2/3
- - - - - - - - - 1 - HGNC
HGNC:24671 - - 1 - - - - - - - -
- - - - -
154991066 1:154991066-154991066 G intron_variant MODIFIER FLAD1
ENSG00000160688 Transcript ENST00000315144.14 protein_coding -
6/7 - - - - - - - - - 1 - HGNC
HGNC:24671 - - 1 P1 - - - - - - -
- - - - -
154991066 1:154991066-154991066 G upstream_gene_variant MODIFIER LENEP
ENSG00000163352 Transcript ENST00000368427.3 nonsense_mediated_decay -
- - - - - - - - - 2520 1 - HGNC
HGNC:14429 - - 1 - - - - - - - -
- - - - -
154991066 1:154991066-154991066 G intron_variant MODIFIER FLAD1
ENSG00000160688 Transcript ENST00000368428.1 protein_coding - 3/4
- - - - - - - - - 1 - HGNC
HGNC:24671 - - 3 - - - - - - - -
- - - - -
154991066 1:154991066-154991066 G downstream_gene_variant MODIFIER FLAD1
ENSG00000160688 Transcript ENST00000368431.7 protein_coding - -
- - - - - - - - 2054 1 - HGNC
HGNC:24671 - - 1 - - - - - - - -
- - - - -
154991066 1:154991066-154991066 G intron_variant MODIFIER FLAD1
ENSG00000160688 Transcript ENST00000368432.5 protein_coding - 6/6
- - - - - - - - - 1 - HGNC
HGNC:24671 - - 1 - - - - - - - -
- - - - -
154991066 1:154991066-154991066 G 3_prime_UTR_variant MODIFIER FLAD1
ENSG00000160688 Transcript ENST00000368433.5 protein_coding 4/4 -
- - 2516 - - - - - - 1 - HGNC
HGNC:24671 - - 2 - - - - - - - -
- - - - -
154991066 1:154991066-154991066 G upstream_gene_variant MODIFIER LENEP
ENSG00000163352 Transcript ENST00000392487.2 protein_coding - -
- - - - - - - - 2520 1 - HGNC
HGNC:14429 NM_001394530.1 - - P1 - - - - -
 - - - - - - -
154991066 1:154991066-154991066 G
intron_variant,non_coding_transcript_variant MODIFIER FLAD1
ENSG00000160688 Transcript ENST00000477609.5
protein_coding_CDS_not_defined - 2/3 - - - - -
- - - - 1 - HGNC HGNC:24671 - - 5 -
- - - - - - - - - - - -
154991066 1:154991066-154991066 G upstream_gene_variant MODIFIER FLAD1
ENSG00000160688 Transcript ENST00000481758.1
protein_coding_CDS_not_defined - - - - - - -
- - - 1523 1 - HGNC HGNC:24671 - - 2 -
- - - - - - - - - - - -
154991066 1:154991066-154991066 G downstream_gene_variant MODIFIER FLAD1
ENSG00000160688 Transcript ENST00000487371.1
protein_coding_CDS_not_defined - - - - - - -
- - - 2633 1 - HGNC HGNC:24671 - - 3 -
- - - - - - - - - - - -
154991066 1:154991066-154991066 G
intron_variant,non_coding_transcript_variant MODIFIER FLAD1
ENSG00000160688 Transcript ENST00000489992.5
protein_coding_CDS_not_defined - 2/3 - - - - -
- - - - 1 - HGNC HGNC:24671 - - 2 -
- - - - - - - - - - - -
154991066 1:154991066-154991066 G downstream_gene_variant MODIFIER FLAD1
ENSG00000160688 Transcript ENST00000492620.1
protein_coding_CDS_not_defined - - - - - - -
- - - 2934 1 - HGNC HGNC:24671 - - 3 -
- - - - - - - - - - - -
156035717 1:156035717-156035717 G 3_prime_UTR_variant MODIFIER UBQLN4
ENSG00000160803 Transcript ENST00000368309.4 protein_coding 11/11 -
- - 3164 - - - - - - -1 - HGNC
HGNC:1237 NM_020131.5 - 1 P1 - - - - - -
- - - - - -
156035717 1:156035717-156035717 G downstream_gene_variant MODIFIER -
ENSG00000285677 Transcript ENST00000650235.1 lncRNA - - -
- - - - - - - 2810 1 - - - -
- - - - - - - - - - - - -
- -
156035717 1:156035717-156035717 G downstream_gene_variant MODIFIER -
ENSG00000285677 Transcript ENST00000664369.1 lncRNA - - -
- - - - - - - 2375 1 - - - -
- - - - - - - - - - - - -
- -
156035717 1:156035717-156035717 G downstream_gene_variant MODIFIER -
ENSG00000285677 Transcript ENST00000671325.1 lncRNA - - -
- - - - - - - 2375 1 - - - -
- - - - - - - - - - - - -
- -
156035717 1:156035717-156035717 G regulatory_region_variant MODIFIER
- - RegulatoryFeature ENSR00000931396 enhancer - - -
- - - - - - - - - - - - -
- - - - - - - - - - - - - -
-
169698643 1:169698643-169698643 G intron_variant MODIFIER SELL
ENSG00000188404 Transcript ENST00000236147.6 protein_coding - 7/8
- - - - - - - - - -1 - HGNC
HGNC:10720 NM_000655.5 - 1 P1 - - - - - -
- - - - - -
169698643 1:169698643-169698643 G downstream_gene_variant MODIFIER SELL
 ENSG00000188404 Transcript ENST00000460650.5
protein_coding_CDS_not_defined - - - - - - -
- - - 4462 -1 - HGNC HGNC:10720 - - 2 -
- - - - - - - - - - - -
169698643 1:169698643-169698643 G downstream_gene_variant MODIFIER SELL
ENSG00000188404 Transcript ENST00000463108.5 retained_intron - -
- - - - - - - - 2852 -1 - HGNC
HGNC:10720 - - 1 - - - - - - - -
- - - - -
169698643 1:169698643-169698643 G downstream_gene_variant MODIFIER SELL
ENSG00000188404 Transcript ENST00000479657.5
protein_coding_CDS_not_defined - - - - - - -
- - - 4674 -1 - HGNC HGNC:10720 - - 5 -
- - - - - - - - - - - -
169698643 1:169698643-169698643 G intron_variant MODIFIER SELL
ENSG00000188404 Transcript ENST00000497295.1 protein_coding - 1/2
- - - - - - - - - -1 cds_start_NF
HGNC HGNC:10720 - - 5 - - - - - - -
- - - - - -
169698643 1:169698643-169698643 G
intron_variant,non_coding_transcript_variant MODIFIER C1orf112
ENSG00000000460 Transcript ENST00000498289.5
protein_coding_CDS_not_defined - 3/28 - - - - -
- - - - 1 - HGNC HGNC:25565 - - 2 -
- - - - - - - - - - - -
169698643 1:169698643-169698643 G intron_variant MODIFIER SELL
ENSG00000188404 Transcript ENST00000650983.1 protein_coding - 7/8
- - - - - - - - - -1 - HGNC
HGNC:10720 - - - - - - - - - - -
- - - - -
169822088 1:169822088-169822088 C intron_variant MODIFIER C1orf112
ENSG00000000460 Transcript ENST00000286031.10 protein_coding -
9/23 - - - - - - - - - 1 - HGNC
HGNC:25565 - - 1 P1 - - - - - - -
- - - - -
169822088 1:169822088-169822088 C intron_variant MODIFIER C1orf112
ENSG00000000460 Transcript ENST00000359326.9 protein_coding - 10/24
- - - - - - - - - 1 - HGNC
HGNC:25565 NM_001320047.2 - 1 P1 - - - - -
- - - - - - -
169822088 1:169822088-169822088 C intron_variant MODIFIER C1orf112
ENSG00000000460 Transcript ENST00000413811.3 protein_coding - 8/22
- - - - - - - - - 1 - HGNC
HGNC:25565 - - 1 - - - - - - - -
- - - - -
169822088 1:169822088-169822088 C intron_variant,NMD_transcript_variant
MODIFIER C1orf112 ENSG00000000460 Transcript ENST00000459772.5
nonsense_mediated_decay - 8/22 - - - - - - -
- - 1 - HGNC HGNC:25565 - - 2 - - -
- - - - - - - - - -
169822088 1:169822088-169822088 C downstream_gene_variant MODIFIER
C1orf112 ENSG00000000460 Transcript ENST00000466580.6
nonsense_mediated_decay - - - - - - - - -
- 369 1 - HGNC HGNC:25565 - - 4 - - -
- - - - - - - - - -
169822088 1:169822088-169822088 C
intron_variant,non_coding_transcript_variant MODIFIER C1orf112
ENSG00000000460 Transcript ENST00000498289.5
protein_coding_CDS_not_defined - 13/28 - - - - -
 - - - - 1 - HGNC HGNC:25565 - - 2 -
- - - - - - - - - - - -
249208078 1:249208078-249208078 C intergenic_variant MODIFIER -
- - - - - - - - - - - - -
- - - - - - - - - - - - - -
- - - - - - - -
59210644 11:59210644-59210644 A downstream_gene_variant MODIFIER DTX4
ENSG00000110042 Transcript ENST00000227451.4 protein_coding - -
- - - - - - - - 2056 1 - HGNC
HGNC:29151 NM_015177.2 - 1 P1 - - - - - -
- - - - - -
59210644 11:59210644-59210644 A 3_prime_UTR_variant MODIFIER MPEG1
ENSG00000197629 Transcript ENST00000361050.4 protein_coding 1/1 -
- - 2284 - - - - - - -1 - HGNC
HGNC:29619 NM_001039396.2 - - P1 - - - - -
- - - - - - -
59210644 11:59210644-59210644 A downstream_gene_variant MODIFIER
RN7SL42P ENSG00000263999 Transcript ENST00000579786.2 misc_RNA -
- - - - - - - - - 3762 -1 - HGNC
HGNC:46058 - - - - - - - - - - -
- - - - -
59210644 11:59210644-59210644 A regulatory_region_variant MODIFIER
- - RegulatoryFeature ENSR00000040030 promoter - - -
- - - - - - - - - - - - -
- - - - - - - - - - - - - -
-
63743706 11:63743706-63743706 A intron_variant MODIFIER RTN3
ENSG00000133318 Transcript ENST00000339997.8 protein_coding - 2/7
- - - - - - - - - 1 - HGNC
HGNC:10469 - - 1 - - - - - - - -
- - - - -
63743706 11:63743706-63743706 A intron_variant MODIFIER RTN3
ENSG00000133318 Transcript ENST00000341307.6 protein_coding - 1/5
- - - - - - - - - 1 - HGNC
HGNC:10469 - - 2 - - - - - - - -
- - - - -
63743706 11:63743706-63743706 A intron_variant MODIFIER RTN3
ENSG00000133318 Transcript ENST00000354497.4 protein_coding - 1/3
- - - - - - - - - 1 - HGNC
HGNC:10469 - - 2 - - - - - - - -
- - - - -
63743706 11:63743706-63743706 A intron_variant MODIFIER RTN3
ENSG00000133318 Transcript ENST00000356000.7 protein_coding - 2/7
- - - - - - - - - 1 - HGNC
HGNC:10469 - - 2 - - - - - - - -
- - - - -
63743706 11:63743706-63743706 A intron_variant MODIFIER RTN3
ENSG00000133318 Transcript ENST00000377819.10 protein_coding -
3/8 - - - - - - - - - 1 - HGNC
HGNC:10469 NM_001265589.2 - 1 - - - - - -
- - - - - - -
63743706 11:63743706-63743706 A intron_variant,NMD_transcript_variant
MODIFIER RTN3 ENSG00000133318 Transcript ENST00000536011.5
nonsense_mediated_decay - 1/4 - - - - - - -
- - 1 - HGNC HGNC:10469 - - 2 - - -
- - - - - - - - - -
63743706 11:63743706-63743706 A intron_variant MODIFIER RTN3
ENSG00000133318 Transcript ENST00000537981.5 protein_coding - 1/6
- - - - - - - - - 1 - HGNC
 HGNC:10469 - - 1 P1 - - - - - - -
- - - - -
63743706 11:63743706-63743706 A intron_variant MODIFIER RTN3
ENSG00000133318 Transcript ENST00000540798.5 protein_coding - 2/7
- - - - - - - - - 1 - HGNC
HGNC:10469 - - 1 - - - - - - - -
- - - - -
63743706 11:63743706-63743706 A intron_variant MODIFIER RTN3
ENSG00000133318 Transcript ENST00000542238.5 protein_coding - 1/3
- - - - - - - - - 1 cds_end_NF HGNC
HGNC:10469 - - 3 - - - - - - - -
- - - - -
63743706 11:63743706-63743706 A
intron_variant,non_coding_transcript_variant MODIFIER RTN3
ENSG00000133318 Transcript ENST00000543123.1 retained_intron - 1/1
- - - - - - - - - 1 - HGNC
HGNC:10469 - - 2 - - - - - - - -
- - - - -
64067166 11:64067166-64067166 C intron_variant MODIFIER MACROD1
ENSG00000133315 Transcript ENST00000255681.7 protein_coding - 3/10
- - - - - - - - - -1 - HGNC
HGNC:29598 NM_014067.4 - 1 P2 - - - - - -
- - - - - -
64067166 11:64067166-64067166 C
intron_variant,non_coding_transcript_variant MODIFIER -
ENSG00000256824 Transcript ENST00000537170.1 lncRNA - 1/1 -
- - - - - - - - 1 - - - -
- 4 - - - - - - - - - - -
- -
64067166 11:64067166-64067166 C
intron_variant,non_coding_transcript_variant MODIFIER -
ENSG00000256824 Transcript ENST00000538550.1 lncRNA - 1/1 -
- - - - - - - - 1 - - - -
- 4 - - - - - - - - - - -
- -
64067166 11:64067166-64067166 C
intron_variant,non_coding_transcript_variant MODIFIER MACROD1
ENSG00000133315 Transcript ENST00000542359.5
protein_coding_CDS_not_defined - 3/4 - - - - -
- - - - -1 - HGNC HGNC:29598 - - 3 -
- - - - - - - - - - - -
64067166 11:64067166-64067166 C
intron_variant,non_coding_transcript_variant MODIFIER MACROD1
ENSG00000133315 Transcript ENST00000543422.5
protein_coding_CDS_not_defined - 1/5 - - - - -
- - - - -1 - HGNC HGNC:29598 - - 3 -
- - - - - - - - - - - -
64067166 11:64067166-64067166 C
intron_variant,non_coding_transcript_variant MODIFIER MACROD1
ENSG00000133315 Transcript ENST00000545464.5 retained_intron - 3/3
- - - - - - - - - -1 - HGNC
HGNC:29598 - - 3 - - - - - - - -
- - - - -
64067166 11:64067166-64067166 C intron_variant MODIFIER MACROD1
ENSG00000133315 Transcript ENST00000675777.1 protein_coding - 3/9
- - - - - - - - - -1 - HGNC
HGNC:29598 - - - A2 - - - - - - -
- - - - -
64067166 11:64067166-64067166 C intron_variant MODIFIER FLRT1
 ENSG00000126500 Transcript ENST00000682287.1 protein_coding - 1/2
- - - - - - - - - 1 - HGNC
HGNC:3760 NM_013280.5 - - P1 - - - - - -
- - - - - -
74015414 11:74015414-74015414 C intron_variant MODIFIER C2CD3
ENSG00000168014 Transcript ENST00000334126.12 protein_coding -
32/32 - - - - - - - - - -1 - HGNC
HGNC:24564 NM_001286577.2 - 5 P2 - - - - -
- - - - - - -
74015414 11:74015414-74015414 C intron_variant,NMD_transcript_variant
MODIFIER C2CD3 ENSG00000168014 Transcript ENST00000442398.7
nonsense_mediated_decay - 32/32 - - - - - - -
- - -1 - HGNC HGNC:24564 - - 2 - - -
- - - - - - - - - -
74015414 11:74015414-74015414 C
intron_variant,non_coding_transcript_variant MODIFIER C2CD3
ENSG00000168014 Transcript ENST00000538625.2
protein_coding_CDS_not_defined - 9/9 - - - - -
- - - - -1 - HGNC HGNC:24564 - - 2 -
- - - - - - - - - - - -
74015414 11:74015414-74015414 C intron_variant,NMD_transcript_variant
MODIFIER C2CD3 ENSG00000168014 Transcript ENST00000679415.1
nonsense_mediated_decay - 31/31 - - - - - - -
- - -1 - HGNC HGNC:24564 - - - - - -
- - - - - - - - - -
74015414 11:74015414-74015414 C intron_variant MODIFIER C2CD3
ENSG00000168014 Transcript ENST00000679906.1 protein_coding - 31/31
- - - - - - - - - -1 - HGNC
HGNC:24564 - - - A2 - - - - - - -
- - - - -
74015414 11:74015414-74015414 C intron_variant MODIFIER C2CD3
ENSG00000168014 Transcript ENST00000680231.1 protein_coding - 32/32
- - - - - - - - - -1 - HGNC
HGNC:24564 - - - A2 - - - - - - -
- - - - -
74015414 11:74015414-74015414 C intron_variant,NMD_transcript_variant
MODIFIER C2CD3 ENSG00000168014 Transcript ENST00000680665.1
nonsense_mediated_decay - 33/33 - - - - - - -
- - -1 - HGNC HGNC:24564 - - - - - -
- - - - - - - - - -
74015414 11:74015414-74015414 C intron_variant,NMD_transcript_variant
MODIFIER C2CD3 ENSG00000168014 Transcript ENST00000680839.1
nonsense_mediated_decay - 30/30 - - - - - - -
- - -1 - HGNC HGNC:24564 - - - - - -
- - - - - - - - - -
74015414 11:74015414-74015414 C intron_variant MODIFIER C2CD3
ENSG00000168014 Transcript ENST00000681143.1 protein_coding - 29/29
- - - - - - - - - -1 - HGNC
HGNC:24564 - - - - - - - - - - -
- - - - -
74015414 11:74015414-74015414 C intron_variant,NMD_transcript_variant
MODIFIER C2CD3 ENSG00000168014 Transcript ENST00000681291.1
nonsense_mediated_decay - 31/31 - - - - - - -
- - -1 - HGNC HGNC:24564 - - - - - -
- - - - - - - - - -
74015414 11:74015414-74015414 C intron_variant,NMD_transcript_variant
MODIFIER C2CD3 ENSG00000168014 Transcript ENST00000681385.1
nonsense_mediated_decay - 29/29 - - - - - - -
- - -1 - HGNC HGNC:24564 - - - - - -
 - - - - - - - - - -
74015414 11:74015414-74015414 C intron_variant,NMD_transcript_variant
MODIFIER C2CD3 ENSG00000168014 Transcript ENST00000681609.1
nonsense_mediated_decay - 31/31 - - - - - - -
- - -1 - HGNC HGNC:24564 - - - - - -
- - - - - - - - - -
74015414 11:74015414-74015414 C intron_variant,NMD_transcript_variant
MODIFIER C2CD3 ENSG00000168014 Transcript ENST00000681811.1
nonsense_mediated_decay - 32/32 - - - - - - -
- - -1 - HGNC HGNC:24564 - - - - - -
- - - - - - - - - -
74015414 11:74015414-74015414 C intron_variant,NMD_transcript_variant
MODIFIER C2CD3 ENSG00000168014 Transcript ENST00000681829.1
nonsense_mediated_decay - 33/33 - - - - - - -
- - -1 - HGNC HGNC:24564 - - - - - -
- - - - - - - - - -
74015414 11:74015414-74015414 C intron_variant,NMD_transcript_variant
MODIFIER C2CD3 ENSG00000168014 Transcript ENST00000681924.1
nonsense_mediated_decay - 32/32 - - - - - - -
- - -1 - HGNC HGNC:24564 - - - - - -
- - - - - - - - - -
93487189 11:93487189-93487189 A intron_variant MODIFIER SMCO4
ENSG00000166002 Transcript ENST00000298966.7 protein_coding - 2/2
- - - - - - - - - -1 - HGNC
HGNC:24810 NM_020179.3 - 1 P1 - - - - - -
- - - - - -
93487189 11:93487189-93487189 A intron_variant MODIFIER SMCO4
ENSG00000166002 Transcript ENST00000525141.1 protein_coding - 1/1
- - - - - - - - - -1 - HGNC
HGNC:24810 - - 2 P1 - - - - - - -
- - - - -
93487189 11:93487189-93487189 A intron_variant MODIFIER SMCO4
ENSG00000166002 Transcript ENST00000526869.1 protein_coding - 2/2
- - - - - - - - - -1 cds_end_NF HGNC
HGNC:24810 - - 1 - - - - - - - -
- - - - -
93487189 11:93487189-93487189 A intron_variant MODIFIER SMCO4
ENSG00000166002 Transcript ENST00000527149.5 protein_coding - 2/2
- - - - - - - - - -1 - HGNC
HGNC:24810 - - 5 P1 - - - - - - -
- - - - -
93487189 11:93487189-93487189 A intron_variant MODIFIER SMCO4
ENSG00000166002 Transcript ENST00000529714.5 protein_coding - 2/2
- - - - - - - - - -1 cds_end_NF HGNC
HGNC:24810 - - 3 - - - - - - - -
- - - - -
93487189 11:93487189-93487189 A regulatory_region_variant MODIFIER
- - RegulatoryFeature ENSR00000439151 enhancer - - -
- - - - - - - - - - - - -
- - - - - - - - - - - - - -
-
93487189 11:93487189-93487189 A TF_binding_site_variant MODIFIER -
- MotifFeature ENSM00524422974 - - - - - -
- - - - - - -1 - - - - - -
- - - - - - - - ENSPFM0508 2 N -0.011
SRF
102999660 11:102999660-102999660 G intergenic_variant MODIFIER -
- - - - - - - - - - - - -
- - - - - - - - - - - - - -
- - - - - - - -
57423292 12:57423292-57423292 G intron_variant MODIFIER R3HDM2
ENSG00000179912 Transcript ENST00000347140.7 protein_coding - 1/23
- - - - - - - - - -1 - HGNC
HGNC:29167 - - 1 - - - - - - - -
- - - - -
57423292 12:57423292-57423292 G intron_variant MODIFIER R3HDM2
ENSG00000179912 Transcript ENST00000402412.6 protein_coding - 1/23
- - - - - - - - - -1 - HGNC
HGNC:29167 NM_001394031.1 - 1 P1 - - - - -
- - - - - - -
57423292 12:57423292-57423292 G intron_variant MODIFIER R3HDM2
ENSG00000179912 Transcript ENST00000448732.1 protein_coding - 1/1
- - - - - - - - - -1 cds_end_NF HGNC
HGNC:29167 - - 1 - - - - - - - -
- - - - -
57423292 12:57423292-57423292 G intron_variant MODIFIER R3HDM2
ENSG00000179912 Transcript ENST00000634871.1 protein_coding - 1/23
- - - - - - - - - -1 - HGNC
HGNC:29167 - - 5 - - - - - - - -
- - - - -
133331371 12:133331371-133331371 A intergenic_variant MODIFIER -
- - - - - - - - - - - - -
- - - - - - - - - - - - - -
- - - - - - - -
19573115 14:19573115-19573115 T intergenic_variant MODIFIER -
- - - - - - - - - - - - -
- - - - - - - - - - - - - -
- - - - - - - -
20612813 14:20612813-20612813 C upstream_gene_variant MODIFIER
RNASE11 ENSG00000173464 Transcript ENST00000413502.1 protein_coding
- - - - - - - - - - 2929 -1
cds_end_NF HGNC HGNC:19269 - - 2 - - - - -
- - - - - - - -
20612813 14:20612813-20612813 C downstream_gene_variant MODIFIER -
ENSG00000239327 Transcript ENST00000496941.1 processed_pseudogene -
- - - - - - - - - 3831 -1 - -
- - - - - - - - - - - - -
- - - -
20612813 14:20612813-20612813 C regulatory_region_variant MODIFIER
- - RegulatoryFeature ENSR00000066379 promoter - - -
- - - - - - - - - - - - -
- - - - - - - - - - - - - -
-
24573280 16:24573280-24573280 C downstream_gene_variant MODIFIER RBBP6
ENSG00000122257 Transcript ENST00000319715.10 protein_coding -
- - - - - - - - - 417 1 - HGNC
HGNC:9889 NM_006910.5 - 1 P3 - - - - - -
- - - - - -
24573280 16:24573280-24573280 C downstream_gene_variant MODIFIER RBBP6
ENSG00000122257 Transcript ENST00000348022.6 protein_coding - -
- - - - - - - - 417 1 - HGNC
HGNC:9889 - - 1 A2 - - - - - - -
- - - - -
24573280 16:24573280-24573280 C downstream_gene_variant MODIFIER RBBP6
ENSG00000122257 Transcript ENST00000381039.7 protein_coding - -
- - - - - - - - 417 1 - HGNC
HGNC:9889 - - 1 - - - - - - - -
- - - - -
24573280 16:24573280-24573280 C downstream_gene_variant MODIFIER RBBP6
ENSG00000122257 Transcript ENST00000562430.5 retained_intron - -
- - - - - - - - 420 1 - HGNC
HGNC:9889 - - 1 - - - - - - - -
- - - - -
24573280 16:24573280-24573280 C downstream_gene_variant MODIFIER RBBP6
ENSG00000122257 Transcript ENST00000564314.5 protein_coding - -
- - - - - - - - 3167 1 cds_end_NF HGNC
HGNC:9889 - - 2 - - - - - - - -
- - - - -
24573280 16:24573280-24573280 C downstream_gene_variant MODIFIER RBBP6
ENSG00000122257 Transcript ENST00000646282.1 protein_coding - -
- - - - - - - - 1049 1 cds_end_NF HGNC
HGNC:9889 - - - - - - - - - - -
- - - - -
71103393 16:71103393-71103393 T intron_variant MODIFIER HYDIN
ENSG00000157423 Transcript ENST00000288168.14 protein_coding -
10/14 - - - - - - - - - -1 - HGNC
HGNC:19368 - - 1 - - - - - - - -
- - - - -
71103393 16:71103393-71103393 T intron_variant MODIFIER HYDIN
ENSG00000157423 Transcript ENST00000321489.9 protein_coding - 10/19
- - - - - - - - - -1 - HGNC
HGNC:19368 - - 2 - - - - - - - -
- - - - -
71103393 16:71103393-71103393 T intron_variant,NMD_transcript_variant
MODIFIER HYDIN ENSG00000157423 Transcript ENST00000393552.6
nonsense_mediated_decay - 2/17 - - - - - - -
- - -1 cds_start_NF HGNC HGNC:19368 - - 1 -
- - - - - - - - - - - -
71103393 16:71103393-71103393 T intron_variant MODIFIER HYDIN
ENSG00000157423 Transcript ENST00000393567.7 protein_coding - 10/85
- - - - - - - - - -1 - HGNC
HGNC:19368 NM_001270974.2 - 5 P1 - - - - -
- - - - - - -
71103393 16:71103393-71103393 T intron_variant MODIFIER HYDIN
ENSG00000157423 Transcript ENST00000538248.5 protein_coding - 10/18
- - - - - - - - - -1 - HGNC
HGNC:19368 - - 2 - - - - - - - -
- - - - -
71103393 16:71103393-71103393 T intron_variant,NMD_transcript_variant
MODIFIER HYDIN ENSG00000157423 Transcript ENST00000539447.5
nonsense_mediated_decay - 8/18 - - - - - - -
- - -1 cds_start_NF HGNC HGNC:19368 - - 1 -
- - - - - - - - - - - -
71103393 16:71103393-71103393 T intron_variant MODIFIER HYDIN
ENSG00000157423 Transcript ENST00000541601.5 protein_coding - 10/18
- - - - - - - - - -1 - HGNC
HGNC:19368 - - 2 - - - - - - - -
- - - - -
71103393 16:71103393-71103393 T intron_variant,NMD_transcript_variant
MODIFIER HYDIN ENSG00000157423 Transcript ENST00000545230.5
nonsense_mediated_decay - 5/15 - - - - - - -
- - -1 cds_start_NF HGNC HGNC:19368 - - 1 -
- - - - - - - - - - - -
1731221 17:1731221-1731221 G missense_variant MODERATE WDR81
ENSG00000167716 Transcript ENST00000309182.9 protein_coding 5/11 -
- - 1188 967 323 M/V Atg/Gtg - - 1 - HGNC
HGNC:26600 - - 2 - deleterious(0) probably_damaging(0.975)
 - - - - - - - - - -
1731221 17:1731221-1731221 G missense_variant MODERATE WDR81
ENSG00000167716 Transcript ENST00000409644.6 protein_coding 4/10 -
- - 4376 4120 1374 M/V Atg/Gtg - - 1 - HGNC
HGNC:26600 NM_001163809.2 - 1 P1 deleterious(0)
possibly_damaging(0.864) - - - - - - - -
- -
1731221 17:1731221-1731221 G intron_variant MODIFIER WDR81
ENSG00000167716 Transcript ENST00000418841.5 protein_coding - 1/3
- - - - - - - - - 1 cds_end_NF HGNC
HGNC:26600 - - 3 - - - - - - - -
- - - - -
1731221 17:1731221-1731221 G missense_variant MODERATE WDR81
ENSG00000167716 Transcript ENST00000419248.5 protein_coding 4/10 -
- - 700 439 147 M/V Atg/Gtg - - 1 - HGNC
HGNC:26600 - - 2 - deleterious(0.01) probably_damaging(0.975)
- - - - - - - - - -
1731221 17:1731221-1731221 G missense_variant MODERATE WDR81
ENSG00000167716 Transcript ENST00000437219.6 protein_coding 4/10 -
- - 564 511 171 M/V Atg/Gtg - - 1 - HGNC
HGNC:26600 - - 2 - deleterious(0.02) probably_damaging(0.915)
- - - - - - - - - -
1731221 17:1731221-1731221 G missense_variant MODERATE WDR81
ENSG00000167716 Transcript ENST00000446363.5 protein_coding 3/9 -
- - 459 37 13 M/V Atg/Gtg - - 1 - HGNC
HGNC:26600 - - 1 - deleterious(0) probably_damaging(0.975)
- - - - - - - - - -
1731221 17:1731221-1731221 G missense_variant MODERATE WDR81
ENSG00000167716 Transcript ENST00000455636.5 protein_coding 4/4 -
- - 564 511 171 M/V Atg/Gtg - - 1 cds_end_NF
HGNC HGNC:26600 - - 3 - tolerated(0.05)
probably_damaging(0.915) - - - - - - - -
- -
1731221 17:1731221-1731221 G non_coding_transcript_exon_variant
MODIFIER WDR81 ENSG00000167716 Transcript ENST00000464528.5
retained_intron 4/9 - - - 1506 - - - - -
- 1 - HGNC HGNC:26600 - - 2 - - - -
- - - - - - - - -
1731221 17:1731221-1731221 G intron_variant MODIFIER WDR81
ENSG00000167716 Transcript ENST00000468539.5 protein_coding - 1/3
- - - - - - - - - 1 cds_end_NF HGNC
HGNC:26600 - - 4 - - - - - - - -
- - - - -
1731221 17:1731221-1731221 G intron_variant,NMD_transcript_variant
MODIFIER WDR81 ENSG00000167716 Transcript ENST00000474958.2
nonsense_mediated_decay - 2/4 - - - - - - -
- - 1 cds_start_NF HGNC HGNC:26600 - - 5 -
- - - - - - - - - - - -
1731221 17:1731221-1731221 G downstream_gene_variant MODIFIER WDR81
ENSG00000167716 Transcript ENST00000479966.1 retained_intron - -
- - - - - - - - 8 1 - HGNC
HGNC:26600 - - 2 - - - - - - - -
- - - - -
1731221 17:1731221-1731221 G downstream_gene_variant MODIFIER WDR81
ENSG00000167716 Transcript ENST00000492901.1 retained_intron - -
- - - - - - - - 384 1 - HGNC
HGNC:26600 - - 4 - - - - - - - -
- - - - -
1731221 17:1731221-1731221 G non_coding_transcript_exon_variant
 MODIFIER WDR81 ENSG00000167716 Transcript ENST00000495411.1
retained_intron 1/3 - - - 38 - - - - -
- 1 - HGNC HGNC:26600 - - 4 - - - -
- - - - - - - - -
1731221 17:1731221-1731221 G downstream_gene_variant MODIFIER WDR81
ENSG00000167716 Transcript ENST00000575206.1 protein_coding - -
- - - - - - - - 294 1
cds_start_NF,cds_end_NF HGNC HGNC:26600 - - 3 - - -
- - - - - - - - - -
1731221 17:1731221-1731221 G
intron_variant,non_coding_transcript_variant MODIFIER -
ENSG00000262791 Transcript ENST00000576540.1 lncRNA - 1/1 -
- - - - - - - - -1 - - - -
- 3 - - - - - - - - - - -
- -
1731221 17:1731221-1731221 G TF_binding_site_variant MODIFIER -
- MotifFeature ENSM00524680896 - - - - - -
- - - - - - 1 - - - - - -
- - - - - - - - ENSPFM0120 6 Y -0.077
ERF::MAX,FLI1::MAX
59821830 17:59821830-59821830 A intron_variant MODIFIER VMP1
ENSG00000062716 Transcript ENST00000262291.9 protein_coding - 10/11
- - - - - - - - - 1 - HGNC
HGNC:29559 NM_030938.5 - 1 P1 - - - - - -
- - - - - -
59821830 17:59821830-59821830 A intron_variant MODIFIER VMP1
ENSG00000062716 Transcript ENST00000591877.1 protein_coding - 4/6
- - - - - - - - - 1 cds_start_NF
HGNC HGNC:29559 - - 3 - - - - - - -
- - - - - -
59821830 17:59821830-59821830 A intron_variant,NMD_transcript_variant
MODIFIER VMP1 ENSG00000062716 Transcript ENST00000592619.5
nonsense_mediated_decay - 4/5 - - - - - - -
- - 1 cds_start_NF HGNC HGNC:29559 - - 5 -
- - - - - - - - - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000339566.7 protein_coding - -
- - - - - - - - 1265 1 - HGNC
HGNC:16950 - - 5 P3 - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000394070.7 protein_coding - -
- - - - - - - - 1265 1 - HGNC
HGNC:16950 NM_213622.4 - 1 P3 - - - - - -
- - - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000394073.6 protein_coding - -
- - - - - - - - 1281 1 - HGNC
HGNC:16950 - - 1 P3 - - - - - - -
- - - - -
73868433 2:73868433-73868433 T intron_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000409707.6 protein_coding - 10/10
- - - - - - - - - 1 - HGNC
HGNC:16950 - - 5 P3 - - - - - - -
- - - - -
73868433 2:73868433-73868433 T intron_variant,NMD_transcript_variant
MODIFIER STAMBP ENSG00000124356 Transcript ENST00000478946.2
nonsense_mediated_decay - 9/10 - - - - - - -
- - 1 - HGNC HGNC:16950 - - 3 - - -
 - - - - - - - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000486458.2
protein_coding_CDS_not_defined - - - - - - -
- - - 1281 1 - HGNC HGNC:16950 - - 3 -
- - - - - - - - - - - -
73868433 2:73868433-73868433 T upstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000487811.2 retained_intron - -
- - - - - - - - 1356 1 - HGNC
HGNC:16950 - - 3 - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000682271.1 retained_intron - -
- - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000682351.1 protein_coding - -
- - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - P3 - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000682352.1 protein_coding - -
- - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T intron_variant,NMD_transcript_variant
MODIFIER STAMBP ENSG00000124356 Transcript ENST00000682379.1
nonsense_mediated_decay - 11/12 - - - - - - -
- - 1 - HGNC HGNC:16950 - - - - - -
- - - - - - - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000682387.1 nonsense_mediated_decay -
- - - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T intron_variant,NMD_transcript_variant
MODIFIER STAMBP ENSG00000124356 Transcript ENST00000682423.1
nonsense_mediated_decay - 11/12 - - - - - - -
- - 1 - HGNC HGNC:16950 - - - - - -
- - - - - - - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000682558.1 protein_coding - -
- - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - P3 - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000682592.1 nonsense_mediated_decay -
- - - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000682683.1 retained_intron - -
- - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000682747.1 retained_intron - -
- - - - - - - - 1281 1 - HGNC
 HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000682784.1 nonsense_mediated_decay -
- - - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T intron_variant,NMD_transcript_variant
MODIFIER STAMBP ENSG00000124356 Transcript ENST00000682847.1
nonsense_mediated_decay - 10/11 - - - - - - -
- - 1 - HGNC HGNC:16950 - - - - - -
- - - - - - - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000682848.1 protein_coding - -
- - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000682851.1 protein_coding - -
- - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000683016.1 nonsense_mediated_decay -
- - - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000683027.1 retained_intron - -
- - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T intron_variant,NMD_transcript_variant
MODIFIER STAMBP ENSG00000124356 Transcript ENST00000683036.1
nonsense_mediated_decay - 10/12 - - - - - - -
- - 1 - HGNC HGNC:16950 - - - - - -
- - - - - - - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000683149.1 nonsense_mediated_decay -
- - - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000683247.1 nonsense_mediated_decay -
- - - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000683304.1 nonsense_mediated_decay -
- - - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000683314.1 retained_intron - -
- - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T intron_variant,NMD_transcript_variant
MODIFIER STAMBP ENSG00000124356 Transcript ENST00000683317.1
 nonsense_mediated_decay - 10/12 - - - - - - -
- - 1 - HGNC HGNC:16950 - - - - - -
- - - - - - - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000683391.1 protein_coding - -
- - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - A1 - - - - - - -
- - - - -
73868433 2:73868433-73868433 T upstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000683408.1 retained_intron - -
- - - - - - - - 1274 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T intron_variant,NMD_transcript_variant
MODIFIER STAMBP ENSG00000124356 Transcript ENST00000683417.1
nonsense_mediated_decay - 10/11 - - - - - - -
- - 1 - HGNC HGNC:16950 - - - - - -
- - - - - - - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000683434.1 protein_coding - -
- - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - A1 - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000683465.1 retained_intron - -
- - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T intron_variant,NMD_transcript_variant
MODIFIER STAMBP ENSG00000124356 Transcript ENST00000683518.1
nonsense_mediated_decay - 11/12 - - - - - - -
- - 1 - HGNC HGNC:16950 - - - - - -
- - - - - - - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000683530.1 nonsense_mediated_decay -
- - - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000683594.1 nonsense_mediated_decay -
- - - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000683718.1 nonsense_mediated_decay -
- - - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000683728.1 nonsense_mediated_decay -
- - - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000683818.1 protein_coding - -
- - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - P3 - - - - - - -
- - - - -
73868433 2:73868433-73868433 T intron_variant,NMD_transcript_variant
 MODIFIER STAMBP ENSG00000124356 Transcript ENST00000683852.1
nonsense_mediated_decay - 10/11 - - - - - - -
- - 1 - HGNC HGNC:16950 - - - - - -
- - - - - - - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000683877.1 protein_coding - -
- - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000683902.1 protein_coding - -
- - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - A1 - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000683928.1 nonsense_mediated_decay -
- - - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T intron_variant,NMD_transcript_variant
MODIFIER STAMBP ENSG00000124356 Transcript ENST00000684095.1
nonsense_mediated_decay - 10/11 - - - - - - -
- - 1 - HGNC HGNC:16950 - - - - - -
- - - - - - - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000684174.1 retained_intron - -
- - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000684200.1 nonsense_mediated_decay -
- - - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T intron_variant,NMD_transcript_variant
MODIFIER STAMBP ENSG00000124356 Transcript ENST00000684312.1
nonsense_mediated_decay - 10/11 - - - - - - -
- - 1 - HGNC HGNC:16950 - - - - - -
- - - - - - - - - -
73868433 2:73868433-73868433 T intron_variant,NMD_transcript_variant
MODIFIER STAMBP ENSG00000124356 Transcript ENST00000684321.1
nonsense_mediated_decay - 10/12 - - - - - - -
- - 1 - HGNC HGNC:16950 - - - - - -
- - - - - - - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000684337.1 nonsense_mediated_decay -
- - - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000684355.1 protein_coding - -
- - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000684585.1 protein_coding - -
- - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - P3 - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000684671.1 nonsense_mediated_decay -
- - - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000684697.1 nonsense_mediated_decay -
- - - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T intron_variant,NMD_transcript_variant
MODIFIER STAMBP ENSG00000124356 Transcript ENST00000684716.1
nonsense_mediated_decay - 9/10 - - - - - - -
- - 1 - HGNC HGNC:16950 - - - - - -
- - - - - - - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000684758.1 nonsense_mediated_decay -
- - - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T downstream_gene_variant MODIFIER STAMBP
ENSG00000124356 Transcript ENST00000684774.1 nonsense_mediated_decay -
- - - - - - - - - 1281 1 - HGNC
HGNC:16950 - - - - - - - - - - -
- - - - -
73868433 2:73868433-73868433 T regulatory_region_variant MODIFIER
- - RegulatoryFeature ENSR00000610111 open_chromatin_region -
- - - - - - - - - - - - -
- - - - - - - - - - - - - -
- - -
84834172 2:84834172-84834172 T intron_variant MODIFIER TRABD2A
ENSG00000186854 Transcript ENST00000335459.9 protein_coding - 3/5
- - - - - - - - - -1 - HGNC
HGNC:27013 - - 1 - - - - - - - -
- - - - -
84834172 2:84834172-84834172 T downstream_gene_variant MODIFIER
TRABD2A ENSG00000186854 Transcript ENST00000409133.1 protein_coding
- - - - - - - - - - 3618 -1 -
HGNC HGNC:27013 - - 1 - - - - - - -
- - - - - -
84834172 2:84834172-84834172 T intron_variant MODIFIER TRABD2A
ENSG00000186854 Transcript ENST00000409520.7 protein_coding - 4/6
- - - - - - - - - -1 - HGNC
HGNC:27013 NM_001277053.2 - 1 P1 - - - - -
- - - - - - -
84834172 2:84834172-84834172 T downstream_gene_variant MODIFIER
TRABD2A ENSG00000186854 Transcript ENST00000460991.1
protein_coding_CDS_not_defined - - - - - - -
- - - 4895 -1 - HGNC HGNC:27013 - - 4 -
- - - - - - - - - - - -
84834172 2:84834172-84834172 T non_coding_transcript_exon_variant
MODIFIER TRABD2A ENSG00000186854 Transcript ENST00000479944.5
protein_coding_CDS_not_defined 1/4 - - - 1333 - -
- - - - -1 - HGNC HGNC:27013 - - 5 -
- - - - - - - - - - - -
84834172 2:84834172-84834172 T downstream_gene_variant MODIFIER
TRABD2A ENSG00000186854 Transcript ENST00000495990.5 retained_intron
- - - - - - - - - - 1747 -1 -
HGNC HGNC:27013 - - 1 - - - - - - -
 - - - - - -
84834172 2:84834172-84834172 T
intron_variant,non_coding_transcript_variant MODIFIER TRABD2A
ENSG00000186854 Transcript ENST00000496500.5
protein_coding_CDS_not_defined - 2/4 - - - - -
- - - - -1 - HGNC HGNC:27013 - - 3 -
- - - - - - - - - - - -
97329203 2:97329203-97329203 A downstream_gene_variant MODIFIER
IGKV2OR2-10 ENSG00000276050 Transcript ENST00000613976.1 IG_V_pseudogene
- - - - - - - - - - 2330 -1 -
HGNC HGNC:5806 - - - - - - - - - -
- - - - - -
60892813 20:60892813-60892813 A intergenic_variant MODIFIER -
- - - - - - - - - - - - -
- - - - - - - - - - - - - -
- - - - - - - -
21562464 22:21562464-21562464 A intron_variant MODIFIER UBE2L3
ENSG00000185651 Transcript ENST00000458578.6 protein_coding - 1/3
- - - - - - - - - 1 - HGNC
HGNC:12488 - - 2 - - - - - - - -
- - - - -
140794930 5:140794930-140794930 T 5_prime_UTR_variant MODIFIER PCDHA2
ENSG00000204969 Transcript ENST00000378132.2 protein_coding 1/1 -
- - 79 - - - - rs782425445,COSV65370653 -
1 - HGNC HGNC:8668 - - - - - - - -
0,1 0,1 - - - - - -
140794930 5:140794930-140794930 T intron_variant MODIFIER PCDHA1
ENSG00000204970 Transcript ENST00000394633.7 protein_coding - 1/3
- - - - - - - rs782425445,COSV65370653 -
1 - HGNC HGNC:8663 - - 1 - - - - -
0,1 0,1 - - - - - -
140794930 5:140794930-140794930 T intron_variant MODIFIER PCDHA1
ENSG00000204970 Transcript ENST00000504120.4 protein_coding - 1/3
- - - - - - - rs782425445,COSV65370653 -
1 - HGNC HGNC:8663 NM_018900.4 - 1 P1 - - -
- 0,1 0,1 - - - - - -
140794930 5:140794930-140794930 T 5_prime_UTR_variant MODIFIER PCDHA2
ENSG00000204969 Transcript ENST00000520672.2 protein_coding 1/2 -
- - 72 - - - - rs782425445,COSV65370653 -
1 - HGNC HGNC:8668 - - 1 - - - - -
0,1 0,1 - - - - - -
140794930 5:140794930-140794930 T 5_prime_UTR_variant MODIFIER PCDHA2
ENSG00000204969 Transcript ENST00000526136.2 protein_coding 1/4 -
- - 79 - - - - rs782425445,COSV65370653 -
1 - HGNC HGNC:8668 NM_018905.3 - 1 P1 - - -
- 0,1 0,1 - - - - - -
140794930 5:140794930-140794930 T
intron_variant,non_coding_transcript_variant MODIFIER -
ENSG00000279726 Transcript ENST00000624176.1 lncRNA - 2/2 -
- - - - - - rs782425445,COSV65370653 - -1
- - - - - 4 - - - - - 0,1 0,1
- - - - - -
140794930 5:140794930-140794930 T
intron_variant,non_coding_transcript_variant MODIFIER -
ENSG00000279726 Transcript ENST00000624712.1 lncRNA - 1/1 -
- - - - - - rs782425445,COSV65370653 - -1
- - - - - 1 - - - - - 0,1 0,1
- - - - - -
140794930 5:140794930-140794930 T
 intron_variant,non_coding_transcript_variant MODIFIER -
ENSG00000279726 Transcript ENST00000655235.1 lncRNA - 1/1 -
- - - - - - rs782425445,COSV65370653 - -1
- - - - - - - - - - - 0,1 0,1
- - - - - -
140794930 5:140794930-140794930 T
intron_variant,non_coding_transcript_variant MODIFIER -
ENSG00000279726 Transcript ENST00000660962.1 lncRNA - 2/3 -
- - - - - - rs782425445,COSV65370653 - -1
- - - - - - - - - - - 0,1 0,1
- - - - - -
140794930 5:140794930-140794930 T regulatory_region_variant MODIFIER
- - RegulatoryFeature ENSR00000771510 CTCF_binding_site - -
- - - - - - - rs782425445,COSV65370653 -
- - - - - - - - - - - - 0,1
0,1 - - - - - -
140794930 5:140794930-140794930 T regulatory_region_variant MODIFIER
- - RegulatoryFeature ENSR00000771511 promoter - - -
- - - - - - rs782425445,COSV65370653 - -
- - - - - - - - - - - 0,1 0,1
- - - - - -
995004 7:995004-995004 T downstream_gene_variant MODIFIER C7orf50
ENSG00000146540 Transcript ENST00000357429.10 protein_coding -
- - - - - - - - - 1982 -1 - HGNC
HGNC:22421 - - 1 P1 - - - - - - -
- - - - -
995004 7:995004-995004 T downstream_gene_variant MODIFIER C7orf50
ENSG00000146540 Transcript ENST00000397098.8 protein_coding - -
- - - - - - - - 2002 -1 - HGNC
HGNC:22421 NM_001318252.2 - 1 P1 - - - - -
- - - - - - -
995004 7:995004-995004 T downstream_gene_variant MODIFIER C7orf50
ENSG00000146540 Transcript ENST00000397100.6 protein_coding - -
- - - - - - - - 1983 -1 - HGNC
HGNC:22421 - - 3 P1 - - - - - - -
- - - - -
995004 7:995004-995004 T downstream_gene_variant MODIFIER C7orf50
ENSG00000146540 Transcript ENST00000412051.5 protein_coding - -
- - - - - - - - 2012 -1 cds_start_NF
HGNC HGNC:22421 - - 2 - - - - - - -
- - - - - -
995004 7:995004-995004 T downstream_gene_variant MODIFIER C7orf50
ENSG00000146540 Transcript ENST00000444428.5 protein_coding - -
- - - - - - - - 2603 -1 cds_start_NF
HGNC HGNC:22421 - - 3 - - - - - - -
- - - - - -
995004 7:995004-995004 T downstream_gene_variant MODIFIER C7orf50
ENSG00000146540 Transcript ENST00000488073.1
protein_coding_CDS_not_defined - - - - - - -
- - - 2490 -1 - HGNC HGNC:22421 - - 5 -
- - - - - - - - - - - -
995004 7:995004-995004 T downstream_gene_variant MODIFIER C7orf50
ENSG00000146540 Transcript ENST00000491163.1 protein_coding - -
- - - - - - - - 2629 -1 cds_end_NF HGNC
HGNC:22421 - - 3 - - - - - - - -
- - - - -
6071028 7:6071028-6071028 A intergenic_variant MODIFIER - -
- - - - - - - - - - - - -
- - - - - - - - - - - - - -
- - - - - - -
16902233 7:16902233-16902233 T intergenic_variant MODIFIER -
- - - - - - - - - - - - -
- - - - - - - - - - - - - -
- - - - - - - -
24905795 7:24905795-24905795 T intron_variant MODIFIER OSBPL3
ENSG00000070882 Transcript ENST00000313367.7 protein_coding - 1/22
- - - - - - - - - -1 - HGNC
HGNC:16370 NM_015550.4 - 1 P3 - - - - - -
- - - - - -
24905795 7:24905795-24905795 T intron_variant MODIFIER OSBPL3
ENSG00000070882 Transcript ENST00000415162.5 protein_coding - 1/4
- - - - - - - - - -1 cds_end_NF HGNC
HGNC:16370 - - 4 - - - - - - - -
- - - - -
24905795 7:24905795-24905795 T intron_variant MODIFIER OSBPL3
ENSG00000070882 Transcript ENST00000415952.1 protein_coding - 1/2
- - - - - - - - - -1 cds_end_NF HGNC
HGNC:16370 - - 4 - - - - - - - -
- - - - -
24905795 7:24905795-24905795 T downstream_gene_variant MODIFIER
SNRPCP19 ENSG00000234999 Transcript ENST00000420809.1
processed_pseudogene - - - - - - - - -
- 340 -1 - HGNC HGNC:49834 - - - - - -
- - - - - - - - - -
24905795 7:24905795-24905795 T intron_variant MODIFIER OSBPL3
ENSG00000070882 Transcript ENST00000441059.5 protein_coding - 1/3
- - - - - - - - - -1 cds_end_NF HGNC
HGNC:16370 - - 4 - - - - - - - -
- - - - -
26224356 7:26224356-26224356 A downstream_gene_variant MODIFIER -
ENSG00000285860 Transcript ENST00000650328.1 lncRNA - - -
- - - - - - - 2057 -1 - - - -
- - - - - - - - - - - - -
- -
289557 9:289557-289557 A missense_variant MODERATE DOCK8
ENSG00000107099 Transcript ENST00000382329.2 protein_coding 4/46 -
- - 573 176 59 R/H cGt/cAt rs150742426,COSV66634374
- 1 - HGNC HGNC:19191 - - 1 -
deleterious_low_confidence(0) benign(0.051) 0.0004
likely_benign,conflicting_interpretations_of_pathogenicity 0,1 1,1
25741868 - - - - -
289557 9:289557-289557 A non_coding_transcript_exon_variant MODIFIER
DOCK8 ENSG00000107099 Transcript ENST00000382341.5 retained_intron 3/13
- - - 275 - - - - rs150742426,COSV66634374
- 1 - HGNC HGNC:19191 - - 2 - - - 0.0004
likely_benign,conflicting_interpretations_of_pathogenicity 0,1 1,1
25741868 - - - - -
289557 9:289557-289557 A missense_variant MODERATE DOCK8
ENSG00000107099 Transcript ENST00000432829.7 protein_coding 4/48 -
- - 492 380 127 R/H cGt/cAt rs150742426,COSV66634374
- 1 - HGNC HGNC:19191 NM_203447.4 - 1 -
deleterious_low_confidence(0) benign(0.13) 0.0004
likely_benign,conflicting_interpretations_of_pathogenicity 0,1 1,1
25741868 - - - - -
289557 9:289557-289557 A missense_variant MODERATE DOCK8
ENSG00000107099 Transcript ENST00000453981.5 protein_coding 3/47 -
- - 277 176 59 R/H cGt/cAt rs150742426,COSV66634374
- 1 - HGNC HGNC:19191 - - 5 P1
 deleterious_low_confidence(0) benign(0.13) 0.0004
likely_benign,conflicting_interpretations_of_pathogenicity 0,1 1,1
25741868 - - - - -
289557 9:289557-289557 A non_coding_transcript_exon_variant MODIFIER
DOCK8 ENSG00000107099 Transcript ENST00000454469.6 retained_intron 4/14
- - - 489 - - - - rs150742426,COSV66634374
- 1 - HGNC HGNC:19191 - - 2 - - - 0.0004
likely_benign,conflicting_interpretations_of_pathogenicity 0,1 1,1
25741868 - - - - -
289557 9:289557-289557 A downstream_gene_variant MODIFIER DOCK8
ENSG00000107099 Transcript ENST00000469197.5 nonsense_mediated_decay -
- - - - - - - - rs150742426,COSV66634374
2921 1 - HGNC HGNC:19191 - - 5 - - - 0.0004
likely_benign,conflicting_interpretations_of_pathogenicity 0,1 1,1
25741868 - - - - -
289557 9:289557-289557 A missense_variant MODERATE DOCK8
ENSG00000107099 Transcript ENST00000469391.5 protein_coding 3/46 -
- - 255 176 59 R/H cGt/cAt rs150742426,COSV66634374
- 1 - HGNC HGNC:19191 - - 1 -
deleterious_low_confidence(0) benign(0.13) 0.0004
likely_benign,conflicting_interpretations_of_pathogenicity 0,1 1,1
25741868 - - - - -
289557 9:289557-289557 A non_coding_transcript_exon_variant MODIFIER
DOCK8 ENSG00000107099 Transcript ENST00000478380.5 retained_intron 3/5
- - - 259 - - - - rs150742426,COSV66634374
- 1 - HGNC HGNC:19191 - - 1 - - - 0.0004
likely_benign,conflicting_interpretations_of_pathogenicity 0,1 1,1
25741868 - - - - -
289557 9:289557-289557 A missense_variant,NMD_transcript_variant
MODERATE DOCK8 ENSG00000107099 Transcript ENST00000483757.6
nonsense_mediated_decay 3/23 - - - 266 176 59 R/H
cGt/cAt rs150742426,COSV66634374 - 1 - HGNC HGNC:19191
- - 1 - deleterious_low_confidence(0) benign(0.22) 0.0004
likely_benign,conflicting_interpretations_of_pathogenicity 0,1 1,1
25741868 - - - - -
289557 9:289557-289557 A missense_variant MODERATE DOCK8
ENSG00000107099 Transcript ENST00000487230.5 protein_coding 4/5 -
- - 390 176 59 R/H cGt/cAt rs150742426,COSV66634374
- 1 cds_end_NF HGNC HGNC:19191 - - 4 -
deleterious(0) benign(0.13) 0.0004
likely_benign,conflicting_interpretations_of_pathogenicity 0,1 1,1
25741868 - - - - -
289557 9:289557-289557 A non_coding_transcript_exon_variant MODIFIER
DOCK8 ENSG00000107099 Transcript ENST00000495184.5 retained_intron 3/46
- - - 241 - - - - rs150742426,COSV66634374
- 1 - HGNC HGNC:19191 - - 1 - - - 0.0004
likely_benign,conflicting_interpretations_of_pathogenicity 0,1 1,1
25741868 - - - - -
289557 9:289557-289557 A 3_prime_UTR_variant,NMD_transcript_variant
MODIFIER DOCK8 ENSG00000107099 Transcript ENST00000524396.5
nonsense_mediated_decay 5/15 - - - 608 - - - -
rs150742426,COSV66634374 - 1 - HGNC HGNC:19191 - -
5 - - - 0.0004
likely_benign,conflicting_interpretations_of_pathogenicity 0,1 1,1
25741868 - - - - -
289557 9:289557-289557 A non_coding_transcript_exon_variant MODIFIER
DOCK8 ENSG00000107099 Transcript ENST00000682121.1 retained_intron 3/3
- - - 389 - - - - rs150742426,COSV66634374
- 1 - HGNC HGNC:19191 - - - - - - 0.0004
 likely_benign,conflicting_interpretations_of_pathogenicity 0,1 1,1
25741868 - - - - -
289557 9:289557-289557 A missense_variant MODERATE DOCK8
ENSG00000107099 Transcript ENST00000682249.1 protein_coding 3/6 -
- - 279 176 59 R/H cGt/cAt rs150742426,COSV66634374
- 1 - HGNC HGNC:19191 - - - - deleterious(0)
possibly_damaging(0.468) 0.0004
likely_benign,conflicting_interpretations_of_pathogenicity 0,1 1,1
25741868 - - - - -
289557 9:289557-289557 A non_coding_transcript_exon_variant MODIFIER
DOCK8 ENSG00000107099 Transcript ENST00000684166.1 retained_intron 4/4
- - - 489 - - - - rs150742426,COSV66634374
- 1 - HGNC HGNC:19191 - - - - - - 0.0004
likely_benign,conflicting_interpretations_of_pathogenicity 0,1 1,1
25741868 - - - - -
289557 9:289557-289557 A non_coding_transcript_exon_variant MODIFIER
DOCK8 ENSG00000107099 Transcript ENST00000684384.1 retained_intron 4/6
- - - 489 - - - - rs150742426,COSV66634374
- 1 - HGNC HGNC:19191 - - - - - - 0.0004
likely_benign,conflicting_interpretations_of_pathogenicity 0,1 1,1
25741868 - - - - -
72897441 9:72897441-72897441 A downstream_gene_variant MODIFIER
ALDH1A1 ENSG00000165092 Transcript ENST00000297785.8 protein_coding
- - - - - - - - - - 3230 -1 -
HGNC HGNC:402 NM_000689.5 - 1 P1 - - - - -
- - - - - - -
79322886 9:79322886-79322886 G intergenic_variant MODIFIER -
- - - - - - - - - - - - -
- - - - - - - - - - - - - -
- - - - - - - -
130674853 9:130674853-130674853 T intron_variant MODIFIER PRDM12
ENSG00000130711 Transcript ENST00000253008.3 protein_coding - 3/4
- - - - - - - - - 1 - HGNC
HGNC:13997 NM_021619.3 - 1 P1 - - - - - -
- - - - - -
130674853 9:130674853-130674853 T intron_variant MODIFIER PRDM12
ENSG00000130711 Transcript ENST00000676323.1 protein_coding - 3/5
- - - - - - - - - 1 - HGNC
HGNC:13997 - - - - - - - - - - -
- - - - -
133270719 9:133270719-133270719 T
intron_variant,non_coding_transcript_variant MODIFIER ABO
ENSG00000175164 Transcript ENST00000453660.4
protein_coding_CDS_not_defined - 1/6 - - - - -
- - - - -1 - HGNC HGNC:79 - - 1 -
- - - - - - - - - - - -
133270719 9:133270719-133270719 T intron_variant MODIFIER ABO
ENSG00000175164 Transcript ENST00000538324.2 protein_coding - 1/8
- - - - - - - - - -1 - HGNC
HGNC:79 - - 5 A2 - - - - - - -
- - - - -
133270719 9:133270719-133270719 T intron_variant MODIFIER ABO
ENSG00000175164 Transcript ENST00000611156.4 protein_coding - 1/7
- - - - - - - - - -1 - HGNC
HGNC:79 - - 5 P2 - - - - - - -
- - - - -
133270719 9:133270719-133270719 T
intron_variant,non_coding_transcript_variant MODIFIER ABO
ENSG00000175164 Transcript ENST00000647353.1
 protein_coding_CDS_not_defined - 1/1 - - - - -
- - - - -1 - HGNC HGNC:79 - - - -
- - - - - - - - - - - -
133270719 9:133270719-133270719 T
intron_variant,non_coding_transcript_variant MODIFIER ABO
ENSG00000175164 Transcript ENST00000651471.1
protein_coding_CDS_not_defined - 1/5 - - - - -
- - - - -1 - HGNC HGNC:79 - - - -
- - - - - - - - - - - -
133270719 9:133270719-133270719 T intron_variant MODIFIER ABO
ENSG00000175164 Transcript ENST00000679909.1 protein_coding - 1/1
- - - - - - - - - -1 - HGNC
HGNC:79 - - - - - - - - - - -
- - - - -