File: select-tr-expr.3.out

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##fileformat=VCFv4.1
##FILTER=<ID=PASS,Description="All filters passed">
##VEP="v110" time="2023-11-23 11:29:25" cache="/opt/vep/.vep/homo_sapiens/110_GRCh38" ensembl-funcgen=110.24e6da6 ensembl=110.584a8f3 ensembl-variation=110.d34d25e ensembl-io=110.b1a0d57 1000genomes="phase3" COSMIC="97" ClinVar="202301" HGMD-PUBLIC="20204" assembly="GRCh38.p14" dbSNP="154" gencode="GENCODE 44" genebuild="2014-07" gnomADe="r2.1.1" gnomADg="v3.1.2" polyphen="2.2.3" regbuild="1.0" sift="6.2.1"
##INFO=<ID=CSQ,Number=.,Type=String,Description="Consequence annotations from Ensembl VEP. Format: Allele|Consequence|IMPACT|SYMBOL|Gene|Feature_type|Feature|BIOTYPE|EXON|INTRON|HGVSc|HGVSp|cDNA_position|CDS_position|Protein_position|Amino_acids|Codons|Existing_variation|ALLELE_NUM|DISTANCE|STRAND|FLAGS|VARIANT_CLASS|SYMBOL_SOURCE|HGNC_ID|CANONICAL|MANE_SELECT|MANE_PLUS_CLINICAL|TSL|APPRIS|CCDS|ENSP|SWISSPROT|TREMBL|UNIPARC|UNIPROT_ISOFORM|GENE_PHENO|SIFT|PolyPhen|DOMAINS|miRNA|HGVS_OFFSET|AF|AFR_AF|AMR_AF|EAS_AF|EUR_AF|SAS_AF|gnomADe_AF|gnomADe_AFR_AF|gnomADe_AMR_AF|gnomADe_ASJ_AF|gnomADe_EAS_AF|gnomADe_FIN_AF|gnomADe_NFE_AF|gnomADe_OTH_AF|gnomADe_SAS_AF|gnomADg_AF|gnomADg_AFR_AF|gnomADg_AMI_AF|gnomADg_AMR_AF|gnomADg_ASJ_AF|gnomADg_EAS_AF|gnomADg_FIN_AF|gnomADg_MID_AF|gnomADg_NFE_AF|gnomADg_OTH_AF|gnomADg_SAS_AF|MAX_AF|MAX_AF_POPS|CLIN_SIG|SOMATIC|PHENO|PUBMED|MOTIF_NAME|MOTIF_POS|HIGH_INF_POS|MOTIF_SCORE_CHANGE|TRANSCRIPTION_FACTORS|SpliceRegion|GeneSplicer|existing_InFrame_oORFs|existing_OutOfFrame_oORFs|existing_uORFs|five_prime_UTR_variant_annotation|five_prime_UTR_variant_consequence|CADD_PHRED|CADD_RAW|AlphaMissense_pred|AlphaMissense_rankscore|AlphaMissense_score|Ensembl_transcriptid|LRT_pred|MutationTaster_pred|Polyphen2_HDIV_pred|Polyphen2_HVAR_pred|PrimateAI_pred|PrimateAI_rankscore|PrimateAI_score|SIFT_pred|Uniprot_acc|VEP_canonical|DisGeNET_PMID|DisGeNET_SCORE|PHENOTYPES|Conservation|LoF|LoF_filter|LoF_flags|LoF_info|REVEL|SpliceAI_pred_DP_AG|SpliceAI_pred_DP_AL|SpliceAI_pred_DP_DG|SpliceAI_pred_DP_DL|SpliceAI_pred_DS_AG|SpliceAI_pred_DS_AL|SpliceAI_pred_DS_DG|SpliceAI_pred_DS_DL|SpliceAI_pred_SYMBOL|EVE_CLASS|EVE_SCORE">
##contig=<ID=1>
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO
1	1789242	.	T	C	.	.	CSQ=C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000378609|protein_coding|10/12||ENST00000378609.9:c.727A>G|ENSP00000367872.3:p.Thr243Ala|1090|727|243|T/A|Act/Gct|rs1394767075|1||-1||SNV|HGNC|HGNC:4396|YES|NM_002074.5||1|P1|CCDS34.1|ENSP00000367872|P62873.191|A0A140VJJ8.16|UPI00000230B3|P62873-1|1|deleterious_low_confidence(0.01)|possibly_damaging(0.906)||||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146|P&P&P|0.89465|0.9681&0.8682&0.9703|ENST00000610897&ENST00000615252&ENST00000378609|D|D&D&D|P&.&P|P&.&P|D|0.87156|0.83386772871|.&.&D|P62873&B3KVK2&P62873|YES&.&.|||||||||0.581|-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|downstream_gene_variant|MODIFIER|GNB1|ENSG00000078369|Transcript|ENST00000434686|protein_coding||||||||||rs1394767075|1|4003|-1|cds_end_NF|SNV|HGNC|HGNC:4396||||3|||ENSP00000392765||F6UT28.70|UPI000268AE0F||1||||||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146||||||||||||||||||||||||-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000439272|protein_coding|9/11||ENST00000439272.7:c.688A>G|ENSP00000399741.3:p.Thr230Ala|853|688|230|T/A|Act/Gct|rs1394767075|1||-1||SNV|HGNC|HGNC:4396||||5|||ENSP00000399741||F6X3N5.69|UPI0000D61E20||1|deleterious_low_confidence(0)|benign(0.094)|CDD:cd00200&PIRSF:PIRSF002394&Pfam:PF00400&Gene3D:2.130.10.10&SMART:SM00320&Superfamily:SSF50978&PROSITE_profiles:PS50082&PROSITE_profiles:PS50294&PANTHER:PTHR19850|||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146|P&P&P|0.89465|0.9681&0.8682&0.9703|ENST00000610897&ENST00000615252&ENST00000378609|D|D&D&D|P&.&P|P&.&P|D|0.87156|0.83386772871|.&.&D|P62873&B3KVK2&P62873|YES&.&.||||||||||-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|non_coding_transcript_exon_variant|MODIFIER|GNB1|ENSG00000078369|Transcript|ENST00000461893|retained_intron|3/3||ENST00000461893.5:n.1183A>G||1183|||||rs1394767075|1||-1||SNV|HGNC|HGNC:4396||||2||||||||1||||||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146||||||||||||||||||||||||-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|non_coding_transcript_exon_variant|MODIFIER|GNB1|ENSG00000078369|Transcript|ENST00000471354|retained_intron|7/7||ENST00000471354.1:n.1331A>G||1331|||||rs1394767075|1||-1||SNV|HGNC|HGNC:4396||||5||||||||1||||||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146||||||||||||||||||||||||-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000610897|protein_coding|9/11||ENST00000610897.4:c.727A>G|ENSP00000481878.1:p.Thr243Ala|1071|727|243|T/A|Act/Gct|rs1394767075|1||-1||SNV|HGNC|HGNC:4396||||5|P1|CCDS34.1|ENSP00000481878|P62873.191|A0A140VJJ8.16|UPI00000230B3|P62873-1|1|deleterious_low_confidence(0.01)|possibly_damaging(0.906)||||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146|P&P&P|0.89465|0.9681&0.8682&0.9703|ENST00000610897&ENST00000615252&ENST00000378609|D|D&D&D|P&.&P|P&.&P|D|0.87156|0.83386772871|.&.&D|P62873&B3KVK2&P62873|YES&.&.||||||||||-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000615252|protein_coding|7/9||ENST00000615252.5:c.427A>G|ENSP00000483532.1:p.Thr143Ala|676|427|143|T/A|Act/Gct|rs1394767075|1||-1||SNV|HGNC|HGNC:4396||||5||CCDS72685.1|ENSP00000483532||B3KVK2.118|UPI00002177A7||1|deleterious_low_confidence(0)|possibly_damaging(0.906)|CDD:cd00200&Pfam:PF00400&Gene3D:2.130.10.10&SMART:SM00320&Superfamily:SSF50978&PROSITE_profiles:PS50294&PROSITE_profiles:PS50082&PANTHER:PTHR19850&AlphaFold_DB_import:AF-B3KVK2-F1|||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146|P&P&P|0.89465|0.9681&0.8682&0.9703|ENST00000610897&ENST00000615252&ENST00000378609|D|D&D&D|P&.&P|P&.&P|D|0.87156|0.83386772871|.&.&D|P62873&B3KVK2&P62873|YES&.&.||||||||||-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703692|protein_coding|10/11||ENST00000703692.1:c.727A>G|ENSP00000515427.1:p.Thr243Ala|950|727|243|T/A|Act/Gct|rs1394767075|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515427||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0.01)|possibly_damaging(0.906)|CDD:cd00200&Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&SMART:SM00320&Superfamily:SSF50978&PROSITE_profiles:PS50082&PROSITE_profiles:PS50294&PANTHER:PTHR19850|||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146|P&P&P|0.89465|0.9681&0.8682&0.9703|ENST00000610897&ENST00000615252&ENST00000378609|D|D&D&D|P&.&P|P&.&P|D|0.87156|0.83386772871|.&.&D|P62873&B3KVK2&P62873|YES&.&.||||||||||-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703693|protein_coding|14/16||ENST00000703693.1:c.727A>G|ENSP00000515428.1:p.Thr243Ala|1437|727|243|T/A|Act/Gct|rs1394767075|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515428||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0.01)|possibly_damaging(0.906)|Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&PROSITE_profiles:PS50082&PROSITE_profiles:PS50294&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978&CDD:cd00200|||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146|P&P&P|0.89465|0.9681&0.8682&0.9703|ENST00000610897&ENST00000615252&ENST00000378609|D|D&D&D|P&.&P|P&.&P|D|0.87156|0.83386772871|.&.&D|P62873&B3KVK2&P62873|YES&.&.||||||||||-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703694|protein_coding|9/10||ENST00000703694.1:c.727A>G|ENSP00000515429.1:p.Thr243Ala|824|727|243|T/A|Act/Gct|rs1394767075|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515429||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0.01)|possibly_damaging(0.906)|Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&PROSITE_profiles:PS50082&PROSITE_profiles:PS50294&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978&CDD:cd00200|||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146|P&P&P|0.89465|0.9681&0.8682&0.9703|ENST00000610897&ENST00000615252&ENST00000378609|D|D&D&D|P&.&P|P&.&P|D|0.87156|0.83386772871|.&.&D|P62873&B3KVK2&P62873|YES&.&.||||||||||-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|synonymous_variant&NMD_transcript_variant|LOW|GNB1|ENSG00000078369|Transcript|ENST00000703695|nonsense_mediated_decay|9/11||ENST00000703695.1:c.525A>G|ENSP00000515430.1:p.Pro175%3D|690|525|175|P|ccA/ccG|rs1394767075|1||-1||SNV|HGNC|HGNC:4396|||||||ENSP00000515430|||UPI0021EC8336||1||||||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146||||||||||||||||||||||||-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703696|protein_coding|10/12||ENST00000703696.1:c.727A>G|ENSP00000515431.1:p.Thr243Ala|972|727|243|T/A|Act/Gct|rs1394767075|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515431||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0.01)|possibly_damaging(0.906)|Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&PROSITE_profiles:PS50082&PROSITE_profiles:PS50294&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978&CDD:cd00200|||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146|P&P&P|0.89465|0.9681&0.8682&0.9703|ENST00000610897&ENST00000615252&ENST00000378609|D|D&D&D|P&.&P|P&.&P|D|0.87156|0.83386772871|.&.&D|P62873&B3KVK2&P62873|YES&.&.||||||||||-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703697|protein_coding|10/11||ENST00000703697.1:c.727A>G|ENSP00000515432.1:p.Thr243Ala|935|727|243|T/A|Act/Gct|rs1394767075|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515432||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0.01)|possibly_damaging(0.906)|Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&PROSITE_profiles:PS50082&PROSITE_profiles:PS50294&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978&CDD:cd00200|||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146|P&P&P|0.89465|0.9681&0.8682&0.9703|ENST00000610897&ENST00000615252&ENST00000378609|D|D&D&D|P&.&P|P&.&P|D|0.87156|0.83386772871|.&.&D|P62873&B3KVK2&P62873|YES&.&.||||||||||-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|upstream_gene_variant|MODIFIER|GNB1|ENSG00000078369|Transcript|ENST00000703698|protein_coding_CDS_not_defined||||||||||rs1394767075|1|798|-1||SNV|HGNC|HGNC:4396||||||||||||1||||||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146||||||||||||||||||||||||-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703699|protein_coding|10/11||ENST00000703699.1:c.727A>G|ENSP00000515433.1:p.Thr243Ala|892|727|243|T/A|Act/Gct|rs1394767075|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515433||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0.01)|possibly_damaging(0.906)|Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&PROSITE_profiles:PS50082&PROSITE_profiles:PS50294&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978&CDD:cd00200|||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146|P&P&P|0.89465|0.9681&0.8682&0.9703|ENST00000610897&ENST00000615252&ENST00000378609|D|D&D&D|P&.&P|P&.&P|D|0.87156|0.83386772871|.&.&D|P62873&B3KVK2&P62873|YES&.&.||||||||||-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703700|protein_coding|10/12||ENST00000703700.1:c.727A>G|ENSP00000515434.1:p.Thr243Ala|851|727|243|T/A|Act/Gct|rs1394767075|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515434||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0.01)|possibly_damaging(0.906)|Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&PROSITE_profiles:PS50082&PROSITE_profiles:PS50294&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978&CDD:cd00200|||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146|P&P&P|0.89465|0.9681&0.8682&0.9703|ENST00000610897&ENST00000615252&ENST00000378609|D|D&D&D|P&.&P|P&.&P|D|0.87156|0.83386772871|.&.&D|P62873&B3KVK2&P62873|YES&.&.||||||||||-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703701|protein_coding|12/14||ENST00000703701.1:c.727A>G|ENSP00000515435.1:p.Thr243Ala|1231|727|243|T/A|Act/Gct|rs1394767075|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515435||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0.01)|possibly_damaging(0.906)|Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&PROSITE_profiles:PS50082&PROSITE_profiles:PS50294&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978&CDD:cd00200|||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146|P&P&P|0.89465|0.9681&0.8682&0.9703|ENST00000610897&ENST00000615252&ENST00000378609|D|D&D&D|P&.&P|P&.&P|D|0.87156|0.83386772871|.&.&D|P62873&B3KVK2&P62873|YES&.&.||||||||||-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703702|protein_coding|11/13||ENST00000703702.1:c.727A>G|ENSP00000515436.1:p.Thr243Ala|1035|727|243|T/A|Act/Gct|rs1394767075|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515436||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0.01)|possibly_damaging(0.906)|CDD:cd00200&Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&SMART:SM00320&Superfamily:SSF50978&PROSITE_profiles:PS50082&PROSITE_profiles:PS50294&PANTHER:PTHR19850|||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146|P&P&P|0.89465|0.9681&0.8682&0.9703|ENST00000610897&ENST00000615252&ENST00000378609|D|D&D&D|P&.&P|P&.&P|D|0.87156|0.83386772871|.&.&D|P62873&B3KVK2&P62873|YES&.&.||||||||||-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703703|protein_coding|10/12||ENST00000703703.1:c.727A>G|ENSP00000515437.1:p.Thr243Ala|998|727|243|T/A|Act/Gct|rs1394767075|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515437||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0.01)|possibly_damaging(0.906)|CDD:cd00200&Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&SMART:SM00320&Superfamily:SSF50978&PROSITE_profiles:PS50082&PROSITE_profiles:PS50294&PANTHER:PTHR19850|||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146|P&P&P|0.89465|0.9681&0.8682&0.9703|ENST00000610897&ENST00000615252&ENST00000378609|D|D&D&D|P&.&P|P&.&P|D|0.87156|0.83386772871|.&.&D|P62873&B3KVK2&P62873|YES&.&.||||||||||-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703704|protein_coding|12/14||ENST00000703704.1:c.727A>G|ENSP00000515438.1:p.Thr243Ala|1259|727|243|T/A|Act/Gct|rs1394767075|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515438||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0.01)|possibly_damaging(0.906)|Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&PROSITE_profiles:PS50082&PROSITE_profiles:PS50294&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978&CDD:cd00200|||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146|P&P&P|0.89465|0.9681&0.8682&0.9703|ENST00000610897&ENST00000615252&ENST00000378609|D|D&D&D|P&.&P|P&.&P|D|0.87156|0.83386772871|.&.&D|P62873&B3KVK2&P62873|YES&.&.||||||||||-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703705|protein_coding|9/11||ENST00000703705.1:c.595A>G|ENSP00000515439.1:p.Thr199Ala|771|595|199|T/A|Act/Gct|rs1394767075|1||-1||SNV|HGNC|HGNC:4396|||||||ENSP00000515439|||UPI0000088585||1|deleterious_low_confidence(0)|possibly_damaging(0.906)|Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&PROSITE_profiles:PS50082&PROSITE_profiles:PS50294&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978&CDD:cd00200|||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146|P&P&P|0.89465|0.9681&0.8682&0.9703|ENST00000610897&ENST00000615252&ENST00000378609|D|D&D&D|P&.&P|P&.&P|D|0.87156|0.83386772871|.&.&D|P62873&B3KVK2&P62873|YES&.&.||||||||||-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703706|protein_coding|11/13||ENST00000703706.1:c.727A>G|ENSP00000515440.1:p.Thr243Ala|1049|727|243|T/A|Act/Gct|rs1394767075|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515440||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0.01)|possibly_damaging(0.906)|Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&PROSITE_profiles:PS50082&PROSITE_profiles:PS50294&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978&CDD:cd00200|||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146|P&P&P|0.89465|0.9681&0.8682&0.9703|ENST00000610897&ENST00000615252&ENST00000378609|D|D&D&D|P&.&P|P&.&P|D|0.87156|0.83386772871|.&.&D|P62873&B3KVK2&P62873|YES&.&.||||||||||-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703707|protein_coding|8/10||ENST00000703707.1:c.688A>G|ENSP00000515441.1:p.Thr230Ala|815|688|230|T/A|Act/Gct|rs1394767075|1||-1||SNV|HGNC|HGNC:4396|||||||ENSP00000515441|||UPI0000D61E20||1|deleterious_low_confidence(0)|benign(0.094)|Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&PROSITE_profiles:PS50082&PROSITE_profiles:PS50294&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978&CDD:cd00200|||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146|P&P&P|0.89465|0.9681&0.8682&0.9703|ENST00000610897&ENST00000615252&ENST00000378609|D|D&D&D|P&.&P|P&.&P|D|0.87156|0.83386772871|.&.&D|P62873&B3KVK2&P62873|YES&.&.||||||||||-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703708|protein_coding|13/15||ENST00000703708.1:c.727A>G|ENSP00000515442.1:p.Thr243Ala|1364|727|243|T/A|Act/Gct|rs1394767075|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515442||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0.01)|possibly_damaging(0.906)|Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&PROSITE_profiles:PS50082&PROSITE_profiles:PS50294&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978&CDD:cd00200|||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146|P&P&P|0.89465|0.9681&0.8682&0.9703|ENST00000610897&ENST00000615252&ENST00000378609|D|D&D&D|P&.&P|P&.&P|D|0.87156|0.83386772871|.&.&D|P62873&B3KVK2&P62873|YES&.&.||||||||||-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703709|protein_coding|11/13||ENST00000703709.1:c.727A>G|ENSP00000515443.1:p.Thr243Ala|948|727|243|T/A|Act/Gct|rs1394767075|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515443||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0.01)|possibly_damaging(0.906)|CDD:cd00200&Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&SMART:SM00320&Superfamily:SSF50978&PROSITE_profiles:PS50082&PROSITE_profiles:PS50294&PANTHER:PTHR19850|||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146|P&P&P|0.89465|0.9681&0.8682&0.9703|ENST00000610897&ENST00000615252&ENST00000378609|D|D&D&D|P&.&P|P&.&P|D|0.87156|0.83386772871|.&.&D|P62873&B3KVK2&P62873|YES&.&.||||||||||-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703710|protein_coding|12/14||ENST00000703710.1:c.727A>G|ENSP00000515444.1:p.Thr243Ala|1276|727|243|T/A|Act/Gct|rs1394767075|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515444||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0.01)|possibly_damaging(0.906)|CDD:cd00200&Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&SMART:SM00320&Superfamily:SSF50978&PROSITE_profiles:PS50082&PROSITE_profiles:PS50294&PANTHER:PTHR19850|||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146|P&P&P|0.89465|0.9681&0.8682&0.9703|ENST00000610897&ENST00000615252&ENST00000378609|D|D&D&D|P&.&P|P&.&P|D|0.87156|0.83386772871|.&.&D|P62873&B3KVK2&P62873|YES&.&.||||||||||-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703711|protein_coding|13/15||ENST00000703711.1:c.727A>G|ENSP00000515445.1:p.Thr243Ala|1257|727|243|T/A|Act/Gct|rs1394767075|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515445||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0.01)|possibly_damaging(0.906)|Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&PROSITE_profiles:PS50082&PROSITE_profiles:PS50294&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978&CDD:cd00200|||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146|P&P&P|0.89465|0.9681&0.8682&0.9703|ENST00000610897&ENST00000615252&ENST00000378609|D|D&D&D|P&.&P|P&.&P|D|0.87156|0.83386772871|.&.&D|P62873&B3KVK2&P62873|YES&.&.||||||||||-10|-26|15|-26|0.00|0.00|0.00|0.00|GNB1||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000344727|CTCF_binding_site||||||||||rs1394767075|1||||SNV||||||||||||||||||||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146||||||||||||||||||||||||||||||||||,C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001164872|enhancer||||||||||rs1394767075|1||||SNV||||||||||||||||||||||||||1.593e-05|0|0|0|0|0|3.525e-05|0|0||||||||||||3.525e-05|gnomADe_NFE|not_provided||1||||||||||||||26.3|3.893146||||||||||||||||||||||||||||||||||
1	1804496	.	T	C	.	.	CSQ=C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000378609|protein_coding|7/12||ENST00000378609.9:c.353A>G|ENSP00000367872.3:p.Asp118Gly|716|353|118|D/G|gAt/gGt|rs1553194162&CM1612300|1||-1||SNV|HGNC|HGNC:4396|YES|NM_002074.5||1|P1|CCDS34.1|ENSP00000367872|P62873.191|A0A140VJJ8.16|UPI00000230B3|P62873-1|1|deleterious_low_confidence(0)|probably_damaging(0.982)||||||||||||||||||||||||||||||||not_provided&pathogenic||1&1||||||||||||||32|4.523403|P&P&P&P&P|0.99219|0.9996&0.9758&0.9995&0.9949&0.9981|ENST00000610897&ENST00000615252&ENST00000378609&ENST00000439272&ENST00000434686|D|D&D&D|D&.&D&.&.|D&.&D&.&.|D|0.93616|0.877460956573|.&.&D&D&D|P62873&B3KVK2&P62873&F6X3N5&F6UT28|YES&.&.&.&.|10819326&25485910&27108799&27668284&28087732|0.70&0.70&0.70&0.70&0.70|Inborn_genetic_diseases||||||0.929|39|-31|1|-49|0.00|0.00|0.01|0.02|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000434686|protein_coding|8/9||ENST00000434686.6:c.353A>G|ENSP00000392765.2:p.Asp118Gly|540|353|118|D/G|gAt/gGt|rs1553194162&CM1612300|1||-1|cds_end_NF|SNV|HGNC|HGNC:4396||||3|||ENSP00000392765||F6UT28.70|UPI000268AE0F||1|deleterious_low_confidence(0)|probably_damaging(0.982)|Gene3D:2.130.10.10&AlphaFold_DB_import:AF-F6UT28-F1&Pfam:PF00400&Prints:PR00319&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978|||||||||||||||||||||||||||||||not_provided&pathogenic||1&1||||||||||||||32|4.523403|P&P&P&P&P|0.99219|0.9996&0.9758&0.9995&0.9949&0.9981|ENST00000610897&ENST00000615252&ENST00000378609&ENST00000439272&ENST00000434686|D|D&D&D|D&.&D&.&.|D&.&D&.&.|D|0.93616|0.877460956573|.&.&D&D&D|P62873&B3KVK2&P62873&F6X3N5&F6UT28|YES&.&.&.&.|10819326&25485910&27108799&27668284&28087732|0.70&0.70&0.70&0.70&0.70|Inborn_genetic_diseases||||||0.929|39|-31|1|-49|0.00|0.00|0.01|0.02|GNB1||,C|downstream_gene_variant|MODIFIER|GNB1|ENSG00000078369|Transcript|ENST00000437146|protein_coding||||||||||rs1553194162&CM1612300|1|30|-1|cds_end_NF|SNV|HGNC|HGNC:4396||||3|||ENSP00000416651||B1AKQ8.114|UPI0003F47E62||1||||||||||||||||||||||||||||||||||not_provided&pathogenic||1&1||||||||||||||32|4.523403|||||||||||||||10819326&25485910&27108799&27668284&28087732|0.70&0.70&0.70&0.70&0.70|Inborn_genetic_diseases|||||||39|-31|1|-49|0.00|0.00|0.01|0.02|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000439272|protein_coding|6/11||ENST00000439272.7:c.314A>G|ENSP00000399741.3:p.Asp105Gly|479|314|105|D/G|gAt/gGt|rs1553194162&CM1612300|1||-1||SNV|HGNC|HGNC:4396||||5|||ENSP00000399741||F6X3N5.69|UPI0000D61E20||1|deleterious_low_confidence(0)|probably_damaging(0.993)|CDD:cd00200&PIRSF:PIRSF002394&Pfam:PF00400&Gene3D:2.130.10.10&SMART:SM00320&Superfamily:SSF50978&PANTHER:PTHR19850&Prints:PR00319&AlphaFold_DB_import:AF-F6X3N5-F1|||||||||||||||||||||||||||||||not_provided&pathogenic||1&1||||||||||||||32|4.523403|P&P&P&P&P|0.99219|0.9996&0.9758&0.9995&0.9949&0.9981|ENST00000610897&ENST00000615252&ENST00000378609&ENST00000439272&ENST00000434686|D|D&D&D|D&.&D&.&.|D&.&D&.&.|D|0.93616|0.877460956573|.&.&D&D&D|P62873&B3KVK2&P62873&F6X3N5&F6UT28|YES&.&.&.&.|10819326&25485910&27108799&27668284&28087732|0.70&0.70&0.70&0.70&0.70|Inborn_genetic_diseases||||||0.929|39|-31|1|-49|0.00|0.00|0.01|0.02|GNB1||,C|non_coding_transcript_exon_variant|MODIFIER|GNB1|ENSG00000078369|Transcript|ENST00000471354|retained_intron|4/7||ENST00000471354.1:n.957A>G||957|||||rs1553194162&CM1612300|1||-1||SNV|HGNC|HGNC:4396||||5||||||||1||||||||||||||||||||||||||||||||||not_provided&pathogenic||1&1||||||||||||||32|4.523403|||||||||||||||10819326&25485910&27108799&27668284&28087732|0.70&0.70&0.70&0.70&0.70|Inborn_genetic_diseases|||||||39|-31|1|-49|0.00|0.00|0.01|0.02|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000610897|protein_coding|6/11||ENST00000610897.4:c.353A>G|ENSP00000481878.1:p.Asp118Gly|697|353|118|D/G|gAt/gGt|rs1553194162&CM1612300|1||-1||SNV|HGNC|HGNC:4396||||5|P1|CCDS34.1|ENSP00000481878|P62873.191|A0A140VJJ8.16|UPI00000230B3|P62873-1|1|deleterious_low_confidence(0)|probably_damaging(0.982)||||||||||||||||||||||||||||||||not_provided&pathogenic||1&1||||||||||||||32|4.523403|P&P&P&P&P|0.99219|0.9996&0.9758&0.9995&0.9949&0.9981|ENST00000610897&ENST00000615252&ENST00000378609&ENST00000439272&ENST00000434686|D|D&D&D|D&.&D&.&.|D&.&D&.&.|D|0.93616|0.877460956573|.&.&D&D&D|P62873&B3KVK2&P62873&F6X3N5&F6UT28|YES&.&.&.&.|10819326&25485910&27108799&27668284&28087732|0.70&0.70&0.70&0.70&0.70|Inborn_genetic_diseases|||||||39|-31|1|-49|0.00|0.00|0.01|0.02|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000615252|protein_coding|4/9||ENST00000615252.5:c.53A>G|ENSP00000483532.1:p.Asp18Gly|302|53|18|D/G|gAt/gGt|rs1553194162&CM1612300|1||-1||SNV|HGNC|HGNC:4396||||5||CCDS72685.1|ENSP00000483532||B3KVK2.118|UPI00002177A7||1|deleterious_low_confidence(0)|probably_damaging(0.982)|CDD:cd00200&Gene3D:2.130.10.10&Superfamily:SSF50978&PANTHER:PTHR19850&AlphaFold_DB_import:AF-B3KVK2-F1|||||||||||||||||||||||||||||||not_provided&pathogenic||1&1||||||||||||||32|4.523403|P&P&P&P&P|0.99219|0.9996&0.9758&0.9995&0.9949&0.9981|ENST00000610897&ENST00000615252&ENST00000378609&ENST00000439272&ENST00000434686|D|D&D&D|D&.&D&.&.|D&.&D&.&.|D|0.93616|0.877460956573|.&.&D&D&D|P62873&B3KVK2&P62873&F6X3N5&F6UT28|YES&.&.&.&.|10819326&25485910&27108799&27668284&28087732|0.70&0.70&0.70&0.70&0.70|Inborn_genetic_diseases|||||||39|-31|1|-49|0.00|0.00|0.01|0.02|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703692|protein_coding|7/11||ENST00000703692.1:c.353A>G|ENSP00000515427.1:p.Asp118Gly|576|353|118|D/G|gAt/gGt|rs1553194162&CM1612300|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515427||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0)|probably_damaging(0.982)|CDD:cd00200&Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&SMART:SM00320&Superfamily:SSF50978&PANTHER:PTHR19850&Prints:PR00319|||||||||||||||||||||||||||||||not_provided&pathogenic||1&1||||||||||||||32|4.523403|P&P&P&P&P|0.99219|0.9996&0.9758&0.9995&0.9949&0.9981|ENST00000610897&ENST00000615252&ENST00000378609&ENST00000439272&ENST00000434686|D|D&D&D|D&.&D&.&.|D&.&D&.&.|D|0.93616|0.877460956573|.&.&D&D&D|P62873&B3KVK2&P62873&F6X3N5&F6UT28|YES&.&.&.&.|10819326&25485910&27108799&27668284&28087732|0.70&0.70&0.70&0.70&0.70|Inborn_genetic_diseases|||||||39|-31|1|-49|0.00|0.00|0.01|0.02|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703693|protein_coding|11/16||ENST00000703693.1:c.353A>G|ENSP00000515428.1:p.Asp118Gly|1063|353|118|D/G|gAt/gGt|rs1553194162&CM1612300|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515428||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0)|probably_damaging(0.982)|Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&Prints:PR00319&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978&CDD:cd00200|||||||||||||||||||||||||||||||not_provided&pathogenic||1&1||||||||||||||32|4.523403|P&P&P&P&P|0.99219|0.9996&0.9758&0.9995&0.9949&0.9981|ENST00000610897&ENST00000615252&ENST00000378609&ENST00000439272&ENST00000434686|D|D&D&D|D&.&D&.&.|D&.&D&.&.|D|0.93616|0.877460956573|.&.&D&D&D|P62873&B3KVK2&P62873&F6X3N5&F6UT28|YES&.&.&.&.|10819326&25485910&27108799&27668284&28087732|0.70&0.70&0.70&0.70&0.70|Inborn_genetic_diseases|||||||39|-31|1|-49|0.00|0.00|0.01|0.02|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703694|protein_coding|6/10||ENST00000703694.1:c.353A>G|ENSP00000515429.1:p.Asp118Gly|450|353|118|D/G|gAt/gGt|rs1553194162&CM1612300|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515429||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0)|probably_damaging(0.982)|Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&Prints:PR00319&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978&CDD:cd00200|||||||||||||||||||||||||||||||not_provided&pathogenic||1&1||||||||||||||32|4.523403|P&P&P&P&P|0.99219|0.9996&0.9758&0.9995&0.9949&0.9981|ENST00000610897&ENST00000615252&ENST00000378609&ENST00000439272&ENST00000434686|D|D&D&D|D&.&D&.&.|D&.&D&.&.|D|0.93616|0.877460956573|.&.&D&D&D|P62873&B3KVK2&P62873&F6X3N5&F6UT28|YES&.&.&.&.|10819326&25485910&27108799&27668284&28087732|0.70&0.70&0.70&0.70&0.70|Inborn_genetic_diseases|||||||39|-31|1|-49|0.00|0.00|0.01|0.02|GNB1||,C|missense_variant&NMD_transcript_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703695|nonsense_mediated_decay|7/11||ENST00000703695.1:c.353A>G|ENSP00000515430.1:p.Asp118Gly|518|353|118|D/G|gAt/gGt|rs1553194162&CM1612300|1||-1||SNV|HGNC|HGNC:4396|||||||ENSP00000515430|||UPI0021EC8336||1|deleterious_low_confidence(0)|probably_damaging(0.917)||||||||||||||||||||||||||||||||not_provided&pathogenic||1&1||||||||||||||32|4.523403|P&P&P&P&P|0.99219|0.9996&0.9758&0.9995&0.9949&0.9981|ENST00000610897&ENST00000615252&ENST00000378609&ENST00000439272&ENST00000434686|D|D&D&D|D&.&D&.&.|D&.&D&.&.|D|0.93616|0.877460956573|.&.&D&D&D|P62873&B3KVK2&P62873&F6X3N5&F6UT28|YES&.&.&.&.|10819326&25485910&27108799&27668284&28087732|0.70&0.70&0.70&0.70&0.70|Inborn_genetic_diseases|||||||39|-31|1|-49|0.00|0.00|0.01|0.02|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703696|protein_coding|7/12||ENST00000703696.1:c.353A>G|ENSP00000515431.1:p.Asp118Gly|598|353|118|D/G|gAt/gGt|rs1553194162&CM1612300|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515431||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0)|probably_damaging(0.982)|Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&Prints:PR00319&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978&CDD:cd00200|||||||||||||||||||||||||||||||not_provided&pathogenic||1&1||||||||||||||32|4.523403|P&P&P&P&P|0.99219|0.9996&0.9758&0.9995&0.9949&0.9981|ENST00000610897&ENST00000615252&ENST00000378609&ENST00000439272&ENST00000434686|D|D&D&D|D&.&D&.&.|D&.&D&.&.|D|0.93616|0.877460956573|.&.&D&D&D|P62873&B3KVK2&P62873&F6X3N5&F6UT28|YES&.&.&.&.|10819326&25485910&27108799&27668284&28087732|0.70&0.70&0.70&0.70&0.70|Inborn_genetic_diseases|||||||39|-31|1|-49|0.00|0.00|0.01|0.02|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703697|protein_coding|7/11||ENST00000703697.1:c.353A>G|ENSP00000515432.1:p.Asp118Gly|561|353|118|D/G|gAt/gGt|rs1553194162&CM1612300|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515432||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0)|probably_damaging(0.982)|Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&Prints:PR00319&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978&CDD:cd00200|||||||||||||||||||||||||||||||not_provided&pathogenic||1&1||||||||||||||32|4.523403|P&P&P&P&P|0.99219|0.9996&0.9758&0.9995&0.9949&0.9981|ENST00000610897&ENST00000615252&ENST00000378609&ENST00000439272&ENST00000434686|D|D&D&D|D&.&D&.&.|D&.&D&.&.|D|0.93616|0.877460956573|.&.&D&D&D|P62873&B3KVK2&P62873&F6X3N5&F6UT28|YES&.&.&.&.|10819326&25485910&27108799&27668284&28087732|0.70&0.70&0.70&0.70&0.70|Inborn_genetic_diseases|||||||39|-31|1|-49|0.00|0.00|0.01|0.02|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703699|protein_coding|7/11||ENST00000703699.1:c.353A>G|ENSP00000515433.1:p.Asp118Gly|518|353|118|D/G|gAt/gGt|rs1553194162&CM1612300|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515433||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0)|probably_damaging(0.982)|Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&Prints:PR00319&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978&CDD:cd00200|||||||||||||||||||||||||||||||not_provided&pathogenic||1&1||||||||||||||32|4.523403|P&P&P&P&P|0.99219|0.9996&0.9758&0.9995&0.9949&0.9981|ENST00000610897&ENST00000615252&ENST00000378609&ENST00000439272&ENST00000434686|D|D&D&D|D&.&D&.&.|D&.&D&.&.|D|0.93616|0.877460956573|.&.&D&D&D|P62873&B3KVK2&P62873&F6X3N5&F6UT28|YES&.&.&.&.|10819326&25485910&27108799&27668284&28087732|0.70&0.70&0.70&0.70&0.70|Inborn_genetic_diseases|||||||39|-31|1|-49|0.00|0.00|0.01|0.02|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703700|protein_coding|7/12||ENST00000703700.1:c.353A>G|ENSP00000515434.1:p.Asp118Gly|477|353|118|D/G|gAt/gGt|rs1553194162&CM1612300|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515434||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0)|probably_damaging(0.982)|Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&Prints:PR00319&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978&CDD:cd00200|||||||||||||||||||||||||||||||not_provided&pathogenic||1&1||||||||||||||32|4.523403|P&P&P&P&P|0.99219|0.9996&0.9758&0.9995&0.9949&0.9981|ENST00000610897&ENST00000615252&ENST00000378609&ENST00000439272&ENST00000434686|D|D&D&D|D&.&D&.&.|D&.&D&.&.|D|0.93616|0.877460956573|.&.&D&D&D|P62873&B3KVK2&P62873&F6X3N5&F6UT28|YES&.&.&.&.|10819326&25485910&27108799&27668284&28087732|0.70&0.70&0.70&0.70&0.70|Inborn_genetic_diseases|||||||39|-31|1|-49|0.00|0.00|0.01|0.02|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703701|protein_coding|9/14||ENST00000703701.1:c.353A>G|ENSP00000515435.1:p.Asp118Gly|857|353|118|D/G|gAt/gGt|rs1553194162&CM1612300|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515435||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0)|probably_damaging(0.982)|Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&Prints:PR00319&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978&CDD:cd00200|||||||||||||||||||||||||||||||not_provided&pathogenic||1&1||||||||||||||32|4.523403|P&P&P&P&P|0.99219|0.9996&0.9758&0.9995&0.9949&0.9981|ENST00000610897&ENST00000615252&ENST00000378609&ENST00000439272&ENST00000434686|D|D&D&D|D&.&D&.&.|D&.&D&.&.|D|0.93616|0.877460956573|.&.&D&D&D|P62873&B3KVK2&P62873&F6X3N5&F6UT28|YES&.&.&.&.|10819326&25485910&27108799&27668284&28087732|0.70&0.70&0.70&0.70&0.70|Inborn_genetic_diseases|||||||39|-31|1|-49|0.00|0.00|0.01|0.02|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703702|protein_coding|8/13||ENST00000703702.1:c.353A>G|ENSP00000515436.1:p.Asp118Gly|661|353|118|D/G|gAt/gGt|rs1553194162&CM1612300|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515436||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0)|probably_damaging(0.982)|CDD:cd00200&Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&SMART:SM00320&Superfamily:SSF50978&PANTHER:PTHR19850&Prints:PR00319|||||||||||||||||||||||||||||||not_provided&pathogenic||1&1||||||||||||||32|4.523403|P&P&P&P&P|0.99219|0.9996&0.9758&0.9995&0.9949&0.9981|ENST00000610897&ENST00000615252&ENST00000378609&ENST00000439272&ENST00000434686|D|D&D&D|D&.&D&.&.|D&.&D&.&.|D|0.93616|0.877460956573|.&.&D&D&D|P62873&B3KVK2&P62873&F6X3N5&F6UT28|YES&.&.&.&.|10819326&25485910&27108799&27668284&28087732|0.70&0.70&0.70&0.70&0.70|Inborn_genetic_diseases|||||||39|-31|1|-49|0.00|0.00|0.01|0.02|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703703|protein_coding|7/12||ENST00000703703.1:c.353A>G|ENSP00000515437.1:p.Asp118Gly|624|353|118|D/G|gAt/gGt|rs1553194162&CM1612300|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515437||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0)|probably_damaging(0.982)|CDD:cd00200&Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&SMART:SM00320&Superfamily:SSF50978&PANTHER:PTHR19850&Prints:PR00319|||||||||||||||||||||||||||||||not_provided&pathogenic||1&1||||||||||||||32|4.523403|P&P&P&P&P|0.99219|0.9996&0.9758&0.9995&0.9949&0.9981|ENST00000610897&ENST00000615252&ENST00000378609&ENST00000439272&ENST00000434686|D|D&D&D|D&.&D&.&.|D&.&D&.&.|D|0.93616|0.877460956573|.&.&D&D&D|P62873&B3KVK2&P62873&F6X3N5&F6UT28|YES&.&.&.&.|10819326&25485910&27108799&27668284&28087732|0.70&0.70&0.70&0.70&0.70|Inborn_genetic_diseases|||||||39|-31|1|-49|0.00|0.00|0.01|0.02|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703704|protein_coding|9/14||ENST00000703704.1:c.353A>G|ENSP00000515438.1:p.Asp118Gly|885|353|118|D/G|gAt/gGt|rs1553194162&CM1612300|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515438||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0)|probably_damaging(0.982)|Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&Prints:PR00319&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978&CDD:cd00200|||||||||||||||||||||||||||||||not_provided&pathogenic||1&1||||||||||||||32|4.523403|P&P&P&P&P|0.99219|0.9996&0.9758&0.9995&0.9949&0.9981|ENST00000610897&ENST00000615252&ENST00000378609&ENST00000439272&ENST00000434686|D|D&D&D|D&.&D&.&.|D&.&D&.&.|D|0.93616|0.877460956573|.&.&D&D&D|P62873&B3KVK2&P62873&F6X3N5&F6UT28|YES&.&.&.&.|10819326&25485910&27108799&27668284&28087732|0.70&0.70&0.70&0.70&0.70|Inborn_genetic_diseases|||||||39|-31|1|-49|0.00|0.00|0.01|0.02|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703705|protein_coding|6/11||ENST00000703705.1:c.221A>G|ENSP00000515439.1:p.Asp74Gly|397|221|74|D/G|gAt/gGt|rs1553194162&CM1612300|1||-1||SNV|HGNC|HGNC:4396|||||||ENSP00000515439|||UPI0000088585||1|deleterious_low_confidence(0)|probably_damaging(0.982)|Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&Prints:PR00319&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978&CDD:cd00200|||||||||||||||||||||||||||||||not_provided&pathogenic||1&1||||||||||||||32|4.523403|P&P&P&P&P|0.99219|0.9996&0.9758&0.9995&0.9949&0.9981|ENST00000610897&ENST00000615252&ENST00000378609&ENST00000439272&ENST00000434686|D|D&D&D|D&.&D&.&.|D&.&D&.&.|D|0.93616|0.877460956573|.&.&D&D&D|P62873&B3KVK2&P62873&F6X3N5&F6UT28|YES&.&.&.&.|10819326&25485910&27108799&27668284&28087732|0.70&0.70&0.70&0.70&0.70|Inborn_genetic_diseases|||||||39|-31|1|-49|0.00|0.00|0.01|0.02|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703706|protein_coding|8/13||ENST00000703706.1:c.353A>G|ENSP00000515440.1:p.Asp118Gly|675|353|118|D/G|gAt/gGt|rs1553194162&CM1612300|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515440||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0)|probably_damaging(0.982)|Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&Prints:PR00319&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978&CDD:cd00200|||||||||||||||||||||||||||||||not_provided&pathogenic||1&1||||||||||||||32|4.523403|P&P&P&P&P|0.99219|0.9996&0.9758&0.9995&0.9949&0.9981|ENST00000610897&ENST00000615252&ENST00000378609&ENST00000439272&ENST00000434686|D|D&D&D|D&.&D&.&.|D&.&D&.&.|D|0.93616|0.877460956573|.&.&D&D&D|P62873&B3KVK2&P62873&F6X3N5&F6UT28|YES&.&.&.&.|10819326&25485910&27108799&27668284&28087732|0.70&0.70&0.70&0.70&0.70|Inborn_genetic_diseases|||||||39|-31|1|-49|0.00|0.00|0.01|0.02|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703707|protein_coding|5/10||ENST00000703707.1:c.314A>G|ENSP00000515441.1:p.Asp105Gly|441|314|105|D/G|gAt/gGt|rs1553194162&CM1612300|1||-1||SNV|HGNC|HGNC:4396|||||||ENSP00000515441|||UPI0000D61E20||1|deleterious_low_confidence(0)|probably_damaging(0.993)|Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&Prints:PR00319&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978&CDD:cd00200|||||||||||||||||||||||||||||||not_provided&pathogenic||1&1||||||||||||||32|4.523403|P&P&P&P&P|0.99219|0.9996&0.9758&0.9995&0.9949&0.9981|ENST00000610897&ENST00000615252&ENST00000378609&ENST00000439272&ENST00000434686|D|D&D&D|D&.&D&.&.|D&.&D&.&.|D|0.93616|0.877460956573|.&.&D&D&D|P62873&B3KVK2&P62873&F6X3N5&F6UT28|YES&.&.&.&.|10819326&25485910&27108799&27668284&28087732|0.70&0.70&0.70&0.70&0.70|Inborn_genetic_diseases|||||||39|-31|1|-49|0.00|0.00|0.01|0.02|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703708|protein_coding|10/15||ENST00000703708.1:c.353A>G|ENSP00000515442.1:p.Asp118Gly|990|353|118|D/G|gAt/gGt|rs1553194162&CM1612300|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515442||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0)|probably_damaging(0.982)|Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&Prints:PR00319&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978&CDD:cd00200|||||||||||||||||||||||||||||||not_provided&pathogenic||1&1||||||||||||||32|4.523403|P&P&P&P&P|0.99219|0.9996&0.9758&0.9995&0.9949&0.9981|ENST00000610897&ENST00000615252&ENST00000378609&ENST00000439272&ENST00000434686|D|D&D&D|D&.&D&.&.|D&.&D&.&.|D|0.93616|0.877460956573|.&.&D&D&D|P62873&B3KVK2&P62873&F6X3N5&F6UT28|YES&.&.&.&.|10819326&25485910&27108799&27668284&28087732|0.70&0.70&0.70&0.70&0.70|Inborn_genetic_diseases|||||||39|-31|1|-49|0.00|0.00|0.01|0.02|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703709|protein_coding|8/13||ENST00000703709.1:c.353A>G|ENSP00000515443.1:p.Asp118Gly|574|353|118|D/G|gAt/gGt|rs1553194162&CM1612300|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515443||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0)|probably_damaging(0.982)|CDD:cd00200&Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&SMART:SM00320&Superfamily:SSF50978&PANTHER:PTHR19850&Prints:PR00319|||||||||||||||||||||||||||||||not_provided&pathogenic||1&1||||||||||||||32|4.523403|P&P&P&P&P|0.99219|0.9996&0.9758&0.9995&0.9949&0.9981|ENST00000610897&ENST00000615252&ENST00000378609&ENST00000439272&ENST00000434686|D|D&D&D|D&.&D&.&.|D&.&D&.&.|D|0.93616|0.877460956573|.&.&D&D&D|P62873&B3KVK2&P62873&F6X3N5&F6UT28|YES&.&.&.&.|10819326&25485910&27108799&27668284&28087732|0.70&0.70&0.70&0.70&0.70|Inborn_genetic_diseases|||||||39|-31|1|-49|0.00|0.00|0.01|0.02|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703710|protein_coding|9/14||ENST00000703710.1:c.353A>G|ENSP00000515444.1:p.Asp118Gly|902|353|118|D/G|gAt/gGt|rs1553194162&CM1612300|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515444||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0)|probably_damaging(0.982)|CDD:cd00200&Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&SMART:SM00320&Superfamily:SSF50978&PANTHER:PTHR19850&Prints:PR00319|||||||||||||||||||||||||||||||not_provided&pathogenic||1&1||||||||||||||32|4.523403|P&P&P&P&P|0.99219|0.9996&0.9758&0.9995&0.9949&0.9981|ENST00000610897&ENST00000615252&ENST00000378609&ENST00000439272&ENST00000434686|D|D&D&D|D&.&D&.&.|D&.&D&.&.|D|0.93616|0.877460956573|.&.&D&D&D|P62873&B3KVK2&P62873&F6X3N5&F6UT28|YES&.&.&.&.|10819326&25485910&27108799&27668284&28087732|0.70&0.70&0.70&0.70&0.70|Inborn_genetic_diseases|||||||39|-31|1|-49|0.00|0.00|0.01|0.02|GNB1||,C|missense_variant|MODERATE|GNB1|ENSG00000078369|Transcript|ENST00000703711|protein_coding|10/15||ENST00000703711.1:c.353A>G|ENSP00000515445.1:p.Asp118Gly|883|353|118|D/G|gAt/gGt|rs1553194162&CM1612300|1||-1||SNV|HGNC|HGNC:4396|||||P1|CCDS34.1|ENSP00000515445||A0A140VJJ8.16|UPI00000230B3||1|deleterious_low_confidence(0)|probably_damaging(0.982)|Gene3D:2.130.10.10&Pfam:PF00400&PIRSF:PIRSF002394&Prints:PR00319&PANTHER:PTHR19850&SMART:SM00320&Superfamily:SSF50978&CDD:cd00200|||||||||||||||||||||||||||||||not_provided&pathogenic||1&1||||||||||||||32|4.523403|P&P&P&P&P|0.99219|0.9996&0.9758&0.9995&0.9949&0.9981|ENST00000610897&ENST00000615252&ENST00000378609&ENST00000439272&ENST00000434686|D|D&D&D|D&.&D&.&.|D&.&D&.&.|D|0.93616|0.877460956573|.&.&D&D&D|P62873&B3KVK2&P62873&F6X3N5&F6UT28|YES&.&.&.&.|10819326&25485910&27108799&27668284&28087732|0.70&0.70&0.70&0.70&0.70|Inborn_genetic_diseases|||||||39|-31|1|-49|0.00|0.00|0.01|0.02|GNB1||