#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FLG	2312	broad.mit.edu	37	1	152280684	152280684	+	Silent	SNP	G	G	C	rs386635457		TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr1:152280684G>C	ENST00000368799.1	-	3	6713	c.6678C>G	c.(6676-6678)ggC>ggG	p.G2226G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2226	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTGTCCCTGGCCCACCAGTG	0.562									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(6676-6678)ggC>ggG		filaggrin							242.0	240.0	240.0					1																	152280684		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280684G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6678C>G	1.37:g.152280684G>C						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G2226G	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6713	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2226			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.6678C>G	CCDS30860.1																																																																																				0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		24	121	24	121	---	---	---	---
CCRL2	9034	broad.mit.edu	37	3	46450522	46450522	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr3:46450522C>T	ENST00000399036.3	+	2	1304	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C	CCRL2_ENST00000400882.2_Missense_Mutation_p.R318C|RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000357392.4_Missense_Mutation_p.R330C|CCRL2_ENST00000400880.3_Missense_Mutation_p.R318C	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	318					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		TTTCCATCTGCGTAGTAACAC	0.512																																						ENST00000399036.3																			0				lung(3)|ovary(1)|urinary_tract(1)	5						c.(952-954)Cgt>Tgt		chemokine (C-C motif) receptor-like 2							148.0	153.0	151.0					3																	46450522		2134	4240	6374	SO:0001583	missense	9034				chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity	g.chr3:46450522C>T	AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"""GPCR / Class A : Chemokine receptors : Atypical"""	1612	protein-coding gene	gene with protein product	"""atypical chemokine receptor 5"""	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.952C>T	3.37:g.46450522C>T	ENSP00000381994:p.Arg318Cys					CCRL2_ENST00000357392.4_Missense_Mutation_p.R330C|CCRL2_ENST00000400882.2_Missense_Mutation_p.R318C|CCRL2_ENST00000400880.3_Missense_Mutation_p.R318C	p.R318C	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	2	1304	+								B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Missense_Mutation	SNP	ENST00000399036.3	37	c.952C>T	CCDS43079.1	.	.	.	.	.	.	.	.	.	.	C	8.900	0.956104	0.18507	.	.	ENSG00000121797	ENST00000399036;ENST00000357392;ENST00000400880;ENST00000400882	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.12	-10.2	0.00374	.	18.041800	0.00899	U	0.002339	T	0.12008	0.0292	N	0.02916	-0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.13229	-1.0517	10	0.22109	T	0.4	.	4.4747	0.11729	0.3124:0.4529:0.091:0.1437	.	330;318	O00421-2;O00421	.;CCRL2_HUMAN	C	318;330;318;318	ENSP00000381994:R318C;ENSP00000349967:R330C;ENSP00000383677:R318C;ENSP00000383678:R318C	ENSP00000349967:R330C	R	+	1	0	CCRL2	46425526	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.356000	0.02609	-2.311000	0.00649	-1.269000	0.01422	CGT		0.512	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343909.2			25	77	25	77	---	---	---	---
DPPA2	151871	broad.mit.edu	37	3	109031399	109031399	+	Silent	SNP	G	G	A			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr3:109031399G>A	ENST00000478945.1	-	3	420	c.174C>T	c.(172-174)taC>taT	p.Y58Y		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	58					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TACCTGGATTGTATTTCTTAG	0.413																																						ENST00000478945.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(172-174)taC>taT		developmental pluripotency associated 2							183.0	167.0	173.0					3																	109031399		2203	4300	6503	SO:0001819	synonymous_variant	151871					nucleus	nucleic acid binding	g.chr3:109031399G>A	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.174C>T	3.37:g.109031399G>A							p.Y58Y	NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN			3	420	-			58					Q8WVF0	Silent	SNP	ENST00000478945.1	37	c.174C>T	CCDS2956.1																																																																																				0.413	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		12	78	12	78	---	---	---	---
FER	2241	broad.mit.edu	37	5	108382846	108382846	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr5:108382846T>C	ENST00000281092.4	+	16	2255	c.1871T>C	c.(1870-1872)aTa>aCa	p.I624T	FER_ENST00000438717.2_Missense_Mutation_p.I449T	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	624	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GTCAAACTTATAGGAGTTTGC	0.313																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(1870-1872)aTa>aCa		fer (fps/fes related) tyrosine kinase							114.0	108.0	110.0					5																	108382846		2202	4298	6500	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108382846T>C	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1871T>C	5.37:g.108382846T>C	ENSP00000281092:p.Ile624Thr					FER_ENST00000438717.2_Missense_Mutation_p.I449T	p.I624T	NM_005246.2	NP_005237.2	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	16	2255	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	624			Protein kinase.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.1871T>C	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.141011	0.77775	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.36340	1.26;1.26	5.33	5.33	0.75918	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.039246	0.85682	D	0.000000	T	0.65739	0.2720	M	0.87971	2.92	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	T	0.72972	-0.4129	10	0.87932	D	0	-23.5949	15.5911	0.76530	0.0:0.0:0.0:1.0	.	624	P16591	FER_HUMAN	T	624;449	ENSP00000281092:I624T;ENSP00000394297:I449T	ENSP00000281092:I624T	I	+	2	0	FER	108410745	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.417000	0.80156	2.145000	0.66743	0.454000	0.30748	ATA		0.313	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		5	43	5	43	---	---	---	---
PPP1R16A	84988	broad.mit.edu	37	8	145726591	145726591	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr8:145726591C>T	ENST00000292539.4	+	10	2034	c.1117C>T	c.(1117-1119)Caa>Taa	p.Q373*	GPT_ENST00000394955.2_5'Flank|GPT_ENST00000528431.1_5'Flank|PPP1R16A_ENST00000435887.1_Nonsense_Mutation_p.Q373*|CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	373						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CATCGTGTGGCAACAGCCGCC	0.716																																						ENST00000292539.4																			0				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8						c.(1117-1119)Caa>Taa		protein phosphatase 1, regulatory subunit 16A							19.0	21.0	20.0					8																	145726591		2180	4277	6457	SO:0001587	stop_gained	84988					plasma membrane	protein binding	g.chr8:145726591C>T		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14941	protein-coding gene	gene with protein product		609172	"""protein phosphatase 1, regulatory (inhibitor) subunit 16A"""			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.1117C>T	8.37:g.145726591C>T	ENSP00000292539:p.Gln373*					PPP1R16A_ENST00000435887.1_Nonsense_Mutation_p.Q373*	p.Q373*			Q96I34	PP16A_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		10	2034	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		373					D3DWM5	Nonsense_Mutation	SNP	ENST00000292539.4	37	c.1117C>T	CCDS6429.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943132	0.92526	.	.	ENSG00000160972	ENST00000292539;ENST00000435887	.	.	.	4.72	3.78	0.43462	.	0.247880	0.36303	N	0.002677	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	11.3091	0.49353	0.183:0.817:0.0:0.0	.	.	.	.	X	373	.	ENSP00000292539:Q373X	Q	+	1	0	PPP1R16A	145697399	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.766000	0.55280	2.153000	0.67306	0.462000	0.41574	CAA		0.716	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	NM_032902		3	10	3	10	---	---	---	---
FANCF	2188	broad.mit.edu	37	11	22647295	22647295	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr11:22647295G>C	ENST00000327470.3	-	1	92	c.62C>G	c.(61-63)aCc>aGc	p.T21S	AC103801.2_ENST00000428556.2_3'UTR	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	21					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GCTGACGTAGGTAGTGCTTGA	0.637			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000327470.3			yes	Rec		Fanconi anaemia F	11	11p15	2188	"""N, F"""	"""Fanconi anemia, complementation group F"""			L		"""AML, leukemia"""			0				kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						c.(61-63)aCc>aGc	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group F							45.0	47.0	46.0					11																	22647295		2203	4300	6503	SO:0001583	missense	2188	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr11:22647295G>C		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"""Fanconi anemia, complementation groups"""	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.62C>G	11.37:g.22647295G>C	ENSP00000330875:p.Thr21Ser					AC103801.2_ENST00000428556.2_3'UTR	p.T21S	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN			1	92	-			21					Q52LM0	Missense_Mutation	SNP	ENST00000327470.3	37	c.62C>G	CCDS7857.1	.	.	.	.	.	.	.	.	.	.	G	0.049	-1.257039	0.01457	.	.	ENSG00000183161	ENST00000327470	T	0.30981	1.51	5.39	0.924	0.19418	.	1.035320	0.07670	N	0.935373	T	0.19005	0.0456	N	0.15975	0.35	0.09310	N	0.999996	B	0.02656	0.0	B	0.08055	0.003	T	0.27938	-1.0059	10	0.20519	T	0.43	-0.8619	12.0326	0.53406	0.0:0.3999:0.4876:0.1125	.	21	Q9NPI8	FANCF_HUMAN	S	21	ENSP00000330875:T21S	ENSP00000330875:T21S	T	-	2	0	FANCF	22603871	0.001000	0.12720	0.002000	0.10522	0.008000	0.06430	0.616000	0.24344	0.327000	0.23409	0.655000	0.94253	ACC		0.637	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725		8	15	8	15	---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35456159	35456159	+	Silent	SNP	C	C	G			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr11:35456159C>G	ENST00000378880.2	-	10	1972	c.1527G>C	c.(1525-1527)ctG>ctC	p.L509L	PAMR1_ENST00000378878.3_Silent_p.L398L|PAMR1_ENST00000532848.1_Silent_p.L469L|PAMR1_ENST00000278360.3_Silent_p.L526L	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	509	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGACCTTCCCCAGGTCAGTAA	0.557																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(1525-1527)ctG>ctC		peptidase domain containing associated with muscle regeneration 1							111.0	98.0	102.0					11																	35456159		2202	4298	6500	SO:0001819	synonymous_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35456159C>G		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1527G>C	11.37:g.35456159C>G						PAMR1_ENST00000378878.3_Silent_p.L398L|PAMR1_ENST00000278360.3_Silent_p.L526L|PAMR1_ENST00000532848.1_Silent_p.L469L	p.L509L	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			10	1972	-			509			Peptidase S1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Silent	SNP	ENST00000378880.2	37	c.1527G>C	CCDS31460.1																																																																																				0.557	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		15	48	15	48	---	---	---	---
FAM181B	220382	broad.mit.edu	37	11	82443541	82443541	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr11:82443541C>T	ENST00000329203.3	-	1	1365	c.1231G>A	c.(1231-1233)Gac>Aac	p.D411N		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	411										large_intestine(1)|lung(2)|prostate(1)	4						CAAACCCCGTCGGATCTCCAA	0.692																																						ENST00000329203.3																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(1231-1233)Gac>Aac		family with sequence similarity 181, member B							11.0	14.0	13.0					11																	82443541		2169	4253	6422	SO:0001583	missense	220382							g.chr11:82443541C>T	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.1231G>A	11.37:g.82443541C>T	ENSP00000365295:p.Asp411Asn						p.D411N	NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN			1	1365	-			411					B2RWP1	Missense_Mutation	SNP	ENST00000329203.3	37	c.1231G>A	CCDS31648.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099700	0.76983	.	.	ENSG00000182103	ENST00000329203	T	0.39056	1.1	4.87	3.91	0.45181	.	.	.	.	.	T	0.45498	0.1345	N	0.24115	0.695	0.21861	N	0.999503	D	0.76494	0.999	P	0.62649	0.905	T	0.22347	-1.0219	8	.	.	.	.	11.7272	0.51716	0.1753:0.8247:0.0:0.0	.	411	A6NEQ2	F181B_HUMAN	N	411	ENSP00000365295:D411N	.	D	-	1	0	FAM181B	82121189	0.643000	0.27269	0.839000	0.33178	0.961000	0.63080	1.075000	0.30716	2.522000	0.85027	0.655000	0.94253	GAC		0.692	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	NM_175885		3	14	3	14	---	---	---	---
SLC2A13	114134	broad.mit.edu	37	12	40158559	40158559	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr12:40158559T>C	ENST00000280871.4	-	8	1597	c.1547A>G	c.(1546-1548)tAt>tGt	p.Y516C		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	516					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GAAGACAAGATATAAAATAAG	0.333										HNSCC(50;0.14)																												ENST00000280871.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29						c.(1546-1548)tAt>tGt		solute carrier family 2 (facilitated glucose transporter), member 13							111.0	124.0	120.0					12																	40158559		2203	4300	6503	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40158559T>C	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1547A>G	12.37:g.40158559T>C	ENSP00000280871:p.Tyr516Cys	HNSCC(50;0.14)					p.Y516C	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN			8	1597	-		Lung NSC(34;0.105)|all_lung(34;0.123)	516					Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.1547A>G	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	T	20.6	4.017176	0.75161	.	.	ENSG00000151229	ENST00000280871	T	0.77229	-1.08	5.39	5.39	0.77823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90752	0.7097	M	0.93150	3.385	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	D	0.93176	0.6570	10	0.87932	D	0	-11.6769	15.4273	0.75061	0.0:0.0:0.0:1.0	.	516	Q96QE2	MYCT_HUMAN	C	516	ENSP00000280871:Y516C	ENSP00000280871:Y516C	Y	-	2	0	SLC2A13	38444826	1.000000	0.71417	0.983000	0.44433	0.914000	0.54420	5.696000	0.68287	2.049000	0.60858	0.528000	0.53228	TAT		0.333	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			7	38	7	38	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57593708	57593708	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr12:57593708G>A	ENST00000243077.3	+	62	10380	c.9914G>A	c.(9913-9915)tGc>tAc	p.C3305Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3305	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGCAACCTGTGCCTGCTGTCC	0.587																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(9913-9915)tGc>tAc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						80.0	77.0	78.0					12																	57593708		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57593708G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.9914G>A	12.37:g.57593708G>A	ENSP00000243077:p.Cys3305Tyr						p.C3305Y	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	62	10380	+			3305			EGF-like 13.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.9914G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400426	0.62177	.	.	ENSG00000123384	ENST00000243077	D	0.99966	-10.09	4.37	4.37	0.52481	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.000000	0.64402	D	0.000001	D	0.99984	0.9995	H	0.99712	4.72	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.99406	1.0929	10	0.72032	D	0.01	.	15.8872	0.79261	0.0:0.0:1.0:0.0	.	3305	Q07954	LRP1_HUMAN	Y	3305	ENSP00000243077:C3305Y	ENSP00000243077:C3305Y	C	+	2	0	LRP1	55879975	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.796000	0.85898	2.272000	0.75746	0.456000	0.33151	TGC		0.587	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		9	48	9	48	---	---	---	---
GAS2L3	283431	broad.mit.edu	37	12	101018420	101018420	+	Silent	SNP	C	C	T			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr12:101018420C>T	ENST00000539410.1	+	9	2223	c.1837C>T	c.(1837-1839)Ctg>Ttg	p.L613L	GAS2L3_ENST00000266754.5_Silent_p.L613L|GAS2L3_ENST00000537247.1_Silent_p.L509L|GAS2L3_ENST00000547754.1_Silent_p.L613L			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	613					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CCGTACCCCACTGTCCATCGT	0.488																																						ENST00000537247.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1525-1527)Ctg>Ttg		growth arrest-specific 2 like 3							99.0	88.0	92.0					12																	101018420		2203	4300	6503	SO:0001819	synonymous_variant	283431				cell cycle arrest			g.chr12:101018420C>T	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1837C>T	12.37:g.101018420C>T						GAS2L3_ENST00000539410.1_Silent_p.L613L|GAS2L3_ENST00000547754.1_Silent_p.L613L|GAS2L3_ENST00000266754.5_Silent_p.L613L	p.L509L			Q86XJ1	GA2L3_HUMAN			10	2479	+			613					B2RCN2	Silent	SNP	ENST00000539410.1	37	c.1525C>T	CCDS9079.1																																																																																				0.488	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		10	35	10	35	---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85402608	85402608	+	Nonsense_Mutation	SNP	G	G	T	rs142686791		TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr15:85402608G>T	ENST00000258888.5	+	7	4725	c.4558G>T	c.(4558-4560)Gag>Tag	p.E1520*		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1520	Ig-like 2.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCCAGTGGGCGAGGTGGGCAG	0.552																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(4558-4560)Gag>Tag		alpha-kinase 3							65.0	56.0	59.0					15																	85402608		2203	4299	6502	SO:0001587	stop_gained	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85402608G>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4558G>T	15.37:g.85402608G>T	ENSP00000258888:p.Glu1520*						p.E1520*	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		7	4725	+			1520			Ig-like 2.		Q9P2L6	Nonsense_Mutation	SNP	ENST00000258888.5	37	c.4558G>T	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	45	11.739213	0.99597	.	.	ENSG00000136383	ENST00000258888	.	.	.	5.65	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-32.2291	9.244	0.37513	0.1651:0.0:0.8349:0.0	.	.	.	.	X	1520	.	ENSP00000258888:E1520X	E	+	1	0	ALPK3	83203612	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	5.050000	0.64251	2.664000	0.90586	0.655000	0.94253	GAG		0.552	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		8	34	8	34	---	---	---	---
SEMA3F	6405	broad.mit.edu	37	3	50225399	50225399	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr3:50225399delC	ENST00000002829.3	+	19	2693	c.2209delC	c.(2209-2211)ccafs	p.P737fs	SEMA3F_ENST00000413852.1_Frame_Shift_Del_p.P638fs|SEMA3F_ENST00000434342.1_Frame_Shift_Del_p.P706fs	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	737					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GCTGGCCCAGCCAGAAGTGGG	0.697																																						ENST00000002829.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(2209-2211)ccafs		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F							8.0	10.0	9.0					3																	50225399		2170	4243	6413	SO:0001589	frameshift_variant	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50225399delC	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.2209delC	3.37:g.50225399delC	ENSP00000002829:p.Pro737fs					SEMA3F_ENST00000413852.1_Frame_Shift_Del_p.P638fs|SEMA3F_ENST00000434342.1_Frame_Shift_Del_p.P706fs	p.P737fs	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	19	2693	+			737					C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Frame_Shift_Del	DEL	ENST00000002829.3	37	c.2209delC	CCDS2811.1																																																																																				0.697	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		2	4	2	4	---	---	---	---
