#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
MACF1	23499	broad.mit.edu	37	1	39761487	39761487	+	Missense_Mutation	SNP	T	T	G			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr1:39761487T>G	ENST00000372915.3	+	19	2390	c.2303T>G	c.(2302-2304)tTg>tGg	p.L768W	MACF1_ENST00000361689.2_Missense_Mutation_p.L768W|MACF1_ENST00000564288.1_Missense_Mutation_p.L763W|MACF1_ENST00000539005.1_Missense_Mutation_p.L768W|MACF1_ENST00000317713.7_Missense_Mutation_p.L768W|MACF1_ENST00000545844.1_Missense_Mutation_p.L768W|MACF1_ENST00000567887.1_Missense_Mutation_p.L800W			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	768					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGTCCCAGTTGCAGTGGATG	0.433																																						uc021olt.1																			0		p.K768K(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(2302-2304)tTg>tGg		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							368.0	305.0	327.0					1																	39761487		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39761487T>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.2303T>G	1.37:g.39761487T>G	ENSP00000362006:p.Leu768Trp					MACF1_uc021ols.1_Missense_Mutation_p.L768W|MACF1_uc001cdc.2_Missense_Mutation_p.L768W|MACF1_uc001cda.1_Missense_Mutation_p.L676W	p.L768W	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		18	2355	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	768					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.2303T>G		.	.	.	.	.	.	.	.	.	.	T	7.280	0.608970	0.14066	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	D;D;D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25;-3.25;-3.25	5.65	4.56	0.56223	.	.	.	.	.	T	0.63367	0.2505	N	0.00010	-3.045	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.10450	0.001;0.005	T	0.73275	-0.4034	9	0.02654	T	1	.	10.8253	0.46629	0.0:0.0:0.4005:0.5995	.	768;733	F8W8Q1;Q9UPN3-3	.;.	W	768;768;768;768;768;726;917;928	ENSP00000439537:L768W;ENSP00000362006:L768W;ENSP00000354573:L768W;ENSP00000313438:L768W;ENSP00000444364:L768W;ENSP00000435070:L726W;ENSP00000437059:L917W	ENSP00000313438:L768W	L	+	2	0	MACF1	39534074	1.000000	0.71417	0.965000	0.40720	0.922000	0.55478	7.271000	0.78506	2.149000	0.67028	0.533000	0.62120	TTG		0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
COA7	65260	broad.mit.edu	37	1	53158443	53158443	+	Missense_Mutation	SNP	C	C	T			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr1:53158443C>T	ENST00000371538.3	-	2	242	c.203G>A	c.(202-204)aGt>aAt	p.S68N	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2														breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						GCAGCTATCACTGTGCTGGTT	0.502																																						uc001cui.2																			0				breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						c.(202-204)aGt>aAt		Homo sapiens Sel1 repeat containing 1 (SELRC1), mRNA.							134.0	132.0	132.0					1																	53158443		2203	4300	6503	SO:0001583	missense	65260						binding	g.chr1:53158443C>T																												ENST00000371538.3:c.203G>A	1.37:g.53158443C>T	ENSP00000360593:p.Ser68Asn						p.S68N	NM_023077	NP_075565	Q96BR5	SELR1_HUMAN			1	243	-			68						Missense_Mutation	SNP	ENST00000371538.3	37	c.203G>A	CCDS570.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697954	0.48307	.	.	ENSG00000162377	ENST00000371538	T	0.51071	0.72	6.0	5.04	0.67666	Tetratricopeptide-like helical (1);	0.183708	0.64402	D	0.000017	T	0.52500	0.1738	M	0.66939	2.045	0.35171	D	0.771558	B	0.31459	0.324	B	0.36534	0.227	T	0.65047	-0.6263	10	0.59425	D	0.04	-12.4389	16.7532	0.85492	0.0:0.8711:0.1289:0.0	.	68	Q96BR5	SELR1_HUMAN	N	68	ENSP00000360593:S68N	ENSP00000360593:S68N	S	-	2	0	SELRC1	52931031	0.997000	0.39634	0.968000	0.41197	0.376000	0.30014	3.194000	0.51005	2.848000	0.98002	0.655000	0.94253	AGT		0.502	SELRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023462.1		
PRG4	10216	broad.mit.edu	37	1	186277611	186277614	+	Frame_Shift_Del	DEL	AGAA	AGAA	-			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr1:186277611_186277614delAGAA	ENST00000445192.2	+	7	2805_2808	c.2760_2763delAGAA	c.(2758-2763)acagaafs	p.TE920fs	PRG4_ENST00000367484.3_Frame_Shift_Del_p.TE449fs|PRG4_ENST00000367483.4_Frame_Shift_Del_p.TE879fs|PRG4_ENST00000367486.3_Frame_Shift_Del_p.TE877fs|PRG4_ENST00000367485.4_Frame_Shift_Del_p.TE827fs	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	920					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACAAGACAACAGAAAGAGACTTAC	0.412																																						uc001gru.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2758-2763)acagaafs		Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.																																				SO:0001589	frameshift_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186277611_186277614delAGAA	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2760_2763delAGAA	1.37:g.186277611_186277614delAGAA	ENSP00000399679:p.Thr920fs					MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Frame_Shift_Del_p.T879fs|PRG4_uc009wyl.3_Frame_Shift_Del_p.T827fs|PRG4_uc009wym.3_Frame_Shift_Del_p.T786fs|PRG4_uc010poo.2_Non-coding_Transcript	p.T920fs	NM_005807	NP_005798	Q92954	PRG4_HUMAN			6	2811_2814	+			920					Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Frame_Shift_Del	DEL	ENST00000445192.2	37	c.2760_2763delAGAA	CCDS1369.1																																																																																				0.412	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807	
ITIH2	3698	broad.mit.edu	37	10	7771922	7771922	+	Silent	SNP	A	A	T			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr10:7771922A>T	ENST00000358415.4	+	12	1453	c.1287A>T	c.(1285-1287)ctA>ctT	p.L429L	ITIH2_ENST00000379587.4_Silent_p.L418L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	429	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TAGGCGAACTAAAACTGTCAA	0.373																																						uc001ijs.3																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1285-1287)ctA>ctT		Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.							86.0	80.0	82.0					10																	7771922		2203	4300	6503	SO:0001819	synonymous_variant	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7771922A>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1287A>T	10.37:g.7771922A>T							p.L429L	NM_002216	NP_002207	P19823	ITIH2_HUMAN			11	1449	+			429			VWFA.		Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	c.1287A>T	CCDS31141.1																																																																																				0.373	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216	
LOC440040	440040	broad.mit.edu	37	11	49598207	49598207	+	RNA	SNP	T	T	C	rs71479502|rs3750925	byFrequency	TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr11:49598207T>C	ENST00000527477.1	+	0	811																											TCCTCTTCCTTCTGCTCCAAG	0.502													T|||	2233	0.445887	0.1853	0.5922	5008	,	,		18293	0.5526		0.5517	False		,,,				2504	0.4755					uc010rhy.2																			0											c.(319-321)tTc>tCc		Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																																						440040							g.chr11:49598207T>C																													11.37:g.49598207T>C						LOC440040_uc009ymb.3_Missense_Mutation_p.F107S	p.F107S							1	798	+									Missense_Mutation	SNP	ENST00000527477.1	37	c.320T>C																																																																																					0.502	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2		
CLPB	81570	broad.mit.edu	37	11	72012979	72012979	+	Frame_Shift_Del	DEL	G	G	-			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr11:72012979delG	ENST00000294053.3	-	12	1460	c.1287delC	c.(1285-1287)ggcfs	p.G429fs	CLPB_ENST00000538021.1_Frame_Shift_Del_p.G37fs|CLPB_ENST00000538039.1_Frame_Shift_Del_p.G399fs|CLPB_ENST00000437826.2_Frame_Shift_Del_p.G384fs|CLPB_ENST00000340729.5_Frame_Shift_Del_p.G370fs|AP000593.7_ENST00000546065.1_RNA|CLPB_ENST00000543042.1_Frame_Shift_Del_p.G228fs	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	429					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GGCCAACGTAGCCTGGTGGAG	0.522																																						uc001osj.3																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						c.(1285-1287)ggcfs		Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.							129.0	110.0	116.0					11																	72012979		2200	4293	6493	SO:0001589	frameshift_variant	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72012979delG	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.1287delC	11.37:g.72012979delG	ENSP00000294053:p.Gly429fs					CLPB_uc010rqx.2_Frame_Shift_Del_p.G384fs|CLPB_uc010rqy.2_Frame_Shift_Del_p.G370fs|CLPB_uc001osk.3_Frame_Shift_Del_p.G399fs|CLPB_uc010rqz.2_Frame_Shift_Del_p.G228fs|CLPB_uc001osi.3_Frame_Shift_Del_p.G37fs	p.G429fs	NM_030813	NP_110440	Q9H078	CLPB_HUMAN			11	1337	-			429					B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Frame_Shift_Del	DEL	ENST00000294053.3	37	c.1287delC	CCDS8215.1																																																																																				0.522	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813	
HEPHL1	341208	broad.mit.edu	37	11	93844970	93844970	+	Silent	SNP	G	G	A	rs118037969	byFrequency	TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr11:93844970G>A	ENST00000315765.9	+	20	3398	c.3390G>A	c.(3388-3390)acG>acA	p.T1130T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1130					copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.T1134T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TAATCACCACGGTGATTCTCT	0.507													G|||	9	0.00179712	0.0008	0.0043	5008	,	,		19650	0.0		0.005	False		,,,				2504	0.0					uc001pep.2																			1	Substitution - coding silent(1)	p.L1130P(1)|p.T1134T(1)	lung(1)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(3388-3390)acG>acA		Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.		G		6,3936		0,6,1965	138.0	136.0	137.0		3390	-10.9	0.0	11	dbSNP_132	137	74,8256		0,74,4091	no	coding-synonymous	HEPHL1	NM_001098672.1		0,80,6056	AA,AG,GG		0.8884,0.1522,0.6519		1130/1160	93844970	80,12192	1971	4165	6136	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93844970G>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.3390G>A	11.37:g.93844970G>A						AF086184_uc001pen.1_Intron	p.T1130T	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			19	3547	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	1130					Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.3390G>A	CCDS44710.1																																																																																				0.507	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947	
AMN1	196394	broad.mit.edu	37	12	31850308	31850308	+	Missense_Mutation	SNP	G	G	A			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr12:31850308G>A	ENST00000281471.6	-	5	743	c.578C>T	c.(577-579)gCg>gTg	p.A193V	AMN1_ENST00000537562.1_Missense_Mutation_p.A175V|AMN1_ENST00000542781.1_5'UTR|AMN1_ENST00000541931.1_5'UTR|AMN1_ENST00000536761.1_Missense_Mutation_p.A175V	NM_001113402.1|NM_001278411.1|NM_001278412.1	NP_001106873.1|NP_001265340.1|NP_001265341.1	Q8IY45	AMN1_HUMAN	antagonist of mitotic exit network 1 homolog (S. cerevisiae)	193										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			TAATTTCTTCGCACAAGGTCC	0.338																																						uc001rkq.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7						c.(577-579)gCg>gTg		Homo sapiens antagonist of mitotic exit network 1 homolog (S. cerevisiae) (AMN1), transcript variant 1, mRNA.							106.0	95.0	98.0					12																	31850308		1821	4092	5913	SO:0001583	missense	196394							g.chr12:31850308G>A		CCDS44858.1, CCDS61089.1	12p11.21	2010-07-19			ENSG00000151743	ENSG00000151743			27281	protein-coding gene	gene with protein product							Standard	NM_001113402		Approved		uc001rkq.4	Q8IY45	OTTHUMG00000169192	ENST00000281471.6:c.578C>T	12.37:g.31850308G>A	ENSP00000281471:p.Ala193Val					AMN1_uc001rko.4_Missense_Mutation_p.A175V|AMN1_uc010skc.2_Missense_Mutation_p.A175V|AMN1_uc009zjs.3_Non-coding_Transcript|AMN1_uc009zjt.1_Non-coding_Transcript	p.A193V	NM_001113402	NP_001106873	Q8IY45	AMN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0014)		4	744	-	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		193					B7Z7J3|Q6NVU4|Q86X98	Missense_Mutation	SNP	ENST00000281471.6	37	c.578C>T	CCDS44858.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359078	0.61403	.	.	ENSG00000151743	ENST00000281471;ENST00000537562;ENST00000536761;ENST00000535408	T;T;T;T	0.17370	2.28;2.28;2.28;4.3	5.9	5.9	0.94986	.	0.148158	0.45606	D	0.000346	T	0.12347	0.0300	L	0.36672	1.1	0.80722	D	1	P	0.36483	0.555	B	0.24541	0.054	T	0.13176	-1.0519	10	0.18710	T	0.47	.	15.779	0.78246	0.0:0.0:1.0:0.0	.	193	Q8IY45	AMN1_HUMAN	V	193;175;175;175	ENSP00000281471:A193V;ENSP00000441419:A175V;ENSP00000440967:A175V;ENSP00000438990:A175V	ENSP00000281471:A193V	A	-	2	0	AMN1	31741575	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.565000	0.53798	2.788000	0.95919	0.650000	0.86243	GCG		0.338	AMN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402807.2	NR_004854	
MARCH9	92979	broad.mit.edu	37	12	58152585	58152585	+	Missense_Mutation	SNP	A	A	G			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr12:58152585A>G	ENST00000266643.5	+	4	1377	c.946A>G	c.(946-948)Aca>Gca	p.T316A	MARCH9_ENST00000548358.1_Missense_Mutation_p.T203A	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	316					protein ubiquitination (GO:0016567)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CTGCGGTTATACAATCTTGCA	0.652																																						uc001spx.2																			0				autonomic_ganglia(1)|large_intestine(2)|lung(1)	4						c.(946-948)Aca>Gca		Homo sapiens membrane-associated ring finger (C3HC4) 9 (MARCH9), mRNA.							29.0	29.0	29.0					12																	58152585		2202	4300	6502	SO:0001583	missense	92979					Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding	g.chr12:58152585A>G	BC009489	CCDS31847.1	12q14.1	2013-01-09				ENSG00000139266		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	25139	protein-coding gene	gene with protein product		613336				14722266	Standard	NM_138396		Approved	RNF179, FLJ36578	uc001spx.2	Q86YJ5		ENST00000266643.5:c.946A>G	12.37:g.58152585A>G	ENSP00000266643:p.Thr316Ala					MARCH9_uc001spy.3_Missense_Mutation_p.T203A	p.T316A	NM_138396	NP_612405	Q86YJ5	MARH9_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		3	1377	+	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		316					B2R9U9|Q86VN5|Q96GG2	Missense_Mutation	SNP	ENST00000266643.5	37	c.946A>G	CCDS31847.1	.	.	.	.	.	.	.	.	.	.	A	18.86	3.714244	0.68730	.	.	ENSG00000139266	ENST00000266643;ENST00000548358	T;T	0.34275	2.26;1.37	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.58337	0.2115	M	0.68317	2.08	0.54753	D	0.999987	D;P	0.71674	0.998;0.881	D;P	0.87578	0.998;0.527	T	0.58999	-0.7536	10	0.51188	T	0.08	.	14.8138	0.70017	1.0:0.0:0.0:0.0	.	203;316	Q86YJ5-2;Q86YJ5	.;MARH9_HUMAN	A	316;203	ENSP00000266643:T316A;ENSP00000446758:T203A	ENSP00000266643:T316A	T	+	1	0	MARCH9	56438852	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.510000	0.90532	2.330000	0.79161	0.533000	0.62120	ACA		0.652	MARCH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409244.1	NM_138396	
PMFBP1	83449	broad.mit.edu	37	16	72184633	72184633	+	Silent	SNP	C	C	T			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr16:72184633C>T	ENST00000237353.10	-	5	771	c.510G>A	c.(508-510)aaG>aaA	p.K170K	PMFBP1_ENST00000355636.6_Silent_p.K25K|PMFBP1_ENST00000537465.1_Silent_p.K170K	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	170						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GAGAGGCGATCTTGTCCCCGG	0.498																																						uc002fcc.4																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(508-510)aaG>aaA		Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.							121.0	113.0	116.0					16																	72184633		2198	4300	6498	SO:0001819	synonymous_variant	83449							g.chr16:72184633C>T	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.510G>A	16.37:g.72184633C>T						PMFBP1_uc002fcd.3_Silent_p.K170K|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Silent_p.K25K	p.K170K	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			4	682	-		Ovarian(137;0.179)	170					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Silent	SNP	ENST00000237353.10	37	c.510G>A	CCDS32483.1																																																																																				0.498	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293	
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(1057)|p.R248Q(565)|p.R248L(70)|p.R155W(28)|p.R248G(24)|p.R248P(16)|p.R248R(12)|p.N247N(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.M246_P250delMNRRP(4)|p.N247_R248>KW(4)|p.N247_R248delNR(4)|p.N247T(4)|p.R248fs*97(4)|p.N247I(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247K(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.N247_R248>IP(2)|p.R248fs*>39(1)|p.unknown(1)|p.N247F(1)|p.N247fs*98(1)|p.R248Y(1)|p.G245fs*14(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.3_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R248W	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	936	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
BRIP1	83990	broad.mit.edu	37	17	59876469	59876469	+	Silent	SNP	G	G	A	rs200581792		TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr17:59876469G>A	ENST00000259008.2	-	9	1599	c.1332C>T	c.(1330-1332)agC>agT	p.S444S	BRIP1_ENST00000577598.1_Silent_p.S444S	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	444					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ACTTAATGAGGCTACAGCACA	0.358			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					G|||	1	0.000199681	0.0	0.0	5008	,	,		17568	0.0		0.001	False		,,,				2504	0.0					uc002izk.2			yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	"""F, N, Mis"""	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		"""AML, leukemia, breast"""			0				NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						c.(1330-1332)agC>agT	Involved in tolerance or repair of DNA crosslinks	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.							135.0	131.0	133.0					17																	59876469		2203	4300	6503	SO:0001819	synonymous_variant	83990				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59876469G>A	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.1332C>T	17.37:g.59876469G>A							p.S444S	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			8	1638	-			444					Q3MJE2|Q8NCI5	Silent	SNP	ENST00000259008.2	37	c.1332C>T	CCDS11631.1																																																																																				0.358	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043	
COLEC12	81035	broad.mit.edu	37	18	334801	334801	+	Missense_Mutation	SNP	G	G	A			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr18:334801G>A	ENST00000400256.3	-	6	1964	c.1757C>T	c.(1756-1758)tCa>tTa	p.S586L		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	586	Collagen-like 3.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CACCGCTCCTGATGGGCCAGG	0.701																																						uc002kkm.3																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46						c.(1756-1758)tCa>tTa		Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.							25.0	24.0	25.0					18																	334801		2203	4299	6502	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:334801G>A	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1757C>T	18.37:g.334801G>A	ENSP00000383115:p.Ser586Leu						p.S586L	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			5	1972	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	586			Collagen-like 3.		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.1757C>T	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.221175	0.39201	.	.	ENSG00000158270	ENST00000400256	D	0.93133	-3.17	5.26	4.38	0.52667	.	0.695945	0.13908	N	0.354441	D	0.87716	0.6247	N	0.25332	0.735	0.19300	N	0.999977	B	0.16396	0.017	B	0.20184	0.028	T	0.77742	-0.2474	10	0.38643	T	0.18	-0.7109	8.8654	0.35282	0.0748:0.0:0.7753:0.1499	.	586	Q5KU26	COL12_HUMAN	L	586	ENSP00000383115:S586L	ENSP00000383115:S586L	S	-	2	0	COLEC12	324801	1.000000	0.71417	0.030000	0.17652	0.137000	0.21094	4.553000	0.60753	1.192000	0.43071	0.462000	0.41574	TCA		0.701	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1		
ALK	238	broad.mit.edu	37	2	29917797	29917797	+	Missense_Mutation	SNP	G	G	A			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr2:29917797G>A	ENST00000389048.3	-	3	1777	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	291	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GGGATGCGGCGCCAGGACCAG	0.602			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002rmy.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"""T, Mis, A"""	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	neuroblastoma	"""ALCL, NSCLC, Neuroblastoma"""	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(871-873)Cgc>Tgc		Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	Adenosine triphosphate(DB00171)						98.0	96.0	96.0					2																	29917797		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29917797G>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.871C>T	2.37:g.29917797G>A	ENSP00000373700:p.Arg291Cys						p.R291C	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			2	1823	-	Acute lymphoblastic leukemia(172;0.155)		291			MAM 1.		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.871C>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708085	0.89018	.	.	ENSG00000171094	ENST00000389048	T	0.02280	4.36	5.97	5.97	0.96955	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	.	.	.	.	T	0.04634	0.0126	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68432	-0.5410	8	.	.	.	.	15.924	0.79597	0.0:0.0:1.0:0.0	.	291	Q9UM73	ALK_HUMAN	C	291	ENSP00000373700:R291C	.	R	-	1	0	ALK	29771301	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.713000	0.54882	2.828000	0.97474	0.655000	0.94253	CGC		0.602	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	
SFTPB	6439	broad.mit.edu	37	2	85892915	85892915	+	Silent	SNP	G	G	A	rs529554098		TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr2:85892915G>A	ENST00000519937.2	-	5	415	c.396C>T	c.(394-396)gaC>gaT	p.D132D	SFTPB_ENST00000393822.3_Silent_p.D144D|SFTPB_ENST00000409383.1_Silent_p.D144D|SFTPB_ENST00000342375.3_Silent_p.D132D			P07988	PSPB_HUMAN	surfactant protein B	132	Saposin B-type 1. {ECO:0000255|PROSITE- ProRule:PRU00415}.				organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						TGCCGTTTGAGTCCTGGGGCA	0.642													g|||	1	0.000199681	0.0	0.0	5008	,	,		17428	0.0		0.0	False		,,,				2504	0.001					uc002sqj.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						c.(430-432)gaC>gaT		Homo sapiens surfactant protein B (SFTPB), transcript variant 1, mRNA.							38.0	37.0	37.0					2																	85892915		2203	4300	6503	SO:0001819	synonymous_variant	6439				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		g.chr2:85892915G>A	J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"""surfactant, pulmonary-associated protein B"""	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.396C>T	2.37:g.85892915G>A						SFTPB_uc002sqi.3_Silent_p.D144D|SFTPB_uc002sqh.3_Silent_p.D144D	p.D144D	NM_000542	NP_942140	P07988	PSPB_HUMAN			5	532	-			132			Saposin B-type 1.		Q96R04	Silent	SNP	ENST00000519937.2	37	c.432C>T		.	.	.	.	.	.	.	.	.	.	g	4.628	0.116760	0.08881	.	.	ENSG00000168878	ENST00000428225	.	.	.	4.74	-0.928	0.10448	.	.	.	.	.	T	0.18800	0.0451	.	.	.	0.19775	N	0.999952	.	.	.	.	.	.	T	0.23619	-1.0183	4	.	.	.	-3.8911	0.855	0.01180	0.3026:0.1722:0.3695:0.1557	.	.	.	.	F	129	.	.	L	-	1	0	SFTPB	85746426	0.103000	0.21917	0.004000	0.12327	0.040000	0.13550	0.376000	0.20535	0.072000	0.16694	-0.265000	0.10407	CTC		0.642	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252499.3	NM_198843	
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.3				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Ggt		Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.							81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>C		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>G	2.37:g.209113113G>C	ENSP00000390265:p.Arg132Gly					IDH1_uc002vct.3_Missense_Mutation_p.R132G|IDH1_uc002vcu.3_Missense_Mutation_p.R132G	p.R132G	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	3	640	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286370	0.80803	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.98312	1.0524	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	G	132	ENSP00000260985:R132G;ENSP00000410513:R132G;ENSP00000390265:R132G;ENSP00000391075:R132G	ENSP00000260985:R132G	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1		
DNAJC13	23317	broad.mit.edu	37	3	132198097	132198097	+	Silent	SNP	G	G	A	rs61748099	byFrequency	TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr3:132198097G>A	ENST00000260818.6	+	25	2984	c.2736G>A	c.(2734-2736)agG>agA	p.R912R		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	912					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AACGAGATAGGTTGATTCTCT	0.294																																						uc003eor.3																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(2734-2736)agG>agA		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.		G		7,4399	11.4+/-27.6	0,7,2196	120.0	106.0	111.0		2736	-1.2	0.9	3	dbSNP_129	111	25,8569	19.2+/-60.6	0,25,4272	no	coding-synonymous	DNAJC13	NM_015268.3		0,32,6468	AA,AG,GG		0.2909,0.1589,0.2462		912/2244	132198097	32,12968	2203	4297	6500	SO:0001819	synonymous_variant	23317						heat shock protein binding	g.chr3:132198097G>A	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2736G>A	3.37:g.132198097G>A							p.R912R	NM_015268	NP_056083	O75165	DJC13_HUMAN			24	2801	+			912					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	ENST00000260818.6	37	c.2736G>A	CCDS33857.1																																																																																				0.294	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268	
WDR1	9948	broad.mit.edu	37	4	10080542	10080542	+	Silent	SNP	G	G	A			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr4:10080542G>A	ENST00000499869.2	-	12	1561	c.1368C>T	c.(1366-1368)ggC>ggT	p.G456G	WDR1_ENST00000502702.1_Silent_p.G316G|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000382452.2_Silent_p.G456G|WDR1_ENST00000382451.2_Silent_p.G316G|MIR3138_ENST00000585238.1_RNA			O75083	WDR1_HUMAN	WD repeat domain 1	456					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCGTGTCCCCGCCGGGGTGCA	0.592																																						uc021xlv.1																			0				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12						c.(1366-1368)ggC>ggT		Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.							74.0	90.0	85.0					4																	10080542		2000	4163	6163	SO:0001819	synonymous_variant	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10080542G>A	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1368C>T	4.37:g.10080542G>A						WDR1_uc021xlw.1_Silent_p.G316G|WDR1_uc010idm.3_Non-coding_Transcript|MIR3138_uc021xlx.1_5'Flank	p.G456G	NM_017491	NP_059830	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	11	1651	-			456					A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Silent	SNP	ENST00000499869.2	37	c.1368C>T	CCDS54740.1																																																																																				0.592	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1		
FRYL	285527	broad.mit.edu	37	4	48621289	48621289	+	Splice_Site	SNP	A	A	G			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr4:48621289A>G	ENST00000503238.1	-	4	411		c.e4+1		FRYL_ENST00000537810.1_Splice_Site|FRYL_ENST00000507711.1_Splice_Site|FRYL_ENST00000264319.7_Splice_Site|FRYL_ENST00000358350.4_Splice_Site			O94915	FRYL_HUMAN	FRY-like						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAAAGAGCTTACCTGCTTTAG	0.363																																						uc003gyh.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.e7+1		Homo sapiens FRY-like (FRYL), mRNA.							136.0	126.0	129.0					4																	48621289		1831	4092	5923	SO:0001630	splice_region_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48621289A>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.411+1T>C	4.37:g.48621289A>G						FRYL_uc003gyk.3_Splice_Site_p.Q137_splice|FRYL_uc003gyl.1_Missense_Mutation_p.V189A	p.Q137_splice	NM_015030	NP_055845	O94915	FRYL_HUMAN			7	1016	-			137					O95640|Q8WTZ5|Q9NT40	Splice_Site	SNP	ENST00000503238.1	37	c.411_splice	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.812220	0.90707	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FRYL	48316046	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	.		0.363	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		Intron
NFKB1	4790	broad.mit.edu	37	4	103518775	103518775	+	Missense_Mutation	SNP	G	G	A	rs139575566	byFrequency	TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr4:103518775G>A	ENST00000505458.1	+	15	1868	c.1591G>A	c.(1591-1593)Gtc>Atc	p.V531I	NFKB1_ENST00000600343.1_Missense_Mutation_p.V351I|NFKB1_ENST00000394820.4_Missense_Mutation_p.V531I|NFKB1_ENST00000226574.4_Missense_Mutation_p.V532I			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	531	Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.V532I(1)		biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	GCTGCTGGCCGTCCAGCGCCA	0.522													G|||	2	0.000399361	0.0	0.0	5008	,	,		21806	0.001		0.001	False		,,,				2504	0.0					uc011ceq.2																			1	Substitution - Missense(1)	p.V532I(1)	breast(1)	biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1591-1593)Gtc>Atc		Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1), transcript variant 2, mRNA.	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	115.0	102.0	107.0		1591,1594	4.6	1.0	4	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NFKB1	NM_001165412.1,NM_003998.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	531/969,532/970	103518775	1,13005	2203	4300	6503	SO:0001583	missense	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103518775G>A	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.1591G>A	4.37:g.103518775G>A	ENSP00000424790:p.Val531Ile					NFKB1_uc011cep.2_Missense_Mutation_p.V532I|NFKB1_uc011cer.2_Missense_Mutation_p.V351I	p.V531I	NM_001165412	NP_001158884	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	14	2058	+		Hepatocellular(203;0.217)	531			Interaction with CFLAR.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	c.1591G>A	CCDS54783.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	15.05	2.717020	0.48622	0.0	1.16E-4	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458	T;T;T	0.63913	-0.07;-0.07;-0.07	4.64	4.64	0.57946	Ankyrin repeat-containing domain (1);	0.252545	0.32687	N	0.005763	T	0.69052	0.3068	M	0.63428	1.95	0.35903	D	0.830515	D;P;D	0.65815	0.966;0.922;0.995	B;B;P	0.52710	0.312;0.266;0.707	T	0.72571	-0.4253	10	0.23302	T	0.38	.	17.7248	0.88362	0.0:0.0:1.0:0.0	.	351;531;532	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	I	532;531;531	ENSP00000226574:V532I;ENSP00000378297:V531I;ENSP00000424790:V531I	ENSP00000226574:V532I	V	+	1	0	NFKB1	103737813	1.000000	0.71417	0.969000	0.41365	0.996000	0.88848	3.529000	0.53532	2.419000	0.82065	0.655000	0.94253	GTC		0.522	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1		
PIK3R1	5295	broad.mit.edu	37	5	67591098	67591109	+	In_Frame_Del	DEL	ACAGCATTAAAC	ACAGCATTAAAC	-			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr5:67591098_67591109delACAGCATTAAAC	ENST00000521381.1	+	13	2307_2318	c.1691_1702delACAGCATTAAAC	c.(1690-1704)aacagcattaaacca>aca	p.564_568NSIKP>T	PIK3R1_ENST00000396611.1_In_Frame_Del_p.564_568NSIKP>T|PIK3R1_ENST00000523872.1_In_Frame_Del_p.201_205NSIKP>T|PIK3R1_ENST00000320694.8_In_Frame_Del_p.264_268NSIKP>T|PIK3R1_ENST00000336483.5_In_Frame_Del_p.294_298NSIKP>T|PIK3R1_ENST00000521657.1_In_Frame_Del_p.564_568NSIKP>T|PIK3R1_ENST00000274335.5_In_Frame_Del_p.564_568NSIKP>T	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	564					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.N564K(2)|p.K267_L270delKPDL(1)|p.0?(1)|p.?(1)|p.K297E(1)|p.N294K(1)|p.N264K(1)|p.D560_S565del(1)|p.K567_L570delKPDL(1)|p.K567E(1)|p.K267E(1)|p.K297_L300delKPDL(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AAACGTATGAACAGCATTAAACCAGACCTTAT	0.373			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		13	Substitution - Missense(7)|Deletion - In frame(4)|Whole gene deletion(1)|Unknown(1)	p.N564D(4)|p.N564K(4)|p.K567E(3)|p.D560_S565del(2)|p.K567_L570delKPDL(2)|p.R562_M563ins13(1)|p.K267_L270delKPDL(1)|p.0?(1)|p.?(1)|p.K297E(1)|p.N294K(1)|p.N264K(1)|p.K267E(1)|p.K297_L300delKPDL(1)|p.N564fs*?(1)	endometrium(6)|breast(3)|central_nervous_system(2)|large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1690-1704)aacagcattaaacca>aca		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591098_67591109delACAGCATTAAAC	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1691_1702delACAGCATTAAAC	5.37:g.67591098_67591109delACAGCATTAAAC	ENSP00000428056:p.Asn564_Pro568delinsThr	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_In_Frame_Del_p.264_268NSIKP>T|PIK3R1_uc003jvd.3_In_Frame_Del_p.294_298NSIKP>T|PIK3R1_uc003jve.3_In_Frame_Del_p.243_247NSIKP>T|PIK3R1_uc021xzn.1_In_Frame_Del_p.201_205NSIKP>T|PIK3R1_uc011crb.2_In_Frame_Del_p.234_238NSIKP>T	p.564_568NSIKP>T	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	12	2271_2282	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	564					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1691_1702delACAGCATTAAAC	CCDS3993.1																																																																																				0.373	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
GRINA	2907	broad.mit.edu	37	8	145065758	145065758	+	Missense_Mutation	SNP	C	C	G			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr8:145065758C>G	ENST00000313269.5	+	2	645	c.367C>G	c.(367-369)Caa>Gaa	p.Q123E	GRINA_ENST00000395068.4_Missense_Mutation_p.Q123E	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	123	Pro-rich.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTCCCAGGACAAGACCCTGA	0.672																																						uc003zan.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9						c.(367-369)Caa>Gaa		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) (GRINA), transcript variant 2, mRNA.							17.0	21.0	20.0					8																	145065758		2073	4226	6299	SO:0001583	missense	2907					integral to membrane		g.chr8:145065758C>G	NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01						4589	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 3"""	138251		NMDARA1		1719427, 8406459	Standard	XM_005250899		Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.367C>G	8.37:g.145065758C>G	ENSP00000314380:p.Gln123Glu					GRINA_uc003zao.1_Missense_Mutation_p.Q123E|GRINA_uc003zap.1_Missense_Mutation_p.Q123E	p.Q123E	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	533	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		123			Pro-rich.		B3KXM7|O43836|Q8IVW7	Missense_Mutation	SNP	ENST00000313269.5	37	c.367C>G	CCDS34961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.915|9.915	1.210526|1.210526	0.22289|0.22289	.|.	.|.	ENSG00000178719|ENSG00000178719	ENST00000313269;ENST00000529301;ENST00000395068;ENST00000537637|ENST00000534791;ENST00000533044	T;T;T|.	0.22336|.	1.98;1.96;1.98|.	4.33|4.33	3.41|3.41	0.39046|0.39046	.|.	3.431410|.	0.00794|.	N|.	0.001373|.	T|T	0.29882|0.29882	0.0747|0.0747	N|N	0.17723|0.17723	0.515|0.515	0.24248|0.24248	N|N	0.995337|0.995337	B|.	0.16166|.	0.016|.	B|.	0.18871|.	0.023|.	T|T	0.18777|0.18777	-1.0326|-1.0326	10|5	0.21540|.	T|.	0.41|.	-0.6188|-0.6188	9.7977|9.7977	0.40744|0.40744	0.2067:0.7933:0.0:0.0|0.2067:0.7933:0.0:0.0	.|.	123|.	Q7Z429|.	GRINA_HUMAN|.	E|R	123;123;123;104|46;12	ENSP00000314380:Q123E;ENSP00000432706:Q123E;ENSP00000378507:Q123E|.	ENSP00000314380:Q123E|.	Q|T	+|+	1|2	0|0	GRINA|GRINA	145137746|145137746	0.821000|0.821000	0.29204|0.29204	0.094000|0.094000	0.20943|0.20943	0.476000|0.476000	0.33039|0.33039	2.398000|2.398000	0.44486|0.44486	1.075000|1.075000	0.40932|0.40932	0.585000|0.585000	0.79938|0.79938	CAA|ACA		0.672	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384048.1	NM_001009184	
TYRP1	7306	broad.mit.edu	37	9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-	rs387906562|rs369807922		TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr9:12702411_12702414delACAA	ENST00000388918.5	+	5	1183_1186	c.1054_1057delACAA	c.(1054-1059)acaaacfs	p.TN352fs	RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs|TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	352					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.N353fs*31(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCCAACTCTACAAACAGTTTCCG	0.387									Oculocutaneous Albinism																													uc003zkv.4																			2	Deletion - Frameshift(2)	p.N353fs*31(4)	NS(1)|lung(1)	NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22	GRCh37	CD085016	TYRP1	D		c.(1054-1059)acaaacfs		Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.																																				SO:0001589	frameshift_variant	7306	Oculocutaneous Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12702411_12702414delACAA	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1054_1057delACAA	9.37:g.12702411_12702414delACAA	ENSP00000373570:p.Thr352fs						p.T352fs	NM_000550	NP_000541	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	4	1232_1235	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	352					P78468|P78469|Q13721|Q15679	Frame_Shift_Del	DEL	ENST00000388918.5	37	c.1054_1057delACAA	CCDS34990.1																																																																																				0.387	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550	
ATRX	546	broad.mit.edu	37	X	76814207	76814208	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chrX:76814207_76814208delTG	ENST00000373344.5	-	29	6650_6651	c.6436_6437delCA	c.(6436-6438)cagfs	p.Q2146fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.Q2108fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2146	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GAATATACTCTGGATGTCATAA	0.337			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6436-6438)cagfs		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76814207_76814208delTG	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6436_6437delCA	X.37:g.76814207_76814208delTG	ENSP00000362441:p.Gln2146fs					ATRX_uc004ecq.4_Frame_Shift_Del_p.Q2108fs|ATRX_uc004eco.4_Frame_Shift_Del_p.Q1931fs	p.Q2146fs	NM_000489	NP_000480	P46100	ATRX_HUMAN			28	6668_6669	-			2146			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.6436_6437delCA	CCDS14434.1																																																																																				0.337	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
