#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SPZ1	84654	broad.mit.edu	37	5	79616416	79616416	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr5:79616416C>T	ENST00000296739.4	+	1	627	c.382C>T	c.(382-384)Cct>Tct	p.P128S		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	128					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AACAAACCTGCCTGTTAGTTT	0.363																																						ENST00000296739.4																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26						c.(382-384)Cct>Tct		spermatogenic leucine zipper 1							58.0	52.0	54.0					5																	79616416		1804	4062	5866	SO:0001583	missense	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79616416C>T		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.382C>T	5.37:g.79616416C>T	ENSP00000369611:p.Pro128Ser						p.P128S	NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	627	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	128					B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	c.382C>T	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	C	0.035	-1.310272	0.01342	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.40476	1.03;1.62	1.73	1.73	0.24493	.	.	.	.	.	T	0.19565	0.0470	N	0.22421	0.69	0.09310	N	1	P	0.40144	0.704	B	0.32624	0.149	T	0.06991	-1.0796	9	0.09843	T	0.71	.	5.3684	0.16127	0.3345:0.6655:0.0:0.0	.	128	Q9BXG8	SPZ1_HUMAN	S	128	ENSP00000426530:P128S;ENSP00000369611:P128S	ENSP00000369611:P128S	P	+	1	0	SPZ1	79652172	0.000000	0.05858	0.010000	0.14722	0.244000	0.25665	-0.048000	0.11944	1.301000	0.44836	0.313000	0.20887	CCT		0.363	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		30	45	0	0	0	0.125774	0	30	45				
PCDHA11	56138	broad.mit.edu	37	5	140249978	140249978	+	Silent	SNP	T	T	C			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr5:140249978T>C	ENST00000398640.2	+	1	1290	c.1290T>C	c.(1288-1290)ggT>ggC	p.G430G	PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	430	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGATGGGGGTTCGCCTTCTC	0.617																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1288-1290)ggT>ggC									140.0	148.0	145.0					5																	140249978		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140249978T>C	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1290T>C	5.37:g.140249978T>C						PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron	p.G430G	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1290	+								B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.1290T>C	CCDS47284.1																																																																																				0.617	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		37	90	0	0	0	0.092188	0	37	90				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000342960.5_Silent_p.L384L|NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		5	50	0	0	0	0.184627	0	5	50				
CD40LG	959	broad.mit.edu	37	X	135741431	135741431	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chrX:135741431G>A	ENST00000370629.2	+	5	699	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	CD40LG_ENST00000370628.2_Missense_Mutation_p.A194T	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	215					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					CCACAGTTCCGCCAAACCTTG	0.493									Immune Deficiency with Hyper-IgM																													ENST00000370629.2																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26						c.(643-645)Gcc>Acc		CD40 ligand	Atorvastatin(DB01076)						230.0	216.0	221.0					X																	135741431		2203	4300	6503	SO:0001583	missense	959	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	g.chrX:135741431G>A	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.643G>A	X.37:g.135741431G>A	ENSP00000359663:p.Ala215Thr					CD40LG_ENST00000370628.2_Missense_Mutation_p.A194T	p.A215T	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN			5	699	+	Acute lymphoblastic leukemia(192;0.000127)		215						Missense_Mutation	SNP	ENST00000370629.2	37	c.643G>A	CCDS14659.1	.	.	.	.	.	.	.	.	.	.	G	0.835	-0.743824	0.03088	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	D;D	0.93953	-3.32;-3.32	5.47	-4.05	0.03998	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.432878	0.23616	N	0.046285	T	0.71904	0.3395	N	0.00841	-1.15	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.01281	0.0;0.0	T	0.67643	-0.5618	10	0.40728	T	0.16	-16.5706	3.5732	0.07925	0.4753:0.0696:0.3046:0.1506	.	194;215	Q3L8U2;P29965	.;CD40L_HUMAN	T	215;194	ENSP00000359663:A215T;ENSP00000359662:A194T	ENSP00000359662:A194T	A	+	1	0	CD40LG	135569097	0.013000	0.17824	0.102000	0.21198	0.029000	0.11900	0.478000	0.22212	-0.761000	0.04670	-2.302000	0.00260	GCC		0.493	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074		6	268	0	0	0	0.029380	0	6	268				
ERCC6L2	375748	broad.mit.edu	37	9	98775227	98775227	+	Silent	SNP	A	A	G			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr9:98775227A>G	ENST00000407474.3	+	4	1851	c.1338A>G	c.(1336-1338)tcA>tcG	p.S446S				Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	1476					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										AAGTTCTTTCAGGGCCCATGG	0.398																																						ENST00000407474.3																			0											c.(1336-1338)tcA>tcG		excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2							33.0	34.0	33.0					9																	98775227		2203	4300	6503	SO:0001819	synonymous_variant	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98775227A>G	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000407474.3:c.1338A>G	9.37:g.98775227A>G							p.S446S			Q5T890	RAD26_HUMAN			4	1851	+			15					A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Silent	SNP	ENST00000407474.3	37	c.1338A>G		.	.	.	.	.	.	.	.	.	.	A	8.700	0.909570	0.17833	.	.	ENSG00000182150	ENST00000320486	.	.	.	5.24	4.09	0.47781	.	.	.	.	.	T	0.59662	0.2210	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56147	-0.8027	4	.	.	.	.	9.5835	0.39501	0.6022:0.0:0.0:0.3978	.	.	.	.	R	437	.	.	Q	+	2	0	C9orf102	97815048	0.424000	0.25490	0.991000	0.47740	0.946000	0.59487	0.948000	0.29096	1.001000	0.39076	0.529000	0.55759	CAG		0.398	ERCC6L2-201	KNOWN	basic	protein_coding	protein_coding		NM_001010895		10	20	0	0	0	0.058154	0	10	20				
CIC	23152	broad.mit.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr19:42791757C>T	ENST00000575354.2	+	5	683	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000572681.2_Missense_Mutation_p.R1124W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		4	Substitution - Missense(4)	p.R215W(4)	central_nervous_system(4)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3370-3372)Cgg>Tgg		capicua transcriptional repressor							64.0	64.0	64.0					19																	42791757		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791757C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.643C>T	19.37:g.42791757C>T	ENSP00000458663:p.Arg215Trp					CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W	p.R1124W			Q96RK0	CIC_HUMAN			6	3438	+		Prostate(69;0.00682)	215			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3370C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199892	0.58126	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.82033	0.4949	M	0.93241	3.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.85234	0.1034	8	0.87932	D	0	-14.3323	9.6958	0.40156	0.2069:0.7931:0.0:0.0	.	215	Q96RK0	CIC_HUMAN	W	215	.	ENSP00000160740:R215W	R	+	1	2	CIC	47483597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.293000	0.59037	2.284000	0.76573	0.555000	0.69702	CGG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			10	15	0	0	0	0.058154	0	10	15				
ATP1A2	477	broad.mit.edu	37	1	160098456	160098456	+	Silent	SNP	G	G	C			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr1:160098456G>C	ENST00000361216.3	+	9	1121	c.1032G>C	c.(1030-1032)ctG>ctC	p.L344L	ATP1A2_ENST00000392233.3_Silent_p.L344L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	344					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCTGACCCTGACAGCCAAGC	0.572																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(1030-1032)ctG>ctC		ATPase, Na+/K+ transporting, alpha 2 polypeptide							83.0	77.0	79.0					1																	160098456		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160098456G>C	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1032G>C	1.37:g.160098456G>C						ATP1A2_ENST00000392233.3_Silent_p.L344L|ATP1A2_ENST00000472488.1_3'UTR	p.L344L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		9	1121	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		344					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.1032G>C	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	8.661	0.900587	0.17686	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.77	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0569	0.53540	0.0858:0.0:0.9142:0.0	.	.	.	.	S	55	.	.	X	+	2	2	ATP1A2	158365080	0.990000	0.36364	1.000000	0.80357	0.929000	0.56500	0.128000	0.15810	1.141000	0.42275	0.561000	0.74099	TGA		0.572	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		3	58	0	0	0	0.115264	0	3	58				
GPR125	166647	broad.mit.edu	37	4	22390382	22390382	+	Missense_Mutation	SNP	T	T	C	rs372378305		TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr4:22390382T>C	ENST00000334304.5	-	19	3181	c.2912A>G	c.(2911-2913)aAt>aGt	p.N971S	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	971					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ATCCTGATGATTTATTTCGCC	0.433																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2911-2913)aAt>aGt		G protein-coupled receptor 125		T	SER/ASN	0,4406		0,0,2203	97.0	96.0	97.0		2912	-5.6	0.0	4		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR125	NM_145290.2	46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	971/1322	22390382	1,13005	2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390382T>C	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2912A>G	4.37:g.22390382T>C	ENSP00000334952:p.Asn971Ser					GPR125_ENST00000282943.5_5'UTR	p.N971S	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			19	3181	-		Breast(46;0.198)	971					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.2912A>G	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	T	0.018	-1.471435	0.01044	0.0	1.16E-4	ENSG00000152990	ENST00000334304	T	0.52057	0.68	5.84	-5.55	0.02536	GPCR, family 2-like (1);	0.655837	0.16888	N	0.195424	T	0.17195	0.0413	N	0.12182	0.205	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.09377	0.002;0.004	T	0.28202	-1.0051	10	0.09084	T	0.74	-1.4819	3.624	0.08107	0.149:0.1154:0.4383:0.2974	.	828;971	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	S	971	ENSP00000334952:N971S	ENSP00000334952:N971S	N	-	2	0	GPR125	21999480	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.041000	0.12084	-1.137000	0.02888	0.528000	0.53228	AAT		0.433	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			26	60	0	0	0	0.099896	0	26	60				
IRX2	153572	broad.mit.edu	37	5	2749842	2749842	+	Silent	SNP	G	G	A			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr5:2749842G>A	ENST00000382611.6	-	2	557	c.309C>T	c.(307-309)taC>taT	p.Y103Y	C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000505778.1_5'Flank|IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.Y103Y|C5orf38_ENST00000397835.4_5'Flank|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000515640.1_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	103					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CCGCGCTGCCGTACGGGTGGT	0.672																																						ENST00000382611.6																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(307-309)taC>taT		iroquois homeobox 2							69.0	65.0	66.0					5																	2749842		2203	4299	6502	SO:0001819	synonymous_variant	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749842G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.309C>T	5.37:g.2749842G>A						IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.Y103Y	p.Y103Y	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	2	557	-			103					Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	37	c.309C>T	CCDS3868.1																																																																																				0.672	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			18	18	0	0	0	0.204396	0	18	18				
ZNF366	167465	broad.mit.edu	37	5	71739768	71739768	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr5:71739768C>A	ENST00000318442.5	-	5	2540	c.2050G>T	c.(2050-2052)Ggg>Tgg	p.G684W	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	684	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CCCTCTGCCCCAAGGTCACCC	0.602																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(2050-2052)Ggg>Tgg		zinc finger protein 366							149.0	143.0	145.0					5																	71739768		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71739768C>A	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.2050G>T	5.37:g.71739768C>A	ENSP00000313158:p.Gly684Trp						p.G684W	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	5	2540	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	684					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.2050G>T	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054395	0.36277	.	.	ENSG00000178175	ENST00000318442	T	0.08546	3.08	5.58	1.22	0.21188	.	0.775564	0.12128	N	0.497036	T	0.05547	0.0146	N	0.24115	0.695	0.09310	N	1	P	0.47106	0.89	B	0.39971	0.315	T	0.34850	-0.9812	10	0.66056	D	0.02	-9.5907	5.7707	0.18251	0.0:0.4455:0.134:0.4204	.	684	Q8N895	ZN366_HUMAN	W	684	ENSP00000313158:G684W	ENSP00000313158:G684W	G	-	1	0	ZNF366	71775524	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.691000	0.25467	0.399000	0.25367	0.655000	0.94253	GGG		0.602	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			4	140	1	0	0.150653	0.150653	0.160373	4	140				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	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.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(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>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		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.chr2:209113112C>T		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.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			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.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			26	45	0	0	0	0.116897	0	26	45				
SRGAP2	23380	broad.mit.edu	37	1	206566948	206566948	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr1:206566948G>A	ENST00000414007.1	+	3	329	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	250	F-BAR domain.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					ATCAAAGCCCGGAATGAGTAC	0.428																																						ENST00000414007.1																			0				NS(1)|breast(1)|kidney(1)|lung(1)	4						c.(328-330)cGg>cAg		SLIT-ROBO Rho GTPase activating protein 2							130.0	112.0	118.0					1																	206566948		1969	4170	6139	SO:0001583	missense	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206566948G>A	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.329G>A	1.37:g.206566948G>A	ENSP00000390898:p.Arg110Gln					SRGAP2_ENST00000419187.2_5'UTR	p.R110Q			O75044	FNBP2_HUMAN			3	329	+	Breast(84;0.137)		250						Missense_Mutation	SNP	ENST00000414007.1	37	c.329G>A		.	.	.	.	.	.	.	.	.	.	g	36	5.713609	0.96830	.	.	ENSG00000163486	ENST00000414359;ENST00000414007	T	0.15603	2.41	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.46889	0.1416	.	.	.	0.80722	D	1.000000	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.975;0.988	T	0.43845	-0.9366	8	0.87932	D	0	.	19.9082	0.97015	0.0:0.0:1.0:0.0	rs2987928	97;250;250	B4DDU0;O75044;B7Z3G4	.;FNBP2_HUMAN;.	Q	164;110	ENSP00000390898:R110Q	ENSP00000390898:R110Q	R	+	2	0	SRGAP2	204633571	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.864000	0.99589	2.705000	0.92388	0.555000	0.69702	CGG		0.428	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		3	57	0	0	0	0.115264	0	3	57				
RP11-24M17.5	0	broad.mit.edu	37	15	76074504	76074504	+	RNA	SNP	C	C	T	rs146281026	byFrequency	TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr15:76074504C>T	ENST00000395215.3	+	0	683				RN7SL319P_ENST00000480656.2_RNA																							TGAACGCACACGTGACACAGG	0.572													.|||	95	0.0189696	0.0121	0.0159	5008	,	,		16950	0.0635		0.001	False		,,,				2504	0.0031					ENST00000395215.3																			0																																																			0							g.chr15:76074504C>T																													15.37:g.76074504C>T														0	683	+									RNA	SNP	ENST00000395215.3	37																																																																																						0.572	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			3	31	0	0	0	0.115264	0	3	31				
FBLN1	2192	broad.mit.edu	37	22	45996261	45996261	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr22:45996261G>A	ENST00000327858.6	+	17	2142	c.2047G>A	c.(2047-2049)Ggg>Agg	p.G683R	FBLN1_ENST00000348697.2_Missense_Mutation_p.G683R	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	683					embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTATGTGGTCGGGGGCGTGGT	0.612																																						ENST00000348697.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30						c.(2047-2049)Ggg>Agg		fibulin 1							235.0	215.0	222.0					22																	45996261		2203	4300	6503	SO:0001583	missense	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45996261G>A		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.2047G>A	22.37:g.45996261G>A	ENSP00000331544:p.Gly683Arg					FBLN1_ENST00000327858.6_Missense_Mutation_p.G683R	p.G683R			P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	20	2194	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	683					B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.2047G>A	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303697	0.81136	.	.	ENSG00000077942	ENST00000348697;ENST00000327858	D;D	0.82619	-1.54;-1.63	5.49	5.49	0.81192	.	0.592732	0.18516	N	0.138919	T	0.79822	0.4512	N	0.19112	0.55	0.40341	D	0.979039	D	0.67145	0.996	P	0.51385	0.668	T	0.76236	-0.3033	10	0.15499	T	0.54	.	19.3752	0.94505	0.0:0.0:1.0:0.0	.	683	P23142	FBLN1_HUMAN	R	683	ENSP00000262723:G683R;ENSP00000331544:G683R	ENSP00000331544:G683R	G	+	1	0	FBLN1	44374925	0.949000	0.32298	0.999000	0.59377	0.986000	0.74619	2.817000	0.48034	2.576000	0.86940	0.591000	0.81541	GGG		0.612	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		24	250	0	0	0	0.069288	0	24	250				
PIK3R1	5295	broad.mit.edu	37	5	67591097	67591097	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr5:67591097A>G	ENST00000521381.1	+	13	2306	c.1690A>G	c.(1690-1692)Aac>Gac	p.N564D	PIK3R1_ENST00000320694.8_Missense_Mutation_p.N264D|PIK3R1_ENST00000336483.5_Missense_Mutation_p.N294D|PIK3R1_ENST00000521657.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000396611.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000523872.1_Missense_Mutation_p.N201D|PIK3R1_ENST00000274335.5_Missense_Mutation_p.N564D	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.N564D(4)|p.D560_S565del(1)|p.0?(1)|p.?(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)	CAAACGTATGAACAGCATTAA	0.373			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		7	Substitution - Missense(4)|Whole gene deletion(1)|Deletion - In frame(1)|Unknown(1)	p.N564D(4)|p.D560_S565del(1)|p.0?(1)|p.?(1)	large_intestine(3)|central_nervous_system(2)|lung(1)|endometrium(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.(1690-1692)Aac>Gac		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)						146.0	145.0	146.0					5																	67591097		2203	4300	6503	SO:0001583	missense	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.chr5:67591097A>G	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.1690A>G	5.37:g.67591097A>G	ENSP00000428056:p.Asn564Asp	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000396611.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000523872.1_Missense_Mutation_p.N201D|PIK3R1_ENST00000336483.5_Missense_Mutation_p.N294D|PIK3R1_ENST00000274335.5_Missense_Mutation_p.N564D|PIK3R1_ENST00000320694.8_Missense_Mutation_p.N264D|PIK3R1_ENST00000521657.1_Missense_Mutation_p.N564D	p.N564D	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2306	+		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	Missense_Mutation	SNP	ENST00000521381.1	37	c.1690A>G	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.694508	0.88830	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.51822	0.1697	M	0.84846	2.72	0.80722	D	1	B;B;B;P	0.50272	0.162;0.107;0.082;0.933	B;B;B;P	0.53450	0.202;0.352;0.236;0.726	T	0.61535	-0.7043	10	0.66056	D	0.02	-28.8288	14.3587	0.66754	1.0:0.0:0.0:0.0	.	234;294;264;564	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	D	564;564;564;564;264;294;201	ENSP00000428056:N564D;ENSP00000429277:N564D;ENSP00000379855:N564D;ENSP00000274335:N564D;ENSP00000323512:N264D;ENSP00000338554:N294D;ENSP00000430098:N201D	ENSP00000274335:N564D	N	+	1	0	PIK3R1	67626853	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.087000	0.94110	2.036000	0.60181	0.377000	0.23210	AAC		0.373	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		30	59	0	0	0	0.134883	0	30	59				
NLRP4	147945	broad.mit.edu	37	19	56369920	56369920	+	Silent	SNP	C	C	T			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr19:56369920C>T	ENST00000301295.6	+	3	1583	c.1161C>T	c.(1159-1161)ggC>ggT	p.G387G	NLRP4_ENST00000346986.5_Silent_p.G387G|NLRP4_ENST00000587891.1_Silent_p.G312G	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	387	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTGCCGAGGGCCCGACTCCGC	0.562																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(1159-1161)ggC>ggT		NLR family, pyrin domain containing 4							59.0	56.0	57.0					19																	56369920		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56369920C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1161C>T	19.37:g.56369920C>T						NLRP4_ENST00000346986.5_Silent_p.G387G|NLRP4_ENST00000587891.1_Silent_p.G312G	p.G387G	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1583	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	387			NACHT.		Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.1161C>T	CCDS12936.1																																																																																				0.562	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		12	18	0	0	0	0.093190	0	12	18				
ACTL8	81569	broad.mit.edu	37	1	18149709	18149709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr1:18149709G>A	ENST00000375406.1	+	2	422	c.206G>A	c.(205-207)cGg>cAg	p.R69Q		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	69					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R69Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCCATCGAGCGGGGCCGCATC	0.597																																						ENST00000375406.1																			1	Substitution - Missense(1)	p.R69Q(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(205-207)cGg>cAg		actin-like 8							113.0	107.0	109.0					1																	18149709		2203	4300	6503	SO:0001583	missense	81569					cytoplasm|cytoskeleton		g.chr1:18149709G>A	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.206G>A	1.37:g.18149709G>A	ENSP00000364555:p.Arg69Gln						p.R69Q	NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	2	422	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	69					Q13104|Q96M75	Missense_Mutation	SNP	ENST00000375406.1	37	c.206G>A	CCDS183.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237181	0.58886	.	.	ENSG00000117148	ENST00000375406	D	0.97352	-4.35	4.98	3.05	0.35203	.	0.000000	0.39909	N	0.001223	D	0.97259	0.9104	M	0.64676	1.99	0.28777	N	0.900051	D	0.89917	1.0	D	0.72625	0.978	D	0.92845	0.6292	10	0.87932	D	0	-27.9891	7.1259	0.25471	0.2782:0.0:0.7218:0.0	.	69	Q9H568	ACTL8_HUMAN	Q	69	ENSP00000364555:R69Q	ENSP00000364555:R69Q	R	+	2	0	ACTL8	18022296	0.999000	0.42202	0.735000	0.30896	0.158000	0.22134	3.654000	0.54453	1.312000	0.45043	0.655000	0.94253	CGG		0.597	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		27	22	0	0	0	0.125774	0	27	22				
TRMT10A	93587	broad.mit.edu	37	4	100479223	100479223	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr4:100479223G>A	ENST00000273962.3	-	3	643	c.331C>T	c.(331-333)Cac>Tac	p.H111Y	TRMT10A_ENST00000394877.3_Missense_Mutation_p.H111Y|TRMT10A_ENST00000394876.2_Missense_Mutation_p.H111Y	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	111	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										ACCATCAAGTGATCAAAACTA	0.338																																						ENST00000273962.3																			0											c.(331-333)Cac>Tac		tRNA methyltransferase 10 homolog A (S. cerevisiae)							164.0	135.0	145.0					4																	100479223		2203	4300	6503	SO:0001583	missense	93587							g.chr4:100479223G>A	BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.331C>T	4.37:g.100479223G>A	ENSP00000273962:p.His111Tyr					TRMT10A_ENST00000394876.2_Missense_Mutation_p.H111Y|TRMT10A_ENST00000394877.3_Missense_Mutation_p.H111Y	p.H111Y	NM_152292.4	NP_689505.1					3	643	-								B2R8X7|Q9Y2T9	Missense_Mutation	SNP	ENST00000273962.3	37	c.331C>T	CCDS3650.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899668	0.33535	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876;ENST00000455368;ENST00000514547	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.78	-2.35	0.06684	.	0.514981	0.25422	N	0.030782	T	0.15912	0.0383	L	0.52011	1.625	0.09310	N	1	B	0.22604	0.072	B	0.23574	0.047	T	0.21143	-1.0254	10	0.72032	D	0.01	0.1159	6.7116	0.23280	0.0:0.3162:0.2153:0.4685	.	111	Q8TBZ6	RG9D2_HUMAN	Y	111	ENSP00000378343:H111Y;ENSP00000273962:H111Y;ENSP00000378342:H111Y;ENSP00000397551:H111Y;ENSP00000423628:H111Y	ENSP00000273962:H111Y	H	-	1	0	RG9MTD2	100698246	0.998000	0.40836	0.581000	0.28614	0.931000	0.56810	0.430000	0.21428	-0.123000	0.11745	-0.197000	0.12766	CAC		0.338	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1	NM_152292		10	19	0	0	0	0.069234	0	10	19				
CASC1	55259	broad.mit.edu	37	12	25272177	25272177	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr12:25272177T>C	ENST00000320267.9	-	11	1361	c.1280A>G	c.(1279-1281)gAg>gGg	p.E427G	CASC1_ENST00000545133.1_Missense_Mutation_p.E368G|CASC1_ENST00000354189.5_Missense_Mutation_p.E491G|CASC1_ENST00000395990.2_Missense_Mutation_p.E387G|CASC1_ENST00000537577.1_Missense_Mutation_p.E315G|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395987.3_Missense_Mutation_p.E433G	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	427										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			ATTTTCTGTCTCAAACTCTTC	0.383																																						ENST00000354189.5																			0				breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1471-1473)gAg>gGg		cancer susceptibility candidate 1							127.0	116.0	120.0					12																	25272177		2203	4300	6503	SO:0001583	missense	55259							g.chr12:25272177T>C	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.1280A>G	12.37:g.25272177T>C	ENSP00000313141:p.Glu427Gly					CASC1_ENST00000395987.3_Missense_Mutation_p.E433G|CASC1_ENST00000395990.2_Missense_Mutation_p.E387G|CASC1_ENST00000320267.9_Missense_Mutation_p.E427G|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000545133.1_Missense_Mutation_p.E368G|CASC1_ENST00000537577.1_Missense_Mutation_p.E315G	p.E491G	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)		12	1507	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		427					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.1472A>G	CCDS41762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.91|12.91	2.079515|2.079515	0.36662|0.36662	.|.	.|.	ENSG00000118307|ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000395992;ENST00000545133;ENST00000389246|ENST00000556006	T;T;T;T;T|.	0.54279|.	0.58;1.19;1.19;0.6;0.6|.	5.34|5.34	5.34|5.34	0.76211|0.76211	Casc1 domain (1);|.	0.389340|.	0.28940|.	N|.	0.013657|.	T|.	0.64516|.	0.2605|.	M|M	0.75264|0.75264	2.295|2.295	0.30964|0.30964	N|N	0.723298|0.723298	D;D;P;D;D|.	0.71674|.	0.977;0.992;0.921;0.998;0.997|.	P;P;P;D;D|.	0.66847|.	0.787;0.856;0.601;0.947;0.913|.	T|.	0.68872|.	-0.5294|.	10|.	0.33940|.	T|.	0.23|.	-9.349|-9.349	12.7124|12.7124	0.57098|0.57098	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	315;368;491;427;433|.	F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9|.	.;.;.;CASC1_HUMAN;.|.	G|W	491;433;427;387;315;433;368;237|263	ENSP00000346126:E491G;ENSP00000379310:E433G;ENSP00000313141:E427G;ENSP00000379313:E387G;ENSP00000437373:E368G|.	ENSP00000313141:E427G|.	E|X	-|-	2|3	0|0	CASC1|CASC1	25163444|25163444	0.089000|0.089000	0.21612|0.21612	0.306000|0.306000	0.25113|0.25113	0.034000|0.034000	0.12701|0.12701	1.498000|1.498000	0.35660|0.35660	2.021000|2.021000	0.59480|0.59480	0.528000|0.528000	0.53228|0.53228	GAG|TGA		0.383	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		3	98	0	0	0	0.115264	0	3	98				
TNR	7143	broad.mit.edu	37	1	175336428	175336428	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr1:175336428C>T	ENST00000367674.2	-	10	2677	c.1969G>A	c.(1969-1971)Gta>Ata	p.V657I	TNR_ENST00000263525.2_Missense_Mutation_p.V657I			Q92752	TENR_HUMAN	tenascin R	657	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTGCCAGGTACCAGATCTATC	0.478																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(1969-1971)Gta>Ata		tenascin R							126.0	108.0	114.0					1																	175336428		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175336428C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1969G>A	1.37:g.175336428C>T	ENSP00000356646:p.Val657Ile					TNR_ENST00000263525.2_Missense_Mutation_p.V657I	p.V657I	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			10	2677	-	Renal(580;0.146)		657			Fibronectin type-III 4.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1969G>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.763055	0.31228	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.57273	0.41;0.41	5.55	3.7	0.42460	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.289722	0.33515	N	0.004838	T	0.37183	0.0994	L	0.28556	0.865	0.34099	D	0.661648	B	0.02656	0.0	B	0.01281	0.0	T	0.39643	-0.9604	10	0.36615	T	0.2	.	8.28	0.31896	0.0:0.6975:0.0:0.3025	.	657	Q92752	TENR_HUMAN	I	657	ENSP00000356646:V657I;ENSP00000263525:V657I	ENSP00000263525:V657I	V	-	1	0	TNR	173603051	0.997000	0.39634	0.995000	0.50966	0.743000	0.42351	0.847000	0.27696	0.726000	0.32339	0.643000	0.83706	GTA		0.478	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		5	25	0	0	0	0.021553	0	5	25				
THBS1	7057	broad.mit.edu	37	15	39882077	39882077	+	Silent	SNP	G	G	A			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr15:39882077G>A	ENST00000260356.5	+	13	2163	c.1998G>A	c.(1996-1998)ctG>ctA	p.L666L		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	666	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		GCAACTACCTGGGCCACTATA	0.602																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(1996-1998)ctG>ctA		thrombospondin 1	Becaplermin(DB00102)						114.0	96.0	102.0					15																	39882077		2200	4297	6497	SO:0001819	synonymous_variant	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39882077G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1998G>A	15.37:g.39882077G>A							p.L666L	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	13	2163	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	666			EGF-like 3.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	c.1998G>A	CCDS32194.1																																																																																				0.602	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		7	24	0	0	0	0.029380	0	7	24				
FOXK1	221937	broad.mit.edu	37	7	4796757	4796757	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr7:4796757C>G	ENST00000328914.4	+	5	1183	c.1183C>G	c.(1183-1185)Cgg>Ggg	p.R395G	FOXK1_ENST00000446823.1_Missense_Mutation_p.R232G	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		ACAGGCATTCCGGAAACGGAG	0.577																																						ENST00000328914.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1183-1185)Cgg>Ggg		forkhead box K1							90.0	98.0	95.0					7																	4796757		2203	4300	6503	SO:0001583	missense	221937				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr7:4796757C>G	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1183C>G	7.37:g.4796757C>G	ENSP00000328720:p.Arg395Gly					FOXK1_ENST00000446823.1_Missense_Mutation_p.R232G	p.R395G	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)	5	1183	+		Ovarian(82;0.0175)	395						Missense_Mutation	SNP	ENST00000328914.4	37	c.1183C>G	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693324	0.68386	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.95656	-3.77;-3.77	5.8	5.8	0.92144	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (2);	0.000000	0.85682	D	0.000000	D	0.97015	0.9025	M	0.73319	2.225	0.52501	D	0.999951	D;D	0.76494	0.99;0.999	D;D	0.73380	0.951;0.98	D	0.96611	0.9452	10	0.54805	T	0.06	.	12.6263	0.56632	0.2596:0.7404:0.0:0.0	.	395;232	P85037;P85037-2	FOXK1_HUMAN;.	G	232;159;395;278	ENSP00000394442:R232G;ENSP00000328720:R395G	ENSP00000328720:R395G	R	+	1	2	FOXK1	4763283	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.228000	0.51270	2.735000	0.93741	0.655000	0.94253	CGG		0.577	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			35	76	0	0	0	0.092188	0	35	76				
SAMD11	148398	broad.mit.edu	37	1	874816	874817	+	Frame_Shift_Ins	INS	-	-	T	rs201898716|rs568340123|rs200996316	byFrequency	TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr1:874816_874817insT	ENST00000342066.3	+	7	765_766	c.682_683insT	c.(682-684)cccfs	p.P228fs		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	228					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CTGGCATGATCCCCCTCATCAC	0.644																																						ENST00000342066.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(682-684)cccfs		sterile alpha motif domain containing 11				128,4138		0,128,2005						0.0	0.0			30	428,7824		16,396,3714	no	frameshift	SAMD11	NM_152486.2		16,524,5719	A1A1,A1R,RR		5.1866,3.0005,4.4416				556,11962				SO:0001589	frameshift_variant	148398					nucleus		g.chr1:874816_874817insT	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"""Sterile alpha motif (SAM) domain containing"""	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	Exception_encountered	1.37:g.874816_874817insT	ENSP00000342313:p.Pro228fs						p.P228fs	NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	7	765_766	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	228					A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Frame_Shift_Ins	INS	ENST00000342066.3	37	c.682_683insT	CCDS2.2																																																																																				0.644	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	NM_152486		5	1						5	1	---	---	---	---
RAB3B	5865	broad.mit.edu	37	1	52442779	52442779	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr1:52442779A>G	ENST00000371655.3	-	2	223	c.11T>C	c.(10-12)gTg>gCg	p.V4A		NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	4					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle size (GO:0097494)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						ACCATCTGTCACTGAAGCCAT	0.473																																						ENST00000371655.3																			0				large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						c.(10-12)gTg>gCg		RAB3B, member RAS oncogene family							100.0	90.0	93.0					1																	52442779		2203	4300	6503	SO:0001583	missense	5865				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr1:52442779A>G	BC005035	CCDS560.1	1p32-p31	2008-02-05			ENSG00000169213	ENSG00000169213		"""RAB, member RAS oncogene"""	9778	protein-coding gene	gene with protein product		179510					Standard	NM_002867		Approved		uc001cth.3	P20337	OTTHUMG00000008627	ENST00000371655.3:c.11T>C	1.37:g.52442779A>G	ENSP00000360718:p.Val4Ala						p.V4A	NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN			2	223	-			4					Q5VUL2|Q9BSI1	Missense_Mutation	SNP	ENST00000371655.3	37	c.11T>C	CCDS560.1	.	.	.	.	.	.	.	.	.	.	A	6.363	0.435128	0.12045	.	.	ENSG00000169213	ENST00000371655;ENST00000537650	T	0.64991	-0.13	5.53	5.53	0.82687	.	0.202621	0.41712	D	0.000821	T	0.35278	0.0926	N	0.08118	0	0.44508	D	0.997452	B	0.02656	0.0	B	0.06405	0.002	T	0.31392	-0.9945	10	0.02654	T	1	.	10.1855	0.42995	0.9266:0.0:0.0734:0.0	.	4	P20337	RAB3B_HUMAN	A	4	ENSP00000360718:V4A	ENSP00000360718:V4A	V	-	2	0	RAB3B	52215367	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.072000	0.64389	2.324000	0.78689	0.533000	0.62120	GTG		0.473	RAB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023816.1	NM_002867		12	13	0	0	0	0.093190	0	12	13				
TMEM132B	114795	broad.mit.edu	37	12	125834002	125834003	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr12:125834002_125834003delAG	ENST00000299308.3	+	2	65_66	c.57_58delAG	c.(55-60)acagagfs	p.E20fs	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	20						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTGCAGTGACAGAGAGTCGAGG	0.485																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(55-60)acagfs		transmembrane protein 132B																																				SO:0001589	frameshift_variant	114795					integral to membrane		g.chr12:125834002_125834003delAG	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.57_58delAG	12.37:g.125834006_125834007delAG	ENSP00000299308:p.Glu20fs					TMEM132B_ENST00000418253.2_3'UTR	p.TE19fs	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	2	65_66	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		19					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Frame_Shift_Del	DEL	ENST00000299308.3	37	c.57_58delAG	CCDS41859.1																																																																																				0.485	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		33	73						33	73	---	---	---	---
