#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
LILRA3	11026	broad.mit.edu	37	19	54802705	54802705	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr19:54802705A>T	ENST00000251390.3	-	5	827	c.736T>A	c.(736-738)Tgt>Agt	p.C246S	LILRA3_ENST00000391744.3_Missense_Mutation_p.C182S|LILRA3_ENST00000391745.1_Missense_Mutation_p.C263S	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	246	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCAGAGCCACACTGGAAGGTC	0.602																																						ENST00000391745.1																			0				NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(787-789)Tgt>Agt		leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3							66.0	60.0	62.0					19																	54802705		2193	4153	6346	SO:0001583	missense	0							g.chr19:54802705A>T	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.736T>A	19.37:g.54802705A>T	ENSP00000251390:p.Cys246Ser		Somatic				LILRA3_ENST00000251390.3_Missense_Mutation_p.C246S|LILRA3_ENST00000391744.3_Missense_Mutation_p.C182S	p.C263S			WXS	Illumina GAIIx	Phase_I				GBM - Glioblastoma multiforme(193;0.105)	9	1103	-	Ovarian(34;0.19)							J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.787T>A	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	A	12.59	1.984695	0.35036	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	D;D;D	0.94537	-3.45;-3.45;-3.45	1.79	0.7	0.18099	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.324006	0.22997	N	0.053132	D	0.98046	0.9356	H	0.99770	4.765	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.91919	0.5546	10	0.72032	D	0.01	.	4.6785	0.12724	0.6648:0.3352:0.0:0.0	.	246;246	E7EU74;Q8N6C8	.;LIRA3_HUMAN	S	246;182;263	ENSP00000251390:C246S;ENSP00000375624:C182S;ENSP00000375625:C263S	ENSP00000251390:C246S	C	-	1	0	LILRA3	59494517	0.000000	0.05858	0.019000	0.16419	0.027000	0.11550	0.149000	0.16243	0.159000	0.19401	0.473000	0.43528	TGT		0.602	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			19	35	0	0	0	1	0	19	35				
RASL12	51285	broad.mit.edu	37	15	65347374	65347374	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr15:65347374T>G	ENST00000220062.4	-	5	940	c.664A>C	c.(664-666)Aac>Cac	p.N222H	RASL12_ENST00000434605.2_Missense_Mutation_p.N211H|RASL12_ENST00000421977.3_Missense_Mutation_p.N203H	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	222					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						GAGAGCGTGTTGAAGGTGCAG	0.682																																						ENST00000220062.4																			0				lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						c.(664-666)Aac>Cac		RAS-like, family 12							39.0	36.0	37.0					15																	65347374		2202	4299	6501	SO:0001583	missense	51285				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr15:65347374T>G	AF233588	CCDS10200.1	15q11.2-q22.33	2014-05-09			ENSG00000103710	ENSG00000103710			30289	protein-coding gene	gene with protein product	"""Ras family member Ris"""					12107412	Standard	NM_016563		Approved	RIS	uc002aoi.1	Q9NYN1	OTTHUMG00000133115	ENST00000220062.4:c.664A>C	15.37:g.65347374T>G	ENSP00000220062:p.Asn222His		Somatic				RASL12_ENST00000434605.2_Missense_Mutation_p.N211H|RASL12_ENST00000421977.3_Missense_Mutation_p.N203H	p.N222H	NM_016563.2	NP_057647.1	WXS	Illumina GAIIx	Phase_I	Q9NYN1	RASLC_HUMAN			5	940	-			222					B2RC29|B4DJW2|B4DU82	Missense_Mutation	SNP	ENST00000220062.4	37	c.664A>C	CCDS10200.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.845022	0.32606	.	.	ENSG00000103710	ENST00000220062;ENST00000421977;ENST00000434605	T;T;T	0.80824	-0.39;-1.42;-0.28	4.94	3.8	0.43715	.	0.163249	0.43747	D	0.000524	T	0.74076	0.3669	N	0.24115	0.695	0.31444	N	0.671621	B;D;B	0.55385	0.013;0.971;0.006	B;P;B	0.50440	0.005;0.641;0.008	T	0.76647	-0.2882	10	0.87932	D	0	.	9.3012	0.37847	0.0:0.0832:0.0:0.9168	.	211;203;222	B4DU82;B4DJW2;Q9NYN1	.;.;RASLC_HUMAN	H	222;203;211	ENSP00000220062:N222H;ENSP00000390028:N203H;ENSP00000412787:N211H	ENSP00000220062:N222H	N	-	1	0	RASL12	63134427	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	2.204000	0.42761	0.834000	0.34852	0.413000	0.27773	AAC		0.682	RASL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256782.2	NM_016563		14	19	0	0	0	1	0	14	19				
DNAJC8	22826	broad.mit.edu	37	1	28555506	28555506	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr1:28555506A>G	ENST00000263697.4	-	2	133	c.107T>C	c.(106-108)gTt>gCt	p.V36A	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	36					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)				kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		CGAAGTTAGAACCGAGTCTCT	0.353																																						ENST00000263697.4																			0				kidney(1)|large_intestine(3)|lung(2)	6						c.(106-108)gTt>gCt		DnaJ (Hsp40) homolog, subfamily C, member 8							106.0	93.0	97.0					1																	28555506		1821	4088	5909	SO:0001583	missense	22826				nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding	g.chr1:28555506A>G	AF083190	CCDS41292.1	1p35	2011-09-02			ENSG00000126698	ENSG00000126698		"""Heat shock proteins / DNAJ (HSP40)"""	15470	protein-coding gene	gene with protein product						11147971	Standard	NM_014280		Approved	SPF31	uc001bpn.3	O75937	OTTHUMG00000003538	ENST00000263697.4:c.107T>C	1.37:g.28555506A>G	ENSP00000263697:p.Val36Ala		Somatic				DNAJC8_ENST00000489277.1_5'UTR	p.V36A	NM_014280.2	NP_055095.2	WXS	Illumina GAIIx	Phase_I	O75937	DNJC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)	2	133	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	36					B4DUU4|D3DPM0|Q6IBA4|Q8N4Z5|Q9P051|Q9P067	Missense_Mutation	SNP	ENST00000263697.4	37	c.107T>C	CCDS41292.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.628755	0.67015	.	.	ENSG00000126698	ENST00000263697	T	0.20463	2.07	5.16	5.16	0.70880	Heat shock protein DnaJ, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.25082	0.0609	L	0.51422	1.61	0.80722	D	1	P	0.47545	0.897	P	0.45794	0.493	T	0.01762	-1.1279	10	0.29301	T	0.29	-28.1862	13.9683	0.64223	1.0:0.0:0.0:0.0	.	36	O75937	DNJC8_HUMAN	A	36	ENSP00000263697:V36A	ENSP00000263697:V36A	V	-	2	0	DNAJC8	28428093	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.670000	0.83925	1.948000	0.56530	0.459000	0.35465	GTT		0.353	DNAJC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009860.1	NM_014280		43	52	0	0	0	1	0	43	52				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000342960.5_Silent_p.L384L|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			Somatic				NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Silent_p.L113L	p.L384L	NM_001039703.4	NP_001034792.4	WXS	Illumina GAIIx	Phase_I	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		4	50	0	0	0	1	0	4	50				
APC	324	broad.mit.edu	37	5	112170678	112170678	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr5:112170678T>G	ENST00000457016.1	+	15	2154	c.1774T>G	c.(1774-1776)Tta>Gta	p.L592V	APC_ENST00000257430.4_Missense_Mutation_p.L592V|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.L592V			P25054	APC_HUMAN	adenomatous polyposis coli	592	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATTGAGTGCCTTATGGAATTT	0.388		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		1	Unknown(1)	p.?(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(1774-1776)Tta>Gta		adenomatous polyposis coli							179.0	149.0	159.0					5																	112170678		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112170678T>G	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1774T>G	5.37:g.112170678T>G	ENSP00000413133:p.Leu592Val	TSP Lung(16;0.13)	Somatic				APC_ENST00000508376.2_Missense_Mutation_p.L592V|APC_ENST00000257430.4_Missense_Mutation_p.L592V|CTC-554D6.1_ENST00000520401.1_Intron	p.L592V			WXS	Illumina GAIIx	Phase_I	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	15	2154	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	592			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.1774T>G	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.477506	0.84640	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.93	4.77	0.60923	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.87172	0.6111	M	0.86651	2.83	0.80722	D	1	P;P	0.52463	0.953;0.953	P;P	0.59546	0.816;0.859	D	0.88373	0.2996	10	0.87932	D	0	-12.9742	11.7181	0.51666	0.0:0.0686:0.0:0.9314	.	594;592	Q4LE70;P25054	.;APC_HUMAN	V	592;574;592;592;592	ENSP00000413133:L592V;ENSP00000423224:L574V;ENSP00000257430:L592V;ENSP00000427089:L592V;ENSP00000423828:L592V	ENSP00000257430:L592V	L	+	1	2	APC	112198577	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.392000	0.59659	1.077000	0.40990	0.533000	0.62120	TTA		0.388	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		38	41	0	0	0	1	0	38	41				
ARPC2	10109	broad.mit.edu	37	2	219093472	219093472	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr2:219093472G>A	ENST00000295685.10	+	3	382	c.121G>A	c.(121-123)Gtc>Atc	p.V41I	ARPC2_ENST00000315717.5_Missense_Mutation_p.V41I	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	41					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TTTCGATGGGGTCCTCTATCA	0.413																																						ENST00000295685.10																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6						c.(121-123)Gtc>Atc		actin related protein 2/3 complex, subunit 2, 34kDa							105.0	104.0	105.0					2																	219093472		2203	4300	6503	SO:0001583	missense	10109				cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	g.chr2:219093472G>A	AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.121G>A	2.37:g.219093472G>A	ENSP00000295685:p.Val41Ile		Somatic				ARPC2_ENST00000315717.5_Missense_Mutation_p.V41I	p.V41I	NM_005731.2	NP_005722.1	WXS	Illumina GAIIx	Phase_I	O15144	ARPC2_HUMAN		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)	3	382	+		Renal(207;0.0474)	41					Q92801|Q9P1D4	Missense_Mutation	SNP	ENST00000295685.10	37	c.121G>A	CCDS2410.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138944	0.77775	.	.	ENSG00000163466	ENST00000315717;ENST00000420104;ENST00000295685	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.71710	0.3372	M	0.84082	2.675	0.80722	D	1	B	0.22211	0.066	B	0.18871	0.023	T	0.70960	-0.4730	9	0.54805	T	0.06	.	19.2755	0.94030	0.0:0.0:1.0:0.0	.	41	O15144	ARPC2_HUMAN	I	41	.	ENSP00000295685:V41I	V	+	1	0	ARPC2	218801717	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.657000	0.98554	2.865000	0.98341	0.655000	0.94253	GTC		0.413	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	NM_005731		20	22	0	0	0	1	0	20	22				
EIF1AX	1964	broad.mit.edu	37	X	20156735	20156735	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chrX:20156735C>T	ENST00000379607.5	-	2	225	c.22G>A	c.(22-24)Gga>Aga	p.G8R	snoU2_19_ENST00000364722.1_RNA|snoU2-30_ENST00000365012.1_RNA|EIF1AX-AS1_ENST00000424026.1_RNA|EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	8					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TTTTTACCTCCTTTACCTGAT	0.308																																						ENST00000379607.5																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(22-24)Gga>Aga		eukaryotic translation initiation factor 1A, X-linked							135.0	126.0	129.0					X																	20156735		2203	4300	6503	SO:0001583	missense	1964					cytosol	translation initiation factor activity	g.chrX:20156735C>T	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.22G>A	X.37:g.20156735C>T	ENSP00000368927:p.Gly8Arg		Somatic				EIF1AX_ENST00000379593.1_Intron	p.G8R	NM_001412.3	NP_001403.1	WXS	Illumina GAIIx	Phase_I	P47813	IF1AX_HUMAN			2	225	-			8					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.22G>A	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722807	0.68959	.	.	ENSG00000173674	ENST00000379607	T	0.47528	0.84	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.79143	0.4396	H	0.96365	3.81	0.80722	D	1	D	0.67145	0.996	D	0.79784	0.993	D	0.86825	0.2007	9	0.87932	D	0	-2.5166	17.661	0.88193	0.0:1.0:0.0:0.0	.	8	P47813	IF1AX_HUMAN	R	8	ENSP00000368927:G8R	ENSP00000368927:G8R	G	-	1	0	EIF1AX	20066656	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGA		0.308	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1			41	58	0	0	0	1	0	41	58				
RELN	5649	broad.mit.edu	37	7	103205756	103205756	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr7:103205756G>C	ENST00000428762.1	-	34	5338	c.5179C>G	c.(5179-5181)Cgg>Ggg	p.R1727G	RELN_ENST00000343529.5_Missense_Mutation_p.R1727G|RELN_ENST00000424685.2_Missense_Mutation_p.R1727G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1727					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.R1727W(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACAGTGATCCGCTTCCAATTC	0.438																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			1	Substitution - Missense(1)	p.R1727W(1)	large_intestine(1)	NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(5179-5181)Cgg>Ggg		reelin							123.0	111.0	115.0					7																	103205756		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103205756G>C		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5179C>G	7.37:g.103205756G>C	ENSP00000392423:p.Arg1727Gly		Somatic				RELN_ENST00000428762.1_Missense_Mutation_p.R1727G|RELN_ENST00000343529.5_Missense_Mutation_p.R1727G	p.R1727G			WXS	Illumina GAIIx	Phase_I	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	34	5338	-			1727					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.5179C>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090837	0.76756	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.50813	1.34;0.73;1.34	6.02	4.09	0.47781	Neuraminidase (1);	0.053048	0.64402	D	0.000001	T	0.70272	0.3205	M	0.84585	2.705	0.48341	D	0.999639	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.979	T	0.76160	-0.3061	10	0.87932	D	0	.	12.891	0.58071	0.0:0.0:0.4962:0.5038	.	1727;1727	P78509-2;P78509	.;RELN_HUMAN	G	1727	ENSP00000392423:R1727G;ENSP00000345694:R1727G;ENSP00000388446:R1727G	ENSP00000345694:R1727G	R	-	1	2	RELN	102992992	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.045000	0.49838	1.518000	0.48934	0.655000	0.94253	CGG		0.438	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		4	82	0	0	0	1	0	4	82				
PTGER2	5732	broad.mit.edu	37	14	52781318	52781318	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr14:52781318T>C	ENST00000245457.5	+	1	206	c.52T>C	c.(52-54)Tgg>Cgg	p.W18R	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	18					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GACGCGACAGTGGCTTCCCCC	0.652																																						ENST00000245457.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(52-54)Tgg>Cgg		prostaglandin E receptor 2 (subtype EP2), 53kDa	Alprostadil(DB00770)|Iloprost(DB01088)						18.0	22.0	21.0					14																	52781318		2196	4292	6488	SO:0001583	missense	5732					integral to plasma membrane	prostaglandin E receptor activity	g.chr14:52781318T>C		CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"""GPCR / Class A : Prostanoid receptors"""	9594	protein-coding gene	gene with protein product		176804	"""prostaglandin E receptor 2 (subtype EP2), 53kD"""			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.52T>C	14.37:g.52781318T>C	ENSP00000245457:p.Trp18Arg		Somatic				PTGER2_ENST00000557436.1_Intron	p.W18R	NM_000956.3	NP_000947.2	WXS	Illumina GAIIx	Phase_I	P43116	PE2R2_HUMAN			1	206	+	Breast(41;0.0639)|all_epithelial(31;0.0729)		18					D3DSC0|Q52LG8	Missense_Mutation	SNP	ENST00000245457.5	37	c.52T>C	CCDS9708.1	.	.	.	.	.	.	.	.	.	.	T	12.25	1.881161	0.33255	.	.	ENSG00000125384	ENST00000245457	D	0.83837	-1.77	5.04	2.6	0.31112	.	0.763029	0.13124	N	0.412005	T	0.76793	0.4037	M	0.73598	2.24	0.28614	N	0.908536	B	0.31730	0.337	B	0.23574	0.047	T	0.64330	-0.6433	10	0.26408	T	0.33	-0.9863	4.4199	0.11476	0.1725:0.0952:0.0:0.7323	.	18	P43116	PE2R2_HUMAN	R	18	ENSP00000245457:W18R	ENSP00000245457:W18R	W	+	1	0	PTGER2	51851068	0.003000	0.15002	0.795000	0.32087	0.935000	0.57460	0.999000	0.29757	0.322000	0.23283	0.397000	0.26171	TGG		0.652	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1			13	24	0	0	0	1	0	13	24				
MRPL24	79590	broad.mit.edu	37	1	156708205	156708205	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr1:156708205G>A	ENST00000361531.2	-	3	345	c.209C>T	c.(208-210)gCc>gTc	p.A70V	MRPL24_ENST00000478899.1_5'Flank|MRPL24_ENST00000368211.4_Missense_Mutation_p.A70V			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	70	KOW.				translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGCTTCCCGGCATCCTTGCC	0.567																																						ENST00000361531.2																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(208-210)gCc>gTc		mitochondrial ribosomal protein L24							211.0	194.0	200.0					1																	156708205		2203	4300	6503	SO:0001583	missense	79590				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr1:156708205G>A	AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"""Mitochondrial ribosomal proteins / large subunits"""	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.209C>T	1.37:g.156708205G>A	ENSP00000354525:p.Ala70Val		Somatic				MRPL24_ENST00000368211.4_Missense_Mutation_p.A70V	p.A70V			WXS	Illumina GAIIx	Phase_I	Q96A35	RM24_HUMAN			3	345	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		70			KOW.		D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Missense_Mutation	SNP	ENST00000361531.2	37	c.209C>T	CCDS1155.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458233	0.63401	.	.	ENSG00000143314	ENST00000361531;ENST00000368211;ENST00000434558;ENST00000412846	.	.	.	5.57	4.6	0.57074	KOW (2);Translation protein SH3-like (1);Ribosomal protein L24/L26, conserved site (1);Ribosomal protein L24, SH3-like (1);	0.109682	0.64402	D	0.000007	T	0.40322	0.1112	M	0.67397	2.05	0.41365	D	0.987454	P	0.39352	0.669	B	0.31016	0.123	T	0.55866	-0.8073	9	0.72032	D	0.01	-17.5247	12.9383	0.58327	0.0:0.0:0.8372:0.1628	.	70	Q96A35	RM24_HUMAN	V	70	.	ENSP00000354525:A70V	A	-	2	0	MRPL24	154974829	0.996000	0.38824	0.984000	0.44739	0.912000	0.54170	2.423000	0.44705	2.633000	0.89246	0.650000	0.86243	GCC		0.567	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1	NM_145729		4	157	0	0	0	1	0	4	157				
PDXDC2P	283970	broad.mit.edu	37	16	70065826	70065826	+	RNA	SNP	T	T	C	rs3169319		TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr16:70065826T>C	ENST00000531894.1	-	0	796				MIR1972-2_ENST00000458813.1_RNA	NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.M209V(4)									GATCCAAACATAGTGTTACAG	0.453																																						ENST00000531894.1																			4	Substitution - Missense(4)	p.M209V(4)	urinary_tract(1)|prostate(1)|kidney(1)|endometrium(1)																																																0							g.chr16:70065826T>C			16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70065826T>C			Somatic						NR_003610.1		WXS	Illumina GAIIx	Phase_I					0	796	-								A8K9Z5	RNA	SNP	ENST00000531894.1	37																																																																																						0.453	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000395258.1			4	102	0	0	0	1	0	4	102				
KRCC1	51315	broad.mit.edu	37	2	88327530	88327530	+	Missense_Mutation	SNP	C	C	T	rs61734751	byFrequency	TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr2:88327530C>T	ENST00000347055.3	-	4	946	c.553G>A	c.(553-555)Gag>Aag	p.E185K		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	185	Lys-rich.									cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TCAATTTCCTCGCAGCTTTTT	0.408													C|||	7	0.00139776	0.0053	0.0	5008	,	,		17888	0.0		0.0	False		,,,				2504	0.0					ENST00000347055.3																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(553-555)Gag>Aag		lysine-rich coiled-coil 1		C	LYS/GLU	24,4382	31.7+/-61.6	0,24,2179	117.0	125.0	122.0		553	5.1	0.8	2	dbSNP_129	122	0,8600		0,0,4300	yes	missense	KRCC1	NM_016618.1	56	0,24,6479	TT,TC,CC		0.0,0.5447,0.1845	possibly-damaging	185/260	88327530	24,12982	2203	4300	6503	SO:0001583	missense	51315							g.chr2:88327530C>T	AF208845	CCDS2000.1	2p11.2	2008-02-05			ENSG00000172086	ENSG00000172086			28039	protein-coding gene	gene with protein product						12477932	Standard	XM_005264360		Approved	FLJ22333	uc002sso.1	Q9NPI7	OTTHUMG00000130315	ENST00000347055.3:c.553G>A	2.37:g.88327530C>T	ENSP00000340083:p.Glu185Lys		Somatic					p.E185K	NM_016618.1	NP_057702.1	WXS	Illumina GAIIx	Phase_I	Q9NPI7	KRCC1_HUMAN			4	946	-			185			Lys-rich.		Q3B7J7	Missense_Mutation	SNP	ENST00000347055.3	37	c.553G>A	CCDS2000.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.21	2.467147	0.43839	0.005447	0.0	ENSG00000172086	ENST00000347055	T	0.35973	1.28	5.98	5.11	0.69529	.	0.339027	0.28203	N	0.016202	T	0.50120	0.1597	M	0.71581	2.175	0.39798	D	0.97252	D	0.89917	1.0	D	0.77004	0.989	T	0.60601	-0.7231	10	0.56958	D	0.05	-21.1108	13.3095	0.60371	0.0:0.924:0.0:0.076	.	185	Q9NPI7	KRCC1_HUMAN	K	185	ENSP00000340083:E185K	ENSP00000340083:E185K	E	-	1	0	KRCC1	88108645	0.996000	0.38824	0.813000	0.32504	0.004000	0.04260	3.835000	0.55805	1.548000	0.49413	-0.133000	0.14855	GAG		0.408	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1	NM_016618		21	61	0	0	0	1	0	21	61				
EPC2	26122	broad.mit.edu	37	2	149528843	149528843	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr2:149528843A>G	ENST00000258484.6	+	10	1641	c.1607A>G	c.(1606-1608)cAg>cGg	p.Q536R		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	536					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		CTAAATTTACAGGACAGTGAT	0.383																																						ENST00000258484.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(1606-1608)cAg>cGg		enhancer of polycomb homolog 2 (Drosophila)							122.0	117.0	118.0					2																	149528843		1884	4100	5984	SO:0001583	missense	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149528843A>G	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1607A>G	2.37:g.149528843A>G	ENSP00000258484:p.Gln536Arg		Somatic					p.Q536R	NM_015630.3	NP_056445.3	WXS	Illumina GAIIx	Phase_I	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	10	1641	+			536					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	c.1607A>G	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.719089	0.48622	.	.	ENSG00000135999	ENST00000258484	T	0.18810	2.19	5.36	4.12	0.48240	.	0.078676	0.53938	D	0.000047	T	0.17280	0.0415	L	0.40543	1.245	0.80722	D	1	B	0.26975	0.165	B	0.23574	0.047	T	0.04440	-1.0951	10	0.33141	T	0.24	-2.1473	12.2419	0.54546	0.8581:0.1419:0.0:0.0	.	536	Q52LR7	EPC2_HUMAN	R	536	ENSP00000258484:Q536R	ENSP00000258484:Q536R	Q	+	2	0	EPC2	149245313	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.598000	0.54038	2.140000	0.66376	0.460000	0.39030	CAG		0.383	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		45	54	0	0	0	1	0	45	54				
OR8H2	390151	broad.mit.edu	37	11	55872537	55872537	+	Missense_Mutation	SNP	A	A	G	rs61746549	byFrequency	TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr11:55872537A>G	ENST00000313503.1	+	1	19	c.19A>G	c.(19-21)Aac>Gac	p.N7D		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N7D(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TAGAAGGAATAACACAAATGT	0.438										HNSCC(53;0.14)			N|||	4	0.000798722	0.0008	0.0014	5008	,	,		18426	0.0		0.0	False		,,,				2504	0.002					ENST00000313503.1																			1	Substitution - Missense(1)	p.N7D(1)	kidney(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(19-21)Aac>Gac		olfactory receptor, family 8, subfamily H, member 2							196.0	187.0	190.0					11																	55872537		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872537A>G	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.19A>G	11.37:g.55872537A>G	ENSP00000323982:p.Asn7Asp	HNSCC(53;0.14)	Somatic					p.N7D	NM_001005200.1	NP_001005200.1	WXS	Illumina GAIIx	Phase_I	Q8N162	OR8H2_HUMAN			1	19	+	Esophageal squamous(21;0.00693)		7					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.19A>G	CCDS31518.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	N	7.027	0.559788	0.13436	.	.	ENSG00000181767	ENST00000313503	T	0.00509	6.91	3.74	-2.34	0.06704	.	1.169330	0.06223	N	0.687064	T	0.00300	0.0009	N	0.17723	0.515	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41805	-0.9488	10	0.30854	T	0.27	.	0.2174	0.00164	0.3775:0.1477:0.1868:0.288	rs61746549	7	Q8N162	OR8H2_HUMAN	D	7	ENSP00000323982:N7D	ENSP00000323982:N7D	N	+	1	0	OR8H2	55629113	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-1.679000	0.01940	-0.566000	0.06054	-1.639000	0.00775	AAC		0.438	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		5	120	0	0	0	1	0	5	120				
DNAH10	196385	broad.mit.edu	37	12	124257432	124257432	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr12:124257432C>T	ENST00000409039.3	+	4	290	c.265C>T	c.(265-267)Cct>Tct	p.P89S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	89	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTCTGTACCCCTCTTCCCGA	0.458																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(265-267)Cct>Tct		dynein, axonemal, heavy chain 10							175.0	171.0	172.0					12																	124257432		1953	4159	6112	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124257432C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.265C>T	12.37:g.124257432C>T	ENSP00000386770:p.Pro89Ser		Somatic					p.P89S	NM_207437.3	NP_997320.2	WXS	Illumina GAIIx	Phase_I	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	4	290	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		89			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.265C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	2.619	-0.288952	0.05605	.	.	ENSG00000197653	ENST00000409039	T	0.20069	2.1	5.93	3.86	0.44501	.	.	.	.	.	T	0.09335	0.0230	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.38542	-0.9656	9	0.07482	T	0.82	.	4.2262	0.10582	0.0:0.5848:0.1886:0.2266	.	89	Q8IVF4	DYH10_HUMAN	S	89	ENSP00000386770:P89S	ENSP00000386770:P89S	P	+	1	0	DNAH10	122823385	0.000000	0.05858	0.061000	0.19648	0.003000	0.03518	0.485000	0.22324	1.487000	0.48415	0.655000	0.94253	CCT		0.458	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			4	158	0	0	0	1	0	4	158				
AMOTL2	51421	broad.mit.edu	37	3	134076564	134076564	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr3:134076564C>T	ENST00000422605.2	-	10	2489	c.2323G>A	c.(2323-2325)Gtg>Atg	p.V775M	AMOTL2_ENST00000513145.1_Missense_Mutation_p.V773M|RPL39P5_ENST00000273411.2_RNA|AMOTL2_ENST00000249883.5_Missense_Mutation_p.V776M|AMOTL2_ENST00000514516.1_Missense_Mutation_p.V833M			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	775					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						AGTATCTCCACCATGTCTGAC	0.507																																						ENST00000514516.1																			0				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(2497-2499)Gtg>Atg		angiomotin like 2							230.0	188.0	202.0					3																	134076564		2203	4300	6503	SO:0001583	missense	51421							g.chr3:134076564C>T	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.2323G>A	3.37:g.134076564C>T	ENSP00000409999:p.Val775Met		Somatic				AMOTL2_ENST00000513145.1_Missense_Mutation_p.V773M|AMOTL2_ENST00000249883.5_Missense_Mutation_p.V776M|AMOTL2_ENST00000422605.2_Missense_Mutation_p.V775M	p.V833M	NM_001278683.1	NP_001265612.1	WXS	Illumina GAIIx	Phase_I	Q9Y2J4	AMOL2_HUMAN			10	2675	-			775					A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	ENST00000422605.2	37	c.2497G>A		.	.	.	.	.	.	.	.	.	.	C	25.3	4.621815	0.87460	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.25085	1.88;1.87;1.82;1.87	5.28	5.28	0.74379	.	0.074219	0.52532	D	0.000068	T	0.48241	0.1489	L	0.50333	1.59	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.47355	-0.9124	10	0.87932	D	0	-29.9867	18.9412	0.92605	0.0:1.0:0.0:0.0	.	773;776;833	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	M	776;775;833;773	ENSP00000249883:V776M;ENSP00000409999:V775M;ENSP00000424765:V833M;ENSP00000425475:V773M	ENSP00000249883:V776M	V	-	1	0	AMOTL2	135559254	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.472000	0.66768	2.450000	0.82876	0.655000	0.94253	GTG		0.507	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		52	94	0	0	0	1	0	52	94				
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4				Dom	yes		9	9q21	2776	Mis	"""guanine nucleotide binding protein (G protein), q polypeptide"""			E			uveal melanoma		153	Substitution - Missense(153)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa		guanine nucleotide binding protein (G protein), q polypeptide							108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		Somatic				GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	WXS	Illumina GAIIx	Phase_I	P50148	GNAQ_HUMAN			5	848	-			209					O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	GNAQ	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		50	44	0	0	0	1	0	50	44				
LINC01317	104355287	broad.mit.edu	37	2	33952778	33952778	+	lincRNA	SNP	C	C	T			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr2:33952778C>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							GGGGAAGTTGCGCCAAAACAA	0.597																																						ENST00000366209.2																			0																																																			0							g.chr2:33952778C>T																													2.37:g.33952778C>T			Somatic				MYADML_ENST00000474610.1_RNA				WXS	Illumina GAIIx	Phase_I					0	68	+									RNA	SNP	ENST00000366209.2	37																																																																																						0.597	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000325406.1			3	24	0	0	0	1	0	3	24				
ETS1	2113	broad.mit.edu	37	11	128426243	128426243	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr11:128426243A>G	ENST00000392668.4	-	3	241	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	151	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TCATCCCAAAAGGGGTAGCAA	0.448																																						ENST00000392668.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(157-159)Ttt>Ctt		v-ets avian erythroblastosis virus E26 oncogene homolog 1							155.0	134.0	140.0					11																	128426243		1566	3579	5145	SO:0001583	missense	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128426243A>G		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000392668.4:c.157T>C	11.37:g.128426243A>G	ENSP00000376436:p.Phe53Leu		Somatic				ETS1_ENST00000525404.1_5'UTR	p.F53L	NM_001143820.1	NP_001137292.1	WXS	Illumina GAIIx	Phase_I	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	3	241	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)				PNT.		A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000392668.4	37	c.157T>C	CCDS44767.1	.	.	.	.	.	.	.	.	.	.	A	4.254	0.046125	0.08243	.	.	ENSG00000134954	ENST00000392668	T	0.08546	3.08	5.91	-0.172	0.13327	.	31.137600	0.02836	U	0.127298	T	0.04003	0.0112	.	.	.	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.36696	-0.9737	9	0.02654	T	1	.	9.9312	0.41523	0.4387:0.0:0.5613:0.0	.	53	Q6N087	.	L	53	ENSP00000376436:F53L	ENSP00000376436:F53L	F	-	1	0	ETS1	127931453	0.028000	0.19301	0.100000	0.21137	0.969000	0.65631	0.081000	0.14823	-0.052000	0.13311	0.533000	0.62120	TTT		0.448	ETS1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386267.2	NM_005238		3	65	0	0	0	1	0	3	65				
CHD5	26038	broad.mit.edu	37	1	6214772	6214772	+	Silent	SNP	C	C	T	rs141326175		TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr1:6214772C>T	ENST00000262450.3	-	5	792	c.693G>A	c.(691-693)ccG>ccA	p.P231P	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGGGCACCTGCGGGGGGCTGA	0.687																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(691-693)ccG>ccA		chromodomain helicase DNA binding protein 5		C		0,4360		0,0,2180	25.0	21.0	22.0		693	2.8	1.0	1	dbSNP_134	22	3,8549		0,3,4273	no	coding-synonymous	CHD5	NM_015557.2		0,3,6453	TT,TC,CC		0.0351,0.0,0.0232		231/1955	6214772	3,12909	2180	4276	6456	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6214772C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.693G>A	1.37:g.6214772C>T			Somatic				CHD5_ENST00000378021.1_5'UTR	p.P231P	NM_015557.2	NP_056372.1	WXS	Illumina GAIIx	Phase_I	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	5	792	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	231					A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.693G>A	CCDS57.1																																																																																				0.687	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		29	33	0	0	0	1	0	29	33				
NAF1	92345	broad.mit.edu	37	4	164050124	164050124	+	Silent	SNP	T	T	G			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr4:164050124T>G	ENST00000274054.2	-	8	1603	c.1410A>C	c.(1408-1410)ccA>ccC	p.P470P	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	470	Pro-rich.				pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ggggagggggtgggggtaggg	0.522																																						ENST00000274054.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(1408-1410)ccA>ccC		nuclear assembly factor 1 ribonucleoprotein							10.0	10.0	10.0					4																	164050124		2188	4274	6462	SO:0001819	synonymous_variant	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050124T>G		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1410A>C	4.37:g.164050124T>G			Somatic				NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	p.P470P	NM_138386.2	NP_612395.2	WXS	Illumina GAIIx	Phase_I	Q96HR8	NAF1_HUMAN			8	1603	-	all_hematologic(180;0.166)	Prostate(90;0.109)	470			Pro-rich.		D3DP28|E9PAZ2	Silent	SNP	ENST00000274054.2	37	c.1410A>C	CCDS3803.1																																																																																				0.522	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		3	10	0	0	0	1	0	3	10				
SNAPC4	6621	broad.mit.edu	37	9	139276418	139276418	+	Missense_Mutation	SNP	C	C	A	rs201265450		TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr9:139276418C>A	ENST00000298532.2	-	17	2543	c.2175G>T	c.(2173-2175)caG>caT	p.Q725H		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa									p.Q725H(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GCTGCCCACTCTGGGTGGCTC	0.677																																						ENST00000298532.2																			1	Substitution - Missense(1)	p.Q725H(1)	lung(1)	biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(2173-2175)caG>caT		small nuclear RNA activating complex, polypeptide 4, 190kDa							21.0	22.0	21.0					9																	139276418		2197	4292	6489	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139276418C>A	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.2175G>T	9.37:g.139276418C>A	ENSP00000298532:p.Gln725His		Somatic					p.Q725H	NM_003086.2	NP_003077.2	WXS	Illumina GAIIx	Phase_I	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	17	2543	-		Myeloproliferative disorder(178;0.0511)	725						Missense_Mutation	SNP	ENST00000298532.2	37	c.2175G>T	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912303	0.33721	.	.	ENSG00000165684	ENST00000298532	T	0.25912	1.77	4.08	2.21	0.28008	.	8.448780	0.00559	N	0.000277	T	0.28797	0.0714	L	0.43152	1.355	0.09310	N	1	P	0.51653	0.947	P	0.44732	0.459	T	0.16837	-1.0389	10	0.49607	T	0.09	-6.1184	7.2401	0.26092	0.0:0.789:0.0:0.211	.	725	Q5SXM2	SNPC4_HUMAN	H	725	ENSP00000298532:Q725H	ENSP00000298532:Q725H	Q	-	3	2	SNAPC4	138396239	0.000000	0.05858	0.003000	0.11579	0.149000	0.21700	-0.235000	0.09016	0.198000	0.20407	0.462000	0.41574	CAG		0.677	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		13	17	1	0	0.000151284	1	0.000156012	13	17				
ST6GAL2	84620	broad.mit.edu	37	2	107459605	107459605	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr2:107459605G>A	ENST00000409382.3	-	2	1439	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R277W|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R277W|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	277					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						ACCAGGCGCCGCCAGCCCAGC	0.731																																						ENST00000409382.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(829-831)Cgg>Tgg		ST6 beta-galactosamide alpha-2,6-sialyltranferase 2							4.0	6.0	5.0					2																	107459605		1647	3523	5170	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107459605G>A	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.829C>T	2.37:g.107459605G>A	ENSP00000386942:p.Arg277Trp		Somatic				ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R277W|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R277W	p.R277W	NM_001142351.1	NP_001135823.1	WXS	Illumina GAIIx	Phase_I	Q96JF0	SIAT2_HUMAN			2	1439	-			277					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.829C>T	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972296	0.74246	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.31247	1.5;1.5;1.5	4.72	3.84	0.44239	.	1.117690	0.06782	N	0.785500	T	0.50803	0.1637	L	0.61218	1.895	0.37477	D	0.915859	D;D	0.76494	0.999;0.996	P;P	0.58970	0.711;0.849	T	0.36696	-0.9737	10	0.66056	D	0.02	-5.3243	12.1198	0.53885	0.0:0.5885:0.4115:0.0	.	277;277	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	W	277	ENSP00000355273:R277W;ENSP00000386942:R277W;ENSP00000387332:R277W	ENSP00000355273:R277W	R	-	1	2	ST6GAL2	106826037	0.997000	0.39634	0.899000	0.35326	0.562000	0.35680	2.060000	0.41394	1.108000	0.41662	0.563000	0.77884	CGG		0.731	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		5	2	0	0	0	1	0	5	2				
SHPK	23729	broad.mit.edu	37	17	3513993	3513993	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr17:3513993G>A	ENST00000225519.3	-	7	1400	c.1298C>T	c.(1297-1299)gCg>gTg	p.A433V	SHPK_ENST00000572705.1_5'Flank	NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	433					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		CCTGGACAGCGCACTCCCACT	0.612																																						ENST00000225519.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1297-1299)gCg>gTg		sedoheptulokinase							158.0	155.0	156.0					17																	3513993		2203	4300	6503	SO:0001583	missense	23729				carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity	g.chr17:3513993G>A	AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"""carbohydrate kinase-like"""	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.1298C>T	17.37:g.3513993G>A	ENSP00000225519:p.Ala433Val		Somatic					p.A433V	NM_013276.2	NP_037408	WXS	Illumina GAIIx	Phase_I	Q9UHJ6	SHPK_HUMAN		COAD - Colon adenocarcinoma(5;0.0828)	7	1400	-			433					B2R640|Q8WUH3	Missense_Mutation	SNP	ENST00000225519.3	37	c.1298C>T	CCDS11030.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037917	0.93630	.	.	ENSG00000197417	ENST00000225519	T	0.13420	2.59	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.31670	0.0804	M	0.81682	2.555	0.80722	D	1	D	0.71674	0.998	P	0.52454	0.699	T	0.22591	-1.0212	10	0.56958	D	0.05	-19.7998	16.9394	0.86213	0.0:0.0:1.0:0.0	.	433	Q9UHJ6	SHPK_HUMAN	V	433	ENSP00000225519:A433V	ENSP00000225519:A433V	A	-	2	0	SHPK	3460742	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	8.626000	0.90969	2.314000	0.78098	0.563000	0.77884	GCG		0.612	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2			60	55	0	0	0	1	0	60	55				
ELMO2	63916	broad.mit.edu	37	20	45014869	45014869	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr20:45014869G>C	ENST00000290246.6	-	9	765	c.571C>G	c.(571-573)Cag>Gag	p.Q191E	ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000396391.1_Missense_Mutation_p.Q191E|ELMO2_ENST00000372176.1_Missense_Mutation_p.Q103E|ELMO2_ENST00000439931.2_Missense_Mutation_p.Q191E|ELMO2_ENST00000352077.2_Missense_Mutation_p.Q189E|ELMO2_ENST00000445496.2_Missense_Mutation_p.Q8E	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	191					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				AGGGACCTCTGAAGGATTGAC	0.527																																						ENST00000372176.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(307-309)Cag>Gag		engulfment and cell motility 2							134.0	119.0	124.0					20																	45014869		2203	4300	6503	SO:0001583	missense	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45014869G>C	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.571C>G	20.37:g.45014869G>C	ENSP00000290246:p.Gln191Glu		Somatic				ELMO2_ENST00000290246.6_Missense_Mutation_p.Q191E|ELMO2_ENST00000445496.2_Missense_Mutation_p.Q8E|ELMO2_ENST00000439931.2_Missense_Mutation_p.Q191E|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000396391.1_Missense_Mutation_p.Q191E|ELMO2_ENST00000352077.2_Missense_Mutation_p.Q189E	p.Q103E			WXS	Illumina GAIIx	Phase_I	Q96JJ3	ELMO2_HUMAN			9	775	-		Myeloproliferative disorder(115;0.0122)	191					E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	c.307C>G	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292915	0.60086	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000352077;ENST00000450812	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;1.66;0.96;0.96	4.85	4.85	0.62838	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	L	0.60455	1.87	0.80722	D	1	B;P;P	0.37370	0.127;0.592;0.592	B;B;B	0.37091	0.173;0.241;0.241	T	0.27400	-1.0075	10	0.24483	T	0.36	-26.912	17.1413	0.86754	0.0:0.0:1.0:0.0	.	191;191;191	B4DRL5;E9PBG2;Q96JJ3	.;.;ELMO2_HUMAN	E	191;103;191;191;8;189;191	ENSP00000290246:Q191E;ENSP00000361249:Q103E;ENSP00000379673:Q191E;ENSP00000396519:Q191E;ENSP00000409920:Q8E;ENSP00000326172:Q189E;ENSP00000416181:Q191E	ENSP00000290246:Q191E	Q	-	1	0	ELMO2	44448276	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.657000	0.98554	2.526000	0.85167	0.591000	0.81541	CAG		0.527	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		21	56	0	0	0	1	0	21	56				
PRSS3P2	154754	broad.mit.edu	37	7	142481996	142481997	+	RNA	INS	-	-	C	rs372758218|rs376236342		TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr7:142481996_142481997insC	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TCCCAAGGTGGGGGGCTGAGGA	0.564																																						ENST00000603901.1																			0																																																			0							g.chr7:142481996_142481997insC			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481996_142481997insC			Somatic						NR_001296.3		WXS	Illumina GAIIx	Phase_I					0	591	+									RNA	INS	ENST00000603901.1	37																																																																																						0.564	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		7	11						7	11	---	---	---	---
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-	rs569851542		TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tgtfs	p.C168fs	CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000339180.4_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000555731.1_5'Flank|CMTM5_ENST00000382809.2_5'Flank|CMTM5_ENST00000359320.3_5'Flank|IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604																																						ENST00000329715.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(502-504)tgtfs		interleukin 25																																				SO:0001589	frameshift_variant	0				inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding	g.chr14:23845057_23845058delTG	AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"""Interleukins and interleukin receptors"""	13765	protein-coding gene	gene with protein product		605658	"""interleukin 17E"""	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.502_503delTG	14.37:g.23845067_23845068delTG	ENSP00000328111:p.Cys168fs		Somatic				IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	p.C168fs	NM_022789.3	NP_073626.1	WXS	Illumina GAIIx	Phase_I	Q9H293	IL25_HUMAN		GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)	2	760_761	+	all_cancers(95;2e-05)		168					Q2M3F0|Q8IZV3|Q8WXB0	Frame_Shift_Del	DEL	ENST00000329715.2	37	c.502_503delTG	CCDS9597.1																																																																																				0.604	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2			7	107						7	107	---	---	---	---
FOXG1	2290	broad.mit.edu	37	14	29236624	29236626	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr14:29236624_29236626delCAC	ENST00000313071.4	+	1	338_340	c.139_141delCAC	c.(139-141)cacdel	p.H57del	FOXG1_ENST00000382535.3_In_Frame_Del_p.H57del|RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	57	His-rich.				aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		ccacccccagcaccaccaccacc	0.744																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(139-141)cacdel		forkhead box G1				130,3588		4,122,1733						1.2	0.0			27	280,6952		9,262,3345	no	coding	FOXG1	NM_005249.3		13,384,5078	A1A1,A1R,RR		3.8717,3.4965,3.7443				410,10540				SO:0001651	inframe_deletion	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA 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.chr14:29236624_29236626delCAC		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.139_141delCAC	14.37:g.29236633_29236635delCAC	ENSP00000339004:p.His57del		Somatic				FOXG1_ENST00000313071.4_In_Frame_Del_p.H57del	p.H57del			WXS	Illumina GAIIx	Phase_I	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	508_510	+			57			His-rich.		A6NFY2|P55315|Q14488|Q86XT7	In_Frame_Del	DEL	ENST00000313071.4	37	c.139_141delCAC	CCDS9636.1																																																																																				0.744	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			2	4						2	4	---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24807240	24807240	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr16:24807240delA	ENST00000395799.3	+	9	3670	c.3541delA	c.(3541-3543)aaafs	p.K1182fs	TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1182	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTGAGTGGCAAAAAAAGGAG	0.398																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3541-3543)aaafs		trinucleotide repeat containing 6A							243.0	224.0	231.0					16																	24807240		2197	4300	6497	SO:0001589	frameshift_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24807240delA	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3541delA	16.37:g.24807240delA	ENSP00000379144:p.Lys1182fs		Somatic				TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs	p.K1182fs	NM_014494.2	NP_055309.2	WXS	Illumina GAIIx	Phase_I	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	9	3670	+			1182			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Frame_Shift_Del	DEL	ENST00000395799.3	37	c.3541delA	CCDS10624.2																																																																																				0.398	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		7	290						7	290	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53589168	53589170	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chrX:53589168_53589170delCTC	ENST00000342160.3	-	53	7697_7699	c.7240_7242delGAG	c.(7240-7242)gagdel	p.E2414del	HUWE1_ENST00000262854.6_In_Frame_Del_p.E2414del			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2414	Glu-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCTGAGTGTGCTCCTCCTCATCC	0.493																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(7240-7242)gagdel		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53589168_53589170delCTC	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7240_7242delGAG	X.37:g.53589174_53589176delCTC	ENSP00000340648:p.Glu2414del		Somatic				HUWE1_ENST00000262854.6_In_Frame_Del_p.E2414del	p.E2414del			WXS	Illumina GAIIx	Phase_I	Q7Z6Z7	HUWE1_HUMAN			53	7697_7699	-			2414			Glu-rich.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	In_Frame_Del	DEL	ENST00000342160.3	37	c.7240_7242delGAG	CCDS35301.1																																																																																				0.493	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		15	50						15	50	---	---	---	---
